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H Plauchu

Publications and source records attributed to H Plauchu.

At least 55 records · Page 3Linked to original sources
PubMed1995

[Early manifestations of Tangier disease].

BACKGROUND: The diagnosis of Tangier disease in childhood is based on the specific aspect of tonsils or by screening relatives of affected subjects. CASE REPORT: A moderately enlarged liver associated with splenomegaly was found upon routine physical examination of a 3 month-old breast-fed boy, born in Turkey from consanguineous parents. Laboratory studies disclosed moderate increase in serum alanine aminotransferase activity (ALAT 52 UI/l, N < 30). The diagnosis of Tangier disease was confirmed by studies of plasma cholesterol and apolipoprotein A. By 8 months of age, the patient had enlarged orange tonsils. Small cervical, axillary and inguinal lymphadenopathies were present. The tonsilar and adenoidal tissues were removed at 18 months of age because the patient suffered from chronic airway obstruction. Colonoscopic examination revealed tiny flat orange spots, 1 to 2 mm in diameter, scattered throughout the rectosigmoidal and colonic mucosa. Survey of the family led to the discovery of one sister, with asymptomatic apolipoprotein Al deficiency and a normal sister, while the parents were heterozygotes for Tangier disease. CONCLUSION: Enlarged liver associated with a moderate level in serum aminotransferase may be an early manifestation of Tangier disease in infants. Rectosigmoidal and colonic lesions may be convenient for biopsy when tonsillectomy is not indicated.

Hepatomegaly↗
PubMed1995

[Spontaneous colonic perforations revealing Ehlers-Danlos syndrome type IV].

BACKGROUND: The malignant form of Ehlers-Danlos syndrome type IV owes its bad reputation to a proneness to spontaneous rupture of bowel or large vessels, which may reveal the disease. CASE REPORT: A girl suffered acute rupture of the sigmoid at the age of 5 years and rupture of the left colon, twice, at the age of 11 and 13 years, respectively. These ruptures required colostomy and finally colectomy. A proneness to bruisability, history of dislocation of hips, hypermobile joints, ovarian cysts and some minor abnormalities of her face resembled that of the Ehlers-Danlos syndrome which was confirmed by optic and electronic microscopy of the skin biopsy. CONCLUSION: This is the youngest case of rupture of bowel reported in Ehlers-Danlos syndrome. Long-term prognosis is influenced by repetition of intestinal ruptures and occurrence of vascular complications.

Child, Preschool↗
PubMed1995

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.

Hereditary haemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant vascular disorder which associates epistaxis, mucocutaneous and visceral telangiectases, and recurrent haemorrhage with chronic anaemia and visceral shuntings. Recently, the tumour growth factor (TGF)-beta binding protein endoglin localized to 9q33-34 was identified as responsible for HHT in several large kindreds with pulmonary arteriovenous malformations (PAVMs). Additional linkage studies demonstrated that HHT is a genetically heterogeneous disorder with families unlinked to this region of 9q. In the families in which HHT was not linked to chromosome 9, less PAVMs were present. Furthermore, in one of these families, HHT was found linked to 3p22, where the TGF-beta II receptor is located. In this linkage study, we have analysed DNA from two families, in which HHT was unlinked to chromosome 9q and 3p, and PAVMs were absent, with a series of genetic markers on the centromeric region of chromosome 12. Using two-point linkage analysis, a significant lod score of Zmax = 7.86 at theta = 0.05 was obtained with the D12S85 microsatellite marker.

Antigens, CD↗
PubMed1994

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Holt-Oram syndrome (HOS) is an autosomal dominant condition of unknown origin characterized by congenital septal heart defects with associated malformations of the upper limbs (radial ray). Here, we report on the mapping of a gene causing HOS to the distal long arm of chromosome 12 (12q21-qter) by linkage analysis in nine informative families (Zmax = 6.81 at theta = 0 at the D12S354 locus). Also, multipoint linkage analysis places the HOS gene within the genetic interval between D12S84 and D12S79 (multipoint lod-score in log base 10 = 8.10). The mapping of a gene for HOS is, to our knowledge, the first chromosomal localization of a gene responsible for congenital septal heart defect in human. The characterization of the HOS gene will hopefully shed light on the molecular mechanisms that govern heart septation in the early stages of embryogenesis.

Abnormalities, Multiple↗
PubMed1994

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

The first localization of a gene responsible for autosomal, neurosensory, recessive deafness recently assigned NSRD1 to the centromeric region of human chromosome 13. We now report on a dominant form of neurosensory deafness found in a family of French origin. The deafness is moderate to severe, has a prelingual onset and affects predominantly the high frequencies. The gene responsible for this form of deafness was found by linkage analysis to map to the same region of chromosome 13 as NSRD1. A multipoint analysis gave a maximum lod score of 4.66 with a most likely location close to locus D13S175. This suggests that different mutations in NSRD1 may cause both dominant and recessive neurosensory deafness.

Centromere↗
PubMed1994

A gene for hereditary multiple exostoses maps to chromosome 19p.

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.

Chromosome Mapping↗
PubMed1994

Pheochromocytoma as the first manifestation of von Hippel-Lindau disease.

