Purpose Of Review: Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which peripheral neuropathy is just one feature of a more complex syndrome. In recent years there has been a substantial expansion in the number of genes associated with complex neuropathy syndromes.
Recent Findings: This review will focus on emerging themes in this group of diseases, namely the increasing number of diseases due to repeat expansions; the emergence of both recessive and dominant negative alleles in the same gene producing a common phenotype and diseases in which there is selective loss of the allele from haematopoietic stem cells making genetic diagnosis on blood derived DNA problematic.
Summary: In this review we provide a practical approach to investigating and diagnosing patients with peripheral neuropathy as part of a complex syndrome and provide an updated table of the genes associated with this group of diseases.
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http://dx.doi.org/10.1097/WCO.0000000000001307 | DOI Listing |
Rheumatology (Oxford)
January 2025
Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, India.
Objectives: To describe the clinical profile and compare the long-term outcomes of patients with S-PAN treated with various treatment regimens at our centre in the last 2 decades.
Methods: Data regarding clinical presentation, treatment allocation, relapses and outcomes of patients fulfilling American College of Rheumatology (ACR) 1990 criteria for PAN in the last 2 decades were recorded from electronic medical records. Relapse-free survival and predictors were analysed using KM survival statistics and regression analysis.
BMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFHematol Oncol
January 2025
Department of Hematology, Chiba University Hospital, Chiba, Japan.
POEMS syndrome is a multisystemic disease associated with monoclonal plasma cell disorders. Although the presence of bone lesions is included in the diagnostic criteria, their precise manifestations remain unknown. Here, we retrospectively analyzed the bone lesions in patients with POEMS syndrome and evaluated their clinical features.
View Article and Find Full Text PDFIntegr Cancer Ther
January 2025
University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Background: Numbness and tingling secondary to chemotherapy-induced peripheral neuropathy (CIPN) are frequent side effects that limit chemotherapy treatment and quality of life. Successful treatments for CIPN are limited. This preliminary report shows the potential long-term effects of ozone treatment in the management of persistent numbness and tingling secondary to CIPN.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Rehabilitation Research, Vrije Universiteit Brussel (VUB), Laarbeeklaan 121, 1090 Jette, Belgium.
: Paclitaxel (PTX), a commonly used chemotherapy for breast cancer (BC), is associated with dose-limiting toxicities (DLTs) such as peripheral neuropathy and neutropenia. These toxicities frequently lead to dose reductions, treatment delays, or therapy discontinuation, negatively affecting patients' quality of life and clinical outcomes. Current dosing strategies based on body surface area (BSA) fail to account for individual variations in body composition (skeletal muscle mass (SMM) and adipose tissue (AT) mass) and physical activity (PA), which can influence drug metabolism and toxicity.
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