Background: The NHS Jewish BRCA Testing Programme is offering germline and genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ) founder germline pathogenic variant (gPV) compared with the general population.Testing is offered via a self-referral, home-based saliva sampling pathway, supported by a genetic counsellor telephone helpline.
View Article and Find Full Text PDFVery small intracranial aneurysms, generally considered to be those 3 mm in diameter or smaller, pose particular technical challenges for endovascular surgeons. For this reason, very small aneurysms have been excluded from many relevant studies. The aim of our research was to establish the risk factors for the occurrence of stroke complications after endovascular embolization of ruptured and unruptured small intracranial aneurysms.
View Article and Find Full Text PDFKnowledge seems to mitigate the consequences of dementia and new educational strategies are required. This study aimed to qualitatively explore the reflexive views and experiences of virtual Communities of Practice (vCoP) among informal and formal caregivers of people with dementia and explore vCoP as a tool for learning and knowledge development. Data were collected in a sequence of virtual workshops and analyzed and synthesized using thematic analysis.
View Article and Find Full Text PDFMorphosyntactic assessments are important for characterizing individuals with nonfluent/agrammatic variant primary progressive aphasia (nfvPPA). Yet, standard tests are subject to examiner bias and often fail to differentiate between nfvPPA and logopenic variant PPA (lvPPA). Moreover, relevant neural signatures remain underexplored.
View Article and Find Full Text PDFThe coronavirus disease of 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), includes a clinical spectrum of diseases from mild to severe progressive pneumonia, which has affected and still affects the human population worldwide. Most commonly, it is presented by respiratory symptoms, but studies have shown that about 50% of patients with SARS-CoV-2 infection have at least one gastrointestinal symptom (GI), predominantly nausea, diarrhea, vomiting, or loss of appetite. In addition, abnormal liver functional tests are commonly present in the SARS-CoV-2 virus.
View Article and Find Full Text PDFStudies on the neural bases of sentence production have yielded mixed results, partly due to differences in tasks and participant types. In this study, 101 individuals with primary progressive aphasia (PPA) were evaluated using a test that required spoken production following an auditory prime (Northwestern Assessment of Verbs and Sentences-Sentence Production Priming Test, NAVS-SPPT), and one that required building a sentence by ordering word cards (Northwestern Anagram Test, NAT). Voxel-Based Morphometry revealed that gray matter (GM) volume in left inferior/middle frontal gyri (L IFG/MFG) was associated with sentence production accuracy on both tasks, more so for complex sentences, whereas, GM volume in left posterior temporal regions was exclusively associated with NAVS-SPPT performance and predicted by performance on a Digit Span Forward (DSF) task.
View Article and Find Full Text PDFFront Public Health
December 2023
Summary Of Background: Dementia is among the leading causes of death and disability worldwide, having a major impact not only on the affected person but also on all of society. The Internet is a popular and growing source of health-related information for patients, family members, carriers, and physicians. TikTok, one of the most popular social media platforms, is an important source for knowledge access and adoption.
View Article and Find Full Text PDFAustralas Emerg Care
June 2024
Background: This study aimed to assess the efficacy of a screening questionnaire, based on historical criteria, in distinguishing between seizures and syncope in patients experiencing their first episode of transient loss of consciousness (TLOC) in a neurology emergency department.
Methods: A prospective cohort of 159 patients with initial TLOC episodes underwent clinical observation and answered a nine-question screening questionnaire. The questionnaire's predictive ability was compared to final diagnoses determined through detailed neurology, electrophysiology, and cardiology assessments during a minimum 12-month follow-up.
Belatacept, a CTLA4-Ig, was designed to prevent rejection and graft loss in kidney transplant recipients. This immunotherapy showed a long-term clinical benefit mainly on renal function and better glycemic control but was also associated with a higher number of severe infectious diseases, particularly CMV disease, and lymphoproliferative disease. Therapeutic drug monitoring usually guides the benefit-risk assessment of long-term immunosuppression.
View Article and Find Full Text PDFCurr Issues Mol Biol
November 2023
Metabolic-associated liver disease (MAFLD) affects up to 70% of overweight and more than 90% of morbidly obese people, and its pathogenesis is rather complex and multifactorial. The criteria for MAFLD include the presence of hepatic steatosis in addition to one of the following three criteria: overweight or obesity, presence of type 2 diabetes mellitus (T2DM), or evidence of metabolic dysregulation. If the specific criteria are present, the diagnosis of MAFLD can be made regardless of alcohol consumption and previous liver disease.
