RESUMO
OBJECTIVES: To assess the incidence of myocardial ischemia in meningococcus-induced purpura fulminans in pediatric patients, to compare troponin I (cTnI) levels with changes in electrocardiogram (ECG) and to evaluate whether cTnI is related to myocardial function and contractility, to severe acquired anticoagulant deficiency and to the severity of disease. METHODS: Twenty-two patients with acute meningococcemia, supported with inotropes or vasoactive agents, were studied, Blood samples for the determination of serum cTnI and conventional myocardial ischemia and coagulopathy markers were drawn daily. Measurements of cardiac index (CI), ejection (EF) and shortening fractions (SF) and ECGs were performed daily. RESULTS: The Leclerc score, the Neisseria sepsis index (NESI) and the pediatric risk of mortality (PRISM) score predicted a mean mortality rate of 34%, 27% and 23%, respectively. Four patients died (18%). Five patients (23 %) presented with myocardial ischemia. Their ECG ischemic changes were associated with pathologically high cTnI levels (1.93 +/- 0.13 vs 0.18 +/- 0.08 ng/ml, p < 0.001 for patients with or without ischemic changes) and depressed myocardial contractility (mean difference +/- SE -14 +/- 5%, p = 0.01, for the EF and -7.4 +/- 3, p < 0.02, for the SF). High cTnI values were significantly correlated to low protein C (PC) (p < 0.0001), factor VIII (p < 0.04) and antithrombin III (AIII, p = 0.01) levels, but not to the PRISM, Leclerc or the NESI scores. Means of AIII, VII, and especially of VIII, and PC, were significantly lower in ischemic than in non-ischemic patients, although severity scoring systems and inotropic support did not differ between the two groups. Survivors tended to significantly higher PC (p < 0.01) and factor VIII levels (p = 0.001) than non-survivors and, also, to lower levels of cTnI (p = 0.05) and CPK-MB (p < 0.05), while in meningococcal shock. CONCLUSIONS: The incidence of myocardial ischemia is increased in acute meningococcemia in pediatric patients and correlates with myocardial dysfunction. High cTnI is associated with severe coagulopathy, but not with clinical prognostic scores or inotropic support. Early recognition of myocardial injury, myocardial support and early replacement therapy with PC, AIII, factor VIII or fibrinogen might improve outcome in acute meningococcemia in children.
Assuntos
Hemodinâmica , Vasculite por IgA/etiologia , Meningite Meningocócica/complicações , Isquemia Miocárdica/sangue , Troponina I/sangue , Fatores de Coagulação Sanguínea , Cardiotônicos/uso terapêutico , Pré-Escolar , Dobutamina/uso terapêutico , Eletrocardiografia , Feminino , Humanos , Incidência , Lactente , Unidades de Terapia Intensiva Pediátrica , Masculino , Meningite Meningocócica/tratamento farmacológico , Meningite Meningocócica/mortalidade , Isquemia Miocárdica/complicações , Isquemia Miocárdica/epidemiologia , Norepinefrina/uso terapêutico , Prognóstico , Índice de Gravidade de DoençaRESUMO
We report a case of Yersinia enterocolitica sepsis syndrome and the acute respiratory distress syndrome in a chronically transfused adolescent with beta-thalassemia. This manifestation of serious Y. enterocolitica infection has not previously been reported. Dyspnea, hypoxia, and fever were the principal features of the clinical presentation. The acute onset of respiratory symptoms occurred after appendectomy. Chest radiographs revealed frontal bilateral infiltrates and alveolar consolidation to three quadrants. Y. enterocolitica was identified from blood and intraoperative appendix cultures. Although there was no need for mechanical ventilation, a remarkable persistence of clinical and X-ray findings was noted. Therapy with high levels of oxygen, and intravenous amikacin and piperacillin/tazobactam led to a favorable outcome.
