Medicine
-
Observational Study
Clinical manifestations and genetic analysis of 4 children with chronic granulomatous disease.
Pediatricians are unfamiliar with chronic granulomatous disease (CGD) because of its rarity and paucity of available data, potentially leading to misdiagnosis, late treatments, and mortality. The main purpose of this study was to summarize the clinical manifestations and auxiliary examination findings of four children with CGD confirmed by genetic testing. This was a case series study of children hospitalized at the Pediatric Respiratory Department of Shandong Provincial Hospital. ⋯ Gene sequencing could provide molecular evidence for diagnosis. The treatments of CGD include the prevention and treatment of infections and complications. Immunologic reconstitution treatment is currently the only curative treatment for CGD.
-
Observational Study
Analysis of TATA-box binding protein associated factor 4b gene mutations in a Chinese population with nonobstructive azoospermia.
Nonobstructive azoospermia (NOA) is a severe form of male infertility. The molecular basis of NOA is still poorly understood. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of the TATA-box binding protein associated factor 4b (TAF4B) gene and NOA. ⋯ Gly4Val substitution may affect the structure of the TAF4B protein. The c.11G>T mutation of the TAF4B gene may be associated with NOA in a Chinese population. Bioinformatics analysis indicated this variation may play an important role in the process of spermatogenesis.
-
Limb synovial sarcoma (LSS) patients with metastasis at presentation usually have a very poor prognosis. Little is known about survival prediction and risk factors in these patients owing to the condition's rarity. Thus, this study examined the survival and prognostic variables of metastatic LSS. ⋯ The 3-year overall and cancer-specific survival rates of the entire group were 27.2% and 28.3%, respectively. Tumor size <10 cm, surgery, radiotherapy, and chemotherapy were independent predictors of improved overall and cancer-specific survival in the multivariate analyses. Comprehensive treatment for LSS patients with metastasis at diagnosis is necessary and effective and can prolong survival.