Glucose-6-PHOSPHATE dehydrogenase (GGPD; EC 1.1.1.49) deficiency is the most common human enzymopathy, affecting more than 200 million people worldwide. Although greater than 400 variants have been described based on clinical and biochemical criteria, little is known about the molecular basis of these GGPD deficiencies. Recently, the gene that encodes human G6PD has been cloned and sequenced, w...

U pper urinary tract transitional cell carcinoma (UUTTCC) accounts for 5% of all urothelial carcinomas. Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome predisposing to colorectal cancer that accounts for about 5% of all colorectal cancers. It is revealed by colorectal cancer (63%) or extracolonic cancers, most often of the endometrium (9%) or ovary, but some...

BACKGROUND Lithogenic bile is the major cause of cholesterol gallstone, but its pathogenesis is not well understood. The hypersecretion of biliary cholesterol is believed to be an important cause of lithogenic bile. Sterol Carrier Protein 2 (SCP2) participates in cholesterol trafficking and lipid metabolism in hepatocytes and may play a key role in cholesterol gallstone formation. METHODS 21 ...

BACKGROUND Survivors of hereditary retinoblastoma have an elevated risk of developing second malignancies, but data on the risk in middle-aged retinoblastoma survivors (ie, those with more than 40 years of follow-up) are scarce. METHODS Data from the Dutch retinoblastoma registry were used to analyze risks of second malignancies in 668 retinoblastoma survivors, diagnosed from 1945 to 2005 (me...

Leber's Hereditary Optic Neuropathy is a rare disease caused by mutation in the mitochondrial DNA. It appears most often young men, leading to profound, permanent loss of vision short time. There no specific treatment for this condition.Idebenone medicine that administered patients with hereditary optic neuropathy improves or stops deterioration vision. Increasing number people during therapy a...

AIMS A review of recent knowledge on heredital syndromes related to renal cell carcinoma. METHODS Aim of this review was to summarize the recent knowledge of genetic syndromes associated with renal cell carcinoma. RESULTS Summary of incidence and factors modulating risk of hereditary renal cell carcinoma development. CONCLUSIONS Hereditary forms of RCC are relatively rare. Their study is ...

AIM The aim of this study was to determine the (time trends in) incidence and survival of hereditary (familial and sporadic) and non-hereditary retinoblastoma for male and female patients born in the Netherlands between 1862 and 1995. METHOD The national retinoblastoma register was updated and now consists of 955 patients. The missing dates of death were obtained from the municipal registers ...

Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy worldwide. The precise prevalence of G6PD unknown in Burkina Faso. objective study was to describe difficulties diagnose this disease at Souro Sanou University hospital (CHUSS) Bobo-Dioulasso. It involved five patients comprising one child with homozygous SS sickle cell disease, adolescent screened following a family in...

Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the inciden...

In graph theory, the Helly property has been applied to families of sets, such as cliques, disks, bicliques, and neighbourhoods, leading to the classes of clique-Helly, disk-Helly, biclique-Helly, neighbourhood-Helly graphs, respectively. A natural question is to determine for which graphs the corresponding Helly property holds, for every induced subgraph. This leads to the corresponding classe...