42 research outputs found

    t(9;11)(p22;p15)

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    Review on t(9;11)(p22;p15), with data on clinics, and the genes involved

    Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498).

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    Congenital amegakaryocytic thrombocytopenia (CAMT, OMIM 604498) is an autosomal recessive disorder characterized by absent or reduced number of megakaryocytes in the bone marrow (BM) since birth, elevated serum levels of thrombopoietin (TPO), and very low platelet count. Prognosis of CAMT patient

    Off-label long acting injectable antipsychotics in real-world clinical practice: a cross-sectional analysis of prescriptive patterns from the STAR Network DEPOT study

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    Introduction Information on the off-label use of Long-Acting Injectable (LAI) antipsychotics in the real world is lacking. In this study, we aimed to identify the sociodemographic and clinical features of patients treated with on- vs off-label LAIs and predictors of off-label First- or Second-Generation Antipsychotic (FGA vs. SGA) LAI choice in everyday clinical practice. Method In a naturalistic national cohort of 449 patients who initiated LAI treatment in the STAR Network Depot Study, two groups were identified based on off- or on-label prescriptions. A multivariate logistic regression analysis was used to test several clinically relevant variables and identify those associated with the choice of FGA vs SGA prescription in the off-label group. Results SGA LAIs were more commonly prescribed in everyday practice, without significant differences in their on- and off-label use. Approximately 1 in 4 patients received an off-label prescription. In the off-label group, the most frequent diagnoses were bipolar disorder (67.5%) or any personality disorder (23.7%). FGA vs SGA LAI choice was significantly associated with BPRS thought disorder (OR = 1.22, CI95% 1.04 to 1.43, p = 0.015) and hostility/suspiciousness (OR = 0.83, CI95% 0.71 to 0.97, p = 0.017) dimensions. The likelihood of receiving an SGA LAI grew steadily with the increase of the BPRS thought disturbance score. Conversely, a preference towards prescribing an FGA was observed with higher scores at the BPRS hostility/suspiciousness subscale. Conclusion Our study is the first to identify predictors of FGA vs SGA choice in patients treated with off-label LAI antipsychotics. Demographic characteristics, i.e. age, sex, and substance/alcohol use co-morbidities did not appear to influence the choice towards FGAs or SGAs. Despite a lack of evidence, clinicians tend to favour FGA over SGA LAIs in bipolar or personality disorder patients with relevant hostility. Further research is needed to evaluate treatment adherence and clinical effectiveness of these prescriptive patterns

    The Role of Attitudes Toward Medication and Treatment Adherence in the Clinical Response to LAIs: Findings From the STAR Network Depot Study

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    Background: Long-acting injectable (LAI) antipsychotics are efficacious in managing psychotic symptoms in people affected by severe mental disorders, such as schizophrenia and bipolar disorder. The present study aimed to investigate whether attitude toward treatment and treatment adherence represent predictors of symptoms changes over time. Methods: The STAR Network \u201cDepot Study\u201d was a naturalistic, multicenter, observational, prospective study that enrolled people initiating a LAI without restrictions on diagnosis, clinical severity or setting. Participants from 32 Italian centers were assessed at three time points: baseline, 6-month, and 12-month follow-up. Psychopathological symptoms, attitude toward medication and treatment adherence were measured using the Brief Psychiatric Rating Scale (BPRS), the Drug Attitude Inventory (DAI-10) and the Kemp's 7-point scale, respectively. Linear mixed-effects models were used to evaluate whether attitude toward medication and treatment adherence independently predicted symptoms changes over time. Analyses were conducted on the overall sample and then stratified according to the baseline severity (BPRS < 41 or BPRS 65 41). Results: We included 461 participants of which 276 were males. The majority of participants had received a primary diagnosis of a schizophrenia spectrum disorder (71.80%) and initiated a treatment with a second-generation LAI (69.63%). BPRS, DAI-10, and Kemp's scale scores improved over time. Six linear regressions\u2014conducted considering the outcome and predictors at baseline, 6-month, and 12-month follow-up independently\u2014showed that both DAI-10 and Kemp's scale negatively associated with BPRS scores at the three considered time points. Linear mixed-effects models conducted on the overall sample did not show any significant association between attitude toward medication or treatment adherence and changes in psychiatric symptoms over time. However, after stratification according to baseline severity, we found that both DAI-10 and Kemp's scale negatively predicted changes in BPRS scores at 12-month follow-up regardless of baseline severity. The association at 6-month follow-up was confirmed only in the group with moderate or severe symptoms at baseline. Conclusion: Our findings corroborate the importance of improving the quality of relationship between clinicians and patients. Shared decision making and thorough discussions about benefits and side effects may improve the outcome in patients with severe mental disorders

    Hyperoxemia and excess oxygen use in early acute respiratory distress syndrome : Insights from the LUNG SAFE study

