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Biomedical subjects

L David

Publications and source records attributed to L David.

At least 37 records · Page 2Linked to original sources

[Nephropathy and Charcot-Marie-Tooth disease. A case report].

A 12 year-old girl with a family of Charcot-Marie-Tooth neuropathy was referred to us with mild proteinuria without hematuria or renal insufficiency; a renal biopsy specimen showed focal glomerulosclerosis. Two years later, proteinuria and renal function were quite stable and there was no arterial hypertension. Of 13 other cases in the literature, the outcome of renal involvement has the same profile:proteinuria at onset with or without microhematuria, sometimes with nephrotic syndrome; the prognosis is often poor, since 9 out of 13 patients have end-stage renal failure after 6 months to 17 years of follow-up. The pathological examination show focal glomerulosclerosis in most cases. Nerve deafness is uncommon in Charcot-Marie-Tooth disease but was present in 7 out of 13 patients with the nephritis. Such an association may be a variant of the dominant autosomal form of the disease, whose gene is located on chromosome 1.

Charcot-Marie-Tooth Disease

[Membranous glomerulonephritis in children: 20 cases].

Twenty cases of membranous glomerulonephritis have been diagnosed between 1978 and 1988 in children (13 girls, 7 boys) aged 4 to 15 years, observed for a 5.1 +/- 2.9 year period. The conditions of the diagnosis were: routine urinalysis in 10 cases, edema in eight, and the surveyance of a D-penicillamine treatment in two. All the patients had proteinuria (0.3 to 15 g/24 h) ranging to nephrotic syndrome in nine children. Microscopic hematuria was found in 16 children (80%). Elevated blood pressure was recorded in two cases at the time of diagnosis, and developed in two other cases during the follow-up. One child experienced renal failure at the onset of the disease. Most histological lesions consisted in stage II membranous glomerulonephritis. Immunofluorescence study (18 biopsies/20) always showed granulosus and intensive IgC deposits, associated with IgM and IgA deposits which were less marked; intensive extra-membranous C3 deposits were noted in 11 cases. As to the etiology, D-penicillamine was responsible for two cases (10%) and HBs antigen in one (5%); the nephropathy was considered as idiopathic in the 17 remaining cases (85%). Regarding the evolution: in eight cases (38%) proteinuria disappeared by 54 +/- 28 months; in 10 cases (55%), proteinuria persisted after 41 +/- 31 months; hematuria, which was present at onset, disappeared in most cases (13/17); in one case (5%), end-stage renal failure occurred within 3 years. The patient with initial renal failure has been last sight off.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent

Localisation of auditory evoked potentials in man during awakeness and sleep.

Auditory evoked potentials after click, speech and musical stimulation during sleep and awakeness were used in order to determine the existence of a topographical dominance of single cortical areas. The results showed a lateralization in awake subjects dependent on the semantic content of the stimulus. During deep sleep the lateralization of the potential was absent and the activity was extremely symmetrically concentrated around the vertex. The findings support the concept of cerebral dominances which has to be more than a pure metaphorical one.

Acoustic Stimulation

[Congenital mega-urethra. Comments apropos of a case report].

Congenital megalourethra is a malformation of the male urethra with a major dilatation of its penile part without obstruction downwards. It is either due to hypoplasia ore agenesia of spongy tissue. Two types are described, scaphoide and fusiform types, according to the presence or the absence of erectile tissue. Megalourethra is a rare condition, and 55 cases were previously reported until 1987. A new case of this severe anomaly is reported and management discussed.

Humans

[Late neonatal hypocalcemia. Apropos of 33 cases treated with 1 alpha-hydroxycholecalciferol].

Thirty-three observations of late-onset neonatal hypocalcemia were reviewed retrospectively. Their etiological, clinical and biological features were consistent with a transient congenital hypoparathyroidism, associated with a materno-foetal vitamin D deficiency. 1 alpha-hydroxycholecalciferol was used for rapid correction of calcemia and proved to be satisfactorily metabolized after its oral administration.

Calcium

[Familial infantile nephrotic syndrome with ocular abnormalities].

