Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c.-23 1G A were identifi ed in 10.78% and the 9.8% of patients respectively; c.35delG homozygotes presented more severe hearing impairment (75.59% of profound hearing loss) and a higher mean PTA 0.25 – 4 kHz (96.79 21.11 dB HL) with respect to c.35delG/non-c.35delG and c.35delG/Wt patients (P 0.05). Conclusions: This work underlines the role of c.35delG, c.167delT and c.-23 1G A as the most frequent causes of NSHL in Sicily. The c.35delG frequency found is similar to those reported in other populations of the Mediterranean area. The analysis of genetic and audiologic data confi rmed a variability in the phenotype associated to a single genotype

Frequenza e fenotipo delle mutazioni GJB2 in pazienti con ipoacusia neurosensoriale non-sindromica congenita: analisi di una coorte della Sicilia Occidentale

Circa il 60% delle ipoacusie congenite sono associate a cause genetiche nei paesi sviluppati. La sordit\ue0 genetica \ue8 classificata in sindromica (30%) e non sindromica (70%), quest\u2019ultima riconducibile in pi\uf9 del 50% dei casi a mutazioni del gene GJB2. Tale gene, espresso nella coclea, codifica per la proteina gap junction \u201cConnessina 26\u201d, la cui funzione \ue8 cruciale per la comunicazione intercellulare. L\u2019obiettivo del nostro lavoro \ue8 stato quello di stimare la frequenza delle mutazioni GJB2 e la loro correlazione con il fenotipo audiologico in 102 pazienti siciliani affetti da sordit\ue0 neurosensoriale congenita non sindromica (NSHL) bilaterale e portatori di almeno una mutazione del gene GJB2. Tutti i soggetti sono stati sottoposti a test genetici (per individuare la presenza di mutazioni dei geni GJB2 e GJB6) ed esame audio-impedenzometrico. Nella coorte studiata sono stati identificati 15 mutazioni differenti e 17 genotipi. Nel 64.72% dei pazienti si \ue8 evidenziata una perdita uditiva di grado profondo (media PTA0.25-4kHz= 88.82\ub126.52 dB HL ). L\u201981.37% dei soggetti \ue8 risultato portatore di almeno un allele c.35delG; le mutazioni c.167delT e c.-23+1G>A sono state identificate nel 10.78% e nel 9.8% dei pazienti rispettivamente. Il genotipo omozigote per la mutazione c.35delG \ue8 risultato associato ad una pi\uf9 severa perdita uditiva e a valori medi di PTA0.25-4kHz pi\uf9 elevati (96.79\ub121.11 dB HL) rispetto ai genotipi c.35delG/non-c.35delG e c.35delG/Wt (P<0.05) Il nostro studio evidenzia il ruolo di c.35delG, c.167delT e c.-23+1G>A come cause principali di NSHL in Sicilia. La variabilit\ue0 del profilo audiologico associato ad un determinato genotipo \ue8 riconducibile all\u2019azione di geni e fattori ambientali in parte non ancora individuati

4D Printing of Plasmon-Encoded Tunable Polydimethylsiloxane Lenses for On-Field Microscopy of Microbes

Here the 4D printing of a magnifying polydimethylsiloxane (PDMS) lens encoded with a tunable plasmonic rejection filter is reported. The lens is formed by moldless printing of PDMS pre-polymer on a nanostructured porous silicon (PSi) templating layer. A nanometer-thick plasmonic filter is integrated on the lens surface by in situ synthesis of Ag and Au nanoparticles (NPs) with programmed density. The filter can be designed to reject light at the plasmonic resonance wavelength of the NPs with an optical density tunable from 0 to 3 and retreive light at longer wavelengths with a pass-to-stop band ratio tunable from 0 to 60 dB. Swelling of PDMS in hexane and ether is used to change the NP density on the lens surface and modulate, in turn, the transmittance properties of the NP-decorated lens over 3 orders of magnitude. The plasmon-encoded lens is coupled to a commercial smartphone demonstrating: shaping of the emission spectrum of a white light-emitting diode to tune the color from yellow to purple; real-time bright-field and fluorescence microscopy of living microbes in water, namely, the auto-fluorescent green alga Chlorogonium sp. and the ciliated protozoan Euplotes daidaleos

Characterization of street food consumption in palermo: possible effects on health

<p>Abstract</p> <p>Background</p> <p>Street Food (SF) consists of out-of-home food consumption and has old, historical roots with complex social-economic and cultural implications. Despite the emergence of modern fast food, traditional SF persists worldwide, but the relationship of SF consumption with overall health, well-being, and obesity is unknown.</p> <p>Methods</p> <p>This is an observational, cross-sectional study. The study was performed in Palermo, the largest town of Sicily, Italy. Two groups were identified: consumers of SF (n = 687) and conventional restaurant food (RES) consumers (n = 315). Study subjects answered a questionnaire concerning their health conditions, nutritional preferences, frequency of consumption of SF and a score relative to SF consumption ranging from 0 to 20 was calculated.</p> <p>Results</p> <p>Body mass index (BMI, kg/m²) was significantly and independently correlated with the score of street food consumption (r = 0,103; p < 0.002). The prevalence of different diseases, including hypertension and type 2 diabetes, and the use of medications did not differ between the two groups. Milza (a sandwich stuffed with thin slice of bovine spleen and lung) consumers had a significantly higher prevalence of hypertension (12.2% vs 6.2% in non consumers; p < 0.005) and in this subgroup the use of anti-hypertensive drugs was inversely correlated with the frequency of milza consumption (r = 0.11; P = 0.010).</p> <p>Conclusions</p> <p>This study suggests that SF consumption in Palermo is associated with a higher BMI and higher prevalence of hypertension in milza consumers. Further studies should evaluate whether frequent SF consumers have unfavourable metabolic and cardiovascular profile.</p

