Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder

Objective: Bipolar Disorder (BD) is an heritable chronic mental disorder causing psychosocial impairment, affecting patients with depressive/manic episodes. The familial transmission of BD does not follow any of the simple Mendelian patterns of inheritance. The aim of this study is to describe a new large family with twelve affected BD members: WES was performed in eight of them, three of which were diagnosed for BD, and one was reported as a "borderline" individual. Material and methods: WES data allowed us to select variants in common between the affected subjects, once including and once excluding a "borderline" subject with moderate anxiety and traits of obsessive-compulsive disorder. Results: Results were in favor of new predisposing BD genes, electing a heterozygous missense variant in CLN6 resulting in a "borderline" phenotype that if combined with a heterozygous missense variant in ZNF92 is responsible for the more severe BD phenotype. Both rare missense changes are predicted to disrupt the protein function. Conclusions: Loss of both alleles in CLN6 causes Neuronal Ceroid Lipofuscinosis, a severe progressive neurological disorder of childhood. Our results indicate that heterozygous CLN6 carriers, previously reported as healthy, may be susceptible to bipolar disorder late in life if associated with additional variants in ZNF92

Beta-Blocker Use in Older Hospitalized Patients Affected by Heart Failure and Chronic Obstructive Pulmonary Disease: An Italian Survey From the REPOSI Register

Beta (β)-blockers (BB) are useful in reducing morbidity and mortality in patients with heart failure (HF) and concomitant chronic obstructive pulmonary disease (COPD). Nevertheless, the use of BBs could induce bronchoconstriction due to β2-blockade. For this reason, both the ESC and GOLD guidelines strongly suggest the use of selective β1-BB in patients with HF and COPD. However, low adherence to guidelines was observed in multiple clinical settings. The aim of the study was to investigate the BBs use in older patients affected by HF and COPD, recorded in the REPOSI register. Of 942 patients affected by HF, 47.1% were treated with BBs. The use of BBs was significantly lower in patients with HF and COPD than in patients affected by HF alone, both at admission and at discharge (admission, 36.9% vs. 51.3%; discharge, 38.0% vs. 51.7%). In addition, no further BB users were found at discharge. The probability to being treated with a BB was significantly lower in patients with HF also affected by COPD (adj. OR, 95% CI: 0.50, 0.37-0.67), while the diagnosis of COPD was not associated with the choice of selective β1-BB (adj. OR, 95% CI: 1.33, 0.76-2.34). Despite clear recommendations by clinical guidelines, a significant underuse of BBs was also observed after hospital discharge. In COPD affected patients, physicians unreasonably reject BBs use, rather than choosing a β1-BB. The expected improvement of the BB prescriptions after hospitalization was not observed. A multidisciplinary approach among hospital physicians, general practitioners, and pharmacologists should be carried out for better drug management and adherence to guideline recommendations

Paracetamol-codeine compared to ketorolac for pain control in the Emergency Department

Paracetamol /codeine has shown a strong analgesic activity in several studies conducted among different kind of subjects, including those with trauma. Nevertheless, its efficacy in patients accessing the Emergency Department (ED) for different kind of pain has never been tested

Paracetamol-codeine compared to ketorolac for pain control in the Emergency Department

Paracetamol /codeine has shown a strong analgesic activity in several studies conducted among different kind of subjects, including those with trauma. Nevertheless, its efficacy in patients accessing the Emergency Department (ED) for different kind of pain has never been tested

What changed in the Italian internal medicine and geriatric wards during the lockdown

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Italian guidelines for the management of adult individuals with primary hypothyroidism outside pregnancy

Aim: The present guideline (GL) is aimed to improve and standardize the treatment of primary hypothyroidism in non-pregnant adults and to offer all the patients the best possible care across the Italian country. Target population: Non-pregnant adults with hypothyroidism. Excluded population: This GL does not cover the treatment of hypothyroidism in children and adolescents under 18 years of age, in women who are pregnant or breastfeeding, nor in subjects with central hypothyroidism. Also patients who require suppressive therapy with levothyroxine after thyroidectomy for thyroid cancer and those with transient iatrogenic hypothyroidism were not considered in this GL. Methods: The direct costs and the utilization of resources over time were evaluated for the implementation of the appropriate management within the National Health Service. Recommendations were based on the analysis, according to the GRADE methodology, of the evidence from literature. Patients preferences were collected and verified by means of specific bibliographic research and the active participation of two patients’ representatives in the GL development group. Results: The present GL provides 4 formal graded recommendations and 16 ungraded indications for good clinical practice. An elevated agreement was consistently obtained among the panel members. Conclusions: The present GL provides operative recommendations—based on the best available evidence and cost-effectiveness analysis—for the treatment of adult patients with primary hypothyroidism. The expected benefits from the dissemination, application and implementation of this GL are the improvement of the quality of care, its homogenization across the national territory and the rationalization of health expenditure in the respect of patient preferences

Underdiagnosis and undertreatment of osteoporotic patients admitted in internal medicine wards in Italy between 2010 and 2016 (the REPOSI Register)

To evaluate clinical features, treatments, and outcomes of osteoporotic patients admitted to internal medicine and geriatric wards compared with non-osteoporotic patients (REPOSI registry)

The multifaceted spectrum of liver cirrhosis in older hospitalised patients: analysis of the REPOSI registry

Abstract Background Knowledge on the main clinical and prognostic characteristics of older multimorbid subjects with liver cirrhosis (LC) admitted to acute medical wards is scarce. Objectives To estimate the prevalence of LC among older patients admitted to acute medical wards and to assess the main clinical characteristics of LC along with its association with major clinical outcomes and to explore the possibility that well-distinguished phenotypic profiles of LC have classificatory and prognostic properties. Methods A cohort of 6,193 older subjects hospitalised between 2010 and 2018 and included in the REPOSI registry was analysed. Results LC was diagnosed in 315 patients (5%). LC was associated with rehospitalisation (age–sex adjusted hazard ratio, [aHR] 1.44; 95% CI, 1.10–1.88) and with mortality after discharge, independently of all confounders (multiple aHR, 2.1; 95% CI, 1.37–3.22), but not with in-hospital mortality and incident disability. Three main clinical phenotypes of LC patients were recognised: relatively fit subjects (FIT, N = 150), subjects characterised by poor social support (PSS, N = 89) and, finally, subjects with disability and multimorbidity (D&amp;M, N = 76). PSS subjects had an increased incident disability (35% vs 13%, P &amp;lt; 0.05) compared to FIT. D&amp;M patients had a higher mortality (in-hospital: 12% vs 3%/1%, P &amp;lt; 0.01; post-discharge: 41% vs 12%/15%, P &amp;lt; 0.01) and less rehospitalisation (10% vs 32%/34%, P &amp;lt; 0.01) compared to PSS and FIT. Conclusions LC has a relatively low prevalence in older hospitalised subjects but, when present, accounts for worse post-discharge outcomes. Phenotypic analysis unravelled the heterogeneity of LC older population and the association of selected phenotypes with different clinical and prognostic features. </jats:sec

Pain and Frailty in Hospitalized Older Adults

Pain and frailty are prevalent conditions in the older population. Many chronic diseases are likely involved in their origin, and both have a negative impact on quality of life. However, few studies have analysed their association

The multifaceted spectrum of liver cirrhosis in older hospitalised patients: analysis of the REPOSI registry

Knowledge on the main clinical and prognostic characteristics of older multimorbid subjects with liver cirrhosis (LC) admitted to acute medical wards is scarce