• MeSH
• Medical History Taking MeSH
• Diagnosis, Differential MeSH
• Adult MeSH
• Humans MeSH
• Osteoporosis diagnosis   classification   physiopathology   MeSH
• Risk Factors MeSH
• Check Tag
• Adult MeSH
• Humans MeSH

BACKGROUND: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. OBJECTIVES: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). METHODS: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Singleton (N = 146), duo (N = 11), and trio (N = 52) WES data were generated to identify genetic diagnoses. RESULTS: Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early-onset segmental or generalized dystonia with coexisting non-movement disorder-related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81. CONCLUSIONS: The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

• MeSH
• Algorithms MeSH
• Dystonic Disorders * genetics   MeSH
• Dystonia * diagnosis   genetics   MeSH
• Genetic Testing MeSH
• Humans MeSH
• Parkinson Disease * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

• MeSH
• Child MeSH
• Critical Pathways MeSH
• Cryotherapy MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Retinopathy of Prematurity surgery   complications   prevention & control   MeSH
• Risk Factors MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Infant, Newborn MeSH

MOTIVATION: G-quadruplex is a DNA or RNA form in which four guanine-rich regions are held together by base pairing between guanine nucleotides in coordination with potassium ions. G-quadruplexes are increasingly seen as a biologically important component of genomes. Their detection in vivo is problematic; however, sequencing and spectrometric techniques exist for their in vitro detection. We previously devised the pqsfinder algorithm for PQS identification, implemented it in C++ and published as an R/Bioconductor package. We looked for ways to optimize pqsfinder for faster and user-friendly sequence analysis. RESULTS: We identified two weak points where pqsfinder could be optimized. We modified the internals of the recursive algorithm to avoid matching and scoring many sub-optimal PQS conformations that are later discarded. To accommodate the needs of a broader range of users, we created a website for submission of sequence analysis jobs that does not require knowledge of R to use pqsfinder. AVAILABILITY AND IMPLEMENTATION: https://pqsfinder.fi.muni.cz, https://bioconductor.org/packages/pqsfinder. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

• MeSH
• Algorithms MeSH
• G-Quadruplexes * MeSH
• Genome MeSH
• RNA MeSH
• Software MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Předkládaný článek shrnuje základní algoritmus vyšetření etiologie ischemické cévní mozkové příhody (iCMP). Rozebírá obecné principy etiologické klasifikace, příčinný a fenotypický. Detailně je rozebrána aktuálně pro denní klinickou nejvhodnější mezinárodně používaná příčinná klasifikace SSS-TOAST, která je upřesněním a vylepšením stále nejvíce používané klasifikace TOAST. SSS-TOAST rozděluje ischemické ikty stále na pět základních typů – kardioembolizační, ateroskleróza velkých tepen, onemocnění malých tepen, jiná určená a neurčená. Podle úrovně důkazu pak vymezuje tři síly etiologické klasifikace – jasná, pravděpodobná a možná. V článku jsou rozebrány vyšetřovací metodiky, které originální publikace klasifikačního systému vyžaduje. Součástí článku je schematické rozdělení vyšetřovacích taktik do tří panelů – základního (pro všechny pacienty s iCMP), pokročilého (pokud je negativní základní panel a u cévně mladších pacientů) a detailního (vysoce výběrového při významném klinickém podezření na vzácnou etiologii iCMP).

The presented article summarizes the algorithm for the diagnostic evaluation of patients with ischemic stroke. The general principles of stroke etiology classification, i.e. causative and phenotypic, are discussed. The classification system deemed the most practical for daily clinical practice SSS-TOAST is described in detail. SSS-TOAST is an upgrade of the most widely used classification system TOAST. It divides the ischemic strokes into five etiology subgroups (cardioembolic, large artery atherosclerosis, small artery occlusion, other etiology and undetermined). Based on the weight of evidence, each subtype is subdivided into three subcategories as evident, probable, or possible. The algorithm defines three diagnostic panels – basic (for ischemic stroke patients), advanced (if the basic panel examinations are negative or in all young stroke patients), and detailed (highly selective examinations for the rare causes of ischemic stroke).

