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Дневник пациента о лечении сколиоза и любых аутоимунных заболеваний.
Консультирую по телефону и скайпу.
Это не образовательный блог, я веду его для себя и кидаю сюда малую часть той информации, что я читаю, она доступна только друзьям.

За последние 3 года я прочитал десятки тысяч страниц профессиональной, медицинской, научной информации на английском по всем заболеваниям позвоночника, особенно, сколиозу, аутоимунным заболеваниями и различным хроническим дегенеративным заболеваниям.

Я помогаю людям, ищущим причину своих проблем со здоровьем.

Первоначальная консультация по скайпу или телефону стоит 2500 рублей, продолжительность до двух часов. В процессе консультации провожу детальный опрос и даю конкретные рекомендации по диагностике и лечению. Я не концентрируюсь на отдельных системах тела, так как они не работают изолированно. Все системы тела взаимосвязаны, и только глубокая диагностика метаболизма позволит найти причину заболевания. Врачи этого не понимают, они концентрируются на болезни, не понимая того, как функционирует тело, они даже не задумываются о причинах болезни, но готовы вас лечить. Медицина в России - это вообще шутка. В этой стране 20 лет назад уничтожили науку, и с тех пор медицина превратилась в клоунаду, у нас практикуют то, от чего в Штатах и Европе уже давно отказались, хотя и там тоже официальная медицина это по большей части массовое преступление. Но именно в Штатах, из-за высокой конкуренции, есть суперграмотные врачи, все исследования, вся наука - там. И без тысяч часов, потраченных на чтение этих исследований и статей, ничего в теле не понять. Русские врачи ничего не читают на английском, потому что в массе вообще не знают английского на достаточном уровне... А я последние 3 года только этим и занимался.

Я не обещаю никого вылечить, я не буду разбираться с вашими анализами, вам самим придётся лечиться и изучать вашу проблему. Но я могу направить вас в правильном направлении. Если не смогу быть вам полезен - верну деньги.

Пишите в личку или комментируйте к посту. Сразу говорите, какая у вас проблема и все симптомы.

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Знакомтесь, - Metabolic Muscle Diseases. Походу мой случай. Либо метаболик, либо аутоиммюн. У меня всегда с детства была слабая выносливость, и в 10 лет, когда в футбол играл и в 19 в каратэ. Очень слабая, сколько не тренировался, не улудшалась. Походу у меня, что-то типа denosine monophosphate deaminase deficiency type 1.


Они могут протекать бессимптомно
. Походу всегда была такая штука, может генетическая, а веганская диета была триггером. Теперь надо понять, что у меня конкретно. Мало времени осталось, надеюсь, успею.

Похоже когда у меня давление было, пострадала  pituitary gland и был

Hypopituitarism в частности гипотириоз, надо будет потом ещё почитать.

Пришлос 20 баксов отдать за доступ к статьям. Хороший сайт, но платный.

Approach to the metabolic myopathies

Disclosures

Last literature review version 19.2: May 2011 | This topic last updated: February 17, 2011 (More)

INTRODUCTION — Most patients with a metabolic myopathy (eg, glycogen storage diseases, carnitine palmitoyltransferase deficiency) have dynamic rather than static symptoms, and therefore usually complain of exercise intolerance, muscle pain and cramps rather than fixed weakness with exercise. Nevertheless, some patients may develop progressive muscular weakness that is usually proximal, mimicking inflammatory myopathy or limb girdle muscular dystrophy, but is sometimes distal. In a smaller group of patients, both dynamic and static symptoms predominate (table 1).

This topic review will provide an overview of the evaluation of the patient with a suspected metabolic myopathy. A general approach to the diagnosis of metabolic myopathies is presented in Figure 1 (figure 1). Detailed descriptions of the different disorders are presented separately. (See "Overview of disorders of glycogen metabolism" and "Causes of metabolic myopathies".)

An overview of the biochemistry of energy metabolism in muscle is also discussed elsewhere. (See "Energy metabolism in muscle".)

OVERVIEW OF CLINICAL MANIFESTATIONS — The symptoms, signs, and laboratory abnormalities resulting from a metabolic myopathy vary with the underlying defect. The diagnosis of these disorders depends upon a constellation of findings, including the type of muscle involvement, specific laboratory abnormalities (particularly elevations in serum creatine kinase and myoglobinuria), patient age, family history, and the results of histologic and pathologic examinations.

Glycolytic/glycogenolytic disorders — In patients with defects of carbohydrate metabolism, muscle symptoms are induced by either brief isometric exercise, such as lifting heavy weights, or by less intense but sustained dynamic exercise, such as swimming, climbing stairs, or running. Acute muscle breakdown may lead to myoglobinuria, cramps, and muscle swelling.

In young children, defects in glycogenolysis may present with liver dysfunction, hepatomegaly, failure to thrive, hypoglycemia (sometimes with associated hypoglycemic seizures), gross motor delay, peripheral neuropathy, cardiac involvement, hemolytic anemia with jaundice, splenomegaly, and myoglobinuria. Mental retardation, upper and lower motor neuron involvement with sensory loss, sphincter problems, and neurogenic bladder may also be observed.

The principal symptoms and signs, however, are those related to exercise intolerance and recurrent myoglobinuria [1,2]. Patients with defects of glycogen metabolism usually complain of easy fatigability upon exertion and, occasionally, of muscle stiffness induced by exercise. In some cases, brief rest when muscle symptoms develop can subsequently result in improved exercise tolerance, referred to as the spontaneous "second wind" [3]. "Second wind" also can be induced by the infusion of carbohydrate fuel (eg, glucose) or lipids [4].

Patients with certain glycolytic defects (eg, muscle phosphofructokinase deficiency), however, are unable to achieve a spontaneous second wind [5] or have worsening of symptoms after the administration of glucose (the "out of wind" phenomenon") [6]. (See "Overview of disorders of glycogen metabolism" and "Phosphofructokinase deficiency (glycogen storage disease VII, Tarui disease)".)

Disorders of lipid metabolism — The metabolic myopathies resulting from disorders of lipid metabolism include:

  • Defects of beta-oxidation enzymes
  • Carnitine deficiency syndromes
  • Fatty acid transport defects

(See "Causes of metabolic myopathies".)

With disorders of lipid metabolism, symptoms are usually induced by prolonged exercise and prolonged fasting. These patients, in contrast to those with glycogen metabolism defects, do not develop true muscle cramps or contractures, and do not experience a "second wind." Their symptoms and signs, such as muscle pain, tightness, or myoglobinuria, are usually induced by infection, general anesthesia, exposure to cold, and a low-carbohydrate, high-fat diet [7].

Some investigators have suggested that there are four main clinical and laboratory features that should lead the clinician to suspect a fatty acid oxidation disorder [8]:

  • Involvement of fatty acid oxidation-dependent tissues, such as the heart, muscle, and liver
  • Recurrent episodes of hypoketotic hypoglycemia (ketoacidosis does not occur because fatty acids cannot be converted to ketoacids in the liver)
  • Acute metabolic decompensation in association with fasting
  • Alterations in plasma and tissue concentrations of carnitine

Skeletal muscle, heart, and liver are highly dependent upon efficient fatty acid utilization. Fatty acids are a major source of energy for the heart and liver, particularly during fasting when glycogen and glucose stores have been depleted. In addition, resting muscle and exercising muscle during mild to moderate prolonged exercise derive most of the required energy from fatty acid oxidation. (See "Energy metabolism in muscle".)

Among fasting patients with fatty acid oxidation defects, the free fatty acids cannot be metabolized because of the existing metabolic block; as a result, they are stored in the cytoplasm as triglycerides, thereby resulting in progressive lipid storage myopathy with weakness, hypertrophic and/or dilated cardiomyopathy, and fatty liver. In addition, with fasting, glucose and glycogen stores are depleted and ketone bodies are not generated because of the existing metabolic block. As a result, the ratio of serum free fatty acids to ketones increases from the normal ratio of 1:1 to more than 2:1, which is highly suggestive of a block in beta-oxidation [1,9].

Other conditions that can lead to metabolic decompensation among patients with fatty acid oxidation defects include cold-induced shivering thermogenesis and infection with vomiting:

  • With cold exposure, shivering depends heavily upon long-chain fatty acid oxidation [7]
  • After prolonged fasting or during infections, children can become comatose and present with Reye-like syndrome symptoms

Serum carnitine levels vary with the various defects of lipid metabolism. With carnitine transport defects, for example, total serum carnitine is significantly reduced (eg, less than 5 percent of normal) and the esterified fraction is normal [10]. This finding is probably related to both reduced renal carnitine reabsorption (leading to carnitine leak), and defective intestinal carnitine absorption.

By comparison, in the majority of cases of intramitochondrial beta-oxidation defects, the amount of total serum carnitine is reduced to less than 50 percent of normal, and the esterified carnitine fraction is increased to more than 50 percent of normal (normal: 10 to 25 percent in the fed state and 30 to 50 percent during fasting) [8]. This occurs because the accumulating longer-chain-length acylcarnitines are reabsorbed much more easily at the renal tubular reabsorptive site than free carnitine. As a result, the free carnitine fraction will be reduced (table 2) [11].

