UNLABELLED: The aim of this study was to identify parameters influencing DNA extraction and PCR amplification efficiencies in an attempt to standardize Mucorales qPCR. The Fungal PCR Initiative Mucorales Laboratory Working Group distributed two panels of simulated samples to 26 laboratories: Panel A (six sera spiked with Mucorales DNA and one negative control serum) and Panel B (six Mucorales DNA extracts). Panel A underwent DNA extraction in each laboratory according to the local procedure and were sent to a central laboratory for testing using three different qPCR techniques: one in-house qPCR assay and two commercial assays (MucorGenius and Fungiplex). Panel B DNA extracts were PCR amplified in each laboratory using local procedures: nine in-house qPCR assays and two commercial kits (MucorGenius and MycoGENIE). All data were compiled and anonymously analyzed at the central laboratory. For Panel A, a total of six different automated platforms and five manual extraction methods were used. Positive rates were 64%, 70%, and 89%, for the MucorGenius, Fungiplex, and the in-house qPCR assay, respectively. Using a large volume of serum for DNA extraction provided the highest analytical sensitivity (82.5% for 1 mL compared with 62.7% for smaller volumes, P < 0.01). For Panel B, five in-house qPCR assays and two commercial kits had >78% positivity. Using larger PCR input volumes (≥7 μL) was associated with the highest sensitivity at 95.5% compared to 58.3% when lower input volumes were used (P < 0.01). Using larger sample volumes for nucleic acid extraction and DNA template volumes for PCR amplification significantly improves the performance of Mucorales qPCR when testing serum. IMPORTANCE: Mucormycosis is a life-threatening mold infection affecting immunosuppressed patients but also other patients with diabetes or trauma. Better survival is linked to shorter delays in diagnosis and treatment initiation. Detection of Mucorales-free DNA in serum or plasma using quantitative PCR allows a prompt diagnosis and earlier treatment. Several techniques and protocols of quantitative Mucorales PCR are used in Europe, and improving performance remains a common objective of laboratories participating in the fungal PCR Initiative Working Group. This study, which combined results from 26 laboratories in Europe, showed that the main parameters underpinning sensitivity are the preanalytical variables (volume of serum used for DNA extraction and DNA template volume), irrespective of the extraction platforms and qPCR assay/platform.
- MeSH
- Molecular Diagnostic Techniques standards methods MeSH
- DNA, Fungal * blood genetics MeSH
- Real-Time Polymerase Chain Reaction * standards methods MeSH
- Humans MeSH
- Mucorales * genetics isolation & purification MeSH
- Mucormycosis * diagnosis microbiology blood MeSH
- Sensitivity and Specificity * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Evaluation Study MeSH
BACKGROUND: Although neuromelanin-sensitive magnetic resonance imaging (NM-MRI) has been used to evaluate early neurodegeneration in Parkinson's disease, studies concentrating on the locus coeruleus (LC) in pre-dementia stages of dementia with Lewy bodies (DLB) are lacking. OBJECTIVES: The aims were to evaluate NM-MRI signal changes in the LC in patients with mild cognitive impairment with Lewy bodies (MCI-LB) compared to healthy controls (HC) and to identify the cognitive correlates of the changes. We also aimed to test the hypothesis of a caudal-rostral α-synuclein pathology spread using NM-MRI of the different LC subparts. METHODS: A total of 38 MCI-LB patients and 59 HCs underwent clinical and cognitive testing and NM-MRI of the LC. We calculated the contrast ratio of NM-MRI signal (LC-CR) in the whole LC as well as in its caudal, middle, and rostral MRI slices, and we compared the LC-CR values between the MCI-LB and HC groups. Linear regression analyses were performed to assess the relationship between the LC-CR and cognitive outcomes. RESULTS: The MCI-LB group exhibited a significant reduction in the right LC-CR compared to HCs (P = 0.021). The right LC-CR decrease was associated with impaired visuospatial memory in the MCI-LB group. Only the caudal part of the LC exhibited significant LC-CR decreases in MCI-LB patients compared to HCs on both sides (P < 0.0001). CONCLUSIONS: This is the first study that focuses on LC-CRs in MCI-LB patients and analyzes the LC subparts, offering new insights into the LC integrity alterations in the initial stages of DLB and their clinical correlates. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- MeSH
