Familial Mediterranean fever (FMF) is a heterogeneous disorder; at present, it is diagnosed using only genetic methods. In the current study, we performed molecular analysis in two families presenting with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with different clinical presentation. In the second family, we identified the M694V and K695R mutations in a presymptomatic carrier.

Download full-text PDF

Source
http://dx.doi.org/10.1089/gte.2007.0068DOI Listing

Publication Analysis

Top Keywords

clinical presentation
8
intrafamilial clinical
4
presentation fmf
4
fmf mutation
4
mutation carriers
4
carriers familial
4
familial mediterranean
4
mediterranean fever
4
fever fmf
4
fmf heterogeneous
4

Similar Publications

Parent-led cognitive behavioral therapy (CBT) is an efficient, promising form of therapy that may be well suited for autistic youth with anxiety disorders. A recent clinical trial found that parent-led CBT - in which parents led their child through a guided CBT workbook with varying degrees of therapist support - was efficacious for reducing anxiety and associated functional impairment. While such findings demonstrate promise for future intervention development and dissemination efforts with this population, more work is needed to elucidate clinical factors that impact response to treatment as well as drop-out.

View Article and Find Full Text PDF

We report a case of Acanthamoeba infection in an HCT recipient with steroid-refractory GVHD. We highlight the multiple challenges that free-living ameba infections present to the clinician, the clinical laboratory, transplant infectious disease for review, hospital epidemiology if nosocomial transmission is considered, and public health officials, as exposure source identification can be a significant challenge. Transplant physicians should include Acanthamoeba infections in their differential diagnosis of a patient with skin, sinus, lung, and/or brain involvement.

View Article and Find Full Text PDF

Impact of adipocytes on ultrasound evaluation of parathyroid adenomas.

J Med Ultrason (2001)

December 2024

Department of Internal Medicine, Kuma Hospital, Kobe, Hyogo, 650-0011, Japan.

Purpose: Parathyroid lipoadenomas are difficult to recognize preoperatively; hence, they may remain undetected. Difficulty in recognition is thought to be due to the adipocytes present in the tumor. This study aimed to clarify the impact of adipocytes as a component of parathyroid adenomas on ultrasound evaluation.

View Article and Find Full Text PDF

Purpose Of Review: The canonical pathogenesis of spondyloarthritis (SpA) involves inflammation driven by HLA-B27, type 3 immunity, and gut microbial dysregulation. This review based on information presented at the SPARTAN meeting highlights studies on the pathogenesis of SpA from the past year, focusing on emerging mechanisms such as the roles of microbe-derived metabolites, microRNAs (miRNAs) and cytokines in plasma exosomes, specific T cell subsets, and neutrophils.

Recent Findings: The induction of arthritis in a preclinical model through microbiota-driven alterations in tryptophan catabolism provides new insights as to how intestinal dysbiosis may activate disease via the gut-joint axis.

View Article and Find Full Text PDF

Introduction: Tumorous growths in the sellar region pose significant clinical challenges due to their proximity to critical visual structures such as the optic chiasm and optic nerves. Given their proximity to the optic system, these tumors are often diagnosed due to a progressive decrease in visual acuity. Thus, surgical intervention is crucial to prevent irreversible damage, as timely decompression can halt the progression of edema and subsequent optic atrophy.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!