Results 51 to 60 of about 3,826 (210)

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2170-2180, November 2025.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

Kindler Syndrome: A Case Report From a Developing Country

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib, Cyrine Ali Deeb, Tala Dib, Roula Baddour   +3 more
wiley   +1 more source

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Teresa Maria Grazia Fasciana, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto   +7 more
wiley   +1 more source

Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports

Journal of Medical Case Reports, 2017
Background Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability.
Cong Wang, Xianwei Zhang, Shanna Guo, Jiaoli Sun, Ningbo Li   +4 more
doaj   +1 more source

Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report

Frontiers in Medicine, 2022
We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer.
Rong Zhu, Yuxiang Zhu, Mingpeng Xu, Zhensheng Gu   +3 more
doaj   +1 more source

Development of an HPLC–HRMS Method for the Identification and Semi‐Quantitation in River Water Samples of the Transformation Products Originated From Heterogeneous Photocatalysis of Antipsychotic Drugs

Journal of Separation Science, Volume 48, Issue 10, October 2025.
ABSTRACT The environmental occurrence of psychiatric drugs is a growing concern due to their widespread use and persistence in aquatic systems. In this study, haloperidol and aripiprazole, two commonly prescribed antipsychotic agents, were selected as model compounds to investigate their photocatalytic modification and assess the formation of ...
Elena De Rosa, Serena Arpaia, Sandra Vietti Michelina, Francesco Oliva, Claudio Medana, Paola Calza, Federica Dal Bello   +6 more
wiley   +1 more source

A case of hereditary sensory autonomic neuropathy type IV

Annals of Indian Academy of Neurology, 2012
Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation.
G P Prashanth, Mahesh Kamate
doaj   +1 more source

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

BMC Medical Genomics, 2023
Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect ...
Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah   +7 more
doaj   +1 more source

Generalized anhidrosis.

Neurosciences (Riyadh, Saudi Arabia), 2013
[Abstract Not Available]
Yilmazer, Serkan, Okuyucu, Esra, Melek, Ismet, Duman, Taskin   +3 more
openaire   +2 more sources

Non‐Pulmonary Vein Substrate Ablation of Recurrent Atrial Fibrillation in the Patient With Fabry Disease

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Fabry disease (FD) is a rare disease that progressively causes myocardial degeneration. There are only a few low‐voltage areas, but some fractionated potentials are present in the left atrium of FD patients with atrial fibrillation (AF). Attempting non‐pulmonary vein (non‐PV) substrate ablation may be worthwhile.
Koumei Onuki, Kenichi Hiroshima, Akihiro Isotani, Masato Fukunaga, Michio Nagashima, Kenji Ando   +5 more
wiley   +1 more source