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Biomedical subjects

G Malpuech

Publications and source records attributed to G Malpuech.

At least 37 records · Page 2Linked to original sources
PubMed1995

[Cancers in children in the Auvergne area: retrospective study from 1986 to 1991].

BACKGROUND: The specificity of childhood cancers led to the creation of regional childhood cancer registries. An epidemiological study of childhood cancers in the Auvergne area was carried out over a 6 year-period (1986-1991) in order to create a registry. POPULATION AND METHODS: The population of our study was 252,820 children (0-15 years old), living in the Auvergne region. All malignant neoplasms were included together with brain tumours (whatever grading). Data were collected from medical and administrative sources. RESULTS: The data of 153 cases were collected during this period. World age standardized overall incidence rate was 120.5 cases/milion/year. Age standardized incidence rates were: leukemias 37.6 (ALL 28.01), central nervous system tumours 18.34 (medulloblastomas 4.6, astrocytomas 4.6, ependymomas 3.8), lymphomas 10.0, neuroblastomas 18.6, soft tissue tumors 8.3, bone tumours 6.1 (Ewing's sarcomas 4.1, osteosarcomas 2.0), nephroblastomas 5.5, retinoblastomas 3.1, liver tumours 0.5 and others 0.5. CONCLUSIONS: Our data base in the Auvergne area might be a source of information for epidemiological studies on the role of etiological factors, the survival, the sequelae and the incidence trends.

Adolescent↗
PubMed1995

Retrospective case-control study of diffusely adhering Escherichia coli and clinical features in children with diarrhea.

A retrospective case-control study with a small population group revealed that, among clinical signs, vomiting but not diarrhea was significantly associated with the presence of diffusely adhering Escherichia coli (DAEC) in children suffering from gastroenteritidis (P < 0.05). Of the children carrying DAEC strains, those who were F1845 DNA probe positive had a significantly longer hospital stay than those who were F1845 DNA probe negative. We believe that the heterogeneity of DAEC strains is responsible for the discrepant results concerning their involvement in disease and that only some of these strains are really pathogenic for children.

Adolescent↗
PubMed1994

Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has been reported in a female manifesting hypomagnesemia with secondary hypocalcemia. In a lymphoblastoid cell line, derived from this patient, the normal X chromosome is preferentially inactivated, suggesting that the patient's phenotype is caused by disruption of an HSH gene in Xp22. In an attempt to define more precisely the position of the X breakpoint, we have constructed a hybrid cell line retaining the der(X)(Xqter-Xp22.2::9q12-9qter) in the absence of the der(9) and the normal X chromosome. Southern blot analysis of this hybrid and in situ hybridization on metaphase chromosomes have localized the breakpoint between DXS16 and the cluster (DXS207, DXS43), in Xp22.2. Thus, if a gene involved in HSH residues at or near the translocation breakpoint, our findings should greatly facilitate its isolation.

Blotting, Southern↗
PubMed1994

Use of G-CSF alone to mobilize peripheral blood stem cells for collection from children.

We report the data of 19 children with neuroblastoma (NB) or Ewing's sarcoma (EW) who had peripheral blood stem cells (PBSCs) harvested after mobilization by: (1) cyclophosphamide (CY) + etoposide + G-CSF, (2) CY + GM-CSF, or (3) G-CSF alone. There were no consistent differences in the number of PBSCs collected following these three different mobilization regimens as assessed by CFU-GM. 17 patients were reinfused with PBSCs after myeloablative therapy and had successful haemopoietic recovery. These results show that in children with solid tumours such as NB or EW a sufficient number of PBSCs can be collected after G-CSF alone, and that PBSCs collected following stimulation by G-CSF alone are as effective in reconstituting haemopoiesis as those collected after mobilizing chemotherapy + HGFs.

Child↗
PubMed1994

Study of final height in Turner's syndrome: ethnic and genetic influences.