Two siblings born from consanguineous parents experienced infantile nephrotic syndrome with ocular and neurological abnormalities and a micropenis in the boy; both patients died before age 1. The opportunity to perform successively a renal biopsy and a two-step binephrectomy permitted a good histological follow-up. The lesions were characterized by mesangial involvement, followed by an extensive extracapillary proliferation and tubular dilatations with a high mitotic activity of the epithelium with anisocaryosis; the main features consisted in major ultrastructural changes of the glomerular basement membrane which were more significant and different from those previously described in the diffuse mesangial sclerosis. These 2 cases may either constitute a new entity or an extreme form of diffuse mesangial sclerosis, supported by recessive autosomal inheritance.

Basement Membrane

Undescended testis: comparison of two protocols of treatment with human chorionic gonadotropin. Effect on testicular descent and hormonal response.

A randomized study of two protocols of human chorionic gonadotropin (hCG) treatment was performed in 183 prepubertal boys between 7 months and 12 years of age: protocol I, in which the boys were given 7 injections of 1,500 IU every other day, and protocol II consisting of 4 injections of 100 IU/kg at 4- to 5-day intervals. In both protocols, by the end of the test, testosterone had risen significantly to values within the normal adult male range. However, the amplitude of the rise was slightly but significantly lower using protocol II (4.08 +/- 2.07 ng/ml) than protocol I (5.16 +/- 2.73 ng/ml). It would thus appear that repetition of the hCG injection at intervals of less than 4 days is unnecessary, and that a total stimulation period of 2-3 weeks is sufficient. Although not correlated with testosterone levels, the success rates for treatment were similar in both protocols and comparable to rates reported in the literature.

Adolescent

[Neurologic manifestations of arterial hypertension in children].

Neurological complications of arterial hypertension are analyzed in 31 children (mean age = 9 years). All patients presented a renal or renovascular disease (acute nephritis + hypoplastic dysplasia , transplantation = 58%) for which malignant hypertension was the first symptom in 16%. The mean +/- SD initial blood pressure was 189 +/- 33/113 +/- 25 mm Hg and was preceded by previous symptoms in 1 patient out of 6. Neurological abnormalities consisted in seizures (48%), acute intracranial hypertension (39%), cranial palsy (23%), coma (19%), hemiplegia/paresia (16%), retinal changes (6%) or aphasia (6%). The EEG was abnormal in 50% of the patients, sometimes showing permanent paroxysmal activity. Neuroradiologic investigations revealed hemorrhagic and/or ischemic lesions in 1/5 patients. On follow-up, hypertension disappeared in 41% of the children; a decrease in renal function was noted in 56% of the patients at the last examination; neurological sequellae were present in 40% (EEG anomalies +/- epilepsy, motor deficit, retinal changes, psychomotor delay, cranial palsy) and 1 patient died. The morbidity of malignant hypertension stresses the importance of early diagnosis and treatment (calcium channel blockers) when its prevention is not possible.

Adolescent

[Benign vulvovaginal tumefactions in children. General review illustrated by a series of 57 personal cases].

There are numerous etiologies of benign vulvo-vaginal tumefactions in children. However, the etiological diagnosis can usually be based on clinical data after careful examination. Para-urethral cysts are the main cause of labial and vestibular tumefactions; they are generally cured by simple puncture. Solid vaginal tumors are uncommon, but they always require surgical resection in order to exclude the exceptional and severe malignant tumours. Neonatal hydrocolpos is frequent in our experience and must always be treated surgically; associated malformations are frequent and must be systematically searched for. Ectopic prolapsed ureterocele and circular prolapse of the urethral mucosa are easily recognizable and need surgical treatment.

Adolescent

[Treatment of hypertensive attacks in children with nicardipine].

A prospective study of the hypotensive effects of nicardipine has been performed during 65 administrations of the drug in 6 children with malignant hypertension. We conclude that this calcium channel blocker is useful to treat hypertensive emergency in children owing to its tolerance and its efficacy (mean arterial blood pressure was lowered by 28 to 38% after 90 min). In addition, it ensures the maintenance of cerebral, renal and myocardial blood flow. A posology of 1 mg/kg/dose, 3 or 4 times/day (oral route) seems to be sufficient, as its effects last 6 to 10 h. Nevertheless the control of acute arterial hypertension must always be associated with the introduction or adjustment of long-term antihypertensive therapy.