Assuntos
Síndrome do Desconforto Respiratório/etiologia , Yersiniose/complicações , Yersinia enterocolitica/isolamento & purificação , Talassemia beta/complicações , Adolescente , Antibacterianos/uso terapêutico , Apendicectomia , Feminino , Humanos , Complicações Pós-Operatórias/microbiologia , Radiografia , Síndrome do Desconforto Respiratório/diagnóstico por imagem , Síndrome de Resposta Inflamatória Sistêmica/tratamento farmacológico , Síndrome de Resposta Inflamatória Sistêmica/microbiologia , Yersiniose/tratamento farmacológicoRESUMO
OBJECTIVE: To describe the daily practice of mechanical ventilation (MV), and secondarily, its outcome in pediatric intensive care units (PICUs). DESIGN: Prospective cohort of infants and children who received MV for at least 12 h. SETTING: Thirty-six medical surgical PICUs. PATIENTS: All consecutive patients admitted to the PICUs during 2-month period. MEASUREMENTS AND MAIN RESULTS: Of the 1893 patients admitted, 659 (35%) received MV for a median time of 4 days (25th percentile, 75%: 2, 6). Median of age was 13 months (25th percentile, 75%: 5, 48). Common indications for MV were acute respiratory failure (ARF) in 72% of the patients, altered mental status in 14% of the patients, and ARF on chronic pulmonary disease in 10% of the patients. Median length of stay in the PICUs was 8 days (25th percentile, 75%: 5, 13). Overall mortality rate in the PICUs was 15% (confidence interval 95%: 13-18) for the entire population, 50% (95% CI: 25-74) in patients who received MV because of acute respiratory distress syndrome, 24% (95% CI: 16-35) in patients who received MV for altered mental status and 16% (95% CI: 9-29) in patients who received MV for ARF on chronic pulmonary disease. CONCLUSION: One in every 3 patients admitted to the PICUs requires ventilatory support. The ARF was the most common reason for MV, and survival of unselected infants and children receiving MV for more than 12 h was 85%.
Assuntos
Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Respiração Artificial/métodos , Síndrome do Desconforto Respiratório/terapia , Pré-Escolar , Coleta de Dados , Feminino , Humanos , Lactente , Masculino , Respiração com Pressão Positiva , Estudos Prospectivos , Respiração Artificial/estatística & dados numéricos , Síndrome do Desconforto Respiratório/mortalidade , Resultado do TratamentoRESUMO
BACKGROUND: Advances in paediatric critical care have resulted in increased survival of critically ill patients, many of whom require long-term ventilation as a means of life support. AIM: To determine current trends in resource utilization, and problems in the care of acute and chronic paediatric intensive care patients. DESIGN: Open observational study. METHODS: We evaluated consecutive admissions (n = 1629) to a 10-bed paediatric intensive care unit (PICU) over a 5-year period. Three previously defined criteria for resource utilization were used: mean length of stay (LOS); length of mechanical ventilation (LOMV); and LOMV/LOS ratio. RESULTS: A total of 10 310 patient bed days and 5223 ventilator days were used. Mean LOS increased from 5.3 +/- 12 days in 1998 to 8.7 +/- 27 days in 2001 (p < 0.05). Although LOMV/LOS ratio (50.7%) was significantly correlated with Paediatric Risk of Mortality score (p < 0.0001), there was no significant change in mortality rate (12.6% vs. 12%). Patients hospitalized for >2 weeks (n = 320, 20%) used 55% of LOS and 57% of LOMV, in contrast to the 1298 (80%) hospitalized for <7 days, who used only 29% of LOS and 20% of LOMV. Patients hospitalized for >3 months (11, 0.7%) consumed 17% of LOS and 23% of LOMV. Five of these (45%) were eventually discharged home, two on ventilators. CONCLUSION: The increasing trend of occupation of PICU bed and ventilator days by critically ill children may be related to the increasing trend for hospitalization of chronic care patients. Severity scoring systems were predictive of resource consumption, but not of the overall trend in mortality rate.