- alpha-Synuclein metabolism MeSH
- Lewy Body Disease * diagnostic imaging pathology MeSH
- Cognitive Dysfunction * diagnostic imaging pathology physiopathology etiology MeSH
- Middle Aged MeSH
- Humans MeSH
- Locus Coeruleus * diagnostic imaging pathology MeSH
- Magnetic Resonance Imaging * MeSH
- Neuropsychological Tests MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
PURPOSE OF REVIEW: A critical evaluation of contemporary literature regarding the role of big data, artificial intelligence, and digital technologies in precision cardio-oncology care and survivorship, emphasizing innovative and groundbreaking endeavors. RECENT FINDINGS: Artificial intelligence (AI) algorithm models can automate the risk assessment process and augment current subjective clinical decision tools. AI, particularly machine learning (ML), can identify medically significant patterns in large data sets. Machine learning in cardio-oncology care has great potential in screening, diagnosis, monitoring, and managing cancer therapy-related cardiovascular complications. To this end, large-scale imaging data and clinical information are being leveraged in training efficient AI algorithms that may lead to effective clinical tools for caring for this vulnerable population. Telemedicine may benefit cardio-oncology patients by enhancing healthcare delivery through lowering costs, improving quality, and personalizing care. Similarly, the utilization of wearable biosensors and mobile health technology for remote monitoring holds the potential to improve cardio-oncology outcomes through early intervention and deeper clinical insight. Investigations are ongoing regarding the application of digital health tools such as telemedicine and remote monitoring devices in enhancing the functional status and recovery of cancer patients, particularly those with limited access to centralized services, by increasing physical activity levels and providing access to rehabilitation services. SUMMARY: In recent years, advances in cancer survival have increased the prevalence of patients experiencing cancer therapy-related cardiovascular complications. Traditional cardio-oncology risk categorization largely relies on basic clinical features and physician assessment, necessitating advancements in machine learning to create objective prediction models using diverse data sources. Healthcare disparities may be perpetuated through AI algorithms in digital health technologies. In turn, this may have a detrimental effect on minority populations by limiting resource allocation. Several AI-powered innovative health tools could be leveraged to bridge the digital divide and improve access to equitable care.
- Publication type
- Journal Article MeSH
In 2019, Pantoea piersonii was initially isolated from the interior surfaces of the International Space Station. This microorganism is a species within the genus Pantoea in the family Erwiniaceae, belonging to the order Enterobacterales. Recent literature has documented four cases of its isolation. Despite initial predictions suggesting the non-pathogenicity of P. piersonii strains, evidence from observed cases indicates potential pathogenicity. According to documented evidence in the literature, this microorganism is capable of causing severe and life-threatening conditions, including sepsis. Traditional tests, as well as automated systems, may fail to provide complete differentiation due to these similarities. While MALDI-TOF MS is a valuable tool for identification in clinical diagnostic microbiology, sequencing may be necessary for precise identification. To determine the antibiotic susceptibility profile, various methods can be utilized, including minimum inhibitory concentration determination, disk diffusion testing (Kirby-Bauer test), genotypic resistance assays (PCR and sequencing), and automated systems. The literature reports a limited number of cases associating P. piersonii with human infection. This study contributes to this body of knowledge by reporting a novel case in which P. piersonii was isolated from a tissue sample for the first time. In this case report, the patient achieved recovery following the administration of appropriate antibiotic treatment based on the diagnosis. It underscores the need for precise identification and understanding of its pathogenicity.
