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Hereditary gastrointestinal polyposis: Diagnosis, genetic test and risk assessment

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Open Journal of Genetics 2013年第2期3卷 50-58页

作者： marina de rosa Francesca Duraturo Raffaella Liccardo Paola Izzo Dipartimento di Medicina Molecolare e Biotecnologie Mediche and CEINGE Biotecnologie Avanzate Università di Napoli Federico II Naples Italy

Colorectal cancer (CRC) is the second cause of cancer deaths, with over 1 million new cases estimated every year. Familial adenomatous polyposis, MUTYH-associated polyposis and hamartomatous polyposis are inherited syndromes that account for 2%-5% of all colon cancer. The mutated genes responsible for the vast majority of these disorders, are now known (MLH1, MSH2, MSH6, PMS2, APC, MYH, LKB1, SMAD4, BMPR1A, and PTEN) and specific mutations have been identified. Molecular caracterization of inherited CRCs allows pre-symptomatic diagnosis identifying at-risk individuals and improving cancer surveillance. Adenomatous polyposis includes familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP). Hamartomatous polyposis comprises Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS) and “PTEN hamartoma tumour syndrome” (PHTS). MAP is an autosomal recessive condition, while all other disorders are inherited in an autosomal dominant manner. Differential dyagnosis could be very difficult between syndromes because of their phenotypic variability. Attenuated FAP, MAP and Lynch syndrome could be all associated with fewer numbers of adenomas (3-10 polyps), nevertheless, each syndrome has distinct cancer risks, characteristic clinical features, and separate genetic etiologies. Thus, differential diagnosis is essential for correct management of the specific disease. In our laboratory we set up a methodology for genetic tests of the colorectal polyposis syndrome. In these reviews we summarize the literature data and our experience about diagnosis, genetic tests and cancer risk assesment associated with colorectal polyposis. According to literature data, in our experience, there is a portion of analyzing patients that remain without identified mutation, after molecular screening of the specific gene involved in the pathogenesis of the disease. Since the sensibility of used techniques, such as DHPLC, MLPA and sequencing, is now very h

关键词： Familial Adenomatous Polyposis (FAP) MUTYH-Associated Polyposis (MAP) Peutz-Jeghers Syndrome (PJS) PTEN Hamartoma Tumour Syndrome (PHTS)

Histological and Morphological Study of the Intestines of Wistar Rat Fetuses in a Modified Gastroschisis Experimental Model

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Surgical Science 2016年第2期7卷 72-81页

作者： André Luis Hecht Sartori marina Ferreira rosa de Vilhena Gabriela Samaha França Willy Marcus França Faculty of Medical Science and Health Catholic University of S&atildeo Paulo (FCMS PUC/SP) S&atildeo Paulo Brazil S&atildeo Paulo City University S&atildeo Paulo Brazil Pediatric Surgeon Laboratory of Surgery Technique and Experimental Surgery FCMS PUC/SP S&atildeo Paulo Brazil

In gastroschisis (G), the lesion degree of exposed intestinal segments is related to the time of its contact with the amniotic fluid (AF) and exposure to meconium which is the cause of intestinal morphological and histological alterations. The outcome of these alterations is intestinal hypoperistalsis and nutrient absorption deficiency, which contribute to increased morbidity and high medical-hospital costs. In this study, morphological and histological intestine alterations were identified at two different contact occasions with AF. Experimental gastroschisis (G) was performed on Wistar rat fetuses at a single gestational age on day 18.5th. The fetuses were removed on the 20.5th (G-1) and 21.5th days (G-2). Fetuses of both groups were divided in 3 sub-groups: control (C), gastroschisis (G) and sham (S). Measurements were taken of the Whole Set including fetus, placenta and membranes with AF (WS), fetus body weight (BW), intestinal weight (IW) and their diameters (DI). The objective of the present study is to test a new gastroschisis experimental model and identify differences in morphological and histological alterations in these two gestational periods that may be directly related to intestinal motility disorders in G. The WS and BW presented no significant statistical difference when compared G1 and G2. The results of the intestine average weight of G2 fetuses were significantly higher when compared to G1 fetuses in all subgroups (C: p = 0.02;G: p = 0.01;S: p = 0.02, Mann Whitney). The results of the intestinal average diameters (D/d) in G1 and G2 presented significant statistical difference only in G subgroup (p Kruskal Wallis). When compared intestinal average diameters, there was significant statistical difference of G fetuses in G1 and G2 (p Mann Whitney). In conclusion, the present experimental G model was adequate to reproduce G in rat fetuses. All G fetuses presented significant statistical difference when compared to other

