Results 61 to 70 of about 103,930 (219)

Epilepsy in fragile X syndrome [PDF]

Developmental Medicine & Child Neurology, 2002
Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of childhood (BFEC, benign rolandic epilepsy). To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 ...
openaire   +3 more sources

Shear Wave Optical Coherence Elastography and Structural Analysis of the Postnatal Mouse Cornea through Development

Journal of Biophotonics, EarlyView.
This paper investigates the geometrical and biomechanical properties of neonatal eyes at the early stages of development. We found that the corneal thickness is uncoupled from elastic wave speed and that the content and organization of the cornea primarily influence its mechanical properties.
Andrew L. Lopez III, Mohammad Dehshiri, Alexander W. Schill, Salavat Aglyamov, Kirill Larin   +4 more
wiley   +1 more source

Finding the GEMSS in Schools. [PDF]

, 2014
Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
core   +1 more source

Metacarpophalangeal pattern profile analysis in fragile X syndrome [PDF]

, 1988
We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X—fra (X), or Martin-Bell—syndrome and calculated a mean syndrome profile.
Butler, M. G, Carpenter, N. J., Fagan, J., Fletcher, M., Gale, D. D., McLeod, D. R., Meaney, F. J., Opitz, J. M., Reynolds, J. F.   +8 more
core   +1 more source

A longitudinal study of psychological distress during and after COVID‐19 restrictions in caregivers of children with intellectual disability in the UK

JCPP Advances, EarlyView.
Abstract Introduction The current study explored longitudinally whether child behaviours that challenge and caregiver coping strategies was associated with psychological distress in caregivers of children with and without intellectual disability during and after lockdown.
Karri Gillespie‐Smith, Karen Goodall, Doug McConachie, Jo Van Herwegen, Hayley Crawford, Carrie Ballantyne, Caroline Richards, Thomas Gallagher‐Mitchell, Joanna Moss, Grace Khawam, Laura Outhwaite, Emily Marriott, Freyja Steindorsdottir, Hope Christie   +13 more
wiley   +1 more source

Anemia, Abnormal Body Mass Index, and Sarcopenia Increase Complication Risk in Patients Undergoing Surgical Treatment for Metastatic Bone Disease

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background and Objectives Metastatic bone disease (MBD) is a common complication of primary cancers and is typically managed surgically. Overall health status and nutritional optimization are essential in surgical outcomes. The objective of this study was to report the intersectionality of previously studied laboratory, imaging, and clinical ...
Joseph Ippolito, Ashley Castan, Rosamaria Dias, Yazan Kadkoy, Katie Gotoff, Jennifer Thomson, Kathleen Beebe, Joseph Benevenia   +7 more
wiley   +1 more source

Fragile X mental retardation protein controls ion channel expression and activity [PDF]

, 2016
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP).
Ferron, L
core   +1 more source

Construction and Validation of a Risk Prediction Model for Early Severe Intraventricular Hemorrhage in Very Low Birth Weight Infants

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT In the past several years, prediction models for severe intraventricular hemorrhage (IVH) in premature infants have emerged. However, few models have considered the importance of predictors related to the clinical course and hemostatic profile in predicting the risk of hemorrhage, such as the FiO2, hematocrit, and platelet count.
Fei Shen, Jie Xu, Hui Rong, Jing Zhang, Yang Yang, Xian‐Wen Li   +5 more
wiley   +1 more source

Breaking Boundaries: Chronic Diseases and the Frontiers of Immune Microenvironments

Med Research, EarlyView.
ABSTRACT The immune microenvironment includes immune cells, cytokines, extracellular matrix, vesicles, etc. The interactions between these components form a unique local immune microecology. Although immunity serves as the defense against external pathogens, aberrant immune activation often contributes to disease development.
Guoqing Li, Yuxuan Wan, Alan Jiao, Ke Jiang, Gaoyuan Cui, Jinxin Tang, Simin Yu, Zhengang Hu, Songfeng Zhao, Zhenjie Yi, Lifu Long, Yang Yang, Xuehao Cui, Chunrun Qu   +13 more
wiley   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source