Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Diana, Miclea"'
Autor:
Simona Manole, Roxana Pintican, Emanuel Palade, Maria Magdalena Duma, Alexandra Dadarlat-Pop, Calin Schiau, Ioana Bene, Raluca Rancea, Diana Miclea, Viorel Manole, Adrian Molnar, Carolina Solomon
Publikováno v:
Diagnostics, Vol 14, Iss 10, p 1013 (2024)
Thank you for your comment; it adds value to the article and highlights the importance of molecular testing [...]
Externí odkaz:
https://doaj.org/article/91b816de610a493d8921dad337d104ec
Autor:
Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan, Radu Popp, Monica Mager, Maria Puiu, Cristian Zimbru, Adela Chirita-Emandi, Camelia Alkhzouz
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)
Abstract Background Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population, the genetic etiology being often involved. The aim of this study was to determ
Externí odkaz:
https://doaj.org/article/bee18013fc23455d845c0666f2a8a93d
Autor:
Amalia Fãgãrãşan, Liliana Gozar, Simina-Elena Rusu Ghiragosian, Mircea Murariu, Marian Pop, Andrei Crauciuc, Diana Miclea, Carmen Corina Şuteu
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
IntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and
Externí odkaz:
https://doaj.org/article/b690145c9f7e473ea9d95ea82d891c35
Autor:
Ioana Țaranu, Nicoleta Răcătăianu, Cristina Drugan, Cristina-Sorina Cătană, Andreea-Manuela Mirea, Diana Miclea, Sorana D. Bolboacă
Publikováno v:
Children, Vol 10, Iss 1, p 124 (2023)
Macrophage activation and cytokine release play a pivotal role in inflammation-mediated metabolic disturbances in obesity. The proinflammatory macrophage secretes human chitotriosidase (CHIT1). The expression of the CHIT1 in visceral adipose tissue i
Externí odkaz:
https://doaj.org/article/bf51b113f59b45589c60de0c042a8b2a
Autor:
Alina Grama, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently
Externí odkaz:
https://doaj.org/article/225b30cb0e2e4f26930414ce59e158f4
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Epidermolysis bullosa is a rare form of genodermatosis produced by different gene mutations. The junctional form of the disease (JEB-PA) can associate pyloric atresia, renal abnormalities, and aplasia cutis congenita.Case Description: A c
Externí odkaz:
https://doaj.org/article/9f06b884a3c74cd3ba33a8dc06ee16d3
Autor:
Simona Bucerzan, Diana Miclea, Cecilia Lazea, Carmen Asavoaie, Andrea Kulcsar, Paula Grigorescu-Sido
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
We describe the case of a seven-year-old female patient who presented in our service with severe developmental delay, intellectual disability, facial dysmorphism, and femur fracture, observed in the context of very low bone mineral density. Array-bas
Externí odkaz:
https://doaj.org/article/dd3e9da729164cdcb9acf871cf17f677
Autor:
Simona Manole, Roxana Pintican, Emanuel Palade, Maria Magdalena Duma, Alexandra Dadarlat-Pop, Calin Schiau, Ioana Bene, Raluca Rancea, Diana Miclea, Viorel Manole, Adrian Molnar, Carolina Solomon
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 158 (2022)
We report a case of a 52-year-old woman who was referred to our institution with a superior vena cava syndrome and was investigated through echocardiography, CT and MRI revealing a well-defined, encapsulated pericardial mass. The pathology, correlate
Externí odkaz:
https://doaj.org/article/cdaf5c9910f1451a85ea4e3296c4366b
Autor:
Diana Miclea, Camelia Alkhzouz, Simona Bucerzan, Paula Grigorescu-Sido, Radu Anghel Popp, Ionela Maria Pascanu, Victoria Cret, Cristina Ghervan, Ligia Blaga, Gabriela Zaharie
Publikováno v:
Diagnostics, Vol 11, Iss 11, p 2107 (2021)
Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. Materials and methods. This study prospectively investigated a total o
Externí odkaz:
https://doaj.org/article/3ba310ab17c9459a953f27c59e2db6be
Publikováno v:
Diagnostics, Vol 11, Iss 8, p 1379 (2021)
Differences in sex development (DSD) in patients with 46,XX karyotype occur by foetal or postnatal exposure to an increased amount of androgens. These disorders are usually diagnosed at birth, in newborns with abnormal genitalia, or later, due to pos
Externí odkaz:
https://doaj.org/article/7dfcbb32e58a4d38946132d7f88f6ba3