关键词： Gastroschisis Intestinal Damage Intestinal Motility Early delivery

Cholecystokinin in the Pathogenesis of Bulimia Nervosa

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International Journal of Clinical Medicine 2011年第4期2卷 509-515页

作者： Helena Trebbau López rosa María Molina-Ruiz Laura Reyes Molón marina Díaz-Marsá 不详

Objective: This review aims to describe the role of the hormone cholecystokinin (CCK) in the pathogenesis of bulimia nervosa (BN), the perpetuation of this illness and the possibility of its use as a target for future therapeutic advances. Methods: Search for cholecystokinin AND bulimia nervosa in Pubmed Central, with no limits, identified 38 articles published up to the present date. Results: It is well established that CCK is altered in the pathogenesis of BN, and that its main role is in the perpetuation of the disorder rather than the cause of it. Discussion: Additional studies will be needed to further understand the mechanisms by which CCK regulates orexigenic pathways. If an orally active, longer acting analogue of CCK could be developed, it would be of significant interest as an appetite suppressant and a key adjuvant in the treatment of patients suffering from BN, particularly in refractory cases.

关键词： Satiety Cholecystokinin Bulimia Nervosa

Composition and Molecular Identification of Bacterial Community in Seawater desalination Plants

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Advances in Microbiology 2019年第10期9卷 863-876页

作者： Pilar Garcia-Jimenez marina Carrasco-Acosta Carlos Enrique Payá Irina Alemá n Ló pez Juana rosa Betancort Rodrí guez José Alberto Herrera Meliá n department of Biology Universidad de Las Palmas de Gran Canaria Campus de Tafira Las Palmas Spain department of Water Instituto Tecnológico de Canarias Playa de Pozo Izquierdo Las Palmas Spain department of Chemistry Universidad de Las Palmas de Gran Canaria Campus de Tafira Las Palmas Spain

Biofouling is an important problem for reverse osmosis (RO) membrane manufacturers. Bacteria are mainly involved in generating fouling and obturating RO membranes. Insights into biofilm bacteria composition could help prevent biofouling, reduce the cost of using RO-fouling membranes and guarantee safe water. Culture-dependent and independent techniques were then performed in order to identify bacteria associated with RO membranes. Bacteria cultures described the presence of six pure colonies, four of which were identified through API testing. Based on 16s rRNA gene analysis, a predominant bacterium was identified and annotated as Sphingomonas sp. The 16s rRNA gene clone library, on the other hand, showed that the bacterium, Pseudomonas marincola, accounted for nearly 30% of the clone library, while the rest of bacteria were chimeras (62%) and non-representative species (3%). In conclusion, culture-dependent and independent approaches showed that two dominant bacteria were commonly observed in RO desalination membranes.

关键词： Biofouling Bacteria 16s rRNA Reverse Osmosis Membrane Pseudomonas sp. Sphingomonas sp.

The Impact of the Essential Fatty Acids (EFA) in Human Health

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Open Journal of Endocrine and Metabolic Diseases 2015年第7期5卷 98-104页

作者： Alberto Krayyem Arbex Vagner rosa Bizarro Julio Cesar Salles Santos Lis marina Mesquita Araújo Ana Luísa Conceicao de Jesus Minelli Salles Alves Fernandes Marcela Miranda Salles denise Rosso Tenório Wanderley Rocha Aline Marcadenti Division of Endocrinology Faculdade IPEMED de Ciências Médicas (IPEMED) Rio de Janeiro Brazil Visiting Scientist of the Harvard School of Public Health Harvard University Boston USA Postgraduate Studies Program in Cardiology Instituto de Cardiologia/Fundacao Universitária de Cardiologia do Rio Grande do Sul (IC/FUC) Porto Alegre Brazil department of Nutrition Universidade Federal de Ciências da Saúde de Porto Alegre (UFSCPA) Porto AlegreBrazil

Linoleic (LA) and α-linolenic acids (ALA) are considered essential fatty acids (EFA) because they are not produced by the human body. This way, EFAs sources must come from the diet. The primary dietary source of n-3 fatty acids is ALA, found in seeds and seed oils. Other important sources are fish oils such as tuna, salmon and herring. Currently, numerous studies suggest possible benefits of essential fatty acids in human health, such as in cardiovascular, cognitive and eye health, and also during pregnancy and childhood. This paper also discusses the impact of fatty acids in human metabolism, and the available evidence regarding its risks. It addresses the relevant debate regarding a general ban of trans fatty acids (TFA) from the world food market, because of the cardiovascular risks associated with its consumption.

