Base de dados : MEDLINE
Pesquisa : C18.452.076.176.180 [Categoria DeCS]
Referências encontradas : 2928 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 293 ir para página                         

  1 / 2928 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29217198
[Au] Autor:Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
[Ad] Endereço:Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Tunisia; Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Tunisia. Electronic address: marwamaalej7@gmail.com.
[Ti] Título:Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
[So] Source:Biochem Biophys Res Commun;495(2):1730-1737, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.
[Mh] Termos MeSH primário: Encefalomiopatias Mitocondriais/enzimologia
Encefalomiopatias Mitocondriais/genética
Mutação de Sentido Incorreto
Succinato-CoA Ligases/deficiência
Succinato-CoA Ligases/genética
[Mh] Termos MeSH secundário: Acidose Láctica/genética
Erros Inatos do Metabolismo dos Aminoácidos/genética
Substituição de Aminoácidos
Pré-Escolar
Consanguinidade
DNA Mitocondrial/genética
Estabilidade Enzimática/genética
Feminino
Dosagem de Genes
Perda Auditiva/genética
Homozigoto
Seres Humanos
Lactente
Masculino
Hipotonia Muscular/genética
Succinato-CoA Ligases/química
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 6.2.1.- (SUCLG1 protein, human); EC 6.2.1.- (Succinate-CoA Ligases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  2 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
[PMID]:29189867
[Au] Autor:Quintana F; Pezzani MJ; Orozco R; Dreyse J; Soto L; Regueira T
[Ad] Endereço:Facultad de Medicina, Universidad Finis Terrae, Santiago, Chile.
[Ti] Título:[Metformin-associated lactic acidosis. Report of one case].
[Ti] Título:Acidosis láctica asociada a metformina. Caso clínico..
[So] Source:Rev Med Chil;145(8):1072-1075, 2017 Aug.
[Is] ISSN:0717-6163
[Cp] País de publicação:Chile
[La] Idioma:spa
[Ab] Resumo:Metformin-associated lactic acidosis is a severe and infrequent adverse event. Early diagnosis is essential to start an early treatment, which often has favorable results. We report a 56 years old non-insulin-requiring type 2 diabetic female who developed a severe metabolic acidosis associated with metformin in relation to an acute renal failure secondary to infectious diarrhea. Early treatment with bicarbonate and continuous hemofiltration allowed a quick improvement of the patient. Metformin-associated lactic acidosis has an elevated mortality (50-80%) and has a specific and effective treatment. Therefore, the condition must be born in mind.
[Mh] Termos MeSH primário: Acidose Láctica/induzido quimicamente
Hipoglicemiantes/efeitos adversos
Metformina/efeitos adversos
[Mh] Termos MeSH secundário: Acidose Láctica/terapia
Bicarbonatos/uso terapêutico
Diabetes Mellitus Tipo 2/tratamento farmacológico
Feminino
Hemofiltração/métodos
Seres Humanos
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bicarbonates); 0 (Hypoglycemic Agents); 9100L32L2N (Metformin)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171218
[Lr] Data última revisão:
171218
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE


  3 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:28866978
[Au] Autor:Biesenbach P; Ghanpur R; Mårtensson J; Crisman M; Lindstrom S; Hilton A; Matalanis G; Bellomo R
[Ad] Endereço:Austin Hospital, Melbourne, VIC, Australia. rinaldo.bellomo@austin.org.au.
[Ti] Título:Peripheral venoarterial extracorporeal membrane oxygenation for severe hyperlactataemia after cardiac surgery: a pilot study.
[So] Source:Crit Care Resusc;19(3):274-279, 2017 Sep.
