Results 51 to 60 of about 7,351 (200)

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 1(st) and the 2(nd) Italian Consensus Conferences on low-density lipoprotein-apheresis. A practical synopsis and update [PDF]

, 2016
The clinical indications and guidelines for low-density lipoprotein (LDL)-apheresis set by the 1(st) Italian Consensus Conference held in Ostuni in 1990 and completed in 1992, but never published, are reported schematically.
Stefanutti, Claudia
core   +1 more source

Incidental Diagnosis of Erdheim–Chester Disease in a 42‐Year‐Old Man With Persistent Elevated ESR and Peri‐Ocular Xanthomas: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
A 42‐year‐old man with persistent ESR elevation and peri‐ocular xanthomas was diagnosed with Erdheim–Chester disease via biopsy of the accessible cutaneous lesion, supported by characteristic “hairy kidney” imaging and symmetric skeletal uptake.
Mohammad Rahimi, Alireza Ghanadan, Nooshin Shirzad, Mehrnaz Doostmohammadi, Mahboobeh Hemmatabadi   +4 more
wiley   +1 more source

Berardinelli-Seip Syndrome [PDF]

, 2011
We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins ...
Dal, Sameer I, Patel, Hitesh
core   +1 more source

Cholestenoic acid, an endogenous cholesterol metabolite, is a potent γ-secretase modulator. [PDF]

, 2015
BackgroundAmyloid-β (Aβ) 42 has been implicated as the initiating molecule in the pathogenesis of Alzheimer's disease (AD); thus, therapeutic strategies that target Aβ42 are of great interest.
Akula, Rajender, Ba, Saritha, Ceballos-Diaz, Carolina, Felsenstein, Kevin M, Golde, Todd E, Hochhaus, Günther, Jung, Joo In, Koo, Edward H, Ladd, Thomas B, Park, Hyo-Jin, Price, Ashleigh R, Ran, Yong, Shapiro, Gideon, Smithson, Lisa A, Tang, Yufei   +14 more
core   +3 more sources

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Acquired ichthyosis (AI) is a rare dermatological disorder characterized by dry, scaly skin. This case involves a 67‐year‐old Hispanic male with poorly controlled diabetes mellitus (DM) who presented with generalized dryness and itchiness after diabetic ketoacidosis.
Sam Fathizadeh, Alexander D. Woods, Saul Turcios Escobar, Maria Tsoukas, Semonti Nandi   +4 more
wiley   +1 more source

Severe hypertriglyceridemia presenting as eruptive xanthomatosis

Journal of Family Medicine and Primary Care, 2018
Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl.
Sameera S Vangara, Kyle D Klingbeil, Raymond M Fertig, Jason L Radick   +3 more
doaj   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source

Homozygous familial hypercholesterolemia

Indian Journal of Endocrinology and Metabolism, 2012
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar, Mohd. Razaq, Ghanshyam Saini   +2 more
doaj   +1 more source