Biomedical subjects
Publications and source records attributed to M Petrus.
A new lethal case of nemaline myopathy is reported. Muscle biopsy at 20 days of age permitted the diagnosis but this boy died at the 35th day of life. In a review of the literature (15 similar cases) the authors analyse the diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder, apparently less "benign" than previously thought.
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The authors relate the observation of a girl with precocious puberty diagnosed at 4 years, treated for 7 years with medroxyprogesterone and who presents now a Stein-Leventhal syndrome. They emphasize the unique character of this association and discuss the different pathogenetic hypotheses: hypothalamo-pituitary disorder, effect of medroxyprogesterone acetate, hyperinsulinism, casual association.
Pelvic ultrasound examination was performed in 28 patients presenting with disorder in the onset of puberty (13 suggesting gonadal dysgenesis and 15, ovarian hyperandrogenism). Results of this investigation were compared with those of coelioscopy, in order to establish the respective value of each technique in the diagnosis of disorders of puberty in girls. In patients with gonadal dysgenesis, echography may show 'residual gonads but coelioscopy remains necessary when results of radiologic investigation are negative, when clinical or hormonal data suggest that ovarian function is present. Ultrasound examination showed one or two enlarged ovaries in all but one patients in whom coelioscopy had shown this abnormality. Pelvic echography is now the first test to be performed in girls with disorders of puberty as it often permits to avoid coelioscopy.
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Alphafetoprotein (AFP) was measured during pregnancy in dried blood eluates. Normal values (50th percentile) were established from 5,000 women throughout their pregnancies. AFP levels progressively increase from the 6th week (3.0 ng/ml whole blood) to the 32 week (124.0), then decrease slowly (70.1). Correlations between serum AFP and AFP from eluates is highly significant (p less than 0.001). Preservation of blood samples on blotting paper is good. An experimental screening of more than 1,500 pregnant women detected one case of anencephaly.
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The authors relate the association XX male and syndrome of Pierre Robin in a child whose father presents a reciprocal equilibrated translocation 46,XY t (16;17) (p13;q21). They discuss the possible relation between these different anomalies and notably the possibility of a genic effect.
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An epidemiologic survey was carried out in the South of France, concerning 892 children less than 6 years of age who were examined or hospitalized for various reasons. Smoking is significantly more important in parents of coughing children than in children who do not cough. The percentage of coughing children increases with the amount of smoking of their parents. A statistically significant relationship is found between the annual incidence of bronchopneumopathies and the total number of cigarettes smoked inside the house. A respiratory index expressed as the sum of 6 parameters representative of the respiratory infectious status of the children is correlated with parental smoking. This study also shows the enhancing effect of day care centers and nursery schools and of collective heating, difficult to adjust. This emphasizes the role of environmental factors and the multifactorial character of respiratory diseases in pre-school children.
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The authors report the case of a three-month-old infant presenting with hypoglycaemia. The etiology, i.e. nesidioblastosis, was asserted by simultaneous dosage of insulin and glucose and by histologic study of the pancreas. Initial therapy was a combination of diazoxide, continuous enteral alimentation and glucose injections. It's ineffectiveness led to an operative decision and 4/5 ths of the pancreas were removed. After a transitory improvement symptoms recurred. Data provided by studies of baseline levels and response to exogenous somatostatin then allowed to determine the correct dosage for treatment with long-acting somatostatin. The authors also discuss the importance of somatostatin in pathogenesis as well as for diagnosis and therapy of nesidioblasosis.
Clinical, biological and anatomic studies were performed in 6 adolescent girls with the Stein-Leventhal syndrome. The rare occurrence of this syndrome in pediatrics is emphasized. The main clinical signs consist of obesity, hirsutism and menstrual irregularities. Basic LH and plasma testosterone are useful diagnostic means, as well as -- in children -- the suppression-stimulation and LH-RH tests. However, coelioscopy is necessary to allow a correct diagnosis. Histological examination might not be absolutely necessary since a large biopsy could be responsible for untimely ovulation. Estrogens and anti-androgens are the only logical treatment at the time of puberty.