Epidemiological study of gastroenteritis cases at the medical-social centre of Megara

Pnrpose: Epidemiological study of the possible causes and characteristics of gastroenteritis cases, recorded at the area of concern of the medical- social centre of Megara. Material- Method: The material of the study consisted of adults who came to the centre during the period January 2007 until December 2008 and were diagnosed with gastroenteritis. All patients with chronic inflamational bowel disease as well as patients having taken recently antibiotics were excluded. All patients came with symptoms of gastroenteritis i.e. vomits, diarrhea, abdominal pain, fever, debilitation

Clinical, Neuroimaging, and Genetic Markers in Cerebral Amyloid Angiopathy-Related Inflammation: A Systematic Review and Meta-Analysis

Background: There are limited data regarding the prevalence of distinct clinical, neuroimaging and genetic markers among patients diagnosed with cerebral amyloid angiopathy-related inflammation (CAA-ri). We sought to determine the prevalence of clinical, radiological, genetic and cerebrospinal fluid biomarker findings in patients with CAA-ri. Methods: A systematic review and meta-analysis of published studies including patients with CAA-ri was conducted to determine the prevalence of clinical, neuroimaging, genetic and cerebrospinal fluid biomarker findings. Subgroup analyses were performed based on (1) prospective or retrospective study design and (2) CAA-ri diagnosis with or without available biopsy. We pooled the prevalence rates using random-effects models and assessed the heterogeneity using Cochran-Q and I2-statistics. Results: We identified 4 prospective and 17 retrospective cohort studies comprising 378 patients with CAA-ri (mean age, 71.5 years; women, 52%). The pooled prevalence rates were as follows: cognitive decline at presentation 70% ([95% CI, 54%-84%]; I2=82%), focal neurological deficits 55% ([95% CI, 40%-70%]; I2=82%), encephalopathy 54% ([95% CI, 39%-68%]; I2=43%), seizures 37% ([95% CI, 27%-49%]; I2=65%), headache 31% ([95% CI, 22%-42%]; I2=58%), T2/fluid-attenuated inversion recovery-hyperintense white matter lesions 98% ([95% CI, 93%-100%]; I2=44%), lobar cerebral microbleeds 96% ([95% CI, 92%-99%]; I2=25%), gadolinium enhancing lesions 54% ([95% CI, 42%-66%]; I2=62%), cortical superficial siderosis 51% ([95% CI, 34%-68%]; I2=77%) and lobar macrohemorrhage 40% ([95% CI, 11%-73%]; I2=88%). The prevalence rate of the ApoE (Apolipoprotein E) ϵ4/ϵ4 genotype was 34% ([95% CI, 17%-53%]; I2=76%). Subgroup analyses demonstrated no differences in these prevalence rates based on study design and diagnostic strategy. Conclusions: Cognitive decline was the most common clinical feature. Hyperintense T2/fluid-attenuated inversion recovery white matter lesions and lobar cerebral microbleeds were by far the most prevalent neuroimaging findings. Thirty-four percent of patients with CAA-ri have homozygous ApoE ϵ4/ϵ4 genotype and scarce data exist regarding the cerebrospinal fluid biomarkers and its significance in these patients

Hazard characterization of Alternaria toxins to identify data gaps and improve risk assessment for human health

