Search results for "MALFORMATIONS"
showing 10 items of 113 documents
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…
Heat shock factor 2 is a stress-responsive mediator of neuronal migration defects in models of fetal alcohol syndrome
2014
Fetal alcohol spectrum disorder (FASD) is a frequent cause of mental retardation. However, the molecular mechanisms underlying brain development defects induced by maternal alcohol consumption during pregnancy are unclear. We used normal and Hsf2-deficient mice and cell systems to uncover a pivotal role for heat shock factor 2 (HSF2) in radial neuronal migration defects in the cortex, a hallmark of fetal alcohol exposure. Upon fetal alcohol exposure, HSF2 is essential for the triggering of HSF1 activation, which is accompanied by distinctive post-translational modifications, and HSF2 steers the formation of atypical alcohol-specific HSF1–HSF2 heterocomplexes. This perturbs the in vivo bindi…
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…
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
2014
Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)(1-3). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de novo mutations in CCND2 (encoding cyclin D2) that are clustered around a residue that can be phosphorylated by glycogen synthase kinase 313 (GSK-3 beta)(4). Mutant CCND2 was resistant to proteasomal degradation in vitro compared to wild-type CCND2. The PI3K-AKT pathway modulates GSK-3 beta activity(4), and cells from individuals with PIK3CA, PIK3R2 or AKT3 mutations showed similar CCND2 accumulation. CCND…
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…
Outcome of pregnancy in type 1 diabetic patients treated with insulin lispro or regular insulin: an Italian experience.
2008
Some studies have shown that fetal outcome observed in patients using insulin lispro is much the same as in pregnant women using regular insulin. This study aims to analyze the Italian data emerging from a multinational, multicenter, retrospective study on mothers with type 1 diabetes mellitus before pregnancy, comparing those treated with insulin lispro for at least 3 months before and 3 months after conception with those treated with regular insulin. The data collected on pregnant women with diabetes attending 15 Italian centers from 1998 to 2001 included: HbA1c at conception and during the first and third trimesters, frequency of severe hypoglycemic episodes, spontaneous abortions, mode …