Assuntos
Doença Aguda/terapia , Doença Crônica/terapia , Recursos em Saúde/estatística & dados numéricos , Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Doença Aguda/mortalidade , Adolescente , Análise de Variância , Criança , Pré-Escolar , Doença Crônica/mortalidade , Feminino , Grécia , Recursos em Saúde/tendências , Mortalidade Hospitalar , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Masculino , Estudos Prospectivos , Respiração Artificial/métodos , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: Anaemia is a common problem during pregnancy and the puerperium. This study was designed to determine the efficacy and safety of giving recombinant human erythropoietin (EPO) to anaemic women during the puerperium. METHOD: Thirty-seven women received a single dose of EPO (20 000 IU intravenously) immediately after delivery. A control population (n = 37) matched according to age and haemoglobin concentration was evaluated. All women received oral iron supplementation for 40 days after delivery. Haemoglobin concentrations were measured 4 and 40 days after delivery. Blood transfusions were given depending on clinical condition and haemoglobin level. RESULTS: Patients treated with EPO had a significantly higher mean haemoglobin concentration than control patients at days 4 and 40. No women in the EPO group required a transfusion, compared with six in the control group. No side-effects and fewer anaemia-related symptoms were observed during EPO treatment. CONCLUSION: EPO given at delivery is effective in decreasing the need for blood transfusion and the incidence of problems associated with anaemia during the puerperium.
Assuntos
Anemia/prevenção & controle , Parto Obstétrico , Eritropoetina/uso terapêutico , Adulto , Anemia/sangue , Feminino , Hemoglobinas/análise , Humanos , Ferro/uso terapêutico , Período Pós-Operatório , Período Pós-Parto , Gravidez , Proteínas Recombinantes , Resultado do TratamentoRESUMO
We measured the incidences of protein and fat depletions and the frequencies of acute and chronic protein-energy malnutrition during stress states in children and investigated the influence of early enteral feeding on nutrition indices and acute-phase proteins. Seventy-one, consecutively enrolled, critically ill children received early enteral feeding (energy intakes equal to 0.50, 1, 1.25, 1.5, and 1.5 of the predicted basal metabolic rates on days 1 through 5, respectively) through nasogastric tubes. On the first day of the study, 16.7% of the patients already were depleted of protein and 31% of fat stores. Overall, 16.9% were at risk for chronic protein-energy malnutrition and 21.1% for acute protein-energy malnutrition, whereas 4.2% and 5.6% already had chronic and acute, respectively protein-energy malnutrition. Only 22.7% of patients without protein deficiencies versus 37% of those at risk or already deficient developed multiple-organ system failure. Transferrin and prealbumin levels improved at the end of the period of early enteral feeding (187 +/- 6.6 versus 233 +/- 7 mg/dL, P < 0.0001; 15.1 +/- 2 versus 21.9 +/- 2.9 mg/dL, P < 0.0001; respectively); survivors had higher prealbumin levels than non-survivors (22.3 versus 15.5 mg/dL). With logistic regression analysis, only repleted energy, not anthropometric or nutrition indices, was independently associated with survival (P = 0.05). These results reinforce the observation that critically ill children are at risk for fat or protein depletion and development of malnutrition, which is associated with increased morbidity and mortality. We conclude that early enteral nutrition improves nutrition indices and outcomes.
Assuntos
Transtornos da Nutrição Infantil/terapia , Estado Terminal/terapia , Nutrição Enteral , Desnutrição Proteico-Calórica/terapia , Proteínas de Fase Aguda/análise , Adolescente , Antropometria , Biomarcadores , Proteína C-Reativa/análise , Criança , Transtornos da Nutrição Infantil/epidemiologia , Transtornos da Nutrição Infantil/mortalidade , Pré-Escolar , Estado Terminal/mortalidade , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica , Intubação Gastrointestinal , Masculino , Insuficiência de Múltiplos Órgãos , Países Baixos , Pré-Albumina/análise , Desnutrição Proteico-Calórica/mortalidade , Índice de Gravidade de Doença , Análise de Sobrevida , Transferrina/análise , Resultado do TratamentoRESUMO
A 10-year-old boy with myasthenia gravis had severe post-thymectomy myasthenic crisis necessitating reintroduction of mechanical ventilation on the 5th day after thymectomy. He did not respond to therapy with oral pyridostigmine, corticosteroids, or high-dose intravenous immunoglobulin. Finally, in addition to the usual supportive care, he was treated successfully with continuous intravenous infusion of neostigmine. Continuous infusion of neostigmine was used for the first time in post-thymectomy myasthenic crisis in a child to the best of our knowledge.
