Acoustic radiation force impulse (ARFI) imaging with Virtual Touch Tissue Quantification in liver disease associated with cystic fibrosis in children.

PURPOSE: Cystic-fibrosis-associated liver disease (CFLD) may lead to portal hypertension (PHT) and cirrhosis. Clinical signs and biochemistry of liver involvement are not discriminating. The aim of the study was to evaluate the performance of acoustic radiation force impulse (ARFI) with virtual tissue quantification in comparison with clinical signs, biochemistry and standard hepatic ultrasound (US) patterns. MATERIALS AND METHODS: Virtual Touch Tissue Quantification, an implementation of US ARFI with shear-wave velocity (SWV) measurements was used in 75 children with cystic fibrosis (CF) and suspected CFLD to quantify hepatic stiffness. In each patient, ten measurements of SWV were performed on the right hepatic lobe. Patients were also evaluated by standard diagnostic tools (standard US, liver- and lung function tests, oesophagogastroscopy). RESULTS: Among CF patients, median SWV was significantly higher in patients with clinical, biochemical and US signs of hepatic involvement than in patients without US evidence of liver disease 1.08 m/s [(95% confidence interval (CI), 1.02-1.14]. Median SWV values in patients with portal hypertension, splenomegaly and oesophageal varices were 1.30 (95% CI, 1.17-1.43), 1.54 (95% CI, 1.32-1.75) and 1.63 (95% CI, 1.26-1.99), respectively. Differences were significant (p<0.001). CONCLUSIONS: ARFI is an innovative screening technique able to help identify CFLD in children.

Telemonitoring for Cystic fibrosis patients of Bambino Gesù Children's Hospital during COVID-19.

Background: Cystic fibrosis (CF) is the most common autosomal recessive genetic pathology of the Caucasian race and it affects nearly 100,000 people worldwide (many have not been diagnosed) and, in Italy, there are about 6000 patients. In the last few years, telemedicine has proved to be an effective home care tool for patients suffering from chronic pathologies. The advent of the COVID-19 pandemic has caused an increase of communications through mobile devices. Aim: To evaluate the role of telemonitoring during the pandemic phase of Covid-19. Materials and methods: 34 (M 15, F 19) (M 44%, F 56%) Cystic Fi-brosis patients were evaluated; Median age ± SD 30.97±10.59 Median FEV1 2020 74.76; number of trasmission and hospital admissions. Results: It was evident that the absolute number of telemedicine visits increased from 1456 to 1605 in the pandemic year (10% more). Conclusions: Telemedicine became an important tool for home management of patients, in particular about chronic diseases. Telemonitoring, an integral part of telemedicine, underlined its effectiveness in all health emergency phase.

Clinical and microbiological monitoring of Cystic Fibrosis patients, three years of follow-up via Tele-Medicine: an empirical research.

OBJECTIVES: Evaluation of the effectiveness of home care through a telemonitoring system in reducing the incidence of new colonization by Pseudomonas Aeruginosa in a population of patients with Cystic Fibrosis (CF) followed by the CF clinic of the Bambino Gesù Hospital in Rome over a period of 36 months. MATERIALS AND METHODS: Two groups of patients were recruited, homogeneous for age, sex, BMI, FEV1, prevalence of CF-related Diabetes and CF-related Hepatopathy, access to new therapies with modulators: a) an IN group (N = 44 ) followed through a home telemonitoring system, b) an OUT control group (N = 110) followed according to the standards of care. The following parameters were detected for all patients: pulmonary colonization of the lungs, number and type of hospital admissions, respiratory function, BMI. RESULT: The OUT group had a statistically significant increase in the prevalence of Pseudomonas Aeruginosa infections during the observation period. Furthermore, a significant decrease in lung function assessed through FEV1 was also observed in the OUT group. CONCLUSION: Adolescent and adult patients belonging to the CF center who are not followed through the dedicated home telemonitoring service show, in the three-year period 2017-19, an increase in Pseudomonas Aeruginosa infections and a greater decrease in respiratory function. The use of telemedicine in CF is therefore an effective system not only in monitoring the disease but also as a treatment strategy, in the context of an evolving multidisciplinary model. As advantages, telemedicine can reduce the number of Pseudomonas Aeruginosa lung infections and the greater stability of respiratory function over time.

Diagnosis of atypical CF: a case-report to reflect.

