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Importance of neonatal screening:A case study of sickle cell disease and cystic fibrosis coexistence

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World Journal of Clinical Pediatrics 2025年第1期14卷 113-118页

作者： Nathalia Noyma Sampaio Magalhães Lucas Barra Mathiasi Daniela de Oliveira Werneck rodrigues department of Pediatrics Faculdade de Ciências Médicas e da Saúde de Juiz de ForaJuiz de Fora 36033-003Brazil department of Internal Medicine Rede D'Or Rio de JaneiroRio de Janeiro 22270-010Brazil department of Hematology Fundação HemominasJuiz de Fora 36010-560MGBrazil department of Internal Medicine Universidade Presidente Antônio Carlos-Faculdade de Medicina Juiz de ForaJuiz de Fora 36010-560Minas GeraisBrazil

BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other *** cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin *** is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface *** is crucial for early diagnosis and management,which ensures a better quality of *** To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature *** This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical *** authors identified only 5 cases of SCA associated with *** clinical trials or review articles were identified considering the rarity of the coexistence of these two *** Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive *** diagnosis of CF was confirmed by the Coulometry Sweat *** rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical *** This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

关键词： Sickle cell disease Sickle cell anemia Children Cystic fibrosis Neonatal Screening Case reports

Rare Case of a Newborn with Kasabach-Merritt Syndrome

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International Journal of Otolaryngology and Head & Neck Surgery 2025年第1期14卷 12-18页

作者： Rhael Sousa rodrigues Mayara Moreira de deus Maria Clara Azi Vaz de Campos Melissa Ameloti Gomes Avelino Uiversidade Federal de Gois Goinia Brazil

Kasabach-Merritt Syndrome consists of a set of signs and symptoms associated with capillary hemangioma with thrombocytopenia, which causes bleeding accompanied by petechiae, ecchymosis, and spontaneous hematomas. This present study aims to report a rare case of cervical lymphangioma (cystic hygroma) that later evolved into Kasabach-Merritt Syndrome, demonstrating the importance of systemic evaluation of veno-lymphatic malformations. Although rare, prompt diagnosis and therapy are necessary due to the high severity and potential fatality of the condition.”

关键词： Kasabach-Merritt Syndrome Cervicofacial Lymphangioma Hemangioma

The Abundance of the Remaining Mammalian Fauna and the Impacts of Hunting in a Biodiversity Hotspot’s Hotspot in the Atlantic Forest of North-Eastern Brazil

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Open Journal of Ecology 2025年第1期15卷 65-91页

作者： Éverton Renan de Andrade Melo José Ramon Gadelha Leandro Ricardo rodrigues de Lucena Antonio Rossano Mendes Pontes IBAMA-SCEN Brasilia Brazil Universidade Federal de Pernambuco Recife Pernambuco Brazil Universidade Federal Rural de Pernambuco Serra Talhada Pernambuco Brazil Camaragibe Pernambuco Brazil Former Address: INPA-NAPRR-Boa Vista Roraima Brazil

Although hunting in the north-eastern Atlantic forest of Brazil began more than 500 years ago, no study to date has evaluated its impacts on the region’s mammalian fauna. For one year we carried out diurnal and nocturnal surveys using the Line Transect method in seven forest fragments varying from 7.32 ha to 469.76 ha, within a 4000 ha forest island archipelago, in Pernambuco State, Atlantic forest of northeastern Brazil. We calculated species density, population size, biomass and synergetic biomass, and recorded direct and indirect human impacts along the study transects. We recorded 44 mammalian species, of which 45.5% (n = 20) went extinct through hunting. The smallest forest fragment had the lowest richness, diversity, population size, and total biomass. It also had no synergetic biomass. The largest fragment had the highest richness, total density, and population size. There was a statistically significant relationship between fragment area and number of gunshots heard and suspended hunting platforms found;between population size and gunshots heard, suspended hunting platforms, free-roaming and feral dogs, and between total density and free-roaming and feral dogs. After more than 500 years of colonization hunting is still devastating, with larger fragments being linked to more hunters. Higher mammal abundances attracted more free-roaming and feral dogs, which have adapted to hunt wildlife on their own. Unless we protect every single forest fragment and create sustainable landscapes, we will not be able to save this hotspot’s hotspot.

