Results 61 to 70 of about 9,332,063 (205)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
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

Menkes Disease with ‘Ragged Red’ Fibers

Pediatric Neurology Briefs, 1989
Subsarcolemmal aggregates of mitochondria (‘ragged red’ fibers) in skeletal muscle were found at autopsy in a 30-month-old male infant with Menkes kinky-hair disease reported from the New York Hospital-Cornell University Medical Center, New York.
J Gordon Millichap
doaj   +1 more source

Amphibian Habits: Freedom, Death, and History in Hegel's Account Of Second Nature

European Journal of Philosophy, EarlyView.
Abstract Hegel's concept of habit is key to his account of social freedom. But it also appears preclude free reflection on social norms. Recent readers have either minimized this problem or concluded from it that social freedom necessarily implies new forms of unfreedom. This paper aims to avoid the latter conclusion while taking seriously its critical
Eskil Elling
wiley   +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

Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Yasamin Dehghan, Mozhdeh Sepaskhah
wiley   +1 more source

A Method for Preparing Morphologically Preserved Wildlife Fecal Specimens for Long‐Term Ecological Studies

Ecology and Evolution, Volume 16, Issue 1, January 2026.
This study introduces a novel multistep immersion method to preserve wildlife fecal samples, maintaining morphological integrity, DNA stability (100% extraction success, > 99% BLAST match rates), and resistance to mold/insect damage for 6 months. The technique also enables heavy metal detection, transforming feces into a durable resource for long‐term ...
Jiahao Zhang, Dongling Zhang, Xinrui Xu, Yunqiao Zhang, Qiang Dai   +4 more
wiley   +1 more source

Impact of Frailty on the Prognosis of Patients With Liver Cirrhosis Undergoing Insertion of a TIPS

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 1, Page 109-118, January 2026.
In patients with cirrhosis undergoing TIPS, frailty—measured by the Liver Frailty Index—improved in those with poor baseline status; therefore, high frailty should not be seen as a contraindication to elective TIPS. Additionally, LFI assessment before TIPS enables identification of patients with excellent survival prognosis.
Martin Andreas Kabelitz, Simon Johannes Gairing, Anja Tiede, Eva Maria Schleicher, Liv Grete Ahl, Lea Wagner, Falko Zucker‐Reimann, Hannah Rieland, Jim Benjamin Mauz, Julia Weinmann‐Menke, Bernhard C. Meyer, Michael Bernhard Pitton, Heiner Wedemeyer, Peter Robert Galle, Lisa Sandmann, Benjamin Maasoumy, Christian Labenz   +16 more
wiley   +1 more source

Shock and Resilience: Southeast Asia’s Food Retail Environment in the Time of COVID‐19 Pandemic

Advances in Public Health, Volume 2026, Issue 1, 2026.
Introduction The Coronavirus Disease 2019 (COVID‐19) pandemic has profoundly impacted the food environment, affecting consumer’s behavior, retailer strategy, and subsequently dietary and nutritional outcomes. While existing research has explored these effects globally, few studies have focused on Southeast Asia, a region with unique food systems and ...
Hafizah Jusril, Elaine Q. Borazon, Adila Saptari, Cut Novianti Rachmi, Mohd Jamil Sameeha, Che Aniza Che Wel, Yong Kang Cheah, Vanessa Tan Marquez, Teeranong Sakulsri, Natjera Thongcharoenchupong, Sirinya Phulkerd, Anne Marie Thow, Bee Koon Poh, Mohamed Lounis   +13 more
wiley   +1 more source