[Is] ISSN:1441-2772
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Severe hyperlactataemia in patients after cardiac surgery is associated with poor prognosis and implies possible splanchnic hypoperfusion. Peripheral venoarterial extracorporeal membrane oxygenation (splanchnic ECMO) may be more effective at reducing lactic acidosis for these patients. OBJECTIVE: To investigate whether splanchnic ECMO attenuates hyperlactataemia and liver enzyme release in these patients, despite them having a cardiac index > 2 L/min/m and a mixed venous oxygen saturation > 55%. DESIGN AND PARTICIPANTS: Retrospective matched case- control study of patients treated with splanchnic ECMO for hyperlactataemia. Seven patients who had had cardiac surgery were treated with splanchnic ECMO compared with seven matched control patients. RESULTS: We observed a mean decrease in lactate levels from 9.9 mmol/L (SD, 2.9 mmol/L) to 1.4 mmol/L (SD, 0.6 mmol/L) in patients receiving 48 hours of splanchnic ECMO, compared with a mean of 10.4 mmol/L (SD, 2.8 mmol/L) to 4.4 mmol/L (SD, 5 mmol/L) during 48 hours in control patients (P < 0.0001). Normalisation of lactate levels (to < 2 mmol/L) was achieved within a mean of 16.3 hours (SD, 14.6 hours) with splanchnic ECMO, compared with 38.3 hours (SD, 23.8 hours) in the control group (P = 0.029). The median increase in alanine aminotransferase level with splanchnic ECMO was 68% (range, -84% to 2015%) compared with 158% (range: 0%-6024%) (not significant) in control patients. CONCLUSION: In a selected cohort of patients who had had cardiac surgery with severe post-operative hyperlactataemia, despite an acceptable cardiac index and a mixed venous oxygen saturation, splanchnic ECMO appeared to reduce overall lactate levels and time to normalisation of lactataemia.
[Mh] Termos MeSH primário: Acidose Láctica/terapia
Alanina Transaminase/sangue
Procedimentos Cirúrgicos Cardíacos
Hiperlactatemia/terapia
Ácido Láctico/sangue
Complicações Pós-Operatórias/terapia
[Mh] Termos MeSH secundário: Acidose Láctica/sangue
Idoso
Idoso de 80 Anos ou mais
Estudos de Casos e Controles
Oxigenação por Membrana Extracorpórea
Feminino
Seres Humanos
Hiperlactatemia/sangue
Masculino
Projetos Piloto
Complicações Pós-Operatórias/sangue
Estudos Retrospectivos
Circulação Esplâncnica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
33X04XA5AT (Lactic Acid); EC 2.6.1.2 (Alanine Transaminase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170905
[St] Status:MEDLINE


  4 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28640087
[Au] Autor:Jung TY; Jun DW; Lee KN; Lee HL; Lee OY; Yoon BC; Choi HS
[Ad] Endereço:Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Republic of Korea.
[Ti] Título:Fatal lactic acidosis in hepatitis B virus-associated decompensated cirrhosis treated with tenofovir: A case report.
[So] Source:Medicine (Baltimore);96(25):e7133, 2017 Jun.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Recently tenofovir disoproxil fumarate (TDF) has been widely used as a first-line therapy for chronic hepatitis B (CHB) infection. Although TDF demonstrates successful viral suppression, the possibility of renal failure and lactic acidosis has been proposed with TDF administration, especially in human immunodeficiency virus co-infected patients. However, TDF induced lactic acidosis has never been reported in CHB mono-infected patients. PATIENT CONCERNS: A 59-year-old man received TDF for hepatitis B associated with cirrhosis. After ten days of TDF administration, nausea, vomiting and abdominal pain developed. High anion gap acidosis with elevated lactate level (pH 7.341, pCO2 29.7 mmHg, HCO3- 15.6mmHg, lactate 3.2mmol/L, anion gap 15.4 mEq/L) was developed. DIAGNOSIS: With no infection, normal diagnostic paracentesis, and urinalysis together with high anion gap and increased blood lactate levels suggested lactic acidosis. INTERVENTIONS: TDF was stopped, and haemodialysis was performed to control lactic acidosis. OUTCOMES: Although stopping TDF instantly and treating lactic acidosis using hemodialysis, the patient died. LESSONS: Although, Fatal lactic acidosis is very rare in TDF patient, however, decompensated cirrhotic patients should be closely observed to keep the possibility of lactic acidosis in mind.
