Articles: function.
-
Restless leg syndrome (Restless legs syndrome, RLS) is a common neurological disorder. The pathogenesis of RLS remains unknown, and recent pathophysiological developments have shown the contribution of various genetic markers, neurotransmitter dysfunction, and iron deficiency to the disease, as well as other unidentified contributing mechanisms, particularly chronic renal dysfunction. RLS enhancement syndrome is frequently observed in patients with RLS who have received long-term dopamine agonist therapy, manifesting as a worsening of RLS symptoms, usually associated with an increase in the dose of dopamine agonist. ⋯ First-line treatment options include iron supplementation for those with evidence of reduced iron stores, or gabapentin or pregabalin, as well as dopamine agonists, such as pramipexole. Second-line therapies include opioids such as tramadol. RLS seriously affects the quality of life of patients, and because its pathogenesis is unclear, more biological evidence and treatment methods need to be explored.
-
The disparity between the demand and supply of organs has necessitated an expansion of the criteria for organ donation. Consequently, numerous guidelines have been proposed for managing brain-dead organ donors (BDODs) to improve their organ function and the organ procurement rate. Therefore, we aimed to evaluate the previously recommended threshold for red blood cell transfusion in BDODs. ⋯ Hemoglobin concentration of 10 g/dL cannot be considered a threshold for red blood cell transfusion. Furthermore, organ function is not correlated with a hemoglobin concentration > 7 g/dL. Restrictive transfusion strategy is appropriate for BDOD management.
-
Bardet-Biedl Syndrome (BBS) is an autosomal recessive systemic disorder characterized by retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal impairments, and hypogonadism. The purpose of this study was to determine the ocular characteristics of a boy with BBS caused by a novel homozygous variant in the ARL6 (alternative named BBS3) gene who had been originally diagnosed with retinitis punctata albescens. ⋯ In children with night blindness and progressive visual dysfunction, it is important for ophthalmologists to consult clinical geneticists and pediatricians to rule out the possibility of systemic diseases such as BBS.
-
The purpose of this study was to compare the effect of robotic thyroid lobectomy via Bilateral Axlio-Breast Approach (BABA) and endoscopic thyroid lobectomy on the voice function. A total of 125 patients with thyroid cancer from March 2021 to July 2022 were divided into the robotic thyroid lobectomy group and the endoscopic thyroid lobectomy group. Acoustic index and voice handicap index (VHI-10) were compared between the 2 groups before and after (1 week, 1 month, 3 month) the surgery. ⋯ One week after surgery, MPT in the endoscopic group was (13.02 ± 9.28) s, which was significantly lower than that (17.55 ± 9.25) s in the robotic groups. There were no significant differences in Shimmer, Jitter, DSI and NHR during all postoperative follow-up periods compared with those before surgery in both groups. The voice function of robotic thyroid lobectomy via BABA is superior to endoscopic thyroid lobectomy.
-
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder. Despite our enormous progress in the strategies used to diagnose, treat, and cure WAS, no bibliometric studies have been performed in this research field. This study explored the trends in WAS research through a bibliometric analysis evaluating relevant literature quantitatively and qualitatively. ⋯ From 2001 to 2021, the United States was a global leader in the WAS research. Collaboration between countries and institutions is expected to deepen and strengthen in the future. Research hotspots included pathogenesis, clinical manifestations, diagnosis, and therapy. Our results suggest a greater understanding of the mechanistic underpinnings of immune dysfunction in WAS patients, the application of targeted therapies for individual complications, and the development of curative approaches, which will remain research hotspots in the future.