Results 1 to 10 of about 6,120 (193)

Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials [PDF]

Therapeutic Advances in Rare Disease
Background: Late-onset Pompe disease (LOPD) is caused by a deficiency of the acid α-glucosidase enzyme. In LOPD treatment, enzyme replacement therapy is delivered via intravenous infusion, typically in clinical settings. Cipaglucosidase alfa is delivered
Henning Andersen, Jordi Díaz-Manera, Ozlem Goker-Alpan, Tahseen Mozaffar, Sheela Sitaraman Das, Brian Fox, Farah Amon, Kinesha O’Brien-Prince, Mitchell Goldman, Fred Holdbrook, Vipul Jain, Barry J. Byrne   +11 more
doaj   +2 more sources

Multidisciplinary Approach for Dental Management of Congenital Insensitivity to Pain with Anhidrosis: Clinical Case Report with 12-Month Follow-Up [PDF]

Dentistry Journal
Background: Congenital Insensitivity to Pain and Anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by congenital analgesia, anhidrosis, and multisystem involvement affecting the musculoskeletal, cutaneous, oral, and para-oral ...
Almoataz B. A. T. Abdel-bari, Mohamed Fawzy, Khaled A. Saad, Hatem A. Alhadainy   +3 more
doaj   +2 more sources

Prognostic value of the CIPA nutritional screening tool in over 30,000 hospitalized patients: a retrospective study (2014–2022) [PDF]

Frontiers in Nutrition
IntroductionMalnutrition is a well-established negative prognostic factor in hospitalized patients, contributing to increased morbidity and mortality. The CIPA (Control of Food Intake, Protein, and Anthropometry) screening tool was developed to identify ...
Javier García Fernández, José Pablo Suárez-Llanos, Cristina Lorenzo González, Elena Márquez Mesa, María Araceli García Núñez, Maria Demelza Farrais Luis, Manuel Enrique Fuentes Ferrer   +6 more
doaj   +2 more sources

A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa [PDF]

Journal of Comparative Effectiveness Research
Aim: Late-onset Pompe disease (LOPD) is a rare lysosomal disease primarily impacting muscle strength and respiratory function. LOPD has a substantial burden despite the availability of alglucosidase alfa (alg).
Amy Dymond, Will Green, Matthew Crabtree, Alasdair MacCulloch, Neil Johnson, Simon Shohet, Vera Gielen, Sophie Clarke, Patrick Deegan, Jordi Diaz-Manera   +9 more
doaj   +2 more sources

Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis [PDF]

Frontiers in Genetics
ObjectivesCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder caused by mutations in NTRK1 that is characterized by pain insensitivity, anhidrosis, and recurrent fever. While genetic testing is the gold standard
Xin Chen, Xin Chen, Shuang Li, Shuang Li, Zhe Liu, Jian Cheng, Xiuzhi Ren, Xiuli Zhao, Xiuli Zhao, Xiuli Zhao   +9 more
doaj   +2 more sources

Uncovering oral and maxillofacial clues in congenital insensitivity to pain with anhidrosis: what can sibling cases teach us? [PDF]

BMC Oral Health
Background Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an extremely rare congenital disorder characterized by severe clinical and oral manifestations.
Katibe Tugce Temur
doaj   +2 more sources

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome [PDF]

Vision
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and ...
Mohammed Baker, Kenda Abedal-Kareem, Sadeen Eid, Mahmoud Alkhawaldeh, Yahya Albashaireh, Jihan Joulani, Sara Bani Amer, Ethar Hazaimeh, Omar F. Jbarah, Abdelwahab Aleshawi, Rami Al-Dwairi   +10 more
doaj   +2 more sources

Ultrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report [PDF]

BMC Anesthesiology
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathies (HSAN I-V), is an exceptionally rare autosomal recessive disorder. The pathogenesis of CIPA remains not fully elucidated.
Jianzhong Li, Mingming Zhang, Dalong Dong, Hong Xu, Ankui Wang, Qi Liu, Lei Duan   +6 more
doaj   +2 more sources

Usefulness of Bnet, a Simple Linear Metric in Discerning Torsades De Pointes Risks in 28 CiPA Drugs

Frontiers in Pharmacology, 2019
The Comprehensive in vitro Proarrhythmia Assay (CiPA) project suggested the torsade metric score (TMS) which requires substantial computing resources as a useful biomarker to predict proarrhythmic risk from human ether-à-go-go–related gene (hERG) and a ...
Hyang-Ae Lee, Ki-Suk Kim, Sungpil Han
exaly   +3 more sources

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data [PDF]

Journal of Comparative Effectiveness Research
Aim: Treatment options for late-onset Pompe disease (LOPD) include enzyme replacement therapy (ERT) with alglucosidase alfa (alg), cipaglucosidase alfa plus miglustat (cipa + mig) and avalglucosidase alfa. However, only one randomized controlled trial (
Shuai Fu, Noemi Hummel, Simon Shohet, Neil Johnson, Alasdair MacCulloch, Jeff Castelli, William Kerr, Brian Fox, Vera Gielen   +8 more
doaj   +2 more sources