Results 41 to 50 of about 5,948 (186)

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

Lesch-nyhan syndrome in an Indian child

Indian Journal of Dermatology, 2015
Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation.
Priyanka Chandekar, Bhushan Madke, Sumit Kar, Nidhi Yadav   +3 more
doaj   +1 more source

CT, US and MRI of xanthine urinary stones: in-vitro and in-vivo analyses

BMC Urology, 2020
Background Xanthine urinary stones are a rare entity that may occur in patients with Lesch–Nyhan syndrome receiving allopurinol. There is little literature describing imaging characteristics of these stones, and the most appropriate approach to imaging ...
Stephanie B. Shamir, Qi Peng, Alan H. Schoenfeld, Beth A. Drzewiecki, Mark C. Liszewski   +4 more
doaj   +1 more source

Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4

Indian Journal of Paediatric Dermatology, 2022
Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male
Prateek Pathak, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra   +3 more
doaj   +1 more source

Objective, computerized video-based rating of blepharospasm severity [PDF]

, 2016
OBJECTIVE: To compare clinical rating scales of blepharospasm severity with involuntary eye closures measured automatically from patient videos with contemporary facial expression software.
Bartlett, MS, Hallett, M, Jinnah, HA, Littlewort, GC, Macerollo, A, Perlmutter, JS, Peterson, DA, Sejnowski, TJ   +7 more
core   +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

A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. [PDF]

, 2008
BackgroundActivated factor X (FXa) is a vitamin K-dependent serine protease that plays a pivotal role in blood coagulation by converting prothrombin to thrombin. There are no reports of humans with complete deficiency of FX, and knockout of murine F10 is
Arruda, VR, Chu, K, Golden, JA, Herzog, RW, High, KA, Labosky, PA, Margaritis, P, Tai, SJ   +7 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

Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients [PDF]

, 2015
How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. Iran J Child Neurol.
BOROUJERDI, Razieh, NADDAFNIA, Hosein, REZAEI*, Hojatolah, SHARIATI, Mohsen   +3 more
core   +3 more sources

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