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Sökning: WFRF:(Pasquali D.) > (2020-2024)

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1.
  • Glasbey, JC, et al. (författare)
  • 2021
  • swepub:Mat__t
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  • Drake, TM, et al. (författare)
  • Surgical site infection after gastrointestinal surgery in children: an international, multicentre, prospective cohort study
  • 2020
  • Ingår i: BMJ global health. - : BMJ. - 2059-7908. ; 5:12
  • Tidskriftsartikel (refereegranskat)abstract
    • Surgical site infection (SSI) is one of the most common healthcare-associated infections (HAIs). However, there is a lack of data available about SSI in children worldwide, especially from low-income and middle-income countries. This study aimed to estimate the incidence of SSI in children and associations between SSI and morbidity across human development settings.MethodsA multicentre, international, prospective, validated cohort study of children aged under 16 years undergoing clean-contaminated, contaminated or dirty gastrointestinal surgery. Any hospital in the world providing paediatric surgery was eligible to contribute data between January and July 2016. The primary outcome was the incidence of SSI by 30 days. Relationships between explanatory variables and SSI were examined using multilevel logistic regression. Countries were stratified into high development, middle development and low development groups using the United Nations Human Development Index (HDI).ResultsOf 1159 children across 181 hospitals in 51 countries, 523 (45·1%) children were from high HDI, 397 (34·2%) from middle HDI and 239 (20·6%) from low HDI countries. The 30-day SSI rate was 6.3% (33/523) in high HDI, 12·8% (51/397) in middle HDI and 24·7% (59/239) in low HDI countries. SSI was associated with higher incidence of 30-day mortality, intervention, organ-space infection and other HAIs, with the highest rates seen in low HDI countries. Median length of stay in patients who had an SSI was longer (7.0 days), compared with 3.0 days in patients who did not have an SSI. Use of laparoscopy was associated with significantly lower SSI rates, even after accounting for HDI.ConclusionThe odds of SSI in children is nearly four times greater in low HDI compared with high HDI countries. Policies to reduce SSI should be prioritised as part of the wider global agenda.
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  • Pasquali, D., et al. (författare)
  • BROX haploinsufficiency in familial nonmedullary thyroid cancer
  • 2021
  • Ingår i: Journal of Endocrinological Investigation. - : Springer Science and Business Media LLC. - 0391-4097 .- 1720-8386. ; 44, s. 165-171
  • Tidskriftsartikel (refereegranskat)abstract
    • Background The familial nonmedullary thyroid cancer (FNMTC) is suspected to be a Mendelian condition in up to 3-8% of thyroid cancers. The susceptibility chromosomal loci and genes of 95% of FNMTC cases remain to be characterized. The inheritance of FNMTC appears to be autosomal dominant with incomplete penetrance and variable expressivity. The finding of the causative gene of FNMTC and the identification of patients at risk that need genetic testing were our aim. Methods We analyzed by whole-exome sequencing patients and non-affected relatives of five families with at least two family members affected by papillary thyroid cancer, selecting for new or extremely rare variants with predicted pathogenic value. Results A family showed, in all three affected members, a new loss-of-function variant (frameshift deletion) in BROX gene at 1q41 that was absent from all internal and external databases. In a second family with three affected relatives, we found an additional new BROX variant. The smaller families presented no variants in BROX or in the other causative genes studied. Conclusions BROX could be a new causative gene for FNMTC. Variants in BROX may result in the haploinsufficiency of a key gene involved in the morphogenesis of MVBs, in the endosomal sorting of cargo proteins, and in EGFR. Functional studies are needed to support this result. The thorough genomic analysis by NGS in all families with three or more affected members should become a routine approach to obtain a comprehensive genetic view and find confirmative second cases.
