Results 51 to 60 of about 89,595 (254)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Gut microbiota and pediatric obesity/non-alcoholic fatty liver disease

Journal of the Formosan Medical Association, 2019
Huge amount microorganisms resides in human intestine, and many contribute to the maturation and homeostasis of immune system. The diversity of gut ecology are affected by the gestational age, delivery type, feeding sources, and antibiotics use in ...
Yao-Jong Yang, Yen-Hsuan Ni
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Parental Roles and Challenges in Managing Pediatric Obesity: Insights from Focus Group Interviews in Korea

Journal of Obesity & Metabolic Syndrome
Background : Pediatric obesity is a global public health concern. South Korea is witnessing a notable increase in obesity rates among children and adolescents, despite various governmental interventions.
Jieun Ju, Jahye Jung, Yong Hee Hong, Minsoo Shin, Yoon Lee, Ah-Ram Sul   +5 more
doaj   +1 more source

A randomized controlled trial comparing intensive non-surgical treatment with bariatric surgery in adolescents aged 13–16 years (AMOS2): Rationale, study design, and patient recruitment

Contemporary Clinical Trials Communications, 2020
Background: Previous non-randomized studies show similar outcomes in adolescents and adults after bariatric surgery. We describe the study protocol, recruitment, and selected baseline data of patients in a randomized multi-center study, the Adolescent ...
Annika Janson, Kajsa Järvholm, Eva Gronowitz, Lovisa Sjögren, Sven Klaesson, My Engström, Markku Peltonen, Kerstin Ekbom, Jovanna Dahlgren, Torsten Olbers   +9 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Testing an adapted obesity prevention intervention in under resourced schools: a pilot clustered randomized controlled trial

Scientific Reports
The purpose of this pilot study was to test an adapted childhood obesity prevention intervention called Preventing Obesity Using Digital-Assisted Movement and Eating (ProudMe) in under-resourced schools. Six schools were cluster-randomized to ProudMe (n =
Yuxin Nie, Qiaoyin Tan, Paul Son, Amanda E. Staiano, Richard R. Rosenkranz, Katherine E. Spring, Mónica Suárez-Reyes, Renee A. Underwood, Jared N. Androzzi, Fahui Wang, Senlin Chen   +10 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +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

Pediatric Obesity's Effect on Open and Laparoscopic Appendectomy Outcomes

The Surgery Journal
Background Pediatric obesity is a common comorbid condition that may complicate pediatric surgeries, such as appendectomy. Prior research on the consequences of obesity on pediatric appendectomy outcomes have been limited by small-sample sizes
Anshul Bhatnagar, Nishtha Nigam, Rohan Anne, Sadashiv Santosh   +3 more
doaj   +1 more source