Myoglobinuria and rhabdomyolysis — Acute muscle breakdown of sufficient severity can lead to myoglobinemia and myoglobinuria [12]. The urine acquires a brownish, cola-like color, and the supernatant is positive for heme in the absence of red blood cells in the sediment. This heme-pigment- based assay has a sensitivity of 81 percent for detection of rhabdomyolysis [13]. The diagnostic approach to myoglobinuria and rhabdomyolysis is discussed in detail separately. (See "Red to brown urine: Hematuria; hemoglobinuria; myoglobinuria" and "Clinical manifestations, diagnosis, and causes of rhabdomyolysis".)

Rhabdomyolysis may also occur in the absence of overt myoglobinuria, even when myoglobin is undetectable in the urine by qualitative or semiquantitative assay [14]. The sensitivity of the ultrafiltration/dipstick urine myoglobin assay is relatively low (22 percent) [13]. However, myoglobin can be detected quantitatively in the serum. The rise in serum myoglobin precedes the rise in creatine kinase (CK); the clearance of myoglobin from plasma via renal excretion and metabolism to bilirubin is rapid and may be complete within one to six hours. Therefore, urine and serum myoglobin may not be detectable by the time of evaluation [14].

Serum CK is usually highly elevated (more than 5 to 100 times normal), with associated hyperuricemia, hyperphosphatemia, and hypocalcemia. The patient may or may not have any muscle symptoms or signs such as stiffness, cramps, aches, or swelling.

Patients with myoglobinuria may develop acute renal failure. Renal failure may be preventable with aggressive hydration and alkalinization of the urine. Hypercalcemia can occur during recovery of renal function in patients who develop renal failure. (See "Prevention and treatment of heme pigment-induced acute kidney injury (acute renal failure)", section on 'Prevention' and "Clinical features and diagnosis of heme pigment-induced acute kidney injury (acute renal failure)", section on 'Calcium'.)

In addition to the risk of acute renal failure, some patients develop respiratory failure, cardiac arrhythmias, or sometimes coma.

The frequency of myoglobinuria due to a metabolic defect may vary among children and adults. In a large series of children with recurrent myoglobinuria, an enzyme abnormality could be detected in only 24 percent of the cases [15]; by comparison, a similar adult series of 77 patients found a biochemical abnormality in 47 percent [16]. The most common metabolic cause of recurrent myoglobinuria in both adults and children is carnitine palmitoyltransferase II deficiency.

In addition to genetically determined muscle metabolic defects, common causes of rhabdomyolysis are toxins, alcohol, drugs, muscle compression, overexertion, or inflammatory processes. Both viral (influenza A and B, Epstein-Barr, HIV, adenovirus, cytomegalovirus, echovirus, coxsackievirus, parainfluenza, herpes simplex) and autoimmune (dermatomyositis, polymyositis) inflammatory etiologies have been implicated. Hypothyroidism may lead to rhabdomyolysis and myoglobinuria, and a few cases related to thyrotoxicosis have also been described [17]. (See "Clinical manifestations, diagnosis, and causes of rhabdomyolysis".)

Toxins appear to be the most frequent cause of rhabdomyolysis. In a series of 475 hospitalized adults with rhabdomyolysis, the following observations were made [14]:

  • The most frequent etiology was an exogenous toxin (46 percent), a category that included alcohol, illicit drugs, and prescribed drugs (eg, antipsychotics, statins, zidovudine, colchicine, selective serotonin reuptake inhibitors and lithium) [14]. Less common causes included trauma, seizures, immobility, critical illness myopathy, exercise, heat/dehydration, and hypothermia. Multiple factors could be identified in 60 percent of cases.
  • An underlying myopathy or metabolic muscle defect was diagnosed in only 10 percent of the patients [14]. In this group, recurrences were common, the incidence of acute renal failure was low, and typically only one etiologic factor could be identified. Myoglobinuria was detected by dipstick/ultrafiltration in 19 percent of the patients.

In a series of 191 children treated in the emergency department of a pediatric tertiary care hospital, the most common causes of rhabdomyolysis were viral myositis, trauma, and connective tissue diseases, found in 38, 26, and 5 percent, respectively [18]. Among children with CK values ≥6000 IU/L, a genetically determined metabolic myopathy or undiagnosed dermatomyositis was present in 6 of 37 (16 percent), while in children with CK levels of 1000 to 5999 IU/L, the proportion was 10 of 154 (6 percent). The incidence of acute renal failure in children in this study (4.7 percent) [18] was much lower than that reported in the adult series (46 percent) [14] discussed above.

Myoglobinuria may also occur in patients with dystrophinopathies or caveolinopathies (ie, limb-girdle muscular dystrophy type 1C) [19]. (See "Limb-girdle muscular dystrophy".)

Although exercise intolerance, often dating back to childhood, is common in patients with mitochondrial defects, rhabdomyolysis with resultant myoglobinuria is rare [20]. However, myoglobinuria has been reported in patients with mutations involving cytochrome b, cytochrome c oxidase (cox), and the MELAS A3260G mutation [21-23]. Exercise intolerance itself is often overshadowed by more debilitating manifestations of mitochondrial diseases, but can be exacerbated under conditions of intercurrent infection or fasting. In certain patients, weakness can be persistent. (See "Mitochondrial myopathies: Clinical features and diagnosis".)

SYMPTOM ASSESSMENT — When confronted with a patient with a possible metabolic myopathy, the first step is to determine whether the symptoms are dynamic, static, or both (table 1) [24]:

  • Patients with dynamic symptoms develop acute and recurrent episodes of irreversible muscle dysfunction related to exercise intolerance, prolonged fasting, exposure to cold, general anesthesia, intercurrent infection, or low-carbohydrate, high-fat diet. Some of these patients may develop myoglobinuria. In between episodes, the patients are free of symptoms.
  • Static symptoms include proximal weakness (which is indistinguishable from limb-girdle muscular dystrophies), occasionally distal weakness, generalized muscle weakness, and respiratory difficulties related to involvement of respiratory muscles or fixed cardiomyopathy (as in acid maltase deficiency). Other static features include progressive external ophthalmoplegia, peripheral neuropathies, seizures, developmental delay, failure to thrive, short stature, deafness, and ataxia. The symptoms themselves are not necessarily static since progression of varying degree usually occurs depending upon the severity and type of defect.

Both dynamic and static symptoms are common in mitochondrial myopathies related to either mitochondrial DNA defects or specific inborn errors of fatty acid oxidation [1].

The second step is targeted at determining the type of the underlying biochemical abnormality as suggested by the pattern of symptoms (figure 1). As examples:

  • Patients who develop symptoms after prolonged, mild to moderate, low-intensity activity (such as walking) may have a defect in fatty acid oxidation (especially if the symptoms occur after one hour).
  • Symptoms developing during or after high-intensity isometric exercise (such as pushing a stalled car or lifting weights) or high-intensity, sustained, submaximal exercise (such as sprinting) suggest a defect in glycogen and/or glucose metabolism; these symptoms tend to occur early in the course of the activity.
  • Defects in glucose, glycogen, or fatty acid metabolism may be observed among patients with symptoms produced by low-intensity, submaximal exercise (eg, running slowly).

The Table provides a list of the various biochemical defects, categorized on the basis of the symptoms they produce (table 1). The general approach to the patient with and the differential diagnosis of muscle weakness is presented separately. (See "Approach to the patient with muscle weakness".)

LABORATORY TESTING — The laboratory investigation of patients with suspected metabolic myopathies includes serum and urine testing, the forearm ischemic exercise test, electromyography, muscle biopsy, and, in some cases, nuclear magnetic resonance spectroscopy, if available (table 3).

Other etiologies (eg, toxic, traumatic, alcohol- and drug-related, endocrine, viral and inflammatory) should be considered and appropriate testing should be performed to exclude them prior to investigating a metabolic etiology.

Serum and urine testing — Abnormal levels of specific compounds in the blood and/or urine, either alone or in combination, may help diagnose or suggest a specific metabolic abnormality. These include serum levels of lactate, pyruvate, lactic acid dehydrogenase, uric acid, free and total carnitine, ketones, glucose, ammonia, myoglobin, liver transaminases, potassium, calcium, phosphate, creatinine, and acylcarnitine, and urinary levels of ketones, myoglobin, dicarboxylic acids, and acylglycines.

  • Urinary myoglobin excretion, which should be measured at rest and with exercise, can be induced by inborn errors of glycogen/glucose metabolism, fatty acid metabolism, and some mitochondrial DNA defects. The induction of myoglobinuria by pure exertion or by toxic factors, such as infection and fever, may suggest a particular disorder. As an example, a clinical presentation with features of a Reye-like syndrome or with myoglobinuria induced by toxic factors suggests a fatty acid oxidation defect [15].

    Patients with acute myoglobinuria may have concurrent elevations of serum creatinine, potassium, phosphate, uric acid, and even amino acids (particularly taurine). The serum calcium is usually low, but hypercalcemia may develop after recovery from renal failure.
  • The serum creatine kinase (CK) concentration should be tested at rest and during episodes of acute recurrent irreversible muscle dysfunction, with or without myoglobinuria. In patients with glycogen defects, the CK level may be elevated at rest, particularly in patients with static symptoms. By comparison, the CK level in patients with CPT II deficiency may be normal between acute episodes.
  • Dicarboxylic acids (DCAs) are detected in the urine of all patients with intramitochondrial beta-oxidation defects. This change is not seen with defects involving the transport of long-chain fatty acids into the mitochondria and also in carnitine uptake defects.
  • Serum levels of lactate and pyruvate may be elevated in patients with mitochondrial myopathies.
  • Significant elevation of CK levels with a normal LDH concentration raises the possibility of lactate dehydrogenase deficiency.
  • Modest hyperammonemia may be accompanied by elevated liver transaminases among patients with fatty acid oxidation defects who present with a Reye-like syndrome.

