Background And Objectives: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia with associated primary immunodeficiency. The aim of this cross-sectional study was to examine oral health indicators in individuals with CHH.
Methods: In total, 23 individuals with CHH, aged between 4.5 and 70 years, and 46 controls aged between 5 and 76 years were clinically examined for periodontal disease, presence of oral mucosal lesions, tooth decay, masticatory system function, and malocclusions. A chairside lateral flow immunoassay test of active-matrix metalloproteinase was obtained from all the adult participants with a permanent dentition. Laboratory signs of immunodeficiency were recorded for individuals with CHH.
Results: Individuals with CHH and controls had similar prevalence of gingival bleeding on probing (median 6% vs. 4%). Oral fluid active-matrix metalloproteinase concentration was greater than 20 ng/ml in 45% of study subjects in both groups. However, deep periodontal pockets, 4 mm or deeper, were more common in individuals with CHH as compared to the controls (U = 282.5, p = 0.002). Similarly mucosal lesions were significantly more common in individuals with CHH (30% vs. 9%, OR = 0.223, 95%CI 0.057-0.867). The median sum of the number of decayed, missing due to caries, and filled teeth was nine for the individuals with CHH and four for controls. In the CHH cohort, 70% displayed an ideal sagittal occlusal relationship. Malocclusion and temporomandibular joint dysfunction prevalence were similar in both study groups.
Conclusions: Individuals with CHH have more frequently deep periodontal pockets and oral mucosal lesions than general population controls. Routine intraoral examination by a dentist at regular intervals should be recommended to all individuals with CHH.
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http://dx.doi.org/10.1186/s13023-023-02758-7 | DOI Listing |
Sci Rep
January 2025
Department of Biomedical Engineering, Kyung Hee University, 446-701 Electronic Information College Building, Kyunghee Univ, Global Campus, Seocheon-dong, Giheung-gu, Yongin-si, Gyeonggi, Republic of Korea.
Artificial intelligence (AI) is being increasingly applied in healthcare to improve patient care and clinical outcomes. We previously developed an AI model using ICD-10 (International Classification of Diseases, Tenth Revision) codes with other clinical variables to predict in-hospital mortality among trauma patients from a nationwide database. This study aimed to externally validate the performance of the AI model.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
January 2025
Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: This study aimed to evaluate the long-term effects of hormone therapies on the body composition, adipokines and metabolic parameters of adult men with congenital hypogonadotropic hypogonadism (CHH).
Methods: Sixty-six patients with CHH and 21 healthy controls were recruited. Patients were divided into untreated (n = 33) and treated (n = 33) groups based on hormone therapy history.
Theranostics
January 2025
Department of Clinical Physiology, Nuclear Medicine & PET and Cluster for Molecular Imaging (CMI), Copenhagen University Hospital, Rigshospitalet & Department of Biomedical Sciences, University of Copenhagen, Denmark.
: In oral and oropharyngeal squamous cell carcinoma (OSCC, OPSCC), frequent inadequate surgical margins highlight the importance of precise intraoperative identification and delineation of cancerous tissue for improving patient outcomes. : A prospective, open-label, single-center, single dose, exploratory phase II clinical trial (EudraCT 2022-001361-12) to assess the efficacy of the novel uPAR-targeting near-infrared imaging agent, FG001, for intraoperative detection of OSCC and OPSCC. Macroscopic tumor detection was quantified with sensitivity and intraoperative tumor-to-background ratio (TBR).
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Centre for Bioinnovation, University of the Sunshine Coast, Sippy Downs, QLD 4556, Australia.
RNA interference (RNAi)-based biotechnology has been previously implemented in decapod crustaceans. Unlike traditional RNAi methodologies that investigate single gene silencing, we employed a multigene silencing approach in decapods based on chimeric double-stranded RNA (dsRNA) molecules coined 'gene blocks'. Two dsRNA constructs, each targeting three genes of the crustacean hyperglycaemic hormone (CHH) superfamily of neuropeptides, were produced: Type II construct targeting Molt-inhibiting hormone 1 (MIH1), MIH-like 1 (MIHL1), and MIHL2 isoforms and Type I construct targeting ion transport peptide (ITP; a putative hybrid of CHH and MIH) and CHH and CHH-like (CHHL) isoforms.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
February 2025
Department of Andrology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Introduction: Hypogonadotropic hypogonadism (HH) is a treatable cause of nonobstructive azoospermic male infertility. Gonadotropin treatment can successfully induce spermatogenesis in most patients, although comprehensive quantitative summary data on spermatogenic outcomes like those required to induce pregnancy is lacking in the literature.
Materials And Methods: Systematic review and meta-analysis of outcomes related to male reproductive function following gonadotropin treatment.
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