Non-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present a case of two sisters affected by mild pulmonary symptoms started at puberty, carriers of the F508del mutation associated with the T5TG13 combination. We discuss the clinical utility of TG repeat testing in individuals carrying the T5 variant. Furthermore, this case-report leads to reflect on the natural history of CF and the correct management of its atypical forms.

[Testis cancer markers. Clinical use]. / I marcatori sierici delle neoplasie del testicolo. Uso clinico.

Testis tumour is relatively rare and more frequent between 15-35 years of age. The 90% of this tumour derivates from germinal cells, the remaining cases originate from stromal cells or are secondary lesions from other neoplasms. The present clinical use of serum markers, especially alfa-fetoprotein (AFP), human chorionic gonadotrophin protein (HCG) and serum lactate dehydrogenase (LDH) is examined.

[Tumor markers in epithelial ovarian cancer]. / Marcatori tumorali nel carcinoma epiteliale dell'ovaio.

Many circulating markers are already in clinical practice and in experimental use for the diagnosis, therapeutic monitoring, and in the follow-up of ovarian cancer. The cancer antigen-125 (CA-125) has shown to be useful in epithelial ovarian cancer, but its specificity is too low for the test to be used as a primary screening technique in early stage and particularly in premenopausal women. In the last few years, several studies have focused on using the serial measurement of complementary serum markers to improve the positive predictive value and diagnostic accuracy. The main problem is that the different cellular lines express these markers in a very variable way.

Program of home telemonitoring in patients with cystic fibrosis over a period of 2 years: a contribution to the rationalization of care.

OBJECTIVES: In present study we tested the possible presence of a saving for Italian National Health Service (INHS) when using telemonitoring in the follow-up at home of patients with Cystic Fibrosis (CF), in the aim to assess the possible role of Telemedicine in rationalization of hospital admissions. MATERIALS AND METHODS: We performed an economic analysis of the costs incurred by the INHS for patients with CF followed at home by telemonitoring, recalled to hospital under suspicion or diagnosis of acute pulmonary recurrence. RESULTS: We calculated, for 19 patients retrieved in the period of the study, a total saving compared to traditional home care of € 132.144,91 in 24 months, corresponding to € 3.303,62/year/patient. CONCLUSIONS: The presence of an economic advantage for the INHS is confirmed once again, although not significant. The data from this study are encouraging regarding the possible role of telemedicine in the organization of homecare of CF patients.

[Economic evaluation of telehomecare in chronic lung diseases]. / Valutazione economica del telemonitoraggio domiciliare in malattie polmonari croniche.

OBJECTIVES: We attempted to quantify the cost-effectiveness ratio in telemonitoring lung function of patients affected by Cystic Fibrosis (CF). MATERIALS AND METHODS: We examined the costs of Telehomecare (THC) in the follow-up of CF patients. We considered the failed hospitalizations as incomes. A standardized questionnaire was submitted by e-mail to verify the patient satisfaction and expectation levels. We studied 3 groups of patients: a) 17 CF patients in THC; b) 28 CF patients not followed by THC and c) 28 non-CF patients affected by chronic diseases and not followed by THC. Some parameters with no market value were evaluated using "willingness to pay" (WTP). RESULTS: An annual saving of €.5241 was calculated for single FC patient followed by THC. The WTP analysis showed that patients affected by chronic diseases expected very much from new technologies. CONCLUSIONS: The THC use in CF shows several advantages as fewer hospitalization and economical saving in a general trend of limited economical resources. Further studies are needed to confirm our data.

Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene.

Idiopathic achalasia is a rare disorder of the oesophagus of unknown aetio-pathogenesis characterized by a myenteric inflammation, aperistalsis and insufficient lower oesophageal sphincter relaxation. Vasoactive intestinal peptide (VIP), present in the myenteric plexus, is involved in smooth muscle relaxation and acts as an anti-inflammatory cytokine. The human VIP receptor 1 gene (VIPR1) is highly polymorphic and may play a role in idiopathic achalasia. One hundred and four consecutive patients and 300 random controls from the same geographic area were typed for five SNPs mapping in the VIPR1 gene. Patients with idiopathic achalasia show a significant difference in allele, genotype and phenotype distribution of SNP rs437876 mapping in intron 4. This association, however, was almost entirely due to the group of patients with late disease onset (P = 0.0005). These results strongly suggest that idiopathic achalasia is a heterogeneous disease with a different aetiology in cases with early or late disease onset.