• MeSH
• Plaque, Atherosclerotic diagnostic imaging   epidemiology   classification   MeSH
• Atherosclerosis diagnostic imaging   classification   MeSH
• Stroke * diagnostic imaging   classification   blood   MeSH
• Computed Tomography Angiography MeSH
• Electrocardiography methods   MeSH
• Embolism and Thrombosis diagnostic imaging   classification   MeSH
• Intracranial Embolism and Thrombosis diagnostic imaging   epidemiology   MeSH
• Brain Ischemia diagnostic imaging   epidemiology   MeSH
• Stroke, Lacunar diagnostic imaging   epidemiology   etiology   MeSH
• Humans MeSH
• Tomography, X-Ray Computed methods   MeSH
• Risk Factors MeSH
• Ischemic Attack, Transient diagnostic imaging   classification   blood   MeSH
• Ultrasonography, Doppler methods   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Rapid development of computer technologies leads to the intensive automation of many different processes traditionally performed by human experts. One of the spheres characterized by the introduction of new high intelligence technologies substituting analysis performed by humans is sleep scoring. This refers to the classification task and can be solved - next to other classification methods - by use of artificial neural networks (ANN). ANNs are parallel adaptive systems suitable for solving of non-linear problems. Using ANN for automatic sleep scoring is especially promising because of new ANN learning algorithms allowing faster classification without decreasing the performance. Both appropriate preparation of training data as well as selection of the ANN model make it possible to perform effective and correct recognizing of relevant sleep stages. Such an approach is highly topical, taking into consideration the fact that there is no automatic scorer utilizing ANN technology available at present.

• MeSH
• Electroencephalography methods   MeSH
• Humans MeSH
• Neural Networks, Computer MeSH
• Polysomnography methods   MeSH
• Sleep physiology   MeSH
• Sleep Stages physiology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Úvod: Bolesti na hrudi patří mezi nejčastější důvody pro akutní vyšetření. Pacienti ve vysokém věku se často prezentují atypickými symptomy a nejednoznačnými laboratorními a elektrokardiografickými nálezy, což znesnadňuje rychlou diagnostiku. K efektivní rizikové stratifikaci byly vyvinuty diagnostické algoritmy, které mohou dále nasměrovat další vyšetřovací a léčebný postup.

Introduction: Chest pain is one of the leading causes for visit at the emergency department. Atypical symptoms, ambiguous laboratory and electrocardiographical findings in elderly make the rapid diagnostics difficult. Diagnostic algorithms were developed for effective risk stratification and they can direct us towards the right diagnosis and correct treatment. Objective: The aim of this study is to evaluate the effectiveness of T-MACS algorithm in very old patients presenting with acute chest pain. Methods: Retrospective analysis of 104 patients older than 80 years which were examined at emergency department for acute chest pain. Primary composite endpoint was combination of acute myocardial infarction, percutaneous coronary intervention (PCI) and all-cause death in 30 day and 12 months follow-up. Results: Mean age of study population is 84.9 years. Risk stratification according to T-MACS model: very low risk 1 %, low risk 24 %, intermediate risk 69.2 % and high risk 5.8 % patients. In 30 days follow-up, the incidence of primary composite endpoint (MACE) was 26.9 %, acute myocardial infarction 26 %, PCI 7.7% and all-cause mortality was 1.9 %. Estimated risk of major adverse cardiac events in 30 days was 28 % (average T-MACS score). T-MACS < 2 % has 100 % sensitivity and 100 % negative predictive value for absence of MACE, T-MACS > 95 % has 98.7 % specificity and 83.3 % positive predictive value for occurrence of MACE respectively. Patients with MACE had significantly different T-MACS score (p value < 0.01) compared to patients without MACE, difference in levels of hs-TnT was not statistically significance (p value > 0.05). Conclusion: We found good correlation between estimated and real incidence of selected cardiac events in our population. For the prediction of MACE the single value of hs-TnT is not good enough, more convenient is to use combination of more parameters. T-MACS has very high sensitivity and negative predictive value for absence of MACE and can be used in real world practice even in population of very old patients.

