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Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.
Lab Med
September 2024
Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Warsaw, Poland.
Article Synopsis
- Cartilage hair hypoplasia (CHH) is a rare genetic disorder that can cause anemia, but there hasn't been a thorough review on this issue until now.
- The article examines studies on CHH-related anemia published between 1981 and 2022, highlighting that macrocytic anemia is common and blood transfusions are frequently used as treatment.
- Guidelines suggest using iron chelation therapy for patients needing multiple transfusions and emphasize the importance of regular monitoring of anemia symptoms and overall health, while future research should look into the erythroid system in a broader group of CHH patients.
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
Sci Rep
June 2024
Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil.
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.
View Article and Find Full Text PDFCartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.
Medicine (Baltimore)
May 2024
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Rationale: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.
Patient Concerns: Here, we report 2 cases of Korean children with CHH-AD.
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.
J Clin Immunol
April 2024
Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.
Orphanet J Rare Dis
April 2024
Department of Oral and Maxillofacial Diseases, Helsinki University Hospital Head and Neck Center, University of Helsinki, Haartmaninkatu 1, Helsinki, Finland.
Background: Cartilage-hair hypoplasia (CHH) is a rare syndromic immunodeficiency with metaphyseal chondrodysplasia and increased risk of malignancy. In this cross-sectional observational study, we examined HPV status and oral microbiome in individuals with CHH. Oral brush samples were collected from 20 individuals with CHH (aged 5-59 years) and 41 controls (1-69 years).
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