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.
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http://dx.doi.org/10.1089/gte.2007.0068 | DOI Listing |
J Autism Dev Disord
December 2024
Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, 1977 Butler Boulevard, Houston, TX, 77030, USA.
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 PDFTranspl Infect Dis
December 2024
Transplant Infectious Diseases, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, Maryland, USA.
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 PDFJ 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 PDFCurr Rheumatol Rep
December 2024
Department of Medicine, Division of Rheumatology, Queen's University, Kingston, ON, Canada.
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.
Acta Neurochir (Wien)
December 2024
Medical Faculty of Heidelberg University, Heidelberg, Germany.
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.
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