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1.
Braz. j. biol ; 82: e245261, 2022. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1249221

RESUMO

Abstract Present study was planned to determine variations in external and internal quality egg parameters of different avian species including ostrich Struthio camelus, ducks Anas platyrhynchos, chicken Gallus gallus, turkeys Meleagris gallopavo and grey francolin Francolinus pondicerinus. All the birds were kept under similar rearing conditions. A total of 150 eggs were collected for each species to record external features of these eggs. Statistically significant (p<0.05) variations were recorded in egg weight, egg length and egg width between ostrich, ducks, chicken, turkey and quail eggs. Significantly (p<0.05) higher egg weight, egg length and egg width was observed for ostrich eggs while the same was lowest for grey francolin eggs. Similarly, significantly (p<0.05) greater shape index and egg volume values were observed for ostrich eggs while lowest shape index values were recorded for turkey eggs and egg volume was lowest for grey francolin. Significantly, higher (p<0.05) values of egg density were noted for eggs of the quail and the same were lowest for ostrich eggs. Non-significant variations in egg density values were observed between eggs of the ducks, chicken, turkey and grey francolin. It has been concluded that the positive correlations between the internal and external egg quality traits indicated that the traits can be improved through selection.


Resumo O presente estudo foi planejado para determinar variações nos parâmetros externos e internos de qualidade dos ovos de diferentes espécies de aves, incluindo avestruz Struthio camelus, patos Anas platyrhynchos, frango Gallus gallus, perus Meleagris gallopavo e francolin cinza Francolinus pondicerinus. Todas as aves foram mantidas em condições de criação semelhantes. Um total de 150 ovos foi coletado para cada espécie para registrar as características externas desses ovos. Variações estatisticamente significativas (p < 0,05) foram registradas no peso do ovo, comprimento do ovo e largura do ovo entre os ovos de avestruz, patos, galinha, peru e codorna. Significativamente (p < 0,05) maior peso do ovo, comprimento e largura do ovo foram observados para ovos de avestruz, enquanto o mesmo foi menor para ovos de francolina cinza. Da mesma forma, significativamente (p < 0,05) maiores valores de índice de forma e volume de ovo foram observados para ovos de avestruz, enquanto os menores valores de índice de forma foram registrados para ovos de peru e o volume de ovo foi menor para francolina cinza. Significativamente, maiores (p < 0,05) valores de densidade de ovos foram observados para ovos de codorna e os mesmos foram menores para ovos de avestruz. Variações não significativas nos valores de densidade de ovos foram observadas entre os ovos de pato, frango, peru e francolina cinza. Concluiu-se que as correlações positivas entre as características internas e externas de qualidade do ovo indicaram que as características podem ser melhoradas por meio da seleção.

2.
Pediatr Radiol ; 2021 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-34734315

RESUMO

Newer-generation CT scanners with ultrawide detectors or dual sources offer millisecond image acquisition times and significantly decreased radiation doses compared to historical cardiac CT and CT angiography. This technology is capable of nearly freezing cardiac and respiratory motion. As a result, CT is increasingly used for diagnosing and monitoring cardiac and vascular abnormalities in the pediatric population. CT is particularly useful in the setting of pulmonary vein evaluation because it offers evaluation of the entire pulmonary venous system and lung parenchyma. In this article we review a spectrum of congenital and acquired pulmonary venous abnormalities, including potential etiologies, CT imaging findings and important factors of preoperative planning. In addition, we discuss optimization of CT techniques for evaluating the pulmonary veins.