Lipid metabolism defects — In the patient with a suspected lipid metabolism defect, the determination of plasma total and free carnitine, serum acylcarnitines, urine acylglycines, and organic acids should preferably be performed during episodes of acute catabolic crises or periods of fasting. This is important because normal values may be observed when the patient is metabolically stable and not fasting. A fasting study is NOT recommended given the possibility of precipitating an acute catabolic crisis leading to death. (See "Causes of metabolic myopathies".)

The presence of a fatty acid metabolism disorder is supported by the following findings:

  • The combination of hypoketosis and hypoglycemia.
  • A serum free fatty acid to ketone ratio of more than 2:1 (normal ratio is 1:1) [1].
  • Specific abnormalities in serum carnitine concentrations. The value of carnitine determination in suspected fatty acid metabolism defects is illustrated in the Table (table 2). In carnitine uptake defects, the total serum carnitine is very low. In comparison, total serum carnitine concentrations are usually normal or low in fatty acid metabolism defects, except for CPT I deficiency, a disorder in which they may be normal or increased due to defective esterification of long-chain fatty acids to carnitine. In addition, the ratio of free carnitine to total carnitine is usually normal or low in most fatty acid metabolism defects, except for CPT I deficiency in which the ratio is high [25]. If serum acylcarnitines are elevated, the further separation and identification of the individual acylcarnitines could prove useful in the diagnosis of specific defects. (See "Causes of metabolic myopathies".)
  • An amount of DCAs which is equal to or higher than the amount of ketones (if the urine specimen was obtained after a period of fasting). However, the absence of DCAs in the urine does not rule out a fatty acid metabolism defect. The type of excreted DCAs may also help in the identification of the specific metabolic defect [26].
  • The finding of specific acylglycines in small quantities in the urine with some fatty acid metabolism defects. These include short-chain acyl-CoA dehydrogenase (SCAD), medium-chain acyl-CoA dehydrogenase (MCAD), electron transfer flavoprotein (ETF), and ETF-coenzyme Q oxidoreductase deficiencies [1].

Electromyography — In patients with fixed weakness, electromyography may be useful in excluding a neuropathic process and providing evidence for a myopathic condition. Myotonic discharges may be observed in patients with myophosphorylase, acid maltase, and debrancher enzyme deficiency. In patients with excessive fatiguability, repetitive nerve stimulation may be instrumental in excluding a defect in neuromuscular transmission [24]. (See "Overview of electromyography".)

Forearm exercise testing — Both anaerobic (ischemic) and aerobic forearm exercise testing may be helpful in evaluating patients suspected of having some type of metabolic myopathy.

Ischemic exercise — The forearm ischemic exercise test should be performed if the clinical evaluation and laboratory findings suggest an enzymatic defect in the nonlysosomal glycogenolytic pathway and in glycolysis. This test may be useful in assessing all patients with exercise intolerance [27]. However, children younger than five years of age may not be cooperative with the testing protocol.

The test begins with the placement and stabilization of a needle in a superficial antecubital vein of the arm to be exercised. Resting blood samples are obtained for serum lactate, pyruvate, CK, and ammonia. The blood pressure cuff is inflated to a pressure level above the diastolic pressure and the patient is asked to perform one per second hand grips with at least 75 percent of the maximum voluntary hand grip. The duration of the ischemic exercise test is one minute in the absence of cramping, but the cuff should be immediately deflated if an acute cramp develops.

Some recommend that the test be performed without the blood pressure cuff in place (ie, non-ischemic forearm exercise test) [28,29]; most inflate the cuff to a value intermediate between the systolic and diastolic blood pressures to permit systolic blood flow. In certain patients, inflation of the blood pressure cuff above the systolic pressure carries some risk of focal rhabdomyolysis, myoglobinuria, and acute compartment syndrome [30].

If the patient tolerates the test and exercises adequately, a single blood sample of CK and sequential samples of lactate, pyruvate, and ammonia are obtained at intervals of 1, 2, 3, 5, and 10 minutes after one minute of intermittent handgrip exercise. In normal individuals after a good effort, a three- to fivefold rise in lactate is noted within the first one to three minutes. The rise in serum ammonia is similar, but somewhat slower and more robust (5- to 10-fold over baseline); ammonia reaches a peak at three to four minutes.

Various abnormalities in the forearm ischemic exercise test may be observed with different metabolic disorders (table 4) [31]:

  • The rise in lactate is less than twofold among patients with inborn errors of glycolysis/glycogenolysis; however, the increase in ammonia is normal in patients who have made sufficient effort during the test.
  • Lactate production may be absent or diminished in phosphorylase, phosphofructokinase, debrancher, phosphoglycerate mutase, phosphoglycerate kinase, and LDH enzyme deficiencies. In the last condition, there is no rise in lactate levels, but pyruvate levels rise normally.
  • The lactate curve is normal in acid maltase and in most cases of phosphorylase b kinase deficiencies [1], probably related to differential activation mechanisms for muscle phosphorylase [32,33].
  • In patients with mitochondrial myopathies, there may be excessive production of lactate at submaximal levels of effort, but this is not a universal finding. With the non-ischemic forearm exercise test, the production of lactate is not sufficiently specific or sensitive for the diagnosis of mitochondrial disorders [34].
  • With myoadenylate deaminase deficiency, there is absence of ammonia production with normal responses of venous lactate and pyruvate.
  • The level of CK may rise in both glycogenolytic/glycolytic and fatty acid oxidation defects. The forearm ischemic exercise test is normal in defects of fatty acid metabolism as far as the lactate and ammonia curves are concerned.

Aerobic exercise — There is less experience with aerobic forearm exercise testing, but it may be a valuable method for differentiating mitochondrial myopathies from muscular dystrophy [35].

The aerobic forearm exercise test begins with a determination of a patient's maximal voluntary hand grip or maximal voluntary contraction (MVC), using a dynamometer or a rolled sphygmomanometer cuff. Once an estimate of the MVC is made, the patient is allowed to rest for 30 minutes, meanwhile, a venous cannula is placed in the antecubital vein, and a baseline sample of blood is obtained and refrigerated for later blood gas analysis. After the baseline sample has been obtained, exercise is begun (40 percent of MVC for one second alternating with one second of rest) and continued for three minutes. Additional blood samples are obtained during exercise at one minute intervals for three minutes. The venous blood samples are then analyzed for their oxygen saturation.

Using the technique described above, 12 patients with various forms of mitochondrial myopathy had a mean decrease of only seven percent (range +15 to -32 percent) while 12 healthy subjects and 10 patients with muscular dystrophy had mean decreases in antecubital vein oxygen saturation during exercise of 43 percent and 38 percent, respectively [35]. There was no overlap between the decrease in oxygen saturation of either healthy subjects (-34 to -54 percent) or muscular dystrophy (-33 to -54 percent) when compared to values obtained for those with mitochondrial myopathies. The need for blood gas analysis limits this test to sites with such equipment. Children may not be able to cooperate with the testing protocol.

Magnetic resonance spectroscopy — Nuclear magnetic resonance (NMR) spectroscopy is a noninvasive method for the study of muscle metabolism [36]. Its use is limited since it is unavailable in most institutions. If used, the absence of intracellular acidification during exercise suggests a glycolytic defect. In mitochondrial defects, the ratio of inorganic phosphate to phosphocreatine at rest is elevated, with delayed resynthesis of phosphocreatine after exercise [37,38].

Unlike NMR spectroscopy, proton magnetic resonance spectroscopy (MRS) can be performed with available clinical MR equipment. Limited data suggest that the technique may be useful in the diagnosis and in monitoring of therapy in carnitine palmitoyl transferase II deficiency [39].

Muscle biopsy — A muscle biopsy should be performed only after obtaining preliminary blood and urine tests, and, in some patients, electromyography and a forearm ischemic exercise test. Given the impracticality of testing muscle biopsy tissue for all known metabolic defects, the initial clinical and laboratory assessment helps target subsequent immunohistochemical and biochemical testing of muscle tissue.

Microscopic examination of the muscle sample should include electron microscopy, and immunohistochemical staining for phosphorylase, phosphofructokinase, and myoadenylate deaminase, if deficiencies in these enzymes are diagnostic possibilities. Microscopic examination will determine the presence or absence of glycogen or lipid storage, or the presence of ragged-red fibers in mitochondrial myopathies.

Since all of these evaluations will be normal in a number of metabolic defects, additional biochemical evaluation of muscle tissue should be pursued through commercial or research laboratories. In this setting, analysis will need to be focused upon specific possible biochemical defects, based upon the results of the preliminary noninvasive evaluation. In some instances, it may be possible to perform the direct enzymatic assay in cultured skin fibroblasts. This assay will be profitable diagnostically only if the enzymatic defect is expressed in this cell type.

Molecular techniques — Specific defects can be characterized at the molecular level either by Western blotting or by molecular analysis of specific mutations. Western blotting can be used to differentiate between a kinetic deficiency versus a defect in the production of the relevant enzyme. The identification of specific mutations can be used to precisely and rapidly detect specific defects and also to carry out presymptomatic, or prenatal diagnosis, and carrier detection.

