Objective: To identify factors associated with oral health care services for individuals with and without rare genetic diseases.
Materials And Method: A cross-sectional study was undertaken, with 140 individuals paired by sex and age (70 with rare genetic diseases and 70 without), aged between 3 and 27 years, and their parents. The sample was selected from two reference hospitals for patients with rare genetic diseases in southeastern Brazil. The parents completed a questionnaire on individual aspects and their child's medical/dental history. Participants who did and did not suffer from rare genetic diseases were examined for dental caries, malocclusion, dental anomalies, and oral hygiene. The theoretical model Directed Acyclic Graphs (DAG) was used to identify possible confounding variables in the association between rare diseases and access to dental care. Descriptive analyses and non-matched and matched logistic regression models (p < 0.05) were carried out.
Results: The chance of individuals without rare genetic disease having access to oral health care service was 5.32 times higher (95% CI 2.35-12.01) than those with such conditions. Individuals who had not suffered upper respiratory tract infections had a 3.16 times greater chance of being in the group with access to oral health care service (95% CI 1.45-6.90).
Conclusion: Individuals with no rare genetic diseases and no history of upper respiratory tract infections had a greater chance of belonging to the group of individuals with access to a dental service. Individuals with rare genetic diseases have less access to oral health care.
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http://dx.doi.org/10.1111/scd.12639 | DOI Listing |
Ophthalmol Ther
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.
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January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFHum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria.
Malaria has been a leading cause of death in human populations for centuries and remains a major public health challenge in African countries, especially affecting children. Among the five Plasmodium species infecting humans, Plasmodium falciparum is the most lethal. Ancient DNA research has provided key insights into the origins, evolution, and virulence of pathogens that affect humans.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Laboratory Medicine, Karolinska Institutet, ANA Futura, Alfred Nobels Allé 8, Floor 8, 14152, Huddinge, Sweden.
ITK-SYK and TEL-SYK (also known as ETV6-SYK) are human tumor-causing chimeric proteins containing the kinase region of SYK, and the membrane-targeting, N-terminal, PH-TH domain-doublet of ITK or the dimerizing SAM-PNT domain of TEL, respectively. ITK-SYK causes peripheral T cell lymphoma, while TEL-SYK was reported in myelodysplastic syndrome. BTK is a kinase highly related to ITK and to further delineate the role of the N-terminus, we generated the corresponding fusion-kinase BTK-SYK.
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