Results 31 to 40 of about 3,040 (188)

Anesthesia for minimally invasive chest wall reconstructive surgeries: Our experience and review of literature

Saudi Journal of Anaesthesia, 2017
Minimal access procedures have revolutionized the field of surgery and opened newer challenges for the anesthesiologists. Pectus carinatum or pigeon chest is an uncommon chest wall deformity characterized by a protruding breast bone (sternum) and ribs ...
Shagun Bhatia Shah, Uma Hariharan, Ajay Kumar Bhargava, Laleng M Darlong   +3 more
doaj   +1 more source

Pectus Excavatum / Pectus Carinatum: tratamento cirúrgico

Revista do Colégio Brasileiro de Cirurgiões
OBJETIVO: Apresentar os resultados obtidos com técnica única para tratamento do Pectus Excavatum e Pectus Carinatum. MÉTODO: De 1976 a 2000 foram operados, 183 portadores de Deformidades da Parede Torácica Anterior sendo 98 Pectus Carinatum (70 P ...
Marlos de Souza Coelho, Wilson de Souza Stori Júnior, Lauro Del Valle Pizarro, Sérgio Augusto Zanin, José Lino Gonçalves, Nelson Bergonse Neto   +5 more
doaj   +1 more source

Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia

Revista Ciencias Biomédicas, 2020
El síndrome de Marfán (MFS) es la enfermedad del tejido conectivo más común de origen  genético, con transmisión hereditaria autosómica dominante. La mutación se localiza en el gen  FBN1 que codifica para la proteína Fibrilina-1.
Dacia I. Malambo García, Gustavo J. Mora García, José C. Pomares Estrada, Cristian Gómez García (q.e.p.d.), Doris E. Gómez Camargo   +4 more
doaj   +1 more source

A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the <i>NFIX</i> Gene. [PDF]

Case Rep Genet
Malan syndrome is a rare overgrowth disorder caused by deletions or pathogenic variants in the NFIX gene. Here, we present the case of a Japanese male infant with Malan syndrome, which was caused by a novel frameshift variant resulting from an eight‐base insertion in Exon 2 of the NFIX gene.
Mori T, Hirano M, Fuse S, Katai M, Shigetomi H.   +4 more
europepmc   +2 more sources

Pectus updates and special considerations in Marfan syndrome

Pediatric Reports, 2018
Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome.
Stephanie Fraser, Anne Child, Ian Hunt
doaj   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source

Safe performance of spinal anesthesia in a critical patient with neurofibromatosis, pectus carinatum, and temporomandibular joint dysfunction: A case report

Patient Safety in Surgery, 2010
Background Neurofibromatosis is a syndrome caused by the abnormal deposition of neural tissues of the nervous system, endocrine system, visceral structures, and skin.
Zencirci Beyazit
doaj   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source