关键词： Fatty Acids Linoleic Acid Alpha-Linolenic Acid Cardiovascular Health Trans Fatty Acids

The in Vitro Antioxidant Capacities of Hydroalcoholic Extracts from Roots and Leaves of Smallanthus sonchifolius (Yacon) Do Not Correlate with Their in Vivo Antioxidant Action in Diabetic Rats

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Journal of Biosciences and Medicines 2016年第2期4卷 15-27页

作者： Ana Carla Broetto Biazon Mariana Marques Nogueira Wendt Júlia rosa Moreira Cristiane Vizioli Castro Ghizoni Andreia Assunção Soares Sandra da Silva Silveira Anacharis Babeto de Sá-Nakanishi Ciomar Aparecida Bersani Amado rosane marina Peralta Adelar Bracht Jurandir Fernando Comar Pharmacy department Faculdades Integrado Campo Mourao Brazil Biochemistry department University of Maringá Maringá Brazil Pharmacology and Therapeutics department University of Maringá Maringá Brazil

Leaf and root extracts of Smallanthus sonchifolius (yacon), have antihyper-glycemic activity and antioxidant properties. The present study aims to compare the in vivo hepatic antioxidant activity of hydroalcoholic extracts of yacon leaves and roots in rats with streptozotocin-induced diabetes in terms of their in vitro antioxidant capacity. Rats were treated during 14 days with 1060 mg·Kg-1 root extract or 400 mg·Kg-1 leaf extract. The latter was richer in phenolics and possessed a much higher in vitro antioxidant activity. Both extracts prevented hyperglycemia in diabetic rats. The liver of diabetic rats presented increased levels of protein carbonyls and ROS and decreased activities of antioxidant enzymes. Treatment with both root and leaf extracts restored the protein carbonyl levels to normality. The root extract also restored the ROS levels to normality, but the leaf extract was not effective. The root extract was also more effective in restoring the activity of at least two important antioxidant enzymes (glucose 6-phosphate dehydrogenase and glutathione peroxidase). In terms of the antioxidant load (which was 17 times lower in the root extract treatment), the in vivo action of the root extract was more effective than the leaf extract in reducing the hepatic oxidative stress that accompanies diabetes.

关键词： Smallanthus sonchifolius Yacon Streptozotocin-Induced Diabetes Liver Oxidative Status

Diabetes, Obesity and the Nutrition Transition in the Mercosur

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Open Journal of Endocrine and Metabolic Diseases 2016年第1期6卷 28-37页

作者： Tatiane Andreazza Lucchese Amanda Maia Breis Karine Rucker Vagner rosa Bizarro Lis marina Mesquita Araújo Alessandre Gomes Mikele Torino Paletti Ana Luísa Conceição de Jesus Marcella Garcez Duarte denise Rosso Tenório Wanderley Rocha Alberto Krayyem Arbex Division of Endocrinology IPEMED Medical School (IPEMED) Sao Paulo Brazil Brazilian Association of Nutrology (ABRAN) Catanduva Sao Paulo Brazil Visiting Scholar Harvard T. H. Chan School of Public Health Harvard University Boston USA

Diabetes and obesity are major health hazards in Latin America nowadays. Their prevalence has steadily increased since the eighties. Today, more than 50% of the population are overweight, 15% has obesity and 6% to 15% has diabetes. The nutrition transition is a long-term process that brings chronic metabolic diseases as an undesired consequence, whilst ultra processed foods become increasingly part of daily food choices. These changes bring impacts in all fields of daily life, especially in the economic and legal fields—the “Right to Health”—and regarding autonomy of the individual and their choices, when confronted with an ideal of health and well-being. Governments and citizens struggle to propose new pathways and find effective solutions to control both epidemics and solve these issues. This article poses the evolution of diabetes and obesity in the Mercosur, seeking a better understanding of these chronic, non-communicable diseases, and looking for concrete, effective solutions towards health in South America.

