Background: It is unclear whether there are early clinical features that can distinguish between patients with familial and non-familial frontotemporal dementia (FTD). Objective: To compare the clinical features of FTD cases who have tau gene mutations with those of cases with a family history of FTD but no tau gene mutation, and with sporadic cases with neither feature. Methods and results: Co...

The paper presents a clinical case of successful kidney transplantation (KTx) in patient with end-stage chronic disease (ESKD) resulting from familial Mediterranean fever (FMF). Pre-transplant preparation and posttransplant management tactics are presented. authors conclude that ESKD can be effectively treated by KTx FMF against the background ongoing pathogenetic therapy autoinflammation.

purpose: to report a relatively rare case of familial exudative vitreoretinopathy (fevr). patient and findings: a 13-year-old boy referred with decreased visual acuity of both eyes, specially right eye from 6 years ago. he had several ophthalmologist and optometrist visits and spectacle prescription without any improvement of vision. best corrected visual acuity (bcva) was 25 cm of count finger...

BACKGROUND Japan has been witnessing a considerable increase in the number of children with psychosomatic disorders. The purpose of this study is to examine the relationship between the risk of psychosomatic disorder in adolescents and intra- and extra-familial adverse childhood experiences (ACEs). METHODS A retrospective cohort study of 1592 Japanese university students (52% male, mean age 1...

BACKGROUND Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). METHODS We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck para...

BACKGROUND/AIM The aim of this study was to investigate the relationship between familial Mediterranean fever and female sexual dysfunction and premenstrual syndrome. MATERIALS AND METHODS This study included 36 patients with familial Mediterranean fever and 33 healthy volunteers. Familial Mediterranean fever was diagnosed according to the Tel Hashomer criteria and familial Mediterranean feve...

BACKGROUND It is unclear whether there are early clinical features that can distinguish between patients with familial and non-familial frontotemporal dementia (FTD). OBJECTIVE To compare the clinical features of FTD cases who have tau gene mutations with those of cases with a family history of FTD but no tau gene mutation, and with sporadic cases with neither feature. METHODS AND RESULTS C...

background: in northeastern iran there is an area of high incidence of esophageal cancer which is populated by residents of turkmen ancestry. several environmental risk factors for esophageal cancer have been proposed, but the roles of familial and genetic factors have not been studied extensively in the turkmen population. materials and methods: we evaluated the importance of familial risk fac...

Since the year 2000, linezolid has been used in the United States to treat infections caused by antimicrobial-resistant Gram-positive cocci. At present, linezolid-resistant (Linr) Staphylococcus aureus and Staphylococcus epidermidis strains are rare and the diversity of their genetic backgrounds is unknown. We performed sequence-based strain typing and resistance gene characterization of 46 Lin...

The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases. However, it is important to consider the precise phenotype of murine models and how dependant it is upon genetic background. Here we compare and contrast murine models ...