Fungi of the genus Alternaria are ubiquitous plant pathogens and saprophytes which are able to grow under varying temperature and moisture conditions as well as on a large range of substrates. A spectrum of structurally diverse secondary metabolites with toxic potential has been identified, but occurrence and relative proportion of the different metabolites in complex mixtures depend on strain, substrate, and growth conditions. This review compiles the available knowledge on hazard identification and characterization of Alternaria toxins. Alternariol (AOH), its monomethylether AME and the perylene quinones altertoxin I (ATX-I), ATX-II, ATX-III, alterperylenol (ALP), and stemphyltoxin III (STTX-III) showed in vitro genotoxic and mutagenic properties. Of all identified Alternaria toxins, the epoxide-bearing analogs ATX-II, ATX-III, and STTX-III show the highest cytotoxic, genotoxic, and mutagenic potential in vitro. Under hormone-sensitive conditions, AOH and AME act as moderate xenoestrogens, but in silico modeling predicts further Alternaria toxins as potential estrogenic factors. Recent studies indicate also an immunosuppressive role of AOH and ATX-II; however, no data are available for the majority of Alternaria toxins. Overall, hazard characterization of Alternaria toxins focused, so far, primarily on the commercially available dibenzo-α-pyrones AOH and AME and tenuazonic acid (TeA). Limited data sets are available for altersetin (ALS), altenuene (ALT), and tentoxin (TEN). The occurrence and toxicological relevance of perylene quinone-based Alternaria toxins still remain to be fully elucidated. We identified data gaps on hazard identification and characterization crucial to improve risk assessment of Alternaria mycotoxins for consumers and occupationally exposed workers.The European Partnership for the Assessment of Risks from Chemicals has received funding from the European Union’s Horizon Europe research and innovation program under Grant Agreement No 101057014 and has received co-funding of the authors’ institutions. Views and opinions expressed are, however, those of the author(s) only and do not necessarily reflect those of the European Union or the Health and Digital Executive Agency. Neither the European Union nor the granting authority can be held responsible for them.info:eu-repo/semantics/publishedVersio

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Epidemiological study of gastroenteritis cases at the medical-social centre of Megara

Pnrpose: Epidemiological study of the possible causes and characteristics of gastroenteritis cases, recorded at the area of concern of the medical- social centre of Megara. Material- Method: The material of the study consisted of adults who came to the centre during the period January 2007 until December 2008 and were diagnosed with gastroenteritis. All patients with chronic inflamational bowel disease as well as patients having taken recently antibiotics were excluded. All patients came with symptoms of gastroenteritis i.e. vomits, diarrhea, abdominal pain, fever, debilitation.</p

The nature, frequency and value of stimulation induced seizures during extraoperative cortical stimulation for functional mapping

Purpose: The aim of this retrospective service evaluation was to determine the nature, frequency and clinical value of seizure occurrence during extraoperative direct cortical stimulation for functional mapping in patients undergoing invasive recordings (icEEG) for epilepsy surgery workup. Methods: We reviewed 145 sequential cases of patients with refractory focal epilepsy who underwent intracranial electrode implantation and extraoperative direct cortical stimulation (CS) for functional mapping. CS intended for mapping can elicit as a by-product electrical or electroclinical events, such as afterdischarges, subclinical EEG seizures, and stimulation-induced seizures (SIS). SIS may have habitual or non-habitual semiology (as defined by comparison to the patient’s spontaneous events). Results: In our cohort, electrical (subclinical EEG seizures) or electroclinical events, (SIS) were recorded in 34.5% (50/145) patients during CS. SIS occurred in 23.4% (34/145) of all patients, of which over half were habitual SIS (SIShab). In most cases the location of contacts eliciting habitual SIS originated from the same location as the spontaneous ictal onset zone in icEEG. Of those with SIS hab undergoing surgery (n = 13), seizure freedom was achieved in 61.5%, and of those with SISNH undergoing surgery (n = 10), 40% became seizure free (ns). Conclusions: Electroclinical SIS occur in about a quarter of CS for functional mapping; SIS are habitual in the majority of cases, and where elicited, SIS in icEEG could be an additional diagnostic tool to localize the seizure onset zone. However, a significant minority of stimulations lead to non-habitual SIS

The Efficacy and Safety of Ketogenic Diets in Drug-Resistant Epilepsy in Children and Adolescents: a Systematic Review of Randomized Controlled Trials

