Results 31 to 40 of about 2,549 (165)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

A retrospective observational study to determine baseline characteristics and early prescribing patterns for patients receiving Alirocumab in UK clinical practice [PDF]

, 2019
Background Alirocumab is a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9) and has been previously shown, in the phase III ODYSSEY clinical trial program, to provide significant lowering of lowdensity lipoprotein
BG Nordestgaard, C Baigent, CP Cannon, EM Roth, GG Schwartz, J Armitage, JC Defesche, JJ Kastelein, M Kohli, M Weinreich, ML Hartgers, MS Sabatine, S Glerup   +12 more
core   +4 more sources

Shared Versus Unique Features of Neural Activation During Cognitive Flexibility Across Restrictive Eating Disorder Presentations

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Restrictive eating disorders (EDs), including anorexia nervosa (AN) and atypical AN (Atyp‐AN), are often associated with cognitive rigidity that can impede treatment. The dorsolateral prefrontal cortex (dlPFC) plays a central role in cognitive control, but it remains unclear whether its activation during cognitive flexibility will ...
Adrienne L. Romer, Lauren Breithaupt, Meghan Slattery, Felicia Petterway, Lauren Lindman, Jason Scott, Meghan Lauze, Mia Cravitz, Zara Poon, Siddarth Seenivasa, Sarah Naticchia, Kristin N. Javaras, David Alperovitz, Jennifer J. Thomas, Elizabeth A. Lawson, Diego A. Pizzagalli, Franziska Plessow, Poornima Kumar, Madhusmita Misra, Kamryn T. Eddy   +19 more
wiley   +1 more source

Asymptomatic Severe Vagal and Sympathetic Cardiac Denervation in Holmes-Adie’s Syndrome

Case Reports in Neurological Medicine, 2017
A 40-year-old woman was found to have bilateral Adie’s pupils and generalized muscle stretch areflexia. She did not have orthostatic hypotension but, in an ECG strip in the office, she appeared to have an almost fixed heart rate.
B. Estañol, R. C. Callejas-Rojas, S. Cortés, R. Martínez-Memije, O. Infante-Vázquez, G. Delgado-García   +5 more
doaj   +1 more source

Network based integrated analysis of phenotype-genotype data for prioritization of candidate symptom genes [PDF]

, 2014
YesSymptoms and signs (symptoms in brief) are the essential clinical manifestations for individualized diagnosis and treatment in traditional Chinese medicine (TCM).
Hu, J., Jia, C., Li, X., Liu, B., Peng, Yonghong, Sun, C., Yu, J., Zhang, R., Zhou, X.   +8 more
core   +3 more sources

Multimodal approach to characterize surgically removed epileptogenic zone from patients with focal drug‐resistant epilepsy: From operating room to wet lab

Epilepsia Open, EarlyView.
Abstract Objective We have established a comprehensive sample handling protocol designed for the multiscale assessment of epileptogenic tissue. This protocol aims to identify novel therapeutic targets and enhance the diagnosis and stratification of patients with drug‐resistant epilepsy, thereby optimizing their treatment with anti‐seizure medications ...
Jenni Kyyriäinen, Adriana Della Pietra, Mastaneh Torkamani‐Azar, Mireia Gómez‐Budia, Polina Abushik, Nataliia Novosolova, Henri Eronen, Omar Narvaez, Ekaterina Paasonen, Vera Lezhneva, Anssi Pelkonen, Liudmila Saveleva, Antti Huotarinen, Ilya Belevich, Eija Jokitalo, Kuopio Epilepsy Center Epilepsy Surgery Group, Leena Jutila, Tuomas Rauramaa, Arto Immonen, Ville Leinonen, Jussi Tohka, Olli Gröhn, Reetta Kälviäinen, Tarja Malm, Alejandra Sierra   +24 more
wiley   +1 more source

Management of Adie Syndrome

Optometry and Vision Science, 1981
In most instances the patient with pupillotonia presents with under accommodation in the affected eye. An unusual case of Adie's pupil with ciliary spasm is discussed. As a result of the unpredictable accommodative response, the necessity of evaluating and prescribing for binocular balance is underscored.
K, Horkovičová, I, Popov, J, Valašková   +2 more
  +7 more sources

Inference of gene-phenotype associations via protein-protein interaction and orthology [PDF]

, 2013
published_or_final_versio
Lai, WF, Li, J, Lovell-Badge, R, Wang, JJ, Wang, P, Xu, F, Yalamanchili, HK   +6 more
core   +3 more sources

Mesoscale Circulation and Coral Community Disturbance at Isolated Reefs

Global Change Biology Communications, EarlyView.
The Loop Current is a seasonally and interannually dynamic mesoscale oceanographic feature in the Gulf of Mexico that strongly influences connectivity and environmental conditions across the region. We investigated the influence of Loop Current variability on coral reef disturbances at isolated reefs in the northwest Gulf, including coral disease ...
Gaby E. Carpenter, Benjamin H. Farmer, Hannah E. Craft, Amy Apprill, Marilyn E. Brandt, Adrienne M. S. Correa, Laura D. Mydlarz, Daniel M. Holstein   +7 more
wiley   +1 more source

The Feasibility and Practical Utility of Virtual Visits for Patients with Parkinson's Disease in Different World Regions

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Overcoming existing access barriers is crucial for better‐specialized health care of patients with Parkinson's disease (PD). Objective The aim of the study was to compare the access and visit quality/acceptability between in‐office and virtual telemedicine visits.
Álvaro García‐Bustillo, Jinyoung Youn, Jong Hyeon Ahn, Oluwadamilola Ojo, Njideka Okubadejo, Zakiyah Aldaajani, Mohamed Essam, Ali Shalash, Adriana Cardozo, Meredith Spindler, Zoltan Mari, Esther Cubo   +11 more
wiley   +1 more source