Search results for "EB"
showing 10 items of 15658 documents
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
2017
AbstractPreviously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10−08). A meta-analysis of rs6874700 of our previous and prese…
Imaging features of perineural and perivascular spread in rapidly progressive rhino-orbital-cerebral mucormycosis: A case report and brief review of …
2021
Background: Rhinocerebral mucormycosis (ROCM) is an opportunistic fungal infection originating from the paranasal sinuses with extension to the brain. A delayed diagnosis can rapidly result in a poor prognosis. ROCM commonly affects patients with diabetes or immunocompromised states with a variable progression. Case Description: We report the case of a 59-year old patient with an untreated diabetes who developed a ROCM with rapidly progressive neurological symptoms. From the onset of sinus pain, nasal congestion, he rapidly developed facial swelling and masticatory dysfunction. The patient underwent sinus surgery which allowed Rhizopus oryzae to be isolated. Accordingly, a systemic therapy…
Optogenetically enhanced pituitary corticotroph cell activity post-stress onset causes rapid organizing effects on behaviour
2016
The anterior pituitary is the major link between nervous and hormonal systems, which allow the brain to generate adequate and flexible behaviour. Here, we address its role in mediating behavioural adjustments that aid in coping with acutely threatening environments. For this we combine optogenetic manipulation of pituitary corticotroph cells in larval zebrafish with newly developed assays for measuring goal-directed actions in very short timescales. Our results reveal modulatory actions of corticotroph cell activity on locomotion, avoidance behaviours and stimulus responsiveness directly after the onset of stress. Altogether, the findings uncover the significance of endocrine pituitary cell…
Vancomycin resistant Enterococcus faecium (VRE) vertebral osteomyelitis after uneventful spinal surgery: A case report and literature review
2017
Abstract Objective Case report and literature review. Background Enterococcus faecium is an emerging pathogen responsible for post procedural infections in patients who have undergone spinal decompression surgery. In this case report, the authors discuss and review recent literature on approaches to post-operative spinal infection. Case report We herein report the case of a 55-year-old HIV-negative Caucasian Italian woman who showed vertebral osteomyelitis with abscesses around the interbody cage caused by an Enterococcus faecium vancomycin resistant gen-Van A, following a Transforaminal Lumbar Interbody Fusion (TLIF). The same strain was detected in disc biopsy, urine culture and rectal sw…
The Unsolved Conundrum of Optimal Blood Pressure Target During Acute Haemorrhagic Stroke: A Comprehensive Analysis
2019
Intracerebral haemorrhage (ICH) is a devastating cerebrovascular disease, which accounts to 15% of all strokes. Among modifiable risk factors for ICH, hypertension is the most frequent. High blood pressure (BP) is detected in more than 75–80% of patients with ICH. Extremely elevated BP has been associated with early hematoma growth, a relatively frequent occur-rence and powerful predictor of poor outcome in patients with spontaneous ICH. On the other hand, excessively low BP might cause cerebral hypoperfusion and ultimately lead to poor outcome. This review will analyse the most important trials that have tried to establish how far should BP be lowered during acute ICH. These trials have de…
Successful management of a cerebral abscess secondary to chronic cholesteatoma caused by Prevotella melaninogenica and Peptococcus anaerobius – A cas…
2016
Abstract Cerebral abscess following cholesteatomatous otomastoiditis is a life-threatening complication and poses diagnostic and therapeutic challenges. We report a case of life-threatening cerebritis and cerebral abscess due to a collection of pus from an aerobic super infections occurring months after the apparent resolution of an otogenic brain abscess in a 67-year-old immunocompetent Italian female. Two gram-positive anaerobic pathogens were isolated during secondary neurosurgical procedures and antibiotic treatment was adopted to resolve the complications. Another objective of this study was to review the literature on gram-positive anaerobic pathogens and brain abscess complications i…
Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients.
2017
Main symptom of mucopolysaccharidosis type IVa (MPS IVa) is progressive systemic skeletal dysplasia. This is routinely monitored by cerebral and spinal MRI. The vascular system is generally not in the primary focus of interest. In our population of MPS IVa patients we observed vessel shape alterations of the vertebrobasilar arteries, which has not been described before.MRI-datasets of 26 patients with MPS IVa acquired between 2008 and 2015 were eligible for retrospective analysis of the vertebrobasilar arteries. The vessel length and angle of the basilar artery (BA) and both vertebral arteries (VA) were analyzed. A deflection angle between 90° and 130° in the vessel course was defined as to…
Can mild cognitive impairment be stabilized by showering brain mitochondria with laser photons?
2019
There is now substantial evidence that cerebral blood flow (CBF) declines with age. From age 20 to 60, CBF is estimated to dip about 16% and continues to drop at a rate of 0.4%/year. This CBF dip will slowly reduce oxygen/glucose delivery to brain thus lowering ATP energy production needed by brain cells to perform normal activities. Reduced ATP production from mitochondrial loss or damage in the wear-and-tear of aging worsens when vascular risk factors (VRF) to Alzheimer's disease develop that can accelerate both age-decline CBF and mitochondrial deficiency to a level where mild cognitive impairment (MCI) develops. To date, no pharmacological or any other treatment has been successful in r…
Magnesium and health outcomes: An umbrella review of systematic reviews and meta-analyses of observational and intervention studies
2020
Purpose: To map and grade all health outcomes associated with magnesium (Mg) intake and supplementation using an umbrella review. Methods: Umbrella review of systematic reviews with meta-analyses of observational studies and randomized controlled trials (RCTs) using placebo/no intervention as control group. We assessed meta-analyses of observational studies based on random-effect summary effect sizes and their p values, 95% prediction intervals, heterogeneity, small-study effects and excess significance. For meta-analyses of RCTs, outcomes with a random-effect p value < 0.005 and a high-GRADE assessment were classified as strong evidence. Results: From 2048 abstracts, 16 meta-analyses an…
Systematic review of guidelines for internal validity in the design, conduct and analysis of preclinical biomedical experiments involving laboratory …
2020
Over the last two decades, awareness of the negative repercussions of flaws in the planning, conduct and reporting of preclinical research involving experimental animals has been growing. Several initiatives have set out to increase transparency and internal validity of preclinical studies, mostly publishing expert consensus and experience. While many of the points raised in these various guidelines are identical or similar, they differ in detail and rigour. Most of them focus on reporting, only few of them cover the planning and conduct of studies. The aim of this systematic review is to identify existing experimental design, conduct, analysis and reporting guidelines relating to preclinic…