View Article and Find Full Text PDFThis paper aims to improve the methodology and results accuracy of MEDALUS model for assessing land degradation sensitivity through the application of different data detail levels and by introducing the application of Ellenberg indices in metrics related to vegetation drought sensitivity assessment. For that purpose, the MEDALUS model was applied at 2 levels of detail. Level I (municipality level) implied the use of available large-scale databases and level II (watershed) contains more detailed information about vegetation used in the calculation of the VQI and MQI factors (Fig.
View Article and Find Full Text PDFIndividuals with high emotional granularity make fine-grained distinctions between their emotional experiences. To have greater emotional granularity, one must acquire rich conceptual knowledge of emotions and use this knowledge in a controlled and nuanced way. In the brain, the neural correlates of emotional granularity are not well understood.
View Article and Find Full Text PDFThe logopenic variant of primary progressive aphasia (lvPPA) is a neurodegenerative syndrome characterized linguistically by gradual loss of repetition and naming skills, resulting from left posterior temporal and inferior parietal atrophy. Here, we sought to identify which specific cortical loci are initially targeted by the disease (epicenters) and investigate whether atrophy spreads through pre-determined networks. First, we used cross-sectional structural MRI data from individuals with lvPPA to define putative disease epicenters using a surface-based approach paired with an anatomically-fine-grained parcellation of the cortical surface (i.
View Article and Find Full Text PDFIntroduction: Many words are categorially ambiguous and can be used as a verb () or as a noun () due to the presence of unpronounced morphology or "zero morphology". On this account, the verb "paint" is derived from the noun "paint" through the addition of a silent category-changing morpheme. Past studies have uncovered the syntactic and semantic properties of these categorially ambiguous words, but no research has been conducted on how people process them during normal or impaired lexical processing.
View Article and Find Full Text PDFExpert Opin Investig Drugs
April 2023
Introduction: While there are already approved anticonvulsants for treatment of children with Dravet syndrome, disease modifying therapy is at its beginning.
Areas Covered: This narrative review is updating the latest information about efficacy and safety of both anticonvulsant and disease modifying investigational drugs for Dravet syndrome. Relevant publications were searched for in MEDLINE, GOOGLE SCHOLAR, SCINDEKS, and CLINICALTRIALS.
Background: The administration of chemotherapy positively correlates with diverse adverse drug reactions, including the significant impact of hematological hazards such as anemia, leukopenia-neutropenia, thrombocytopenia, and pancytopenia. This pilot pharmacoeconomic study aimed to estimate the total direct costs of treating hematological toxicity induced by chemotherapy and its main determinants.
Methods: The study was conducted as a retrospective cost of illness study using the "from bottom to the top" approach from the perspective of the Republic Health Insurance Fund.
In frontotemporal dementia (FTD), left-lateralized atrophy patterns have been associated with elevations in certain positive emotions. Here, we investigated whether positive emotional reactivity was enhanced in semantic variant primary progressive aphasia (svPPA), an FTD syndrome that targets the left anterior temporal lobe. Sixty-one participants (16 people with svPPA, 24 people with behavioral variant FTD, and 21 healthy controls) viewed six 90-sec trials that were comprised of a series of photographs; each trial was designed to elicit a specific positive emotion, negative emotion, or no emotion.
View Article and Find Full Text PDFBackground And Objectives: Motor speech function, including speech timing, is a key domain for diagnosing nonfluent/agrammatic variant primary progressive aphasia (nfvPPA). Yet, standard assessments use subjective, specialist-dependent evaluations, undermining reliability and scalability. Moreover, few studies have examined relevant anatomo-clinical alterations in patients with pathologically confirmed diagnoses.
View Article and Find Full Text PDFPrimary progressive aphasia (PPA) is a clinical syndrome in which patients progressively lose speech and language abilities. Three variants are recognized: logopenic (lvPPA), associated with phonology and/or short-term verbal memory deficits accompanied by left temporo-parietal atrophy; semantic (svPPA), associated with semantic deficits and anterior temporal lobe (ATL) atrophy; non-fluent (nfvPPA) associated with grammar and/or speech-motor deficits and inferior frontal gyrus (IFG) atrophy. Here, we set out to investigate whether the three variants of PPA can be dissociated based on error patterns in a single language task.
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