Assuntos
Inibidores da Colinesterase/administração & dosagem , Miastenia Gravis/tratamento farmacológico , Neostigmina/administração & dosagem , Timectomia/efeitos adversos , Criança , Humanos , Infusões Intravenosas , Masculino , Miastenia Gravis/cirurgia , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
A 2-year-old male developed generalized tonic-clonic seizure activity, tremor of limbs, muscle weakness, ataxia, and hypertonia after he swallowed 16 50-mg tablets of lamotrigine. His vital signs were normal, as were electroencephalography and laboratory investigation tests. The urine toxicologic screen revealed no other drugs. Treatment included midazolam and gastric lavage followed by activated charcoal and fluid loads. Symptoms resolved within 24 hours, and the child was discharged without any further complications. Serial blood samples revealed plasma lamotrigine levels at the high adult therapeutic range (3.8 mg/L) but a slow elimination rate. This is the first report of seizure activity reported in a patient receiving an overdose of lamotrigine. However, no evident concentration-effect-side-effect relationship has been established in children. Interestingly in this child, lamotrigine overdose presented exclusively with treatment-emergent neurologic abnormalities, sparing all other systems.
Assuntos
Anticonvulsivantes/intoxicação , Epilepsia Tônico-Clônica/induzido quimicamente , Triazinas/intoxicação , Anticonvulsivantes/sangue , Pré-Escolar , Overdose de Drogas , Epilepsia Tônico-Clônica/terapia , Lavagem Gástrica , Humanos , Lamotrigina , Masculino , Midazolam/uso terapêutico , Resultado do Tratamento , Triazinas/sangueRESUMO
(1) Respiratory distress and seizures developed in an 18-month-old boy following brief exposure to low-strength (17.6%) N,N-diethyl-m-toluamide (DEET). A review of the literature revealed 17 reports of DEET-induced encephalopathy in children. The objective of this study was to test the hypothesis that the potential toxicity of DEET is high and that available repellents containing DEET, irrespective of their strength, are not safe when applied to children's skin. (2) Although this is a case report, we used the features of published reports of DEET-induced encephalopathy in children to support the diagnosis, since the evidence that the child's illness was caused by DEET was circumstantial. In the following case analysis, clinical reports of children < 16 years old have been reviewed and analyzed in an effort to relate direct DEET toxicity to various clinical, demographic, and toxic compound exposure factors (Fisher's exacttest and logistic regression analysis). (3) DEET-induced encephalopathy in children (56% girls) followed not only ingestion or repeated and extensive application of repellents, but also a brief exposure to DEET (45%). Of those who reported a dermal exposure, 33% reported an exposure to a product containing DEET < 20%. Seizures, the most prominent symptom (72%), were significantly more frequent when DEET solutions were applied to the skin (P<0.01). Mortality (16.6%) did not correlate significantly with the concentration of the DEET liquid used, duration of skin exposure, pattern of use, age, or sex. (4) Data of this case analysis suggest that repellents containing DEET are not safe when applied to children's skin and should be avoided in children. Additionally, since the potential toxicity of DEET is high, less toxic preparations should be probably substituted for DEET-containing repellents, whenever possible.
Assuntos
Encefalopatias/induzido quimicamente , Encefalopatias/fisiopatologia , DEET/intoxicação , Repelentes de Insetos/intoxicação , Síndromes Neurotóxicas/fisiopatologia , Administração Tópica , DEET/administração & dosagem , Eletroencefalografia/efeitos dos fármacos , Humanos , Lactente , Repelentes de Insetos/administração & dosagem , Masculino , Convulsões/induzido quimicamenteRESUMO
A 13 year-old boy with Wilson's disease was treated with zinc sulphate per os for 4 years. This treatment, which was effective and non toxic, could substitute for penicillamine as long term treatment of Wilson's disease.
