[Congenital dyserythropoiesis. Value of isotopic exploration with iron 59 and chromium 51 marked red cells].
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Adult↗
Biomedical subjects
M Bost
Publications and source records attributed to M Bost.
Genetic and molecular analysis of familial isolated growth hormone deficiency.
Familial isolated growth hormone deficiency (IGHD) has been associated with complete deletions of the hGH-N gene encoding the pituitary growth hormone (GH) in a large number of cases. However, there is still no alternative empirical explanation for the remaining familial or non-familial IGHD cases. We studied a large kindred including five IGHD-affected first cousins to determine possible IGHD inheritance and whether the hGH-N gene was the cause of IGHD in this pedigree. Sex-linked and autosomal recessive transmission of IGHD in this kindred was rejected. Autosomal dominant inheritance was the most probable explanation according to a model of one locus with two alleles, one being dominant for IGHD, under genetic modifiers or epistasis. Southern blotting analysis (BamHI and HindIII digestions) was used to determine whether the hGH-N gene was present in the patients and their family members. Because we found that the hGH-N gene was present, five restriction fragment length polymorphisms (RFLPs; HincII, MspI-A and B, and BglII-A and B) linked to the hGH-N gene were used to try to identify the possible RFLP haplotypes in the pedigree that could be markers or associated with the abnormal hGH-N alleles responsible for IGHD. From the haplotype analysis, it appeared that other genes not linked to the hGH-N gene cluster were the cause of the IGHD phenotype in this kindred. An alternative conclusion could be that the hGH-N gene was responsible for IGHD in this kindred, if a mutation (gene conversion) at the MspI-B site or a reciprocal recombination event between the HincII and MspI-B sites occurred from generation P to F1 and a similar event took place from generation F1 to F2. The non-significant GH responses of patients to the growth releasing factor test confirmed that the hGH-N gene structural product or some step in its regulation was responsible for causing IGHD in this kindred. We suggest that genetic micromutations in the hGH-N gene are present and are responsible for IGHD. We developed a method using the polymerase chain reaction to amplify a 790-bp fragment of the hGH-N gene. The fragment spanned from the second part of the dyad symmetry region in the non-transcribed 5' end of the hGH-N gene to 9 bp before the alternative splice-acceptor site in exon 3. The expected fragment was verified by its digestion with seven diagnostic restriction endonucleases (BamHI, FspI, PstI, NdeI, BssHII, BglII and HincII).(ABSTRACT TRUNCATED AT 400 WORDS)
Adolescent↗
The O2- generating oxidase of B lymphocytes: Epstein-Barr virus-immortalized B lymphocytes as a tool for the identification of defective components of the oxidase in chronic granulomatous disease.
The O2- generating NADPH oxidase of human Epstein-Barr virus immortalized B lymphocytes (EBV-B lymphocytes) and the NADPH oxidase of human neutrophils were compared. The capacity of the oxidase of EBV-B lymphocytes to generate O2- is 100-fold less than that of neutrophils. Like the oxidase of neutrophils, the oxidase of EBV-B lymphocytes is decreased or abolished in chronic granulomatous disease (CGD). Activation of neutrophil oxidase in an heterologous cell-free system, using human neutrophil membranes and EBV-B lymphocyte cytosol from healthy and CGD patients, combined with immunoblotting investigations of the cytosolic activating factors p47 and p67 involved in O2- production, suggests that neutrophils and EBV-B lymphocytes possess similar complements of cytosolic factors p47 and p67. Cytochrome b -245, the major membrane redox component of the O2- generating oxidase, is only slightly expressed in the membrane of EBV-B lymphocytes. A sensitive and specific immunocytochemical method for detection of the two subunits of cytochrome b -245 is described; it shows that both subunits are virtually absent in EBV-B lymphocytes from CGD patients deficient in the large subunit.
Animals↗
[Family violence and adolescence].
