Ashkenazi Jews of Central and Eastern European ancestry have a disproportionately high prevalence of several autosomal recessive genetic disorders. This article describes these 9 disorders and their genetic inheritance patterns: Bloom syndrome; Canavan disease; cystic fibrosis; familial dysautonomia; Fanconi anemia; Gaucher disease; Mucolipidosis IV; Niemann-Pick disease; and Tay-Sachs disease. Genetic testing, counseling, and family planning options for the at-risk population are described. The role of the community health nurse is addressed.
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http://dx.doi.org/10.1097/00003727-200701000-00007 | DOI Listing |
JMIR Res Protoc
January 2025
Cystic Fibrosis Center, Department of Internal Medicine, Hospices Civils de Lyon, Research on Healthcare Performance U1290 Inserm, Lyon 1 University, Lyon, France.
Background: Diabetes affects half of the patients with cystic fibrosis who are aged 30 years and older. Diabetes progresses asymptomatically over a long period of time. Two treatment options are possible: start insulin as soon as cystic fibrosis diagnosis is made with the additional constraints of cystic fibrosis or wait while monitoring the patient's clinical condition and start insulin when diabetes symptoms develop and therefore later.
View Article and Find Full Text PDFAnn Rheum Dis
January 2025
Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. Electronic address:
Objectives: The dynamics of monosodium urate (MSU) crystal changes across a range of serum urate concentrations in people with gout are unknown. This study aimed to systematically examine the relationship between serum urate and changes in dual-energy CT (DECT) urate volume in people with gout and stable serum urate concentrations.
Methods: Individual participant data were analysed from three studies of people with gout.
Unicoronal synostosis is a rare condition leading to anterior plagiocephaly with facial scoliosis and deformation of the anterior cranial fossa. Fronto-orbital advancement and remodelling (FOAR) is the standard of care for management, aiming to normalise the brow shape and position while ameliorating the risk of raised intracranial pressure (ICP) throughout childhood. Published long-term surgical outcome data for unicoronal synostosis is lacking.
View Article and Find Full Text PDFFASEB J
January 2025
State Key Laboratory of Swine and Poultry Breeding Industry, Sichuan Agricultural University, Chengdu, China.
Triglyceride (TG) metabolism is a complex and highly coordinated biological process regulated by a series of genes, and its dysregulation can lead to the occurrence of disorders in lipid metabolism. However, the transcriptional regulatory mechanisms of crucial genes in TG metabolism mediated by enhancer-promoter interactions remain elusive. Here, we identified candidate enhancers regulating the Agpat2, Dgat1, Dgat2, Pnpla2, and Lipe genes in 3T3-L1 adipocytes by integrating epigenomic data (H3K27ac, H3K4me1, and DHS-seq) with chromatin three-dimensional interaction data.
View Article and Find Full Text PDFIntern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
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