214 results match your criteria: "Central Hospital of Bolzano[Affiliation]"

Genotype-phenotype correlations in patients with de novo pathogenic variants.

Neurol Genet

December 2020

Department of Neurosciences (F. Malerba, G.B., E.A., A. Riva, V.S., L.N., C. Minetti, F.Z., P.S.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova; Pediatric Neurology and Muscular Diseases Unit (F. Malerba, G.B., F. Marchese, E.A., A. Riva, M.S.V., V.S., C. Minetti, P.S.), IRCCS Istituto G. Gaslini; Center for Synaptic Neuroscience and Technology (NSYN@UniGe) (G.A., L.M., F.B.), Istituto Italiano di Tecnologia; Department of Experimental Medicine (G.A.), Università degli Studi di Genova; Laboratory of Human Genetics (E.G.); Unit of Medical Genetics (F. Madia, F.Z.), IRCCS Istituto G. Gaslini, Genova, Italy; Child Neurology and Neurorehabilitation Unit (M.A.), Department of Pediatrics, Central Hospital of Bolzano, Bolzano; Child Neurology and Psychiatry Unit (L.G., P.A., P.M.), ASST Spedali Civili, Brescia; Neurology Unit (M. Trivisano, N.S.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Roma; Child Neurology Unit (A. Russo, G.G.), IRCCS, Institute of Neurological Sciences of Bologna; Child Neuropsychiatry Unit (F.R.), U.O.N.P.I.A. ASST-Rhodense, Rho, Milano; Neurology Unit and Laboratories (T.P.), A. Meyer Children's Hospital, Firenze; Child Neurology and Psychiatric Unit (C. Marini), Pediatric Hospital G. Salesi, United Hospital of Ancona; Child Neuropsychiatry Unit (M.M.M., L.N.), IRCCS Istituto G. Gaslini, Genova; Department of Pediatric Neuroscience (E.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta; Unit of Genetics of Neurodegenerative and Metabolic Diseases (B. Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Child Neuropsychiatry (G.C.), Epilepsy Center, C. Poma Hospital, Mantova; Fondazione Poliambulanza Brescia (G.C.); Epilepsy Center (A.C.), Department of Neuroscience, Reproductive and Odontostomatological Sciences, Università degli Studi di Napoli Federico II, Napoli; Department of Pediatrics (A.V.), University of Perugia; Section of Pharmacology (F. Miceli, M. Taglialatela), Department of Neuroscience, Reproductive and Odontostomatological Sciences, Università degli Studi di Napoli Federico II, Napoli; IRCCS Ospedale Policlinico San Martino (L.M., F.B.), Genova, Italy; Division of Pediatric Neurology (M.R.C.), Saint-Luc University Hospital, and Institute of Experimental and Clinical Research (IREC), Université Catholique de Louvain, Brussels, Belgium; Department of Epilepsy Genetics and Personalized Treatment (K.M.J., R.S.M.), The Danish Epilepsy Center Filadelfia, Dianalund, Denmark; Institute for Regional Health Services (K.M.J., R.S.M.), University of Southern Denmark, Odense, Denmark; Department of Neurology (B. Ceulemans, S.W.), University Hospital Antwerp; Applied & Translational Neurogenomics Group (S.W.), VIB-Center for Molecular Neurology; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; and Department of Life and Environmental Sciences (L.M.), Polytechnic University of Marche, Ancona, Italy.

Article Synopsis
  • The study focuses on identifying de novo pathogenic variants in epilepsy patients to improve management and prognostic understanding.
  • A cohort of 34 patients from Italy, Denmark, and Belgium showed that although many had severe cognitive disabilities, a significant portion were able to achieve seizure freedom.
  • The research identified 28 variants primarily in conserved regions of a protein; however, it found no clear correlation between the location of these variants and the clinical outcomes, indicating the need for further investigation into the complexity of genetic impacts.
View Article and Find Full Text PDF

[Not Available].

J Dtsch Dermatol Ges

January 2021

Department of Dermatology, Venereology and Allergology, Academic Teaching Department of Medical University Innsbruck, Central Hospital Bolzano/Bozen, Italy.

View Article and Find Full Text PDF

Objectives: To assess the delay between the disease onset and the beginning of methotrexate (MTX) treatment in RA patients and to evaluate the Italian rheumatologists' adherence to the EULAR 2013 recommendations.

Methods: MITRA is an Italian multicentre observational study carried out on DMARD-naïve RA patients recruited in an 18-month period starting from 2015. The data related to the patients' characteristics at baseline will be presented.