BACKGROUND: von Hippel-Lindau disease is an autosomal dominant disorder characterized by the development of hemangioblastomas in the cerebellum, spinal cord, and retina, renal cell carcinoma and cysts, pancreatic cysts, and pheochromocytoma. METHODS: We have studied a series of 36 French patients affected with von Hippel-Lindau disease pheochromocytoma. Thirty (83%) of them were diagnosed as having von Hippel-Lindau disease because the disease occurred in a familial von Hippel-Lindau disease setting; six (17%) were diagnosed as having von Hippel-Lindau disease because they displayed another characteristic manifestation of that disease. RESULTS: The mean age at pheochromocytoma diagnosis was 29 +/- 14 years (5 to 62 years). Bilateral tumors were documented in 15 (42%) cases, paraganglioma was associated with adrenal pheochromocytoma in four cases, and malignant pheochromocytoma occurred in three cases. Prevalence of pheochromocytoma revealing von Hippel-Lindau disease was 20 (53%) out of 36. In six cases pheochromocytoma was the only manifestation of the disease. CONCLUSIONS: In the interest of the patients themselves and of family members who are at risk, search for von Hippel-Lindau disease must be systematic in the presence of pheochromocytoma. Basic checkup may be completed with familial inquiry, ophthalmoscopy, cerebral magnetic resonance imaging, abdominal ultrasonography, and computed tomography-scan for detection of latent lesions. In the future, after characterization of von Hippel-Lindau disease gene mutations, molecular diagnosis is going to be possible in individual patients.

Adolescent↗
PubMed1993

Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases.

BACKGROUND: Hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) is infrequent and poorly studied. The aim of this study was to describe the clinical, radiological, and hemodynamic patterns of this involvement. METHODS: Eleven consecutive patients with HHT and hepatic involvement observed within 12 years were retrospectively studied. They were 8 females and 3 males, mean age, 47. RESULTS: The patients presented with heart failure (4 cases), hepatomegaly and murmur of the right hypochondrium (7 cases), and digestive hemorrhage (6 cases). Eight patients had anicteric cholestasis. Celiac angiography showed a dilated hepatic artery in 8 cases, disseminated intrahepatic telangiectasias in 10, and early opacification of the hepatic veins in 7. Liver dynamic computed tomography (CT) scan performed in 7 patients allowed the diagnosis of liver involvement in each case. Hemodynamic studies were performed in 5 patients. A left-to-right intrahepatic shunt was proven in the 5 patients. Shunt output was estimated between 25% and 58% of cardiac output. Mild pulmonary hypertension was observed in the 5 cases. CONCLUSIONS: Diagnosis of liver involvement in HHT can be made by dynamic CT scan or celiac angiography. The main feature of this involvement is high output heart failure due to left-to-right intrahepatic shunt. Thus, right-heart catheterization is necessary in these patients to confirm and evaluate the shunt.

Angiography↗
PubMed1992

[Sacrum abnormalities and neural tube closure defect: different manifestations of a same genetic disease?].

The authors report the case of a full-term female infant exhibiting an anterior meningocele, combined with a hemi-sacrum and an anal dysfunction. Both her father and brother had the same although less pronounced abnormalities. The father's sister was anencephalic. This case, together with previously published data, suggests that sacrum malformations and neural tube defects may derive from a unique dominant autosomal gene with variable expressivity.

Female↗
PubMed1990

Malformations and minor anomalies in children whose mothers had prenatal diagnosis: comparison between CVS and amniocentesis.

The frequency of abortion following chorionic villus sampling (CVS) is similar to that following amniocentesis. However, there is no information on long-term effects, such as malformations in liveborn children exposed to CVS. We evaluated 189 infants whose mothers had either CVS or amniocentesis as participants in the Canadian Collaborative Randomized Trial, a prospective assessment of the safety of CVS compared with amniocentesis. The participation rate of children who could be contacted was 95%. Ninety-five of the 189 infants (50.2%) had been exposed to CVS, 87 (46%) to amniocentesis, and 7 (3.8%) to both. (The latter group was excluded from calculations.) One hundred twenty-eight (128) children had greater than or equal to one minor anomalies but no major abnormalities: 58 of 95 (60%) in the CVS and 70 of 87 (80%) in the amniocentesis group. Twenty-six children had malformations: 17 (17.8%) in the CVS and 9 (10.3%) in the amniocentesis group. Only one anomaly, Sturge-Weber dysplasia (amniocentesis group), was potentially severe and none were life-threatening. Superficial cavernous hemangiomas (strawberry nevi) were noted more frequently in children in the CVS group (12.6%) than in the amniocentesis group (3.4%), but only slightly higher than in the general public. We conclude that exposure to CVS is not associated with an increased frequency of malformations or minor anomalies in infants compared with amniocentesis although we observed a higher frequency of superficial cavernous (strawberry) hemangiomas in the children in the CVS group.

Amniocentesis↗
PubMed1989

Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.

We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle-aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two/324 patients. Involvement of other internal sites was not observed.

Adolescent↗
PubMed1988

Asymptomatic association of hemoglobin Dunn (alpha 6[A4]Asp----Asn) and hemoglobin O-Arab (beta 121[GH4]Glu----Lys) in a Moroccan man.

We report on the association of Hb Dunn (alpha 6[A4]Asp----Asn) and Hb O-Arab (beta 121 [GH4]Glu----Lys) in a healthy Moroccan man. Hb Dunn had the same electrophoretic properties as Hb G-Philadelphia, but its percentage was lower. Its identification was based on sequence determination of the alpha T1 peptide. Bgl II and Eco RI mapping showed the presence of four alpha-genes. Hb O-Arab was easily recognized through its electrophoretic properties and was confirmed by the suppression of the Eco RI site located in exon 3 of the beta-gene. The percentages of the various hemoglobins showed that the doubly mutated hemoglobin Dunn/O-Arab has a normal stability and suggested that the Dunn mutation is carried by the alpha 1-gene. In cord blood [propositus's son], the output of the alpha Dunn gene was found equivalent to that existing in the adult.

Chromatography, High Pressure Liquid↗