- MeSH
- Anti-Bacterial Agents * pharmacology therapeutic use MeSH
- Enterobacteriaceae Infections * microbiology diagnosis drug therapy MeSH
- Humans MeSH
- Microbial Sensitivity Tests * MeSH
- Pantoea * isolation & purification genetics pathogenicity MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Cognitive flexibility (CF) is the ability to adapt cognitive strategies according to the changing environment. The deficit in CF has often been linked to various neurological and psychiatric disorders including schizophrenia. However, the operationalization and assessment of CF have not been unified and the current research suggests that the available instruments measure different aspects of CF. The main objective of the present study was to compare three frequently used neuropsychological measures of CF-Wisconsin Card Sorting Test (WCST), Trail Making Test (TMT) and Stroop Color and Word Test (SCWT) in a population of patients (N = 220) with first-episode schizophrenia spectrum disorders in order to evaluate their convergent validity. The hypothesis of an underlying latent construct was tested via a confirmatory factor analysis. We used a one-factor CF model with scores from WCST, SCWT and TMT as observed variables. The established model showed a good fit to the data (χ2 = 1.67, p = 0.43, SRMR = 0.02, RMSEA = 0.0, CFI = 1.00). The highest factor loading was found in WCST as CF explained most of the variance in this neuropsychological measure compared to the other instruments. On the other hand, a TMT ratio index and a SCWT interference demonstrated lowest loadings in the model. The findings suggest that not all the frequently used measures share an underlying factor of CF or may capture different aspects of this construct.
- MeSH
- Adult MeSH
- Executive Function * physiology MeSH
- Factor Analysis, Statistical MeSH
- Cognitive Dysfunction * etiology diagnosis physiopathology MeSH
- Cognitive Flexibility MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Neuropsychological Tests * standards MeSH
- Psychometrics MeSH
- Schizophrenic Psychology * MeSH
- Schizophrenia * complications physiopathology MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Oslabené sociokognitívne schopnosti môžu signalizovať riziko sociálnej (pragmatickej) komunikačnej poruchy alebo poruchy autistického spektra. Skorá identifikácia ťažkostí je kľúčová pre začatie cielenej intervencie a elimináciu prehlbovania existujúcich deficitov. Cieľom príspevku je predstaviť zahraničný diagnostický nástroj The Early Sociocognitive Battery (ESB) autoriek Shuly Chiat, Penny Roy a Jennifer Warwick, ktorý umožňuje priame hodnotenie sociokognitívnych schopností detí už v ranom veku. Teoretický opis ESB je doplnený o stručný prehľad výsledkov pilotného testovania 44 intaktných slovensky hovoriacich detí mladšieho predškolského veku, zameraného na analýzu výkonov detí v závislosti od pohlavia. Participanti boli hodnotení prostredníctvom batérie ESB, testu Opakovanie pseudoslov a Dotazníka použitia jazyka (LUI). Pilotné dáta ukazujú, že pohlavie detí nemá signifikantný vplyv na ich výkony v rámci nástroja ESB. Rovnako bola preukázaná štatisticky významná korelácia medzi celkovým skóre v dotazníku LUI a skóre v subteste Spoločná pozornosť batérie ESB. Výsledky podporujú aplikovateľnosť nástroja ESB aj v slovenskom kultúrnom a jazykovom prostredí.
Impaired sociocognitive abilities may signal the risk of a social (pragmatic) communication disorder or Autism Spectrum Disorder. Early identification of difficulties is crucial for initiating targeted intervention and preventing the escalation of existing deficits. The aim of this paper is to introduce the foreign diagnostic tool, the Early Sociocognitive Battery (ESB), developed by Shula Chiat, Penny Roy and Jennifer Warwick. This tool enables direct assessment of children's sociocognitive abilities at an early age. The theoretical description of the ESB is supplemented by a brief overview of the results from the pilot testing of 44 typically developing Slovak-speaking children in the younger preschool age group, focusing on the analysis of children's performance in relation to gender. Participants were assessed using the ESB, Nonword Repetition Task, and Language Use Inventory (LUI). Pilot data show that the children's gender does not have a significant impact on their performance within the ESB tool. In addition, a statistically significant correlation was found between the total score on the LUI and the score on the Joint Attention subtest of the ESB. The results support the applicability of the ESB tool in the Slovak cultural and linguistic context.
