Lung ultrasound evaluation in people with cystic fibrosis: A new approach in the pulmonology outpatient clinic

Background: Cystic fibrosis (CF) is a genetic disease that causes progressive lung disease with major impact on the quality of life. Lung ultrasound (LUS) allows to assess the lung involvement through the artefacts analysis and is increasingly used in children but is not yet used to monitor people with CF(pwCF). The main aim of this study was to describe the LUS pattern of pwCF during their routinary check-up visit. The secondary objective was to correlate the LUS findings with pulmonary function indices. Methods: We performed a cross-sectional observational study, enrolling adolescents and young adults with CF. Each patient underwent clinical assessment, measurement of SpO2, assessment of lung function by spirometry and LUS. Results: Twenty-nine subjects with CF were included. The most frequent alterations were consolidations (72.4%) located in the left apical anterior and right apical posterior regions followed by interstitial syndrome (65.5%). The 41.4% of cases presented the lingula involvement, characterized by a consolidation with static air bronchogram, and 55.2% showed pleural irregularity mainly in the posterior apical regions. A significant correlation was found between the LUS total score and spirometric indices: FEV1 (p = .003), FVC (p = .002), Tiffenau Index <80% (p = .014), and FEF 25-75 (p = .004). Conclusions: Our study describes LUS findings in pwCF. It also showed a correlation between LUS score and the patients' lung function measured by spirometric indices. We conclude that LUS may be useful in routine monitoring of pwCF in combination with clinical and spirometric assessment

02/28/1984 - Cager Could Come Up With Upset

We propose the realization of a compact fully-passive biotelemetry tag composed of a high-electron mobility transistor (HEMT) connected to a wireless link. The Gallium Arsenide based gateless HEMT serves both as the environmental sensing element and as the amplitude modulator of the carrier signal received by the antenna. A prototype demonstrator operating in the MHz range has been developed: it consists of an array of transistors with different gate geometries and two spiral loop resonators implementing the wireless link. More specifically, one resonator (Tag-resonator) is connected to the array of transistors, while the other one (Reader-resonator) is connected to a power generator/reader device; the wireless link uses the magnetic coupling between the two resonators. Experimental results demonstrate that the reader-resonator exhibits an intensity modulation of the resonance dip depending on the voltage applied to the HEMT gate. These results will be used as a guideline for the realization of biocompatible sub-millimeter tags operating in the Gigahertz frequency range

Transcatheter embolization with Squid, combined with other embolic agents or alone, in different abdominal diseases: a single-center experience in 30 patients

BACKGROUND: Squid, as Onyx, is an ethylene-vinyl alcohol copolymer (EVOH)-based liquid embolic agent developed for neuroradiologic interventions with poor application in abdominal district. Our aim was to evaluate safety, complications, and efficacy of transcatheter embolization using the two available formulations Squid-18 and 12, in 30 patients affected by different abdominal diseases.RESULTS: Transcatheter embolization with Squid, combined with other embolic agents, as poly vinyl alcohol (PVA) particles, coils and amplatzer plugs, or alone (type 2 endoleak), was performed in 30 patients, as follows: 10 portal vein embolizations (PVEs), 6 arteriovenous malformations (AVMs), 5 visceral artery aneurysms (VAAs), 4 type 2 endoleaks, 3 preoperative embolizations, 1 acute arterial bleeding, 1 female varicocele. Squid was always administered using dimethyl sulfoxide (DMSO) compatible microcatheters. Technical success, 30-day clinical success and complications were assessed. Technical success was 90%. 3 patients (2 AVMs, 1 VAA) required re-intervention successfully performed in all cases. Major complications, cases of microcatheter entrapment and DMSO-related poor pain control were not recorded. 30-day clinical success was 93.3%: in 2 patients submitted to PVE a sufficient future liver remnant (FLR) hypertrophy was not achieved.CONCLUSION: Squid was successfully used with low complication rate in many abdominal diseases showing a valid embolic action either combined with other embolic agents or alone in type 2 endoleak. The availability of different formulations (Squid-18 and Squid-12) variable for viscosity makes Squid preferable to Onyx as EVOH-based liquid embolic agent, even though comparable studies in different abdominal districts with a larger cohort of patients will be necessary

Cardio-pulmonary function among children with mild or asymptomatic COVID-19 infection needing certification for return-to-play

