Results 51 to 60 of about 636,420 (265)

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

Advanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin, Yangchang Zhang, Yang Pu, Duanke Liu, Tao Lei, Kai Ma, Qiyu He, Zheng Dou, Yuze Liu, Dengyuan Liu, Yinge He, Yanshang Wang, Xiaojiao Zheng, Yanbing Ma, Jianrong Zhou, Weiding Zhai, Binbin Su, Li Chen, Shoujun Li   +18 more
wiley   +1 more source

Chronic insomnia remitting after maxillomandibular advancement for mild obstructive sleep apnea: a case series

Journal of Medical Case Reports, 2019
Background Chronic insomnia and obstructive sleep apnea are both common sleep disorders. Chronic insomnia is thought to result from stress-related physiologic hyperarousal (somatic arousal) that makes it difficult for an individual to fall or stay asleep.
Michael Proothi, Victor J. R. Grazina, Avram R. Gold   +2 more
doaj   +1 more source

Respiratory sleep disorders, nasal obstruction and enuresis in children with non-syndromic Pierre Robin sequence

Brazilian Journal of Otorhinolaryngology, 2022
Introduction: Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis ...
Fábio Luiz Banhara, Inge Elly Kiemle Trindade, Ivy Kiemle Trindade-Suedam, Marilyse de Bragança Lopes Fernandes, Sergio Henrique Kiemle Trindade   +4 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Body position and obstructive sleep apnea in children

, 2002
Study Objectives: In adults, sleep apnea is worse when the patient is in the supine position. However, the relationship between sleep position and obstructive apnea in children is unknown.
Li, Xianbin B. [UNIFESP], Xianbin Li, Lucila B. Fernandes do Prado, Prado, Lucila Bizari Fernandes do [UNIFESP], Richard Thompson, Marcus, Carole L., Carole L. Marcus, Thompson, Richard   +7 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Ambient temperature and obstructive sleep apnea : effects on sleep, sleep apnea and morning alertness

, 2012
Study Objectives: The aim of the study was to investigate the effect of ambient temperature on sleep, sleep apnea, and morning alertness in patients with obstructive sleep apnea. Design: Randomized controlled trial.
Stenlund, Hans,, Sahlin, Carin,, Franklin, Karl A,, Valham, Fredrik,   +3 more
core   +1 more source

Improvement in obstructive sleep apnea in a child with Down syndrome with rapid palatal expansion

, 2022
Children with Down syndrome (DS) have distinct orofacial structures that predispose them to sleep-disordered breathing. The management options for obstructive sleep apnea include continuous positive airway pressure, adenotonsillectomy, mandibular ...
최은경, 최윤정, 조형주, Eun Kyoung Choi, Yoon Jeong Choi, Ahhyeon Kim, Hyung-Ju Cho   +6 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source