In understanding Turner's syndrome, spontaneous adult height is a prerequisite for an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136-147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a large number of spontaneous adult heights (n = 216). The selective criteria were: chronological age (CA) > 18 years, bone age (BA) > 16 years, typical karyotype, no treatment with growth hormone or anabolic steroids. Mean CA was 23.3 +/- 5.6 years. Chromosomal anomalies were: monosomy X 56%; mosaicism 37.2%; structural aberration 10.6%. Mean final height in the whole group was 141.5 (129-160) cm. There was no significant difference in height between the three groups: monosomy X (n = 121: 141.1 +/- 6.4 cm); mosaicism (n = 72: 141.5 +/- 7.5 cm); X anomaly (n = 23: 141.4 +/- 5.0 cm). Mean parental height was 170.4 +/- 7.1 cm (father) and 160.1 +/- 6.2 cm (mother). Parental height and patients' heights correlated significantly, but more so with fathers' heights (r = 0.50) than with mothers' (r = 0.42). The correlation was still apparent with the target height (r = 0.55). The results of different series in the literature show the existence of significant variations as mean final heights are between 136 and 147 cm. These differences can be explained by the variations in normal female heights in each country. We have found in these different countries a very strong correlation (r = 0.91) between normal height and final height in Turner's syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

LADD syndrome in five members of a three-generation family and prenatal diagnosis.

We describe five members of a three generation family with lacrimo-auriculo-dento-digital (LADD) syndrome. The circumstances in which the diagnosis was reached and the details of the case reports underline the great variability of expression of this syndrome and show that caution should be taken in genetic counselling. Prenatal ultrasound should be offered to families at risk so that severe forms of the syndrome, in which termination of pregnancy can be considered, are early detected.

Abnormalities, Multiple↗
PubMed1993

Treatment of homozygous familial hypercholesterolemia by plasma exchange and LDL-apheresis.

Two girls with familial hypercholesterolemia were treated for 7 years by plasma exchanges (PE) or LDL-apheresis (LA). We compared different methods of treatment; PE with or without reuse of the plasma separator, LA of varying frequency, and LA with or without oral administration of simvastatin. We assessed the long-term results by measuring the blood levels of the biochemical parameters before sessions, and determined the effectiveness of each session by the percentage of decrease in the blood levels between the beginning and the end of the sessions. LA led to a more selective treatment (lowering of LDL cholesterol and maintenance of HDL cholesterol), but the blood levels of total cholesterol before sessions were the same as those obtained by PE. IgG and haemoglobin levels decreased little with LA. The rhythm of one session a week gave better results in LA. Although reuse of the plasma separator represents a financial saving it produced poorer results. The oral administration of simvastatin improved the results of LA.

Adolescent↗
PubMed1993

Evaluation of erythropoietic/hematopoietic reconstitution after BMT by highly fluorescent reticulocyte counts compares favorably with traditional peripheral blood cell counting.

Highly fluorescent reticulocyte (HFR) counts and reticulocyte counts were analyzed daily using a Sysmex R-1000 automated reticulocyte counter after 42 BMT in children (median age 7 years, range 10 month-18.5 years). White blood cell levels were also analyzed daily using either traditional counting methods or, when levels were very low, cytocentrifuge preparations. Twenty-eight patients received autologous and 14 allogeneic BMT. After myeloablative therapy, HFR counts fell to zero and rose to 2% of the reticulocyte total after a median time of 10 days (range 6-23 days) post-autoBMT and 14 days (range 9-29 days) post-alloBMT. The appearance of HFR (at least 2% in two successive counts) preceded the attainment of 20 x 10(9)/l reticulocytes in 23 of 26 autoBMT by a median time of 3 days, and in 13 of 13 alloBMT with a median time of 4 days (p < 0.001). Two per cent HFR preceded the attainment of 0.5 x 10(9)/l neutrophils in the majority of BMT by a median time > 6 days (p < 0.001). The attainment of 0.05 x 10(9)/l monocytes was preceded by a rise in HFR in 12 of 26 autoBMT and in 7 of 13 alloBMT. Median times between 2% HFR and monocyte levels of 0.05 x 10(9)/l were respectively 2 (range 0- > 24) and 3 (range: 0- > 19) days after auto and alloBMT. These results show that the evaluation of erythropoiesis following BMT by means of HFR counting provides an early measure of hematopoietic reconstitution which is as precise and considerably more practical than monitoring the monocyte level.

Adolescent↗
PubMed1993

[Rapid efficacy of preoperative chemotherapy in nephroblastoma involving cardiac cavities].