3.
Braz J Biol ; 83: e246229, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34468515

RESUMO

During this one year study, blood and fecal samples of doves (Zenaida asiatica), ducks (Anas platyrhynchos), pigeons (Columba livia), partridges (Alectoris chukar), turkeys (Meleagris gallopavo) and goose (Chen caerulescens) were collected to assess the parasitic prevalence in these birds. The birds were kept at Avian Conservation and Research Center, Department of Wildlife and Ecology, University of Veterinary and Animal Sciences, Lahore. All these avian species were kept in separate cages and their entire body was inspected on regularly basis to record external parasites. For internal parasites, 100 blood and 100 fecal samples for each species were analyzed. During present study, two species of ectoparasites i.e. fowl ticks (Args persicus) and mite (Dermanyssus gallinae) while 17 species of endoparasites; three from blood and 14 from fecal samples were identified. Prevalence of blood parasites was Plasmodium juxtanucleare 29.3%, Aegyptinella pullorum 15% and Leucoctoyzoon simond 13%. Parasitic species recorded from fecal samples included 6 species of nematodes viz. Syngamus trachea with parasitic prevalence of 50%, Capillaria anatis 40%, Capillaria annulata 37.5%, Heterakis gallinarum 28.3%, Ascardia galli 24% and Allodpa suctoria 2%. Similarly, two species of trematodes viz. Prosthogonimus ovatus having parasitic prevalence of 12.1% and Prosthogonimus macrorchis 9.1% were also recorded from fecal samples of the birds. Single cestode species Raillietina echinobothrida having parasitic prevalence of 27% and 3 protozoan species i.e. Eimeria maxima having prevalence 20.1%, Histomonas meleagridis 8% and Giardia lamblia 5.3% were recorded. In our recommendation, proper medication and sanitation of the bird's houses and cages is recommended to avoid parasites.


Assuntos
Doenças das Aves , Parasitos , Animais , Doenças das Aves/epidemiologia , Columbidae , Paquistão/epidemiologia , Prevalência
4.
Braz J Biol ; 82: e245261, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34076170

RESUMO

Present study was planned to determine variations in external and internal quality egg parameters of different avian species including ostrich Struthio camelus, ducks Anas platyrhynchos, chicken Gallus gallus, turkeys Meleagris gallopavo and grey francolin Francolinus pondicerinus. All the birds were kept under similar rearing conditions. A total of 150 eggs were collected for each species to record external features of these eggs. Statistically significant (p<0.05) variations were recorded in egg weight, egg length and egg width between ostrich, ducks, chicken, turkey and quail eggs. Significantly (p<0.05) higher egg weight, egg length and egg width was observed for ostrich eggs while the same was lowest for grey francolin eggs. Similarly, significantly (p<0.05) greater shape index and egg volume values were observed for ostrich eggs while lowest shape index values were recorded for turkey eggs and egg volume was lowest for grey francolin. Significantly, higher (p<0.05) values of egg density were noted for eggs of the quail and the same were lowest for ostrich eggs. Non-significant variations in egg density values were observed between eggs of the ducks, chicken, turkey and grey francolin. It has been concluded that the positive correlations between the internal and external egg quality traits indicated that the traits can be improved through selection.


Assuntos
Galinhas , Struthioniformes , Animais , Paquistão
5.
iScience ; 23(11): 101700, 2020 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-33196025

RESUMO

A major feature of amyotrophic lateral sclerosis (ALS) pathology is the accumulation of ubiquitin (Ub) into intracellular inclusions. This sequestration of Ub may reduce the availability of free Ub, disrupting Ub homeostasis and ultimately compromising cellular function and survival. We previously reported significant disturbance of Ub homeostasis in neuronal-like cells expressing mutant SOD1. Here, we show that Ub homeostasis is also perturbed in neuronal-like cells expressing either TDP-43 or FUS. The expression of mutant TDP-43 and mutant FUS led to UPS dysfunction, which was associated with a redistribution of Ub and depletion of the free Ub pool. Redistribution of Ub is also a feature of sporadic ALS, with an increase in Ub signal associated with inclusions and no compensatory increase in Ub expression. Together, these findings suggest that alterations to Ub homeostasis caused by the misfolding and aggregation of ALS-associated proteins play an important role in the pathogenesis of ALS.

7.
Nat Commun ; 7: 11253, 2016 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-27080313

RESUMO

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated protein aggregates, of which TDP-43 is a major component, are a characteristic pathological feature of most ALS and FTD patients. Here we use genome-wide linkage analysis in a large ALS/FTD kindred to identify a novel disease locus on chromosome 16p13.3. Whole-exome sequencing identified a CCNF missense mutation at this locus. Interrogation of international cohorts identified additional novel CCNF variants in familial and sporadic ALS and FTD. Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort. CCNF encodes cyclin F, a component of an E3 ubiquitin-protein ligase complex (SCF(Cyclin F)). Expression of mutant CCNF in neuronal cells caused abnormal ubiquitination and accumulation of ubiquitinated proteins, including TDP-43 and a SCF(Cyclin F) substrate. This implicates common mechanisms, linked to protein homeostasis, underlying neuronal degeneration.


