Results 111 to 120 of about 10,363 (272)

Minimally invasive management of large seminal vesicle cyst in Zinner syndrome: Laser ablation for urinary retention

UroPrecision, EarlyView.
Abstract Background In Zinner syndrome (ZS), surgical intervention is recommended for pediatric patients with symptomatic disease. It is generally believed that cyst aspiration alone may lead to symptom recurrence. Although comprehensive surgical excision is often advocated to prevent recurrence, a combined approach of cyst aspiration and maximal cyst ...
Muhammed Arif Ibis, Zafer Tokatlı, Araz Musaev, Tarkan Soygür   +3 more
wiley   +1 more source

Un caso de hernia diafragmatica (Agenesia parcial del hemídiafragma izquierdo) plastia del díafragma con pulmón atelectásico

Revista de la Facultad de Medicina, 1951
Hospital de la Misericordia. Servicio del doctor Martínez. Sala Rosa. C. J. P. E. 10 años. N. El Charquito (Soacha). F. de L .Septi~tnbre 12 de 1950. F. de S. Noviembre 5 de 1950. D. Preliminar, neumonía. C. de ingreso. Consulta porque
Alfonso Bonilla Naar, Angel María Corredor, Ernesto Sabogal   +2 more
doaj  

Síndrome de Mayer-Rokitansky- Küster-Hauser asociado con malformación anorectal

Repertorio de Medicina y Cirugía, 2019
La agenesia vaginal es una entidad poco frecuente que puede presentarse en forma aislada o acompañada de otras anomalías congénitas. El desconocimiento de esta asociación puede retardar su diagnóstico, causar complicaciones indeseadas y comprometer el ...
Jesús Ángel Fernández Fernández, Grisel María Marín Rincón   +1 more
doaj   +1 more source

Agenesia lumbosacra [PDF]

, 2007
La agenesia lumbosacra es una malformación congénita muy rara que forma parte del síndrome de regresión caudal; su incidencia es de un caso por cada 25,000 nacidos vivos y es más frecuente en los hijos de madres diabéticas.
Cruz Rodríguez, Alejandra, Delgado González, Claudia J., Loera Gutiérrez, Rigel G., Rodríguez Balderrama, Isaías, Rodríguez Bonito, Rogelio   +4 more
core  

Early Maturation of Heart Rate Variability in Very Preterm Infants Depends on Neonatal Factors and Is Associated With Neurodevelopmental Risk

Acta Paediatrica, EarlyView.
ABSTRACT Aim This study investigated central autonomic network maturation deviations using a previously defined machine learning model set to estimate a functional maturation age (FMA) from heart rate variability (HRV) analysis. We investigated whether these deviations were associated with maternal, fetal, perinatal, or postnatal complications and with
Léa Bonneau, Cyril Flamant, Maxime Esvan, Jean Michel Roué, Géraldine Favrais, Géraldine Gascoin, Sandie Cabon, Fabienne Porée, Guy Carrault, Patrick Pladys   +9 more
wiley   +1 more source

Agenesia parcial de pericardio

Cirugía Cardiovascular, 2009
Los defectos congénitos del pericardio son infrecuentes, generalmente asintomáticos, y se descubren como hallazgos casuales en autopsias o en in tervenciones por otro tipo de enfermedad. En raras ocasiones sí producen síntomas en relación con herniación o estrangulamiento del corazón.Presentamos un caso poco frecuente de agenesia parcial del pericardio
María Ángeles Gutiérrez-Martín, Omar A. Araji, Carlos J. Velázquez, Mariano García-Borbolla, José M. Barquero, Carlos A. Infantes   +5 more
openaire   +2 more sources

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Impacto de la agenesia de incisivos laterales maxilares en la oclusión: revisión bibliográfica

International Journal of Interdisciplinary Dentistry
Objetivo: describir el impacto de la agenesia no sindrómica de incisivos laterales maxilares permanentes en la oclusión. Material y método: se realizó una búsqueda de la evidencia disponible de manera electrónica en las bases de datos PubMed, Cochrane ...
Ignacia Cuellar-Chaparro, Mabel López-Reyes, Paulina Espinoza-Jiménez   +2 more
doaj   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source