Results 41 to 50 of about 74,912 (218)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +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

The Influence of a Mandibular Advancement Plate on Polysomnography in Different Grades of Obstructive Sleep Apnea

eJournal of Oral Maxillofacial Research, 2015
Objectives: The purpose of this study was to investigate the effect of a mandibular advancement device on different grades of obstructive sleep apnea using a relatively simple test for the apnea-hypopnea index to determine if a mandibular device will be ...
Antti Raunio, Pauli Mattila, Usko Huuskonen, Kyösti Oikarinen, George K. Sándor   +4 more
doaj   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao, En‐Ying Wang, Ying‐Shuo Hsu, Ming‐Shao Tsai, Cheng‐Jung Wu, Chia‐Hao Chang, Yi‐Li Hwang, Han‐Lo Teng, Jun‐Wei Hsieh, Chien‐Yu Huang   +9 more
wiley   +1 more source

Investigation of Symptoms and Risk Factors of Obstructive Sleep Apnea among Patients with Acute Stroke who were Hospitalized in Alzahra Hospital, Isfahan, Iran, during 2014

مجله دانشکده پزشکی اصفهان, 2016
Background: Obstructive sleep apnea and stroke are the most common diseases worldwide and especially in our country. Previous studies showed that both above diseases are common risk factors and in some of study co-morbidity to stroke and obstructive ...
Mohammadreza Najafi, Sara Hoseinpour
doaj  

Canine brachycephalic obstructive airway syndrome as a model for studying the effects of obstructive sleep apnea during pregnancy

Animal Models and Experimental Medicine, EarlyView.
We observed a negative effect of brachycephalic obstructive airway syndrome (BOAS) in a staggered manner based on the severity of the condition on respiratory and cardiac patterns, glycemia, acid–base balance, fetal growth, and uterine artery hemodynamics, thus requiring adaptations within the fetal–placental unit. Severely affected bitches had uterine
Roberto Rodrigues da Rosa Filho, Thayná Pantoja Gardés, Maíra Morales Brito, Leticia Lima de Almeida, Camila Infantosi Vannucchi   +4 more
wiley   +1 more source

Cardioversion of atrial fibrillation does not affect obstructive sleep apnea

Upsala Journal of Medical Sciences, 2017
Background: Sleep apnea is common in patients with atrial fibrillation, but the effect of the cardioversion of atrial fibrillation to sinus rhythm on central and obstructive apneas is mainly unknown.
Niklas Höglund, Carin Sahlin, Milos Kesek, Steen M. Jensen, Karl A. Franklin   +4 more
doaj   +1 more source

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Ixekizumab With Tirzepatide Achieved Greater Disease Control Than Ixekizumab Alone in Adults With Psoriatic Arthritis and Overweight or Obesity: Results From a Randomized Clinical Trial

Arthritis &Rheumatology, EarlyView.
Objective Overweight or obesity is prevalent in 72% to 82% of individuals with psoriatic arthritis (PsA). We assessed the efficacy and safety of ixekizumab (IXE) concomitantly administered with tirzepatide (TZP) compared with IXE alone in adult participants with active PsA and overweight with at least one weight‐related comorbidity or obesity.
Joseph F. Merola, Philip Mease, Alan Kivitz, Naveed Sattar, Laura C. Coates, Daniel Aletaha, Cynthia E. Kartman, Peter Fischer, Luna Sun, Píndaro Martínez‐Osuna, Andris Kronbergs, Purvi Prajapati, Anabela Cardoso, Mark C. Genovese, Alexis Ogdie   +14 more
wiley   +1 more source

What Is the Pterygomandibular Raphe? A Confluence of Fasciae Rather Than a Discrete Structure

Clinical Anatomy, EarlyView.
ABSTRACT The pterygomandibular raphe (PMR) has traditionally been described as a fibrous or tendinous band connecting the bucinator (BM) and superior pharyngeal constrictor (SPCM) muscles. However, recent evidence has questioned its existence. This study aimed to reevaluate the anatomy of the pterygomandibular region by preserving fascial continuity ...
Joe Iwanaga, Shion Hama, Keiko Fukino, Shogo Kikuta, Mi‐Sun Hur, Maria Cristina Manzanares Cespedes, Yoshio Ohyama, Masaya Akashi, Noritaka Komune, Hideaki Kamochi, Soichiro Ibaragi   +10 more
wiley   +1 more source