Assuntos
Esclerose Amiotrófica Lateral/genética , Ciclinas/genética , Demência Frontotemporal/genética , Predisposição Genética para Doença/genética , Mutação de Sentido Incorreto , Adulto , Idoso , Sequência de Aminoácidos , Animais , Linhagem Celular Tumoral , Mapeamento Cromossômico , Cromossomos Humanos Par 16/genética , Saúde da Família , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Análise de Sequência de DNA/métodos , Homologia de Sequência de Aminoácidos
8.
Sci Rep ; 5: 13416, 2015 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-26293199

RESUMO

Amyotrophic lateral sclerosis is a rapidly progressing neurodegenerative disease associated with protein misfolding and aggregation. Most cases are characterized by TDP-43 positive inclusions, while a minority of familial ALS cases are instead FUS and SOD1 positive respectively. Cells can generate inclusions of variable type including previously characterized aggresomes, IPOD or JUNQ structures depending on the misfolded protein. SOD1 invariably forms JUNQ inclusions but it remains unclear whether other ALS protein aggregates arise as one of these previously described inclusion types or form unique structures. Here we show that FUS variably partitioned to IPOD, JUNQ or alternate structures, contain a mobile fraction, were not microtubule dependent and initially did not contain ubiquitin. TDP-43 inclusions formed in a microtubule independent manner, did not contain a mobile fraction but variably colocalized to JUNQ inclusions and another alternate structure. We conclude that the RNA binding proteins TDP-43 and FUS do not consistently fit the currently characterised inclusion models suggesting that cells have a larger repertoire for generating inclusions than currently thought, and imply that toxicity in ALS does not stem from a particular aggregation process or aggregate structure.


Assuntos
Esclerose Amiotrófica Lateral/metabolismo , Proteínas de Ligação a DNA/metabolismo , Corpos de Inclusão/metabolismo , Proteínas Mutantes/metabolismo , Proteína FUS de Ligação a RNA/metabolismo , Superóxido Dismutase/metabolismo , Linhagem Celular Tumoral , Humanos , Microtúbulos/metabolismo , Agregados Proteicos , Especificidade por Substrato , Transfecção , Ubiquitina/metabolismo , Ubiquitinação
9.
Int J Biochem Cell Biol ; 50: 123-6, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24589709

RESUMO

Ubiquilin 2, which is encoded by the UBQLN2 gene, plays a critical role in protein clearance pathways including the ubiquitin-proteasome system and autophagy. Ubiquilin 2 physically associates with ubiquitin ligases and proteasomes to mediate protein degradation. It also plays a role in the regulation of cell signalling and cell cycle progression, and association with cytoskeletal elements. Recent studies have revealed that ubiquilin 2 also plays a pathogenic role in neurodegenerative disease, including amyotrophic lateral sclerosis (ALS), and ALS-frontotemporal dementia (ALS-FTD). Rare UBQLN2 mutations cause a small subset of ALS and ALS-FTD cases. More widespread is the presence of ubiquilin 2 positive inclusions in the affected neurons of some familial and sporadic ALS and ALS-FTD patients. These discoveries have led to the hypothesis that perturbation in protein clearance, mediated by ubiquilin 2, is an important pathogenic mechanism in neurodegeneration.


Assuntos
Demência/etiologia , Doenças Neurodegenerativas/metabolismo , Complexo de Endopeptidases do Proteassoma/metabolismo , Ubiquitinas/metabolismo , Proteínas Adaptadoras de Transdução de Sinal , Esclerose Amiotrófica Lateral/enzimologia , Esclerose Amiotrófica Lateral/metabolismo , Animais , Proteínas Relacionadas à Autofagia , Proteínas de Ciclo Celular/metabolismo , Humanos , Doenças Neurodegenerativas/enzimologia
10.
Neurobiol Aging ; 34(9): 2235.e7-10, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23635659

