Results 51 to 60 of about 992,785 (291)

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

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

Carbon savings potential of virtual care in obstructive sleep apnea and otitis media with effusion

Laryngoscope Investigative Otolaryngology
Objective To determine the carbon savings potential of incorporating virtual care into surgical care pathways for pediatric patients with obstructive sleep apnea or otitis media with effusion.
Austin Heffernan, Annie Lalande, Rashmi Chadha, Andrea MacNeill, Neil K. Chadha   +4 more
doaj   +1 more source

Palatine Tonsil Stenting of the Airway as Determined by Drug-Induced Sleep Endoscopy

Case Reports in Otolaryngology, 2018
Objective. To demonstrate lateral pharyngeal wall collapse and increased apnea-hypopnea index in a child posttonsillectomy. Background. Some children have worsening of their sleep symptoms after tonsillectomy for obstructive sleep apnea. This case report
Habib G. Zalzal, Steven Coutras
doaj   +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

Obstructive Sleep Apnea and Cancer

, 2016
Obstructive sleep apnea (OSA) is a common disorder which is associated with increased morbidity and mortality. There is growing evidence that patients with OSA have higher incidence of cancer, accelerated progression and cancer mortality.
Ceyda Erel Kırışoğlu Demir
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

Phenotypic variance in pediatric obstructive sleep apnea

Pediatric Pulmonology, 2021
AbstractIt is crucial that clinicians understand what underpins the considerable phenotypic variance in pediatric obstructive sleep apnea syndrome (OSAS), if they are to implement individually tailored phenotype‐based approaches to diagnosis and management.
Hui‐Leng Tan, Athanasios G. Kaditis
openaire   +3 more sources

Preoperative Evaluation in Obstructive Sleep Apnea Syndrome [PDF]

, 2015
In patients with Obstructive sleep apnea syndrome (OSAS), preoperative evaluation should be routinely done in all patients with OSAS undergoing surgery or in all patients suspected to have OSAS to avoid problems during perioperative (pre-intra-post ...
Oya İtil, Itil, Oya
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source