View Article and Find Full Text PDF

The aim of our study was to evaluate the disposition of individuals with type 2 diabetes mellitus (DM2) toward changing their nutritional and physical activity habits and associated factors-particularly their perceptions about interacting and communicating with four health professions. Working with a local patients' association, we invited 364 individuals with DM2, all at least 18 years old, to complete a paper-based survey with questions addressing their experiences of interacting and communicating with general practitioners, nurses, dieticians and diabetologists and about their readiness to change targeted habits, their health literacy and their clinical status. Of the 109 questionnaires collected, 100 were eligible for descriptive and inferential statistical analysis.

View Article and Find Full Text PDF

Background: Food patterns and alcohol consumption influence the risk for cardiovascular diseases (CVD) and a healthy nutrition is essential for the prevention of CVD. The aim of this study was to determine the influence of nutrition and alcohol consumption on peripheral atherosclerotic plaque volume (PV) using an innovative 3D ultrasound approach.

Methods: In this prospective, single centre study we included 342 patients with at least one cardiovascular risk factor or established CVD.

View Article and Find Full Text PDF

Introduction: Diabetes mellitus type 2 (DM2), one of the four most important chronic diseases worldwide, is generally considered to be preventable. However, it is not yet sufficiently clear whether an aligned collaboration between different health professions could facilitate behavioral changes to be made by patients with DM2 regarding their eating and physical activity habits.

Objective: To explore if and how far in current outpatient care for 3 health-care professions it is an objective to collaborate with each other supporting patients with DM2 in changing their eating and physical activity habits.

View Article and Find Full Text PDF

Background And Objectives: We examined retrospectively whether the combination of standard dacarbazine (DTIC) and/or fotemustine chemotherapy and autologous peptide-loaded dendritic cell (DC) vaccination may improve survival of stage IV melanoma patients. Furthermore, a small cohort of long-term survivors was studied in more detail.

Patients And Methods: Between 1998 and 2008, 41 patients were vaccinated at least three times with DCs while receiving chemotherapy and compared to all other 168 patients in our database who only received chemotherapy (1993-2008).

View Article and Find Full Text PDF

Introduction: The purpose of this study was to evaluate the effectiveness and long-term results of selective transarterial iliac embolization (STIE) in patients with intractable bladder haemorrhage (IBH).

Methods: Twenty-five patients with a median age of 84 (range 65-94) years underwent STIE because of IBH between 2002 and 2020. The median follow-up time was 3 (mean 13.

View Article and Find Full Text PDF

Guidance for the Management of Patients with Vascular Disease or Cardiovascular Risk Factors and COVID-19: Position Paper from VAS-European Independent Foundation in Angiology/Vascular Medicine.

Thromb Haemost

December 2020

Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Peking University Health Science Center, Capital Medical University, Beijing, China.

COVID-19 is also manifested with hypercoagulability, pulmonary intravascular coagulation, microangiopathy, and venous thromboembolism (VTE) or arterial thrombosis. Predisposing risk factors to severe COVID-19 are male sex, underlying cardiovascular disease, or cardiovascular risk factors including noncontrolled diabetes mellitus or arterial hypertension, obesity, and advanced age. The VAS-European Independent Foundation in Angiology/Vascular Medicine draws attention to patients with vascular disease (VD) and presents an integral strategy for the management of patients with VD or cardiovascular risk factors (VD-CVR) and COVID-19.

View Article and Find Full Text PDF

Objective: To prospectively study the impact of smoking on pathological response to neoadjuvant chemotherapy (NAC) in patients undergoing radical cystectomy (RC) for urothelial carcinoma of the bladder (UCB).

Materials & Methods: We collected standard clinicopathological variables, including smoking status (never, former, current) in patients undergoing NAC and RC for UCB at 12 European tertiary care centers between 12/2013-12/2015. Clinicopathological variables were compared according to smoking status.

View Article and Find Full Text PDF

Background/objectives: Inflammation represents a cornerstone in the development of atherosclerosis and early detection is essential to avoid cardiovascular events. Biomarkers like interleukin-1 beta, interleukin-6, or high sensitivity CRP (hs-CRP) have been investigated intensively in this field. Since they have several limitations, additional biomarkers are needed for cardiovascular risk stratification.

View Article and Find Full Text PDF

Background: Bacillus Calmette-Guérin (BCG) immunotherapy, the standard adjuvant intravesical therapy for some intermediate and most high-risk non-muscle invasive bladder cancers (NMIBCs), suffers from a heterogenous response rate. Molecular markers to help guide responses are scarce and currently not used in the clinical setting.

Methods: To identify novel biomarkers and pathways involved in response to BCG immunotherapy, we performed a genome-wide DNA methylation analysis of NMIBCs before BCG therapy.