- MeSH
- Child MeSH
- Cognition MeSH
- Communication MeSH
- Humans MeSH
- Neuropsychological Tests * MeSH
- Pilot Projects MeSH
- Autism Spectrum Disorder diagnosis MeSH
- Sex Factors MeSH
- Social Behavior MeSH
- Language Development MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
Řeč, pohyb, správný ontogenetický vývoj jedince, kognice, emoce, schopnost učit se, paměť – a s výčtem bychom mohly pokračovat. To vše je přímo závislé na rovnováze, za kterou stojí rytmus realizovaný v optimálním tempu s dostatečnou intenzitou a v pravidelně se opakujících, časově dobře volených intervalech. Často si, vlivem zautomatizovaných činností, neuvědomujeme, s jakou pravidelností, plánováním a organizovaností vykonáváme základní motorické vzorce, které se intuitivně a naprosto přirozeně učíme prostřednictvím dostatečně intenzivních intervalových rytmických aktivit. A právě terapie v logopedické praxi vedená intenzivně a intervalově napomáhá u dětí a žáků příznivě ovlivňovat prognózu jejich řečového vývoje, bez ohledu na to, zda využíváme direktivní, nebo nedirektivní přístup. To je mimo jiné potvrzeno také v závěru uvedeným stručným kazuistickým příkladem klientky se závažnou myofunkční poruchou.
Speech, movement, proper ontogenetic development of the individual, cognition, emotions, ability to learn, memory and the list could go on. All of these are directly dependent on balance, which is based on the rhythm realised at an optimal pace with sufficient intensity and in regularly recurring intervals of well-chosen timing. Often, due to automated activities, we are not aware of the regularity, planning and organisation with which we perform the basic motor patterns that we intuitively and quite naturally learn through sufficiently intense interval rhythmic activities. And it is precisely the therapy in Speech Therapy practice conducted intensively and at intervals, that helps to positively influence the prognosis of children and pupils in their speech development, regardless of whether we use a directive or non-directive approach. This is confirmed, among other things, by the brief case example of a client with a severe myofunctional disorder, presented in the end of the paper.
- MeSH
- Dysarthria etiology therapy MeSH
- Language Disorders diagnosis etiology therapy MeSH
- Language Tests MeSH
- Humans MeSH
- Malocclusion MeSH
- Nervous System growth & development MeSH
- Speech Disorders * diagnosis etiology therapy MeSH
- Speech Therapy methods MeSH
- Learning physiology MeSH
- Child Development MeSH
- Check Tag
- Humans MeSH
BACKGROUND: Spatial navigation deficits are early symptoms of Alzheimer's disease (AD). The apolipoprotein E (APOE) ε4 allele is the most important genetic risk factor for AD. This study investigated effects of APOE genotype on spatial navigation in biomarker-defined individuals with amnestic mild cognitive impairment (aMCI) and associations of AD biomarkers and atrophy of AD-related brain regions with spatial navigation. METHODS: 107 participants, cognitively normal older adults (CN, n = 48) and aMCI individuals stratified into AD aMCI (n = 28) and non-AD aMCI (n = 31) groups, underwent cognitive assessment, brain MRI, and spatial navigation assessment using the Virtual Supermarket Test with egocentric and allocentric tasks and a self-report questionnaire. Cerebrospinal fluid (CSF) biomarkers (amyloid-β1-42, phosphorylated tau181 and total tau) and amyloid PET imaging were assessed in aMCI participants. RESULTS: AD aMCI participants had the highest prevalence of APOE ε4 carriers and worst allocentric navigation. CSF levels of AD biomarkers and atrophy in AD-related brain regions were associated with worse allocentric navigation. Between-group differences in spatial navigation and associations with AD biomarkers and regional brain atrophy were not influenced by APOE genotype. Self-reported navigation ability was similar across groups and unrelated to spatial navigation performance. CONCLUSIONS: These findings suggest that allocentric navigation deficits in aMCI individuals are predominantly driven by AD pathology, independent of APOE genotype. This highlights the role of AD pathology as measured by biomarkers, rather than genetic status, as a major factor in navigational impairment in aMCI, and emphasizes the assessment of spatial navigation as a valuable tool for early detection of AD.
