HIGH DIAGNOSTIC YIELD OF TARGETED NEXT-GENERATION SEQUENCING IN A COHORT OF PATIENTS WITH CONGENITAL HYPOTHYROIDISM DUE TO DYSHORMONOGENESIS

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

ObjectiveTo elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).Study designWe studied 19 well-characterized patients diagnosed with CH and sofia barclay sexy DH by targeted NGS including genes involved in thyroid

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Clinical Effect of Electroacupuncture on Acute Sleep Deprivation and Event-Related Potential Affecting the Inhibition Control of the Brain: Study Protocol for a Randomized Controlled Trial

BackgroundAcute sleep deprivation (ASD) can effect mood, attention, memory, alertness and metabolism.Especially, it is often accompanied by cognitive impairment of the brain.Acupuncture is safe and effective for improving cognitive function, but its underlying mechanism is not fully understood.In this study, an event-related potential (ERP) superdr

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Robotic posterior retroperitoneal adrenalectomy versus laparoscopic posterior retroperitoneal adrenalectomy: outcomes from a pooled analysis

BackgroundThe comparative advantages of robotic posterior retroperitoneal adrenalectomy (RPRA) over laparoscopic posterior retroperitoneal adrenalectomy (LPRA) remain a topic of ongoing debate within the medical community.This systematic literature review and meta-analysis aim to assess the safety and efficacy of RPRA compared to LPRA, with the ult

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mRNA expression levels in failing human hearts predict cellular electrophysiological remodeling: a population-based simulation study.

Differences in mRNA expression levels have been observed in failing versus non-failing human hearts for several membrane channel proteins and accessory subunits.These differences may play a causal role in electrophysiological changes observed in human heart failure and atrial fibrillation, such as action potential (AP) prolongation, increased AP tr

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