• Keywords
• T-MACS,
• MeSH
• Algorithms * MeSH
• Chest Pain diagnosis   etiology   MeSH
• Cardiovascular Diseases * diagnosis   epidemiology   MeSH
• Humans MeSH
• Retrospective Studies MeSH
• Risk MeSH
• Heart Disease Risk Factors MeSH
• Aged, 80 and over MeSH
• Statistics as Topic MeSH
• Check Tag
• Humans MeSH
• Aged, 80 and over MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH

Mnohočetný myelom (MM) a solitární plazmocytom (SP) jsou nejčastější primární nádory páteře. Léčba MM a SP páteře je komplexní proces, který zahrnuje léčbu kauzální s cílem potlačit nádorový klon a dále léčbu podpůrnou, jejíž součástí je i chirurgická terapie. Operace přispívají k lepší kvalitě života a nabývají na významu a smysluplnosti zejm. díky zlepšené prognóze onemocnění. Navrhli jsme algoritmus operační léčby MM a SP a ten jsme dále prospektivně ověřovali a jeho vyhodnocení bylo cílem této studie. Pa­cienti byli operováni v průběhu 10 let, minimální doba sledování byl jeden rok. Soubor tvořilo 32 pa­cientů (20 mužů a 12 žen) s průměrným věkem 61 let. Operováno bylo celkem 61 obratlů. Důvodem k operaci byly projevy útlaku míchy a progredující neurologický deficit (hodnoceno Frankelovou škálou) nebo na konzervativní léčbu nereagující axiální bolest (hodnoceno VAS; Visual Analogue Scale) páteře. Provedena byla ně­kte­rá z těchto operací: vertebroplastika (VP), laminektomie, transpedikulární fixace, somatektomie a jejich kombinace, nebo okcipito‑cervikální fixace. Pooperační VAS a Frankelova škála byly vyhodnoceny za jeden rok, skiagramy a MR jsme provedli a zhodnotili každý jeden rok. U žádného pa­cienta nenastala lokální recidiva tumoru ani selhání stabilizace na operovaném úseku v celém sledovaném období. Průměrný předoperační VAS byl 6,8 a jeden rok po operaci se průměrný VAS snížil na 1,1. Všechny operační výkony vedly nejen ke kontrole bolesti, ale také k prevenci nebo zlepšení neurologického postižení po celou dobu sledování. Hodnotili jsme náš postup – algoritmus operací, míru radikality a jejich načasování jako optimální pro MM i SP.

Multiple myeloma (MM) and solitary plasmacytoma (SP) are the most frequent primary tumors of the spine. Management of the spinal MM and SP is a complex process involving causal treatment to suppress the tumor clone, as well as supportive therapy, including surgery and radiotherapy. Surgery should be considered because of its favourable effect on disease prognosis. We proposed a surgical treatment algorithm in patients with spinal MM and SP and the aim of this article is to present prospective evaluation of this algorithm. Patients undergoing surgical treatment during the past 10 years were included in this study, with the minimum follow-up of one year. A total of 32 patients (20 males and 12 females) with the mean age of 61 years were included. Surgery of 61 vertebrae was performed. The procedures were indicated for progressing neurological deficit (Frankel score) and for axial spinal pain (VAS classification). We performed the following procedures: vertebroplasty, laminectomy, transpedicular fixation, somatectomy, and their combination, or occipito-cervical fixation. Frankel score and VAS was assessed one year after the surgery and X-ray and spinal MRI was performed every year. No local relapses of the tumor or stabilization failure were detected. The mean preoperative VAS was 6.8 and improved to 1.1 one year after the surgery. During the follow up period, we observed positive effect of surgery on pain control and on prevention or improvement of neurological dysfunction. The authors concluded that all surgical procedures, the extent of resection and timing were adequate in all subjects. Key words: multiple myeloma – solitary plasmacytoma –vertebroplasty – transpedicular fixation – somatectomy The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.

• MeSH
• Algorithms MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Pain Measurement MeSH
• Multiple Myeloma * diagnosis   surgery   pathology   MeSH
• Neuralgia surgery   MeSH
• Spine surgery   pathology   MeSH
• Plasmacytoma * diagnosis   surgery   pathology   MeSH
• Survival MeSH
• Aged MeSH
• Outcome and Process Assessment, Health Care MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH

