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Biomedical subjects

B Caille

Publications and source records attributed to B Caille.

At least 37 records · Page 2Linked to original sources
PubMed1982

[Pseudohypoaldosteronism: familial forms. Eight case-reports, with a review of the literature (author's transl)].

Pseudohypoaldosteronism (PHA) is an uncommon cause of the renal salt loosing syndrome in infancy. The authors describe eight cases in two different families. Hyperaldosteronism persists long after clinical recovery has occurred. Plasma hormone assay allows retrospective recognition of cases overlooked during infancy. This underlines the variability of disease expression among different members of the same family. The high family occurrence rate (over 50%), which is often underestimated, is demonstrated by the study of both families and by a review of published cases. Clinical and biochemical features of familial PHA are discussed. Inheritance is usually on an autosomal dominant basis. However, the small number of reported cases cannot allow any attempt to individualize subgroups of the disorder upon genetic grounds.

Adult↗
PubMed1975

[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity].

Two sisters presenting with benign congenital hypotonia are reported. In both cases the muscle biopsies demonstrated the same pathological pattern, consisting in an abnormal size disproportion between the two main cytoenzymological types of muscle fibers. Their father, exhibiting a slight and diffuse muscle weakness, showed a closely related histological aspect. These three cases bring the first evidence of a familial transmission of this new entity. Its relationship with the other types of "congenital myopathies" is discussed.

Adult↗
PubMed1975

[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family].

In two sisters with a neo-natal hypotonia, muscle biopsies demonstrated as main pathological feature a disproportion in size between the two types of muscle fibers defined according to their myofibrillar ATPase activity. Type I fiber mean diameter was at the lower limit of the normal values, and type II fibers were larger than normal. Their father's biopsy also showed an abnormal smallness of the type I fibers, with a bimodal distribution. By electron microscopy, the small type I fibers did not reveal any significant abnormality in children's biopsies. In father's biopsy, there was an abnormal degree of filamentary interchange between contiguous myofibrils and a few stacks of rods in the type I fibers. These three cases demonstrate the familiar character of the disorder. The relationship of this new entity with the other congenital myopathies is controversial, as a similar congenital fiber type disproportion, has been found in association with different ultrastructural changes. Several data favour an insufficient development of the type I fibers rather than an atrophying process. The mechanism of this "hypotrophy" remains unknown.

Adenosine Triphosphatases↗
PubMedDate not supplied

[Acute hepatic insufficiency disclosing congenital syphilis].

A breast-fed boy, born to first-cousin parents, had been vomiting since birth; his general condition remained good until age 6 weeks when vomiting became more frequent, and his status suddenly worsened, with polypnea, shock, hypothermia, jaundice, presence of blood in urine, gastric juice, stool, and bleeding tendency during veno-punctures. There was an huge hepatomegaly and a splenomegaly. Hypoglycaemia, metabolic acidosis, severe blood coagulation disturbances, elevated liver enzymes, hypoalbuminemia, pointed to an acute liver failure. He was resuscitated with current supportive measures, and was given a wide spectrum antibiotherapy. Because serologic tests for syphilis were positive in the child and his mother, including the presence of specific IgM the infant was then given Penicillin G therapy only, which resulted in a complete recovery. One month later, a needle liver biopsy showed residual signs of hepatitis. Other possible infectious or metabolic causes of acute liver failure occurring early in life had been excluded.

Acute Disease↗