[Mh] Termos MeSH primário: Acidose Láctica/induzido quimicamente
Antivirais/toxicidade
Hepatite B/tratamento farmacológico
Cirrose Hepática/tratamento farmacológico
Tenofovir/toxicidade
[Mh] Termos MeSH secundário: Acidose Láctica/terapia
Antivirais/uso terapêutico
Evolução Fatal
Hepatite B/complicações
Seres Humanos
Cirrose Hepática/complicações
Masculino
Meia-Idade
Diálise Renal
Tenofovir/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antiviral Agents); 99YXE507IL (Tenofovir)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170623
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007133


  5 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28606929
[Au] Autor:Oyaizu-Toramaru T; Suhara T; Hayakawa N; Nakamura T; Kubo A; Minamishima S; Yamaguchi K; Hishiki T; Morisaki H; Suematsu M; Minamishima YA
[Ad] Endereço:Department of Biochemistry, Keio University School of Medicine, Tokyo, Japan.
[Ti] Título:Targeting Oxygen-Sensing Prolyl Hydroxylase for Metformin-Associated Lactic Acidosis Treatment.
[So] Source:Mol Cell Biol;37(16), 2017 Aug 15.
[Is] ISSN:1098-5549
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Metformin is one of the most widely used therapeutics for type 2 diabetes mellitus and also has anticancer and antiaging properties. However, it is known to induce metformin-associated lactic acidosis (MALA), a severe medical condition with poor prognosis, especially in individuals with renal dysfunction. Inhibition of prolyl hydroxylase (PHD) is known to activate the transcription factor hypoxia-inducible factor (HIF) that increases lactate efflux as a result of enhanced glycolysis, but it also enhances gluconeogenesis from lactate in the liver that contributes to reducing circulating lactate levels. Here, we investigated the outcome of pharmaceutical inhibition of PHD in mice with MALA induced through the administration of metformin and an intraperitoneal injection of lactic acid. We found that the PHD inhibitors significantly increased the expression levels of genes involved in gluconeogenesis in the liver and the kidney and significantly improved the survival of mice with MALA. Furthermore, the PHD inhibitor also improved the rate of survival of MALA induced in mice with chronic kidney disease (CKD). Thus, PHD represents a new therapeutic target for MALA, which is a critical complication of metformin therapy.
[Mh] Termos MeSH primário: Acidose Láctica/induzido quimicamente
Acidose Láctica/enzimologia
Metformina/efeitos adversos
Oxigênio/metabolismo
Pró-Colágeno-Prolina Dioxigenase/metabolismo
[Mh] Termos MeSH secundário: Acidose Láctica/patologia
Adenina
Animais
Modelos Animais de Doenças
Inibidores Enzimáticos/farmacologia
Gluconeogênese/efeitos dos fármacos
Rim/efeitos dos fármacos
Rim/metabolismo
Fígado/efeitos dos fármacos
Fígado/metabolismo
Masculino
Camundongos Endogâmicos C57BL
Pró-Colágeno-Prolina Dioxigenase/antagonistas & inibidores
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Insuficiência Renal Crônica/genética
Insuficiência Renal Crônica/patologia
Análise de Sobrevida
Regulação para Cima/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Enzyme Inhibitors); 0 (RNA, Messenger); 9100L32L2N (Metformin); EC 1.14.11.2 (Procollagen-Proline Dioxygenase); JAC85A2161 (Adenine); S88TT14065 (Oxygen)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170614
[St] Status:MEDLINE


  6 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28539246
[Au] Autor:Dean RK; Subedi R; Gill D; Nat A
[Ad] Endereço:Department of Medicine, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, United States. Electronic address: deanr@upstate.edu.
[Ti] Título:Consideration of alternative causes of lactic acidosis: Thiamine deficiency in malignancy.
