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Biomedical subjects

P Brochu

Publications and source records attributed to P Brochu.

At least 55 records · Page 3Linked to original sources
PubMed1985

EMG and needle muscle biopsy studies in arthrogryposis multiplex congenita.

From 1979 to 1983, EMG and/or muscle biopsy studies were done in twenty-one of twenty-two patients seen in our institution for the first time for arthrogryposis multiplex congenita (AMC). Most of the muscle biopsies were done with a needle. As expected, the final diagnosis in these patients was very heterogeneous since it is well recognized that AMC can be due to any factor that interferes with fetal mobility. We found however a surprisingly high number of patients (9/22) affected by a myopathic disease. Based on these results, we feel that needle muscle biopsy should be included as a routine procedure in infants affected by AMC since by clarifying the diagnosis it helps in improving genetic counselling and prognosis in these patients. It is now widely accepted that arthrogryposis multiplex congenita (AMC) is not in itself a disease but is secondary to any factor that interferes with fetal movements. The joint deformities seen in these children can be due to mechanical factors (oligohydramnios for example), central or peripheral nervous system disorders, muscle diseases... (Dubowitz 1978, Hageman and Willemse 1983, Hall 1981, Swinyard 1982). However, the relative frequency of each etiologic factor remains unclear since in spite of the abundant literature on the subject, we found only three reports describing the findings of electromyographic (EMG) and muscle biopsy studies done systematically in unselected groups of children affected by AMC (Amick et al 1967, Bharucha et al 1972, Dastur et al 1972, Kullmann and Szijj 1973). Furthermore, each article reached different conclusions in regard to the occurrence of these various etiologies in their respective patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Arthrogryposis↗
PubMed1984

A progressive neurological syndrome associated with an isolated vitamin E deficiency.

Several authors have recently reported a neurological disorder associated with chronic vitamin E deficiency in man. Except in one patient, this deficiency has always been secondary to an underlying disease resulting in lipid malabsorption. We report a second case of such a neurological syndrome in a patient in whom vitamin E deficiency was an isolated finding. The clinical picture in our patient was characterized by a diffuse muscle weakness most prominent distally and in the lower limbs, generalized areflexia, a decrease in proprioception and vibration sense and slight limb and gait ataxia. His condition improved on alpha tocopherol therapy so that it is very likely that vitamin E deficiency is responsible for his neurological deficit. Since in our patient as well as in several other reported cases this condition has been treatable, it is important that this syndrome be recognized in children presenting a suggestive clinical picture even if they do not have lipid malabsorption.

Ataxia↗
PubMed1984

The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy.

Andermann et al. described in 1972 an autosomal recessive inherited syndrome which associates agenesis of the corpus callosum, mental deficiency, and a peripheral motor deficit. We had the opportunity to study in detail 15 patients affected by this syndrome. As in the cases previously reported, the families of these children all originated from Charlevoix County and the Saguenay-Lac St-Jean area in the Province of Quebec. Clinically, these patients have a characteristic facies and moderate mental retardation associated with a progressive motor neuropathy leading to loss of ambulation by adolescence and progressive scoliosis. In 13 of these 15 patients, neuroradiological investigation has shown either total or partial agenesis of the corpus callosum. In every patient in whom these tests were done, sensory nerve action potentials were absent and motor nerve conduction velocities reduced. We also found neurogenic abnormalities both on EMG and neuromuscular biopsies. These abnormalities are similar to those described in Friedreich's ataxia and in hereditary motor and sensory neuropathy type II, although in our patients the motor deficit is much more severe than in these diseases. The pathogenesis of the peripheral nervous system involvement is still unknown since there have so far been no autopsy studies of this syndrome.

Adolescent↗
PubMed1984

Giant cell pneumonia due to respiratory syncytial virus. Occurrence in severe combined immunodeficiency syndrome.

A 6-month-old male infant with a severe combined immunodeficiency syndrome was hospitalized for progressive respiratory distress. Examination during hospitalization disclosed widespread pulmonary infiltrates that did not respond to intensive therapy. The patient died eight days after admission. Autopsy disclosed Pneumocystis carinii pneumonia and widespread giant cell pneumonia. Respiratory syncytial virus (RSV) was grown from a lung specimen obtained at autopsy. Specific immunofluorescent staining of the cytoplasm of alveolar lining cells with RSV antiserum was demonstrated. The electron microscopic appearance of giant cells was compatible with RSV infection. The RSV should be added to the list of viruses causing giant cell pneumonia.

Humans↗
PubMed1984

Impaired muscle differentiation in explant cultures of Duchenne muscular dystrophy.

Muscle cultures were established from 11 normal controls and 13 Duchenne muscular dystrophy biopsies by an explant technique. Under light microscopy the most distinctive features of Duchenne muscular dystrophy cultures were an earlier migration and a delay or even an absence of fusion of mononucleated cells in comparison with the controls. Furthermore, most fusing dystrophic cells were morphologically different from conventional myoblasts, and, at a later stage, myotube formation was significantly reduced. In contrast to controls, dystrophic cultures displayed a total absence of spontaneous contractions and poor myofiber longevity. Atypical myogenic cells seen in Duchenne muscular dystrophy cultures differed ultrastructurally from normal myoblasts in having a smaller population of free ribosomes and polyribosomes, prominent rough endoplasmic reticulum, and abundant intermediate filaments. The dystrophic myofibers that had reached relative maturity always exhibited a poorly developed contractile apparatus in contrast to structurally well-defined normal myofibers. It is inferred that the impaired myogenesis observed in Duchenne muscular dystrophy cultures results primarily from defective fusion involving atypical myogenic cells.

