Krvácanie z pažerákových varixov je u pacientov s portálnou hypertenziou spájané s vysokou mortalitou. Títo pacienti sa k zdravotnej starostlivosti často dostávajú prostredníctvom ambulancií záchrannej služby a príjmových ambulancií nemocníc. K endoskopickému riešeniu sa však často dostanú až po niekoľkých hodinách. V situáciách prednemocničnej a neodkladnej nemocničnej starostlivosti, kedy kriticky chorý pacient nereaguje na farmakologickú liečbu je potrebné zvážiť prechodné riešenie. Na tento účel je dnes k dispozícii Sengstaken-Blakemorová sonda (a jej rôzne varianty) alebo pažerákový stent (Danišov stent). Účelom tohto prehľadu bolo nájsť a popísať informácie o použiteľnosti pažerákového stentu v kritických situáciách urgentnej starostlivosti (pri nereagujúcej farmakologickej liečbe a časovej nedostupnosti akútneho endoskopického riešenia). Do prehľadu boli zahrnuté publikácie od roku 2010. Súčasné štúdie, ktoré popisujú klinické údaje o Danišovom stente, sú však zamerané na situácie po zlyhaní predchádzajúcej liečby. Chýbajú tak priame klinické údaje o využití tejto metódy pred endoskopickou intervenciou. Dostupné klinické štúdie a doporučené postupy v danej oblasti však uvádzajú, že Danišov stent vo všeobecnosti dosahuje lepší pomer prínosov a rizík a takisto aj lepšiu nákladovú efektivitu v porovnaní so Sengstaken-Blakemorovou sondou. V budúcnosti by boli vhodné ďalšie štúdie, ktoré by poskytli klinické údaje o použití pažerákového stentu ako primárneho riešenia život ohrozujúcich stavov bez predchádzajúcich intervencií.

Bleeding from esophageal varices is associated with high mortality in patients with portal hypertension. These patients often get access to health care through ambulances of the emergency service and emergency departments of hospitals. However, it often takes several hours to get the endoscopic treatment. In situations of pre-hospital and urgent hospital care, when a critically ill patient does not respond to pharmacological treatment, it is necessary to consider a temporary solution. For this purpose, a Sengstaken- Blakemore tube (and its variants) or an esophageal stent (Danis stent) are available today. The purpose of this review was to find and describe the information on the esophageal stent applicability in critical situations of urgent care (when pharmacological treatment failed, and acute endoscopic solution is temporarily unavailable). Publications since 2010 were included in the review. However, the current studies describing clinical data on Danis stent are focused on situations after failure of previous treatment. Thus, there is a lack of direct clinical data on the use of this method before endoscopic intervention. However, available clinical studies and guidelines in the field indicate that the Danis stent generally achieves a better benefit-risk ratio and also better cost-effectiveness compared to the Sengstaken–Blakemore tube. Future studies would be useful to provide clinical data on esophageal stenting as a primary treatment for life-threatening conditions without prior intervention.

• MeSH
• Balloon Occlusion methods   instrumentation   adverse effects   MeSH
• Esophageal and Gastric Varices * therapy   MeSH
• Clinical Studies as Topic statistics & numerical data   MeSH
• Hemorrhage therapy   MeSH
• Humans MeSH
• Stents * MeSH
• Information Storage and Retrieval methods   MeSH
• Check Tag
• Humans MeSH

• MeSH
• Opioid-Related Disorders prevention & control   psychology   therapy   MeSH
• Substance-Related Disorders prevention & control   psychology   therapy   MeSH
• Family Therapy MeSH
• Codependency, Psychological MeSH
• Parent-Child Relations MeSH

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous group of inherited disorders manifesting with sensorineural hearing loss and pigmentary anomalies. Here we present two Caucasian families with novel variants in EDNRB and SOX10 representing both sides of phenotype spectrum in WS. The c.521G>A variant in EDNRB identified in Family 1 leads to disruption of the cysteine disulfide bridge between extracellular segments of endothelin receptor type B and causes relatively mild phenotype of WS type II with low penetrance. The novel nonsense variant c.900C>A in SOX10 detected in Family 2 leads to PCWH syndrome and was found to be lethal.

• MeSH
• Phenotype MeSH
• Humans MeSH
• Mutation MeSH
• Receptor, Endothelin B genetics   MeSH
• Syndrome MeSH
• SOXE Transcription Factors genetics   MeSH
• Waardenburg Syndrome * genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

• Publication type
• Published Erratum MeSH

Sarcopenia is a serious systemic disease that reduces overall survival. TAVI is selectively performed in patients with severe aortic stenosis who are not indicated for open cardiac surgery due to severe polymorbidity. Artificial intelligence-assisted body composition assessment from available CT scans appears to be a simple tool to stratify these patients into low and high risk based on future estimates of all-cause mortality. Within our study, the segmentation of preprocedural CT scans at the level of the lumbar third vertebra in patients undergoing TAVI was performed using a neural network (AutoMATiCA). The obtained parameters (area and density of skeletal muscles and intramuscular, visceral, and subcutaneous adipose tissue) were analyzed using Cox univariate and multivariable models for continuous and categorical variables to assess the relation of selected variables with all-cause mortality. 866 patients were included (median(interquartile range)): age 79.7 (74.9-83.3) years; BMI 28.9 (25.9-32.6) kg/m2. Survival analysis was performed on all automatically obtained parameters of muscle and fat density and area. Skeletal muscle index (SMI in cm2/m2), visceral (VAT in HU) and subcutaneous adipose tissue (SAT in HU) density predicted the all-cause mortality in patients after TAVI expressed as hazard ratio (HR) with 95% confidence interval (CI): SMI HR 0.986, 95% CI (0.975-0.996); VAT 1.015 (1.002-1.028) and SAT 1.014 (1.004-1.023), all p < 0.05. Automatic body composition assessment can estimate higher all-cause mortality risk in patients after TAVI, which may be useful in preoperative clinical reasoning and stratification of patients.

