Medicine
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Case Reports
A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD. ⋯ Early detection of mutations in the ABCD1 gene may facilitate diagnosis, genetic counseling and potentially aid prenatal diagnosis of the disease.
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Observational Study
Clear cell carcinoma of the ovary: Clinicopathologic features and outcomes in a Chinese cohort.
This retrospective analysis aimed to clarify the clinical and pathologic features of ovarian clear cell carcinoma (OCCC), and to determine the factors predictive of survival. Data waereextracted from OCCC patients who underwent primary surgery followed by adjuvant chemotherapy in Obstetrics & Gynecology Hospital of Fudan University between January2007 and December 2014. Kaplan-Meier survival estimates and Cox proportional hazards model were used for survival analyses. ⋯ FIGO stage and response to chemotherapy affect prognosis independently. Arising from endometriosis is not associated with better survival. Preoperative rupture rather than intraoperative rupture confers an adverse prognosis in otherwise stage IA disease.
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Since 1996, the Brazilian Department of Sexually Transmitted Infections (STI), AIDS and Viral Hepatitis (Departamento de Vigilância, Prevenção e Controle das IST, do HIV, AIDS e Hepatites Virais, Secretaria de Vigilância em Saúde, Ministério da Saúde) in collaboration with the Brazilian Ministry of Defense has conducted periodic and anonymous probability sample surveys to determine the human immunodeficiency virus (HIV) prevalence, the sexual and risk behaviors among conscripts of the Brazilian army. This study aimed to estimate the HIV seroprevalence of conscripts in Brazil by geographic region and to describe behavior in relation to the risk of HIV transmission by analyzing data from the Brazilian Conscripts Survey 8th edition performed in 2016. Conscripts were selected with a 2-stage sampling method stratified by geographical region. ⋯ The independent factors associated with HIV infection were: MSM status (odds ratio [OR] = 14.62; P = .000) and having more than 10 partners over their lifetime (OR = 3.32; P = .028). Our data suggest that the HIV prevalence among young men in Brazil remains stable except for the north region, and MSM continue to be associated with a high risk for HIV infection at a rate that is approximately 13-fold higher than the rate among men without a history of sex with another man. Our findings confirm the need to scale up combination HIV prevention for young men, including MSM, in Brazil.
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Case Reports
Rare ectopic metastasis from clear cell renal cell carcinoma to the chest wall after 10 years: A case report.
Clear cell renal cell carcinoma (CCRCC) is an aggressive tumor associated with a high risk of metastasis and very low survival rate. In addition, it can cause extensive blood metastasis to the lungs, bones, and other organs. Chest wall metastatic tumors from primary CCRCC are rare. ⋯ Our patient developed a metastatic chest wall tumor that originated from a CCRCC for which right nephrectomy had been performed 10 years previously. Although as per the literature, chest wall metastasis from CCRCC is very rare, it is important to consider tumor metastasis after several years of treatment for precise diagnosis and proper treatment.
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Observational Study
Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD). However, due to scarce data, clinical implications remain limited. The aim of the present study was to investigate the clinical impact of -10C>T SNP in the GLA. ⋯ Presence of isolated heterozygous -10C >T SNP is not associated with clinically relevant symptoms or organ manifestations as seen in FD. Respective polymorphisms might, however, play a role in modifying disease severity in FD. Great care has to be taken in respective subjects suspected to suffer from nonclassical FD in order to prevent unnecessary Fabry-specific therapy.