Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening

Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C>T (T404I) and a single base deletion c594delC. All patients were compound heterozygous for the D444H amino acid substitution showing that this mutation is also common in Italian patients affected by partial biotinidase deficiency.     

Small bowel occlusion due to giant perineal hernia: abdominal approach with plastic perineal reconstruction

A perineal hernia is defined as a protrusion of peritoneal or extraperitoneal content through a pelvic floor defect. A 64-year-old woman with a bowel occlusions due to a giant postoperative perineal hernia was admitted to our hospital. We describe abdominal approach with plastic perineal reconstruction.     

Diagnosis of venous and arterial thromboembolic events in COVID-19 virus-infected patients

Journal of Thrombosis and Thrombolysis -     

Randomized placebo-controlled trial of mitoxantrone in relapsing-remitting multiple sclerosis: 24-month clinical and MRI outcome

We designed a randomized, placebo-controlled, multicentre trial involving 51 relapsing-remitting multiple sclerosis patients to determine the clinical efficacy of mitoxantrone treatment over 2 years. Patients were allocated either to the mitoxantrone group (27 patients receiving IV infusion of mitoxantrone every month for 1 year at the dosage of 8 mg/m²) or to the placebo group (24 patients, receiving IV infusion of saline every month for 1 year) using a centralized randomization system. Disability at entry and at 12–24 months was evaluated by four blinded neurologists trained in the application of the Kurtzke Expanded Disability Scale (EDSS). In addition, the number and clinical characteristics of the exacerbations over the 24 months were recorded by the local investigators. MRI, at 0,12 and 24 months, was performed with a 0.2 T permanent unit. MRI data were analysed by two blinded neuroradiologists. All patients underwent a clinical evaluation. A statistically significant difference in the mean number of exacerbations was observed between the mitoxantrone group and placebo group both during the 1st and the 2nd year. Although there was no statistically significant benefit in terms of mean EDSS progression over 2 years, the proportion of patients with confirmed progression of the disease, as measured by a one point increase on the EDSS scale, was significantly reduced at the 2nd year evaluation in the mitoxantrone group. Forty-two (23 mitoxantrone, 19 placebo) patients underwent all MRI examinations during the 24-month period. We observed a trend towards a reduction in the number of new lesions on T2-weighted images in the mitoxantrone group. Our study suggests that mitoxantrone might be effective in reducing disease activity, both by decreasing the mean number of exacerbations and by slowing the clinical progression sustained by most patients after 1 year from the end of treatment. Received: 22 February 1996 Received in revised form: 20 August 1996 Accepted: 20 September 1996     

Prevalence and Potentially Reversible Factors Associated With Anorexia Among Older Nursing Home Residents: Results from the ULISSE Project

ObjectiveThe principal aims of the present study were to explore the prevalence of anorexia and the factors correlated to anorexia in a large population of older people living in nursing home. Secondary, we evaluated the impact of anorexia on 1-year survival.MethodsData are from baseline evaluation of 1904 participants enrolled in the Un Link Informatico sui Servizi Sanitari Esistenti per l’Anziano study, a project evaluating the quality of care for older persons living in an Italian nursing home. All participants underwent a standardized comprehensive evaluation using the Italian version of the inter Resident Assessment Instrument Minimum Data Set (version 2.0) for Nursing Home. We defined anorexia as the presence of lower food intake. The relationship between covariates and anorexia was estimated by deriving ORs and relative 95% CIs from multiple logistic regression models including anorexia as the dependent variable of interest. Hazard ratios and 95% CIs for mortality by anorexia were calculated.ResultsMore than 12% (240 participants) of the study sample suffered from anorexia, as defined by the presence of decreased food intake or the presence of poor appetite. Participants with functional impairment, dementia, behavior problems, chewing problems, renal failure, constipation, and depression, those treated with proton pump inhibitors and opioids had a nearly 2-fold increased risk of anorexia compared with participants not affected by these syndromes. Furthermore, participants with anorexia had a higher risk of death for all causes compared with nonanorexic participants (hazard ratio 2.26, 95% CI: 2.14–2.38).ConclusionsThe major finding is that potentially reversible causes, such as depression, pharmacologic therapies, and chewing problems, were strongly and independently associated with anorexia among frail older people living in nursing home. Furthermore, anorexia was associated with higher rate of mortality, independently of age and other clinical and functional variables.     

Underrecognition and undertreatment of dementia in italian nursing homes

ObjectiveTo determine the prevalence of dementia diagnoses and the use of antidementia drugs in a cohort of Italian older nursing home (NH) residents.DesignCross-sectional study.SettingThe NH residents participating in 2 studies: the U.L.I.S.S.E. study and the Umbria Region survey.ParticipantsA total of 2215 nursing home residents.MeasurementEach resident underwent a comprehensive geriatric assessment at baseline by means of the RAI MDS 2.0. Dementia diagnosis was based on ICD-9 codes.ResultsThe prevalence of dementia diagnosis according to ICD-9 codes was 50.7% (n = 1123), whereas 312 subjects had cognitive impairment with a cognitive performance scale score ≥3 without a diagnosis of dementia. Only 56 NH residents were treated (5% of the sample) and the main drugs used were cholinesterase inhibitor, whereas only 1 subject was treated with memantine. Limiting our analysis to patients with mild to moderate Alzheimer's disease, who are those reimbursed by the public health care system for receiving antidementia drugs, the percentage rose to 11.3%.ConclusionThese findings demonstrate a high rate of underdiagnosis and undertreatment of dementia in Italian NH residents. Potential explanations include the lack of systematic assessment of cognitive functions, the limitations to antidementia drug reimbursement, the complexity of the reimbursement procedure itself, and the high prevalence of patients with severe dementia. Older NH residents still lack proper access to state-of-the-art diagnosis and treatment for a devastating condition such as dementia.