Search results for " malformation"
showing 10 items of 185 documents
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.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
2019
Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…
Characteristics of mucocutaneous vascular malformations drawn from a decade of a multidisciplinary committee experience.
2021
Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over previous years may hamper a correct diagnosis. The main objective of this study is to describe VM epidemiology. As a secondary endpoint we evaluate clinical characteristics, clinical-radiological correlation and treatment approaches. We carried out an observational, descriptive, retrospective study. Cases presented to the multidisciplinary committee of our h…
Primary myelomeningocele closure and consequences
2002
Myelomeningocele, the most frequently occurring open neural tube defect, requires lifelong care of the patient by medical professionals and by relatives. A basic understanding of the neurosurgical measures that have to be taken in the newborn, the infant, the child and the adult is important also for physicians of other disciplines involved in the treatment of patients with myelomeningocele.The most recent topic broadly discussed in this context is the role of foetal neurosurgery for closure of the neural tube defect. There is ongoing debate as to whether the beneficial postnatal effects of a prenatal operation in the unborn foetus outweighs the possible complications for the mother as well…