Search results for "malformation"

Evaluation of Anal Sphincter with High Resolution Anorectal Manometry and 3D Reconstruction in Patients with Anorectal Malformation

2023

Background: Patients with anorectal malformation (ARM) need long-term follow-up, in order to evaluate fecal continence; the main predictors of longer-term success are the type of ARM, associated anomalies and sacral integrity. Three-Dimensional High Resolution Anorectal Manometry (3D-HRAM) gives detailed information on pressure on the anal complex profile. Our objective was to analyze anal sphincter activity in ARM patients with 3D-HRAM establishing the correlation between manometric and clinical data. Methods: Forty ARM patients were submitted to 3D-HRAM: manometric, anatomical and clinical scores were correlated with each other and with the bowel management response (BM). Results: A posit…

Reply of the Authors: Hysteroscopic resection of the uterine septum: is it always a necessity?

2009

[No abstract available]

Health of immigrant children: Congenital disease

2008

Antler Malformations of Cervidae Species in Opole Voivodeship

2017

Hunting Law regulations strictly determines which males of quarry species may be harvested during the season. The age and the antlers of the individual play here an important role. The exceptions are the individuals with malformed and long spiked antlers, that is in a form significantly different from the desirable forms described in guidelines by the Chief Hunting Council. Anomalies in shape, structure and size of antlers are obligatory condition for harvesting the individual. It is generally accepted that such individuals are weaker, less valuable, have defective genes, are sick or injured, and are dangerous for conspecific during the rut. The scientific explanations for the development o…

Malformación de Arnold-Chiari: la pérdida de la sonrisa

2014

La Malformación de Arnold-Chiari es una enfermedad rara caracterizada por la presencia de síntomas insidiosos que pueden suponer un retraso en el diagnóstico. Las características sintomatológicas como el dolor, la pérdida de fuerza progresiva, los mareos, etc., junto con los efectos secundarios de los fármacos indicados para el tratamiento sintomático (anticonvulsionantes, antidepresivos, analgésicos, etc.) supone una pérdida de la calidad de vida de la persona. Aspectos de la calidad de vida que en un entorno biomédico suelen pasar desapercibidos, y juntamente, con la falta de repercusión exterior de la patología, supone la incomprensión de las personas del entorno. Con el fin de poder con…

Noninvasive diagnostic techniques of port wine stain.

2021

Port-wine stain (PWS) is a benign capillary malformation that most commonly occurs in the head and neck. It is present at birth and progresses over time. It is formed by progressive dilatation of post-capillary venules and is associated with hypertrophy and nodularity with increasing age, leading to cosmetic disfigurement and psychological aggravation. It is caused by genetic mosaicism in GNAQ and GNA11 genes. Histopathology is the gold standard for assessment of PWS but it is invasive and may cause scarring. Inadequate characterization of the lesions may predispose to inadequate treatment protocols as well as higher treatment dosages. Clinical evaluation of treatment efficacy is subjective…

Minimally Invasive Surgery for Decompression in Chiari I Malformation

2019

Chiari malformations (CMs) includes different pathologies sharing common anatomic deformities of the brainstem and cerebellum. CM type I was originally introduced by Hans Chiari and described as an “elongation of the tonsils and the medial parts of the inferior lobes of the cerebellum into cone-shaped projections which accompany the medulla oblongata into the spinal canal.” The prevalence of CM has been estimated to be between 0.1% and 0.5%, but it is possible that higher rates will be identified since the increasing the use of magnetic resonance imaging (MRI) in common clinical practice. Clinical studies have shown an equal prevalence in both sexes without particular ethnic or geographic d…

Abnormalities of the umbilico-portal venous system in Down syndrome: A report of two new patients

2003

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt…

Orofacial clinical features in Arnold Chiari type I malformation: A case series

2017

Background Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. Material and methods A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of…

Stereotactic Radiotherapy plus Radiosurgical Boost in the Treatment of Large Cerebral Arteriovenous Malformations

1993

Small sized AVMs respond well to stereotactic radiosurgery, while larger AVMs do poorly with stereotactic radiosurgery or stereotactic fractionated radiotherapy. A combination of both methods is proposed for the treatment of these larger lesions.