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Background The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. Methods We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared. Results Twelve patients (7 males) were identified. Median age at symptom onset was 24 years [IQR = 15.5; 36.0]. At baseline ventilation was invasive in 11 patients and noninvasive in one, with a median ventilation time of 24 h [IQR = 21.88; 24.00] (min 20; max 24). ERT was initiated at a median age of 52.5 years [IQR = 35.75; 66.50]. Median treatment duration was 55 months [IQR = 39.5; 81.0]. During observational period no adverse reaction to ERT was recorded, five patients (41.67%) died, three decreased their ventilation time by 30, 60 and 90 min and two increased their assisted walking distance, by 80 and 20 m. Conclusion Some patients at a very advanced stage of Pompe disease may show a mild benefit from ERT, in terms of increased time of autonomous ventilation and of enlarged distance in assisted walk. ERT can be initiated in these patients in order to retain their current level of independence and ability to perform daily life activities.

Resume Introduction La necrose medullaire, caracterisee par une necrose des progeniteurs hematopoietiques, des ilots adipocytaires et de la trame de reticuline, est une pathologie tres rare. Observation Nous rapportons l’observation d’une patiente de 62 ans admise en reanimation pour une necrose medullaire etendue compliquant l’evolution d’une thrombocytemie essentielle associee a un choc septique sans germe retrouve, amenant rapidement au deces dans un contexte de defaillance multiviscerale. Il s’agit, a notre connaissance, du deuxieme cas rapporte dans la litterature a ce jour. Sa presentation clinique est aspecifique et associe douleurs osseuses et fievre, et parfois un syndrome d’insuffisance medullaire. La biologie peut montrer des cytopenies diversement associees, une elevation des LDH et des phosphatases alcalines osseuses. Le diagnostic est histologique, obtenu apres biopsie osteomedullaire. La necrose est dite etendue si elle concerne plus de 50 % du cylindre biopsique. Cette pathologie est associee dans 90 % des cas a une hemopathie maligne (notamment les leucemies) ou a une tumeur solide le plus souvent gastro-intestinale ou pulmonaire. D’autres etiologies regroupent la drepanocytose ou le syndrome catastrophique des anticorps antiphospholipides, la thrombocytemie essentielle etant exceptionnellement responsable d’une necrose medullaire. Conclusion Toutes causes confondues, le pronostic de la necrose medullaire etendue est generalement sombre sauf en cas de traitement precoce et intensif, notamment chez les patients drepanocytaires chez qui peut s’observer une regeneration medullaire complete.

Anorexia nervosa can be a life-threatening eating disorder when complicated with electrolyte disturbance, gelatinous transformation of the bone marrow or starvation induced acute hepatitis. We report a 43-year-old woman suffering from anorexia nervosa for more than 25 years, who was admitted in intensive care unit for a fluctuating level of consciousness related to starvation-induced acute hepatitis. Gelatinous transformation of the bone marrow was also diagnosed. Those two entities are rare and, to our knowledge, have not been previously reported jointly in anorexia nervosa.

• - Neurologic control of lung vascular tone ◦ • Cholinergic system: - - mediators - - muscarinic receptors - - mechanisms of action ◦ • Non-adrenergic non-cholinergic system: - - definition - - mediators ◦ • Reflex mechanisms ◦ • Interactions between endothelium and neural mechanisms • - Humoral control of lung vascular tone ◦ • Atrial natriuretic peptide ◦ • Vasopressin ◦ • Angiotensin-II ◦ • Kinins ◦ • Histamine ◦ • Serotonin ◦ • Free radicals: - - hydrogen peroxide - - superoxide anion - - peroxinitrite

Problems related to the study of pulmonary vasomotility - Constriction/dilation of the vascular smooth muscle: ionic mechanisms · Calcium movements: - through sarcoplasmic reticulum - through cytoplasmic membrane · Potassium channels · C-protein kinases · G-proteins · Cyclic nucleotids - The endothelium · Paracrine role of the endothelial cell: - nitric oxide - endothelium-derived hyperpolarizing factor - eicosanoids - endothelins · Endothelial metabolism of vasoactive peptides: - angiotensin-converting enzyme - neutral endopeptidase - endothelin-converting enzyme.

Peripheral nerve biopsies (PNB) from four children suffering from subacute or chronic inflammatory demyelinating polyneuropathy were studied by electron microscopy. Remyelinating features with onion bulb formations, inflammatory cell infiltrates and active demyelinating lesions were strongly suggestive of the disease. In the first case, a second PNB, performed after 7 months of severe subacute course, showed a striking evolution of the lesions. In the second case and in spite of severe neurological symptoms, the PNB was almost normal, suggesting that inflammatory lesions were mainly located in the proximal parts of the nerve. No signs of active demyelination could be seen in the third case but onion bulb formations and inflammatory cell infiltrates were present. In the fourth case, characteristic lesions of active demyelination were associated with a history of familial polyneuropathy; this association suggests an auto-immune process in certain kindreds with hereditary motor and sensory neuropathy.

