Results 31 to 40 of about 33,230 (199)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Valor do sinal da seda no diagnótico da permeabilidade do conduto peritônio-vaginal. [PDF]

, 2006
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Koch, Milene Caroline
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Pneumoperitoneum by using a Veress needle puncture in the left hypochondriac region: a prospective, randomized clinical trial [PDF]

, 2005
BACKGROUND: In the creation of the pneumoperitoneum with the Veress neddle, all reported incidents occurred during the puncture in the midline of the abdomen.
Aguiar-Yamaguchi, Gilmara Silva, Azevedo, João Luiz Moreira Coutinho, Azevedo, Otávio Cansanção, Godoy, Antônio Cláudio de, Menezes, Francisco Julimar Correia de, Sorbello, Albino Augusto   +5 more
core   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Hérnia ingual: análise de 162 pacientes operados no Hospital Universitário da Universidade Federal de Santa Catarina. [PDF]

, 1987
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Vasconcellos Júnior, Newton Dias de
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Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Laparoscopic identification of a direct inguinal hernia with bladder involvement in an infant

Journal of Pediatric Surgery Case Reports, 2023
Inguinal hernias are a common problem in premature infants, with incidence increasing as the gestational age decreases. Direct inguinal hernias are rare in infants with minimal documentation in the medical literature.
Juhye Kang, Nicole J. Kus, James T. Moore, Eric D. Strauch, Brian R. Englum   +4 more
doaj   +1 more source

Superficial Venous Aneurysms. Casuistic, Case Reports and Literature Review [PDF]

, 2016
Os aneurismas venosos são uma entidade patológica pouco frequente, embora a sua deteção possa vir a aumentar como consequência da crescente utilização do ecodoppler como meio complementar de diagnóstico. Podem apresentar-se, clinicamente, como massas dos
Cabete, J, Cavadas, D, Formiga, A, Neves, J, Sousa, V   +4 more
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Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Estudo de 46 casos de hernioplastias com uso de tela de marlex realizadas no Hospital Universitário - UFSC. [PDF]

, 1989
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Souza, Carlos Eduardo de
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