• MeSH
• Muscle, Skeletal MeSH
• Humans MeSH
• Subcutaneous Fat MeSH
• Retrospective Studies MeSH
• Sarcopenia * MeSH
• Aged MeSH
• Body Composition physiology   MeSH
• Adipose Tissue MeSH
• Artificial Intelligence MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Publication type
• Journal Article MeSH

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms. Here, we present Phenopacket Store. Phenopacket Store v.0.1.19 includes 6,668 phenopackets representing 475 Mendelian and chromosomal diseases associated with 423 genes and 3,834 unique pathogenic alleles curated from 959 different publications. This represents the first large-scale collection of case-level, standardized phenotypic information derived from case reports in the literature with detailed descriptions of the clinical data and will be useful for many purposes, including the development and testing of software for prioritizing genes and diseases in diagnostic genomics, machine learning analysis of clinical phenotype data, patient stratification, and genotype-phenotype correlations. This corpus also provides best-practice examples for curating literature-derived data using the GA4GH Phenopacket Schema.

• MeSH
• Algorithms MeSH
• Databases, Genetic MeSH
• Phenotype * MeSH
• Genomics * methods   MeSH
• Humans MeSH
• Software * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

Streptococcus pneumoniae serotype 1 (ST1) was an important cause of invasive pneumococcal disease (IPD) globally before the introduction of pneumococcal conjugate vaccines (PCVs) containing ST1 antigen. The Pneumococcal Serotype Replacement and Distribution Estimation (PSERENADE) project gathered ST1 IPD surveillance data from sites globally and aimed to estimate PCV10/13 impact on ST1 IPD incidence. We estimated ST1 IPD incidence rate ratios (IRRs) comparing the pre-PCV10/13 period to each post-PCV10/13 year by site using a Bayesian multi-level, mixed-effects Poisson regression and all-site IRRs using a linear mixed-effects regression (N = 45 sites). Following PCV10/13 introduction, the incidence rate (IR) of ST1 IPD declined among all ages. After six years of PCV10/13 use, the all-site IRR was 0.05 (95% credibility interval 0.04-0.06) for all ages, 0.05 (0.04-0.05) for <5 years of age, 0.08 (0.06-0.09) for 5-17 years, 0.06 (0.05-0.08) for 18-49 years, 0.06 (0.05-0.07) for 50-64 years, and 0.05 (0.04-0.06) for ≥65 years. PCV10/13 use in infant immunization programs was followed by a 95% reduction in ST1 IPD in all ages after approximately 6 years. Limited data availability from the highest ST1 disease burden countries using a 3+0 schedule constrains generalizability and data from these settings are needed.

• Publication type
• Journal Article MeSH

Serotype-specific surveillance for invasive pneumococcal disease (IPD) is essential for assessing the impact of 10- and 13-valent pneumococcal conjugate vaccines (PCV10/13). The Pneumococcal Serotype Replacement and Distribution Estimation (PSERENADE) project aimed to evaluate the global evidence to estimate the impact of PCV10/13 by age, product, schedule, and syndrome. Here we systematically characterize and summarize the global landscape of routine serotype-specific IPD surveillance in PCV10/13-using countries and describe the subset that are included in PSERENADE. Of 138 countries using PCV10/13 as of 2018, we identified 109 with IPD surveillance systems, 76 of which met PSERENADE data collection eligibility criteria. PSERENADE received data from most (n = 63, 82.9%), yielding 240,639 post-PCV10/13 introduction IPD cases. Pediatric and adult surveillance was represented from all geographic regions but was limited from lower income and high-burden countries. In PSERENADE, 18 sites evaluated PCV10, 42 PCV13, and 17 both; 17 sites used a 3 + 0 schedule, 38 used 2 + 1, 13 used 3 + 1, and 9 used mixed schedules. With such a sizeable and generally representative dataset, PSERENADE will be able to conduct robust analyses to estimate PCV impact and inform policy at national and global levels regarding adult immunization, schedule, and product choice, including for higher valency PCVs on the horizon.

• Publication type
• Journal Article MeSH

• MeSH
• Anti-Infective Agents MeSH
• Microbiological Phenomena MeSH
• Sterilization MeSH

• Conspectus
• Veřejné zdraví a hygiena
• NML Fields
• hygiena
• NML Publication type
• kolektivní monografie

• MeSH
• Neurology MeSH

• Conspectus
• Patologie. Klinická medicína
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• neurologie
• NML Publication type
• kolektivní monografie
• učebnice vysokých škol