[So] Source:Am J Emerg Med;35(8):1214.e5-1214.e6, 2017 Aug.
[Is] ISSN:1532-8171
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lactic acidosis is a common metabolic acidosis characterized by increased serum lactate and is usually associated with a decreased blood pH. Lactic acidosis has many different causes but has been differentiated into type A, hypoxic causes, and type B, non-hypoxic causes. Tissue hypoxia, type A, is the most common cause, usually secondary to processes such as sepsis and multi-organ failure. Type A must be differentiated from type B in the correct clinical setting as treatments are vastly different. Type B causes may include drug side-effects, toxins, enzymatic defects, inherited or acquired, any of which may lead to overproduction or underutilization of lactate. However, as most clinicians are more familiar, and likely more initially concerned with hypoxic etiologies, evaluation is directed toward finding the source of hypoperfusion or hypoxia, and thus generally leading to a delay in discovering a type B cause (or mixed type A and type B). Here we describe a case of lactic acidosis in the setting of thiamine deficiency thought to be secondary to advanced lung cancer. The purpose of this paper is to bring awareness to the clinician to consider other causes of lactic acidosis when evaluating a patient.
[Mh] Termos MeSH primário: Acidose Láctica/diagnóstico
Neoplasias Ósseas/tratamento farmacológico
Neoplasias Encefálicas/tratamento farmacológico
Carcinoma de Pequenas Células do Pulmão/tratamento farmacológico
Deficiência de Tiamina/complicações
Tiamina/uso terapêutico
Complexo Vitamínico B/uso terapêutico
[Mh] Termos MeSH secundário: Acidose Láctica/etiologia
Acidose Láctica/terapia
Idoso
Protocolos de Quimioterapia Combinada Antineoplásica
Neoplasias Ósseas/secundário
Neoplasias Encefálicas/secundário
Carboplatina/administração & dosagem
Confusão
Etoposídeo/administração & dosagem
Seres Humanos
Masculino
Agitação Psicomotora
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
12001-76-2 (Vitamin B Complex); 6PLQ3CP4P3 (Etoposide); BG3F62OND5 (Carboplatin); X66NSO3N35 (Thiamine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE


  7 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28538105
[Au] Autor:Santini A; Ronchi D; Garbellini M; Piga D; Protti A
[Ad] Endereço:a Dipartimento di Anestesia, Rianimazione ed Emergenza-Urgenza , Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico , Milan , Italy.
[Ti] Título:Linezolid-induced lactic acidosis: the thin line between bacterial and mitochondrial ribosomes.
[So] Source:Expert Opin Drug Saf;16(7):833-843, 2017 Jul.
[Is] ISSN:1744-764X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Linezolid inhibits bacterial growth by targeting bacterial ribosomes and by interfering with bacterial protein synthesis. Lactic acidosis is a rare, but potentially lethal, side effect of linezolid. Areas covered: The pathogenesis of linezolid-induced lactic acidosis is reviewed with special emphasis on aspects relevant to the recognition, prevention and treatment of the syndrome. Expert opinion: Linezolid-induced lactic acidosis reflects the untoward interaction between the drug and mitochondrial ribosomes. The inhibition of mitochondrial protein synthesis diminishes the respiratory chain enzyme content and thus limits aerobic energy production. As a result, anaerobic glycolysis and lactate generation accelerate independently from tissue hypoxia. In the absence of any confirmatory test, linezolid-induced lactic acidosis should be suspected only after exclusion of other, more common, causes of lactic acidosis such as hypoxemia, anemia or low cardiac output. Normal-to-high whole-body oxygen delivery, high venous oxygen saturation and lack of response to interventions that effectively increase tissue oxygen provision all suggest a primary defect in oxygen use at the mitochondrial level. During prolonged therapy with linezolid, blood drug and lactate levels should be regularly monitored. The current standard-of-care treatment of linezolid-induced lactic acidosis consists of drug withdrawal to reverse mitochondrial intoxication and intercurrent life support.