- MeSH
- Alzheimer Disease * genetics cerebrospinal fluid diagnostic imaging complications physiopathology pathology MeSH
- Amyloid beta-Peptides cerebrospinal fluid MeSH
- Apolipoprotein E4 * genetics MeSH
- Apolipoproteins E * genetics MeSH
- Atrophy MeSH
- Biomarkers cerebrospinal fluid MeSH
- Genotype MeSH
- Cognitive Dysfunction * genetics cerebrospinal fluid diagnostic imaging physiopathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Brain pathology diagnostic imaging MeSH
- Neuropsychological Tests MeSH
- Peptide Fragments cerebrospinal fluid MeSH
- Positron-Emission Tomography MeSH
- Spatial Navigation * physiology MeSH
- tau Proteins cerebrospinal fluid MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Intracranial human brain recordings from multiple implanted depth electrodes using stereo-EEG (sEEG) technology for seizure localization provide unique local field potential signals (LFP) sampled with standard macro- and special micro-electrode contacts. Over one hundred macro- and micro-contact LFP signals localized in particular brain regions were recorded from each sEEG monitoring case as patients engaged in an automated battery of verbal memory and non-verbal gaze movement tasks. Subject eye and vocal responses in both visual and auditory task versions were automatically detected in Polish, Czech, and Slovak languages with accurate timing of the correct and incorrect verbal responses using our web-based transcription tool. The behavioral events, LFP and pupillometric signals were synchronized and stored in a standard BIDS data structure with corresponding metadata. Each dataset contains recordings from at least one battery task performed over at least one day. The same set of 180 common nouns in the three languages was used across different battery tasks and recording days to enable the analysis of selective responses to specific word stimuli.
- MeSH
- Electroencephalography MeSH
- Language MeSH
- Cognition * MeSH
- Humans MeSH
- Brain * physiology MeSH
- Eye Movements MeSH
- Eye-Tracking Technology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Dataset MeSH
In drug-resistant focal epilepsy, planning surgical resection can involve presurgical intracranial EEG (iEEG) recordings to detect seizures and other iEEG patterns to improve postsurgical seizure outcome. We hypothesized that resection of tissue generating interictal high-frequency oscillations (HFOs, 80-500 Hz) in the iEEG predicts surgical outcome. In eight international epilepsy centres, iEEG was recorded during the presurgical evaluation of patients. The patients were of all ages, had epilepsy of all types, and underwent surgical resection of a single focus aiming at seizure freedom. In a prospective analysis, we applied a fully automated definition of HFO that was independent of the dataset. Using an observational cohort design that was blinded to postsurgical seizure outcome, we analysed HFO rates during non-rapid-eye-movement sleep. If channels had consistently high rates over multiple epochs, they were labelled the 'HFO area'. After HFO analysis, centres provided the electrode contacts located in the resected volume and the seizure outcome at follow-up ≥24 months after surgery. The study was registered at www.clinicaltrials.gov (NCT05332990). We received 160 iEEG datasets. In 146 datasets (91%), the HFO area could be defined. The patients with a completely resected HFO area were more likely to achieve seizure freedom in comparison to those without [odds ratio 2.61, 95% confidence interval (CI) 1.15-5.91, P = 0.02]. Among seizure-free patients, the HFO area was completely resected in 31 and not completely resected in 43. Among patients with recurrent seizures, the HFO area was completely resected in 14 and not completely resected in 58. When predicting seizure freedom, the negative predictive value of the HFO area (68%, CI 52-81) was higher than that for the resected volume as a predictor by itself (51%, CI 42-59, P = 4 × 10-5). The sensitivity and specificity for complete HFO area resection were 0.88 (CI 0.72-0.98) and 0.39 (CI 0.25-0.54), respectively, and the area under the curve was 0.83 (CI 0.58-0.97), indicating good predictive performance. In a blinded cohort study from independent epilepsy centres, applying a previously validated algorithm for HFO marking without the need for adjusting to new datasets allowed us to validate the clinical relevance of HFOs to plan the surgical resection.
- MeSH
- Child MeSH
- Adult MeSH
- Electroencephalography methods MeSH
- Electrocorticography * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Prospective Studies MeSH
- Drug Resistant Epilepsy * surgery physiopathology MeSH
- Treatment Outcome MeSH
- Seizures * surgery physiopathology diagnosis MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Observational Study MeSH
