Zobrazeno 1 - 10
of 1 093
pro vyhledávání: '"CONGENITAL insensitivity to pain"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT 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 in
Externí odkaz:
https://doaj.org/article/992b93d6db4248ab9d5b90aae4efd39b
Autor:
Zeeshan Ullah, Ayesha Zafar, Hira Ishaq, Zainab Umar, Amir Khan, Yaseen Badar, Nizamud Din, Muhammad Fawad Khan, Pamela McCombe, Nemat Khan
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including sk
Externí odkaz:
https://doaj.org/article/c24c34f882634284b0066fc338866fd7
Autor:
LEVY, ARIEL (AUTHOR)
Publikováno v:
New Yorker. 1/13/2020, Vol. 95 Issue 44, p18-24. 7p. 1 Color Photograph, 4 Cartoon or Caricatures.
Publikováno v:
Indian Journal of Pain, Vol 38, Iss 1, Pp 69-71 (2024)
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal disorder. It is characterized by systemic insensitivity to pain, unexplained fever, and psychiatric manifestations. Anesthetic management of these cases is a challenge to the
Externí odkaz:
https://doaj.org/article/1733d54191dc4e09baa6d8d8a6c57f7d
Autor:
Makretskaya, Nina1 makretskayan@gmail.com, Bezlepkina, Olga1, Kolodkina, Anna1, Kiyaev, Alexey2, Vasilyev, Evgeny V.1, Petrov, Vasily1, Kalinenkova, Svetlana3, Malievsky, Oleg4, Dedov, Ivan I.1, Tiulpakov, Anatoly1
Publikováno v:
PLoS ONE. 9/21/2018, Vol. 13 Issue 9, p1-13. 13p.
Autor:
Xingzhu Geng1, Yanshan Liu1, XiuZhi Ren2, Yun Guan3, Yanzhou Wang4, Bin Mao1, Xiuli Zhao1 xiulizhao@ibms.pumc.edu.cn, Xue Zhang1 xuezhang@pumc.edu.cn
Publikováno v:
Molecular Pain. 6/8/2018, Vol. 14, p1-11. 11p.
Autor:
Sugiyama, Yuki1, Gotoh, Sayako1,2, Urasawa, Masatoshi1,2, Kawamata, Mikito1, Nakajima, Koichi2
Publikováno v:
Case Reports in Anesthesiology. 6/3/2018, p1-4. 4p.
Autor:
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system. Clinical man
Externí odkaz:
https://doaj.org/article/8da963c2676e4fdb90534c447e635132
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 616-625 (2023)
Congenital insensitivity to pain with anhidrosis (CIPA) is associated with Charcot arthropathy and is a rare clinical syndrome, with limited treatment options. Through a decade-long follow-up of a single case, we aim to provide new insights for clini
Externí odkaz:
https://doaj.org/article/ab026b6d1cf349aa807b4b524265f2ee
Autor:
Urfalioglu, Aykut1 aykutmd1903@gmail.com, Arslan, Mahmut1, Duman, Yakup2, Gisi, Gökce1, Oksuz, Gözen1, Yildiz, Hüseyin1, Oksuz, Hafize1, Balaban, Ayşe1
Publikováno v:
Journal of Nippon Medical School. 2017, Vol. 84 Issue 5, p237-240. 4p.