Aim To explore the cardio-pulmonary function of children returning to play sports after mild or asymptomatic SARS-CoV-2 infection. Methods This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return-to-play competitive sports were recruited, according to the Italian Sports Medical Federation recommendations. Echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. Results One hundred and thirty-two patients (aged 8-17 years old, mean age 12.8 +/- 2.5) were recruited. Among these, 127 children were considered for the final analysis (49.6% females). Out of 127, 84 (66.1%) had a mild symptomatic form of SARS-CoV-2 infection, while 43 (33.9%) were asymptomatic. The main referred symptoms were fever (n = 37, 44%), asthenia (n = 14, 16.7%), rhinitis (n = 16, 19%), ageusia (n = 19, 22.6%), anosmia (n = 24, 28.6%), sore throat (n = 3, 3.6%), cough (n = 9, 10.7%), arthralgia-myalgia (n = 11, 13.1%), headache (n = 23, 27.4%) and gastrointestinal symptoms (n = 7, 8.3%). No child presented evidence of cardio-pulmonary function impairment after an average time of 77.3 days (SD 35) from SARS-CoV-2 swab positivity and a median of 68 days (IQ1 52, IQ3 92.5). Conclusion This preliminary study suggests that, in the absence of specific symptoms, the diagnostic yield of cardio-pulmonary tests before returning to play sports may be very low

Uso sinergico della reologia e della risonanza magnetica nucleare a basso campo per caratterizzare l’espettorato di pazienti con fibrosi cistica

Hyper-concentrated and more viscous mucus presents in the lungs of patients suffering from cystic fibrosis (CF) provoke mucus stasis providing an optimal environment for bacterial growth. The sputum of CF patients has been subjected to rheological and low-field NMR investigation, providing information on i) the state of viscoelasticity (G0, h 0 ) and mucus hydration (T2avg), ii) possible correlations also with parameter of patients clinical status given by spirometry(FEV1) iii) the structure of the polymeric network in mucus. The absence of correlation among magnetic and mechanical-rheological relaxation notes that these phenomena are linked to different aspects of sputum. However, correlations exist among FEV1, T2av and rheological properties G0, h 0. Moreover, T2avg correlates with the mucociliary clearability index (MCI) and cough clearability index (CCI), two indices derived from the rheological characterization. The clinical condition of the patient can, therefore, be summarized by T2avg alone. Finally, information from the two characterizations make it possible to estimate the mesh size distribution of the polymeric network pervading sputum. This knowledge is very useful to better understand drugs penetration in mucus

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

Background: Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because of the extensive phenotypic heterogeneity and the high number of CFTR variants, including their combinations as complex alleles. Results: We report a family with a complicated syndromic phenotype, which led to the suspicion not only of CF, but of a dominantly inherited skeletal dysplasia (SD). Whereas the molecular basis of the SD was not clarified, segregation analysis was central to make a correct molecular diagnosis of CF, as it allowed to identify three CFTR variants encompassing two known maternal mutations and a novel paternal microdeletion. Conclusion: This case well illustrates possible pitfalls in the clinical and molecular diagnosis of CF; presence of complex phenotypes deflecting clinicians from appropriate CF recognition, and/or identification of two mutations assumed to be in trans but with an unconfirmed status, which underline the importance of an in-depth molecular CFTR analysis

Funzione cardiopolmonare in bambini con pregressa infezione da Covid-19 lieve o asintomatica e ritorno all'attività sportiva

Aim - To evaluate the cardiopulmonary function in children returning to play sports after mild or asymptomatic SARS-CoV-2 infection. - Methods - This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return to play competitive sports were recruited. According to the Italian Sports Medical Federation recommendations, echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. - Results - 240 patients (aged 8-17 years old) were recruited. Among these, 233 children were considered for the final analysis. Out of 233, 147 (63.1%) had a mild symptomatic form of SARS-CoV-2 infection, while 86 (36.9%) were asymptomatic. The main referred symptoms were fever (n = 68, 46.3%), headache (n = 42, 28.6%), anosmia (n = 40, 27.2%), rhinitis (n = 34, 23.1%), ageusia (n = 32, 21.8%), cough (n = 22, 15%), asthenia (n = 21, 14.3%), arthralgia-myalgia (n = 20, 13.6%), sore throat (n = 14, 9.5%) and gastrointestinal symptoms (n = 9, 6.1%). No child presented evidence of cardiopulmonary function impairment after an average time of 76.1 days (SD 39.2) from SARS-CoV-2 swab positivity and a median of 68 days (IQ1 49, IQ3 98). - Conclusion - This study suggests that the diagnostic yield of cardiopulmonary tests before returning to play sports may be very low in the absence of specific symptoms

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Peer reviewe