Results 51 to 60 of about 1,473 (227)

Síndrome de Townes-Brocks en Barranquilla, Colombia: Reporte de caso y estado del arte

Salud Uninorte, 2019
El síndrome de Townes-Brocks, descrito por primera vez en 1972, se caracteriza por tres anomalías congénitas mayores: malformación anorrectal, orejas displásicas y malformaciones del pulgar. Es un trastorno genético raro con herencia autosómica dominante
VANESSA SABELLA-JIMÉNEZ, CARLOS OTERO-HERRERA, RAFAEL TOVAR BERARDINELLI, GLORIA ROLÓN MARTÍNEZ, CARLOS SILVERA-REDONDO, PILAR GARAVITO-GALOFRE   +5 more
doaj  

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

AGENESIA OF TRACHEA

Вопросы современной педиатрии, 2010
The article presents basic literature data on rare, potentially incompatible to life malformation of airways — agenesia or trachea. Two clinical descriptions of newborns with this pathology are presented.Key words: agenesia of trachea, tracheoesophageal fistula.(Voprosy sovremennoi pediatrii — Current Pediatrics. – 2010;9(3):151-153)
Yu.L. Soldatskiy, V.V. Volod’kina, S.A. Klochkov, I.A. Stroganov, E.K. Onufrieva   +4 more
openaire   +2 more sources

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Agenesia pulmonar [PDF]

Revista chilena de pediatría, 1974
JORGE JIMENEZ, LEONIDAS PADILLA
openaire   +3 more sources

Asociación entre agenesia dental y maloclusión en pacientes pediátricos

Revista de Odontopediatria Latinoamericana, 2013
Introducción: La agenesia dental es la anomalía del desarrollo más frecuente en el ser humano, asociándose a maloclusiones y alteraciones funcionales.
A. Carolina Medina, Rodrigo Del Pozo
doaj  

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Agenesia do cerebelo associada a microcefalia e agiria: relato de um caso autopsiado em recém-nascido e revisão da literatura

Arquivos de Neuro-Psiquiatria, 1988
É apresentado um caso autopsiado de agenesia do cerebelo associada a microcefalia, agiria e deformidades das extremidades e pavilhões auriculares, associação esta até então não relatada na literatura. Este é o sétimo caso de agenesia cerebelar registrado
José Eymard Homem Pittella, Ana Margarida Miguel Ferreira Nogueira   +1 more
doaj   +1 more source