Results 111 to 120 of about 8,099 (218)

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

Journal of Medical Case Reports
Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae.
Zeeshan Ullah, Ayesha Zafar, Hira Ishaq, Zainab Umar, Amir Khan, Yaseen Badar, Nizamud Din, Muhammad Fawad Khan, Pamela McCombe, Nemat Khan   +9 more
doaj   +1 more source

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. [PDF]

Brain, 2023
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I.   +81 more
europepmc   +1 more source

Unexplained oral and extremity ulcerations in an infant

JAAD Case Reports, 2021
Kristen Russomanno, MD, Ashley DiLorenzo, MD, Kara Simpson, MS, Seth Berger, MD, PhD, Kaiane Habeshian, MD   +4 more
doaj   +1 more source

Congenital insensitivity to pain with anhidrosis

Journal of the Pakistan Medical Association
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis (the inability to sweat) and varying degrees of intellectual disability.
Meher Ayyazuddin, Nushra Maqsood, Saman Khan, null Muhammad Ali, Spenta Kakalia   +4 more
openaire   +1 more source

Congenital insensitivity to pain with anyhydrosis: morphological studies of skin and peripheral nerves

The Turkish Journal of Pediatrics, 1989
Two male siblings born to consanguineous parents, with the diagnosis of congenital insensitivity to pain with anhydrosis are evaluated. The patients presented with unexplained bouts of fever, self-mutilation, repeated trauma and inability to sweat.
R Eker, M Y Apak, T Erbengi, S Apak, M Ozmen   +4 more
doaj  

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis. [PDF]

Pediatr Int, 2023
Kubota M, Haga N.
europepmc   +1 more source

Congenital insensitivity to pain with anhidrosis

Journal of Pediatric Neurosciences, 2012
Dias, Edwin, Charki, Siddu
openaire   +4 more sources

Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". [PDF]

J Vet Intern Med, 2023
Gutierrez-Quintana R, Christen M, Faller KME, Guevar J, Jagannathan V, Leeb T.   +5 more
europepmc   +1 more source

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review. [PDF]

Front Genet, 2023
Yu H, Wu J, Cong J, Chen M, Huang Y, Yu J, Wang L.   +6 more
europepmc   +1 more source

SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. [PDF]

J Vet Intern Med, 2023
Gutierrez-Quintana R, Christen M, Faller KME, Guevar J, Jagannathan V, Leeb T.   +5 more
europepmc   +1 more source