Results 131 to 140 of about 22,109 (264)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Faecal calprotectin levels in Clostridium difficile infection (CDI) cases versus Antibiotic-associated diarrhoea (AAD) controls.

, 2014
CDI: Clostridium difficile infection; AAD: Antibiotic-associated diarrhoea; n: number; IQR: Interquartile range; Min.: Minimum; Max.: Maximum; OR: Odds ratios; CI: Confidence interval; N/A: Not applicable.*P-value was calculated using binary logistic ...
Margaret Little (623703), Paul Roberts (208537), Munir Pirmohamed (40546), Fabio Miyajima (208536), Mike B. J. Beadsworth (623704), Andrew Swale (208539), Ruwanthi Kolamunnage-Dona (623706), Chris M. Parry (304425), Amanda Hall (210816), Nick J. Beeching (623705)   +9 more
core   +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

A Queuing Envelope Model for Estimating Latency Guarantees in Deterministic Networking Scenarios

Accurate estimation of queuing delays is crucial for designing and optimizing communication networks, particularly in the context of Deterministic Networking (DetNet) scenarios.
Koneva, Nataliia, Hernández, José Alberto, de Dios, Óscar González, Sánchez-Macián, Alfonso, Arpanaei, Farhad   +4 more
core  

Intelligence assessment in high-risk babies considerations about the emotional attitude of the child and the mother [PDF]

, 2018
El objetivo de la investigación fue evaluar el desarrollo cognitivo en bebés de alto riesgo y conocer si la actitud emocional durante la evaluación, tanto de parte de la madre como del bebé, podría influir en el rendimiento cognitivo.
Hauser, Maria Paulina
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Understanding Inequality Within a Personalised System of Disability Support: Australian Children With Disabilities' Unmet Support Needs

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disability support has shifted towards models of personalised care, which critics argue may contribute to increased inequalities. There is limited systematic evidence investigating inequalities in support among children with disabilities. To investigate inequalities in support, a survey of parents of children with disabilities aged 2–17 was ...
Martin O'Flaherty, Jessica Hill, Jennifer Smith‐Merry   +2 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Establishment of Reference Ranges and Profile of Urinary Organic Acids in Different Pediatric Age Groups of the Iranian Healthy Population

مجله دانشکده پزشکی اصفهان, 2014
Background: Organic acidurias are a heterogenous group of inherited metabolic disorders characterized by the accumulation and urinary excretion of organic acids.
Azam Dadkhah, Mahin Hashemipour, Afshin Fassihi, Bahara Barati, Morteza Pourfarzam   +4 more
doaj  

Fine Particulate Matter Constituents, Ozone, and Systemic Lupus Erythematosus: A Large General‐Population Cohort Analysis With Extended Quantile g‐Computation

Arthritis &Rheumatology, EarlyView.
Objective The aim of this study was to investigate whether exposure to mixture of individual fine particulate matter (PM2.5) chemical constituents is associated with incident systemic lupus erythematosus (SLE) and if ozone modifies this association and/or is associated with SLE onset.
Naizhuo Zhao, Sasha Bernatsky, Sharon Dowell, Brittany Banbury, Jeffrey R. Curtis, Grace C. Wright, Emily E. Holladay, Amy Mudano, Cristiano S. Moura, Gail S. Kerr   +9 more
wiley   +1 more source