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Background: Rapid sequence induction intubation (RSII) is commonly used in emergency surgeries for patients at high risk of aspiration. However, these patients are more susceptible to hypoxemia during the RSII process. High-flow nasal cannula (HFNC) oxygen therapy has emerged as a potential alternative to traditional face mask (FM) ventilation pre- and apneic oxygenation.

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Acrocyanosis is a functional peripheral vascular disorder, currently categorized under the canopy of acrosyndromes, i.e., a group of clinically similar and significantly overlapping vascular disorders involving the acral skin.

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A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.

Hum Mol Genet

January 2025

Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.

Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.

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Background: This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.

Methods: A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing.

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This review emphasises the importance of the cardiovascular response to facial cooling (FC) and breath holding in both sexes. The trigemino-cardiac reflex, triggered by FC, reduces heart rate (HR) and constricts blood vessels. When combined with breath holding, this effect intensifies, enhancing the cardiodepressive impact.

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