Results 41 to 50 of about 1,356 (199)

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  

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

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  

Quando falta o corpo caloso

Galicia Clínica, 2017
A agenesia do corpo caloso é uma malformação cerebral com incidência estimada de 1:4000 que pode apresentar-se isolada ou associada a outras condições.
Marta Oliveira Ferreira, Alice Pinheiro, Liliana Oliveira, Nuno Cardoso, Augusto Duarte   +4 more
doaj   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us

Journal of Medical Radiation Sciences, EarlyView.
Health consumer complaints to the New Zealand Health and Disability Commissioner involving sonographers are rare, totalling 15 in the last 31 years and averaging 1.5 cases per year over the last decade. A large proportion of complaints involve an undetected finding, obstetric examination and private setting.
Martin Necas, Claire Calver, Alex Hill, Danielle Mourits, Sarah Park, Carla Smith   +5 more
wiley   +1 more source

Interrater reliability in pediatric high‐resolution anorectal manometry recordings

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives High‐resolution anorectal manometry (HR‐ARM) is a diagnostic test assessing anorectal neuromuscular function in children with constipation and/or fecal incontinence. Interrater reliability of HR‐ARM in children has not been previously studied. The aim of this study was to assess the interrater reliability of pediatric HR‐ARM studies.
Julia M. J. van der Zande, Marc A. Benninga, Bruno P. Chumpitazi, Anil Darbari, Jose M. Garza, Julie Khlevner, Samuel Nurko, Miguel Saps, Karla Vaz, Sujithra Velayuthan, Md Rejuan Haque, Carlo Di Lorenzo, Peter L. Lu   +12 more
wiley   +1 more source

Tomografia computadorizada na agenesia do corpo caloso: achados em 27 casos

Arquivos de Neuro-Psiquiatria, 1998
Foi realizado estudo retrospectivo de tomografia computadorizada em 27 pacientes com anormalidades anatômicas definidas como agenesia total do corpo caloso, afastando-se os casos de agenesia parcial.
MINGUETTI GUILBERTO, FURTADO KARINE, AGOSTINI LISANDRA CARLA DE   +2 more
doaj  

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

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source