13 research outputs found
Quality of life and treatment satisfaction in adults with Type 1 diabetes: A comparison between continuous subcutaneous insulin infusion and multiple daily injections
Aims: The aim of this case-control study was to compare quality of life (QoL) and treatment satisfaction in adults with Type 1 diabetes (T1DM) treated with either continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). Methods: Consecutive patients aged between 18 and 55 years, and attending diabetes clinics for a routine visit, completed the Diabetes-Specific Quality-of-Life Scale (DSQOLS), the Diabetes Treatment Satisfaction Questionnaire (DTSQ) and the SF-36 Health Survey (SF-36). Case (CSII) and control subjects (MDI) were recruited in a 1 : 2 ratio. Results: Overall, 1341 individuals were enrolled by 62 diabetes clinics; 481 were cases and 860 control subjects. Cases had a longer diabetes duration and were more likely to have eye and renal complications. Age, school education, occupation and HbA1c were similar. Of control subjects, 90% followed glargine-based MDI regimens and 10% used NPH-based MDI regimens. On multivariate analysis, after adjusting for socioeconomic and clinical characteristics, scores in the following areas of the DSQOLS were higher in cases than control subjects: diet restrictions (β = 5.96; P < 0.0001), daily hassles (β = 3.57; P = 0.01) and fears about hypoglycaemia (β = 3.88; P = 0.006). Treatment with CSII was also associated with a markedly higher DTSQ score (β = 4.13; P < 0.0001) compared with MDI. Results were similar when CSII was compared separately with glargine- or NPH-based MDI regimens. Conclusions: This large, non-randomized, case-control study suggests quality of life gains deriving from greater lifestyle flexibility, less fear of hypoglycaemia, and higher treatment satisfaction, when CSII is compared with either glargine-based or NPH-based MDI regimens. © 2008 The Authors
Human papillomavirus typing of invasive cervical cancers in Italy
Abstract Background Human papilloma viruses (HPV) are the necessary cause of invasive cervical cancer (ICC). Of the many different types identified so far, only a few of them account for the great majority of cases worldwide, with geographical differences in their distribution. Data on the local distribution are now of interest in view of the soon-to-come introduction of HPV type-specific prophylactic vaccines. Results We have investigated HPV type distribution in samples of 48 ICC cases occurred in women living in North-East Italy in the years 1997–1999. Cases were extracted from the Venetian Tumour Registry files, as incident cases whose specimens had been processed in two Pathology Departments. Search and typing were performed by polymerase chain reaction (PCR) using GP5+/GP6+ primers, followed by direct sequencing or reverse dot blot. Three cases were PCR negative using the housekeeping primers and hence excluded. One case was negative by all HPV tests used. HPV 16 was present in 32 (72.7%) cases, as single infection in 28, in mixed infection in 4. Of the 44 positive cases, HPV 16 and HPV 18 accounted for 33 (75%), as single or mixed infections. The other high risk HPV types accounted for 11 (25%) of the remaining infections. Of the 32 HPV 16 positive cases, sequencing of the E6 gene could be performed in 25; the prototype isolate was identified in 7, and the variant T350G in 18; in 4 cases one or more additional mutations were present. Conclusions Our results suggest that HPV 16 has a very high prevalence among women with invasive cervical cancer in Italy; therefore, the use of a prophylactic vaccine for HPV types 16 and 18 could prevent up to 75% of invasive cervical cancers in Italy.</p
Malignant form of atrophic papulosis with lethal abdominal involvement
Atrophic papulosis (Kohlmeier\u2013Degos disease or Degos disease) is a rare occlusive arteriopathy involving small-calibre vessels of the dermis, gastrointestinal tract, central nervous system (CNS) and occasionally other organs.
It would appear to be a vasculopathy or an endovasculitis, with a purely cutaneous benign variant and a systemic variant with cutaneous manifestations (malignant atrophic papulosis).
Gastrointestinal involvement is the most frequent and lethal systemic complication.
This is the most common cause of death, followed, less frequently, by CNS bleeding, and pleural or pericardial involvement
Polysaccharides from pinhĂŁo seeds of Araucaria angustifolia : Extraction, isolation and structural characterization
Araucaria angustifolia is one of the main conifer species with great economic importance. Its seeds, known as pinhão, play a fundamental role in ecosystem conservation and have promising potential for application in the food/nutraceutical industry. This study aimed to elucidate the fine chemical structure of polysaccharides, showing for the first time the composition of non-starch polysaccharides present in the pinhão seeds. For this, the seeds were submitted to sequential extractions giving rise to the water polysaccharide (PW), and alkaline polysaccharides (PA2M), and (PA4M) fractions, obtained after aqueous, 2 mol L-1 and 4 mol L-1 NaOH extraction, respectively. The polysaccharides isolated showed the presence of glucose (between 96.8% and 76.3%) indicating starch as the main component of all fractions. Moreover, after enzymatic treatment, the PA4M-A fraction was obtained showing mostly arabinose in its monosaccharide composition. In this way, the chemical structure of PA4M-A was investigated by 1D 1H, 13C NMR and 2D 1H–13C HSQC, 1H–1H COSY and 1H–13C HMBC NMR spectroscopy, which demonstrated the presence of arabinans composed with a backbone of (1→5)-linked-α-L-arabinofuranosyl units substituted in O-2 and/or O-3 position by α-L-Araf-(1→ or α-L-Araf-(1→3)-α-L-Araf-(1→ side chains. The structural elucidation of the arabinans presents in the pinhão cell wall contributes to the knowledge of the molecular structure of the A.angustifolia seeds.</p
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
Background and objective: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far. Methods: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories. Data included a minimal clinical dataset, the complete list of variants included in the diagnostic report, and final interpretation (positive/negative/inconclusive). Patients were further stratified based on age at onset ≤40 years (very EOPD, n = 157). All variants were reclassified according to the latest American College of Medical Genetics and Genomics criteria. For classification purposes, PD-associated GBA1 variants were considered diagnostic. Results: In 186 of 648 (29%) patients, the diagnostic report listed at least one variant, and the outcome was considered diagnostic (positive) in 105 (16%). After reanalysis, diagnosis changed in 18 of 186 (10%) patients, with 5 shifting from inconclusive to positive and 13 former positive being reclassified as inconclusive. A definite diagnosis was eventually reached in 97 (15%) patients, of whom the majority carried GBA1 variants or, less frequently, biallelic PRKN variants. In 89 (14%) cases, the genetic report was inconclusive. Conclusions: This study attempts to harmonize reporting of PD genetic testing across several diagnostic labs and highlights current difficulties in interpreting genetic variants emerging from NGS-multigene panels, with relevant implications for counseling. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society