关键词： Atlantic Forest Mammals Abundance Human Impact Extinction

Oregano and Rosemary Essential Oils in Collagen Fiber and Polyvinyl Alcohol Films: Application as Biodegradable Active Packaging for Ready-to-Eat Meat Products

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Food and Nutrition Sciences 2025年第1期16卷 1-27页

作者： Suslin Raatz Thiel Cássio Poerschke rodrigues José Dilson Francisco da Silva Mari Silvia rodrigues de Oliveira Stephanie Reis Ribeiro Rosa Cristina Prestes Ernesto Hashime Kubota Roger Wagner Renius Mello department of Food Science and Technology Universidade Federal de Santa Maria Rio Grande do Sul Brazil

developing packaging using biomaterials offers a solution to the problem of solid plastic waste in urban areas. However, selecting suitable materials remains challenging, particularly when the packaging is intended for food products with high moisture content, such as meat. In response to this challenge, a novel film comprising a blend of collagen fiber and polyvinyl alcohol, supplemented with varying concentrations of oregano and rosemary essential oils, was developed. The mechanical properties, in vitro antioxidant activity, and chemical composition of these collagen fiber and polyvinyl alcohol films, enhanced with oregano and rosemary essential oils, were thoroughly characterized. The compounds γ-terpinene and ρ-cymene played a significant role in the antioxidant activity of the packaging. The impact of this active packaging on the quality of sliced mortadella was evaluated over 0, 3, 6, and 9 days of refrigeration. Time significantly influenced most of the variables examined. The concentration of essential oils (0%, 2%, 4%, and 6%) significantly affected the moisture level, water activity, pH, and Escherichia coli count in the packaged product. For lipid oxidation analysis, the type of essential oil proved significant, with oregano essential oil demonstrating superior activity. A pro-oxidant effect was noted in products with 6% rosemary essential oil. Packages containing essential oils from oregano and rosemary exhibited lower E. coli counts. Films enriched with essential oils showed a higher rate of biodegradation.

关键词： Lipid Oxidation Escherichia coli Principal Component Analysis Bioactive Compounds Shelf Life Mechanical Properties

Physiology and health assessment,risk balance,and model for endstage liver disease scores:Postoperative outcome of liver transplantation

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World Journal of Transplantation 2025年第1期15卷 86-94页

作者： Raquel Hohenreuther Andresa ThoméSilveira Edison Moraes rodrigues Filho Anderson Garcez Bruna Goularth Lacerda Sabrina Alves Fernandes Claudio Augusto Marroni Postgraduate Program in Hepatology Universidade Federal de Ciências da Saúde de Porto AlegrePorto Alegre 90050-170Brazil department of Intensive Medicine Hospital de Clínicas de Porto AlegrePorto Alegre 90035-903Brazil department of Public Health University of Vale do Rio dos SinosSao Leopoldo 93022-750Brazil

BACKGROUND Liver transplantation aims to increase the survival of patients with end-stage liver diseases and improve their quality of *** number of organs available for transplantation is lower than the *** provide fair organ distribution,predictive mortality scores have been *** To compare the Acute Physiology and Chronic Health Evaluation IV(APACHE IV),balance of risk(BAR),and model for end-stage liver disease(MELD)scores as predictors of *** Retrospective cohort study,which included 283 adult patients in the postoperative period of deceased donor liver transplantation from 2014 to *** The transplant recipients were mainly male,with a mean age of 58.1 *** were mostly male,with a mean age of 41.6 *** median cold ischemia time was 3.1 hours,and the median intensive care unit stay was 5 *** APACHE IV,a mean of 59.6 was found,BAR 10.7,and MELD *** 28-day mortality rate was 9.5%,and at 90 days,it was 3.5%.The 28-day mortality prediction for APACHE IV was very good[area under the curve(AUC):0.85,Pderate for BAR and MELD,respectively,(AUC:0.66,Pdeaths and *** for the best value for liver transplantation,it was significant only for APACHE IV(Pdeceased donor liver transplant recipients.

