38 research outputs found

    A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese

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    To investigate the underlying mechanisms of T2D pathogenesis, we looked for diabetes susceptibility genes that increase the risk of type 2 diabetes (T2D) in a Han Chinese population. A two-stage genome-wide association (GWA) study was conducted, in which 995 patients and 894 controls were genotyped using the Illumina HumanHap550-Duo BeadChip for the first genome scan stage. This was further replicated in 1,803 patients and 1,473 controls in stage 2. We found two loci not previously associated with diabetes susceptibility in and around the genes protein tyrosine phosphatase receptor type D (PTPRD) (Pβ€Š=β€Š8.54Γ—10βˆ’10; odds ratio [OR]β€Š=β€Š1.57; 95% confidence interval [CI]β€Š=β€Š1.36–1.82), and serine racemase (SRR) (Pβ€Š=β€Š3.06Γ—10βˆ’9; ORβ€Š=β€Š1.28; 95% CIβ€Š=β€Š1.18–1.39). We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest signal at rs2237895 (Pβ€Š=β€Š9.65Γ—10βˆ’10; ORβ€Š=β€Š1.29, 95% CIβ€Š=β€Š1.19–1.40). By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the involvement of KCNQ1, which was previously reported to be associated with T2D in Japanese and European descent populations, our results may lead to a better understanding of differences in the molecular pathogenesis of T2D among various populations

    Unusual manifestations of soft tissue metastasis

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    Lymphangioleiomyomatosis Initially Presenting with Abdominal Pain: A Case Report

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    Lymphangioleiomyomatosis (LAM) is a rare idiopathic disease characterized by hamartomatous smooth muscle proliferation of the lymph node, lymphatics, blood vessels as well as airways within the lungs, mediastinum and abdomen. It exclusively affects women during the reproductive period. Though extrapulmonary manifestations have been reported, the initial presentation of LAM as abdominal pain is extremely rare. To our knowledge, there are only three cases with LAM presenting first with abdominal symptoms so far [Chest 106 ( 1994) 267; Eur J Radiol 14 (1992) 192; Eur J Surg 157 (1991 ) 36]. We describe a case of LAM suffering from abdominal pain followed by pulmonary symptoms and the diagnosis was not made until pathohistological examination

    Eosinophilic Esophagitis in an Asymptomatic Chinese

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    Eosinophilic esophagitis is a growing problem in adults in Western countries. It is characterized by nausea, vomiting, dysphagia, food impaction, epigastralgia, heart burn and chest pain. Histologic survey is the most potent diagnostic tool. The diagnostic hallmark is the presence of more than 20 eosinophils per high-powered field on esophageal specimen and the absence of mucosal eosinophilia in the stomach. We herein report an asymptomatic Chinese male with eosinophilic esophagitis, which to the best of our knowledge is the first reported case in Asia. The unusual feature of the current case was the lack of symptoms. This case confirms that a dense infiltration of esophageal eosinophils can occur asymptomatically

    Tuberculous Infection of the Wrist: MRI Features

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    The Impact of Mouth-Taping in Mouth-Breathers with Mild Obstructive Sleep Apnea: A Preliminary Study

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    Background: Many patients with obstructive sleep apnea (OSA) are mouth-breathers. Mouth-breathing not only narrows the upper airway, consequently worsening the severity of OSA, but also it affects compliance with nasal continuous positive airway pressure (CPAP) treatment. This study aimed to investigate changes in OSA by the use of mouth tape in mouth-breathers with mild OSA. Method: Mouth-breathers with mild OSA who met inclusion criteria and tolerated the sealing of the mouth were enrolled in the study. We used 3M silicone hypoallergenic tape was used to seal the mouths of the participants during sleep. The home sleep test (HST) used in this study was ApneaLink®. Subjects received both a baseline HST and an outcome HST to be used 1 week later while their mouths were taped. The changes between the baseline and the outcome HSTs were compared, and the factors that influenced the differences in the sleep-test parameters after the shift of the breathing route were analyzed. A “responder” was defined as a patient who experienced a reduction from the baseline snoring index of at least 50% under mouth-taping in the HST; otherwise, patients were considered as having a poor response. Results: A total of 20 patients with mild OSA were included. Following the taping of the mouth, a good response was found in 13 patients (65%). The median apnea/hypopnea index (AHI) decreased significantly, from 8.3 to 4.7 event/h (by 47%, p = 0.0002), especially in supine AHI (9.4 vs. 5.5 event/h, p = 0.0001). The median snoring index (SI) was also improved (by 47%, 303.8 vs. 121.1 event/h, p = 0.0002). Despite no significant difference in the mean saturation, improvements in the oxygen desaturation index (8.7 vs. 5.8, p = 0.0003) and the lowest saturation (82.5% vs. 87%, p = 0.049) were noted. The change in AHI was associated with baseline AHI (r = −0.52, p = 0.02), oxygen desaturation index (ODI) (r = −0.54, p = 0.01), and SI (r = −0.47, p = 0.04). The change in SI was strongly associated with baseline SI (r = −0.77, p = 0.001). Conclusions: Mouth-taping during sleep improved snoring and the severity of sleep apnea in mouth-breathers with mild OSA, with AHI and SI being reduced by about half. The higher the level of baseline AHI and SI, the greater the improvement was shown after mouth-taping. Mouth-taping could be an alternative treatment in patients with mild OSA before turning to CPAP therapy or surgical intervention

    Clinical Challenges and Images in GI

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