The pattern of expression of desmin, vimentin, titin and different myosin isoforms expressed in atrophic and hypertrophic type I and type II muscle fibers was investigated in 7 biopsies from patients ...of various ages all diagnosed as suffering from Werdnig-Hoffman's disease. The results revealed that there was a progressive atrophy affecting both type I and type II muscle fibers. The proportion of atrophic type II fibers increased with age. These atrophic fibers expressed predominantly fast MHC together with variable amounts of embryonic and fetal abnormal concentrations of desmin, vimentin and titin were also observed in some of these fibers. Hypertrophic type I fibers expressed exclusively slow MHC. These results are in good agreement with the hypothesis that Werdnig-Hoffman's disease is associated with a persistence of slow twitch type I motor units and a loss of phasic type II motor units. They also confirm that the atrophic fibers were frequently immature although embryonic MLC was never detected in these muscles. In addition we have demonstrated that the hypertrophic fibers were not completely normal since they frequently contained abnormal concentrations of desmin and titin at their periphery.
To investigate the value of measuring total plasma protein and hemoglobin concentrations for the diagnosis of pulmonary edema secondary to scorpion envenomation.
Retrospective study over a 4-year ...period in the medical intensive care unit of a university hospital.
67 patients older than 3 years admitted in the intensive care unit for scorpion envenomation and stratified into two groups according to the presence of pulmonary edema assessed by a medical committee that took into account clinical, radiological, and blood gas data at admission and after treatment. Total plasma protein and hemoglobin concentrations were analyzed separately.
At admission all patients with and without pulmonary edema exhibited polypnea and tachycardia. The mean plasma protein and hemoglobin concentrations were higher in patients with pulmonary edema (74+/-6 and 14.2+/-2.0 g/dl, respectively) than in those without pulmonary edema (64+/-6 and 12.3+/-1.4 g/dl). After 24 h plasma protein and hemoglobin concentrations decreased in the pulmonary edema group (-11 and -1.9 g/dl) despite a negative fluid balance (-500 ml). A plasma protein concentration of 70 g/l or more predicted the presence of pulmonary edema with a sensitivity of 80% a specificity of 96%, a positive predictive value of 97%, and negative predictive value of 77%.
In scorpion-envenomed patients with cardiorespiratory manifestations high plasma protein and hemoglobin concentrations suggest the presence of pulmonary edema.
The LGMD2C linked to chromosome 13q and related to a 35 KDa dystrophin-associated glycoprotein deficiency, is very similar to Duchenne muscular dystrophy with an autosomal recessive inheritance. It ...is characterized by a variability of the age of onset, the severity of the evolution and the severity of myopathic changes at the muscle biopsy. This variability was also present in the expression of the α-sarcoglycan between the same sibships and between different families.
The most common autosomal recessive ataxia is Friedreich's ataxia (FA), characterized mainly by an early onset, absent tendon reflexes, deep sensory loss, cerebellar and Babinski signs. Screening the ...patients from families with classical FA features, we found that some families were excluded from the FA locus on chromosome 9, and are associated to isolate vitamin E deficiency. The similarity of the clinical data between FA with and without vitamin E deficiency was remarkable. The disorder with vitamin E deficiency often confused with FA, is currently known as linked to chromosome 8q. Therefore it is important to test vitamin E levels in all patients suspected to have FA, since the alpha tocopherol supplementation may be efficient in early stages of the disease.
We describe a 35-year-old male admitted to the intensive care unit (ICU) for acute exacerbation of chronic obstructive pulmonary disease (COPD). He developed ventilator-associated pneumonia caused by ...multidrug-resistant Pseudomonas aeruginosa and was treated with imipenem and colistin without any renal toxicity. The patient was readmitted to the ICU for a 2nd and a 3rd exacerbation of COPD and was again treated with imipenem and colistin. In both episodes, he developed rapid worsening in renal function, which improved following colistin withdrawal. Use of the Naranjo ADR probability scale indicated a probable relationship between the renal failure and the colistin therapy. In addition, the time course of events suggested that colistin was the cause of acute interstitial nephritis in this patient. We conclude that our patient had a possible acute allergic reaction to colistin since the 1st introduction was not associated with any renal toxicity and renal failure was observed on the 1st day of the 2nd and the 3rd initiation of colistin therapy, respectively.
Muscle biopsies taken from 4 patients with clinical diagnosis of Schwartz-Jampel syndrome were analyzed by enzyme-histochemical immunocytochemical and biochemical techniques. In situ distribution of ...the different myosin heavy chain (MHC) isoforms together with that of the cytoskeletal proteins vimentin, desmin and titin was determined in type I, type IIA, type IIB and type IIC fibers. The same muscle biopsies were analyzed for their content in myosin light chains (MLC) by two-dimensional gel electrophoresis and native myosin isoforms by pyrophosphate gel electrophoresis. The opportunity to study 4 patients of different ages, all members of the same family, permitted us to reveal several interesting features in this rare and so far poorly understood muscle pathology. (i) We observed a predominance of slow (type I) fibers in the oldest patient. (ii) Two classes of small clusters of atrophic type IIC fibers were observed. The first class corresponded to fibers which coexpressed embryonic, fetal and fast, but not slow, MHC isoforms. The fibers also displayed an abnormal distribution of desmin, vimentin and titin. The second class was composed by fibers coexpressing embryonic, fetal, fast and slow, MHC isoforms. In contrast to that observed for the first class, fibers in the second class displayed a normal pattern of expression of desmin, vimentin and titin. (iii) A familial heterogeneity was observed between the 4 patients. The pathological processes involved in the evolution of this syndrome are discussed.
