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

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

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Multiple phase detector of M-ary phase shift keying symbols in code division multiple access systems

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Journal of Central South University 2011年第4期18卷 1080-1086页

作者： QUAN Zhi federal University of juiz de fora Electrical Engineering Juiz de fora MG Brazil Zip

A novel iterative technique, the phase descent search detection was proposed. This technique constrained the solution （PDS） algorithm, for M-ary phase shift keying （M-PSK） symbols to have a unit magnitude and it was based on coordinate descent iterations where coordinates were the unknown symbol phases. The PDS algorithm, together with a descent local search （also implemented as a version of the PDS algorithm）, was used multiple times with different initializations in a proposed multiple phase detector; the solution with the minimum cost was then chosen as the final solution. The simulation results show that for highly loaded multiuser scenarios, the proposed technique has a detection performance that is close to the single-user bound. The results also show that the multiple phase detector allows detection in highly overloaded scenarios and it exhibits near-far resistance. In particular, the detector has a performance that is significantly better, and complexity that is significantly lower, than that of the detector based on semi-definite relaxation.

关键词： coordinate descent complexity M-ary phase shift keying (M-PSK) multiuser detection quadratic optimization semi-definite relaxation

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Effects of laying on of hands with and without a spiritual context on pain and functionality of older women with knee osteoarthritis:study protocol for a randomized controlled trial

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Journal of Integrative Medicine 2018年第2期16卷 106-112页

作者： Katy Andrade Monteiro Zacaron Nélia da Silva Mendes Yuri Cotta e Silva Giancarlo Lucchetti School of Medicine Federal University of Juiz de ForaJuiz de Fora 36036-330Brazil Institute of Life Sciences Department of PhysiotherapyFederal University of Juiz de ForaGovernador Valadares 35012-140Brazil Faculty of Physical Therapy Federal University of Juiz de ForaJuiz de Fora 36036-330Brazil

Background： Laying on of hands （LooH） is a culturally-accepted therapy in several traditions. In Brazil, ＂Spiritism＂（third-largest religious tradition in number of followers） uses LooH with the name of ＂Spiritist Passe＂（SP）. However, there are few studies assessing SP＇s role in medical outcomes. The present study aims to investigate the effects of LooH, with and without a spiritual context, on pain, joint stiffness, and functional capacity of older women （≥60 years old） with knee osteoarthritis （KOA）. Methods/design： In this triple-blind, prospective randomized controlled trial, older women with KOA are assigned to three groups： LooH with a spiritual context group, LooH group without a spiritual context, and a control group receiving no intervention. Patients are assessed by a blinded researcher at baseline, 8 weeks, and 16 weeks. Pain, joint stiffness, and functional capacity are assessed using Western Ontario and McMaster Universities Osteoarthritis Index. Other measures such as anxiety, depression, gait speed, and quality of life will also be assessed. To detect differences between groups, a post-intervention com- parison between the three groups and a mean change （post-pre） comparison among the three groups will be done using analysis of variance. All statistical analyses will be performed using an intention-to-treat approach and a per-protocol analysis. Discussion： A pragmatic design using SP, LooH without spiritual context, and no LooH may provide further scientific evidence on SP＇s feasibility and efficacy for KOA patients.

关键词： Complementary therapies Spiritual therapies Therapeutic touch Spiritual healing Holistic therapies Knee osteoarthritis

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Reply to"Six-minute walking test performance is associated with survival in cirrhotic patients"to the editor

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World Journal of Hepatology 2022年第5期14卷 1047-1049页

作者： Carla Malaguti Carlos Alberto Mourão-Junior Júlio Maria Chebli departament of Cardiorespiratory and Skeletal Muscle Universidade Federal de Juiz de ForaJuiz de Fora 36036-634Minas GeraisBrazil department of Physiology Universidade Federal de Juiz de ForaJuiz de Fora 36036-634Minas GeraisBrazil department of Medicine Universidade Federal de Juiz de ForaJuiz de Fora 36036-634Minas GeraisBrazil

Use of the six-minute walk test has been proposed as a prognostic marker in liver *** the Letter to the Editor presented here,the authors highlight some important points,which were raised after the article was publish... 详细信息

关键词： Six-minute walking test Liver cirrhosis Hospital admission and mortality

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Species composition and diversity of woody communities along an elevational gradient in tropical Dwarf Cloud Forest

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Journal of Mountain Science 2021年第6期18卷 1489-1503页

