Results 51 to 60 of about 1,173,672 (312)

EVIDENCE FOR "UNER TAN SYNDROME" AS A HUMAN MODEL FOR REVERSE EVOLUTION [PDF]

, 2006
“Uner Tan Syndrome” was further studied in a second family. There was no cerebellar atrophy, except a mild vermial atrophy in MRI scans of the affected individuals. This is not, however, the pathogenesis of the “Uner Tan Syndrome”, since in the first and
Tan, Prof. Dr. Uner
core   +1 more source

Inhibitory Decay and Supercritical Brain Dynamics During Sleep Deprivation

Advanced Science, EarlyView.
Sleep deprivation progressively shifts human brain dynamics from near‐critical toward supercritical states, as revealed by neuronal avalanche analysis of resting‐state fMRI. These changes track subjective sleep pressure rather than vigilance lapses and show marked network heterogeneity. A circuit model suggests that reduced inhibitory efficacy provides
Dai Zhang, Liqin Zhou, Rong Wang, Yuehua Han, Zhentao Zuo, Yanghua Tian, Ke Zhou   +6 more
wiley   +1 more source

Health literacy based on the Health Promotion Model to improve maternal behaviors in preventing the risk of stunting in children

Healthcare in Low-resource Settings
Health literacy is a key component of health promotion aimed at modifying lifestyle behaviors and increasing awareness of how health determinants influence quality of life (QOL).
Emmy Putri Wahyuni, Nyimas Heny Purwati, Anita Apriliawati   +2 more
doaj   +1 more source

Cortical Hypometabolism in West’s Syndrome

Pediatric Neurology Briefs, 1994
The association between changes on serial PET studies and the clinical course of 12 patients with newly diagnosed West’s syndrome is reported from the Departments of Pediatrics and Radiology, Nagoya University School of Medicine, Nagoya, Japan.
J Gordon Millichap
doaj   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Oyun ve Fiziki Etkinlikler Dersinin Çocuklarda Seçilmiş Motorik Özellikler Üzerine Etkisi

Spor Bilimleri Araştırmaları Dergisi, 2017
Bu çalışmada, oyun ve fiziki etkinlikler dersinin çocuklarda seçilmişmotorik özellikler üzerine etkisinin incelenmesi amaçlanmıştır. Çalışmaya,Kocaeli ilinde bulunan Özel Eğitim Kurumunun ilköğretim birinci kademesindeokuyan 9-10 yaşlarında olan n=149 ...
Ece Ongül, OZAN Yılmaz, Betül Bayazıt, Musafa Güler   +3 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Penilaian Kemampuan Kognitif dan Psikomotor Perawat Panti Werdha dalam Penilaian Inkontinensia Urin pada Lansia di Panti Surya Surabaya

Critical Medical and Surgical Nursing Journal, 2019
Introduction: Basic assessment in elderly with urinary or bladder dysfunction need holistically and comprehensive approach. A nurse should be given special training to assess and manage urinary incontinence, because it's complexity especially in elderly.
Abigael Grace Prasetiani, Ika Yuni Widyawati, Sukma Randani Ismono   +2 more
doaj   +1 more source

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

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source