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Biomedical subjects

G Malpuech

Publications and source records attributed to G Malpuech.

At least 55 records · Page 3Linked to original sources
PubMed1989

[Outcome of the kidney with vesico-ureteral reflux. Apropos of 129 cases].

The final status of the kidneys of 129 children suffering from vesico-ureteric reflux was studied. The growth of the kidneys was comparable in the surgically treated and in the medically treated group. However, growth was better when the kidneys had been normal initially than when they presented renal scars. New scars were more frequent in the medically treated group, and/or when scars were already present at diagnosis of vesico-ureteric reflux. Our results are in agreement with those in the literature.

Adolescent↗
PubMed1989

[Renal agenesis and the Fraser syndrome: 4 observations].

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.

Abnormalities, Multiple↗
PubMed1988

Serum neuron-specific/nonneuronal enolase ratio in the diagnosis of neuroblastomas.

Pretreatment samples from 24 children with neuroectodermal tumors (two ganglioneuromas, 22 neuroblastomas) and from 106 others with various tumors were submitted to the enzymatic determination of the serum neuron-specific enolase (NSE). The enzymatic procedure employed in this study allows the systematic determination of the NSE and of the nonneuronal enolase (NNE), thus permitting the calculation of the ratio of the two enolase components. Like results obtained with other procedures, enzymatic determined serum NSE results were raised in a high proportion of Stage IV neuroblastoma (100%) but elevated values also were found in a considerable number of the other tumors (29.2%) like Wilms' tumor, lymphomas, and soft tissue sarcomas. The use of the NSE/NNE ratio which characterizes NSE elevations originating from relative poor or rich sources of NSE, represents an additional index for improving the specificity of the NSE results in the diagnosis of neuroblastomas. With a cutoff value fixed at 7.5%, the specificity of the test is 85.9%. When this limit is fixed at 15%, the specificity reaches 95.3% whereas 81.8% of the results of Stage IV neuroblastomas are still above this value.

Child↗
PubMed1988

Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

We report on a brother and sister with adrenal insufficiency due to isolated adrenocorticotropin hormone deficiency discovered in the neonatal period. The first-born, a male infant, died; pathological findings suggested bilateral adrenal hypoplasia transmitted as an autosomal recessive trait. Plasma estriol levels were assayed during the mother's next pregnancy. The prenatal diagnosis allowed immediate and effective management of the second affected child. The supplementary evidence from the endocrine findings, unavailable on her brother, enabled us to make a diagnosis of isolated central ACTH deficiency. As the defect was found in infants of both sexes in the same family, it is in all likelihood transmitted as an autosomal recessive trait. We consider it important for genetic counselling to perform autopsies on all newborn infants whose death has no apparent cause. Maternal plasma estriol assays during pregnancy can help diagnose fetal adrenal insufficiency, whether the defect is central or adrenal.

Adrenal Insufficiency↗
PubMed1988

[Use of ceftazidime combined with netilmicin in the treatment of febrile episodes occurring after bone marrow transplantation in children].

Thirteen episodes of fever in bone marrow transplantation recipients (23 months to 11 years old children) were treated by ceftazidime (100-200 mg/kg/j) and netilmicin (7 mg/kg/j). Vancomycin was added at the 24th hour in 10 cases of persistent fever. 6 presumed agents of infection were isolated before antibiotic treatment: blood cultures (streptococci 2, staphylococcus 1, proteus 1), fecal sample (E. coli 1), urine (E. coli 1). Modifications of aerobic fecal flora were studied under this treatment. E. coli, staphylococci and enterococci were the mainly strains isolated. There were no third generation cephalosporins resistant Gram-negative bacteria. High level resistance to aminoglycosides was observed in enterococcal strains, isolated during and after treatment. Ceftazidime-netilmicin (+/- vancomycin) was an effective and safe combination for the management of febrile neutropenic episodes.

Bacteria↗
PubMed1987

[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)].

The authors report 5 cases of congenital hydrocephalus due to isolated stenosis of the aqueduct of Sylvius. In the first three cases (2 brothers and 1 sister) ventriculograms showed apparent obstruction of the aqueduct. A valve shunting was necessary at 1 month of age in cases 1 and 2, at 3 years of age in case 3. In cases 4 and 5 (1 brother and 1 sister) ultrasonic prenatal diagnosis showed ventriculomegaly and pregnancies were interrupted respectively at 31 and 28 weeks of gestational age. The pedigree of the families suggests that the inheritance of this abnormality is autosomal recessive. Such an inheritance is very unusual and confirms the difficulty of genetic counseling facing the first occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family. The prenatal diagnosis is based on fetal ultrasonic examination and may be obtained late in the pregnancy leading to therapeutic and ethical tricky decisions.

