Results 81 to 90 of about 2,169,385 (260)

Association between cMIND diet adherence and frailty among Chinese older adults: A 10-year longitudinal study

The Journal of Nutrition, Health and Aging
Background: Both cognitive impairment and diet are significant factors associated with frailty, however, the association between the Chinese Mediterranean-DASH Intervention for Neurodegenerative Delay (cMIND) diet and frailty remains unclear.
Lin Yang, Mengying Li, Jing Shu, Lizheng Cao   +3 more
doaj   +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

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Pediatric densitometry: is the Z score adjustment necessary in all cases?

Frontiers in Endocrinology
BackgroundThe International Society for Clinical Densitometry recommends adjusting the bone mineral density (BMD) Z-score in children with short stature or growth delay. However, it is not clear whether height-for-age Z-score (HAZ) adjustment is required
Berta Magallares, Berta Magallares, Berta Magallares, Berta Magallares, Jorge Malouf, Helena Codes-Méndez, Helena Codes-Méndez, Hye Sang Park, Hye Sang Park, Hye Sang Park, Jocelyn Betancourt, Jocelyn Betancourt, Gloria Fraga, Gloria Fraga, Estefanía Quesada-Masachs, Estefanía Quesada-Masachs, Mireia López-Corbeto, Montserrat Torrent, Ana Marín, Silvia Herrera, Silvia Herrera, Ignasi Gich, Ignasi Gich, Ignasi Gich, Susana Boronat, Susana Boronat, Jordi Casademont, Jordi Casademont, Jordi Casademont, Hector Corominas, Hector Corominas, Hector Corominas, Dacia Cerdá   +32 more
doaj   +1 more source

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

Electronic Health Records to Test Multimorbidity Influences to Plasma Biomarker Interpretation for Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Plasma biomarkers of Alzheimer's disease (AD) pathology are frequently tested in specialized research settings, which limits the generalizability of findings. Using electronic health records and banked plasma, we evaluated plasma biomarkers—phosphorylated tau 217 (p‐tau217), β‐amyloid 1–42/1–40 (Aβ42/Aβ40) and p‐tau217/Aβ42—in a real‐world ...
Katheryn A.Q. Cousins, Rory Boyle, Colleen Morse, Anurag Verma, Christopher A. Brown, Kyra S. O'Brien, Marina Serper, Nadia Dehghani, Penn Medicine BioBank, Corey T. McMillan, Edward B. Lee, Leslie M. Shaw, David A. Wolk   +12 more
wiley   +1 more source

Adherence to the Mediterranean and Mediterranean‐Dietary Approaches to Stop Hypertension Intervention for Neurodegenerative Delay (MIND) Diets and Parkinson's Disease Incidence in Women: Results from the Prospective E3N Cohort

Annals of Neurology, EarlyView.
Objective The evidence regarding adherence to dietary patterns and Parkinson's disease (PD) risk is inconsistent. Because of the long prodromal PD phase, reverse causation represents a major threat to investigations of diet in relation to PD. We examined whether adherence to the Mediterranean (MED) and Mediterranean‐Dietary Approaches to Stop ...
Mariem Hajji‐Louati, Emmanuelle Correia, Pei‐Chen Lee, Fanny Artaud, Emmanuel Roze, Francesca Romana Mancini, Alexis Elbaz   +6 more
wiley   +1 more source