Publications by authors named "Yunting Yu"

Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old boy from the Dominican Republic originally diagnosed with congenital adrenal hyperplasia (CAH).

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Nearly 95% of Alzheimer's disease (AD) occurs sporadically without genetic linkage. Aging, hypertension, high cholesterol content, and diabetes are known nongenomic risk factors of AD. Aggregation of Aβ peptides is an initial event of AD pathogenesis.

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Article Synopsis
  • Researchers studied how certain genetic changes, called copy number variants (CNVs), affect immune system problems in kids.
  • They tested 332 children and found that many could be diagnosed using two types of genetic tests: exome sequencing (ES) and chromosomal microarray analysis (CMA).
  • Combining both tests helped doctors understand complicated cases better and sometimes find more than one issue causing the health problems.
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Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in and heterozygous pathogenic variants in , respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.

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Article Synopsis
  • This study focused on a holistic genetic evaluation of patients with immune-related issues, recognizing that multiple genetic factors might contribute to their health conditions rather than just a single gene explanation.
  • Researchers analyzed genetic data from 1505 individuals, uncovering 361 molecular diagnoses linked to various immune presentations, with significant updates obtained through reanalysis and new gene discoveries.
  • The findings indicate that the majority of molecular diagnoses could inform treatment options, highlighting the potential for whole exome analysis to enhance our understanding of genetic contributions to health on a large scale.
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