Search results for "Malformation"

Hypoplasia of the posterior mitral valve leaflet: Don't forget to look beyond the mitral valve.

2020

Hypoplasia of the posterior mitral valve leaflet (PMVL) is a very rare finding in adulthood and can coexist with other congenital heart defects. In this image, a transesophageal echocardiography (TOE) carried out on a 59-year-old woman with a 2-month history of dyspnea revealed a hypoplastic PMVL causing severe mitral regurgitation associated with a secundum-type atrial septal defect (ASD) with left-to-right shunting. This case demonstrates how essential 3-dimensional TOE is for a comprehensive assessment of the mitral valve and to improve the diagnostic accuracy of concomitant congenital heart abnormalities.

Small-diameter hysteroscopy with Versapoint versus resectoscopy with a unipolar knife for the treatment of septate uterus: A prospective randomized s…

2007

Abstract Study objective To compare 2 procedures for metroplasty: resectoscopy with monopolar knife versus small-diameter hysteroscopy fitted with a Versapoint device. Design Prospective randomized study (Canadian Task Force classification I). Setting Endoscopic gynecology units at tertiary care university hospitals. Patients One hundred-sixty patients with septate uterus and a history of recurrent abortion or primary infertility undergoing hysteroscopic metroplasty from 2001 to 2005. Interventions Hysteroscopic resection of the uterine septum performed with either a 26F resectoscope with unipolar knife (80 women, group A) or a 5-mm diameter hysteroscope with Versapoint device (80 women, gr…

Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.

2011

This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities. Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment. Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnet…

Does endovascular treatment with curative intention have benefits for treating High-grade AVM versus radiosurgery? Efficacy, safety, and cost-effecti…

2021

BACKGROUND: The treatment of high-grade arteriovenous malformations (AVMs) remains challenging. Microsurgery provides a rapid and complete occlusion compared to other options, but is associated with undesirable morbidity and mortality. The aim of this study was to compare the occlusion rates, incidence of unfavorable outcomes, and cost-effectiveness of embolization and stereotactic radiosurgery (SRS) as a curative treatment for high-grade AVMs.METHODS: A retrospective series of 57 consecutive patients with high-grade AVM treated with embolization or SRS, with the aim of achieving complete occlusion, was analyzed. Demographic, clinical, and angio-architectonic variables were collected. Both …

A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations

2022

A newnborn admitted to NICU showed a severe clinical profile

RGB imaging system for monitoring of skin vascular malformation's laser therapy

2012

A prototype RGB imaging system for mapping of skin chromophores consists of a commercial RGB CMOS sensor, RGB LEDs ring-light illuminator and orthogonally orientated polarizers for reducing specular reflectance. The system was used for monitoring of vascular malformations (hemagiomas and telangiectasias) therapy.

Vascular Malformation of the Central Nervous System

2022

Lissencephalic syndromes: brain and beyond

2009

Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It encompasses a group of syndromes which show many different clinical conditions. Four groups are actually distinguished: classic lissencephaly variants, other lissencephalies including forms with unknown pathogenesis, microlissencephaly spectrum and Cobblestone cortical malformations. Several genes and proteins are involved in this syndromic spectrum and each year new mol…

Three-dimensional color power angiography of an aneurysm of the vein of Galen

2000

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

1999

SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …