Results 41 to 50 of about 4,773 (143)

EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME

Вопросы современной педиатрии, 2014
A rare clinical case of stomatological maintenance of 11-year old boy with Lesch-Nyhan syndrome (primary x-linked hyperuricemia) is demonstrated in the article. In order to decrease trauma risk of oral cavity organs and soft tissues (due to autoagression)
N. V. Tarasova, V. G. Galonskii
doaj   +1 more source

EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]

, 2018
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core   +1 more source

Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People

Bioethics, EarlyView.
ABSTRACT Genome editing in human embryos could raise new ethical issues by changing future people's narrative and numerical identity. Most philosophers agree that some genetic modifications would have larger effects on identity than others, but they disagree on what criteria might explain these differences and have not supported their claims ...
Derek So, Yann Joly, Robert Sladek
wiley   +1 more source

Discovering functionally important sites in proteins

Nature Communications, 2023
Proteins play important roles in biology, biotechnology and pharmacology, and missense variants are a common cause of disease. Discovering functionally important sites in proteins is a central but difficult problem because of the lack of large ...
Matteo Cagiada, Sandro Bottaro, Søren Lindemose, Signe M. Schenstrøm, Amelie Stein, Rasmus Hartmann-Petersen, Kresten Lindorff-Larsen   +6 more
doaj   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Habitual biting of a finger in a child

Indian Journal of Paediatric Dermatology, 2017
A 3-year-old male child was brought by his parents with a nonhealing ulcer on the right middle finger having no significant history except for an injury sustained to the right elbow in December 2013. On further probing, the mother revealed that the child
K N Sarveswari, M Riswana Jasmine, N Mahesh   +2 more
doaj   +1 more source

Current status of drug screening and disease modelling in human pluripotent stem cells [PDF]

, 2012
The emphasis in human pluripotent stem cell (hPSC) technologies has shifted from cell therapy to in vitro disease modelling and drug screening. This review examines why this shift has occurred, and how current technological limitations might be overcome ...
Crutchley, James, Denning, Chris, George, Vinoj, Kalra, Spandan, Matsa, Elena, Patel, Asha, Rajamohan, Divya   +6 more
core   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

PAK1 inhibitor NVS‐PAK1‐1 preserves dendritic spines in amyloid/tau exposed neurons and 5xFAD mice

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Synaptic spine loss in Alzheimer's disease (AD) contributes to cognitive decline. p21‐activated kinase 1 (PAK1), a regulator of spine integrity, is aberrantly activated in AD. We investigated whether PAK1 inhibition might preserve dendritic spines in vitro and in vivo.
Tao Yang, Hasi Huhe, Sean‐Paul Williams, Sukhneet Kaur, Yeonglong Albert Ay, Zachary W. Davis‐Gilbert, Gregory A. Cary, Carolyn Paisie, Robert R. Butler III, Jesse Wiley, Ranjita Betarbet, Haian Fu, Duc Duong, Nicholas T. Seyfried, Karina Leal, Gregory W. Carter, Aled Edwards, Allan I. Levey, Jacob L. Capener, David H. Drewry, Mohammad A. Hossain, Hans J. Oh, Alison D. Axtman, Stacey J. Sukoff Rizzo, Frank M. Longo, The Emory‐Sage‐SGC‐Jax TREAT‐AD Center   +25 more
wiley   +1 more source

A Comprehensive Review of Probiotics in Alleviating Hyperuricemia: Mechanisms, Strain Engineering, and Food Applications

Food Bioengineering, Volume 4, Issue 4, Page 546-563, December 2025.
Screening and modification of probiotics that can efficiently reduce uric acid provide a new strategy for food‐grade hyperuricemia intervention. ABSTRACT Hyperuricemia has become one of the most prevalent global epidemics, significantly impacting both the economy and the health of individuals.
Le Wang, Qi Wu, Mengjia Zhang, Zifu Ni, Pengshuai Zhang, Siyuan Bai, Yibin Wang, Zhongke Sun   +7 more
wiley   +1 more source