Results 151 to 160 of about 53,280 (283)

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Long‐Term Results of UPPP and Coblation Channeling of the Tongue for Obstructive Sleep Apnea

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To evaluate the long‐term surgical outcomes of combined uvulopalatopharyngoplasty (UPPP) and coblation channeling of the tongue (CCT) for moderate‐to‐severe obstructive sleep apnea (OSA). Methods The study enrolled patients with moderate‐to‐severe OSA who underwent treatment with UPPP plus CCT and had a minimal follow‐up of 2 years ...
Ren‐Hui Chen, Qian Cai, Wei‐Qi Chen, Xiao‐Ming Huang   +3 more
wiley   +1 more source

Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. [PDF]

, 2007
D'ARMIENTO, MARIA, Leone F, MARTINELLI, PASQUALE, Maruotti GM, PALADINI, DARIO, Penner I, Sglavo G   +6 more
core   +1 more source

Chinese Guidelines for the Diagnosis and Surgical Treatment of Adult Obstructive Sleep Apnea (2024)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Obstructive sleep apnea (OSA) is a common chronic disorder characterized by abnormal breathing during sleeping. OSA can damage various organs throughout the body and is burdensome, both socially and economically. Moreover, as OSA has been increasingly studied in recent years, new evidence‐based guidelines for its diagnosis and surgical ...
Working Group of Guideline for the Diagnosis and Surgical Treatment of Adult OSA, Subspecialty Group of Laryngopharyngology, Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association, Subspecialty Group of Voice, Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association, Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery   +7 more
wiley   +1 more source

Hox Gene Variation Drives Morphological Specialization of Humpback Grouper Cromileptes altivelis

Integrative Zoology, EarlyView.
Cromileptes altivelis exhibits a distinctive “sunken head and humpback” morphology, formed through cranial remodeling. Genetic analyses identified unique amino acid variants in Hoxa7a and Hoxa10b, with functional tests confirming their role in enhancing osteoblast activity and driving cranial remodeling.
Xiaoying Cao, Zhaowei Zhong, Lisheng Wu, Quanyin Liu, Shaoxiong Ding   +4 more
wiley   +1 more source

Comparative Evaluation of Sella Turcica Morphology and Dimensions in Skeletal Class III Malocclusion and Cleft Lip and Palate Patients Versus Class I Individuals. [PDF]

Clin Exp Dent Res
ABSTRACT Objectives To compare the morphology and dimensions of the sella turcica in skeletal Class III malocclusion and cleft lip and palate (CLP) with Class I. Material and Methods This comparative cross‐sectional study was conducted at the Armed Forces Institute of Dentistry, Rawalpindi, Pakistan, and involved 540 cases (Class I, Class III ...
Gul B, Amin E, Hussain U, Malik F, Faiza R, Alqarni SS, Naseem W.   +6 more
europepmc   +2 more sources

Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies

Clinical Endocrinology, EarlyView.
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders. [PDF]

Ital J Pediatr
Wu D, Chen R, Zhang J, Yan W, Chen M, Xia D, Li X, Dai Y, Chen Y, Li R.   +9 more
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source