Clinical features and outcomes of elderly hospitalised patients with chronic obstructive pulmonary disease, heart failure or both

Background and objective: Chronic obstructive pulmonary disease (COPD) and heart failure (HF) mutually increase the risk of being present in the same patient, especially if older. Whether or not this coexistence may be associated with a worse prognosis is debated. Therefore, employing data derived from the REPOSI register, we evaluated the clinical features and outcomes in a population of elderly patients admitted to internal medicine wards and having COPD, HF or COPD + HF. Methods: We measured socio-demographic and anthropometric characteristics, severity and prevalence of comorbidities, clinical and laboratory features during hospitalization, mood disorders, functional independence, drug prescriptions and discharge destination. The primary study outcome was the risk of death. Results: We considered 2,343 elderly hospitalized patients (median age 81 years), of whom 1,154 (49%) had COPD, 813 (35%) HF, and 376 (16%) COPD + HF. Patients with COPD + HF had different characteristics than those with COPD or HF, such as a higher prevalence of previous hospitalizations, comorbidities (especially chronic kidney disease), higher respiratory rate at admission and number of prescribed drugs. Patients with COPD + HF (hazard ratio HR 1.74, 95% confidence intervals CI 1.16-2.61) and patients with dementia (HR 1.75, 95% CI 1.06-2.90) had a higher risk of death at one year. The Kaplan-Meier curves showed a higher mortality risk in the group of patients with COPD + HF for all causes (p = 0.010), respiratory causes (p = 0.006), cardiovascular causes (p = 0.046) and respiratory plus cardiovascular causes (p = 0.009). Conclusion: In this real-life cohort of hospitalized elderly patients, the coexistence of COPD and HF significantly worsened prognosis at one year. This finding may help to better define the care needs of this population

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins

Correlation between colonic manometry and colonic transit studies in children with chronic constipation

Background & aim: Functional constipation (FC) is a common condition encountered in paediatric population that severely impacts patients’ quality of life. Patients refractory to medical treatments are eligible for further investigations, including colonic manometry (CM) and transit studies (CTS). Colonic transit assessment can be performed with either colonic scintigraphy (CS) or with radiopaque marker (ROM) test and based on their results, constipation can be classified into slow transit constipation (STC) and obstructed defecation. Scientific literature about the concordance between manometric features and colonic transit is currently sparse and a recent study reports good correlation between CS and CM in constipated children. The aim of this study was to evaluate the agreement between CM and CTSs and the presence of specific manometric patterns suggestive of STC or outlet obstruction, respectively. Methods: Consecutive FC patients that had been referred at our centre from 2012 to 2017 were retrospectively evaluated. All patients underwent CM and at least one of the CTSs (either CS or ROM test) as part of their diagnostic work-up. CM was performed as per standardised protocol including at least 1 hour of basal recording, standardised test-meal and administration of two different dose of bisacodyl (0.2 and 0.4 mg/kg). ROM test was performed by administering three different sets of markers in three subsequent days, followed by abdominal radiograph on day 4. CS protocol consisted in administering 111I radiolabelled water along with standard meal. Images were taken at 24 and 48 hours and geometric centres were calculated. All patients underwent bowel clear-out prior to the studies. Based on previously published papers, results from CM were categorised into normal, abnormal distal motor activity and colonic inertia; whereas results of CTSs were classified into normal transit, recto-sigmoid hold-up and slow transit. Cohen keppa, Fisher`s exact and Anova test were used for the statistical analysis. Results: Twenty-nine children (11 males and 18 females, mean age 10.1 years, SD 3.16) were included. As part of their workup, 24.1% (n=7) of the patients had only CS, 62.1 % (n=18) had only ROM test and 13.8% had both tests (n=4). CTSs showed normal values in 3.4% (n=1), outlet obstruction in 24.1% (n=7) and a slow transit in 72.4% (n=21) of patients, respectively. Conversely, CM showed a normal pattern in 65.5% (n=19) of the patients, abnormal distal contraction in 27.6% (n=8) and colonic inertia in 6.9% (n=2). The concordance between the two colonic transit tests was high 100% (Cohen K = 1); whereas, CTSs and CM showed no agreement (Cohen K = 0.079). When comparing different CM patterns in STC and outlet obstruction patients, the presence of partially propagating high-amplitude propagating contractions (HAPCs) was significantly associated with outlet obstruction (p=0.020). Conversely, changes in the motility index from baseline, HAPCs waveform, presence of common cavity features or retro-propagating contractions and colorectal reflex were not predictive of the prevalent colonic transit pattern. Also, the number of HAPCs and low-amplitude propagating contractions (LAPCs) was not significantly associated with CTSs results (p=0.057 and 0.873 in STC and outlet obstruction, respectively). Conclusions: Constipated patients may require CM or CTSs as part of their diagnostic workup. CS and ROM test have a high agreement in classifying the type of constipation. In contrast, we found no agreement between CM and CTSs results. The presence of partially propagating contractions into the distal colon appears to be significantly correlated with outlet obstruction as assessed with CTS, whereas, none of the other colonic manometric patterns was significantly associated with outlet obstruction or STC. All these functional tests have a clinical utility in assessing the pathophysiological mechanisms underlying constipation and may guide clinicians’ therapeutic choices. Given the high agreement between CS and ROM studies, both these radiological techniques can be used to assess the type of constipation, based on centre expertise. On the contrary, CM may be useful in assessing the contractile response following different provocative tests and demonstrating the integrity of colonic neuro-muscular function. Although further larger studies are needed to replicate our data, our results show that manometry and transit studies, by exploring different pathophysiology aspects underlying chronic constipation, have both clinical utility in the diagnostic workup of FC patients