RESUMO

Mutations in PFN1, a gene encoding the actin monomer-binding protein profilin 1, were recently reported in 1% to 2% of familial amyotrophic lateral sclerosis (ALS) patients. In vitro functional studies suggested that PFN1 mutations lead to ubiquitin-positive inclusions and impairment of cytoskeletal pathways. In the present study, mutation analysis of PFN1 was performed in an Australian cohort of 110 ALS families and 715 sporadic ALS patients. No PFN1 mutations were identified in familial ALS patients. Two rare non-synonymous variants (E117D and E117G) were found in sporadic ALS patients at similar incidences to that reported in public SNP databases. Immunostaining of PFN1 in sporadic ALS and familial ALS patients, including those with mutations in SOD1, FUS, UBQLN2 and C9ORF72, found no PFN1-positive inclusions in spinal motor neurons. Our data suggest that PFN1 mutations and pathology are not common in an Australian ALS cohort of predominantly European ancestry.


Assuntos
Esclerose Amiotrófica Lateral/genética , Mutação , Profilinas/genética , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Masculino
11.
Hum Mol Genet ; 22(4): 717-28, 2013 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-23172909

RESUMO

Fused in sarcoma (FUS) is mutated in both sporadic amyotrophic lateral sclerosis (ALS) and familial ALS patients. The mechanisms underlying neurodegeneration are not fully understood, but FUS redistributes from the nucleus to the cytoplasm in affected motor neurons, where it triggers endoplasmic reticulum (ER) stress. Ataxin-2 is a polyglutamine protein which normally contains 22 repeats, but expanded repeats (>34) are found in Spinocerebellar Ataxia type 2. Recently ataxin-2 with intermediate length repeats (27-33) was found to increase the risk of ALS. Here we show that ataxin-2 with an ALS-linked intermediate length repeat (Q31) is a potent modifier of FUS pathology in cellular disease models. Translocation of FUS to the cytoplasm and ER stress were significantly enhanced by co-expression of mutant FUS with ataxin-2 Q31. Ataxin-2 also co-localized with FUS in sporadic and FUS-linked familial ALS patient motor neurons, co-precipitated with FUS in ALS spinal cord lysates, and co-localized with FUS in the ER-Golgi compartments in neuronal cell lines. Fragmentation of the Golgi apparatus is linked to neurodegeneration in ALS and here we show that Golgi fragmentation is induced in cells expressing mutant FUS. Moreover, Golgi fragmentation was enhanced, and the early stages of apoptosis were triggered, when ataxin-2 Q31 was co-expressed with mutant FUS. These findings describe new cellular mechanisms linking ALS with ataxin-2 intermediate length polyQ expansions and provide further evidence linking disruption to ER-Golgi compartments and FUS pathology in ALS.


Assuntos
Esclerose Amiotrófica Lateral/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Peptídeos/metabolismo , Proteína FUS de Ligação a RNA/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Esclerose Amiotrófica Lateral/patologia , Animais , Apoptose , Ataxinas , Estudos de Casos e Controles , Linhagem Celular , Criança , Citoplasma/metabolismo , Grânulos Citoplasmáticos/metabolismo , Retículo Endoplasmático/metabolismo , Estresse do Retículo Endoplasmático , Feminino , Complexo de Golgi/metabolismo , Humanos , Corpos de Inclusão/metabolismo , Masculino , Camundongos , Mitocôndrias/metabolismo , Mutação de Sentido Incorreto , Proteínas do Tecido Nervoso/genética , Peptídeos/genética , Ligação Proteica , Transporte Proteico , Proteína FUS de Ligação a RNA/genética , Medula Espinal/metabolismo , Medula Espinal/patologia , Expansão das Repetições de Trinucleotídeos , Proteína X Associada a bcl-2/metabolismo
12.
Neurobiol Aging ; 33(10): 2527.e3-10, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22717235