Acute Disease

[Epidemiological study and cost evaluation of measles in Lyons hospitals over a 5-year period].

The study of 414 measles cases, admitted in several childrens' hospitals in the Lyons area, underlines the important cost of this disease. Moreover, the occurrence of complications (in 56% of children hospitalized with measles), some of which as severe as encephalitis (n = 9) and/or death (n = 4), shows that an improvement of preventive measures is indispensable. Vaccination appears to be the most effective way, but the actual immunization level remains insufficient in France. This situation could be optimized either by intensifying the sensibilization fields or by rendering vaccination compulsory before entrance to school and collectivities.

Adolescent

[Scriver type autosomal hypophosphatemic rachitis: a family case].

A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported. The mode of inheritance was autosomal dominant, a father and his son being affected. Severe early signs of rickets and delayed growth were present in both cases. Plasma 1,25 dihydroxyvitamin D and PTH levels were normal. There was no hypercalciuria. Complete cure of rickets and catch-up growth were obtained with the only treatment of vitamin D (40,000 U/day) in the father and of 1 alpha hydroxyvitamin D (1 microgram/day) in the son. This observation is quite similar to the 'autosomal hypophosphatemic bone disease' described by Scriver et al. It illustrates the heterogeneity of familial hypophosphatemia which presently includes 4 different physiopathological entities.

Genes, Dominant

Comparison of the ability of eosinophils and neutrophils, and of eosinophils from patients with S. mansoni infection and normal individuals, to mediate in vitro damage to schistosomula of S. mansoni.

A reliable and reproducible method that produces separate fractions of pure eosinophils and neutrophils from normal peripheral blood was described. The interaction of eosinophils and neutrophils with antibody coated schistosomula was examined in vitro. Neutrophils were highly active in the 51Cr release assay and most formed rosettes with antibody coated red cells, but they adhered poorly to schistosomula and did not kill the organisms. Eosinophils, although they were less active in the 51Cr release assay than neutrophils and few formed rosettes, adhered strongly to schistosomula and, in the presence of antibody, were able to kill organisms. Organisms from patients with S. mansoni infection and eosinophilia were more effecient than eosinophils from normal individuals in their capacity to release 51Cr from labelled somula in the presence of antibody.

Antibodies

Studies of growth hormone secretion in juvenile diabetes.

To further investigate the GH secretion in juvenile diabetics, blood glucose (BG) and plasma growth hormone (GH) were determined during controlled exercise performed in basal condition and under glucose infusion, in 7 controls and 22 juvenile diabetics aged 12--35 years, 10 of them with fundal vascular lesions. In controls, glucose infusion significantly lowered the exercise induced GH rise observed under basal conditions. In diabetics, under basal conditions, diabetics with low basal BG (BG less than 100 mg/100ml) had higher GH secretion than those with high basal BG (BG greater than 140 mg/100 ml; p less than 0.05). Under glucose infusion, diabetics with normal BG peak values (not different from controls: BG = 284 +/- (SK) 45 mg/100 ml) had significantly higher plasma GH levels than controls (p less than 0.01). In contrast, in diabetics with BG peak value higher than controls (BG greater than 374 ng/100 ml), plasma GH levels were not different from control values. This study indicates that exercise induced GH secretion in diabetics is mainly related to actual BG levels. Furthermore, we found no relation between the magnitude of GH secretion and the presence of retinopathy in diabetics.

Adolescent

Successful indomethacin treatment of two paediatric patients with severe tubulopathies. A boy with an unusual hypercalciuria and a girl with cystinosis.

Two children were followed for severe congenital tubulopathies: a boy presented an excessive sodium, calcium and water excretion; a girl had cystinosis and a De Toni-Debré-Fanconi syndrome. These renal defects were both associated with increased levels of plasma renin activity and aldosterone, and excessive urinary PGE1 production. They had been unresponsive to therapeutic attempts. Only indomethacin treatment was successful in reversing the biochemical abnormalities and improving the growth pattern.

Aldosterone