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Background: Developmental dysplasia of the hip (DDH) is a common cause of childhood disability, and the incidence of DDH shows significant familial aggregation. As the genetic factors of DDH remain unknown, the correlation between five candidate single nucleotide polymorphisms (SNPs) and DDH was evaluated in the Han Chinese population of Southwest China.
Methods: A case‒control association study was conducted in 276 patients with DDH and 318 healthy controls. SNP genotyping in the case and control groups was performed by SNPshot and multiple PCR. SNPs were genotyped in the case and control groups by multiplex PCR. The relationship between DDH and candidate SNPs was evaluated using the χ2 test.
Results: The genotype distributions of rs291412 in HIBCH and rs769956 in FTCDNL1 were different between the case and control groups (P < 0.05). After genetic model analysis, logistic regression analysis revealed that the C allele of rs291412 had a protective effect on DDH (OR = 0.605, P = 0.010) and that the G allele of rs769956 was a risk factor (OR = 2.939, P = 0.010).s.
Conclusion: These SNPs could be associated with susceptibility to DDH but larger population-based studies should confirm the current results.
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http://dx.doi.org/10.1186/s13018-024-04958-8 | DOI Listing |
J Trace Elem Med Biol
September 2025
Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Electronic address:
Objective: We previously documented that exposure to a spectrum of elements is associated with autism spectrum disorder (ASD). However, there is a lack of mechanistic understanding as to how elemental mixtures contribute to the ASD development.
Materials And Methods: Serum and urinary concentrations of 26 elements and six biomarkers of ASD-relevant pathophysiologic pathways including serum HIPK 2, serum p53 protein, urine malondialdehyde (MDA), urine 8-OHdG, serum melatonin, and urine carnitine, were measured in 21 ASD cases and 21 age-matched healthy controls of children aged 6-12 years.
Int J Epidemiol
August 2025
Department of Biostatistics and Informatics, University of Colorado, Aurora, CO, United States.
Background: Existing longitudinal cohort study data and associated biospecimen libraries provide abundant opportunities to efficiently examine new hypotheses through retrospective specimen testing. Outcome-dependent sampling (ODS) methods offer a powerful alternative to random sampling when testing all available specimens is not feasible or biospecimen preservation is desired. For repeated binary outcomes, a common ODS approach is to extend the case-control framework to the longitudinal setting.
View Article and Find Full Text PDFAnn Am Thorac Soc
September 2025
Brigham and Women's Hospital, Division of Sleep and Circadian Disorders, Boston, Massachusetts, United States.
Rationale: There are insufficient data to inform the management of central sleep apnea (CSA) in patients with heart failure (HF) with reduced ejection fraction (HFrEF). Nocturnal oxygen therapy (NOT) has been postulated to benefit CSA patients with HFrEF, but has not been rigorously studied. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.
View Article and Find Full Text PDFEur J Gastroenterol Hepatol
August 2025
Department of Medical and Surgical Sciences, University of Bologna.
Background: Gastric cancer epidemiology evolved rapidly in the last century, shifting from being one of the main causes of cancer-related death to the sixth in high-income countries.
Methods: We conducted a narrative review on gastric cancer epidemiology. Our review focused on trends of gastric cancer and its relationship with Helicobacter pylori infection; cardia and noncardia gastric cancer risk factors; early onset gastric cancer; second primary cancers in patients with gastric cancer; and implementation of gastric cancer prevention strategies.
N Engl J Med
September 2025
Rwanda Biomedical Center, Kigali.
Background: On September 27, 2024, Rwanda reported an outbreak of Marburg virus disease (MVD), after a cluster of cases of viral hemorrhagic fever was detected at two urban hospitals.
Methods: We report key aspects of the epidemiology, clinical manifestations, and treatment of MVD during this outbreak, as well as the overall response to the outbreak. We performed a retrospective epidemiologic and clinical analysis of data compiled across all pillars of the outbreak response and a case-series analysis to characterize clinical features, disease progression, and outcomes among patients who received supportive care and investigational therapeutic agents.