RESUMO

Amyotrophic lateral sclerosis (ALS) shows clinical and pathological overlap with frontotemporal dementia that includes the presence of hallmark ubiquitinated inclusions in affected neurons. Mutations in UBQLN2, which encodes ubiquilin 2, were recently identified in X-linked juvenile and adult-onset ALS and ALS/dementia. As part of an established exome sequencing program to identify disease genes in familial ALS, we identified a novel missense UBQLN2 mutation (c.1460C>T, p.T487I) in 2 apparently unrelated multigenerational ALS families with no evidence of frontotemporal dementia. This mutation segregated with the disease and was absent in 820 healthy controls and all public single nucleotide polymorphism databases. The UBQLN2 p.T487I mutation substitutes a highly conserved residue and is located immediately upstream of a PXX region where all previous mutations have been identified. Immunostaining of spinal cord from a patient with UBQLN2 p.T487I mutation showed colocalization of ubiquilin 2 with ubiquitin in all neuronal inclusions examined and frequent colocalization with TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma protein (FUS). To examine ubiquilin 2 pathology in broader ALS, we showed that ubiquilin 2 pathology also extends to ALS with a FUS mutation. These data further support the importance of ubiquilin 2 in the pathogenesis of ALS.


Assuntos
Esclerose Amiotrófica Lateral/genética , Proteínas de Ciclo Celular/genética , Mutação de Sentido Incorreto , Ubiquitinas/genética , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Idade de Início , Idoso , Esclerose Amiotrófica Lateral/patologia , Proteínas Relacionadas à Autofagia , Sequência de Bases , Proteínas de Ligação a DNA/análise , Feminino , Humanos , Corpos de Inclusão/patologia , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Proteína FUS de Ligação a RNA/genética , Análise de Sequência de DNA , Medula Espinal/patologia , Proteinopatias TDP-43/patologia
13.
Neurobiol Aging ; 33(12): 2855-68, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22459602

RESUMO

Mutations in the gene encoding fused in sarcoma (FUS) are linked to amyotrophic lateral sclerosis (ALS), but the mechanisms by which these mutants trigger neurodegeneration remain unknown. Endoplasmic reticulum (ER) stress is increasingly recognized as an important and early pathway to motor neuron death in ALS. FUS is normally located in the nucleus but in ALS, FUS redistributes to the cytoplasm and forms inclusions. In this study, we investigated whether FUS induces ER stress in a motor neuron like cell line (NSC-34). We demonstrate that ER stress is triggered in cells expressing mutant FUS, and this is closely associated with redistribution of mutant FUS to the cytoplasm. Mutant FUS also colocalized with protein disulfide-isomerase (PDI), an important ER chaperone, in NSC-34 cells and PDI was colocalized with FUS inclusions in human ALS lumbar spinal cords, in both sporadic ALS and mutant FUS-linked familial ALS tissues. These findings implicate ER stress in the pathophysiology of FUS, and provide evidence for common pathogenic pathways in ALS linked to the ER.


Assuntos
Estresse do Retículo Endoplasmático/genética , Mutação/fisiologia , Neurônios/ultraestrutura , Isomerases de Dissulfetos de Proteínas/metabolismo , Proteína FUS de Ligação a RNA/genética , Análise de Variância , Animais , Arginina/genética , Calreticulina/metabolismo , Linhagem Celular Transformada , Cisteína/genética , Citoplasma/metabolismo , Proteínas de Ligação a DNA/metabolismo , Proteínas de Fluorescência Verde/genética , Histidina/genética , Humanos , Imunoprecipitação , Camundongos , Neurônios/metabolismo , Proteína FUS de Ligação a RNA/metabolismo , Fatores de Transcrição de Fator Regulador X , Fator de Transcrição CHOP , Fatores de Transcrição/metabolismo , Transfecção
14.
Tech Vasc Interv Radiol ; 14(4): 217-24, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22099014

RESUMO

Venous access is 1 of the most common interventional procedures in the USA. Using image guidance in the last 2 decades, obtaining venous access has become increasingly routine, and the complications commonly associated with the procedure have significantly decreased. However, interventional radiologists still encounter both early and late complications routinely associated with both central and peripherally inserted access devices. This article discusses the most common and some unusual complications seen with the placement of these devices. We also briefly discuss the management of these complications.


