BACKGROUND Salivary gland cancer (SGC) accounts for 3-5% of head and neck malignancies, and register-based studies estimate the familial proportion to be 0.15%. OBJECTIVE We studied familial predisposition for SGC in the genetically distinct Finnish population. PATIENTS AND METHODS We sent a patient questionnaire to 161 Finnish SGC patients, 86 of whom responded. RESULTS A total of 76% of...

BACKGROUND Congenital superior oblique palsy is usually associated with a structural abnormality of the superior oblique tendon. There have been many reports of familial congenital superior oblique palsy. However, there has been no MRI documentation of familial superior oblique hypoplasia. METHODS Ophthalmological examination and orbital MRI were performed in three patients in a pedigree with...

Background: Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding region...

BACKGROUND Familial clustering of incident prostate cancer and some cancers at other discordant sites has been reported. Less is known about familial clustering of fatal prostate cancer with any fatal discordant cancers. Estimates on familial aggregation based on mortality are free from bias of overdiagnosis. PATIENTS AND METHODS We used the nationwide Swedish Family-Cancer Database to calcul...

BACKGROUND Breast cancer is the most common cancer affecting women all over the world. In addition to hormonal and environmental causes, family history is emerging as an important risk factor in the etiology of this disease. The aim of the present study is thus to compare the clinico-pathological features of familial and sporadic breast cancer in Moroccan patients. METHODS A comparative retro...

familial colloid cyst of the third ventricle is very rare. this is one of the two largest families reported and the first in which all affected members are siblings. one asymptomatic sister was found by screening, emphasizing the value of screening. a brother and two sisters from a family consisting of three brothers and three sisters who were diagnosed as having colloid cyst of the third ventr...

Objective The present study sought to explore how support from one's family of origin predicts the development self-esteem across transition adulthood for sexual minority individuals compared with their heterosexual peers. Background Familial relationships have an influence on self-esteem. Additionally, lesbian, gay, and bisexual emerging adults may perceive less families than Methods used seco...

Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. LGI1 and RELN have been identified as the main cause Autosomal Dominant EAF anecdotally reported in non-familial cases. Pathogenic variants SCN1A DEPDC5 also described few probands belonging to families heterogeneous phenotypes incomplete penetrance. We aimed estimate contribution these genes disorde...

abstract bachground and aim: mutation analysis of mitochondrial genome and brca genes are helpful in the early diagnosis of familial breast cancers. in this study, we investigated mitochondrial common deletion and brca mutations through multiplex pcr and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. methods: the multiplex pcr was conducted o...