Results 71 to 80 of about 7,432 (204)

The Rasch-built Pompe-specific activity (R-PAct) scale. [PDF]

, 2013
We constructed a patient-based interval scale using Rasch analysis, specifically suited to quantify the effects of Pompe disease on patient's ability to carry out daily life activities and their social participation: Rasch-built Pompe-specific Activity ...
Beek, N.A.M.E. (Nadine) van der, Doorn, P.A. (Pieter) van, Hagemans, M.L.C. (Marloes), Merkies, I.S.J. (Ingemar), Ploeg, A.T. (Ans) van der   +4 more
core   +1 more source

Diagnostic testing and treatment in Japanese patients with a diagnosis code for chronic inflammatory demyelinating polyradiculoneuropathy: A claims database analysis

Clinical and Experimental Neuroimmunology, Volume 16, Issue 2, Page 98-107, May 2025.
Abstract Objectives Reports of real‐world data concerning chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are limited in Japan. This study aimed to investigate the diagnostic testing and treatment performed in patients diagnosed with CIDP in Japan. Methods Using a Japanese commercial medical information database, we analyzed diagnostic
Motoi Kuwahara, Susumu Kusunoki, Ataru Igarashi, Satoshi Akiyama, Taku Fukushima, Mamoru Doi   +5 more
wiley   +1 more source

Real‐world safety and treatment patterns of subcutaneous IgPro20 for chronic inflammatory demyelinating polyneuropathy: Post‐marketing surveillance in Japan

Clinical and Experimental Neuroimmunology, Volume 16, Issue 2, Page 108-117, May 2025.
Abstract Objectives IgPro20, a subcutaneous immunoglobulin replacement therapy, is approved in Japan for chronic inflammatory demyelinating polyneuropathy (CIDP). This post‐marketing surveillance study characterized real‐world treatment patterns and safety profile of injection site reactions associated with IgPro20 treatment in Japanese patients with ...
Naoki Terasaka, Takanori Mizushima, Yuki Niwa, Tetsushi Akasaki, Hideo Usui   +4 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort

Clinical Genetics, EarlyView.
Rare damaging SPG7 variants were detected in 58 patients with spastic paraplegia, ataxia, mitochondrial dysfunction, or motoneuron lesions. The cumulative prevalence of SPG7‐related conditions in Hungary was estimated. Phenotypic spectra and mitochondrial dysfunction were assessed in monoallelic and biallelic cases, contributing to the understanding of
Idris Janos Jimoh, Peter Balicza, Tamas Szlepak, Dora Csaban, Aniko Gal, Adrienn Geresi, Zoltan Grosz, Agnes Palasti, Judit Boczan, Peter Klivenyi, Maria Judit Molnar   +10 more
wiley   +1 more source

Atypical pure sensory forms of chronic inflammatory demyelinating polyneuropathies [PDF]

, 2019
Department of Neurology No 1, Nicolae Testemitsanu State University of Medicine and Pharmacy, Chisinau, the Republic of MoldovaBackground: There are still not enough data on clinical and laboratory peculiarities of atypical chronic inflammatory ...
Gavriliuc, Eugen, Lisnic, Vitalie
core   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
wiley   +1 more source

Procedury pielęgniarskie u pacjenta polineuropatycznego [PDF]

, 2022
Introduction. Polyneuropathy is a condition where multiple sensory and motor nerves are damaged, leading to the development of a number of nuisances. These ailments can, in the long run, lead to a significant reduction in the comfort of our lives. Nurses
Chorąży, Monika, Dolińska, Cecylia, Snarska, Katarzyna Krystyna   +2 more
core   +1 more source

Sonographic features of active Charcot neuro‐osteoarthropathy: A case series

Diabetic Medicine, Volume 42, Issue 6, June 2025.
Abstract Aims To describe the sonographic features of active Charcot neuro‐osteoarthropathy (CNO) and assess the potential role of ultrasound in identifying those with active CNO. Methods Using a prospective case‐series study design we assessed the sonographic features of 14 patients with a diagnosis of diabetes presenting with clinical signs and ...
Jennifer A. Pallin, Michael Lockhart, Aonghus O'Loughlin, David Gallagher, Stephen R. Kearns, Sean F. Dinneen, Diane Bergin   +6 more
wiley   +1 more source

A Rare Case of X-Linked Bulbo-Spinal Muscular Atrophy with Sensory Neuropathy and Tremors [PDF]

, 2021
Kennedy disease (KD) is also known as spino bulbar muscular atrophy caused by a tandem C-A-G tri-nucleotide repeat. It is an adult-onset X-linked recessive inherited neurodegenerative disease involving lower motor neuron damage with predominance of ...
Badshah, Mazhar, Hassan, Muhammad, Inayat, Tehmina, Iqbal, Mansoor, Irshad, Muhammad, Jan, Zakir, Shahzad, Waleed   +6 more
core   +1 more source

Carnitine supplementation improves insulin sensitivity and skeletal muscle acetylcarnitine formation in patients with type 2 diabetes

Diabetes, Obesity and Metabolism, Volume 27, Issue 5, Page 2864-2877, May 2025.
Abstract Aim/Hypothesis Recently, we reported that increasing free carnitine availability resulted in elevated skeletal muscle acetylcarnitine concentrations and restored metabolic flexibility in individuals who have impaired glucose tolerance. Metabolic flexibility is defined as the capacity to switch from predominantly fat oxidation while fasted to ...
Yvonne M. H. Op den Kamp‐Bruls, Yvo J. M. Op den Kamp, Pandichelvam Veeraiah, Ruben Zapata Perez, Esther Phielix, Bas Havekes, Gert Schaart, Esther Kornips, Bart R. B. Berendsen, Ashraf Virmani, Joachim E. Wildberger, Riekelt H. Houtkooper, Matthijs K. C. Hesselink, Patrick Schrauwen, Vera B. Schrauwen‐Hinderling   +14 more
wiley   +1 more source