Results 51 to 60 of about 86,700,063 (188)

Hyperplastic callus formation in congenital insensitivity to pain: A masquerader of osteosarcoma

Pediatric Hematology Oncology Journal, 2023
Background: Congenital insensitivity to pain (CIP) is a rare genetic disorder characterized by the inability to experience pain. Unrecognized, repeated injuries may result in poorly healed fractures with hyperplastic callus formation, auto-amputation of ...
Maha Anwar, Maha Rashid Malik, Shaarif Bashir, Usman Hassan, Alina Sadaf   +4 more
doaj   +1 more source

Bizarre Parosteal Osteochondromatous Proliferation of the Foot: Case Report and Review of Cases Published in the Last 15 Years

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Bizarre parosteal osteochondromatous proliferation is an exceedingly rare bone tumor that mimics malignant lesions both clinically and radiologically. Atypical imaging findings, such as cortical erosion, may bias the differential diagnosis toward malignant tumors.
Jacobo Kerbel, Iturbide Andrés Ponce de León‐Sandoval, Emilio Remolina Sánchez Rucobo, Roberto Berebichez‐Fridman, Enrique Berebichez‐Fastlicht   +4 more
wiley   +1 more source

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain‐of‐Function Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli, Rodrigo Siqueira Soares Frezatti, Christopher J. Record, Maria Cristina Lopes Schiavoni, Natalia Dominik, Jana Vandrovcova, Mary M. Reilly, Wilson Marques Jr   +7 more
wiley   +1 more source

Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]

, 2013
Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Hummel, Thomas, Bruno G Oertel, Lötsch, Jörn, Thomas Hummel, Jörn Lötsch, Doehring, Alexandra, Dirk Heimann, Heimann, Dirk, Alexandra Doehring, Oertel, Bruno Georg   +9 more
core   +2 more sources

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, Volume 111, Issue 9, Page 4015-4040, 1 September 2026.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis

, 2022
Summary points - Congenital insensitivity to pain is a rare autosomal recessive disease characterized by varying degrees of autonomic dysfunction and sensory loss, including nociceptive hyposensitivity.
Sobhani, Maryam, Ghafouri-Fard, Soudeh, Yazarlou, Fatemeh, Hajiesmaeil, Mogge   +3 more
core   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1719-1725, August 2026.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Lesion Site‐Targeted Microspheres Modulate Nav1.7‐Related Signaling for Osteoarthritis Treatment

Advanced Science, Volume 13, Issue 48, 28 August 2026.
Cartilage‐targeted carbamazepine‐loaded WYRGRL‐modified composite microspheres (CBZ/WCOM) anchor to exposed type II collagen in osteoarthritic lesions and release carbamazepine under acidic conditions. This bind‐then‐release platform modulates Nav1.7‐related sodium signaling, Na⁺/Ca²⁺ exchanger‐associated Ca2+ dynamics, and heat shock protein 70 ...
Cheng Chen, Jiaying Li, Jinjin Ma, Xiaonan Yuan, Yao Xiao, Yang Zhang, Yuan Chen, Hao Jiang, Hui He, Jie Hu, Qianglong Chen, Jinniu Zhang, Bin Li, Yun Zhou, Fengxuan Han, Yong Wang   +15 more
wiley   +1 more source

Single‐Stage Uterovaginal Anastomosis: A Surgical Solution for Primary Amenorrhea Due to Vaginal Agenesis: A Case Series

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Here we present follow up of 3 cases of mid vaginal atresia and a functional uterus treated by single stage utero vaginal anastomosis using rectal tube insertion in uterus (for drainage) simultaneously with the amnion graft for vaginoplasty. This procedure successfully restored regular menstruation with fertility preservation and low morbidity.
Elham Askary, Zahra Parsaiyan, Nahideh Afshar Zakaria, Saeed Alborzi, Tahereh Poordast, Shaghayegh Moradi Alamdarlo   +5 more
wiley   +1 more source

A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA) [PDF]

, 2012
How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48.
KARIMI, Mehran, FALLAH, Razieh
core   +1 more source