ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions

Is abnormal adrenergic activation associated with abnormal Heart Rate Recovery?

BACKGROUND Heart Rate Recovery (HRR) reflects the capacity of the cardiovascular system to reverse the vagal withdrawal caused by exercise. Scintigraphy with metaiodobenzylguanidine (I(123) MIBG) evaluates innervation and cardiac adrenergic activation. The association of these two methods is not well established. OBJECTIVE To evaluate the association between HRR and washout rate (WO) of I(123...

Is Sudden Hearing Loss Associated with Atherosclerosis?

Introduction: Sudden sensorineural hearing-loss (SSNHL) patients constitute approximately 2–3% of referrals to ear, nose and throat (ENT) clinics. Several predisposing factors have been proposed for this condition; one of which is vascular disorders and perfusion compromise. In this research the atherosclerotic changes and their known risk factors are studied in SSNHL patients.   Materials and ...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension

BACKGROUND A high prevalence of the R563Q mutation of the epithelial sodium channel β-subunit has been reported in South African hypertensives compared with unrelated normotensive controls. To delineate the effects of this mutation against a more uniform genetic background, this study investigated the association of the mutation with hypertension within affected kindreds. METHODS Forty-five i...

Sarcoidosis is not associated with BRAFV600E mutation

Purpose/Aim of the study: BRAFV600E is an oncogenic point mutation in the MAPK/ERK signaling pathway, which is important for cell proliferation and migration. It has been found to be associated with several malignancies and has also been found in significant proportions of patients with Langerhans cell histiocytosis. A recent mouse model which introduces the BRAFV600E mutations only into dendri...