Results 111 to 120 of about 760,222 (266)

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

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Occupational motions such as kneeling and squatting are associated with the increased development of medial meniscus posterior root tears, regardless of the medial posterior tibial slope angle

Journal of Experimental Orthopaedics
Purpose The relationship between occupational motions and the medial posterior tibial slope (MPTS) with the development of medial meniscus posterior root tears (MMPRTs) has not been investigated.
Koki Kawada, Yusuke Yokoyama, Masanori Tamura, Yuki Okazaki, Toshifumi Ozaki, Takayuki Furumatsu   +5 more
doaj   +1 more source

The Associations of Sedentary Behaviour and Physical Activity With Musculoskeletal Disorders in Hybrid-Office Workers: A Compositional Data Analysis

Baltic Journal of Sport and Health Sciences
Purpose: The aims of the present study are (1) to examine sedentary behaviour and physical activity patterns in hybrid-office workers in home and office contexts, and (2) to assess the associations of such activity patterns with musculoskeletal symptoms.
Iris Parés-Salomón, Alan Coffey, Bette Loef, Kieran P. Dowd, Eva Cirera Viñolas, Anna M. Señé Mir, Arnau Gustems Morral, Maja Pajek, Karin I. Proper, Anna Puig-Ribera, Judit Bort-Roig   +10 more
doaj   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Frequency of Cardiovascular diseases among Standing and Sitting Occupations

Title: Frequency of Cardiovascular Diseases among Standing and Sitting Occupations Background: Cardiovascular diseases (CVDs) are a leading cause of morbidity and mortality worldwide. Occupational factors, particularly physical activity levels, have been linked to CVD risk. Objective: This study investigates the frequency of CVDs among individuals in
Imran, Momina, Saqib, Layba, Shahid, Amna   +2 more
openaire   +2 more sources

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Application of the Occupational Sitting and Physical Activity Questionnaire (OSPAQ) to office based workers

, 2014
Application of the Occupational Sitting and Physical Activity Questionnaire (OSPAQ) to office based ...
J Jancey (13315590), M Tye (13418274), Sarah McGann (13083927), AH Lee (15820499), K Blackford (13418277)   +4 more
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