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Biomedical subjects

D Rieu

Publications and source records attributed to D Rieu.

At least 55 records · Page 3Linked to original sources
PubMed1990

A LDL receptor gene homozygous mutation: PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency.

Many mutations in the LDL receptor (LDLR) gene have now been identified mostly as gross gene rearrangements, however they only represent a weak percentage of all deleterious gene mutations causing Familial Hypercholesterolemia (FH). This discrepancy may be related to the difficulties in characterizing point or small defective mutations. In a three-generation family with Familial Hypercholesterolemia, one specific haplotype constructed with 12 intragenic restriction fragment length polymorphisms (RFLP) cosegregated with the disease, while in the consanguineous propositus there was homozygosity for this haplotype. By polymerase chain reaction (PCR) amplification followed by direct sequencing there was unequivocal evidence for a double dose of a unique mutation, (namely a duplication of 4 bases in exon 17), while there was a single dose in heterozygote relatives. We consequently screened a population selected under clinical and geographical criteria for this mutation by PCR and allele specific oligonucleotides (ASO) hybridization. None of the 158 type IIa individuals tested carried the same mutation. Herein, is a rapid combined genetic and molecular approach to characterize and evaluate the frequency of LDL Receptor gene mutations causing Familial Hypercholesterolemia, towards targeted prevention and therapy.

Alleles↗
PubMed1987

[Malignant leiomyoblastoma of the stomach (epithelioid leiomyosarcoma)].

Primary malignant tumors of the stomach are rare in children. They are chiefly sarcomas and lymphomas, carcinomas being quite exceptional. Leiomyoblastomas are mesenchymal tumors arising from smooth muscles. Histologic differentiation between benign and malignant leiomatous tumor is difficult. However, an histopathologic grade of malignancy can be assigned to each tumor according to the degree of hypercellularity, nuclear abnormality, mitotic rate, tumor size and invasion of adjacent organs. Moreover, some of these tumors are noted in conjunction with Carney's triad, associated with a pulmonary chondroma and an extra-adrenal para-ganglioma. Pre-operative correct diagnosis is seldom made, although the incidence of gastro-intestinal bleeding and anemia is much higher in smooth muscle tumors than in others. Wide surgical excision must be performed, whenever a chance to completely remove the tumor exists. Gastric resection is well tolerated in children and does not significantly alter the child's normal growth and development. The high risk of local or metastatic recurrence, the chance for a Carney's triad to appear imply a poor prognosis and neccesitate a long follow-up period. We here describe the case of a 15-year-old boy, whose gastric tumor was found on the fact of an important melena and anemia. Gastroscopy showed an ulcerative tumor of the lesser curvature and roentgenogram from a barium study described an important and irregular defect in gastric body with a central ulcer overlying the mass. At operation, the tumor appeared to be unlimited and total gastrectomy was performed. Histologic findings showed an epithelioid leiomyosarcoma with some unfavorable microscopic factors.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1987

[Total colonic form of Hirschsprung disease. Apropos of 6 cases].

6 patients with total colonic aganglionosis without small bowel involvement (HCT) have been observed during a 13-years period. From this material and a review of literature, the authors stress the diagnostic and therapeutic particularities of HCT, which justify a separate analysis and a comparative study with the more typical forms of Hirschsprung's diseases. The percent of HCT out of all types of Hirschsprung's disease is 7.9%. Male to female ratio is 2:1 and familial occurrence is much higher (15 to 20%) than that seen in the classical form of Hirschsprung's diseases. A diagnosis of HCT is more difficult because of lack of specificity in clinical picture, radiologic findings and manometric evaluation. However, age at time of revelation is the neonatal period in 83% and enterocolitis is present in 25% with a higher incidence than in shorter types of Hirschsprung's disease. Therefore in HCT, laparotomy with appendicectomy and open frozen biopsies is always required for correct diagnosis. Ileostomy is mandatory. It must be done early and adequate in situation and technic. This kind of diversion has its own morbidity and mortality with a higher rate than that observed after colostomy. Definitive operation must be ideally performed at age 2. The principal of preserving and utilizing a segment of colon in a side-to-side anastomosis to the ganglionated small-bowel, followed by a pull-through ileoproctostomy has been established as a reasonable treatment for HCT since Martin's first description. 5 cases underwent a Martin repair and 1 a total colectomy.(ABSTRACT TRUNCATED AT 250 WORDS)

Cecum↗
PubMed1983

[Idiopathic pulmonary hemosiderosis and celiac disease in a child. Case report].

An enteropathy with almost total atrophy of the villi was discovered in a 13-year old girl with idiopathic pulmonary haemosiderosis. Coeliac disease was strongly suspected but could not be proven. This case draws attention to the possible association of an idiopathic pulmonary haemosiderosis with a coeliac disease.

Adolescent↗
PubMed1983

[Ganglioneuroblastoma of the head of the pancreas. Report of a case in a 2-year-old boy].

This is a case report of a two years old young boy whose abdominal tumor was discovered by a routine examination. The mass was a huge, solid and painless one, located anteriorly in the right upper quadrant of the abdomen. Abdominal X-ray, IVP and ultrasonography showed a calcified mass with a normal right kidney. Urinary catecholamine excretion was significantly increased and the diagnosis of extrasurrenal prerenal sympathoblastoma was preoperatively suspected. Transverse laparotomy founded an encapsulated solid tumor, widening the duodenal loop and developing in the head of the pancreas. A cephalic duodenopancreatectomy was performed with an un eventful post-operative course. Histopathological examination confirmed it was a ganglioneuroblastoma of the head of the pancreas with lymphatic metastasis and local invasion of the neighbouring pancreas with immature tissues. The child was then treated with radiotherapy (35 Grays) and chemotherapy (Oncovin-Endoxan alternated with Oncovin-Adriamycine). The boy is now in good health with a two years follow up. Malignant pancreatic tumors are exceedingly rare in the pediatric age group (about 40 cases in the literature). Most of them are carcinoma and sympathoblastoma is quite exceptional (Research has yielded only one case : Bienaymé, 1976). The presence of a nervous tumor in such an unusual position explains the lack of precision in the preoperative location and brings up the difficult question of prognosis. It leads to pathogenic hypothesis.

Child, Preschool↗
PubMed1980

[Pyloric duplication with pancreatic heterotopia (author's transl)].

This is a case report concerning an 11 month old young boy with a pyloric duplication resulting in an acute gastric outlet obstruction. Pyloric duplications are rare anomalies of the gastro intestinal tract, usually cystic and few have been reported with pancreatic heterotopia and cytosteatonecrosis. Pathogenesis is quite uncertain. Most of them are discovered in the first year of life, mimicking an hypertrophic pyloric stenosis or resulting in an emergency like our case. The treatment is surgical and must choose between radical excision with sometimes partial gastrectomy or antro-pylorectomy, and incomplete resection because of its benign condition.

Choristoma↗