Nitric oxide (NO) has been reported to be an endothelium-derived relaxing factor, and hypoxic pulmonary vasoconstriction seems to be enhanced by inhibitors of endothelially dependent vascular relaxation. We examined the circulatory effects of inhalation of 15 ppm NO in air in 14 hypoxic patients suffering from chronic obstructive pulmonary disease (COPD). Of these patients 4 breathed 100% O2 before NO. The effects of NO inhalation on pulmonary gas exchange were also studied in 12 of these patients using the multiple inert gas elimination technique, 3 of whom breathed air, 100% O2, and 15 ppm NO in air in succession. Under baseline conditions, both mean +/- SD pulmonary artery pressure and pulmonary vascular resistance were increased (Ppa = 24.3 +/- 10.4 mm Hg and PVR = 3.3 +/- 1.1 mm Hg/L/min, respectively). Although the pulmonary circulatory effects were not immediate, with no detectable changes after 1 min NO inhalation, Ppa and PVR fell significantly (-19.1 +/- 10.5%, p0.02 and -29.3 +/- 15.1%, p0.02, respectively) after 10 min NO inhalation. Moreover, the extent of the NO-induced reduction in Ppa was found to depend on the level of baseline pulmonary arterial hypertension. No systemic circulatory effects were observed. The mean VA/Q ratio and the dispersion of ventilation and blood flow distributions were not altered by NO inhalation, although there was a significantly higher percentage of ventilation (7.3 +/- 7.3%, p0.05) in poorly and unperfused areas (VA/Q10).(ABSTRACT TRUNCATED AT 250 WORDS)

Twenty-nine patients with fulminant hepatic failure and at least grade III encephalopathy were treated by haemodialysis with a polyacrylonitrile membrane. Aetiology was toxic in five patients, viral in eleven (2 due to hepatitis A virus and 9 presumed due to hepatitis B virus), not found in thirteen. Each patient was dialysed for 4 h every day, until he regained consciousness or died. Conscious level was improved after dialysis in 59% of patients. Thirteen patients survived (44.8%) :4 toxic hepatitis, 4 viral hepatitis B, 1 viral hepatitis A, 4 hepatitis of unknown aetiology. A comparison of plasma concentrations of amino acids measured by chromatography before and after 113 periods of haemodialysis in 23 patients showed significant decrease in aromatic amino acids (p less than 0.001), a significant increase in two branched-chain amino acids :leucine (p less than 0.001) and isoleucine (p less than 0.001), and a significant increase in Fischer's ratio (p less than 0.001). In survivors, factor V concentration on admission and Fischer's ratio on admission were significantly higher than in those who died (p less than 0.02 for both), but there was no significant difference in the difference between Fischer's ratio before and after haemodialysis. Haemodialysis was well tolerated, except for short periods of hypotension and a small but significant fall in platelet counts. Improvement in cerebral function during haemodialysis was previously demonstrated by various authors, but the effect on survival rate remained controversial. The survival rate obtained in this controlled study is clearly higher than those obtained by conservative management alone.

Pulmonary gas exchange in Andean natives (n = 8) with excessive high-altitude (3,600-4,200 m) polycythemia (hematocrit 65.1 +/- 6.6%) and hypoxemia (arterial PO2 45.6 +/- 5.6 Torr) in the absence of pulmonary or cardiovascular disease was investigated both before and after isovolemic hemodilution by use of the inert gas elimination technique. The investigations were carried out in La Paz, Bolivia (3,650 m, 500 mmHg barometric pressure). Before hemodilution, a low ventilation-perfusion (VA/Q) mode (VA/Q less than 0.1) without true shunt accounted for 11.6 +/- 5.5% of the total blood flow and was mainly responsible for the hypoxemia. The hypoventilation with a low mixed venous PO2 value may have contributed to the observed hypoxemia in the absence of an impairment in alveolar capillary diffusion. After hemodilution, cardiac output and ventilation increased from 5.5 +/- 1.2 to 6.9 +/- 1.2 l/min and from 8.5 +/- 1.4 to 9.6 +/- 1.3 l/min, respectively, although arterial and venous PO2 remained constant. VA/Q mismatching fell slightly but significantly. The hypoxemia observed in subjects suffering from high-altitude excessive polycythemia was attributed to an increased in blood flow perfusing poorly ventilated areas, but without true intra- or extrapulmonary shunt. Hypoventilation as well as a low mixed venous PO2 value may also have contributed to the observed hypoxemia.

As has been shown during the course of experimental allergic neuritis, in the Guillain-Barre syndrome there is an invasion of the myelin sheath in certain fibres by a mononuclear cell, with an intact axon. In a series of 45 cases we have been able to show this feature in 31 cases. In certain cases the cytoplasm prolongation of the invading cell was seen in the myelin sheath, forcing apart two neighbouring layers.