Spontaneous Extrahepatic Portosystemic Shunt in Congenital Hepatic Fibrosis

A case of spontaneous extrahepatic portal shunt in a patient with congenital hepatic fibrosis is describe

Valutazione dell’efficacia del PICADAR nello screening della discinesia ciliare primaria

La Discinesia Ciliare Primaria (DCP) è una malattia congenita, clinicamente e geneticamente eterogenea, caratterizzata da un deficit del trasporto muco-ciliare legato a una disfunzione delle ciglia respiratorie (associata o meno ad un difetto della loro ultrastruttura), con conseguenti infezioni ricorrenti/recidivanti a carico delle vie aeree e del parenchima polmonare e progressivo decadimento della funzione respiratoria. Si tratta di una patologia rara, con una prevalenza stimata di circa 1:16.000, anche se si ritiene sia ancora ampiamente sotto-diagnosticata. La sua diagnosi è, infatti, di solito posta tardivamente a causa della scarsa conoscenza della malattia da parte degli operatori sanitari e di un iter diagnostico che si avvale di esami complessi e disponibili solo in pochi Centri. Inoltre, le manifestazioni cliniche non sono specifiche e variano con l’età dei pazienti. Pertanto, allo scopo di migliorare l’identificazione dei soggetti da avviare alle indagini diagnostiche, è stato recentemente proposto e va-lidato un questionario denominato PICADAR (PrImary CiliAry DyskinesiA Rule), che si può utilizzare fin dalle prime epoche della vita nei soggetti con tosse catarrale quotidiana insorta precocemente, condizione indispensabile per il sospetto diagnostico di DCP. Lo scopo del nostro studio è stato valutare l’efficacia di questo strumento nello screening della malattia attraverso un’analisi retrospettiva della storia clinica dei soggetti sottoposti agli accertamenti diagnostici per DCP presso il nostro Centro negli ultimi 10 anni

Nutritional Aspects of Pediatric Gastrointestinal Diseases.

In the last decade, the role of nutritional management in pediatric gastrointestinal diseases has gained increasing popularity. Disease-specific diets have been introduced as conventional treatments by international guidelines. Patients tend to more willingly accept food-based therapies than drugs because of their relatively "harmless" nature. Apart from a diet's therapeutic role, nutritional support is crucial in maintaining growth and improving clinical outcomes in pediatric patients. Despite the absence of classical "side effects", however, it should be emphasized that any dietary modification might have negative consequences on children's growth and development. Hence, expert supervision is always advised, in order to support adequate nutritional requirements. Unfortunately, the media provide an inaccurate perception of the role of diet for gastrointestinal diseases, leading to misconceptions by patients or their caregivers that tends to overestimate the beneficial role of diets and underestimate the potential adverse effects. Moreover, not only patients, but also healthcare professionals, have a number of misconceptions about the nutritional benefits of diet modification on gastrointestinal diseases. The aim of this review is to highlight the role of diet in pediatric gastrointestinal diseases, to detect misconceptions and to give a practical guide for physicians on the basis of current scientific evidence