Energy metabolism in muscle

Disclosures

Last literature review version 19.2: May 2011 | This topic last updated: July 24, 2009 (More)

INTRODUCTION — Patients with metabolic myopathies have underlying defects of energy production in muscle. Most affected patients have dynamic symptoms, such as exercise intolerance, muscle pain, and cramps upon exercise, rather than static symptoms, such as a fixed weakness of a specific muscle group.

To better understand these disorders, this topic review provides an overview of energy metabolism in muscle. The classification, diagnosis, and treatment of the metabolic myopathies are presented separately. (See "Approach to the metabolic myopathies" and "Causes of metabolic myopathies" and "Overview of disorders of glycogen metabolism" and "Mitochondrial myopathies: Clinical features and diagnosis".)

Prior to a review of the pathways of energy metabolism, it is helpful to first briefly review the sources of energy in muscle.

ENERGY SUBSTRATES IN EXERCISING MUSCLE — The main types of "fuel" used by muscle for energy metabolism are glycogen, glucose, and free fatty acids [1-3]. The particular energy sources used by working muscle for aerobic metabolism depend upon a number of factors including the intensity, type, and duration of exercise, physical conditioning, and diet [4,5]:

  • At rest, muscle predominantly uses fatty acids [1].
  • During high-intensity, isometric exercise, anaerobic glycolysis, and the creatine kinase reaction, in which phosphocreatine is converted to adenosine triphosphate (ATP), are the primary sources of energy [2].
  • With submaximal exercise, the type of substrate used by muscle is heavily dependent upon the relative intensity of exercise. During low-intensity submaximal exercise, the main sources of energy are blood glucose and free fatty acids. With high-intensity submaximal exercise, the proportion of energy derived from glycogen and glucose is increased, and glycogen becomes the main source. Fatigue is experienced when glucose and glycogen stores are depleted (as when a marathon runner hits the "wall").

Sources of muscle energy also vary with the duration of exercise. During the first hour of mild, low-intensity exercise (such as jogging), glucose, glucagon, and free fatty acids are the major sources of energy. The uptake of free fatty acids by muscle increases substantially during one to four hours of mild to moderate prolonged exercise; after four hours, lipid oxidation becomes the major source of energy (table 1) [6]. (See "Exercise physiology".)

ENERGY METABOLISM IN MUSCLE — Muscle contraction and relaxation depend primarily upon energy derived from hydrolysis of adenosine triphosphate (ATP). A number of biochemical processes in muscle fibers are responsible for maintaining a constant supply of ATP. These include:

  • Glycogen or glucose metabolism
  • Oxidative phosphorylation
  • Creatine kinase (CK) reaction by which phosphocreatine is converted to ATP
  • Purine nucleotide cycle
  • Lipid metabolism

Glycogen or glucose metabolism — Energy generation via the metabolism of glycogen or glucose in muscle occurs either anaerobically or aerobically.

Anaerobic glycolysis — Anaerobic glycolysis supplies energy in relatively rare circumstances. This pathway is primarily used during conditions of high-intensity, sustained, isometric muscular activity (eg, lifting heavy objects), particularly in the setting of limited blood flow and oxygen supply to exercising muscle fibers.

Phosphorylase, phosphorylase b kinase, and the debranching enzymes are responsible for the production of glucose-1-phosphate from glycogen (figure 1) [7]. The rate-limiting step in glycolysis, however, is the conversion of fructose-6-phosphate to fructose-1,6-diphosphate by the enzyme phosphofructokinase (PFK). The last step in glycolysis is the conversion of pyruvate to lactate by lactate dehydrogenase.

The development of fatigue is related to the increased concentration of lactate within muscle fibers, thereby resulting in acidification of the muscle cell. The accumulation of inorganic phosphate (Pi), adenosine diphosphate (ADP), and the monovalent form of organic phosphate are also important in fatigue generation [8,9]. As an example, maximal acute exercise to exhaustion is associated with a systemic pH as low as 6.80 and serum lactate concentrations as high as 20 to 25 meq/L [10].

Aerobic glycolysis — During dynamic forms of exercise (isotonic), such as walking or running, aerobic glycolysis appears to play an important role in energy production. With aerobic glycolysis, pyruvate is formed through the same steps described in anaerobic glycolysis, but oxidative decarboxylation of pyruvate takes place through the pyruvate dehydrogenase complex, generating acetyl coenzyme A (acetyl-CoA). The latter compound enters the tricarboxylic acid (TCA) cycle, also known as the citric acid cycle or Krebs cycle, where it is converted into carbon dioxide and water (figure 2) [11,12].

Oxidative phosphorylation — The oxidative phosphorylation system, localized in the inner mitochondrial membrane, is the main source of energy in muscle and other cells (figure 2). Compared to glycolysis, this system produces 17 to 18 times as much adenosine triphosphate (ATP) from the same amount of glucose.

The respiratory chain is composed of four multi-subunit complexes (I, II, III, and IV) linked by the mobile electron carriers coenzyme Q and cytochrome c. The reduced forms of nicotinamide adenine dinucleotide (NADH) and flavin adenine dinucleotide (FADH2) are formed from the citric acid cycle and the beta-oxidation of fatty acids in the mitochondrial matrix. The respiratory chain transfers electrons from NADH (via complex I) and from reduced flavoproteins (via complex II and electron transfer flavoprotein-coenzyme Q oxidoreductase [ETF- Qo]) to coenzyme Q, then complex III, cytochrome c and finally complex IV, where they combine with molecular oxygen to form water. The flow of electrons releases energy that is used in the phosphorylation of ADP to ATP by complex V (ATP synthetase), which is also embedded in the inner mitochondrial membrane [13,14].

Phosphocreatine pathway — During very high intensity exercise, rapid formation of ATP can be accomplished through the reaction of phosphocreatine with ADP catalyzed by creatine kinase. Because the amount of phosphocreatine in muscle is small, the duration of this reaction is very brief. When oxygenation of muscle again becomes adequate, stores of phosphocreatine are replenished.

Purine nucleotide cycle — Intensely exercising muscle can generate ATP over a short period of time using the adenylate kinase reaction; this reaction catalyzes the conversion of two ADP molecules into one molecule of ATP and one molecule of adenosine monophosphate (AMP). The AMP may then be deaminated to inosine monophosphate (IMP) by myoadenylate deaminase, with concurrent production of ammonia (figure 3) [15]. Myoadenylate deaminase activity seems to be higher in type 2, fast muscle fibers.

Lipid metabolism — The metabolism of lipids in muscle occurs via beta- and omega-oxidation of fatty acids.

Beta-oxidation of fatty acids — At rest, fatty acids are the major energy substrate for muscle. Long-chain fatty acids constitute a major source of energy for prolonged, low-intensity exercise, lasting for more than 40 to 50 minutes [16]. Fatty acids are derived from circulating, very low-density lipoproteins in the bloodstream or from triglycerides stored in adipocytes.

Once in the cytoplasm, short- and medium-chain fatty acids of less than 10 carbon atoms can cross both the outer and inner mitochondrial membranes; these compounds subsequently enter the mitochondrial matrix where they undergo beta-oxidation after activation into their CoA esters (figure 4).

However, the mitochondrial membrane is not permeable to long-chain fatty acids; a multi-step process is therefore required for these compounds to be used by mitochondria. In the muscle cytoplasm, long-chain fatty acids are first activated by long-chain acyl-CoA synthetase to their CoA thioesters. The CoA thioesters are subsequently linked with carnitine by the enzyme carnitine palmitoyltransferase I (CPT I), which is located on the inner side of the outer mitochondrial membrane. The acylcarnitine form of the long-chain fatty acid, palmitoylcarnitine, is then transferred across the inner mitochondrial membrane by carnitine:acylcarnitine translocase [17]; once in the mitochondrial matrix, it is converted back to free acyl-CoA derivative and carnitine by CPT II, which is localized on the inner side of the inner mitochondrial membrane (figure 4).

Once carnitine is released, the long-chain acyl-CoA derivative enters the beta-oxidation pathway. With every complete cycle, a two-carbon fragment is cleaved and an acetyl-CoA molecule is released. The acetyl-CoA is then oxidized via the citric acid cycle for energy production in muscle, heart, and other tissues (figure 2) [8].

Ninety percent of the hepatic acetyl-CoA, however, is converted into ketones, which are an important source of energy for all tissues, particularly the brain. During prolonged fasting, ketones provide an important source of energy in brain tissue because the blood-brain barrier is impermeable to long-chain fatty acids [18]. The intramitochondrial beta-oxidation of fatty acids requires the existence of chain-length specific enzymes. The complete oxidation of fatty acids is mediated by at least 11 enzymes (table 1) [19,20].

Omega-oxidation of fatty acids — During prolonged fasting, as much as 20 percent of total cellular oxidation of fatty acids is accomplished in liver peroxisomes through omega-oxidation, thereby resulting in the formation of dicarboxylic acids (DCAs). DCAs are further metabolized through mitochondrial beta-oxidation.

The peroxisomal fatty acid oxidation enzymes are genetically distinct from the mitochondrial enzymes [16]. In mitochondria, the first step of beta-oxidation occurs via a flavin adenine dinucleotide (FAD)-containing enzyme coupled to oxidative phosphorylation that generates adenosine triphosphate (ATP). In peroxisomes, however, beta-oxidation occurs via a flavin-containing oxidase that generates H2O2 and then, through peroxisomal catalase, H2O and O2 [21]. Therefore, some energy is wasted. In mitochondria, the next steps in beta-oxidation are managed by two separate enzymes, while in peroxisomes they are managed by a single multifunctional enzyme protein.

