Results 1 to 10 of about 173,392,339 (131)

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI) [PDF]

Orphanet Journal of Rare Diseases, 2022
Background and importance Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy. Objectives
Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira   +10 more
doaj   +6 more sources

Generalized arterial calcification of infancy – Fetal diagnosis to postnatal management [PDF]

Annals of Pediatric Cardiology
Generalized arterial calcification of infancy is a rare entity with poor fetal and postnatal outcomes and high morbidity in survivors. Half of the cases are diagnosed intrauterine due to hemodynamic compromise, and the associated manifestations pose ...
Lamk Kadiyani, PM Shivaprasad, Sivasubramanian Ramakrishnan, Anubhuti Rana, Niraj Pandey   +4 more
doaj   +5 more sources

Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report [PDF]

BMC Pediatrics, 2018
Background Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene.
Iole Brunod, Barthélémy Tosello, Sophie Hassid, Catherine Gire, Laurent Thomachot, Michel Panuel   +5 more
doaj   +7 more sources

Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach [PDF]

Journal of Multidisciplinary Healthcare, 2022
Kenji Kawai,1,* Yu Sato,1,* Rika Kawakami,1 Atsushi Sakamoto,1 Anne Cornelissen,1 Masayuki Mori,1 Saikat Ghosh,1 Robert Kutys,1 Renu Virmani,1 Aloke V Finn1,2 1CVPath Institute, Gaithersburg, MD, USA; 2University of Maryland, School of Medicine ...
Kawai K, Sato Y, Kawakami R, Sakamoto A, Cornelissen A, Mori M, Ghosh S, Kutys R, Virmani R, Finn AV   +9 more
doaj   +6 more sources

Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report [PDF]

Children
Generalized arterial calcification of infancy (GACI) is a rare disease characterized by arterial calcification. GACI is caused by a mutation in the ENPP1 or ABCC6 genes. GACI causes severe hypertension and heart failure, and approximately 50% of patients
Masato Tanaka, Akira Kobayashi, Haruhiro Kuwabara, Jun Nirei, Junichi Ozawa, Kentaro Sawano, Nao Shibata, Keisuke Nagasaki, Akihiko Saitoh   +8 more
doaj   +5 more sources

Generalized arterial calcification of infancy in a neonate with acute kidney injury: A rare case report [PDF]

Radiology Case Reports, 2023
Generalized arterial calcification of infancy (GACI) is a rare condition characterized by diffuse arterial calcification within the internal elastic lamina associated with intimal proliferation leading to stenosis of great and medium-sized vessels, which
Samuel Sisay Hailu, MD, Hermon Miliard Derbew, MD, Tesfahunegn Hailemeriam, MD   +2 more
doaj   +3 more sources

Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant [PDF]

Frontiers in Cardiovascular Medicine, 2023
Generalized arterial calcification of infancy (GACI) is a rare genetic disease characterized by arterial calcifications or stenoses and hypertension.
Pengtao Lu, Jinglong Chen, Mei Chen, Ling Wang, Dandan Xiang, Jie Yin, Shiwei Yang   +6 more
doaj   +4 more sources

Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn [PDF]

Frontiers in Pediatrics, 2022
Generalized arterial calcification of infancy (GACI) is an extremely rare autosomal recessive condition characterized by the storage of calcium at the level of internal elastic membrane of arteries.
Simona Gurzu, Simona Gurzu, Simona Gurzu, Diana Burlacu, Diana Burlacu, Réka Sánta, Réka Sánta, Ioan Jung, Mark Slevin, Emöke Fulop   +9 more
doaj   +5 more sources

Case Report: Delivery or not, generalized arterial calcification of infancy in China [PDF]

Frontiers in Medicine
Generalized arterial calcification of infancy (GACI) is an extremely rare, often fatal condition characterized by widespread calcification and stenosis of both large and medium-sized arteries. The majority of cases are caused by biallelic variants in the
Yanxiu Guo, Jing Wang, Ying Gu, Qiang Ma, Li Lin   +4 more
doaj   +3 more sources

Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives [PDF]

Journal of Cardiovascular Development and Disease
Generalized Arterial Calcification of Infancy (GACI) is a rare autosomal recessive disorder characterized by pathological calcium deposition in large and medium-sized arteries, leading to severe cardiovascular complications such as hypertension, heart ...
Biagio Castaldi, Giuseppe Imperatore, Elettra Pomiato, Giovanni Di Salvo   +3 more
doaj   +4 more sources