作者： Breno MOREIRA Pedro Manuel VILLA Carlos Mariano ALVEZ-VALLES Fabricio Alvim CARVALHO Botanical Garden Federal University of Juiz de ForaJuiz de Fora36045-500Brazil department of Forest Engineering Federal University of ViçosaViçosa36570-900Brazil department of Veterinary Medicine National University Major of San MarcosPucallpa25001Peru departament of Botany Federal University of Juiz de ForaJuiz de Fora36036-900 Brazil

Elucidating woody community diversity and structure change along environmental gradients is still a central issue of tropical forest ecology. We have evaluated changes in alpha and beta diversity, community composition and structure of woody communities along an elevational gradient in Dwarf Cloud Forests, Southeast Brazil. We selected five areas along an elevational gradient(1,300-1,600 m asl), and randomly allocated 10 plots(10 m × 20 m) in each area in the Ibitipoca State Park(ISP), Serra da Mantiqueira, southeastern Brazil. All woody species(diameter at breast height ≥ 5.0 cm) were collected for taxonomic identification. Thus, we analysed the woody communities based on a phytosociological approach. Overall, 147 species and 37 families were recorded, distributed in 2,303 individuals. No differences in the species richness pattern were observed between areas using the rarefaction and extrapolation curves. Significant differences in species composition and structure between areas were observed. The high beta diversity observed, corroborated by the Jaccard coefficient, increases with decreasing altitude. Our results showed that woody communities in the studied Dwarf Cloud Forests have a higher diversity and structural variability along elevational gradient.

关键词： Atlantic Forest Forest structure Ibitipoca State Park Serra da Mantiqueira

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Prevalence of pelvic floor disorders and the associated quality of life among institutionalized and noninstitutionalized elderly women:A cross-sectional study

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Current Urology 2023年第3期17卷 184-187页

作者： Heloisa da Costa Souza Lívia M.T.Pires Gláucia C.Vieira Edna A.B.Castro Elaine A.Moura Júlia Engelmann Diogo S.Fonseca Programa de Graduação em Fisioterapia Faculdade de FisioterapiaUniversidade Federal de Juiz de ForaJuiz de ForaBrazil Programa de Pós-Graduação em Ciências da Reabilitação e desempenho Físico Funcional Faculdade de FisioterapiaUniversidade Federal de Juiz de ForaJuiz de ForaBrazil Programa de Pós-Graduação em Enfermagem Faculdade de EnfermagemUniversidade Federal de Juiz de ForaJuiz de ForaBrazil Programa de Pós-Graduação em Psicologia Universidade Federal de Juiz de ForaJuiz de ForaBrazil

Background:An increase in life expectancy has led to an increased elderly *** turn,this aging population is more likely to develop health conditions,such as pelvic floor disorders(PFDs).This study aimed to assess the prevalence of these disorders and the associated quality of life in institutionalized and noninstitutionalized elderly *** and methods:A cross-sectional study was conducted with 80 female participants older than 60 years,divided into 2 groups:institutionalized and noninstitutionalized *** Pelvic Floor Distress Inventory Short-Form and a sociodemographic questionnaire were used.A chi-squared test was used to assess the differences in prevalence between ***:There was no statistically significant difference between the groups in the prevalence of PFDs or quality of *** this study,the prevalence of PFDs was higher than that reported *** institutionalized women,a higher prevalence of PFDs and impaired quality of life were expected,although not ***:There was a higher prevalence of pelvic disorders and impaired quality of life due to these disorders in elderly women.

关键词： Epidemiology Geriatrics Institutionalization Pelvic floor disorders Quality of life

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The nest architecture of the ant, Pheidole oxyops Forel, 1908 （Hymenoptera： Formicidae）

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Insect Science 2007年第5期14卷 437-442页

作者： LUIZ C. FORTI ROBERTO S. CAMARGO RICARDO T. FUJIHARA JULIANE F. S. LOPES Laboratorio de Insetos Sociais-Praga Departamento de Producao Vegetal - Setor Defesa Fitossanitaria FCA/UNESP Botucatu SP Comportamento e Ecologia Animal Instituto de Ciencias Biologicas Universidade Federal de Juiz de Fora Campus Universitario Martelos Juiz de Fora MG Brazil