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    Publisher Copyright: © 2020 The Author(s). Copyright: Copyright 2020 Elsevier B.V., All rights reserved.Background: Concerns exist regarding the prevalence and impact of unnecessary oxygen use in patients with acute respiratory distress syndrome (ARDS). We examined this issue in patients with ARDS enrolled in the Large observational study to UNderstand the Global impact of Severe Acute respiratory FailurE (LUNG SAFE) study. Methods: In this secondary analysis of the LUNG SAFE study, we wished to determine the prevalence and the outcomes associated with hyperoxemia on day 1, sustained hyperoxemia, and excessive oxygen use in patients with early ARDS. Patients who fulfilled criteria of ARDS on day 1 and day 2 of acute hypoxemic respiratory failure were categorized based on the presence of hyperoxemia (PaO2 > 100 mmHg) on day 1, sustained (i.e., present on day 1 and day 2) hyperoxemia, or excessive oxygen use (FIO2 ≄ 0.60 during hyperoxemia). Results: Of 2005 patients that met the inclusion criteria, 131 (6.5%) were hypoxemic (PaO2 < 55 mmHg), 607 (30%) had hyperoxemia on day 1, and 250 (12%) had sustained hyperoxemia. Excess FIO2 use occurred in 400 (66%) out of 607 patients with hyperoxemia. Excess FIO2 use decreased from day 1 to day 2 of ARDS, with most hyperoxemic patients on day 2 receiving relatively low FIO2. Multivariate analyses found no independent relationship between day 1 hyperoxemia, sustained hyperoxemia, or excess FIO2 use and adverse clinical outcomes. Mortality was 42% in patients with excess FIO2 use, compared to 39% in a propensity-matched sample of normoxemic (PaO2 55-100 mmHg) patients (P = 0.47). Conclusions: Hyperoxemia and excess oxygen use are both prevalent in early ARDS but are most often non-sustained. No relationship was found between hyperoxemia or excessive oxygen use and patient outcome in this cohort. Trial registration: LUNG-SAFE is registered with ClinicalTrials.gov, NCT02010073publishersversionPeer reviewe

    COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

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    Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≀ 18 years: 69, 48, 23; 85%), older adults (≄ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P &lt; 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

    Otolith Analyses Highlight Morpho-Functional Differences of Three Species of Mullet (Mugilidae) from Transitional Water

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    Otoliths are used in taxonomy and ichthyology as they can provide a wide range of information about specimens. They are an essential tool to monitor the most sensitive species for a sustainable exploitation level. Despite the increasing use of sagittae in research, their inter- and intra-specific variability and eco-functionality are still poorly explored. This paper aims to investigate the inter- and intra-specific variability of Mugilidae sagittae using morphological and morphometrical analysis, as well as scanning electron microscopy and shape analysis. The sagittae of 74 specimens belonging to three different Mugilidae species, collected from a coastal lagoon, were analyzed to give an accurate description of their morphology, morphometry, shape and crystalline habits. The results highlighted the intra- and inter-specific variability of sagittae, showing morphometrical differences among species and slight differences between left and right sagittae in C. labrosus individuals. Moreover, SEM images showed a peculiar crystal organization, with several different crystal habits and polymorphs. This study provides an accurate description of sagittae in the studied species, deepening the knowledge on inter- and intra-specific variations and crystal habits and providing data which will be useful for future studies on otoliths. With this data, it will be possible to improve conservation and exploitation sustainability in sensitive habitats

    Otolith Analyses Highlight Morpho-Functional Differences of Three Species of Mullet (Mugilidae) from Transitional Water

    No full text
    Otoliths are used in taxonomy and ichthyology as they can provide a wide range of information about specimens. They are an essential tool to monitor the most sensitive species for a sustainable exploitation level. Despite the increasing use of sagittae in research, their inter- and intra-specific variability and eco-functionality are still poorly explored. This paper aims to investigate the inter- and intra-specific variability of Mugilidae sagittae using morphological and morphometrical analysis, as well as scanning electron microscopy and shape analysis. The sagittae of 74 specimens belonging to three different Mugilidae species, collected from a coastal lagoon, were analyzed to give an accurate description of their morphology, morphometry, shape and crystalline habits. The results highlighted the intra- and inter-specific variability of sagittae, showing morphometrical differences among species and slight differences between left and right sagittae in C. labrosus individuals. Moreover, SEM images showed a peculiar crystal organization, with several different crystal habits and polymorphs. This study provides an accurate description of sagittae in the studied species, deepening the knowledge on inter- and intra-specific variations and crystal habits and providing data which will be useful for future studies on otoliths. With this data, it will be possible to improve conservation and exploitation sustainability in sensitive habitats

    Occurrence of Anthropogenic Debris in Three Commercial Shrimp Species from South-Western Ionian Sea

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    Deep Sea environments represent the final collector of anthropogenic debris mainly represented by both plastic and non-plastic materials with different size. This led to potential contamination of deep marine fauna due to direct and indirect ingestion, representing a potential hazard for the species itself and for the final consumer. In this framework, the present study explored the occurrence of anthropogenic debris in the gastrointestinal tract of three Decapoda species of high commercial and ecological value (Parapenaeus longirostris, Aristeus antennatus, and Aristaeomorpha foliacea) from south-western Ionian Sea. After morphometrical measurements and sex determination, the gastrointestinal tract of 136 specimens were extracted and then chemically digested. A total of 230 low density microparticles were isolated, with a high frequency of occurrence in all the analyzed species (76% in P. longirostris, 70% in A. antennatus, and 83% in A. foliacea) mainly represented by fibers (92.6%) with a size between 0.10 and 0.49 mm, and with a dominance of the blue color. The results of the present study report for the first time the anthropogenic debris presence in the studied Decapoda from south-western Ionian Sea, highlighting the necessity to broaden the knowledge about anthropogenic debris pollution status in Mediterranean deep-sea species
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