Publications by authors named "Heller P"

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  • * Two specific DAMPs, HMGB1 and S100A8/A9, were found to be elevated in MF patients and linked to higher systemic inflammation and adverse clinical outcomes, such as anemia and lower survival rates.
  • * Monocytes in MF patients are hyperactivated and contribute to increased levels of S100A8/A9, while also showing a strong inflammatory response through Toll-like receptors TLR4 and TLR2, suggesting that DAMPs
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  • Almost one in three American households is struggling to pay for energy, and this problem is getting worse.
  • There are government programs to help, but the money hasn't been spread around fairly since 1984, while energy needs change in different places over time.
  • A new study uses smart computer methods to find out which areas need help the most, suggesting that more funds should go to families in southern states rather than northern ones.
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  • Correctly interpreting germline RUNX1 variants is crucial for diagnosing and managing FPD/AML (familial platelet disorder/acute myeloid leukemia).
  • The study highlights two families with significant FPD/AML characteristics that have missense variants at a crucial residue (Gly168), which are often misclassified as variants of unknown significance (VUS).
  • Evidence from computational analysis and observed platelet expression suggests these variants are likely pathogenic, indicating a need to revise RUNX1 classification guidelines to improve diagnostic accuracy.
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Knowledge on mental health consultations in immigration detention and characteristics of people receiving consultations is scarce. Based on a sample of 230 adult men in immigration detention in Switzerland, we aimed to: (1) Quantify the proportion of persons receiving mental health consultations during detention; and (2) Identify socio-demographic and clinical characteristics associated with mental health consultations. Retrospective observational study with a cross-sectional design.

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Background: Attention-deficit hyperactivity disorder (ADHD) is characterized by difficulty paying attention, poor impulse control, and hyperactive behavior. It is associated with several adverse health and social outcomes and leads to an increased risk of criminality and recidivism. Worldwide, ADHD is thus highly prevalent in prisons.

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Background: Multiple blood cell abnormalities participate in the development of inflammation in systemic lupus erythematosus (SLE). Although platelets have been suggested as one of these contributors through the release of their content during activation, there are limited specific data about their role as immune players in SLE.

Materials And Methods: Thirteen SLE patients were included.

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Myelofibrosis (MF) is a clonal hematopoietic stem cell disorder classified among chronic myeloproliferative neoplasms, characterized by exacerbated myeloid and megakaryocytic proliferation and bone marrow fibrosis. It is induced by driver (//) and high molecular risk mutations coupled to a sustained inflammatory state that contributes to disease pathogenesis. Patient outcome is determined by stratification into risk groups and refinement of current prognostic systems may help individualize treatment decisions.

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Despite receiving less attention than high-income countries, low- and middle-income countries (LMICs) experienced more than 85% of global excess deaths during the first two years of the COVID-19 pandemic. Due to the unprecedented speed and scale of the COVID-19 pandemic, which placed large demands on government capacity, many LMICs relied on civil society organizations (CSOs) to assist in implementing COVID-19 response programs. Yet few studies have examined the critical role CSOs played in mitigating the effects of the COVID-19 pandemic in low resource settings.

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Providing insights on refusal to participate in research is critical to achieve a better understanding of the non-response bias. Little is known on people who refused to participate, especially in hard-to-reach populations such as detained persons. This study investigated the potential non-response bias among detained persons, comparing participants who accepted or refused to sign a one-time general informed consent.

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Importance: Few studies are available on informed consent (IC) among detained persons, even with ethics being a critical aspect of prison research. In IC research, audiovisual material seems to improve understanding and satisfaction compared with conventional paper-based material, but findings remain unclear.

Objective: To compare audiovisual and paper-based materials for 1-time general IC for research in prisons.

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The intervention of the lawyer is of crucial importance after the sentencing of the institutional therapeutic measure for the treatment of mental disorders, especially in view of the concrete risk of never being released and the vulnerability of the convicted person due to his mental disorders. However, the intervention of the therapists in charge of the detainee's follow-up is essential in the context of the execution of the measure. In fact, it is on the basis of the evolution of the condition that led to the pronouncement of the measure that its extension can be considered.

