Results 171 to 180 of about 292,173 (295)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

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

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn, Kate D'Cruz, Mark Brown, Jacinta Douglas, Dianne Winkler   +4 more
wiley   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

Rationale of New Grading System: Central Compartment Atopic Disease

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna, Carmen Palma‐Martínez, Serafin Sánchez‐Gómez, Isam Alobid, Daniel Martin‐Jimenez, José Miguel Villacampa‐Aubá, Christian Calvo‐Henríquez, Alfonso Del Cuvillo, Alfonso Santamaría‐Gadea, Jaime González‐García, Richard J. Harvey, John M. DelGaudio   +11 more
wiley   +1 more source

Infusions of rocuronium and cisatracurium exert different effects on rat diaphragm function [PDF]

, 2007
DECRAMER, M, GAYAN-RAMIREZ, G, MAES, K, POWERS, SK, TESTELMANS, D, Wouters, Patrick   +5 more
core  

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion, Peta‐Lee Sacks, Lu Hui Png, Ruoxin Hua, Rhea Darbari Kaul, Raquel Alvarado, Christine Choy, Raymond Sacks, Peter Earls, Raewyn G. Campbell, Larry Kalish, Richard J. Harvey   +11 more
wiley   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +6 more
wiley   +1 more source