Jacobsen syndrome

Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown

Disease-specific and general health-related quality of life in newly diagnosed prostate cancer patients: The Pros-IT CNR study

Background: The National Research Council (CNR) prostate cancer monitoring project in Italy (Pros-IT CNR) is an observational, prospective, ongoing, multicentre study aiming to monitor a sample of Italian males diagnosed as new cases of prostate cancer. The present study aims to present data on the quality of life at time prostate cancer is diagnosed. Methods: One thousand seven hundred five patients were enrolled. Quality of life is evaluated at the time cancer was diagnosed and at subsequent assessments via the Italian version of the University of California Los Angeles-Prostate Cancer Index (UCLA-PCI) and the Short Form Health Survey (SF-12). Results: At diagnosis, lower scores on the physical component of the SF-12 were associated to older ages, obesity and the presence of 3+ moderate/severe comorbidities. Lower scores on the mental component were associated to younger ages, the presence of 3+ moderate/severe comorbidities and a T-score higher than one. Urinary and bowel functions according to UCLA-PCI were generally good. Almost 5% of the sample reported using at least one safety pad daily to control urinary loss; less than 3% reported moderate/severe problems attributable to bowel functions, and sexual function was a moderate/severe problem for 26.7%. Diabetes, 3+ moderate/severe comorbidities, T2 or T3-T4 categories and a Gleason score of eight or more were significantly associated with lower sexual function scores at diagnosis. Conclusions: Data collected by the Pros-IT CNR study have clarified the baseline status of newly diagnosed prostate cancer patients. A comprehensive assessment of quality of life will allow to objectively evaluate outcomes of different profile of care

Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

Background: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage 653 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage 653 CKD in a large cohort of patients affected by T1DM. Methods: A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici Diabetologi, AMD) initiative constitutes the study population. Urinary albumin excretion (ACR) and estimated GFR (eGFR) were retrieved and analyzed. The incidence of stage 653 CKD (eGFR &lt; 60 mL/min/1.73 m2) or eGFR reduction &gt; 30% from baseline was evaluated. Results: The mean estimated GFR was 98 \ub1 17 mL/min/1.73m2 and the proportion of patients with albuminuria was 15.3% (n = 654) at baseline. About 8% (n = 337) of patients developed one of the two renal endpoints during the 4-year follow-up period. Age, albuminuria (micro or macro) and baseline eGFR &lt; 90 ml/min/m2 were independent risk factors for stage 653 CKD and renal function worsening. When compared to patients with eGFR &gt; 90 ml/min/1.73m2 and normoalbuminuria, those with albuminuria at baseline had a 1.69 greater risk of reaching stage 3 CKD, while patients with mild eGFR reduction (i.e. eGFR between 90 and 60 mL/min/1.73 m2) show a 3.81 greater risk that rose to 8.24 for those patients with albuminuria and mild eGFR reduction at baseline. Conclusions: Albuminuria and eGFR reduction represent independent risk factors for incident stage 653 CKD in T1DM patients. The simultaneous occurrence of reduced eGFR and albuminuria have a synergistic effect on renal function worsening

Algebras with involution with linear codimension growth

We study the 17-varieties of associative algebras with involution over a \ufb01eld of characteristic zero which are generated by a \ufb01nite-dimensional algebra. In this setting we give a list of algebras classifying all such 17-varieties whose sequence of 17-codimensions is linearly bounded. Moreover, we exhibit a \ufb01nite list of algebras to be excluded from the 17-varieties with such property. As a consequence, we \ufb01nd all possible linearly bounded 17-codimension sequences

Matrix algebras with degenerate traces and trace identities

In this paper we study matrix algebras with a degenerate trace in the framework of the theory of polynomial identities. The first part is devoted to the study of the algebra Dn of n×n diagonal matrices. We prove that, in case of a degenerate trace, all its trace identities follow by the commutativity law and by pure trace identities. Moreover we relate the trace identities of Dn+1 endowed with a degenerate trace, to those of Dn with the corresponding trace. This allows us to determine the generators of the trace T-ideal of D3. In the second part we study commutative subalgebras of Mk(F), denoted by Ck of the type F+J that can be endowed with the so-called strange traces: tr(a+j)=αa+βj, for any a+j∈Ck, α, β∈F. Here J is the radical of Ck. In case β=0 such a trace is degenerate, and we study the trace identities satisfied by the algebra Ck, for every k≥2. Moreover we prove that these algebras generate the so-called minimal varieties of polynomial growth. In the last part of the paper, devoted to the study of varieties of polynomial growth, we completely classify the subvarieties of the varieties of algebras of almost polynomial growth introduced in ([7])