Selected genetic disorders affecting Ashkenazi Jewish families.

Fam Community Health

School of Dentistry, Division of Public Health, Marquette University, Milwaukee, WI, USA.

Published: February 2007

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.

Download full-text PDF

Source
http://dx.doi.org/10.1097/00003727-200701000-00007DOI Listing

Publication Analysis

Top Keywords

genetic disorders
8
selected genetic
4
disorders ashkenazi
4
ashkenazi jewish
4
jewish families
4
families ashkenazi
4
ashkenazi jews
4
jews central
4
central eastern
4
eastern european
4

Similar Publications

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 PDF

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.

View Article and Find Full Text PDF

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 PDF

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 PDF

Genomic profiling at a single center cracks the code in inborn errors of immunity.

Intern 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.

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!