BACKGROUND: Prediction of susceptibility to multiple sclerosis (MS) might have important clinical applications, either as part of a diagnostic algorithm or as a means to identify high-risk individuals for prospective studies. We investigated the usefulness of an aggregate measure of risk of MS that is based on genetic susceptibility loci. We also assessed the added effect of environmental risk factors that are associated with susceptibility for MS. METHODS: We created a weighted genetic risk score (wGRS) that includes 16 MS susceptibility loci. We tested our model with data from 2215 individuals with MS and 2189 controls (derivation samples), a validation set of 1340 individuals with MS and 1109 controls taken from several MS therapeutic trials (TT cohort), and a second validation set of 143 individuals with MS and 281 controls from the US Nurses' Health Studies I and II (NHS/NHS II), for whom we also have data on smoking and immune response to Epstein-Barr virus (EBV). FINDINGS: Individuals with a wGRS that was more than 1.25 SD from the mean had a significantly higher odds of MS in all datasets. In the derivation sample, the mean (SD) wGRS was 3.5 (0.7) for individuals with MS and 3.0 (0.6) for controls (p<0.0001); in the TT validation sample, the mean wGRS was 3.4 (0.7) for individuals with MS versus 3.1 (0.7) for controls (p<0.0001); and in the NHS/NHS II dataset, the mean wGRS was 3.4 (0.8) for individuals with MS versus 3.0 (0.7) for controls (p<0.0001). In the derivation cohort, the area under the receiver operating characteristic curve (C statistic; a measure of the ability of a model to discriminate between individuals with MS and controls) for the genetic-only model was 0.70 and for the genetics plus sex model was 0.74 (p<0.0001). In the TT and NHS cohorts, the C statistics for the genetic-only model were both 0.64; adding sex to the TT model increased the C statistic to 0.72 (p<0.0001), whereas adding smoking and immune response to EBV to the NHS model increased the C statistic to 0.68 (p=0.02). However, the wGRS does not seem to be correlated with the conversion of clinically isolated syndrome to MS. INTERPRETATION: The inclusion of 16 susceptibility alleles into a wGRS can modestly predict MS risk, shows consistent discriminatory ability in independent samples, and is enhanced by the inclusion of non-genetic risk factors into the algorithm. Future iterations of the wGRS might therefore make a contribution to algorithms that can predict a diagnosis of MS in a clinical or research setting.

• MeSH
• Alleles MeSH
• Algorithms * MeSH
• Child MeSH
• Adult MeSH
• Genotype MeSH
• Risk Assessment MeSH
• Polymorphism, Single Nucleotide genetics   MeSH
• Cohort Studies MeSH
• Middle Aged MeSH
• Humans MeSH
• Quantitative Trait Loci MeSH
• Adolescent MeSH
• Odds Ratio MeSH
• Predictive Value of Tests MeSH
• Child, Preschool MeSH
• Risk Factors MeSH
• Multiple Sclerosis * epidemiology   genetics   MeSH
• Aged MeSH
• Environment MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Research Support, N.I.H., Extramural MeSH

Neklid a delirium je u seniorů častým příznakem, který signalizuje nebezpečí a riziko pro pacienta. Jedná se multifaktoriální příčinu této změny v oblasti kognice. Velmi záleží na včasné diagnostice, diferenciální diagnostice a adekvátní symptomatické i kauzální terapii. Senior vyžaduje na rozdíl od dospělého pacienta jiné dávkování léčiv, látky mají jinou farmakokinetiku. Následující článek nabízí přehled vhodných látek či kombinací k řešení klinické situace – neklidu, deliria.

Agitation and delirium is a frequent symptom in the elderly, being a sign of danger and increased risk to the patient. Changes in the field of cognition have multifactorial causes. Timely diagnosis, differential diagnosis, and adequate symptomatic and causal therapy are of the highest importance. Unlike adult patients, seniors require a different dosage of medication and the substances have different pharmacokinetics. The presented paper provides an overview of appropriate medication and of recommended combinations of medical drugs used for management of the clinical situation – restlessness, delirium.

• MeSH
• Amisulpride administration & dosage   MeSH
• Antipsychotic Agents pharmacology   therapeutic use   MeSH
• Benzodiazepines administration & dosage   MeSH
• Delirium diagnosis   etiology   classification   therapy   MeSH
• Haloperidol administration & dosage   MeSH
• Humans MeSH
• Neurocognitive Disorders diagnosis   etiology   therapy   MeSH
• Nootropic Agents therapeutic use   MeSH
• Olanzapine administration & dosage   MeSH
• Risperidone administration & dosage   MeSH
• Risk Factors MeSH
• Aged MeSH
• Confusion diagnosis   etiology   psychology   therapy   MeSH
• Check Tag
• Humans MeSH
• Aged MeSH