Results 51 to 60 of about 2,664 (184)

Incidental pathologies on magnetic resonanceimaging in delayed milestones pediatric patients.

International Journal of Endorsing Health Science Research, 2021
Background:Delayed in achieving milestones is a rare but still devastating effect with a vast amount of etiologies resides in it. At least 89% of patients with development delay showed additional clinical features.
Ghazala Shahzad, Aashfa Hasan Shaikh, Vashdev Khimani, Peer Asad Aziz, ZeeshanNasir, Pir Abdul Ahad   +5 more
doaj   +1 more source

Reshaping study design for faster extrapolation‐based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN–NASPGHAN position paper

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 3, Page 867-894, March 2026.
Abstract Children with inflammatory bowel diseases (IBD) have limited access to the available advanced therapies, given the lengthy gap between adult and pediatric approval. We aimed to review key hurdles for pediatric trials and recommend practical solutions.
Dan Turner, Amit Assa, Mikkel Malham, Shira Yuval Bar‐Asher, Carla Rayan, Jeffrey S. Hyams, Holm H. Uhlig, Brad Pasternak, David C. Wilson, Hilary K. Michel, Lissy de Ridder, Eric Zuckerman, Marina Aloi, Peter Szitanyi, Marla C. Dubinsky, Anne M. Griffiths, Roberto Saldana, Javier Martín‐de‐Carpi, Eytan Wine, Richard K. Russell, Jeremy Adler, Joseph Picoraro   +21 more
wiley   +1 more source

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

, 2011
Unmasking a recessive allele on one chromosome by a deletion on the other is a disease causing mechanism often invoked but rarely proven. We report on an Italian female patient with Canavan disease (OMIM# 271900) due to a missense mutation of the ...
Amorini, Angela Maria, Tavazzi, Barbara
core   +2 more sources

Leveraging the Positive Deviance Approach to Drive Behavior Change in Noncommunicable Diseases: A Scoping Review

Public Health Challenges, Volume 5, Issue 1, March 2026.
Positive deviants are individuals or groups who demonstrate unexpectedly positive outcomes in contexts where negative outcomes are the norm. In this study, positive deviants exhibited health‐promoting behaviors related to NCD risk factors. The use of these strategies led to positive health outcomes, which merit further exploration and integration into ...
Oumnia Bouaddi, Imad El badisy, Hafida Charaka, Houda E. L. Kirat, Mouna Boucham, Majdouline Obtel, Asmae Khattabi, Kenza Hassouni, Lahcen Belyamani, Mohamed Khalis   +9 more
wiley   +1 more source

Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse

Neurobiology of Disease, 2005
Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD.
Sankar Surendran, Gerald A. Campbell, Stephen K. Tyring, Reuben Matalon   +3 more
doaj   +1 more source

Mycoplasma pneumoniae‐Induced Rash and Mucositis: Clinicopathologic Characterization of 11 Cases

Journal of Cutaneous Pathology, Volume 53, Issue 3, Page 276-283, March 2026.
ABSTRACT Background Mycoplasma pneumoniae ‐induced rash and mucositis (MIRM) is a mucocutaneous eruption affecting children and young adults with respiratory tract or clinically occult infection by M. pneumoniae . Mucosal involvement is often robust and may raise concern for Stevens–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). Histopathologic
Margaret Lang Houser, Jennifer B. Mancuso, Johann E. Gudjonsson, Alexandra C. Hristov, Lori Lowe, May P. Chan   +5 more
wiley   +1 more source

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

The Association Between Irritable Bowel Syndrome and Generalized Anxiety Disorder and Influencing Factors: A Mediation Mendelian Randomization Study

Food Science &Nutrition, Volume 14, Issue 2, February 2026.
Based on Mendelian randomization analysis, this study established a significant causal effect of irritable bowel syndrome (IBS) on increasing generalized anxiety disorder (GAD) risk (odds ratio = 1.328; p < 0.001) and identified dozens of gut microbial taxa, plasma metabolites, inflammatory factors, and immune cell characteristics with potential causal
Weili Yang, Yongxi Wang, Shasha Wang, Hongbing Zhai, Jun Che, Xin Wang, Yafeng Yang, Zebo Jia   +7 more
wiley   +1 more source

Advancing Sustainable Tourism in Svalbard by Assessing and Prioritizing Sustainable Development Goals (SDGs)

Sustainable Development, Volume 34, Issue 1, Page 873-903, February 2026.
ABSTRACT Tourism is a significant sector on the Svalbard archipelago. The increase in visitors and tourism activities has reshaped the local community of Longyearbyen, brought new economic opportunities, and put greater pressure on the local environment.
Julien Lebel, Anna G. Sveinsdóttir, Bjørn P. Kaltenborn, Grete K. Hovelsrud   +3 more
wiley   +1 more source

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

, 2002
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority
De Gaspari, R., R. De Gasperi, Raghavan, S., Ong, E., Zeng, B. J., Pastores, G. M., E. Ong, L. A. Ribeiro, E. H. Kolodny, Leone, P., Kim, S. J., G. M. Pastores, S. J. Kim, B. J. Zeng, Ribeiro, L. A., S. Raghavan, Kolodny, E. H., P. Leone, Wang, Z. H., Z. H. Wang   +19 more
core   +1 more source