关键词： Liver transplantation Acute physiology and chronic health evaluation IV Balance of risk Model for end-stage liver disease Mortality Intensive care unit

Imbalance in T-cell differentiation as a biomarker of chronic diabetic foot ulceration

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Cellular & Molecular Immunology 2019年第10期16卷 833-834页

作者： Joao moura Joao rodrigues Marta Gonçalves Claudia Amaral Margarida Lima Eugenia Carvalho Center for Neuroscience and Cell Biology(CNC) University of CoimbraCoimbraPortugal INEB-Instituto Nacional de Engenharia Biomedica University of PortoPortoPortugal I3S-Instituto de Investigaçao e Inovaçao em Saude University of PortoPortoPortugal department of Hematology Hospital de Santo Antonio(HSA)Centro Hospitalar Universitario do Porto(CHUP)PortoPortugal Unidade Multidisciplinar de Investigaçao Biomedica(UMIB/ICBAS/UP) PortoPortugal department of Endocrinology Hospital de Santo Antonio(HSA)Centro Hospitalar Universitário do Porto(CHUP)PortoPortugal department of Geriatrics University of Arkansas for Medical Sciences(UAMS)and Arkansas Children’s Hospital Research Institute(ACHRI)Little RockArkansas 72202USA

Diabetes is a growing epidemic due to the systematic increase in overweight and obesity,and chronic diabetic foot ulcers(DFUs)are the most debilitating and costly complication of *** is still essential for DFU care,but early detection is limited because we do not have a good DFU ***,we report the preliminary results of a large longitudinal study to test the effectiveness of the use of T-cell phenotype and TCR repertoire diversity as DFU *** results show that the ratio of effector/naïve T-cells and the number of TCR expansions are valuable biomarkers of DFU prognosis.

关键词： diabetic chronic obesity

Characterization of Cnidoscolus quercifolius Pohl bark root extract and evaluation of cytotoxic effect on human tumor cell lines

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Asian Pacific Journal of Tropical Biomedicine 2018年第7期8卷 345-351页

作者： Paulo Fernando Machado Paredes Selene Maia de Morais Fernando Cesar rodrigues Brito Luiz Francisco Wemmenson Goncalves moura Patricia de Araujo rodrigues Stephen Rathinaraj Benjamin Francisco Ernani Alves Magalhaes Eridan Orlando Pereira Tramontina Florean Maria Izabel Florindo Guedes Northeast Biotechnology Network Graduate Program of Biotechnology State University of Ceara Itaperi campus department of Chemistry State University of Ceara Itaperi campus Laboratory of Bioprospecting of Natural Products and Biotechnology State University of CearaCECITEC

Objective: To evaluate the chemical components of active extract from Cnidoscolus quercifolius root bark and its cytotoxic potential against several tumor strains. Methods: The high-performance liquid chromatography with diode-array detection and ~1H and ^(13)C nuclear magnetic resonance spectroscopy of the extract were used to distinguish the existence of possible functional groups in the root bark extract. The in vitro cytotoxic activity of methanol extract on human colon cancer cell lines was evaluated using OVCAR-8, SF-295, HCT-116, HL-60 strains and the samples were assessed by 3-(4,5-dimethylthiazol2-yl)-2,5-diphenyltetrazolium bromide method. Results: The analysis of nuclear magnetic spectra of the active chloroform fraction revealed the presence of absorptions bands correspondent to a mixture of favelines such as neofavelanone, deoxofaveline or methyl-faveline, which structures were confirmed by ultraviolet spectra upon high-performance liquid chromatography with diode-array detection analysis. The active fraction showed cytotoxic effects in the tested strains, HCT-116, SF-295, OVCAR-8 and HL-60 cells with IC_(50) of 72 hours ranging from 4.95 to 15.23 μg/mL. Conclusions: The results suggest that the substances present in faveleira(Cnidoscolus quercifolius) root bark extract have a cytotoxic potential against several tumor lines, showing a broader antitumour potential, and in addition no adverse to healthy cells. Therefore, the root bark extract of Cnidoscolus quercifolius has a possibility of use for anticarcinogenic therapies.