Assuntos
Degeneração Hepatolenticular/tratamento farmacológico , Zinco/uso terapêutico , Administração Oral , Adolescente , Cobre/metabolismo , Humanos , Masculino , Fatores de Tempo , Zinco/farmacologiaRESUMO
INTRODUCTION: Children with acute meningococcemia may have impaired myocardial function resulting in low cardiac output despite normal intravascular volume. Severe meningococcal infection has been associated with acute interstitial myocarditis, endocarditis, and pericarditis, but not with myocardial infarction. CASE: We present the case of a 10-year-old girl with positive family history for premature myocardial infarction who sustained an acute myocardial infarction temporally related to meningococcemia. DISCUSSION: This is the first pediatric case of non-Q wave acute myocardial infarction associated with purpura fulminans in meningococcemia. Similarly, the association of high troponin I levels and meningococcemia has not been described previously. Although, the patient's genetic predisposition for myocardial infarction might have been a potential contributing factor, there was no angiographic evidence of coronary artery disease in this patient. Thereby, other factors related to shock, endotoxin, microthrombi of meningococcemia, and their treatment might have been also contributing. We propose possible mechanisms for this rare but serious complication of meningococcemia and review the literature.
Assuntos
Bacteriemia/complicações , Infecções Meningocócicas/complicações , Infarto do Miocárdio/microbiologia , Doença Aguda , Bacteriemia/microbiologia , Criança , Eletrocardiografia , Feminino , Humanos , Vasculite por IgA/etiologia , Infecções Meningocócicas/sangue , Infarto do Miocárdio/sangue , Infarto do Miocárdio/genética , Infarto do Miocárdio/fisiopatologia , Troponina I/sangueRESUMO
A 6-year-old boy presented for surgery for phimosis. The anaesthetic technique included intravenous induction with thiopentone and neuromuscular blockade with cisatracurium. Severe persistent bronchospasm and central cyanosis followed the administration of these drugs. A continuous i.v. infusion of epinephrine at 0.2 microg. kg(-1) x min(-1) was necessary to break the severe refractory bronchial hyperresponsiveness. There was no previous exposure to anaesthetic drugs and no definite family history of allergy. Through increased serum eosinophil cationic protein, tryptase and histamine levels and IgE levels specific to cisatracurium, we demonstrated an IgE-mediated anaphylactic reaction to cisatracurium in the child's first exposure to this new neuromuscular blocking agent. Anaphylactic reactions to new anaesthetic drugs may be challenging to recognize and treat during general anaesthesia in children. The pathogenesis, diagnosis and management of life threatening persistent allergic reactions to intravenous anaesthetics are discussed.
