Medicine
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Peroral endoscopic myotomy (POEM) is an endoscopic alternative to surgical myotomy in patients with achalasia. This study aimed to evaluate the efficacy and clinical outcomes of POEM. A total of 20 patients with achalasia who underwent POEM between October 2016 and November 2017 were prospectively recruited. ⋯ The median Eckardt scores were decreased after POEM (5 [range 2-11] to 1 [range 0-3], P < .001), and the 36-item short-form health survey score was also improved significantly after POEM (67.5 [range 34.5-93.9] to 85.7 [range 53.4-93.3], P = .004). POEM is an effective treatment for achalasia, based on the improvement of both symptoms and objective measures. Clinicaltrial.gov NCT02989883.
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Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature. ⋯ This is the first time to report a nonsense variant in CNKSR2, c.625C > T(p.Gln209∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked syndromic mental retardation.
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Case Reports
A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article.
Several hereditary myopathies that can predispose to malignant hyperthermia (MH) are reported. However, the risk of MH in myotonic dystrophy type I (DM1) has been suggested equal to general population, although the evidence is limited to only a few case reports. ⋯ The authors suggest that possible MH susceptibility in DM1 patients may be refocused. Genetic testing can be a screening tool for MH susceptibility in these population, prior to receiving general anesthesia.
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Female pelvic floor dysfunction is one of the common chronic diseases affecting women's physical and mental health. Pregnancy and delivery are one of the main causes. Pelvic floor rehabilitation is a common method for the treatment of postpartum pelvic floor dysfunction, but it has some defects. Acupoint injection has advantages in the treatment of postpartum pelvic floor dysfunction, but there is a lack of standard clinical research to verify it. Therefore, the purpose of this randomized controlled trial is to evaluate the efficacy and safety of acupoint injection combined with pelvic floor rehabilitation in the treatment of postpartum pelvic floor disorders. ⋯ This study will evaluate the efficacy and safety of acupoint injection combined with pelvic floor rehabilitation in the treatment of postpartum pelvic floor dysfunction, and provide reliable reference for the clinical application of this project.
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Cosmetic appearance is a major concern for living donors. However, little is known about the impact of a surgical scar on body image changes in living liver donors. The aim of this study was to identify potential factors that cause displeasing upper midline incision scar, and to evaluate the overall satisfaction regarding body image and scarring after living donor hepatectomy. ⋯ Donors who reported having a higher satisfaction with their scar appearance usually had more self-confidence. However, the body image won't be affected. Medical staff should encourage donors to take active participation in wound care and continuously observe the impact of surgical scars on psychological changes in living liver donors.