关键词： Obesity Diabetes Mercosur Nutrition Transition Right to Health South America

RANBP9 as potential therapeutic target in non-small cell lung cancer

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Journal of Cancer Metastasis and Treatment 2020年第1期6卷 177-187页

作者： Anna Tessari Shimaa H.A.Soliman Arturo Orlacchio marina Capece Joseph M.Amann rosa Visone David P.Carbone Dario Palmieri Vincenzo Coppola department of Cancer Biology and Genetics College of MedicineThe Ohio State University and Arthur G.James Comprehensive Cancer CenterColumbusOH 43210USA department of Medicine Dentistry and BiotechnologyG.d’Annunzio University of ChietiChieti 66100Italy Current address:department of Biochemistry and Molecular Genetics Northwestern University Feinberg School of MedicineChicagoIL 60611USA Division of Medical Oncology Department of Internal MedicineCollege of MedicineThe Ohio State University and Arthur G.James Comprehensive Cancer CenterColumbusOH 43210USA

Non-small cell lung cancer(NSCLC)remains the leading cause of cancer-related deaths in the Western *** progress made with targeted therapies and immune checkpoint inhibitors,the vast majority of patients have to undergo chemotherapy with platinum-based *** increase efficacy and reduce potential side effects,a more comprehensive understanding of the mechanisms of the DNA damage response(DDR)is *** have shown that overexpressby live cell imaging Incuyion of the scaffold protein RAN binding protein 9(RANBP9)is pervasive in *** importantly,patients with higher levels of RANBP9 exhibit a worse outcome from treatment with platinum-based ***,RANBP9 exists as a target and an enabler of the ataxia telangiectasia mutated(ATM)kinase ***,the depletion of RANBP9 in NSCLC cells abates ATM activation and its downstream targets such as pby live cell imaging Incuy53 ***9 knockout cells are more sensitive than controls to the inhibition of the ataxia and telangiectasia-related(ATR)kinase but not to ATM *** absence of RANBP9 renders cells more sensitive to drugs inhibiting the Poly(ADP-ribose)-Polymerase(PARP)resulting in a“BRCAness-like”*** summary,as a result of increased sensitivity to DNA damaging drugs conferred by its ablation in vitro and in vivo,RANBP9 may be considered as a potential target for the treatment of *** article aims to report the results from past and ongoing investigations focused on the role of RANBP9 in the response to DNA damage,particularly in the context of *** review concludes with future directions and speculative remarks which will need to be addressed in the coming years.

关键词： RANBP9 RANBP10 Scorpins DNA damage DNA repair DNA damage response CTLH complex cisplatin non-small cell lung cancer PARP BRCAness-like phenotype

Effect of a program to control perioperative blood glucose on the incidence of nosocomial infections in patients with diabetes: A pilot study

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Journal of Diabetes Mellitus 2012年第2期2卷 238-244页

作者： Javier Ena rosa Casan Maria Jose Carratala Edith Leutscher department of Internal Medicine Hospital Marina BaixaAlicanteSpain Division of Endocrinology and Metabolism Hospital Marina BaixaAlicanteSpain Division of Preventive Medicine Hospital Marina BaixaAlicanteSpain

Aim: To evaluate the safety and effectiveness of a pilot program to control perioperative blood glucose in patients with diabetes. Methods: A pre-post intervention study was conducted in a 280-bed hospital in Spain. In the year 2008 we implemented perioperative insulin protocols aimed at blood glucose values from 80 to 180 mg/dL. Surgical patients with diabetes admitted on year 2009 (intervention group) were compared with a control group of patients with diabetes admitted for surgery on year 2007, matched 1:1 by traditional wound class. Results: We analyzed 96 patients. Implemented protocols were followed in 48% of patients intra-operatively and 75% of patients postoperatively. Patients in the intervention group had reductions in blood glucose at surgery 150 +/- 61 mg/dL vs. 172 +/- 53 mg/dL;p = 0.05), greater proportion of target glucose values throughout hospitalization (67% vs. 55%;p = 0.07), and reductions in the incidence of nosocomial infections after controlling for confounders (Odds Ratio: 0.20;95% Confidence intervals: 0.06 - 0.72;p = 0.014) when they were compared with the control group: The incidence of hypoglycemia was similar between two groups (0.12% vs. 0.10%, p = 0.867), respectively. Conclusion: Although our protocol needs improvements to increase implementation it was useful to control blood glucose safely and for reducing nosocomial infections.

关键词： Diabetes Insulin/Administration and Dosage/Therapeutic Use Surgical Site Infection Nosocomial Infection