Results 51 to 60 of about 11,007 (197)

Disease Management and Liability in the Human Genome Era [PDF]

, 2002
The completion of a rough draft of the Human Genome presents both tremendous potential for improvements in health care delivery and challenges to providing appropriate incentives that will bring forth new treatments while protecting individuals and ...
Palmer, Larry I.
core   +2 more sources

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

Influence of Atrioventricular Nodal Reentrant Tachycardia Ablation on Right to Left Inter-atrial Conduction [PDF]

, 2005
Background: Radiofrequency (RF) catheter ablation is the procedure of choice for the potential cure of atrioventricular nodal reentrant tachycardia (AVNRT) with high success rates.
Eksik, Abdurrahman, Akyol, Ahmet, Norgaz, Tugrul, Erdinler, Izzet   +3 more
core  

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

A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report

Journal of Pediatric Research
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal   +7 more
doaj   +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

Canavan disease [PDF]

, 2020
Dena Matalon, Kimberlee Michals Matalon, Reuben Matalon   +2 more
  +6 more sources

Canavan Disease: Three case report

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia.
Faruk Incecik, Efsun Gargun Sizmaz, M. Ozlem Herguner, Sakir Altunbasak   +3 more
doaj  

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