Intrafamilial violence represents a vast topic, even if one limits the subject to the nuclear family. Indeed it includes violence from parents to the child, violence between brothers and sisters, conjugal violence and violence exercised by the child to his parents. Although one can differentiate the types of violence (physical, sexual, and psychological), they often coexist within the same family. Adolescence favors the onset or the reactivation of familial violence; this violence often has repercussion on the psychological equilibrium of the adolescent. Very little is written about parents abused by one of their children (usually an adolescent). This phenomenon is relatively unrecognized and its frequency probably under-estimated. It points to a distortion in parent to child relationship. Therapeutic and/or socio-educational approach must be directed toward both the victim and the aggressor.
Adolescent↗
[Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature].
A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype. Early recognition of Klinefelter syndrome could be achieved by routinely measuring the size of the testes in school-boys aged 11 to 15 years and performing a karyotype in boys with a volume of less than 2 ml. Early psychological and educational support and testosterone replacement therapy initiated at onset of puberty may lead to improved social and academic outcomes.
Adolescent↗
[Screening in the school milieu, at 4 years old, for hypercholesterolemia].
Four-year-old schoolchildren with a positive family history for atherogenic dyslipidemia and/or clinical atheroma before 55 years of age were screened for hypercholesterolemia. Investigations included determination of serum levels of total cholesterol, triglycerides, HDL cholesterol, apolipoprotein A1, apolipoprotein B, and Lp(a); an agarose lipidogram; acrylamide gradient electrophoresis; and determination of LDL composition by ultracentrifugation. Normal values were defined as values under the 90th centile, i.e., 1.97 g/l for total cholesterol, 0.89 g/l for triglycerides, 1.36 g/l for LDL-cholesterol, and 1.26 g/l for apolipoprotein B. Among 3,565 children routinely evaluated at 4 years of age, 525 (16.2%) had a positive family history; of these, 72 underwent lipid investigations. Eight children (11%) had hypercholesterolemia type IIA, eight had a variety of lipid disorders, and 14 (20.6%) had increased Lp(a) levels as an isolated anomaly or concomitantly with an atherogenic dyslipidemia. Because Lp(a) is a cardiovascular risk factor independent from total cholesterol levels, we believe this parameter should be determined in high risk children.
Apolipoprotein A-I↗
Effect of double-blind crossover selenium supplementation on biological indices of selenium status in cystic fibrosis patients.
Twenty-seven cystic fibrosis patients received selenium supplementation (2.8 micrograms of sodium selenite per kilogram of body weight per day) or a placebo. This 5-month trial was conducted as a double-blind, placebo-controlled study. After an interval of 2 months, treatments of the two groups were interchanged (crossed over) for another 5-month period. A group of healthy subjects, living in the same area, was investigated simultaneously. No selenium deficiency was found either in plasma or in erythrocytes before the supplementation. This result was inconsistent with a previous study performed in 1988 in our laboratory. This change in selenium status can be explained by progress in the nutritional nursing care of children and by the addition of selenium to the diet. During the study, selenium concentrations in plasma decreased when patients received placebo treatment and increased during selenium intake. In one of the two groups a similar variation was found for glutathione peroxidase activities in plasma and erythrocytes, whereas erythrocyte selenium was normal and did not change in any group. Nowadays, in the Grenoble area, the selenium status of cystic fibrosis patients is close to normal. Nevertheless, this study indicates a fragile equilibrium, given that selenium concentrations cn be lowered by placebo or mildly increased by supplementation.
Adolescent↗
Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study.
In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and an unaffected brother's DNA, we analyzed the two androgen receptor gene polymorphisms described, the HindIII and the exon 1 CAG repeat polymorphisms, in order to distinguish the two maternal X chromosomes, and to detect carriers of AIS. We did not find any large deletion among the 52 patients. We observed a heterozygous mother in 3 of 14 families studied with the HindIII polymorphism, and in 12 of 25 families using the exon 1 CAG repeat polymorphism. This study suggests that in AIS, abnormalities in androgen receptor response could be related to point mutations or microdeletions rather than to gross structural alterations of the androgen receptor gene. Furthermore, unless the point mutation has been described, exon 1 and HindIII polymorphism studies would enable the identification of carriers in 50% of families, and the prenatal diagnosis of AIS.