Assuntos
Anafilaxia/induzido quimicamente , Anestésicos Intravenosos/efeitos adversos , Atracúrio/análogos & derivados , Atracúrio/efeitos adversos , Bloqueadores Neuromusculares/efeitos adversos , Ribonucleases , Tiopental/efeitos adversos , Agonistas Adrenérgicos/administração & dosagem , Agonistas Adrenérgicos/uso terapêutico , Anafilaxia/tratamento farmacológico , Anestésicos Intravenosos/administração & dosagem , Atracúrio/administração & dosagem , Proteínas Sanguíneas/análise , Hiper-Reatividade Brônquica/tratamento farmacológico , Espasmo Brônquico/induzido quimicamente , Espasmo Brônquico/tratamento farmacológico , Criança , Quimases , Cianose/induzido quimicamente , Proteínas Granulares de Eosinófilos , Epinefrina/administração & dosagem , Epinefrina/uso terapêutico , Histamina/sangue , Humanos , Imunoglobulina E/sangue , Mediadores da Inflamação/sangue , Masculino , Mastócitos/enzimologia , Bloqueio Neuromuscular , Bloqueadores Neuromusculares/administração & dosagem , Fimose/cirurgia , Serina Endopeptidases/sangue , Tiopental/administração & dosagem , TriptasesRESUMO
The objective was to determine stress related factors and nutritional indices affecting the nitrogen balance (NB) and the creatinine height index (CHI) in critically ill children on early enteral nutrition (EEN). Seventy-one consecutively enrolled critically ill children aged 2 to 204 months, requiring prolonged mechanical ventilation, were studied. All patients were on early intragastric nutrition (Nutrison Pediatric or Standard) from day 1 (energy intake equal to 1/2, 1, 5/4, 6/4 and 6/4 of the predicted basal metabolic rate on days 1-5, respectively). Nitrogen balance and CHI changes determined efficacy. Study patients had severe depletion of somatic protein status on stress day 1 (CHI <60%) but they reached the normal range of somatic protein status at the end of the EEN, on post-stress day 5 (CHI >80%, p <.004). On day 1, none of the patients had positive NB but after 5 days of EEN, 44 (62%) had positive NB and only 27 (38%) had negative NB (p <.0001). Multivariate stepwise regression analysis showed that only the difference of daily given-recommended dietary allowances protein and the total repleted energy were positively correlated (r(2) =.47, p <.001 and r(2) = 34, p =.003, respectively) and multiple organ system failure negatively correlated with the NB (r(2) = -.24, p <.03) on the 5th day of the EEN protocol. Our data suggest that achievement of positive protein and energy balance in relation to the basic metabolic rate using an aggressive EEN protocol improves NB during the acute phase of stress in 2/3 of critically ill children.
RESUMO
A case of acute spontaneous pneumomediastinum in a 13-year-old boy suffering from Hodgkin's disease and pulmonary fibrosis is reported. He was initially treated for Pneumocystis carinii but his respiratory function progressively deteriorated, and fibrosis secondary to bleomycin was suspected. The day before the admission to the Pediatric Intensive Care Unit the patient complained of anterior thoracic pain, and a chest x-ray revealed a left-sided small spontaneous pneumothorax and pneumomediastinum. Although air leak responded initially to conservative treatment, acute tension pneumomediastinum with cardiopulmonary decompensation recurred 6 days later, while the patient was on mechanical ventilation. Treatment with urgent evacuation of the accumulated air via subxiphoid drainage, using an old but ill-defined technique, resulted in complete resolution of pneumomediastinum and significant improvement of the hemodynamic condition.
Assuntos
Doença de Hodgkin/terapia , Enfisema Mediastínico/terapia , Fibrose Pulmonar/terapia , Doença Aguda , Adolescente , Doença de Hodgkin/complicações , Humanos , Masculino , Enfisema Mediastínico/etiologia , Fibrose Pulmonar/complicações , Respiração Artificial , Resultado do TratamentoRESUMO
The authors describe an intoxication by Atractylis gummifera in a 7-year old boy who drunk an extract made from the plant's root as traditional medicine. He was admitted to the Hospital 2 days after ingestion, in coma stage II, with epigastric pain, vomiting and general anxiety. Laboratory findings showed severe hepatocellular damage and acute renal failure. In spite of all treatment and therapeutic efforts, the boy died 8 days after admission. A postmortem histopathological study of the liver confirmed the panlobular hepatic necrosis and allowed the differential diagnosis of the intoxication from Reye syndrome.
Assuntos
Injúria Renal Aguda/induzido quimicamente , Extratos Vegetais/intoxicação , Criança , Coma/induzido quimicamente , Humanos , Fígado/patologia , Masculino , NecroseRESUMO
A familial occurrence of acute paraquat (PQ) poisoning is reported. The mother administered a PQ solution to their 3 children aged 8 y, 6 y and 15 mo and then ingested an unknown amount of the herbicide herself. In the absence of history or diagnostic signs, the poisoning was initially misdiagnosed as gastroenteritis. Thirty h after the ingestions, serum PQ concentrations of the children were 60, <6 and 25 ng/ml respectively. Hemoperfusion was performed on all patients, and 2 of the children also received plasmapheresis and erythropheresis. The 3 children recovered fully but the mother died. According to these patients' data, the extracorporeal techniques had little effect on PQ removal, and the decreases in serum PQ were related to its urinary excretion.