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The practice of psychiatry and psychology in prisons is essential because of the high prevalence of mental disorders that is observed. Psychiatrists and psychologists, such as other health care professionals, should be affiliated to the health department and intervene in the therapeutic role, which must be distinguished from the role of the psychiatric expert mandated by the court. Therapy in prison is challenging because of the sometimes contradictory issues, at the interface of clinical, societal, security, legal and political fields.

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Cyanobacteria are important participants in global biogeochemical process, but their metabolic processes and genomic functions are incompletely understood. In particular, operon structure, which can provide valuable metabolic and genomic insight, is difficult to determine experimentally, and algorithmic operon predictions probably underestimate actual operon extent. A software method is presented for enhancing current operon predictions by incorporating information from whole-genome time-series expression studies, using a Machine Learning classifier.

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Our main objective was to provide estimates of the prevalence rates of psychiatric disorders and comorbidities among youths in a juvenile detention center in Geneva, Switzerland. We also aimed to investigate potential positive effects of intensive psychotherapeutic and educational services this center provides. Finally, we examined psychiatric care prior to and after custody as well as the evolution of the youths' mental health during detention.

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Bone marrow stromal cells provide a proper environment for the development of hematologic lineages. The incorporation of different stromal cells into in vitro culture systems would be an attractive model to study megakaryopoiesis and thrombopoiesis. Our objective was to evaluate the participation of different types of stromal cells in in vitro megakaryopoiesis, thrombopoiesis, and megakaryocyte (MK) survival.

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SummarySystemic lupus erythematosus (SLE) is an autoimmune condition developing thrombocytopenia in about 10-15% of cases, however, mechanisms leading to low platelet count were not deeply investigated in this illness. Here we studied possible causes of thrombocytopenia, including different mechanisms of platelet clearance and impairment in platelet production. Twenty-five SLE patients with and without thrombocytopenia were included.

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The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 mutations. Typical clinical features include macrothrombocytopenia, bleeding and elevated vitamin B12 levels, while bone marrow fibrosis and splenomegaly may develop during disease progression. Recently, the involvement of other blood lineages has been highlighted, revealing the role of NBEAL2 outside the megakaryocyte-platelet axis.

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Background: Benzodiazepines are commonly prescribed in prisons amidst the controversies surrounding their potential role in causing behavioral disinhibition and aggressive behavior and their association with use and trafficking of illicit and addictive substances. The present study aimed to (1) ascertain the relationship between benzodiazepine prescription (including their dosage and duration of use) and aggressive behavior and behavioral disinhibition in prison and (2) investigate whether there was an association between benzodiazepine prescription, (including their dosage and duration of use) and using and trafficking illicit and addictive substances during imprisonment.

Methods: Data were extracted from the electronic database of an "open" Swiss prison (n = 1206, 1379 measures) over a 5-year period (2010-2015).

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Background: The ISTH Bleeding Assessment Tool (ISTH-BAT) has been validated for clinical screening of suspected von Willebrand disease (VWD) and for bleeding prediction. Recently it has been validated for subjects with inherited platelet disorders (IPD) (BAT-VAL study).

Objectives: To determine whether the ISTH-BAT bleeding score (BS) predicts subsequent bleeding events requiring treatment in IPD patients.

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Hidden Markov Models (HMMs) are an essential tool for Bioinformatic analysis, with extensive success at finding patterns (e.g. CRISPR arrays or genes of interest) in DNA or protein sequences.

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Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification among different clinical laboratories, the American College of Medical Genetics and Genomics (ACMG), along with the Association for Molecular Pathology (AMP), published standards and guidelines for the interpretation of sequence variants in 2015. Because the rules are not universally applicable to different genes or disorders, the Clinical Genome Resource (ClinGen) Platelet Disorder Expert Panel (PD-EP) has been tasked to make ACMG/AMP rule specifications for inherited platelet disorders.

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Associations between executive and functional impairment, intelligence, and attention deficit hyperactivity disorder (ADHD) have been scarcely investigated among adult populations and lead to inconsistent results. This study tested the impact of intellectual level on executive and functional impairment in a clinical sample of adults diagnosed with ADHD. Participants were recruited in a specialized center for the diagnosis and treatment of ADHD (n=66, mean age=27.

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