64 research outputs found

    Non-Alcoholic Fatty Liver Disease Is not Related to the Prevalence of Diabetic Polyneuropathy in Diabetes

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    Aim: Nonalcoholic fatty liver disease (NAFLD) has been suggested as independent predictor for kidney disease and proliferative retinopathy in patients with type 2 diabetes (T2D), while the association with diabetic polyneuropathy (DPN) is debated. The aim of this study is to evaluate the association between DPN and predictive tools and ultrasonography diagnosis of NAFLD. Methods: Forty-two diabetic patients (mean age 57.83 ± 11.47 years, duration 9.44 ± 8.92 years, HbA1c 59.19 ± 13.85 mmol/mol, 27 males, 93% T2DM), underwent clinical evaluation of DPN by Michigan Neuropathy Screening Instrument (MNSI), Michigan Diabetic Neuropathy Score (MDNS) and Diabetic Neuropathy Index (DNI). NAFLD was evaluated by predictive tools Fatty Liver Index (FLI) and Hepatic Steatosis Index (HIS), and confirmed by liver ultrasonography. Results: DPN was present in 22 (52.4%) participants. DPN patients were older (p=0.04) and characterized by higher prevalence of impaired urinary albumin excretion (p=0.035), hypertension (p=0.011) and dyslipidemia (p=0.041). High risk FLI and HIS scores were detected in 81% and 64.3% of subjects, while ultrasonography NAFLD was present in 31 out of 36 (85.7%%) patients (20 with mild and 11 with moderate-severe grade), resulting more frequent in females than males (93.3% versus 63.0%, p=0.032). 87 No significant difference was found in DPN prevalence in patients with NAFLD than those without (54.8 versus 45.2 %, p=0.338), also considering only high grade steatosis. No association was identified between DPN and non-invasive predictive tools of NAFLD. Conclusion: Although in a small sample of diabetic subjects, liver steatosis is not independently associated with clinical diagnosis of DPN

    Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.

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    Abstract We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype. PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was derived from a healthy non-mutation carrier, heterozygous for the minor variant rs16847548 on the NOS1AP gene, associated with QT prolongation in the general population, and with a greater risk for cardiac arrest in the affected members of the SA founder population. The hiPSCs, generated using the Yamanaka's retroviruses, display pluripotent stem cell features and trilineage differentiation potential

    Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1

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    Abstract We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51 years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC, are pluripotent and can differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs)

    Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1

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    We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 years old female patient homozygous for the mutation c.535 G > A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and differentiate into cell lineages of all three germ layers: endoderm, mesoderm and ectoderm. Keywords: Endoderm, Mesoderm, Ectoder

    Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene

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    We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs)

    Prevalence of Different Subtypes of Serrated Polyps and Risk of Synchronous Advanced Colorectal Neoplasia in Average-Risk Population Undergoing First-Time Colonoscopy

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    OBJECTIVES: A growing body of evidence indicates that patients with sessile serrated adenoma/polyp (SSA/P) and traditional serrated adenoma (TSA) are at risk for subsequent malignancy. Despite increasing knowledge on histological categorization of serrated polyps (SPs) data are lacking on the actual prevalence and the association of each SP subtype with advanced colorectal neoplasia. METHODS: We prospectively determined the prevalence of different SP subtypes and evaluate the association with synchronous advanced neoplasia in asymptomatic average-risk subjects undergoing first-time colonoscopy. All retrieved polyps were examined by two independent pathologists. Serrated lesions were classified into hyperplastic polyps (HP), SSA/P (without and with cytological dysplasia, SSA/P/DIS), and TSA, and were screened for BRAF and K-ras mutations. RESULTS: Among 258 polyps detected in 985 subjects, the proportion of SSA/P and TSA was 8.9% and 1.9% with an overall prevalence of 2.3% and 0.6%, respectively. SSA/Ps were small without significant difference in their location between proximal and distal colon; TSA were predominantly left-sided. BRAF mutation was common in SSA/Ps and K-ras mutation was present in all TSA. Independent predictors of advanced neoplasia were male sex (odds ratio (OR)=2.0, 95% confidence interval (CI) 1.0-4.0), increasing age (OR=4.5, 95% CI 1.5-13.4 for 50-69 years and OR=9.9, 95% CI 3.1-31.5 for >70 years), current smoking (OR=2.0, 95% CI 1.3-6.8), >3 tubular adenoma (OR=3.6, 95% CI 1.9-6.4), and SSA/P (OR=6.0, 95% CI 1.9-19.5). CONCLUSIONS: The substantial prevalence of BRAF-mutated SSA/P and the independent association with synchronous advanced colorectal neoplasia in asymptomatic average-risk subjects support the overall impact of the serrated pathway on colorectal cancer (CRC) risk in general population. The endoscopic characteristics of SSA/P emphasize the need of high-quality colonoscopy as a key factor for an effective CRC screening progra