Pheidole oxyops builds subterranean nests, with an external architecture that is distinctive and easily recognizable by its wide and specific entrance hole, measuring up to 12.2 cm in diameter, denoting a pitfall-trap. In order to study the nests＇ internal architecture, seven nests were excavated; four were identified with neutral talc, while the others were cast in cement and then excavated. Measurements were made in order to gain a better understand- ing of their structures, and a photographic documentation was obtained as well. The excavations revealed that the nests are perpendicular relative to the ground, beginning with a cylindrical channel with a mean length of 13.5 cm, containing irregular formations, and whose diameter becomes progressively narrower until the first chamber is formed. As the channel continues, dish-like chambers appear, interconnected by channels that become progressively narrower and longer, while the chambers are arranged at greater distances from each other as nest depth increases. Both channels and chambers are located on the vertical projection of the entrance hole. Nests may reach a depth of up to 5.09 m, with a number of chambers ranging between 4 and 14.

关键词： chambers nest architecture Pheidole pitfall-trap

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Spectroscopic investigations on Yb^3+ doped and Pr^3+/Yb^3+ codoped tellurite glasses for photonic applications

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Journal of Rare Earths 2021年第1期39卷 33-42,I0002页

作者： M.Seshadri M.J.V.Bell V.Anjos Y.Messaddeq Grupo de Engenharia e Espectroscopia de Materiais Departamento de Fisica-ICEUniversidade Federal de Juiz de ForaJuiz de ForaMG36036-900Brazil Centre d'Optique Photonique et Laser2375 Rue de la TerrasseUniversite LavalQuebecQCG1V 0A6Canada

In this work we repo rt on structural and spect roscopic properties of Yb^3+doped and Pr^3+/Yb^3+co-doped TeO2-Bi2 O3-ZnO-Li2 O-Nb2 O5(TBZLN)tellurite *** and stretching modes of TeO2 and Te-OH bond(strong and weak)were analysed from the deconvolution of observed Raman and FT-IR *** on the absorption measurements,the energy bands of Yb^3+and Pr^3+ions are *** spectroscopic properties for the radiative transitions of Yb^3+and Pr^3+ions were reported using McCumber and Judd-Ofelt *** emission bands originating from 3 P1 and 3 P0 to lower lying levels of Pr^3+were registered under 447 nm *** emission band around 1334 nm assigned to the Pr3:1 G4→3 H5 was observed when excited at 980 *** stimulated emission cross-section(σemi(λ))and effective linewidth(Δλeff)for the 3 P1→3 H6,3 P1→3 H5,3 P0→3 H6,3 P0→3 F2,3 P1→3 F3,3 P1→3 F4,3 P0→3 F4 and 1 G4→3 H5 transitions of Pr^3+are *** luminescence in Pr^3+/Yb^3+codoped glass upon 980 nm excitation was *** resonant transfer processes between Yb^3+and Pr^3+ions are presented and *** chromaticity co-ordinates were also evaluated from the visible emission spectra showing that Pr^3+/Yb^3+co-doped glass may be suitable for the development of yellow-orange(λexc=447 nm)and near white light(λexc=980 nm)emitting devices in photonics.

关键词： Rare earth ions Tellurite glass Spectroscopic properties Upconversion luminescence

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Diversity of the endophytic filamentous fungal leaf community at different development stages of eucalyptus

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Journal of Forestry Research 2019年第3期30卷 1093-1103页

作者： Paulo Sergio Balbino Miguel Fabio Balbino Miguel Bruno Coutinho Moreira Marcelo Nagem Valerio de Oliveira Julio Cesar delvaux Fernanda de Souza Freitas Arnaldo Chaer Borges Maurcio Dutra Costa departamento de Medicina e Enfermagem Universidade Federal de VicosaVicosaMinas Gerais 36570-000Brazil departamento de Quimica Universidade Federal de Juiz de ForaJuiz de ForaMinas Gerais 36036-300Brazil Colegiado de Engenharia Agronomica Universidade Federal do Vale do Sao FranciscoPetrolinaPernambuco 56300-990 Brazil departamento de Ciencias Basicas da Vida Campus Governador Valadares Universidade Federal de Juiz de Fora Governador ValadaresMinas Gerais 35012-140Brazil Coordenacao Geral de Ensino Pesquisa e Extensao Instituto Federal do Triangulo MineiroItuiutabaMinas Gerais 38035-200Brazil departamento de Microbiologia Instituto de Biotecnologia Aplicada aAgropecuariaUniversidade Federal de Vicosa VicosaMinas Gerais 36570-000Brazil