关键词： Cnidoscolus quercifolius Pohl. methyl-faveline deoxofaveline Neofavelanone Faveline Cytotoxicity

Impaired T-cell differentiation in diabetic foot ulceration

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Cellular & Molecular Immunology 2017年第9期14卷 758-769页

作者： João moura João rodrigues Marta Gonçalves Cláudia Amaral Margarida Lima Eugénia Carvalho Center for Neuroscience and Cell Biology(CNC) University of Coimbra3004-517 CoimbraPortugal Hospital de Santo Antonio(HSA) Centro Hospitalar do Porto(CHP)4099-001 PortoPortugal Unidade Multidisciplinar de Investigação Biomédica(UMIB/ICBAS/UP) PortoPortugal department of Geriatrics University of Arkansas for Medical Sciences(UAMS)Little RockAR 72202USA Arkansas Children's Hospital Research Institute(ACHRI) Little RockAR 72202USA

Foot ulceration is one of the most debilitating complications associated with diabetes,but its cause remains poorly *** studies have been undertaken to understand healing kinetics or find possible therapies to enhance ***,few studies have been directed at understanding the immunological alterations that could influence wound healing in *** this study,we analysed the T-cell receptor(TCR)repertoire diversity in TCR-αβ^(+)T *** also analysed the distribution and phenotype of T cells obtained from the peripheral blood of healthy controls and diabetic individuals with or without foot *** results showed that diabetic individuals,especially those with foot ulcers,have a significantly lower naive T-cell number and a poorer TCR-Vβrepertoire *** also showed that the reduced TCR-Vβrepertoire diversity in diabetic individuals was mainly owing to the accumulation of effector T cells,the major source of tumour necrosis factor-αproduction,which was even more pronounced in patients with acute foot ***,the expression of several inflammatory chemokine receptors was significantly reduced in diabetic *** conclusion,effector T-cell accumulation and TCR repertoire diversity reduction appear to precede the development of foot *** finding may open new immunological therapeutic possibilities and provide a new prognostic tool in diabetic wound care.

关键词： diabetes T-cells T-cell repertoire diversity wound healing

Techno-economic feasibility assessment of a diesel exhaust heat recovery system to preheat mine intake air in remote cold climate regions

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International Journal of Mining Science and Technology 2020年第4期30卷 517-523页

作者： Marco Antonio rodrigues de Brito Durjoy Baidya Seyed Ali Ghoreishi-Madiseh Norman B.Keevil Institute of Mining Engineering The University of British ColumbiaVancouverBC V6T 1Z4Canada

Underground mines in Arctic and Subarctic regions require the preheating of mine intake air during *** cold fresh air of those remote areas can be as severe as40℃ and commonly needs to be heated to around+3℃.This extensive amount of heating is usually provided by employing large-size air heaters,fueled by diesel,propane,natural gas,or heavy oil,leading to high energy costs and large carbon *** the same time,the thermal energy content of a diesel generator sets(gen-sets)exhaust is known to be one-third of the total heating value of its combusted *** heat recovery from diesel gen-sets is a growing technology that seeks to mitigate the energy costs by capturing and redirecting this commonly rejected exhaust heat to other applications such as space heating or pre-heating of the mine intake *** present study investigated the possibility of employing a simple system based on off-theshelf heat exchanger technology,which can recover the waste heat from the exhaust of the power generation units(diesel gen-sets)in an off-grid,cold,remote mine in Canada for heating of the mine intake *** from a real mine was used for the analysis along with environmental data of three different location-scenarios with distinct *** developing a thermodynamic model,the heat savings were calculated,and an economic feasibility evaluation was *** proposed system was found highly viable with annual savings of up to C$6.7 million and capable enough to provide an average of around 75%of the heating demand for mine intake air,leading to a payback period of about eleven months or less for all *** of seasonal thermal energy storage has also been recommended to mitigate the mismatch between supply and demand,mainly in summertime,possibly allowing the system to eliminate fuel costs for intake air heating.

关键词： Exhaust heat recovery Mine energy management Mine heating Alternative energy Intake air heating