Androgens↗
[Granulosa cell tumors of the ovary in children and adolescents. Multicenter retrospective study in 40 patients aged 7 months to 22 years].
BACKGROUND: Juvenile granulosa cell tumors (JGCT) of the ovary are rare in children. The over-all outcome after surgery is relatively good, but the indication and type of complementary treatment for severe forms are still unclear. POPULATION: A retrospective survey of the majority of patients with JGCT of the ovary admitted between 1965 and 1990 to 11 French oncologic pediatric centers was carried out. Medical records including surgical and histological data, were analyzed and each tumor was retrospectively classified by the same pathologist according to the Wollner classification. RESULTS: There were 40 patients aged 7 months to 22 years (mean: 6 years); 28 were less than 10 year old at diagnosis. Three had enchondromatosis (Ollier's disease). At diagnosis, all patients presented with an abdominal tumor, 23 had developed manifestations of precocious pseudopuberty, 2 had signs of virilization after a normal puberty and 2 had secondary amenorrhea. Surgery was always the primary treatment: unilateral ovariectomy in 35 cases, bilateral in 4 and biopsy alone in 1 case. There were 21 stage I, 1 stage II, 16 stage III and 2 stage IV cases. 13 patients received combined chemotherapy and 2 abdominal radiotherapy. 34 patients were alive and disease-free 10 months to 26 years after surgery and 6 died. All 23 patients with precocious pseudopuberty had a favorable outcome. CONCLUSIONS: This study confirms earlier reports. Unilateral ovariectomy is the first-choice therapy. There is no evidence that tumors complicated by rupture and hemoperitoneum require chemotherapy. Combined chemotherapy does not appear to improve the prognosis for the rare malignant forms. The factors of good prognosis are age less than 10 years and the presence of precocious pseudopuberty.
Adolescent↗
[Parameningeal cervical rhabdomyosarcoma in the neonatal period].
A case of parameningeal cervical rhabdomyosarcoma with severe bone destruction is reported in a 3 month-old infant; symptoms were present at birth. The treatment consisted of exclusive intensive chemotherapy. The outcome was favourable with complete tumor regression and vertebral bone reconstruction. The child was on complete remission without sequellae two years later.
Antineoplastic Combined Chemotherapy Protocols↗
[Contribution of molecular biology to the diagnosis of familial hypercholesterolemias in children].
The detection of children at high risk in families with a genetic form of hypercholesterolemia is important for acceptance of prevention under medical control. However, usual lipidic parameters are difficult to interpret during infancy. So we studied by a molecular biology approach 11 families presenting with syndrome of pure hypercholesterolemia where a defect of the LDL receptor (LDL-R) gene was suspected (Familial Hypercholesterolemia: FH IIa). Markers of the LDL-R gene (Restriction Fragment Length Polymorphism RFLP) were studied with intragenic probes. The segregation of the abnormal gene was studied in each family. Our results illustrate the limits of such an approach (its heaviness and the fact that, in 2 families, the analysis was not informative), but also its advantages: indeed, in 8 families, the diagnosis was established (particularly in one case at birth). Moreover in 2 families the LDL-R abnormality was excluded. In such case, as an alternative, the hypothesis of an apo B abnormality was envisaged. This differential diagnosis is interesting since it permits the choice of an adequate treatment.
Adolescent↗
Activation of O2(-)-generating oxidase in an heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils. Application to the study of defects in cytosolic factors in chronic granulomatous disease.