It is believed that fatty acid oxidation in peroxisomes handles very-long-chain fatty acids (>C22), because these accumulate, particularly in neural tissues, in genetically linked peroxisomal disorders such as Zellweger syndrome and adrenoleukodystrophy. (See "Peroxisomal disorders".)

In metabolic defects of intramitochondrial fatty acid oxidation, mitochondrial beta-oxidation of DCAs is impaired at a time when the production of DCAs is increased due to the recruitment of peroxisomal omega-oxidation [22], hence the detection of DCAs in the urine. However, DCAs are also produced in other settings, including normal fasting, diabetic ketoacidosis, and diets containing medium-chain triglycerides. In addition, thioesterases catalyze the deacylation of coenzyme A and the conjugation of the acyl groups to glycine and to carnitine [23,24]. Thus, the detection of acylcarnitine derivatives in serum, and the detection of dicarboxylic acids and acylglycines in urine, has proven useful in the diagnosis of inborn errors of fatty acid oxidation [25,26].

Impairments at any of the important regulatory steps of lipid metabolism can lead to a myopathy and, in some cases, involvement of other organs. (See "Causes of metabolic myopathies".)

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Цифорки:
๐ ๑ ๒ ๓ ๔ ๕ ๖ ๗ ๘ ๙ ๑๐

0 - Ноль
1 - Пакман
2 - Элвис Преслей
3 - Жопа
4 - Нос с глазом
5 - Нос в очках
6 - Тройка
7 - Жопа с рукой
8 - Орлиный нос
9 - Поклов в колени
10 - Пакма и Ноль

khun  - "you"
phûuak-rao/rao -  "we"
khǎo -  "he"
khǎo -  "she"
phûuak-khǎo -  "they"/"them"
man (for animals and things) - "it"

Note: In Thai culture, people also informally call other people phîi ("elder sister/brother") and náawng
("younger sister/brother")

Time Words for Past Tense
- "Last" _______ = _______ thîi-láaeo

aa-thít thîi-láaeo "last week"
duuean thîi-láaeo "last month"
bpii thîi-láaeo "last year"
mûuea-waan-níi "yesterday"
mûuea-cháao-níi "this morning"

Time Words for Future Tense:
- "Next" _______ = _______ nâa

aa-thít nâa "next week"
duuean nâa "next month"
bpii nâa "next year"
phrûng-níi "tomorrow"

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У меня сколиоз и я веду этот дневник, чтобы записывать результаты лечения сколиоза у разных врачей. 

Если Вы мало знаете о сколиозе и о том, как его лечить, то настоятельно рекомендую почитать дневник монстра-исследователя , пациента со сколиозом, который ископал эту тему вдоль и поперёк:
http://healthy-back.livejournal.com/ Многие его статьи нужно прочитать обязательно, чтобы понимать, как лечить сколиоз можно, а как нельзя. А так же сообщество в ЖЖ про лечение сколиоза http://community.livejournal.com/ru_scoliosis/

Сейчас я с помощью Healthy-Backa понял, что лечить сколиоз надо остеопатией. Сейчас я лечусь у остеопата и ищу других остеопатов в Москве.

У меня приличный опыт лечения у разных врачей и рвачей - мануальных терапевтов и остеопатов. Кратко о них:

ПЛОХИЕ
 ВРАЧИ:

1) Манульный терапевт Ситель Анатолий Болеславович – очень известный, имеет кучу регалий и высокий статус, но после трёх лет "лечения" у него я теперь жалею о потраченных деньгах, времени и главное – здоровье, которое он мне сильно испортил. Он применяет жёсткие мануальные техники, без разбора, всем крутит шею, вертит таз и дёргает за ноги. Эти три манипуляции занимают около минуты. Он делает всем пациентам одно и тоже с минимальными адаптациями. Его "лечение" поставлено на поток, - бегает между тремя кабинетами, в каждом из которых от 1 до 3 пациентов. Минута такого средневекового костоправства стоит 700 рублей(конечно же, втихую, налом его медсестре на руки). Именно этот "врач" докрутил мою шею до гипермобильности, так что теперь я лечу быстропрогрессирующий сколиоз.

2) "Специалист мягких мануальных техник" Чистюхин Игорь Александрович - бизнесмен, а не врач (так же, как и Ситель). Он не остеопат, сколиоза не понимает, лечить не умеет. Нормального образования у него нет, приехал в Москву толи из Украины, толи из Белоруссии после прослушанных курсов по ортобиономии, длительностью целых 140 часов, он теперь колбасит бабос, заманивая клиентов, раздавая советы на форуме spinet.ru Он очень уверенно убеждал меня, что он меня вылечил и сколиоз дальше прогрессировать не будет и мне нужно просто больше гулять и меньше думать о моих проблемах.
 
3) д.м.н.Алексей Анатольевич Скоблин http://william322.livejournal.com/3697.html в принципе лично о нём ничего плохого сказать не могу, он произвёл приятное впечатление. Но его методом сколиоз не вылечить, и можно даже ухудшить, так как электроды располагаются симметрично, что может вызвать ухудшение сколиотической дуги.

ХОРОШИЕ ВРАЧИ:

1) Остеопат Смирнов Александр Евгеньевич (его сайт - http://www.osteodoc.ru/). Хороший, честный врач. У меня нет опыта посещения других нормальных остеопатов, поэтому я не знаю, насколько он хорош для врача с законченным остеопатическим образованием . Но точно могу сказать, что после его сеансов у меня существенно уменьшились боли, хотя он не решил всех проблем. К тому же он берёт всего 2500 р за сеанс, что по московским меркам очень дёшево. http://william322.livejournal.com/tag/смирнов+александр+евгеньевич

2) Остеопат Литвинов Игорь Анатольевич - это лучший доктор из всех мне встречавшихся, очень умный человек, опытнейший профессионал.
В России Литвинов настоящий метр остеопатии – он обучает остеопатов, многие остеопаты считают его гуру. И я с ними согласен.
Хочу особо указать на один момент – Литвинов – ВРАЧ. Он большой энтузиаст своего дела, он искренне интерисуется телом и тем что с ним происходит. При этом он достоин уважения за предельно честный подход к пациентам. К примеру, он делает скидки тяжело больным детям. Мне последние несколько сеансов он делал скидки, так как в МОЁМ случае эффект после сеансов не держится, в последний раз вместо стандартных 3500р, он взял с меня 2000. При мне он рекомендовал пациенту другого остеопата, так как им было не удобно к нему (Литвинову) ездить. Он очень скромен, сказал, что себя до сих пор остеопатом не считает, всё ещё учится. И учится он дейтствительно много – вся стена в дипломах.

Литвинов принимает в городе Домодедово (подмосковье). Ехать 30 минут на маршутке №404 от метро Домодедовская до Авиагородка. Адрес – Проспект Туполева, дом 18, одноэтажная пристройка у жилого дома, окна с крестиками. Телефоны: 8 (499) 136-86-32 / 8 (903) 136-86-32. Сеанс взрослого 3500-4000р, дети дешевле.

Здесь есть отзывы о других остеопатах, мануальных терапевтах и наиболее интересные статьи про лечение сколиоза http://healthy-back.livejournal.com/profile

И главное, помните, что лечить сколиоз пока никто толком в мире не умеет. Есть разные направления и методы в медицине, десятки тысяч врачей, уверенных в своих представлениях о сколиозе, его причинах и его лечении. Но лечение у 99.99% этих врачей принесёт вам только вред, все эти ортопеды, хирурги, неврологи, мануальные терапевты, специалисты по лечебной гимнастике, инструкторы йоги, пилатеса, плаванья и бодибилдинга, скорее всего, вас искалечат. Поэтому не верьте ни одному врачу на слово, образовывайтесь в этой теме и не стесняйтесь задавать им вопросы.                                                                          


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Буду сюда кидать инфу по анализам.

Самые крутые лабы:
http://metametrix.com
http://www.greatplainslaboratory.com
http://www.pathology.washington.edu/clinical/collagen/index.php/available-tests/collagen-screening/ - СПЕЦИАЛИЗИУЕТСЯ НА КОЛЛАГЕНЕ!!!
http://www.immcodiagnostics.com/ - спициализируются на аутоимунной теме
Рисёрч лаба какая-то по коллагену http://rwjms.umdnj.edu/lab/collagen_research/
Рисёрч лаба какая-то по аутоиммунной теме http://www.science4u.info/virtuallab/index.htm
Какая-то китайская лаба http://www.adicon.com.cn
cytokins + cd4/cd8 - www.truehealthlabs.com/immune-evaluation-cd4-cd8-ratio/
Две статьи про разные методы диагностики аутоимунных заболеваний соединительной ткани
http://www.cdcdecanarias.org/wp-content/uploads/2010/11/Efficiency-of-different-strategies-to-detect-autoantibodies-to-extractable2.pdf
http://www.biochemia-medica.com/content/ilza-salamunic-laboratory-diagnosis-autoimmune-diseases-new-technologies-old-dilemmas
Новые лекарства из человеческих белков для аутоимунной темы http://www.sanquin.nl/Sanquin-eng/Biologicals_Patients.nsf/All/Biologicals--Information-For-Patients.html
Онлайн курсы по анализам http://www.fmtown.com/
ФМ доктора в Бангкоке http://www.bangkokhospital.com/index.php?p=result_doctor&doctor_location=1&specialtyID=281&keyword_search=&doctor_gender=&doctor_language=&sess_hospitalid=1&lang=EN&btn_search.x=24&btn_search.y=16
ФМ доктора http://www.functionalmedicine.org/findfmphysician/results.asp
ФМ доктора в Бангкоке http://betterbeingthailand.com/


Нужны:
Organic acids
Amino acids
Stool test
bone resorption
Vit A, E, D, K, K2
Токсины  и минералы в волосах, эритроцитах и моче. В моче только 24 часовой и без челайшенов. Вообще челейшан минералов  в моче это гавно.
Гормоны вроде как лучше в крови, чем в слюне.
Может потом ещё токсины разные.

