Medicine
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Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.292G > A. ⋯ Genetic DNA sequencing is a crucial method for diagnosing hyperekplexia-related gene mutation.
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Anterior spinal meningoceles are rare neuroanatomic abnormality formed by protrusion of the spinal meninges through a defect in the vertebral column. Presently, therapeutic options for anterior spinal meningoceles are still controversial. The objective of this study is to discuss the individualized management of giant anterior spinal meningoceles. ⋯ Management of anterior spinal meningoceles often requires precise treatment based on the different conditions of each patient. Surgical intervention has been proposed for the treatment of symptomatic anterior spinal meningoceles. The goal of surgery is to safely disconnect the linkage between the cyst and CSF from subarachnoid space to prevent further enlargement of the cyst or reaccumulating of cystic fluid.
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Analyze salivary levels of dopamine and cortisol and muscle activity before and after treatment with low-level laser therapy administered to acupoints in children with DS. ⋯ A randomized, controlled, clinical trial will be conducted. Individuals 4 to 17 years of age with a diagnosis of DS and possible sleep bruxism will be screened at the Integrated Health Clinic of Nove de Julho University. We will evaluate orofacial dysfunction (Nordic Orofacial Test - Screening questionnaire), Masseter muscle activity during sleep will be assessed by BiteStrip and the masticatory muscles will be evaluated by electromyography (BTS TMJOINT) head posture as well as salivary cortisol and dopamine. After the evaluations, the participants will be randomized into 2 groups: Grupo 1 - treatment with low-level laser therapy at a wavelength of 808 nm; Group 2 - sham treatment (simulated laser therapy). Treatment will be conducted twice per week for a total of 12 sessions. The data will be tabulated and treated using GraphPad Prism version 7.0. The Kolmogorov-Smirnov test will be used to determine the normality of the data. Variables that fit the Gaussian curve will be expressed as mean and standard deviation. The ANOVA 2-way will be used for comparisons between the groups, with the significance level set to 5% (P < .05).ClinicalTrials registration number: NCT04211870.
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Case Reports
One-year follow-up of heart transplant recipient with cardiac rehabilitation: A case report.
Heart transplantation (HT) is known to be the final therapy for patients with advanced heart failure; however, the exercise capacity of these patients remains under the aged-predicted value after HT. Many studies have described the effectiveness and safety of cardiac rehabilitation (CR) in HT recipients. Nevertheless, long-term follow-up data of HT recipients undergoing CR are insufficient, and there is a lack of evidence on the long-term effects of CR. In this case report, we present the long-term benefits of CR in an HT recipient, including serial follow-up clinical data over 1 year. ⋯ CR in HT recipients may improve muscle strength and pulmonary function as well as exercise capacity, without serious cardiovascular complications. Phase III CR may help maintain exercise capacity in these patients.
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This study aimed to investigate the association between Serum Uric Acid (UA) to Creatinine (Cr) Ratio (UA/Cr) and metabolic syndrome (MetS) in postmenopausal women. A total of 455 patients with MetS and 457 age- and gender- matched controls were included in the present retrospective study. Serum levels of total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), fasting plasma glucose (FPG), Cr, and UA were measured. ⋯ In the correlation analysis, serum UA/Cr showed a significantly positive correlation with age, hypertension, systolic pressure (SBP), diastolic pressure (DBP), Waist, body mass index (BMI), TG, UA and negative correlation with type 2 diabetes mellitus (T2DM) and Cr (P all < .001). Moreover, multivariate analysis revealed that serum UA/Cr was still an independent risk factor for MetS (OR = 2.928, 95% CI = 2.385-3.596, P < .001) after adjustments for other confounders. Serum UA/Cr are strongly associated with the risk of MetS in postmenopausal Chinese women.