Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…
Trends in fetal autopsy and placental histopathology following stillbirth, United States, 2014–2023
Stillbirth affects approximately 1 in 175 births in the United States, totaling approximately 21,000 births each year [1].…
Clinical features and rare complications in 132 patients with hepatic glycogenosis | Orphanet Journal of Rare Diseases
The overall incidence of GSDs is approximately 1 case per 20,000–43,000 live births, and 80% of hepatic GSDs…
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases
Clinical findings The patient is the second child of healthy, non-consanguineous parents, who first presented at the age…
Multi-cohort machine learning identifies predictors of cognitive impairment in Parkinson’s disease
Harvey, J. et al. Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease. npj Parkinsons Dis.…
Weight-loss associated DNA methylation patterns: targetable biomarkers and pathway insights | BMC Research Notes
Processed datasets Public datasets were collected and analyzed independently. We utilized DNAm arrays from the Illumina EPIC platform,…
Determinants of inequalities in health care seeking behavior for childhood illness in Bangladesh: a trend analysis | BMC Public Health
Prevalence and trend for care seeking of childhood illnesses In this study, 17.1% (5,382) of children under five…
Access to digital health technologies: personalized framework and global perspectives
World Health Organization. Fifty-Eighth World Health Assembly. Geneva, 16–25 May 2005: Resolutions and Decisions Annex. WHO iris.who.int/bitstream/handle/10665/20398/A58_2005_REC1-en.pdf?sequence=1&isAllowed=y (2005).…
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases
Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided information…
Deep adaptive learning predicts and diagnoses CSVD-related cognitive decline using radiomics from T2-FLAIR: a multi-centre study
Patient enrolment and baseline characteristics A total of 783 subjects from three cohorts were included (Fig. S1) and…
The importance of funding and investment to strengthen data science in Africa
Data science (DS) plays a transformative role in advancing scientific discovery and informing policy by enabling the systematic…