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Pathogenic variants in SHROOM3 associated with hemifacial microsomia.
J Hum Genet
January 2025
Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, China.
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, known causal genes account for only approximately 6% of patients, indicating the need to discover more pathogenic genes. Association tests demonstrated an association between common variants in SHROOM3 and HFM (P = 1.
View Article and Find Full Text PDFThe sarcin-ricin loop (SRL) is one of the most conserved segments of ribosomal RNA (rRNA). Translational GTPases (trGTPases), such as EF-G and EF-Tu and IF2, form contacts with the SRL that are critical for GTP hydrolysis and factor function. Previous studies showed that expression of 23S rRNA lacking the SRL confers a dominant lethal phenotype in E.
View Article and Find Full Text PDFMechanism of stable lithium plating and stripping in a metal-interlayer-inserted anode-less solid-state lithium metal battery.
Nat Commun
January 2025
Analytical Engineering Group, Samsung Advanced Institute of Technology, 130 Samsung-ro, Yeongtong-gu, Suwon-si, Gyeonggi-do, Republic of Korea.
To reliably operate anode-less solid-state Li metal batteries, wherein precipitated Li acts as the anode, stabilizing the interface between the solid electrolyte and electrode is crucial. The interface can be controlled by a metal interlayer on the electrolyte to form a Li alloy buffer that facilitates stable Li plating/stripping, thereby mitigating the loss of physical contact and preventing short circuits. However, the mechanism governing stable Li plating/stripping in the metal interlayer without degrading battery materials remains unclear owing to an incomplete understanding of the dynamic and complex electrochemical reactions in the solid state.
View Article and Find Full Text PDFLumbosacral posterior meningocele in adult patient: a case report.
J Surg Case Rep
January 2025
Department of Surgery, University of Baghdad, College of Medicine, Baghdad, Iraq.
Spinal dysraphism is the incomplete fusion of the neural arch, which can be seen as an occult or open neural tube defect. Meningoceles are a form of open neural tube defect characterized by cystic dilatation of the meninges containing cerebrospinal fluid without the involvement of neural tissue. Neurosurgical intervention is necessary in the newborn period since survival in advancing ages is often impossible.
View Article and Find Full Text PDFCritical Care Challenges and Mortality Predictors in Older Adults: A Comprehensive Cohort Analysis.
Cureus
December 2024
Critical Care, Unidade Local de Saúde de Lisboa Ocidental, Lisbon, PRT.
Purpose: As the population ages, critically ill older adults increasingly face complications and require more healthcare resources during hospitalization. Since post-ICU (intensive care unit) mortality is an important consideration, particularly in elderly populations, this study aims to assess whether advanced age impacts ICU and post-ICU mortality by comparing outcomes between patients aged 81 years and above with those below 81 years.
Methods: This retrospective study analyzed data from 3,821 ICU patients treated at the Unidade Local de Saúde de Lisboa Ocidental between 2015 and 2023.
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