Abortion, Therapeutic↗
PubMed1987

[Value of muscle studies in the early diagnosis of Schwartz-Jampel syndrome].

The authors report a case of Schwartz-Jampel syndrome (osteo-chondro muscular dystrophy with myotonia). The diagnosis was made when the child was 3 1/2 year old. Then, there were no clinical symptoms; however, the electromyographic and histologic patterns of the disease were found. Two years later, the clinical status provided confirmation of the diagnosis. The discussion focuses on the difficulty of the diagnosis and the relevance of electrophysiological studies and muscular biopsy in order to distinguish this disease from others with similar clinical pattern (as Freeman-Sheldon, or Marden Walker syndromes).

Child, Preschool↗
PubMed1986

[Treatment of precocious puberty with LH-RH agonists. Multicenter study using D-Trp-6-LH-RH in a programmed-release form].

LH-RH analogs, substituted in position 6 by D-tryptophane, D-serine(tBu), D-leucine or D-alanine induce a strong stimulation of the gonadotrophs, followed by a desensitization of the LH-RH receptors, which leads to a blockade of the gonadotropin secretion and to a hypogonadism. A delayed release preparation of D-Trp-6-LH-RH (Decapeptyl in microcapsules), designed to release the peptide for 28 days after intramuscular injection, was given to 69 girls and 18 boys with precocious puberty. In both, plasma levels of gonadotropins and gonadal steroids were suppressed within 3 weeks, whilst pituitary responses to LH-RH were almost abolished within 7 weeks. A significant improvement of secondary sex characteristics, as well as gonadal size, was obvious within 6 months. Growth velocity was markedly lowered and, more, in most of children, bone maturation was blocked. This study shows that Decapeptyl in microcapsules is more rapidly and more constantly efficient than LH-RH agonists given discontinuously by subcutaneous or intranasal route.

Bone Development↗
PubMed1986

[Contribution of electron microscopy of cultures of fibroblasts in the diagnosis of hereditary metabolic diseases].

This work is an electron microscopic study of fibroblast culture of patients with metabolic diseases. In all cases, except for Niemann-Pick disease, primary lysosomes or secondary lysosomes containing lamellar, rectilinear or curvilinear material are accumulated in cytoplasm of fibroblasts. Though clinical consequences of metabolic diseases are diverse, cellular injuries are relatively uniform. Then electron microscopic study would'nt allow the diagnostic of a metabolic disease but it can provide an orientation. In one case, the enzymatic defect is not determined with biochemical analyses though clinical observation is characteristic of a metabolic disease; only the electron microscopic study shows a lysosomal accumulation.

Adolescent↗
PubMed1985

[Contribution of anatomic verification of the fetus and newborn infant in diagnosis and genetic counseling. Apropos of 221 autopsies].

The authors report the results of 221 post-mortem examinations of fetuses, newborns, and infants performed during 26 months and theirs involvements in genetic counselling. 10,8% of these cases are provided by therapeutic terminations of pregnancy; necropsy confirmed the diagnosis afforded except for maternal infectious diseases contracted during pregnancy in which post-mortem examination revealed generally no abnormality. Genetic diseases represented 33,7%: in these cases anatomic examination took variable role, it is more important in multivisceral malformative syndromes, sudden death of infancy, and histologically prominent feature diseases. In 38,5% of cases, medical acquired disease were found; it elucidated cause of death and generally permitted to carry out favourable genetic counselling. At least 17,1% of cases stayed unexplained after necropsy.

Autopsy↗
PubMed1984

Familial growth retardation with isolated thyroid-stimulating hormone deficiency.

Three brothers with isolated thyroid-stimulating hormone (TSH) deficiency were observed at ages 17, 15, and 10 years. They suffered from severely retarded growth, with a marked retardation in bone maturation. Their serum T4, T3, and TSH levels were low. Serum thyrotropin-releasing hormone (TRH) concentration was normal. No increases in TSH levels were elicited during the TRH test. The other pituitary hormones, adrenocorticotropic hormone, growth hormone, follicle-stimulating hormone, luteinizing hormone, and prolactin hormone, responded normally to stimulation. Thyroxin treatment triggered a growth acceleration. Genetic investigation revealed several instances of small stature on the father's side.

Adolescent↗