Results 21 to 30 of about 283 (122)

Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism

Journal of the Peripheral Nervous System, Volume 27, Issue 4, Page 311-315, December 2022., 2022
Abstract Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)‐like syndrome.
Christopher J. Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S. Rubin, Huw R. Morris, Andrea Cortese, Valeria Iodice, Mary M. Reilly   +8 more
wiley   +1 more source

gAChR antibodies in children and adolescents with acquired autoimmune dysautonomia in Japan

Annals of Clinical and Translational Neurology, Volume 8, Issue 4, Page 790-799, April 2021., 2021
Abstract Objective Patients with acquired autonomic dysfunction may have antibodies specific to the ganglionic nicotinic acetylcholine receptor (gAChR). However, the clinical features of children and adolescents with acquired autonomic dysfunction (AAD) remain unclear.
Makoto Yamakawa, Mari Watari, Ken‐Ichi Torii, Ichiro Kuki, Masashi Miharu, Momoko Kawazu, Akihiro Mukaino, Osamu Higuchi, Yasuhiro Maeda, Tokunori Ikeda, Koutaro Takamatsu, Nozomu Tawara, Keiichi Nakahara, Hidenori Matsuo, Mitsuharu Ueda, Takao Takahashi, Shunya Nakane   +16 more
wiley   +1 more source

Idiopathic generalized anhidrosis with absence of sweat glands: A case report and literature review

Dermatologica Sinica, 2018
Idiopathic generalized anhidrosis is a rare disease characterized by sweating impairment despite exposure to heat or exercise. It could be congenital or acquired. We reported a 22-year-old male with generalized anhidrosis, except axillae, forehead, palms
Chih-Ting Chen, Ding-Dar Lee
doaj   +1 more source

A case of atopic dermatitis with hypohidrosis improved after dupilumab treatment

Journal of Cutaneous Immunology and Allergy, Volume 3, Issue 6, Page 142-144, December 2020., 2020
This is a case of AD complicated with hypohidrosis, and the symptoms of the AD as well as perspiration were dramatically improved after dupilumab treatment.
Shinya Imamura, Ken Washio, Mayuko Mizuno, Yoshiko Oda, Kanako Ogura, Atsushi Fukunaga, Chikako Nishigori   +6 more
wiley   +1 more source

Case report: Ten cases of acquired idiopathic generalized anhidrosis treated with oral pilocarpine

Journal of Cutaneous Immunology and Allergy
Acquired idiopathic generalized anhidrosis is a rare disease characterized by systemic anhidrosis or hypohidrosis without other systemic diseases. However, its etiology remains unclear.
Hanako Miyahara, Noriko Kubota, Mari Okune, Yoshiyuki Ishii, Naoko Okiyama, Toshifumi Nomura, Junichi Furuta   +6 more
doaj   +1 more source

Case Report: Sjögren’s disease diagnosed following generalized anhidrosis

Journal of Cutaneous Immunology and Allergy
Sjögren’s disease typically presents with initial symptoms such as dry mouth, dry eyes, fatigue, and joint pain. This report describes a case of Sjögren’s disease diagnosed following the onset of generalized anhidrosis.
Yoko Shimada, Hiroto Ono, Mei Tochigi, Fumiaki Taga, Akira Shimizu, Mitsuhiro Kawano, Masato Asahina, Kenji Sano   +7 more
doaj   +1 more source

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

American Journal of Medical Genetics Part A, Volume 179, Issue 10, Page 1913-1981, October 2019., 2019
Abstract Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers.
Muriel de La Dure‐Molla, Benjamin Philippe Fournier, Maria Cristina Manzanares, Ana Carolina Acevedo, Raoul C. Hennekam, Lisa Friedlander, Marie‐Laure Boy‐Lefèvre, Stephane Kerner, Steve Toupenay, Pascal Garrec, Brigite Vi‐Fane, Rufino Felizardo, Marie‐Violaine Berteretche, Laurence Jordan, François Ferré, François Clauss, Sophie Jung, Myriam de Chalendar, Sebastien Troester, Marzena Kawczynski, Jessica Chaloyard, International Group of Dental Nomenclature, Marie Cécile Manière, Ariane Berdal, Agnès Bloch‐Zupan   +24 more
wiley   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

In Vivo Confocal Microscopy of the Human Cornea in the Assessment of Peripheral Neuropathy and Systemic Diseases

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
In vivo confocal microscopy (IVCM) of the living human cornea offers the ability to perform repeated imaging without tissue damage. Studies using corneal IVCM have led to significant contributions to scientific and clinical knowledge of the living cornea in health and pathological states. Recently the application of corneal IVCM beyond ophthalmology to
Ellen F. Wang, Stuti L. Misra, Dipika V. Patel, Paolo Nucci   +3 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source