Assuntos
Cateterismo Venoso Central/efeitos adversos , Cateterismo Venoso Central/instrumentação , Cateteres de Demora , Desenho de Equipamento , Humanos , Flebografia , Prognóstico , Radiografia Intervencionista , Fatores de Tempo
15.
J Med Case Rep ; 4: 284, 2010 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-20731840

RESUMO

INTRODUCTION: Spontaneous intrauterine arterial thrombosis and congenital pulmonary hypoplasia are rare conditions and have not been reported to occur together. The literature rather includes two reports of babies with neonatal pulmonary artery occlusion and post-infarction cysts of the lungs. CASE PRESENTATION: We report a case of a live Caucasian male newborn with left lung hypoplasia that occurred in association with left pulmonary artery thrombosis. Despite a critical neonatal course, including extracorporeal membrane oxygenation, this infant is alive and well at 18 months of age without any neurodevelopmental sequelae or reactive airway disease. CONCLUSION: This association suggests the possibility of an intrauterine vascular event between the fifth and eighth weeks of gestation during early pulmonary artery and lung development.

16.
Int J Biochem Cell Biol ; 42(10): 1606-9, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20601083

RESUMO

Transactive response DNA binding protein 43 kDa (TDP-43) is a DNA and RNA binding protein involved in RNA processing and with structural resemblance to heterogeneous ribonucleoproteins (hnRNPs). TDP-43 serves multiple functions with roles in transcriptional regulation, pre-mRNA splicing and translational regulation. TDP-43 is also crucial for embryonic development with increasing evidence indirectly implicating its involvement in other cellular processes including microRNA biogenesis, apoptosis and cell division. The role of TDP-43 in neurodegeneration has been actively studied since identification as a major component of the ubiquitinated inclusions seen in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). TDP-43 pathology has also been identified in several other neurodegenerative diseases. These disorders are collectively referred to as TDP-43 proteinopathies. The identification of rare TDP-43 mutations in sporadic and familial forms of ALS and FTLD suggests TDP-43 plays an important pathogenic role, rather than merely being a marker of the disease.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Corpos de Inclusão/metabolismo , Proteínas de Ligação a RNA/metabolismo , Proteinopatias TDP-43/metabolismo , Animais , Proteínas de Ligação a DNA/genética , Progressão da Doença , Desenvolvimento Embrionário , Humanos , Corpos de Inclusão/patologia , Mutação/genética , Processamento Pós-Transcricional do RNA , Splicing de RNA , Proteínas de Ligação a RNA/genética , Proteinopatias TDP-43/genética , Proteinopatias TDP-43/patologia , Proteinopatias TDP-43/fisiopatologia , Ativação Transcricional
17.
Int J Biochem Cell Biol ; 42(9): 1408-11, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20541619

RESUMO

The fused in sarcoma/translocated in liposarcoma (FUS/TLS) gene was initially identified as a component of a fusion pro-oncogene resulting from a chromosomal translocation seen in liposarcomas. FUS/TLS belongs to a sub-family of RNA binding proteins, encoding an N-terminal serine-tyrosine-glycine-glutamine (SYGQ) region, an RNA recognition motif (RRM) flanked by glycine rich (G-rich) regions, a cysteine(2)/cysteine(2) zinc finger motif and multiple RGG repeats. The FUS/TLS protein interacts with RNA, single stranded DNA and double stranded DNA, and is involved in unique functions in mRNA processing and transport, transcriptional regulation and maintenance of genomic stability. Recently, several mutations in this gene have been found in amyotrophic lateral sclerosis (ALS) patients. The mutant forms of FUS/TLS exhibit similar pathology to other ALS causative genes, including aberrant cytoplasmic inclusions and an increased FUS/TLS cytoplasmic to nuclear ratio. The FUS/TLS mutations identified in ALS patients suggests that altered RNA metabolism may play a role in ALS pathogenesis.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Lipossarcoma/fisiopatologia , Proteína FUS de Ligação a RNA/metabolismo , Proteínas de Ligação a RNA/metabolismo , Sarcoma/fisiopatologia , Esclerose Amiotrófica Lateral/genética , Esclerose Amiotrófica Lateral/metabolismo , Animais , Proteínas de Ligação a DNA/genética , Humanos , Modelos Biológicos , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/metabolismo , Proteína FUS de Ligação a RNA/genética , Proteínas de Ligação a RNA/genética
18.
J Neurol Neurosurg Psychiatry ; 81(6): 639-45, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19965854