Purpose of Review: Drug-resistant epilepsy represents around one-quarter of epilepsies worldwide. Although ketogenic diets (KD) have been used for refractory epilepsy since 1921, the past 15 years have witnessed an explosion of KD use in the management of epilepsy. We aimed to review evidence from randomized controlled trials (RCTs) regarding the efficacy and safety of KD in drug-resistant epilepsy in children and adolescents. Recent Findings: A literature search was performed in the Pubmed, Cohrane, Scopus, ClinicalTrials.gov, and Google Scholar databases. Predefined criteria were implemented regarding data extraction and study quality. Data were extracted from 14 RCTs in 1114 children and adolescents aged from 6 months to 18 years. Primary outcome was seizure reduction after the intervention. In 6 out of the 14 studies, there was a statistical significant seizure reduction by &gt; 50% in the KD-treated group compared with the control group over a follow-up of 3–4 months. Secondary outcomes were adverse events, seizure severity, quality of life, and behavior. Gastrointestinal symptoms were the most frequent adverse events. Serious adverse events were rare. Summary: We conclude that the KD is an effective treatment for drug-resistant epilepsy in children and adolescents. Accordingly, RCTs investigating long-term impact, cognitive and behavioral effects, and cost-effectiveness are much anticipated. © 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature

Paediatric international travellers from Greece: Characteristics and pre-travel recommendations

The aim of this study was to describe the children who seek pre-travel advice in Greece. During 2008-2010, 4065 persons sought pre-travel services in the 57 Prefectures, including 128 (3.15%) children &lt;15 years. Main travel destinations were sub-Saharan Africa (54 children; 42.2%), South America (18; 14.1%), the Middle East (16; 12.5%), the Indian subcontinent (12; 9.4%), and South East Asia (7; 5.5%). Seventy-six children (59.4%) stayed for &lt;1 month, 34 (26.6%) for 1-6 months, and 10 (7.8%) for &gt;6 months. Recreation was the main purpose of travel (81 children; 63.3%), followed by work (24; 18.8%), and to visit friends and relatives (VFRs) (14; 10.9%). Paediatric travellers VFRs stayed more frequently in local residences compared to non-VFR paediatric travellers (85.7% and 20.2%). Children stayed more frequently in local residences and travelled more frequently for recreational purposes or to VFRs (27.3%, 63.3%, and 10.9%, respectively), compared to older travellers (11.9%, 58.8%, and 4%, respectively). Malaria chemoprophylaxis was prescribed for 64.8% of children travelling to sub-Saharan Africa. This study demonstrated clearly that only a very small number of international paediatric travellers seek pre-travel services in Greece. Communication strategies to access paediatric travellers should be developed in order to improve travel medicine services for children in Greece. © 2012 Elsevier Ltd. All rights reserved

A probable role of copper in the comorbidity in Wilson's and Creutzfeldt-Jakob's Diseases: A case report

Background: To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson's and Creutzfeldt-Jakob disease (CJD), linked through copper. Case presentation: A 44-year-old male with a history of inherited Wilson's disease (hepatolenticular degeneration), which manifested as mild liver injury and psychiatric symptoms, was admitted to our department due to speech and cognitive disturbances. Upon his admission, he had motor aphasia as well as psychomotor retardation with an otherwise normal neurological examination. Laboratory tests, including liver enzymes, copper and serum ammonia were all within normal range. The brain MRI showed increased T2 signal in the caudate nuclei, attributed to copper deposition in the context of Wilson's disease. In the electroencephalogram, periodic sharp discharges were eminent, initially unilateral and then generalized. The positive 14-3-3 protein in the cerebrospinal fluid (CSF) and the new brain MRI, that demonstrated elevated DWI signal not only in the basal ganglia but also in parts of the cerebral cortex (cortical ribbon sign), all supportive of a possible CJD diagnosis. The detection of PrPSc in the patient's CSF, using the RT-QuIC method, which has a 99.4-100% specificity for CJD, made the diagnosis of CJD highly probable. Conclusion: This is the first report of Wilson's and Creutzfeldt-Jakob diseases co-morbidity in the literature, which could evoke a possible role of copper in the pathogenesis of CJD. © 2020 The Author(s)