The main aim of this paper is to examine and apply the Children of Siblings model to normally distributed outcome data. The model refers to siblings who are mothers/aunts and/or fathers/uncles and on whose children an outcome variable is measured. This is done through two statistical models. First a Hierarchical Linear Model (also known as multi-level model) which takes into account clustering ...

AIMS Women with inherited pathogenic mutations in the BRCA1 or BRCA2 genes have up to an 85% risk of developing breast cancer in their lifetime. However, only about 20% of familial breast cancer is attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2. Despite extensive efforts to...

557 GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy P. Striano, Y.G. Weber, M.R. Toliat, J. Schubert, C. Leu, R. Chaimana, S. Baulac, R. Guerrero, E. LeGuern, A.-E. Lehesjoki, A. Polvi, A. Robbiano, J.M. Serratosa, R. Guerrini, P. Nürnberg, T. Sander, F. Zara, H. Lerche, and C. Marini; on behalf of the EPICURE Consortium Editorial, p. 524 563 Domain-dependent cluste...

A 68-year-old man with a history of hypertension presented with recurrent subarachnoid bleeding. Brain MRI showed superficial siderosis, and diagnostic cerebral angiograms did not show any intracranial vascular malformation or arterial aneurism. Post mortem neuropathological examination of the brain was consistent with a diagnosis of cerebral amyloid angiopathy. Clinicians should be aware that ...

Background Among the infertility disorders, polycystic ovary syndrome (PCOS) is one of the most common, affecting approximately 4 million women in the U.S. and more than 100 million women worldwide.1 PCOS is characterized by both reproductive and metabolic dysfunctions with familial clustering.2 From a reproductive perspective, PCOS is a heterogeneous syndrome characterized by hyperandrogenism ...

there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...

OBJECTIVE The aim of this study was to screen Omani individuals for the familial aggregation of type 2 diabetes mellitus. METHODS A random cohort of 1182 Omani individuals visiting the Family Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, for regular medical checkup, aged ≥40 years, were sampled. Patients were categorized into three groups: (1) individuals who clai...

BACKGROUND Leiomyomatosis peritonealis disseminata (LPD) is defined as the occurrence of multiple tumorous intraabdominal lesions, which are myomatous nodules. LPD is a rare disease with only about 100 cases reported. The usual course of LPD is benign with the majority of the patients being premenopausal females. Only two cases involving men have been reported, no syndrome or familial occurrenc...

BACKGROUND Epidemiologic similarities between Hodgkin lymphoma in young adults (i.e., between 15 and 44 years old) and multiple sclerosis have led to the suggestion that these diseases may have related etiologies. Previous investigations have not supported this hypothesis, but the negative results could have been caused by methodologic problems. We therefore assessed the risk of developing Hodg...

Regarding the suggestion that presumptive sudden unexplained death syndrome (PSUDS) may be genetically associated, we recently conducted a study to reveal the clustering of the PSUDS in extended families. The data collection was done through case searching, interviewing using structured questionnaires and cross-referencing among informants. The precise criteria were used to identify the SUNDS c...