Assuntos
Gastroenterite/induzido quimicamente , Herbicidas/intoxicação , Paraquat/intoxicação , Suicídio , Adulto , Carvão Vegetal/uso terapêutico , Criança , Feminino , Gastroenterite/fisiopatologia , Gastroenterite/terapia , Herbicidas/sangue , Humanos , Lactente , Paraquat/sangue , PlasmafereseRESUMO
We report a successful outcome on an acute adenovirus myocarditis treated with a 24-hour high-dose intravenous immunoglobulin (24-HDIVIG) in a 4.5-year-old girl. A postviral etiology of acute myocarditis was assessed on the basis of the polymerase chain reaction technique. Among other early markers of cardiac injury, cardiac isoform of troponin-I (cTnI) was significantly correlated to the left ventricular ejection fraction (r = -0.86, p < 0.0001). Follow-up of cTnI, which might also be correlated to the short-term outcome, allows fast, easy, and noninvasive estimation of response to the aggressive treatment with 24-HDIVIG in acute adenovirus myocarditis in children.
Assuntos
Infecções por Adenoviridae/tratamento farmacológico , Imunoglobulinas Intravenosas/administração & dosagem , Miocardite/tratamento farmacológico , Miocardite/virologia , Troponina I/análise , Infecções por Adenoviridae/enzimologia , Infecções por Adenoviridae/fisiopatologia , Pré-Escolar , Feminino , Humanos , Miocardite/enzimologia , Miocardite/fisiopatologia , Reação em Cadeia da Polimerase , Isoformas de Proteínas , Função Ventricular EsquerdaRESUMO
The pathogenesis of venous thrombosis involves the interaction of genetic and environmental factors. In order to estimate the frequency of the factor V Leiden, the prothrombin G20210A, and the MTHFR C677T mutations in the Greek population, we analyzed 160 healthy Greek blood donors by PCR amplification and detected allele frequencies of 2.5%, 2.2%, and 35.3%, respectively. The allele frequencies were compared with reported frequencies of other populations of southern Europe. The identification of these common genetic risk factors for thrombosis should enable easy DNA diagnosis and carrier detection in a high proportion of cases and will contribute to a better understanding of the interaction of genetic and environmental risk factors.
Assuntos
Doadores de Sangue , Fator V/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Mutação Puntual , Protrombina/genética , Trombose Venosa/genética , Adulto , Alelos , Fator V/isolamento & purificação , Feminino , Frequência do Gene , Triagem de Portadores Genéticos , Grécia , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Pessoa de Meia-Idade , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/isolamento & purificação , Reação em Cadeia da Polimerase , Prevalência , Protrombina/isolamento & purificação , Fatores de Risco , Trombose Venosa/etiologiaRESUMO
Fetal hemoglobin (Hb F) and fetal cell (FC) levels in adults show considerable variation and are influenced by several genetic variants; the major determinants appear to be unlinked to the beta-globin gene cluster. Recently, a trans-acting locus controlling Hb F and FC production has been mapped to chromosome 6q23 in an Asian Indian kindred that includes individuals with heterocellular hereditary persistence of Hb F (HPFH) associated with beta thalassemia. We have extended the kindred by 57 members, bringing the total studied to 210, and have saturated the region with 26 additional markers. Linkage analysis showed tight linkage of the quantitative-trait locus (QTL) to the anonymous markers D6S976 (LOD score 11.3; recombination fraction .00) and D6S270 (LOD score 7.4; recombination fraction .00). Key recombination events now place this QTL within a 1-2-cM interval spanning approximately 1.5 Mb between D6S270 and D6S1626. Furthermore, haplotype analysis has led to a reevaluation of the genealogy and to the identification of additional relationships in the kindred.