Publications by authors named "Pantel J"

Article Synopsis
  • People with Down syndrome face a higher risk of early onset Alzheimer's, prompting a study to pinpoint issues in their healthcare from the perspectives of providers, patients, and facility staff.
  • The study involved 14 interviews revealing that medical providers often lack knowledge and experience in treating individuals with Down syndrome, making dementia diagnosis particularly challenging.
  • Proposed solutions include better training, caregiver involvement, medication reviews, and alternative treatment methods, which will be used to inform future health policy aimed at improving care for this population.
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  • * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
  • * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
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Background: Multimodal lifestyle interventions can benefit overall health, including cognition, in populations at-risk for dementia. However, little is known about the effect of lifestyle interventions in patients with prodromal Alzheimer's disease (AD). Even less is known about dietary intake and adherence to dietary recommendations within this population making it difficult to design tailored interventions for them.

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  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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Background: Tinnitus is one of the most common otologic comorbidities, particularly in older patients with severe hearing loss or deafness. Cochlear implants (CI) have been used for hearing rehabilitation more and more successfully in elderly patients and CI treatment is performed in Germany without an age limit. The aim of this follow-up study was to assess the tinnitus burden in the long-term follow-up of elderly patients with hearing rehabilitation using CI.

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Background: The Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability (FINGER) showed cognitive benefits from a multidomain lifestyle intervention in at-risk older people. The LipiDiDiet trial highlighted benefits of medical food in prodromal Alzheimer's disease (AD). However, the feasibility and impact of multimodal interventions combining lifestyle with medical food in prodromal AD is unclear.

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Evolutionary and ecological dynamics can occur on similar timescales and thus influence each other. While it has been shown that the relative contribution of ecological and evolutionary change to population dynamics can vary, it still remains unknown what influences these differences. Here, we test whether prey populations with increased variation in their defence and competitiveness traits will have a stronger impact on evolution for predator growth rates.

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Evidence-based and comprehensible health information is a key element of evidence-based medicine and public health. The goal is informed decision-making based on realistic estimations of health risks and accurate expectations about benefits and harms of interventions. In Germany, standards of evidence-based risk information were poorly followed during the COVID-19 pandemic.

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Background: While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and provides syndrome suggestions. GestaltMatcher matches patient images with similar facial features.

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Purpose: In recent years, the number of elderly cochlear implant (CI) candidates is continuously rising. In addition to the audiological improvement, other positive effects of CI treatment can also be observed in clinical routine. The "quality of life" as a parameter of success directly experienced by the patient is increasingly becoming the focus of clinical research.

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Background: The clinical picture of people with Ehlers-Danlos syndromes (EDS) is complex and involves a variety of potential causes of pain. This poses major challenges to patients and healthcare professionals alike in terms of diagnosis and management of the condition.

Objectives: The aim of the article was to provide an overview of the specific pain management needs of patients with EDS and address their background.

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  • Rare diseases are often diagnosed late due to their complex and varied symptoms, making diagnostic decision support systems (DDSS) a promising tool to speed up the process, though integration with existing systems remains a hurdle.
  • A systematic search found eight articles on DDSS that can assist in diagnosing rare diseases without needing electronic patient records, highlighting their pros and cons.
  • While tools like symptom checkers exist, they still face challenges such as data protection concerns and low acceptance, but they hold great potential for improving diagnosis rates for rare diseases.
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Objectives: Patient-level factors that influence compliance with a recommendation for CBT in nursing home residents diagnosed with depression were identified.

Methods: Within a cluster-randomized trial on stepped care for depression in nursing homes (DAVOS-study, Trial registration: DRKS00015686), participants received an intake interview administered by a licensed psychotherapist. If psychotherapy was required, patients were offered a referral for CBT.

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Background: Disease prevention and health promotion in and for old age have become increasingly more important. Nevertheless, more (national) research and implementation in practice is needed, as the international comparison shows.

Objective: To develop guiding principles for research and practice on prevention and health promotion in and for old age.

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Population medical genetics aims at translating clinically relevant findings from recent studies of large cohorts into healthcare for individuals. Genetic counseling concerning reproductive risks and options is still mainly based on family history, and consanguinity is viewed to increase the risk for recessive diseases regardless of the demographics. However, in an increasingly multi-ethnic society with diverse approaches to partner selection, healthcare professionals should also sharpen their intuition for the influence of different mating schemes in non-equilibrium dynamics.

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Although exercise guidelines now recommend exercise for patients with MCI, the long-term effects of exercise in patients with MCI has not been reviewed systematically. The aim was to assess (1) the effectiveness of exercise and physical activity (EXPA) interventions in improving long-term patient-relevant cognitive and non-cognitive outcomes in people with mild cognitive impairment, (2) how well the included trials reported details of the intervention, and (3) the extent to which reported endpoints were in line with patient preferences that were assessed in patient workshops. Following PRISMA guidelines, we performed a systematic review and meta-analysis including randomized controlled trials.

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Article Synopsis
  • The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
  • The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
  • The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.
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While the reciprocal effects of ecological and evolutionary dynamics are increasingly recognized as an important driver for biodiversity, detection of such eco-evolutionary feedbacks, their underlying mechanisms, and their consequences remains challenging. Eco-evolutionary dynamics occur at different spatial and temporal scales and can leave signatures at different levels of organization (e.g.

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Mitochondrial dysfunction is a hallmark of cellular senescence and many age-related neurodegenerative diseases. We therefore investigated the relationship between mitochondrial function in peripheral blood cells and cerebral energy metabolites in young and older sex-matched, physically and mentally healthy volunteers. Cross-sectional observational study involving 65 young (26.

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Non-pharmacological Therapies of Dementia - an Update Non-pharmacological interventions for people with dementia are intended to improve quality of life and well-being, alleviate psychopathological and behavioral symptoms, and also offer caregivers support and opportunities to promote resilience. Against the background of the multiple failures in the field of pharmacological-therapeutic research, these approaches have become increasingly important. This is an up-to-date overview of the most important non-drug interventions for people with dementia and related recommendations for therapeutic use according to the current state of research and the recommendations of AWMF S3 guideline "dementia".

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Our capacity to predict trajectories of ecosystem degradation and recovery is limited, especially when impairments are caused by multiple stressors. Recovery may be fast or slow and either complete or partial, sometimes result in novel ecosystem states or even fail completely. Here, we introduce the Asymmetric Response Concept (ARC) that provides a basis for exploring and predicting the pace and magnitude of ecological responses to, and release from, multiple stressors.

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Background: Non-pharmacological interventions for people with dementia are intended to improve quality of life and well-being, alleviate psychopathological and behavioral symptoms, and also offer caregivers support and opportunities to promote resilience. Against the background of the multiple failures in the field of pharmacological-therapeutic research, these approaches have become increasingly important.

Objective: An up-to-date overview of the most important non-drug interventions for people with dementia and related recommendations for therapeutic use.

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Mild cognitive impairment (MCI) is a common problem in old people, which can be distressing for patients and their families. The main feature of MCI is a decrease in cognitive performance with activities of daily living still unimpaired. The identification of treatable risk factors, recognition of early cognitive changes and a timely differential diagnosis, comprehensive information and counselling are important tasks in geriatric medicine.

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