[Mh] Termos MeSH primário: Acidose Láctica/induzido quimicamente
Antibacterianos/administração & dosagem
Linezolida/administração & dosagem
[Mh] Termos MeSH secundário: Animais
Antibacterianos/efeitos adversos
Antibacterianos/farmacologia
Bactérias/efeitos dos fármacos
Glicólise/efeitos dos fármacos
Seres Humanos
Linezolida/efeitos adversos
Linezolida/farmacologia
Ribossomos Mitocondriais/efeitos dos fármacos
Oxigênio/metabolismo
Ribossomos/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Anti-Bacterial Agents); ISQ9I6J12J (Linezolid); S88TT14065 (Oxygen)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170525
[St] Status:MEDLINE
[do] DOI:10.1080/14740338.2017.1335305


  8 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28445665
[Au] Autor:Reda HM; Copen WA; Karaa A; Oakley DH
[Ad] Endereço:From the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Massachusetts General Hospital, and the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Harvard Medical School - both in Boston.
[Ti] Título:Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline.
[So] Source:N Engl J Med;376(17):1668-1678, 2017 04 27.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Encéfalo/patologia
Síndrome MELAS/diagnóstico
[Mh] Termos MeSH secundário: Acidose Láctica
Adulto
Disfunção Cognitiva/etiologia
DNA Mitocondrial/análise
Diagnóstico Diferencial
Evolução Fatal
Genes Mitocondriais
Perda Auditiva Neurossensorial/etiologia
Seres Humanos
Síndrome MELAS/complicações
Síndrome MELAS/genética
Síndrome MELAS/patologia
Imagem por Ressonância Magnética
Masculino
Transtornos de Enxaqueca/etiologia
Músculo Esquelético/patologia
Mutação
Convulsões/etiologia
Acidente Vascular Cerebral/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; CLINICAL CONFERENCE; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170523
[Lr] Data última revisão:
170523
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMcpc1616022


  9 / 2928 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28441439
[Au] Autor:Vali P; Chandrasekharan P; Rawat M; Gugino S; Koenigsknecht C; Helman J; Mathew B; Berkelhamer S; Nair J; Wyckoff M; Lakshminrusimha S
[Ad] Endereço:Pediatrics, UC Davis, Sacramento, California, United States of America.
[Ti] Título:Hemodynamics and gas exchange during chest compressions in neonatal resuscitation.
[So] Source:PLoS One;12(4):e0176478, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Current knowledge about pulmonary/systemic hemodynamics and gas exchange during neonatal resuscitation in a model of transitioning fetal circulation with fetal shunts and fluid-filled alveoli is limited. Using a fetal lamb asphyxia model, we sought to determine whether hemodynamic or gas-exchange parameters predicted successful return of spontaneous circulation (ROSC). METHODS: The umbilical cord was occluded in 22 lambs to induce asphyxial cardiac arrest. Following five minutes of asystole, resuscitation as per AHA-Neonatal Resuscitation Program guidelines was initiated. Hemodynamic parameters and serial arterial blood gases were assessed during resuscitation. RESULTS: ROSC occurred in 18 lambs (82%) at a median (IQR) time of 120 (105-180) seconds. There were no differences in hemodynamic parameters at baseline and at any given time point during resuscitation between the lambs that achieved ROSC and those that did not. Blood gases at arrest prior to resuscitation were comparable between groups. However, lambs that achieved ROSC had lower PaO2, higher PaCO2, and lower lactate during resuscitation. Increase in diastolic blood pressures induced by epinephrine in lambs that achieved ROSC (11 ±4 mmHg) did not differ from those that were not resuscitated (10 ±6 mmHg). Low diastolic blood pressures were adequate to achieve ROSC. CONCLUSIONS: Hemodynamic parameters in a neonatal lamb asphyxia model with transitioning circulation did not predict success of ROSC. Lactic acidosis, higher PaO2 and lower PaCO2 observed in the lambs that did not achieve ROSC may represent a state of inadequate tissue perfusion and/or mitochondrial dysfunction.
