Search results for " malformations"
showing 10 items of 94 documents
Multiple Congenital Colonic Stenosis: Case Report and Review of the Literature
2015
Congenital malformations affecting the colon are rare pediatric conditions often presenting as obstruction. Colonic atresia accounts for 5-‐10% of atresia in newborns, stenosis is even more rare.Since 1968, only 16 cases of CCS have been reported in literature (Table 1). Because of the rarity of the disease, little is known about this uncommon condition and management is still controversial. We present a case of multiple congenital colonic stenosis and review the literature with a special focus on management of CCS. To the authors' knowledge, multiple congenital colonic stenosis has not been reported previously in the literature.
ROLE OF ENDOVASCULAR EMBOLIZATION IN THE MULTIDISCIPLINARY MANAGEMENT OF RUPTURED BRAIN ARTERIOVENOUS MALFORMATIONS
2022
Brain arteriovenous malformations (bAVMs) are congenital defects of vasculogenesis, the natural history of which is characterized by a significant morbidity and mortality related to the risk of bleeding. Their management remains challenging, since complete eradication is often difficult. Embolization, surgery, or radiosurgery alone are safe and effective for small unruptured AVMs, while a multidisciplinary approach should be pursued for larger ones. We report a case of intracerebral haemorrhage due to the rupture of a large bAVM, for which a multidisciplinary approach was adopted: endovascular partial embolization followed by complete surgical removal.
Malformations of central nervous system: General issues
2013
Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease management
Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility
2020
Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is remaining variability. Perfect clones raised under well controlled laboratory conditions fulfill the conditions for such a test. Carried out for four different species, the test reveals a variability remainder of the order of 10%-20% in terms of coefficient of variation. As an example, the CV of the volume of E.coli bacteria immediately after…
Prevalence of extracranial venous abnormalities: results from a sample of 586 multiple sclerosis patients
2011
The aim of this study was to assess the prevalence of chronic cerebrospinal venous insufficiency in an unselected cohort of multiple sclerosis (MS) patients. A total of 586 patients with clinically defined MS underwent catheter venography of the internal jugular veins, brachiocephalic veins and azygos vein. The following findings were regarded as pathologic: no outflow, slowed outflow, reversal of flow direction, prestenotic dilation accompanied by impaired outflow, outflow through collaterals, intraluminal structures obstructing the vein, hypoplasia, agenesia or significant narrowing of the vein. Venous abnormalities were found in 563 patients (96.1%). Lesions in one vein were found in 43.…
Chronic cerebrospinal venous insufficiency: state of the art and research challenges
2012
This review discusses a potential vascular basis for multiple sclerosis (MS). The idea that MS could be related to vascular disease is not new, with the first reports describing connections between veins and MS plaques dating from the 19th century. The venous abnormalities found in MS patients, the socalled chronic cerebrospinal venous insufficiency, are currently interpreted as congenital venous malformations. Catheter venography is regarded as the gold standard to assess these lesions, while other tests, such as Doppler sonography and magnetic resonance venography, are much less accurate. Importantly, a relationship between venous pathologies and MS has not yet been proven, especially reg…
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…
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…
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.
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…