    Towards a cloud-based university accelerated by the pandemic

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    Proceeding of: the 2021 IEEE Global Engineering Education Conference (EDUCON), 21-23 April 2021, Vienna, Austria. P.: 642-1649.The coronavirus pandemic has accelerated the digital transformation of society, and in particular of university teaching. Professors who were reluctant or unwilling to take advantage of what digital technologies offered suddenly were forced to teach with technologies. In this paper, we describe teaching during the two main phases during the pandemic at Universidad Carlos III de Madrid (UC3M): the first phase during the complete lockdown and the second where students were allowed on campus with limitations. We also explain how the investment done during these two phases influences teaching in the future and how digital cloud-based technologies promote active learning at the university.The authors acknowledge the eMadrid Network, which is funded by the Madrid Regional Government (Comunidad de Madrid) with grant No. S2018/TCS-4307. This work also received partial support from FEDER/Ministerio de Ciencia, Innovación y Universidades-Agencia Estatal de Investigación through project Smartlet (TIN2017-85179-C3-1-R). It has also received partial support from the European Commission through Erasmus+ projects LALA (586120-EPP-1-2017-1-ES-EPPKA2-CBHE-JP), InnovaT (598758-EPP-1-2018-1-AT-EPPKA2-CBHE-JP) and PROF-XXI (609767-EPP-1-2019-1-ES-EPPKA2-CBHE-JP).Publicad

    Toxin Levels and Profiles in Microalgae from the North-Western Adriatic Sea—15 Years of Studies on Cultured Species

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    The Northern Adriatic Sea is the area of the Mediterranean Sea where eutrophication and episodes related to harmful algae have occurred most frequently since the 1970s. In this area, which is highly exploited for mollusk farming, the first occurrence of human intoxication due to shellfish consumption occurred in 1989, nearly 10 years later than other countries in Europe and worldwide that had faced similar problems. Until 1997, Adriatic mollusks had been found to be contaminated mostly by diarrhetic shellfish poisoning toxins (i.e., okadaic acid and dinophysistoxins) that, along with paralytic shellfish poisoning toxins (i.e., saxitoxins), constitute the most common marine biotoxins. Only once, in 1994, a toxic outbreak was related to the occurrence of paralytic shellfish poisoning toxins in the Adriatic coastal waters. Moreover, in the past 15 years, the Adriatic Sea has been characterized by the presence of toxic or potentially toxic algae, not highly widespread outside Europe, such as species producing yessotoxins (i.e., Protoceratium reticulatum, Gonyaulax spinifera and Lingulodinium polyedrum), recurrent blooms of the potentially ichthyotoxic species Fibrocapsa japonica and, recently, by blooms of palytoxin-like producing species of the Ostreopsis genus. This review is aimed at integrating monitoring data on toxin spectra and levels in mussels farmed along the coast of the Emilia-Romagna region with laboratory studies performed on the species involved in the production of those toxins; toxicity studies on toxic or potentially toxic species that have recently appeared in this area are also reviewed. Overall, reviewed data are related to: (i) the yessotoxins producing species P. reticulatum, G. spinifera and L. polyedrum, highlighting genetic and toxic characteristics; (ii) Adriatic strains of Alexandrium minutum, Alexandrium ostenfeldii and Prorocentrum lima whose toxic profiles are compared with those of strains of different geographic origins; (iii) F. japonica and Ostreopsis cf. ovata toxicity. Moreover, new data concerning domoic acid production by a Pseudo-nitzschia multistriata strain, toxicity investigations on a Prorocentrum cf. levis, and on presumably ichthyotoxic species, Heterosigma akashiwo and Chattonella cf. subsalsa, are also reported
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