In post-natal kittens which were given injections of HRP in the suprasylvian gyrus (polysensory cortex), the cortico-cortical connections were studied qualitatively and quantitatively. These ...connections originate essentially from cortical cells localized in cortices of the upper part of the hemisphere. They are formed preferentially with cortices involved in the visual function. Connections between the cingulate, prefrontal and area 19 cortices, have been described here. Layers III and V are quantitatively the most highly involved in these connections. The number of connections is related to axon length: the connections are more numerous the shorter the neuron axons, and thus the nearer they lie to the cortex injected. The HRP+ cells appear first in the cell layers which will subsequently be most marked quantitatively. The cortico-cortical connections appear in the following order: connections of medium length, then short, then long. The system of cortico-cortical connections of the injected cortex forms chronologically during the first 3 weeks following birth in the following order: 1st week: Connections of primary nuclei to primary cortex, 2nd week: Connections of non-primary cortex to non-primary cortex, 3rd week: Connections of primary cortex to non-primary cortex.
Fourteen patients belonging to eight families were studied. At least one member of each family presented a clinical picture of spinocerebellar degeneration (SCD) and lowered motor nerve conduction ...velocity (MNCV). Muscular atrophy of the Charcot-Marie-Tooth type was found in 11 cases. The average MNCV of the median nerve was less than half the value in the controls (P less than 0.001). Morphometric analysis of the superficial peroneal nerve showed a considerable reduction (P less than 0.001) in myelinated fibres, primarily those of large diameter (P less than 0.001), a high average density of onion bulb formations, and a large percentage (P less than 0.001) of teased fibres showing aspects of segmental demyelination, with or without remyelination. These results indicate the presence of a hypertrophic neuropathy (HN) associated with the SCD. In most cases, this HN bore the electrophysiological and morphological features of type I hereditary motor and sensory neuropathy. In certain cases, however, there was an individual and intra-familial discordance of the electrophysiological and histological aspects, which may correspond to a difference in phenotypic expression, or to mutant genes. It is possible that a single disease is involved, assuming the clinical appearance of both SCD and HN, the biochemical support of which remains to be determined.
Peripartum cardiomyopathy (PPCM) is a rare and life-threatening disease of unknown aetiology. The primary objective of this review was to analysed aetiopathogeneses, clinical presentation and ...diagnosis, as well as pharmacological, perioperative and intensive care management and prognosis of this pathology.
We undertook a systematic review of the literature using Medline, Google Scholar and PubMed searches.
Unlike other parts of the world in which cardiomyopathy are rare, dilated cardiomyopathy is a major cause of heart failure throughout Africa. Its aetiopathogenesis is still poorly understood, but recent evidence supports inflammation, viral infection and autoimmunity as the leading causative hypotheses. This diagnosis should be limited to previously healthy women who present with congestive heart failure (CHF) and decreased left ventricular systolic function in the last month of pregnancy or within 5 months after delivery. Recently, introduction of echocardiography has made diagnosis of PPCM easier and more accurate. Conventional treatment consists of diuretics, vasodilators, and sometimes digoxin and anticoagulants, usually in combination. Patients who fail to recover may require inotropic therapy. In resistant cases, newer therapeutic modalities such as immunomodulation, immunoglobulin and immunosuppression may be considered. Prognosis is highly related to reversal of ventricular dysfunction. Compared to historically higher mortality rates, recent reports describe better outcome, probably because of advances in medical care. Based on current information, future pregnancy is usually not recommended in patients who fail to recover normal heart function.
PPCM is a rare but serious form of cardiac failure affecting women in the last months of pregnancy or early puerperium. Its aetiopathogenesis is still poorly understood. Introduction of echocardiography has made diagnosis of PPCM easier and more accurate. Prognosis is highly related to reversal of ventricular dysfunction.
The objective of this work was to review current data about the pathophysiology, clinical features, and treatment of thrombotic microangiopathies.
Thrombotic microangiopathies are microvascular ...occlusive disorders characterized by systemic or intrarenal aggregation of platelets, thrombocytopenia, and mechanical injury to erythrocytes. In thrombotic thrombocytopenic purpura, systemic microvascular aggregation of platelets causes ischemia in the brain and other organs. In the hemolytic-uremic syndrome, platelet-fibrin thrombi occlude predominantly the renal circulation. Thrombotic microangiopathy is a rare disorder whose varied clinical manifestations result from the formation of platelet-rich thrombi within the microvasculature and consequent tissue ischemia. The clinical features are acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. This diagnosis is of considerable importance because of the possible fulminant clinical course. Some atypical forms may be unrecognized. Plasma exchange is the current reference treatment of thrombotic thrombocytopenic purpura. However, in the light of recent publications, either infusions of concentrates of purified enzyme or more intensive immunosuppressive therapy would be more specific.
