The hereditary sensory and autonomic neuropathies (HSAN) are a group of rare disorders characterized by prominent sensory and autonomic neuropathy without motor involvement. We report three male cousins with chronic foot ulcers, all were affected with late-onset HSAN type 2 (HSAN2). In view of the history of consanguinity and male sex, X-linked recessive transmission was likely in our patients. According to the authors' knowledge this is the first report of HSAN2 from Iran.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Reinnervation of Free Nipple Grafts Associated With Improved Erection Function.
Plast Reconstr Surg Glob Open
January 2025
From the Division of Plastic and Reconstructive Surgery, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Background: Most patients undergoing breast surgery with free nipple grafts lose nipple erection (NE) function. This study aimed to evaluate the effect of nerve preservation and reconstruction with targeted nipple-areola complex reinnervation (TNR) on NE following gender-affirming mastectomy with free nipple grafting.
Methods: Patients undergoing gender-affirming mastectomy with free nipple grafts were prospectively enrolled.
Risk factors of disease severity and mechanical ventilation requirement in childhood Guillain-Barré Syndrome.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, Faculty of Medicine, İnönü University, Malatya, Türkiye.
Background: This study aimed to investigate the risk factors associated with the severity of the disease, the need for mechanical ventilation (MV) and poor prognosis in the early stages of Guillain-Barré Syndrome (GBS).
Methods: Data of children who met GBS diagnostic criteria were evaluated retrospectively. The sample was divided into three binary subgroups according to severe GBS (Hughes Functional Grading Scale [HFGS] ≥ 4 at admission), mechanical ventilation (MV) requirement, and poor prognosis (inability to walk independently, HFGS ≥ 3 after six months).
Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Ann Clin Transl Neurol
January 2025
Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.
View Article and Find Full Text PDFUsing Artificial Intelligence in the Comprehensive Management of Spinal Cord Injury.
Korean J Neurotrauma
December 2024
Department of Neurosurgery, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea.
Spinal cord injury (SCI) frequently results in persistent motor, sensory, or autonomic dysfunction, and the outcomes are largely determined by the location and severity of the injury. Despite significant technological progress, the intricate nature of the spinal cord anatomy and the difficulties associated with neuroregeneration make full recovery from SCI uncommon. This review explores the potential of artificial intelligence (AI), with a particular focus on machine learning, to enhance patient outcomes in SCI management.
View Article and Find Full Text PDFNovel Perspectives for Sensory Analysis Applied to Piperaceae and Aromatic Herbs: A Pilot Study.
Foods
January 2025
Interdepartmental Research Centre "Nutraceuticals and Food for Health", University of Pisa, Via del Borghetto 80, I-56124 Pisa, Italy.
Spices and aromatic herbs are important components of everyday nutrition in several countries and cultures, thanks to their capability to enhance the flavor of many dishes and convey significant emotional contributions by themselves. Indeed, spices as well as aromatic herbs are to be considered not only for their important values of antimicrobial agents or flavor enhancers everybody knows, but also, thanks to their olfactory and gustatory spectrum, as drivers to stimulate the consumers' memories and, in a stronger way, emotions. Considering these unique characteristics, spices and aromatic herbs have caught the attention of consumer scientists and experts in sensory analysis for their evaluation using semi-quantitative approaches, with interesting evidence.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!