Turner syndrome and neuropsychological abnormalities: a review and case series

Autor: Bruna Baierle Guaraná, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Bruna Lixinski Diniz, Maurício Rouvel Nunes, Ana Kalise Böttcher, Rafael Fabiano Machado Rosa, Rafaella Mergener, Paulo Ricardo Gazzola Zen

Publikováno v: Revista Paulista de Pediatria, Vol 43 (2024)

ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective s

Externí odkaz: https://doaj.org/article/b452197b3ae74074919a1bcbfefea5d9

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

Autor: Marina da Rocha Besson, Mateus dos Santos Taiarol, Eliaquim Beck Fernandes, Isadora Bueloni Ghiorzi, Maurício Rouvel Nunes, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa

Publikováno v: São Paulo Medical Journal, Vol 141, Iss 5 (2023)

ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in pa

Externí odkaz: https://doaj.org/article/845724c6cd134c23a18b02eb38842a63

Nursing diagnoses in Turner syndrome

Autor: Maurício Rouvel Nunes, Simone Travi Canabarro, Ana Paula Vanz, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen

Publikováno v: O Mundo da Saúde, Vol 45, Pp 066-074 (2021)

Turner's syndrome (TS) is a rare genetic disease and has an important impact on the health care of these patients. Although TS is not uncommon, there are still gaps in the literature about nursing care. The objective of the study was to infer nursing

Externí odkaz: https://doaj.org/article/663d3526426f4430bcd07b7e96d43361

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

Autor: Ana Paula Vanz, Henry Victor Dutra Correia, Maurício Rouvel Nunes, Simone Travi Canabarro, Paulo Ricardo Gazzola Zen, Tiago Godói Pereira, Rafael Fabiano Machado Rosa

Publikováno v: Sao Paulo Medical Journal, Volume: 139, Issue: 5, Pages: 435-442, Published: 14 JUN 2021
Sao Paulo Medical Journal, Issue: ahead, Published: 14 JUN 2021
São Paulo Medical Journal, Vol 139, Iss 5, Pp 435-442 (2021)
Sao Paulo Medical Journal v.139 n.5 2021
São Paulo medical journal
Associação Paulista de Medicina
instacron:APM

BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de7f71a95a74e8c38c24a2964b36c65
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802021000500435&lng=en&tlng=en

Orientações de enfermagem a pacientes ostomizados: Revisão integrativa

Autor: Kelly de Souza da Silva, Taiane da Silva de Sá, Juliana Alves Couto, Maurício Rouvel Nunes

Publikováno v: Research, Society and Development. 10:e31310918086

Introdução: O paciente recém estomizado encontra muitas dificuldades para se adaptar a sua nova forma corporal e também apresentam problemas de convívio social. A atuação do enfermeiro como educador em saúde aos pacientes, familiares e cuidad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::09388e06e56df7fa686b11f031d86e41
https://doi.org/10.33448/rsd-v10i9.18086