Results 11 to 20 of about 4,277 (205)

Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Annals of the Child Neurology Society
Background Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene.
Lekshmi Peringassery Sateesh, Pavani Chitamanni, Danielle Akinsanmi, Suman Ghosh, Steven G. Pavlakis, Alexandra Reznikov   +5 more
doaj   +2 more sources

Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated ...
GK Pallavi Urs, Gaurav M Urs, Varsha V Hebbar, Vibha Konanur   +3 more
doaj   +1 more source

Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4

Indian Journal of Paediatric Dermatology, 2022
Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male
Prateek Pathak, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra   +3 more
doaj   +1 more source

Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: Hereditary sensory and autonomic neuropathies (HSANs) are a clinical heterogenous group of inherited neuropathies featuring prominent sensory and autonomic involvement. We report on the management of pregnancy and delivery in a woman with HSAN
Daisuke Higeta, Akihito Morita, Risa Uehara, Maki Inoue, Takashi Kameda, Akira Iwase   +5 more
doaj   +1 more source

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +4 more
europepmc   +2 more sources

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

Indian Journal of Dermatology, 2020
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation ...
Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala   +3 more
doaj   +1 more source

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

Frontiers in Neurology, 2022
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Shoji Tsuji, Hiroshi Takashima   +12 more
doaj   +1 more source

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Frontiers in Genetics, 2020
Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes.
Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang, Li-Yang Zhang   +11 more
doaj   +1 more source

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study. [PDF]

Pediatr Dermatol
ABSTRACT Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy (HSAN) type IV, is an extremely rare autosomal recessive congenital condition characterized by the loss of sensation to pain and absence of sweating with one case report linking this with harlequin color change.
Maazi M, Lam JM.
europepmc   +2 more sources

Classifying the Severity of Cyberbullying Incidents by Using a Hierarchical Squashing-Attention Network

Applied Sciences, 2022
Cyberbullying has become more prevalent in online social media platforms. Natural language processing and machine learning techniques have been employed to develop automatic cyberbullying detection models, which are only designed for binary ...
Jheng-Long Wu, Chiao-Yu Tang
doaj   +1 more source