BACKGROUND AND PURPOSE CCMs are commonly associated with DVAs, but the incidence of association in familial CCM is unknown. The presence of a DVA significantly complicates surgical management of a CCM because of the risk of compromised venous drainage. In this investigation, we compared the incidence of a DVA in the presence of a CCM in sporadic and familial CCM cases comprising predominantly f...

Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the q...

BACKGROUND Myeloproliferative neoplasms constitute a group of diverse chronic myeloid malignancies that share pathogenic features such as acquired mutations in the JAK2, TET2, CBL and MPL genes. There are recent reports that a JAK2 gene haplotype (GGCC or 46/1) confers susceptibility to JAK2 mutation-positive myeloproliferative neoplasms. The aim of this study was to examine the role of the JAK...

BACKGROUND Studies from Europe and North America suggest that 20 - 50% of patients with dilated cardiomyopathy (DCM) may have familial disease. There is little information on the frequency and clinical genetics of familial DCM in Africa. PURPOSE To determine the frequency and probable mode of inheritance of familial DCM in patients referred for investigation of the cause of DCM at a tertiary ...

background hepatitis c virus (hcv) is a major cause of chronic liver disease worldwide. the role of intra familial hcv transmission is still controversial. the aim of the present study is to determine intra familial transmission (sexual and non sexual contacts) of hcv in a group of iranian population. patients and methods in this historical cohort study, 270 first degree relatives of hepatitis ...

BACKGROUND Navajo Familial Neurogenic Arthropathy is a disease identified in Navajo children, primarily residing in Arizona, New Mexico, and Utah. To date, there are no reports in the orthopaedic literature regarding this disorder, particularly the clinical manifestations and treatment considerations. METHODS We carried out a retrospective chart and radiographic review of 2 patients with Nava...

Public perception and anxiety of familial cancer have increased demands for clinical counseling, which may be well equipped for gene testing but less prepared for counseling of the large domain of familial cancer with unknown genetic background. The aim of the present study was to highlight the full scope of familial cancer and the variable levels of risk that need to be considered. Data on the...