[Mh] Termos MeSH primário: Asfixia Neonatal/fisiopatologia
Reanimação Cardiopulmonar/métodos
Parada Cardíaca/fisiopatologia
Hemodinâmica/fisiologia
[Mh] Termos MeSH secundário: Acidose Láctica/fisiopatologia
Animais
Animais Recém-Nascidos
Asfixia Neonatal/terapia
Gasometria
Pressão Sanguínea/fisiologia
Modelos Animais de Doenças
Feminino
Parada Cardíaca/terapia
Masculino
Ovinos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170426
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0176478


  10 / 2928 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28395030
[Au] Autor:Sommerville EW; Ng YS; Alston CL; Dallabona C; Gilberti M; He L; Knowles C; Chin SL; Schaefer AM; Falkous G; Murdoch D; Longman C; de Visser M; Bindoff LA; Rawles JM; Dean JCS; Petty RK; Farrugia ME; Haack TB; Prokisch H; McFarland R; Turnbull DM; Donnini C; Taylor RW; Gorman GS
[Ad] Endereço:Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
[Ti] Título:Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
[So] Source:JAMA Neurol;74(6):686-694, 2017 Jun 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant. Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature. Six adults in a well-defined mitochondrial disease cohort and 11 additional cases described in the literature were identified with YARS2 variants between January 1, 2000, and January 31, 2015. Main Outcome and Measures: The spectrum of clinical features and disease progression in unreported and reported patients with pathogenic YARS2 variants. Results: Seventeen patients (median [interquartile range] age at onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified. Fifteen individuals (88%) exhibited an elevated blood lactate level accompanied by generalized myopathy; only 12 patients (71%) manifested with sideroblastic anemia. Hypertrophic cardiomyopathy (9 [53%]) and respiratory insufficiency (8 [47%]) were also prominent clinical features. Central nervous system involvement was rare. Muscle studies showed global cytochrome-c oxidase deficiency in all patients tested and severe, combined respiratory chain complex activity deficiencies. Microsatellite genotyping demonstrated a common founder effect shared between 3 Scottish patients with a p.Leu392Ser variant. Immunoblotting from fibroblasts and myoblasts of an affected Scottish patient showed normal YARS2 protein levels and mild respiratory chain complex defects. Yeast modeling of novel missense YARS2 variants closely correlated with the severity of clinical phenotypes. Conclusions and Relevance: The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation. Testing for pathogenic YARS2 variants should be considered in patients presenting with mitochondrial myopathy, characterized by exercise intolerance and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity. Regular surveillance and early treatment for cardiomyopathy and respiratory muscle weakness is advocated because early treatment may mitigate the significant morbidity and mortality associated with this genetic disorder.
[Mh] Termos MeSH primário: Acidose Láctica/genética
Anemia Sideroblástica/genética
Cardiomiopatias/genética
Miopatias Mitocondriais/genética
Debilidade Muscular/genética
Insuficiência Respiratória/genética
Tirosina-tRNA Ligase/genética
[Mh] Termos MeSH secundário: Acidose Láctica/etnologia
Acidose Láctica/etiologia
Adulto
Idoso
Anemia Sideroblástica/etnologia
Anemia Sideroblástica/etiologia
Cardiomiopatias/etnologia
Cardiomiopatias/etiologia
Inglaterra/etnologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Miopatias Mitocondriais/complicações
Miopatias Mitocondriais/etnologia
Debilidade Muscular/etnologia
Debilidade Muscular/etiologia
Mutação
Prognóstico
Insuficiência Respiratória/etnologia
Insuficiência Respiratória/etiologia
Escócia/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
EC 6.1.1.1 (Tyrosine-tRNA Ligase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2016.4357



página 1 de 293 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde