21 Italian families with at least two members who had had febrile convulsions (FC) were HLA-typed for class I antigens. A total of 49 subjects and 43 close relatives (parents or sibs) were examined. No single antigen or haplotype was statistically more frequent among pooled FC subjects. The study, however, is not conclusive regarding a relationship between FC and HLA region because of the possible genetic heterogeneity of proneness to FC. In a significant proportion of cases two FC affected sibs had unaffected parents: besides the models of inheritance so far proposed for this pathology, the involvement of two complementary dominant factors was also considered. The report includes uncommon cases: a family where one FC affected parent transmitted the same HLA haplotype to all three affected sibs; two more families, with both parents and progeny affected by FC. The HLA typing of all members of these unusual families, although not furnishing relevant information at present, may be of value to other investigators.
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http://dx.doi.org/10.1007/BF02337441 | DOI Listing |
RSC Chem Biol
January 2025
Department of Chemistry, Emory University Atlanta GA 30322 USA
Members of the old yellow enzyme (OYE) family utilize a flavin mononucleotide cofactor to catalyze the asymmetric reduction of activated alkenes. The 2-enoate reductase (2-ER) subfamily are of particular industrial relevance as they can reduce α/β alkenes near electron-withdrawing groups. While the broader OYE family is being extensively explored for biocatalytic applications, oxygen sensitivity and poor expression yields associated with the presence of an Fe/S cluster in 2-ERs have hampered their characterization.
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Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University, Xinjiang Medical University Urumqi Xinjiang China.
a member of the family, is known for its diverse biological activities, including anti-inflammatory properties. The mechanisms through which polysaccharide (LTP) induces autophagy, however, remain largely unexplored. This study aims to elucidate the role of LTP in autophagy induction and its efficacy in mitigating inflammation within macrophages.
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January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
World J Clin Oncol
January 2025
Department of The Breast Center, Cancer Hospital of Shantou University Medical College, Shantou 515041, Guangdong Province, China.
The sine oculis homeobox homolog (SIX) family, a group of transcription factors characterized by a conserved DNA-binding homology domain, plays a critical role in orchestrating embryonic development and organogenesis across various organisms, including humans. Comprising six distinct members, from to , each member contributes uniquely to the development and differentiation of diverse tissues and organs, underscoring the versatility of the SIX family. Dysregulation or mutations in genes have been implicated in a spectrum of developmental disorders, as well as in tumor initiation and progression, highlighting their pivotal role in maintaining normal developmental trajectories and cellular functions.
View Article and Find Full Text PDFMedEdPORTAL
January 2025
Associate Professor, Division of Palliative Medicine, Department of Family Medicine, Robert Larner, M.D., College of Medicine at the University of Vermont.
Introduction: Stigmatizing attitudes held by health care professionals against individuals with substance use disorder (SUD) result in worse clinical outcomes. Story-listening has been shown to help mitigate bias for medical trainees. We created a narrative-based small-group facilitated discussion between medical students and an individual in recovery from SUD through a direct partnership with a community peer-recovery organization.
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