Про анализ гормонов http://meridianvalleylab.com/hormone-testing/

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http://ryan-koch.blogspot.com/2011/05/my-intestinal-saga-part-7-holy-grail-of.html
http://curezone.com/forums/fmp.asp?i=1728175
http://www.slate.com/id/2282768/
http://www.edge.org/3rd_culture/sapolsky09/sapolsky09_index.html
http://www.helminthictherapy.com/ - очень интересно
http://www.hygienehypothesis.com/
http://www.instytut-mikroekologii.pl/pdf/literatura/mikroflora_jelitowa/Bacteriotherapy%20using%20fecal%20flora.pdf

PROBIOTIC THERAPY
HOME INFUSION PROTOCOL

WHAT IS A HUMAN PROBIOTIC INFUSION ?

The human bowel contains a complex population of bacteria containing several hundred different species. The colon itself is densely populated with around 500 species and more than 30,000 subspecies of various normal bacteria. These organisms and the chemicals they produce affect the body and these effects can have both positive and negative impacts on health. The human flora protects us from pathogenic or “bad” bacteria, however if a bad bacterium does implant itself into the population of normal healthy “good” bacteria, it can have a debilitating and sometimes toxic affect on our health. Due to the nature of the bacteria which are able to produce spores, it is difficult to remove the infection which can remain for many years, even a lifetime.

The use of healthy human flora appears to be the most complete probiotic treatment available today. It acts as a broad-spectrum antibiotic capable of eradicating “bad” bacteria and spores, and supplies the “good” bacteria for recolonisation.

This therapy involves the infusion of healthy human donor faeces via enema into the bowel, which is prepared prior to the procedure. This infusion process is repeated for at least five days, depending on the severity of the condition.

The treatment is expected to improve symptoms of Irritable Bowel Syndrome and potentially cure the cause of the problem. This however is not guaranteed. The treatment has demonstrated success in treating some of the most difficult cases of Irritable Bowel Syndrome.

DIETARY REQUIREMENTS
You will need to go on a LOW FIBRE DIET at least TWO WEEKS before beginning the antibiotics and during the course of the antibiotics. The following list gives you an idea of low fibre foods:

• Refined cereals – white bread, pasta, rice cakes and pastries made from white flour
• Milk (all forms)
• Butter, margarine, oils
• Chicken and fish
• Egg dishes
• Jellies, custards, mousses
• Fruit and vegetables (cut down the amount you eat and discard the peel) – the following are relatively low in fibre:

Apples Pears Melon Peaches Cherries Plums Grapes
Pumpkin Zucchini Marrow Lettuce Capsicum Cucumber Potato

Foods to AVOID:

• Pork
• Processed meats: sausages, ham, salami
• Citrus Fruits
• Nuts and seeds
• Berries and dried fruit

Your diet must change to a HIGH FIBRE DIET after your first probiotic infusion and we recommend you maintain this high fibre diet to enable the new flora to be strong enough to survive and implant. You are able to eat the following:
• Anything “wholemeal” – bread, pasta, brown rice, pulses (lentils, beans, chickpeas), muesli, fibre enriched cereals.
• All fresh fruit and vegetables, including juices
• All meat, fish and chicken
AVOID the following foods:
• Oysters, shellfish, prawns
• Processed meats
EQUIPMENT FOR THE INFUSION
Equipment to be purchased through the Probiotic Therapy Research Centre
This equipment is essential for the infusion. Price on request.
• Enema bags
• Rectal tips
Equipment to be purchased locally
• Bottles or bags of normal saline.
• Lubricant
• Latex gloves
• Psyllium husks
• Imodium tablets (Loperamide)
You will also need the following
• Somewhere to hang the enema bag from, ie nail in the wall.
• Funnel
• Tissues
• Stool collection device (disposable ‘takeaway’ container or a potty!)
• Blender
BOWEL PREPARATION
You need to purchase medication for a COLONIC LAVAGE. – Usually this is available from a chemist without prescription. This is the same bowel prep you would use if you were undergoing a colonoscopy.
SCHEDULE FOR PROBIOTIC INFUSION
ANTIBIOTICS
You will need to take one or two of the following antibiotics as per the schedule below for a minimum of 10 day. You will be advised accordingly.
TIME RIFAMPICIN VANCOMYCIN FLAGYL
Morning 1 capsule (150mg) 2 capsules (250mg) 1 tablet (400mg)
Night 1 capsule (150mg) 2 capsules (250mg) 1 tablet (400mg)
Your last dose of antibiotics will be taken
the night before your bowel washout
Diet
You should still be maintaining your low fibre diet at this point. Please refer to diet requirements section.
Bowel wash out. ( day before the first probiotic infusion )
ENSURE YOU HAVE CEASED YOUR ANTIBIOTICS BY THIS DATE
On waking in the morning:
• DO NOT EAT any solid foods.
• DRINK CLEAR FLUIDS ONLY – eg. clear soups, clear fruit juices, tea, coffee , Bonox, soft drinks.
• Follow the instructions on the back of the packet of the colonic prep starting at 10 am approximately (rather than the time mentioned on the packet).
• Drink the colonic prep throughout the day as per instructions on packet.
• IMPORTANT – please ensure you maintain your fluid intake to prevent dehydration..

COLONIC PREPARATIONS PROMOTE DIARRHOEA
Be prepared to visit the toilet regularly throughout the day

DAY ONE OF YOUR PROBIOTIC INFUSION
On Rising
In the morning, on rising, take 2 IMODIUM tablets. You only take these on the first morning of the infusion.
Diet
You will need to start your high fibre diet today as per instructions. You may have a light breakfast before commencing your daily infusions..
Infusion procedure
1. Collect donor stool in appropriate container. Place immediately into the blender with half teaspoon of the psyllium husks and between 100 – 400mls of normal saline (the volume of saline needed to make mixture ‘pourable’).
2. This should be blended for approximately 15 seconds.
3. Ensure the white ball in the bag is removed and the white clip is closed on the tubing. Pour this mixture into the enema bag via the red cap. Eliminate as much air as possible and close the red cap.
4. Once preparation is complete, recipient will lie on their LEFT side in the foetal position with lower half of body elevated.
5. Lubricate the rectal tip and gently insert the tip into the anus until you reach halfway of the blue tip.. Slowly unclamp the enema bag after hanging the bag up which will to commence the infusion. Allow 5-10 minutes for infusion.
6. Once infusion has been completed, clamp the tubing and gently remove the rectal tip (still attached to the tubing and bag). Discard the enema bag and tip and ‘double bag’ for disposal.
7. You then remain on your left side, massaging your abdomen for approximately 10 mins. Repeat this massage, lying on back, stomach and completing on your right side.
8. This procedure is repeated each day for 5 - 10 days approximately.
9. If you difficulty retaining the enema you can take Imodium or codeine as required.

REMEMBER IT’S QUALITY NOT QUANTITY

Human Probiotic Infusion

Blood work and stool testing for patients and donors
IgG
A) HEP A >
IgM
HEP B & C, HIV, CMV, EBV, RPR, TOXO SEROLOGY

B) STOOL TEST FOR: a) CELLS
b) PARASITES IN SAF FIXATIVE
c) CULTURE INCLUDING CL DIFFICLE
& TOXIN, YERSINIA,AEROMONAS & CAMP JEJUNI
d) ANTI – ADHESION ANTIBODY FOR
E. HISTOLYTICA.

C) FBC, ESR, B12, FOLATE, TSH, ANA, U& E, CREAT,
GLUC, LFTs.


HOME INFUSION
PROTOCOL

DONOR
INSTRUCTIONS

WHAT IS A HUMAN PROBIOTIC INFUSION ?

The human bowel contains a complex population of bacteria containing several hundred different species. The colon itself is densely populated with around 500 species and more than 30,000 subspecies of various normal bacteria. These organisms and the chemicals they produce affect the body and these effects can have both positive and negative impacts on health. The human flora protects us from pathogenic or “bad” bacteria, however if a bad bacterium does implant itself into the population of normal healthy “good” bacteria, it can have a debilitating and sometimes toxic affect on our health. Due to the nature of the bacteria which are able to produce spores, it is difficult to remove the infection which can remain for many years, even a lifetime.

The use of healthy human flora appears to be the most complete probiotic treatment available today. It acts as a broad-spectrum antibiotic capable of eradicating “bad” bacteria and spores, and supplies the “good” bacteria for recolonisation.

This therapy involves the infusion of healthy human donor faeces via enema into the bowel, which is prepared prior to the procedure. This infusion process is repeated for at least five days, depending on the severity of the condition.

The treatment is expected to improve symptoms of Irritable Bowel Syndrome and potentially cure the cause of the problem. This however is not guaranteed. The treatment has demonstrated success in treating some of the most difficult cases of Irritable Bowel Syndrome.