Epstein-Barr-virus-transformed human B lymphocytes (EBV B lymphocytes) stimulated by 4 beta-phorbol 12-myristate 13-acetate exhibit an NADPH-dependent oxidase activity capable of generating the superoxide anion O2-, similar to, but less efficient than that of activated neutrophils. A cell-free system of oxidase activation consisting of a membrane fraction and cytosol from EBV B lymphocyte homogenate supplemented with guanosine 5'-[gamma-thio]triphosphate (GTP[S]), arachidonic acid and Mg2+ was found to be competent in the production of O2-, assessed by the superoxide-dismutase-sensitive reduction of cytochrome c in the presence of NADPH. However, cytochrome c reduction was slow and largely insensitive both to superoxide dismutase, and to iodonium biphenyl, a powerful inhibitor of the oxidase activity in neutrophils. A markedly faster reduction of cytochrome c in the presence of NADPH was obtained with a heterologous system consisting of cytosol from EBV B lymphocytes and bovine neutrophil membranes, GTP[S], arachidonic acid and Mg2+; in this system, reduction of cytochrome c was totally inhibited by superoxide dismutase and iodonium biphenyl. These results show that EBV B lymphocytes contain a substantial amount of cytosolic factors of oxidase activation, and that the limiting factors for O2- production in B lymphocytes are the membrane components of the oxidase complex. The heterologous system of EBV B lymphocyte cytosol and bovine neutrophil membranes provided a rapid and convenient method to diagnose cytosolic defects in autosomal forms of chronic granulomatous disease. In addition, it might be a useful tool to explore the mechanism of action of the cytosolic factors in oxidase activation.
Animals↗
[What is your diagnosis? Post-inflammatory acquired generalized Cutis laxa].
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Adolescent↗
[Antecedents of pediatric pathology in adolescents hospitalized in a department for pediatric psychiatry].
The antecedents of pediatric hospitalization and previous history of somatic disturbance in 101 adolescents aged 12-16 yr hospitalized in a pedopsychiatric unit were compared to those of a representative population of 101 high school adolescents without psychiatric problems. Patients and controls were matched according to age, sex and parents nationality. The result showed that adolescents with psychiatric disorders were significantly more frequently hospitalized during infancy and childhood, particularly for medical reasons. They also presented many more algic syndromes, recurrent headaches, recurrent vomiting and epilepsy. Thus, recurrent pediatric hospitalization and chronic somatic disturbance appear to be warning signals of a possible psychiatric risk and should lead to a psychological investigation of the child and his relations with the family.
Adolescent↗
[Brain stem tumors in children].
Gliomas involving the brain stem represent 10% of pediatric central nervous system neoplasms. They result in multiple cranial nerve involvement, long tracts signs, cerebellar signs, usually with no evidence of raising in intracranial pressure. The diagnosis is established by computed tomographic scan and magnetic resonance imaging. Classic management consists in conventional radiation therapy but the prognosis is very dismal with a five year survival rate about 30%.
Brain Neoplasms↗
[Primary germinal tumors of the central nervous system].
Primary intra-cranial germ-cell tumors are a rare and heterogeneous group of neoplasms, identical to germ-cell tumors of gonads and other organs. These tumors arise along the midline, from the supra-sellar cistern to the pineal gland, and have neurological, ophthalmological, and endocrinological expression. The diagnosis is established by detection of increased levels of tumoral markers and/or by histological examination. The treatment includes chemotherapy, radiotherapy and surgery.
Brain Neoplasms↗
[Transient myocardial ischemia and isolated congenital mitral valve prolapse in an infant].
The investigation of a cardiac murmur in a 9 month old infant led to the clinical, echo and angiographic diagnosis of congenital mitral regurgitation due to isolated mitral valve prolapse, whereas the electrocardiogram showed signs of inferior myocardial ischaemia which regressed in a week. The valvular dysfunction of mitral valve prolapse has been held responsible for coronary spasm ischaemia and infarction in adults. This complication has not been previously reported to our knowledge in infancy.
Angiocardiography↗
[Cystic fibrosis and allergic bronchopulmonary aspergillosis].
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Aspergillosis, Allergic Bronchopulmonary↗