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  • di Fraia, R., et al. (författare)
  • Increased prevalence of nodular thyroid disease in patients with Klinefelter syndrome
  • 2023
  • Ingår i: Endocrine. - 1355-008X. ; 81, s. 631-636
  • Tidskriftsartikel (refereegranskat)abstract
    • PurposeThyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved issue. Although low free thyroxine (FT4) levels within the normal range and normal thyroid stimulating hormone (TSH) levels have been reported, there is currently no data on nodular thyroid disease in this population. This study aims to evaluate the results of thyroid ultrasound (US) examinations in KS patients compared with healthy controls.MethodsA cohort of 122 KS and 85 age-matched healthy male controls underwent thyroid US screening and thyroid hormone analysis. According to US risk-stratification systems, nodules >= 1 cm were examined by fine needle aspiration (FNA).ResultsThyroid US detected nodular thyroid disease in 31% of KS compared to 13% of controls. No statistical differences in the maximum diameter of the largest nodules and in moderate and highly suspicious nodules were found between patients and the control group. Six KS patients and two controls with nodules underwent FNA and were confirmed as cytologically benign. In line with published data, FT4 levels were found significantly near the lower limit of the normal range compared to controls, with no differences in TSH values between the two groups. Hashimoto's thyroiditis was diagnosed in 9% of patients with KS.ConclusionsWe observed a significantly higher prevalence of nodular thyroid disease in KS compared to the control group. The increase in nodular thyroid disease is likely linked to low levels of FT4, inappropriate TSH secretion, and/or genetic instability.
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  • Fabrazzo, M., et al. (författare)
  • Quality of life in Klinefelter patients on testosterone replacement therapy compared to healthy controls: an observational study on the impact of psychological distress, personality traits, and coping strategies
  • 2021
  • Ingår i: Journal of Endocrinological Investigation. - : Springer Science and Business Media LLC. - 0391-4097 .- 1720-8386. ; 44:5, s. 1053-1063
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopathological recovery and a satisfactory quality of life in Klinefelter syndrome (KS) patients compared to matched healthy controls. Further, we analyzed personality traits and coping strategies, an issue not yet examined in androgen-treated KS patients. We also enquired whether any of the sociodemographic and psychological variables might predict a patient's general and sexual life satisfaction. Methods The Quality of Life Enjoyment and Satisfaction Questionnaire and the Temperament and Character Inventory-Revised were administered to both 23 KS patients and matched healthy subjects. Psychopathology was investigated by the Symptom Checklist-90-Revised (SCL-90-R) and the Mini-mental State Examination. The COPE Inventory was used to identify cognitive and behavioral strategies to manage disease-related distress. Results In testosterone-treated KS patients, when compared with controls, SCL-90-R subscales analysis evidenced high psychological distress, mainly presented as obsessive thoughts, hanger-hostility, phobias, and psychoticism. Self-directedness and self-transcendence, along with the prevalent use ofemotion-focusedcoping strategies, outlined the personality of our KS patients. Depression and somatization proved to be predictors of general life dissatisfaction. Depression, anger-hostility, and paranoid ideation, instead, emerged as predictors of sexual life dissatisfaction. Conclusion Endocrinologists should cooperate with mental health providers to foster a better outcome of the disease in KS patients.
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  • Docimo, G., et al. (författare)
  • The Human Microbiota in Endocrinology: Implications for Pathophysiology, Treatment, and Prognosis in Thyroid Diseases
  • 2020
  • Ingår i: Frontiers in Endocrinology. - : Frontiers Media SA. - 1664-2392. ; 11
  • Tidskriftsartikel (refereegranskat)abstract
    • The human microbiota is an integral component in the maintenance of health and of the immune system. Microbiome-wide association studies have found numerous diseases associated to dysbiosis. Studies are needed to move beyond correlations and begin to address causation. Autoimmune thyroid diseases (ATD) are one of the most common organ-specific autoimmune disorders with an increasing prevalence, higher than 5% worldwide. Most frequent manifestations of ATD are Hashimoto's thyroiditis and Graves' disease. The exact etiology of ATD remains unknown. Until now it is not clear whether bacterial infections can trigger ATD or modulate the efficacy of treatment and prognosis. The aim of our review is to characterize the microbiota and in ATD and to evaluate the impact of dysbiosis on treatment and prognosis. Moreover, variation of gut microbiome has been associated with thyroid cancer and benign nodules. Here we will characterize the microbioma in benign thyroid nodules, and papillary thyroid cancer to evaluate their implications in the pathophysiology and progression.