SELECTION OF DONORS

Donors are selected by the recipient on the following criteria:
• The potential donor must have a healthy bowel motion every day.
• No history of bowel problems (eg no constipation, diarrhoea, colitis etc)
• Is not on any medications that may interfere with stool viability (eg antibiotics).
As a potential donor you will be fully screened to ensure that you are free from infection. This involves a blood sample and stool tests as per the enclosed protocol

DIETARY CHANGES

The person receiving your stool (recipient) will be relying on the donor to pass a bowel motion every day. We highly recommend that you start the following changes at least one week prior to the commencement of the infusion. These changes include :
1. Avoiding foods at risk of contamination
• Avoid shellfish, prawns, oysters and processed meats such as salami, ham and sausages.
• Avoid all antibiotics.
2. You must commence a high fibre diet to improve the quality of your flora
• All breads, cereals and grain should be wholemeal. This includes bread, pasta, rice and breakfast cereals.
• Eat plenty of fresh vegetables (with the exception of corn).
• Include beans and pulses in your diet (lentils, chickpeas, beans, hommos)
• Eat at least two pieces of fruit per day
• Drink at least 1 litre of water per day.
MEAL SUGGESTIONS
Breakfast
• At breakfast have wholemeal toast, muesli or a high fibre cereal. Maybe include some yoghurt.

Lunch

• Salad sandwich with wholemeal bread and whatever filling you wish and a piece of fruit.
• Pasta with vegies
• Noodles with vegies

Dinner

• Pasta with meat, sauce and vegies
• Meat, fish or chicken with two types of vegies or salad and potatoes.
• Stir fried vegies (with or without meat) with noodles or brown rice.
• Brown rice with beans or lentils

YOUR RESPONSIBILITIES AS A DONOR

As a donor it is vitally important that you understand the instructions mentioned. There are two major points:
1. You need to make sufficient dietary and lifestyle changes for the duration of the recipient’s treatment to ensure that you will pass a bowel motion every day.
2. If you experience any of the following, please withdraw from donating:
• Diarrhoea
• Vomiting
• Cold / flu
• Any antibiotic usage

HOW TO ENSURE YOU “GO” EVERY DAY
This is the biggest concern of the donor. By following the dietary recommendations above ,you should have no problem passing a bowel motion every day.

CONTACT

If there are any questions please contact Sharyn Leis (SRN)

Probiotic Therapy Research Centre (PTRC) on 612 – 9712 7255
or
Centre for Digestive Diseases on 612 – 9713 4011

QUESTIONNAIRE FOR POTENTIAL DONORS

1. When did you last use antibiotics ?

2. Have you experienced ‘travellers diarrhoea’ ?

3. Do you or have you worked within a hospital, health care facility or child care facility ?

4. Please describe your stool quality ie is it soft, hard or runny ?

5. How frequently do you go to the toilet in a day ie once per day, twice per day or more, or once every two to three days ?

6. Do you currently have or have you recently experienced any type of abdominal discomfort ie pain / cramping or swelling / bloating ?

7. Do you currently suffer from excessive flatulence ( gas ) ?

8. Do you currently experience nausea or heartburn ?

9. Have you ever noticed blood in your stool ?

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 Надо будет изучить.


http://ryan-koch.blogspot.com/2010/03/adult-palate-expansion.html
http://ryan-koch.blogspot.com/2010/03/adult-palate-expansion-part-2-brief.html
http://ryan-koch.blogspot.com/2011/02/homeoblock-update-12711.html
http://ryan-koch.blogspot.com/2011/01/palate-expansion-update-11011-first.html
http://ryan-koch.blogspot.com/2011/01/palate-expansion-update-11011-first.html


http://www.facialdevelopment.com/papers.html


I am deformed.  I look nothing like my ancestors.  As a child, I had
braces.  I was a frequent mouth breather.  At age 16, I said bye to my
wisdom teeth.  I have only 24 teeth left.  My dental palate is not broad
and sweeping; my jaw isn't square; my nasal passage isn't wide.  I'm a
human being raised on a processed food diet, and this is the result.
 When I first read Weston A. Price's book, Nutrition and Physical Degeneration,
it was hard to find out that I'm not developmentally optimal.  I
thought, "Well, crud, there's yet another thing that's wrong with me
that can't be fixed."  I began comparing photos of myself as a child
with some of the photos from Price's book.  Here's me next to a
traditional Swiss gal:








See the lack of resemblance?  Check out the overall roundness of the
Swiss girl compared to my more narrowed facial structure.  Compare my
nasal passage to hers.  Cheek bones?  Jaw?  And, wow, how about them
teeth!  This isn't due to genetics, as many of you know.  It's all about
nutrition during the developmental years, as Price discovered.  Damn
you, margarine, sugar, and white flour!






The other day I was thinking about how it might feel the have the
facial features characteristic of the healthy cultures in Weston
Price's studies as opposed to the narrow palate, brace-straightened
teeth, weak jaw, narrowed nasal passage, and lackluster cheek bones that
characterize my own facial structure.  If I were all of the sudden
blessed with an optimal facial structure and all the teeth the good Lord
intended me to have, would I breath easier?  Speak better?  Smile more
fully and more often?  Have less tension in my jaws?  Feel a heightened
sense of well-being?  While it's interesting -- if not somewhat
depressing -- to imagine such a possibility, I never thought once that
this would ever be achievable.  I guess you can say that's why I've come
to terms with my deformed self.  I can't change it, can I?  What other
choice do I have besides acceptance of my not-so-optimal lot in life?
 Sigh.






I was impressed by a study about two twins recently referenced in Wise Traditions,
the Weston A. Price Foundation journal.  One twin received palatal
expansion, while the other did not.  Here's a photo that shows the
dramatic difference in the two -- not just in their teeth, but their
overall facial structure:





Impressive, eh?  It's readily apparent that dental appliances can make a
huge difference towards regaining the facial structure of our
ancestors.  But I'm far beyond the developmental time period during
which such devices can help me attain a facial appearance closer to that
of the human genetic blueprint, right?  These things only work for the
growing child or teenager.  At age 18, the bone plates are fused, and
there's no budging them.  Once you're an adult, there's no room for any
adjustments, right?  Well, I began to wonder: Is there such a thing as
adult palatal expansion?  And, if so, would it make any difference
health-wise if I were to apply such technology to my own head?  Let's
just find out.  (Google, you are my friend.)






The first website I came across, called Facial Development,
is absolutely fascinating.  It's authored by Theodore R. Belfor, DDS,
who has a clinic in New York state that actually specializes in
expanding adult palates using a dental appliance called a Homeoblock.  From his website:






The Homeoblock™ appliance
is a revolutionary patented oral device that is much like a retainer in
looks, but the results go way beyond teeth straightening...The Homeoblock™ appliance
works with the body, so that physiological changes occur naturally;
developing the bones of the face and resulting in the strengthening of
facial muscles. These changes occur due in large part to each person’s
genetic potential  Often, facial development does not reach its
potential due to the food we eat, polluted air and poor dental care to
name a few.






Wow.
 A dentist who acknowledges that facial development is influenced by
diet?  I wonder if he knows about Dr. Price.  Browsing the website
further, I came upon a paper that Dr. Belfor wrote called, "Facial Changes as a Result of Palatal Expansion in Adult Patients Using the Homeoblock Appliance."  Check out this before and after 3d image taken of one of his patients who used a Homeoblock:





Look closely and notice the differences in the cheek bones,
chin, and lips.  Pretty incredible.  So not only does palatal widening
make for straighter teeth, it also induces significant changes in the
overall facial structure -- even in adults.  Dr. Belfor markets his work
as a way of creating a more youthful appearance in addition to
straightening teeth.  An interesting effect of palatal widening is
reduced wrinkles.  But he's also very enthusiastic about other changes
that occur with the procedure (emphasis mine):






 I
am experiencing the most incredible excitement on a daily basis. I
routinely expand adult underdeveloped maxilla and mandible taking the
teeth along for the ride. There are many different goals, as many as
there are different patients. However, the result is always the same; more prominent cheekbones, wide smiles, and strong jaws!"  






Prominent cheek bones?  Wide smiles?  Strong jaws?  Is this guy Weston
Price incarnate?  So, wait a minute, how can any of this actually work
if the bones are fused by age 18, as is commonly believed?  Well, let's
let Dr. Belfor answer that one:






Bone
is essentially plastic in nature. Tension and intermittent pressure
persuade the bones to redefine at any age. In fact, our typical patient
is between 30 and 60 years old. In the upper dental arch nature has
provided a suture line front to back between the two bones that form the
palate. This allows for an easy widening process and as the palate
expands, the cheekbones as well, creating more prominence.






Okay,
so maybe there's a chance for a "deformie" like me to experience
optimal facial structure after all!  I would like a second opinion,
though.  I  mean, isn't there a possibility of teeth relapsing or other
complications happening?  Let's see what one scientific study
had to say about adult palatal widening procedures and the risks
involved, in this case using an implement called a Haas expander:






Rapid
maxillary expansion (RME) in the adult is thought to be an unreliable
procedure with several adverse side effects and, consequently,
surgically assisted RME is considered the preferred procedure...Rapid
maxillary expansion using a Haas expander was examined in 47 adults and
47 children...The results indicate that nonsurgical RME in adults is a
clinically successful and safe method for correcting transverse
maxillary


arch deficiency.