Fungal endophytic species inhabiting the leaves of eucalypts are capable of utilising leaf sugars and can influence both plant growth and health. Endophytic fungal symbionts can use simple soluble sugars in leaves as their main carbon source. This study set out to determine the diversity and distribution of the endophytic filamentous fungal leaf community in the hybrid Eucalyptus urograndis due to its economic importance. The fungal leaf community was characterised using denaturing gradient electrophoresis (DGGE) and correlated with levels of leaf nutrients and sugars throughout plant development. Sequencing of DGGE bands revealed the presence of Basidiomycota and Ascomycota phyla. Fourteen species and three genera of filamentous fungi were identified, and the population structure was affected by the plant developmental stage. Levels of K, Cu, N and Mn influenced communities from the clonal garden, whereas leaves in the field had higher glucose, fructose and sucrose. Many fungi were found to be specific to a certain development stages: Diplomitoporus crustulinus, Podosphaera tridactyla and Aspergillus restrictus to the clonal garden stage;Chaetomella acutiseta and Ascotricha chartarum to the shading stage;Erratomyces patelii and Saxomyces sp. to the shading output stage;Lepidostroma sp. and Saxomyces sp. to the dispatch stage;and Mycosphaerella populicola to the field stage. Teratosphaeria toledana and Teratosphaeria acidotherma were found at more than one developmental stage. Cladosporium sp. and Rhodosporidium fluviale colonized and persisted in plants at the dispatch and field stages. This is the first report of P. tridactyla, A. restrictus, E. patelii, Saxomyces and Lepidostroma sp. as endophytes in eucalipt.

关键词： Diversity 18S rRNA denaturing gradient electrophoresis(DGGE) Sequencing

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Trans-10,cis-12 conjugated linoleic acid reduces neutral lipid content and may affect cryotolerance of in vitro-produced crossbred bovine embryos

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Journal of Animal Science and Biotechnology 2014年第4期5卷 391-398页

作者： Ribrio Ivan Tavares Pereira Batista Nadia Rezende Barbosa Raposo Paulo Henrique Almeida Campos-Junior Michele Munk Pereira Luiz Sergio Almeida Camargo Bruno Campos Carvalho Marco Antonio Sundfeld Gama Joao Henrique Moreira Viana federal University of juiz de fora Juiz de ForaMG 36036-900Brazil Embrapa Dairy Cattle Research Center Juiz de ForaMG 36038-330Brazil federal University of Minas Gerais Belo HorizonteMG 31270-901Brazil

Background：Due to high neutral lipids accumulation in the cytoplasm,in vitro-produced embryos from Bos primigenius indicus and their crosses are more sensitive to chilling and cryopreservation than those from Bos primigenius *** objective of the present study was to evaluate the effects of trans-10,cis-12 conjugated linoleic acid（CLA） on the development and cryotolerance of crossbred Bos primigenius taurus x Bos primigenius indicus embryos produced in vitro,and cultured in the presence of fetal calf *** zygotes（n = 1,692）were randomly assigned to one of the following treatment groups：1） Control,zygotes cultured in Charles Rosenkrans 2 amino acid（CR2aa） medium（n = 815） or 2） CLA,zygotes cultured in CR2 aa medium supplemented with 100 μmol/L of trans-10,cis-12 CLA（n =877）.Embryo development（cleavage and blastocyst rates evaluated at days 3 and 8 of culture,respectively）,lipid content at morula stage（day 5） and blastocyst cryotolerance（re-expansion and hatching rates,evaluated 24 and 72 h post-thawing,respectively） were compared between ***,selected mRNA transcripts were measured by Real-Time PCR in blastocyst ***：The CLA treatment had no effect on cleavage and blastocyst rates,or on mRNA levels for genes related to cellular stress and *** the other hand,abundance of mRNA for the 1-acylglycerol-3-phosphate0-acyltransferase-encoding gene（AGPAT）,which is involved in triglycerides synthesis,and consequently neutral lipid content,were reduced by CLA treatment.A significant increase was observed in the re-expansion rate of embryos cultured with trans-10,cis-12 CLA when compared to control（56.3 vs.34.4%,respectively,P = 0.002）.However,this difference was not observed in the hatching rate（16.5 vs.14.0%,respectively,P=0.62）.Conclusions：The supplementation with trans-10,ds-12 CLA isomer in culture medium reduced the lipid content of in vitro produced bovine embryos by reducing the gene expression of 1-acylglycerol 3-phosphate 0

关键词： Blastocysts CLA Crossbred cattle Cryopreservation Lipid content

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