Adolescent↗
PubMed1983

Neuromuscular choristoma. A clinicopathologic study of two cases.

Neuromuscular choristoma, also known as benign "triton" tumor, is an uncommon peripheral nerve tumor usually occurring in early childhood. We report two cases, a 6-year-old girl with a solitary tumor of the supraclavicular fossa, and a 14-year-old girl with multiple small neuromuscular choristomas surrounding a recurrent massive musculoaponeurotic fibromatosis of the right axilla. These choristomas were bound firmly to the involved nerves, and consisted histologically of bundles of mature striated muscle fibers intermingled with myelinated nerve fibers. Our review of the literature indicates that these tumors are benign, regress with time, do not recur, and are usually not accompanied by functional impairment of the affected nerves before biopsy, so that wide or complete excision should not be attempted. Histogenetically, the striated muscle fibers in the nerves probably derive from nondifferentiated ectomesenchymal cells.

Adolescent↗
PubMed1982

[Kasai's operation for extrahepatic bile duct atresia: a cure or palliative treatment?].

The only surgical treatment currently available for patients with extrahepatic biliary atresia is portoenterostomy or portocholecystostomy, the Kasai operation. Seventeen such patients were operated upon at the Hôpital Sainte-Justine; 11 had bile excretion. Eight are still alive 12 to 60 months after operation. They have good to fair bile excretion. Twelve of the 17 patients had infectious or hemorrhagic complications and hepatic deficiency is evident in 6 of the 8 living patients. The progressive deterioration of liver function in the majority of the patients still alive raises the question of whether the Kasai procedure should be considered a curative or only a palliative procedure.

Bile Duct Diseases↗
PubMed1981

Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction?

Studies of 14 North American Indian children with a familial type of severe neonatal cholestasis are described. Jaundice occurred during the neonatal period in 9 children, but disappeared before the end of the 1st yr. Progressive liver damage was documented by the persistence of high levels of alkaline phosphatase, moderate elevation of transaminases, and severe pruritus. Serum bile acids were constantly elevated (3.0-119.5 microgram/ml). Early portal hypertension and variceal bleeding necessitated portal-systemic shunts in 7 children. By light microscopy, the early stage was characterized by hepatitis with giant-cell transformation and biliary stasis. Later on, portal fibrosis became evident and was followed by cirrhosis. By electron microscopy bile canaliculi appeared slightly dilated with preservation or only partial loss of microvilli. They were surrounded by a prominent pericanalicular filamentous web. Immunofluorescence studies indicated the presence of action-containing microfilaments. This group of children might represent a human model of microfilament dysfunction-induced cholestasis.

Actins↗
PubMed1981

Ménétrier's disease in children: report of a patient and review of sixteen other cases.

Ménétrier's disease is one of the rarer causes of protein-losing enteropathies seen in childhood. At onset of symptoms, the present case and 15 others reported so far were younger than 10 yr of age. Edema was usually more conspicuous than gastrointestinal symptoms. In contrast to the usual chronicity of the disease in adults, the illness is self-limited, transient, and benign.

Child↗
PubMed1979

One-hour blood-xylose test in diagnosis of cow's milk protein intolerance.

In this prospective study, 18 consecutive children suspected of cow's milk protein intolerance (C.M.P.I.) on clinical grounds were investigated before and after challenge with cow's milk. One-hour blood-xylose, serum-IgE, eosinophil count, serum-complement (C3) and a jejunal biopsy specimen for histology and disaccharidase activity were obtained from all patients before challenge. Serum-complement was measured again 24 h after the beginning of the challenge and the first three tests were repeated on the fifth day. A second jejunal biopsy was obtained in 9 of the first 10 children. 15 of the 18 children were considered to have C.M.P.I. The one-hour blood-xylose test emerged as a simple and valuable test in the diagnosis of C.M.P.I. A significant drop (51--81%) in the one-hour blood-xylose level was observed in all 15 patients. In all patients but one it dropped below 25 mg/dl. Mean value (+/- S.D.) for the group was 47.5 +/- 11.1 mg/dl before and 17.2 +/- 4.2 mg/dl after cow's milk ingestion.

Animals↗
PubMed1979

Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease.

We present the 8th case so far published of generalized giant axonal neuropathy. Many features of the neurological picture of this 8 year 8 month old boy were suggestive of progressive bulbar paralysis of childhood. Muscle and sural nerve biopsies disclosed typical nodular axonal swellings measuring between 10--29 nm. Ultrastructure of the inflated portions of the axon consisted almost exclusively of 10 nm filaments. Normally appearing constituents were found in the non-dilated portions of the axons with this particularity that glycogen and mitochondria were aggregated. Previous clinical and pathological evidence indicates that this rare disorder not only affects the peripheral nerves but also the whole CNS. Our case differs from the others reported in literature by its rapidly deteriorating course and by the prominent involvement of some brain-stem motor functions; we offer the theory that a link might be implicated between this entity and Fazio-Londe disease.

Axons↗