RESUMO

OBJECTIVE: FUS gene mutations were recently identified in familial amyotrophic lateral sclerosis (ALS). The present studies sought to define the clinical, post-mortem and neurophysiological phenotypes in ALS families with FUS mutations and to determine the frequency of FUS mutations in familial and sporadic ALS. METHODS: FUS was screened for mutations in familial and sporadic ALS cases. Clinical, post-mortem and neurophysiological features of large families with FUS mutations are described. RESULTS AND CONCLUSIONS: FUS mutations were evident in 3.2% (4/124) of familial ALS, representing the second most common gene abnormality to be described in familial ALS after SOD1. No mutations were present in 247 sporadic ALS cases. The clinical presentation in 49 affected patients was consistent with a predominantly lower motor neuron disorder, supported by post-mortem findings. Upper motor neuron involvement varied, with Wallerian degeneration of corticospinal tracts present in one post-mortem case but absent in a second case from the same family. Features of cortical hyperexcitability demonstrated upper motor neuron involvement consistent with other forms of familial and sporadic ALS. One case presented with frontotemporal dementia (FTD) indicating that this may be a rare presenting feature in families with FUS mutation. Ubiquitin-positive cytoplasmic skein-like inclusions were present in lower motor neurons, but in contrast to sporadic ALS, no TDP-43 pathology was evident. Mutation-specific clinical features were identified. Patients with a R521C mutation were significantly more likely to develop disease at a younger age, and dropped-head syndrome was a frequent feature. Reduced disease penetrance was evident among most affected families.


Assuntos
Esclerose Amiotrófica Lateral , Encéfalo/patologia , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Proteínas de Ligação a DNA/genética , Mutação Puntual/genética , Proteína FUS de Ligação a RNA/genética , Adulto , Idoso , Esclerose Amiotrófica Lateral/epidemiologia , Esclerose Amiotrófica Lateral/genética , Esclerose Amiotrófica Lateral/patologia , Análise Mutacional de DNA/métodos , Complexo Dinactina , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Feminino , Testes Genéticos , Humanos , Masculino , Proteínas Associadas aos Microtúbulos/genética , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Testes Neuropsicológicos , RNA Mensageiro/genética , Ribonuclease Pancreático/genética , Índice de Gravidade de Doença , Superóxido Dismutase/genética , Superóxido Dismutase-1 , Proteínas de Transporte Vesicular/genética , Adulto Jovem
20.
Pediatr Radiol ; 39(7): 677-84, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19308368

RESUMO

BACKGROUND: Injuries related to all-terrain vehicle (ATV) use by children have increased in recent years, and the pattern of these injuries is not well known among radiologists. OBJECTIVE: Our purpose was to identify different radiologically diagnosed injuries in children suffering ATV-related trauma and determine associations among various injuries as well as between injuries and outcome. MATERIALS AND METHODS: The study included 512 consecutive children suffering from ATV injuries treated at a tertiary care pediatric hospital. All imaging studies were reviewed and correlated with injury frequency and outcome using multivariate analysis. RESULTS: Head injuries occurred in 244 children (48%) and in five of six deaths. Calvarial skull fractures occurred in 104 children and were associated with brain, subdural and epidural injuries. Brain and orbit injuries were associated with long-term disability. A total of 227 extremity fractures were present in 172 children (34%). The femur was the most commonly fractured bone. Nine children had partial foot amputations. Multiorgan injuries occurred in nearly half of the 97 children with torso injuries. Determinants for long-term disability or death were head injuries (odds ratio 3.4) and extremity fractures (odds ratio 3.3). CONCLUSION: Head and extremity injuries are the two most common injuries in children suffering ATV injuries and are associated with long-term disability. ATV use by children is dangerous and is a significant threat to child safety.


Assuntos
Acidentes de Trânsito/estatística & dados numéricos , Veículos Off-Road/estatística & dados numéricos , Ferimentos e Lesões/diagnóstico por imagem , Ferimentos e Lesões/epidemiologia , Arkansas/epidemiologia , Criança , Feminino , Humanos , Masculino , Prevalência , Radiografia , Medição de Risco , Fatores de Risco
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