View Article and Find Full Text PDF

Feasibility and clinical impact of out-of-ICU noninvasive respiratory support in patients with COVID-19-related pneumonia.

Eur Respir J

November 2020

Alma Mater Studiorum - Università di Bologna, Dipartimento di Scienze Mediche e Chirurgiche, Infectious Diseases Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Introduction: The severe acute respiratory syndrome-coronavirus 2 outbreak spread rapidly in Italy and the lack of intensive care unit (ICU) beds soon became evident, forcing the application of noninvasive respiratory support (NRS) outside the ICU, raising concerns over staff contamination. We aimed to analyse the safety of the hospital staff and the feasibility and outcomes of NRS applied to patients outside the ICU.

Methods: In this observational study, data from 670 consecutive patients with confirmed coronavirus disease 2019 referred to pulmonology units in nine hospitals between March 1 and May 10, 2020 were analysed.

View Article and Find Full Text PDF

Background: Asymptomatic severe iron deficiency anemia is a common finding in subjects admitted to the outpatient anemia clinic. Although the condition can be easily be reversed with intravenous iron (IVI) therapy and several guidelines have suggested a restrictive threshold for using transfusion in hemodynamically stable patients, transfusion is often the rule in clinical practice. This study describes clinical practice results of IVI therapy without transfusion.

View Article and Find Full Text PDF

The optimal first-line treatment for advanced-stage Hodgkin's lymphoma (HL) is still a matter of debate. While ABVD is less toxic and as effective as other, more intensive chemotherapy regimens, escalated BEACOPP (BEACOPPesc) is superior to ABVD for initial disease control and prolonged time-to-relapse. However, this advantage is associated with higher rate of early and late toxicities.

View Article and Find Full Text PDF

Background: Patient-related factors, namely comorbidities, impact the clinical outcome of patients with diffuse large B-cell lymphoma (DLBCL).

Methods: The prevalence and prognostic impact of comorbidities were examined using the validated scores Charlson Comorbidity Index (CCI) and Hematopoietic Cell Transplantation-specific Comorbidity Index (HCT-CI) in 181 patients with DLBCL at initial diagnosis before treatment with rituximab, cyclophosphamide, vincristine, doxorubicin and prednisone (R-CHOP).

Results: Pronounced comorbidities as defined by CCI and HCT-CI scoring of ≥2 were detected in 9.

View Article and Find Full Text PDF

Introduction: Transthoracic echocardiography with bubble test is an accurate, reproducible, and safe technique to verify the location of the tip of the central venous catheter. The aim of this study is to confirm the effectiveness of this method for tip location in patients with atrial arrhythmia.

Methods: Transthoracic echocardiography with bubble test was adopted as a method of tip location in patients with atrial arrhythmia requiring central venous catheter.

View Article and Find Full Text PDF

Sleep problems are a common complaint in children/adolescents with autism spectrum disorder (ASD). Correctly diagnosing and treating sleep problems in individuals with ASD is key, as they can add to the psychosocial burden of the disorder and exacerbate associated symptoms, such as inattention or irritability. Here, we provide an overview of the epidemiology, diagnosis, and management of sleep problems/disorders in children and adolescents with ASD.

View Article and Find Full Text PDF

Background: The objective of the current study was to compare the diagnostic accuracy of 2 new real-time polymerase chain reaction-based urinary markers with each other and with urinary cytology, cystoscopy, and/or histology in patients being followed for non-muscle-invasive bladder cancer.

Methods: A total of 487 patients were enrolled in the study. Patients were evaluated using voided urine cytology, the Xpert Bladder Cancer Monitor, the Bladder EpiCheck test, and white light cystoscopy.

View Article and Find Full Text PDF

FDG PET/CT in the Staging of Lung Cancer.

Curr Radiopharm

September 2021

Department of Nuclear Medicine, Central Hospital of Bolzano, Via Lorenz Böhler 5, 39100 Bolzano, Bozen, Italy.

Background: Accurate staging is crucial for the proper management of patients with nonsmall cell lung cancer, especially for choosing the best treatment strategy. Different Imaging methods are used to stage patients with non-small cell lung cancer. In the last two decades, FDG PET/CT is carried out in almost all the main Hospitals around the world in this setting.

View Article and Find Full Text PDF

Background: The aim of this study was to evaluate the efficacy and safety of ferric carboxymaltose in rheumatic patients with iron deficiency anaemia.

Materials And Methods: The study retrospectively evaluated a cohort of 34 patients with iron deficiency anaemia affected by inflammatory rheumatic diseases that are refractory or intolerant to oral iron therapy. They were treated with ferric carboxymaltose for a total of 56 cycles of treatment.

View Article and Find Full Text PDF