Medicine
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High prevalence of obstructive sleep apnea (OSA) has increased the demands for more convenient and accessible diagnostic devices other than standard in-lab polysomnography (PSG). Despite the increasing utility of photoplethysmograph (PPG), it remains understudied in underserved populations. This study aimed to evaluate the reliability of a standard pulse oximeter system with an automated analysis based on the PPG signal for the diagnosis of OSA, as compared with PSG derived measures. ⋯ The overall sensitivity and specificity of PPG are good, especially in moderate and severe OSA groups. The tested PPG approach yielded acceptable results compared to the gold standard PSG among moderate to severe OSA patients. A pulse oximeter system with PPG recording can be used for the diagnosis or screening of OSA in high risk population.
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Case Reports
Marked response to nab-paclitaxel in EGFR mutated lung neuroendocrine carcinoma: A case report.
Lung cancer is the leading cause of cancer-related death in the world. Tyrosine kinase inhibitors (TKIs), which target mutated epidermal growth factor receptor (EGFR), have been the first-line treatment of late-stage lung adenocarcinoma harboring EGFR mutation. EGFR mutations are mostly identified in lung adenocarcinoma. However, it is rarely seen in lung neuroendocrine carcinoma, and treatment strategies remain under reported. ⋯ This case highlights that EGFR mutated lung neuroendocrine carcinoma is not responsive to single-agent EGFR-TKI. However, combined application with nab-paclitaxel can improve its efficacy and prolong the patient's survival.
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Case Reports
Emotional exhaustion-induced latent autoimmune diabetes in adults in a young lady: A CARE-compliant case report.
Latent autoimmune diabetes in adults (LADA) refers to an autoimmune disorder characterized with detectable islets antibodies in the early diagnosis and increased autoimmune beta-cell failure progression. Notably, this kind of diabetes seems to be confused with other phenotypic diabetes. ⋯ The emotional exhaustion might play a significant role in induction of LADA. It is important that individuals should maintain optimism, cheer, and a positive attitude.
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Observational Study
The genetic association between polymorphisms in lymphotoxin-α gene and ankylosing spondylitis susceptibility in Chinese group: A case-control study.
The study was designed to reveal the genetic relationship of lymphotoxin-α (LTA) polymorphisms with risk of ankylosing spondylitis (AS) in Chinese Han population. LTA polymorphisms were genotyped by polymerase chain reaction-direct sequencing (PCR-DS) in 138 AS patients and 141 healthy controls. The genotype distribution in control group was checked the status of Hardy-Weinberg equilibrium (HWE). ⋯ Multivariate analysis demonstrated that the G allele (OR = 1.52, 95%CI = 1.05-2.15) and GG genotype (OR = 2.36, 95%CI = 1.06-5.24) of rs909253 were still positively associated with AS susceptibility. However, there was no significant association between AS risk and rs2239704 or rs2229094. LTA rs909253 polymorphism contributes to the occurrence of AS.
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Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. ⋯ This mutation was in accordance with previously reported gene mutations. The patient's parents were nonconsanguineous; her parents, paternal grandfather, and maternal grandmother were all found to be carriers of a STAR gene mutation. This 46 XY disorders of sex development case presented with adrenal insufficiency and female phenotype initially. The diagnosis was complicated depending on the clinical hormone workup. LCAH was confirmed by genetic tests and genogram of the family.