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  • Esposito, Daniela, et al. (författare)
  • Patients with adrenal insufficiency have cardiovascular features associated with hypovolemia
  • 2020
  • Ingår i: Endocrine. - : Springer Science and Business Media LLC. - 1355-008X .- 1559-0100. ; 70, s. 412-420
  • Tidskriftsartikel (refereegranskat)abstract
    • Context Patients with adrenal insufficiency (AI) have excess mortality and morbidity, mainly due to cardiovascular (CV) diseases. The mechanisms for this is unclear. Objective To assess CV structure and function in AI patients on conventional replacement therapy and after switching to once-daily, modified-release hydrocortisone (OD-HC) in comparison with healthy matched controls. Methods This was a retrospective analysis of 17 adult AI patients (11 with primary AI, 6 with secondary AI) on stable replacement with cortisone acetate [median (minimum, maximum) 33.5 (12.5-50) mg] and, if needed, fludrocortisone [0.1 (0.05-0.2) mg], and 17 healthy matched controls. Ten patients were switched to an equivalent dose of OD-HC. Data from echocardiography, 24 h Holter-ECG and 24 h blood pressure monitoring were collected at baseline and 6 months after the switch to OD-HC. Results At baseline, AI patients had smaller left ventricular diastolic diameter (47.1 +/- 4.2 vs. 51.6 +/- 2.3 mm;P = 0.001) and left atrial diameter (34.9 +/- 4.7 vs. 38.2 +/- 2.6 cm;P = 0.018), and a higher ejection fraction (62.5 +/- 6.9% vs. 56.0 +/- 4.7%;P = 0.003) than controls. AI patients had lower nocturnal systolic and diastolic blood pressure than controls (108 +/- 15 mmHg vs. 117 +/- 8 mmHg;P = 0.038 and 65 +/- 9 mmHg vs. 73 +/- 7 mmHg;P = 0.008, respectively). After the switch to OD-HC, nocturnal diastolic blood pressure normalised. No significant changes were observed in echocardiographic and Holter-ECG parameters following the switch. Conclusions AI patients on conventional treatment display cardiovascular abnormalities that could be related to hypovolemia. Switch to OD-HC seems to have beneficial effect on blood pressure profile, but no effect on cardiovascular structure and function.
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  • Ramírez-Tannus, M. C., et al. (författare)
  • The young stellar content of the giant H ii regions M8, G333.6 0.2, and NGC6357 with VLT/KMOS
  • 2020
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 633
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. The identification and characterisation of populations of young massive stars in (giant) HII regions provides important constraints on (i) the formation process of massive stars and their early feedback on the environment, and (ii) the initial conditions for population synthesis models predicting the evolution of ensembles of stars. Aims. We identify and characterise the stellar populations of the following young giant HII regions: M 8, G333.6-0.2, and NGC 6357. Methods. We have acquired H- and K-band spectra of around 200 stars using the K-band Multi Object Spectrograph on the ESO Very Large Telescope. The targets for M 8 and NGC 6357 were selected from the Massive Young Star-Forming Complex Study in Infrared and X-ray (MYStIX), which combines X-ray observations with near-infrared (NIR) and mid-infrared data. For G333.6-0.2, the sample selection is based on the NIR colours combined with X-ray data. We introduce an automatic spectral classification method in order to obtain temperatures and luminosities for the observed stars. We analysed the stellar populations using their photometric, astrometric, and spectroscopic properties and compared the position of the stars in the Hertzprung-Russell diagram with stellar evolution models to constrain their ages and mass ranges. Results. We confirm the presence of candidate ionising sources in the three regions and report new ones, including the first spectroscopically identified O stars in G333.6-0.2. In M 8 and NGC 6357, two populations are identified: (i) OB main-sequence stars (M> 5 M-circle dot) and (ii) pre-main sequence stars (M approximate to 0.5 - 5M(circle dot)). The ages of the clusters are similar to 1-3 Myr, < 3 Myr, and similar to 0.5-3 Myr for M 8, G333.6-0.2, and NGC 6357, respectively. We show that MYStIX selected targets have > 90% probability of being members of the HII region, whereas a selection based on NIR colours leads to a membership probability of only similar to 70%.
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