This study
had a follow-up time of an average 5.9 years, and the patients' teeth
remained in place.  Here's a dramatic before-and-after image from the
study showing one case of palatal expansion, a 30-year-old female:




Now
that's just amazing.  30-years-old and there's still room for
correction of the dental arch.  I wonder, though, are there any health
benefits to having the palate expanded and the resultant craniofacial
changes that take place?  Dr. Belfor, what do you think?






Orthopedic
jaw development, particularly arch expansion, allows for improved sinus
drainage and widens airflow passages. This can result in snoring
reduction and lessened symptoms of sleep apnea...Voice enhancement.
Improved facial balance and skin tone. Arresting and reversing the
premature aging of the face. 






 Sounds
to me like it would be worth it.  Only one problem, I have no idea how
much the procedure actually costs.  I'm sending an e-mail to Dr. Belfor
to find out.  Also, I'm going to ask him if he's influenced at all by
Weston A. Price, as he seems right there with the 1930s dentist
philosophically.  If anybody out there has more information on the
procedure, please leave your comments.






Here's one more link with an article and video on adult palate expansion: "Skull Stretching."





Adult Palate Expansion, Part 2: A Brief Chat with Theodore Belfor, DDS


As a follow-up to my last post on palate expansion in adults, I decided to give Dr. Theodore Belfor a call to find out more about his Homeoblock
palate-widening appliance, as well his background and interest in the
subject of craniofacial changes.  What followed was a brief, yet
fascinating chat that delved into many subjects.  Here's a bulleted
summary our conversation.



  • The cost of the Homeoblock procedure: anywhere
    from $2600-6000, depending on your own personal facial structure, which
    can be evaluated at Dr. Belfor's clinic in New York through a catscan
    and 3d image analysis.  He tries to keep the cost of the Homeblock close
    to the popular teeth-straightening product, Invisalign


  • Human de-volution: Dr. Belfor acknowledges that human beings
    have rapidly devolved in a very short amount of time -- i.e. the last
    100 years.  While Darwin's theory of evolution recognizes changes in
    species over millenia, our rapid de-evolution is an indication that
    something we are doing externally is influences our physical
    deformities.  He suggests diet and pollution as main causes.  


  • Epigenetics: (This is the changing of genes through
    influences other than DNA -- i.e. facial deformities)  Dr. Belfor
    believes this is going to be the most important field in science in the
    21st century as people come to realize that many of us are not
    expressing our genes fully and that we must find out why and do
    something about it.


  • Sudden infant death syndrome: Recently, Dr. Belfor spoke with
    a doctor in Australia who connects craniofacial deformities with sudden
    infant death syndrome.  With a lacking craniofacial development, the
    9th (Glossopharyngeal) nerve in the head, which controls swallowing, gag
    reflex, and speech, could very well play a role in SIDs in that
    arterial blood flow to it may be be restricted, which could lead to a
    lack of signaling to baroreceptors, Belfor says.  Baroreceptors signal
    the central nervous system to regulate blood pressure levels and with
    their malfunction could lead to possible cardiac arrest.  (Hopefully I'm
    getting all of this right.)


  • Weston A. Price, DDS: Dr. Belfor is familiar with Nutrition and Physical Degeneration and
    says that Price's research is the basis for the realization of our
    physical deformities and, thus, influences any dental work (including
    his) that seeks to restore the facial structure of the human genetic
    blueprint.

Unfortunately, Dr. Belfor had to leave the conversation
somewhat abruptly because he had patients to tend to, but I'm extremely
grateful that he was willing to speak and share what he did for the ten
minutes we were on the phone.  It seemed that if he was not busy, he
would have talked to me for much longer, as he definitely has a passion
for what he does and seems to enjoy very much sharing that passion with
others -- even if they are some random blogger/independent health
researcher like myself.  What a great guy!  If I was in the New York
area, I would not hesitate to go in for a craniofacial evaluation.





Palate Expansion Update, 1/10/11: First Appointment






Brief break from "My Intestinal Saga" to bring all you readers out there an update on my palate expansion pursuits ...






I'm a few weeks away from being an official homie on the block.  I recently took a trip to Flagstaff, AZ for my first Homeoblock appointment.  The dentist, Scott Darlington,
was very pleasant and shared his excitement about the procedure.  It's
rare that people come to him for adult palate expansion, which he thinks
is unfortunate because the benefits are so great -- particularly in
opening up the airways.  I told him I was interested to see how my
craniofacial structure would change and whether or not this procedure
would provide any significant benefits for me.
For this initial appointment, I had a short dental check-up
followed by my mouth being filled with plaster to make forms of my upper
and lower palate -- all of which was completely painless.  These forms
are currently being sent to a lab where they will be used to manufacture
my own custom Homeblock.  This usually takes a few weeks.  I plan on
returning to Dr. Darlington's office in Flagstaff to pick up my
appliance around mid-February on my way to Wintercount.
 For the first few months, Dr. Darlington recommends wearing the
Homeoblock as much as I can, including daylight hours.  After this, I
will only have to wear it at night and it will be recreated every few
months to continue optimal expansion.  The cost for all of this --
appointments, new appliances, and all -- is $2000.  I payed up front for
a substantial discount of $250, so the final cost was $1750.
 I'm
looking forward to looking like a retainer-wearing teenager for a short
time -- maybe I'll even have a cool accent like Shelly from South Park.





Palate Expansion Update, 2/27/11: Finally Got It!



The Homeoblock appliance with case and advancement tool.
On my way home from Arizona, I swung by Dr. Darlington's
office for an appointment to fit my Homeoblock and take it home with
me.  Dr. Darlington, as usual, was very kind and accommodating to my
needs as a patient living six hours away, scheduling the appointment for
when it was most convenient for me.  The Homeoblock fitting and
insertion procedure took about a half-hour due to the upper palate
device not fitting very well.  It was a back-and-forth scenario with Dr.
Darlington inserting the appliance and then me giving him feedback on
how it felt.  There was some discomfort around my gums, and he adjusted
the Homeoblock with small pliers to fix it (similar to what is seen in
this training video by Dr. Belfor).
 I was pretty surprised how easy and painless it all was.  I was also
relieved to find out that I would only be wearing the appliance at
night, rather than all day and night for a few months as I initially
thought.






The upper Homeoblock fit well enough, although I still felt that it
wasn't optimal.  Dr. Darlington said I could adjust the wiring as I
needed to when I got home with my fingers, so I wasn't too worried about
it and decided to get back on the road.  The Homeoblock was given to me
in a retainer-like case with an adjustment tool to advance the
appliance a quarter turn each week.  It's a pretty slick system.






At home, I made sure to take some "before" pictures to compare later
down the line when I finally look like the Neanderthal that I've always
wanted to.  Kidding.  But it will be interesting to see what changes
occur, however subtle.  Here's some of my mug shots to show you all what
I'm working with.  Please understand that I sacrificed a great beard so
that my facial structure can be seen for what it really is -- all in
the name of science.  First face pictures:





Note the yellow line above that I drew on my face to illustrate its lack
of symmetry.  The left side appears to droop down, particularly
noticeable by observing the eyes and lips.  In the picture on the right,
you'll notice that while smiling there is a definite natural face lift
going on for me, but there is still marked asymmetry around the nose.
Now let's take a look at my glorious upper and lower palate as they are
now.





On the far left, you can see how my teeth come together off centered.
 My lower palate (center) is pretty narrow and my front teeth are
slightly overlapping due to years of shifting (I got my braces off at
age 13).  On the right is my upper palate and a similar process is
underway with one tooth in particular poking out a bit.  Of course, also
note that neither palate has the wisdom teeth courtesy of my high
school orthodontist.






After analyzing my facial features and chompers, I was excited to try
the much-anticipated Homeoblock out that night.  I inserted it right
before bed, slept through the night fine (besides a little excessive
drooling), and woke up to fairly sore teeth.  Things were definitely
moving!  My jaw felt like it had a bit of a workout.  I could still eat
solid foods and the soreness went away after a few hours in the day.
 The next night, I decided to try to adjust the upper Homeoblock to get
it to fit better.  I toyed around with it a bit much, apparently, as one
of the wires snapped!  "Well, it was an interesting $1700 experiment
while it lasted," I thought to myself.  So I wore only the bottom palate
that night.  I called Dr. Darlington the following day to inform him of
what had happened.  He said to just send it to him and he can get it
fixed, and since it still seemed to not fit well, he would replace the
broken wire with a "ball joint" to see if that helped.  If it didn't we
could just have a new upper palate Homeoblock made from a freshly formed
cast of my mouth.  Great!  I really feel supported by Dr. Darlington,
and I'm grateful that this is all covered under the initial cost that I
paid.






So I should get my upper Homeoblock back next week sometime.  Until
then, the doc said that it would be fine to wear my lower palate
appliance.  I will update everyone once I pass the two or three week
mark with that.  Also, I would like to compare the Homeoblock with Damon
Braces at some point.  I am awaiting Dr. Belfor's thoughts on this
subject when he returns from traveling.






One more thing.  Those of you interested in the subject of adult facial
enhancement should drop by Nourishing Nancy's website to keep up with
her updates on the Damon Braces system.  She has already seen very significant results!


.


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..пока они не улетели.


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Да, я вегатарианец! Не очень строгий..я ем свинину..и говядину...


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К чёрту зелень - салат из мяса!


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