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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical. A 5-year-old boy, the third child of consanguineous parents, was referred for a fractured femur.
View Article and Find Full Text PDFAtypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.
Mol Genet Genomic Med
October 2024
Division of Hematology/Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Background: Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV). The most commonly reported features include anhidrosis, intellectual disability, self-mutilation, febrile episodes, impaired temperature perception, recurrent infections and/or autonomic nervous system impairment. Major joint destruction and joint deformity known as Charcot (neuropathic) joints are also seen in CIPA patients attributed to insensitivity to joint pain.
View Article and Find Full Text PDFA RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz.
Anim Genet
December 2024
Institut de Génétique et Développement de Rennes (IGDR) - UMR6290, CNRS, Université de Rennes, Rennes, France.
Article Synopsis
- Hereditary sensory and autonomic neuropathies (HSAN) are genetic disorders affecting the peripheral nervous system, with at least 16 known genetic loci in humans, while similar conditions like acral mutilation syndrome (AMS) have been noted in dogs, especially impacting their quality of life.
- A study focused on a purebred German Spitz showed early-onset HSAN/AMS, leading to severe self-mutilation due to loss of pain sensation, and whole-genome sequencing identified a variant in the RETREG1 gene as the likely cause.
- This variant impairs neuron function and confirms its role in the recessive form of HSAN/AMS for the breed, highlighting
Experiences, health needs, and access to health services of university students with female circumcision: A qualitative study.
J Obstet Gynaecol Res
October 2024
Department of Midwifery, Kastamonu University Faculty of Health Sciences, Kastamonu, Turkey.
Aims: This study aimed to assess the female circumcision (FC) experiences, healthcare needs, and access to health services of foreign university students who are victims of female genital mutilation and studying in Turkey.
Methods: This descriptive qualitative study was conducted in the Faculty of Health Science in a state university in Turkey from December 2021 to January 2022. Eight students who had been subjected to FC participated in this study.
Comparison of Menstrual Symptoms in University Students with and without Female Genital Mutilation/Cutting.
Int J Womens Health
September 2024
Department of Nursing, University of Health Sciences, Somalia Mogadishu Recep Tayyip Erdoğan Faculty of Health Sciences, Mogadishu, Somalia.
Purpose: The aim of this study was to compare the menstrual symptoms and dysmenorrhea in university students who underwent Female genital mutilation/cutting (FGM/C), in Mogadishu, Somalia, and students who did not undergo FGM/C in Ankara, Türkiye.
Methods: A comparative cross-sectional study design was used.
Results: Among the participants with FGM/C, 88.
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