BACKGROUND: Tumors involving the inferior vena cava and cardiac cavities are rare in nephroblastoma. When they do occur, the standard treatment is primary surgery; but this is often technically difficult. CASE REPORT: A 3 year-7-month-old girl was admitted because of an abdominal mass and signs of heart failure. Ultrasonography showed that this mass involved the right renal vein and the inferior vena cava including the right atrium. A CT scan showed no metastases. Echocardiography showed that the mass occupied two thirds of the right atrium and had blocked the tricuspid valve. The patient was given heparin (2 mg/kg/day), vincristine (1.5 mg/m2 on day 1) and actinomycin D (15 micrograms/kg on day 1 to 3). The heart failure disappeared and the abdominal mass decreased in volume. This improvement was confirmed by successive ultrasonographies. Chemotherapy was then completed and the patient was operated on six weeks later: right nephrectomy and removal of the cavoatrial tumoral thrombus. Pathological examination confirmed the nephroblastoma and the patient was given radiotherapy and chemotherapy for 28 weeks. She was also given aspirin for 17 weeks. Pulmonary metastases were detected 1 year after onset and were treated by a combination of surgery and chemotherapy. The patient is well 20 months after the onset of the disease. CONCLUSION: Preoperative chemotherapy seems to be effective in nephroblastoma extending to cardiac cavities; it allows subsequent surgery and facilitates postoperative radiotherapy.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1993

[Neuroblastoma in the Auvergne region from 1986 to 1991: epidemiological data].

An epidemiological study of neuroblastoma in the Auvergne area of France (departments: Puy-de-Dôme, Allier, Cantal, Haute-Loire) was carried out over a 6 years period (1986-1991). Nineteen cases of neuroblastoma were registered during this period. The annual incidence rate is 1.2 among 100,000 children under the age of 15 years. Similar incidence rates from other studies have been reported in the literature. In the department of Rhône, France, a screening program for neuroblastoma was initiated in 1990. The Auvergne area may constitute a population-based control group.

Child↗
PubMed1993

[Discovery, in neonatal screening, of 2 families carrying a syndrome of generalized resistance to thyroid hormones].

The syndrome of generalized resistance to thyroid hormones is being increasingly diagnosed, albeit often belatedly. In the two families described herein the diagnosis was established when moderately elevated thyrotropin levels were found upon neonatal screening of a family member. The family studies identified other affected members with a pattern indicating autosomal dominant inheritance. Clinical and laboratory findings in the neonates were consistent with normal thyroid function and no treatment was given. In one neonate, fibroblast nuclear receptor studies failed to detect decreased affinity for triiodothyronine, a finding reported in most previously published cases; the mutation in this patient was different from the one described in 1989 by Sakurai et al., consistent with the known genetic heterogeneity of this syndrome. It has been suggested recently that treatment of affected neonates with large doses of thyroid hormones is safe and effective in ensuring normal growth. The neurodevelopmental effects of this treatment are unknown. Early treatment is possible when the syndrome is detected neonatally. We therefore advocate routine T4 assays in neonates with moderately elevated TSH levels.

Female↗
PubMed1993

[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↗
PubMed1990

[Isolated persistent thrombocytopenia after autologous bone marrow grafting].

An 11 year-old boy was treated for acute promyelocytic leukemia (ALM3) with chemotherapy according to the LAME 86 protocol (aracytin and rubidomycin). The first complete remission was consolidated by two autologous bone marrow transplantations. Following autologous graft, a persistent thrombocytopenic purpura appeared. Autoimmune origin was indicated by a decrease in platelet survival time and by the presence of high levels of antiplatelet antibodies.

Autoimmunity↗
PubMed1989

[Diagnosis of deficiency in cofactor of phenylalanine hydroxylase: a metabolic emergency].

We report on two cases of children suffering from biopterin synthetase deficiency. Both were treated with the same treatment schedule with biopterin and neurotransmitters: 6-hydroxytryptophan and dihydrophenylalanine (DOPA). The only difference between the two cases is the time of diagnosis and therefore of treatment. The child who was treated early has a normal neurologic development. The other one has been treated since he was 7 months old and is mentally deficient (DQ = 0.60). This older child also suffers from dystonia probably secondary to Levodopa treatment. The authors emphasize the uncertainty of these patient's evolution owing to complications of the disease itself or those due to prolonged treatment by neurotransmitters.

5-Hydroxytryptophan↗
PubMed1989

[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].

We report a case of X-linked adrenal hypoplasia associated with glycerol kinase deficiency in a boy. Cytogenetic studies and X-linked probes did not demonstrate deletion at Xp21. These probes are not informative enough to be used in prenatal diagnosis. This diagnosis was achieved by glycerol concentration assay in amniotic fluid and by maternal plasma estriol assay.

Adrenal Glands↗