RESUMEN
A prospective study was conducted to determine the outcome of pregnancies with 1st trimester nuchal translucency measurement of ≥ 6.5 mm. The risk of fetal abnormalities increases with enlarging nuchal translucency, being around 45% with a measurement of ≥ 6.5 mm. A total of 27,144 women with singleton pregnancies participated in the combined Down syndrome screening within the public healthcare system in Northern Finland. The study period was 1 May 2002 to 31 May 2009. The nuchal translucency measurement was ≥ 6.5 mm in 16 cases (0.06%). Pregnancy outcome was normal in one case (6.3%). The risk of abnormality was higher in our study than reported in the literature. According to our study, immediate diagnostic tests should be offered after an nuchal translucency measurement of ≥ 6.5 mm. We should also consider analysis of fetal micro-deletions associated with certain syndromes.
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Anomalías Congénitas/diagnóstico por imagen , Medida de Translucencia Nucal , Resultado del Embarazo , Adulto , Femenino , Humanos , Embarazo , Estudios ProspectivosRESUMEN
ADAM12 (A disintegrin and metalloprotease) is one of the candidate genes demonstrating susceptibility to osteoarthritis. The purpose of this study was to investigate the relationship between ADAM12-S protein and radiographic knee osteoarthritis (KOA) and its correlation to several bone and cartilage biomarkers. The ADAM12-S protein was measured in 276 subjects (60% women, aged 32-60 years), including 181 individuals with and 95 without radiographic KOA features. The radiographs were obtained from both tibiofemoral (TF) and patellofemoral (PF) joints. The serum levels of ADAM12-S protein were measured by DELFIA1/AutoDELFIA research kit. The ADAM12-S protein was found in detectable ranges in 43 subjects (16 men), without statistical difference between the two genders. In the whole group, the ADAM12-S was related to radiographic KOA grades in TF (P = 0.004) as well in PF joint (P = 0.003). We also found a correlation between ADAM12-S protein and osteophytes in TF and/or PF joints (P = 0.003). No correlations were found between serum levels of S-CTx-I (C-terminal cross-linked telopeptides of type I collagen) or S-PINP (type I procollagen N-terminal propeptide) and ADAM12-S. Similarly, in the whole group, the ADAM12-S protein was not correlated with U-CTx-II (urinary C-telopeptide fragments of type II collagen); however, in the female group, trend to positive correlation between the investigated biomarkers (P = 0.019) was observed. The ADAM12-S protein could be elevated in some KOA cases, and this elevation correlates with the grades of the disease, mostly owning to development of osteophytes. This finding suggests the possible involvement of the ADAM12-S protein in the pathogenesis of KOA.
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Proteínas ADAM/metabolismo , Cartílago Articular/diagnóstico por imagen , Cartílago Articular/metabolismo , Proteínas de la Membrana/metabolismo , Osteoartritis de la Rodilla/diagnóstico por imagen , Osteoartritis de la Rodilla/metabolismo , Proteína ADAM12 , Adulto , Artrografía , Biomarcadores/metabolismo , Cartílago Articular/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Osteoartritis de la Rodilla/patologíaRESUMEN
OBJECTIVES: Pregnancy Associated Protein A (PAPP-A), A Disintegrin and Metalloproteinase 12 (ADAM12) and Placental Protein 13 (PP13) are secreted from the placental trophoblastic tissue and are involved in normal implantation and placental development. The aim of the study was to assess the connection between the secretion of these proteins and the growth of the gestational sac and the placenta. STUDY DESIGN: In an observational longitudinal study at Oulu University Hospital, women with naturally conceived pregnancies were followed-up weekly to pregnancy week 11. MAIN OUTCOME MEASURES: PAPP-A, ADAM12 and PP13 serum concentrations and their correlation with the volumes of the gestational sac and the placenta were assessed using three-dimensional ultrasonography. RESULTS: The study group consisted of 41 women. The PAPP-A, ADAM12 and PP13 serum concentrations increased continuously from pregnancy week 4 to week 11 and correlated closely with each other. The serum concentrations of PAPP-A, ADAM12 and PP13 also correlated with the volumes of the gestational sac and the placenta up to pregnancy week 8. CONCLUSIONS: The secretion of PAPP-A, ADAM12 and PP13 is closely related to the size of the placenta in the beginning of pregnancy. After 8 weeks of pregnancy, which is the time for luteoplacental shift, the correlation disappears, possibly reflecting the morphologic transformation in the placenta.
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Proteínas ADAM/metabolismo , Galectinas/metabolismo , Proteínas de la Membrana/metabolismo , Placentación , Proteínas Gestacionales/metabolismo , Proteína Plasmática A Asociada al Embarazo/metabolismo , Proteína ADAM12 , Adulto , Femenino , Humanos , Estudios Longitudinales , Placenta/diagnóstico por imagen , Placenta/metabolismo , Embarazo , Primer Trimestre del Embarazo , UltrasonografíaRESUMEN
OBJECTIVES: The present study aims at finding out whether a connection exists between altered serum free beta-hCG and/or alpha-fetoprotein (AFP) levels and the manifestation of specific pregnancy complications [i.e. gestational diabetes mellitus (GDM), pregnancy induced hypertension (PIH) or intrahepatic cholestasis of pregnancy (ICP)]. METHODS: We compared free beta-hCG and AFP multiples of median (MoM) values in singleton pregnancies. The study population consisted of 117 pregnancies with GDM, 107 with PIH and 24 with ICP. The control group consisted of 1148 singleton pregnancies without any pregnancy complications. All were spontaneously conceived. RESULTS: In the group with GDM, both the free beta-hCG (0.72 MoM) and AFP MoM values (0.93) were significantly lower than in controls (beta-hCG 0.97 MoM, p = 0.0063 and AFP 1.01 MoM, p = 0.01). No statistically significant differences in the marker levels were observed between the ICP pregnancies and the control group. CONCLUSIONS: GDM has an impact on maternal midtrimester free beta-hCG and AFP levels and may change the DS screening result.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Complicaciones del Embarazo/diagnóstico , Diagnóstico Prenatal , alfa-Fetoproteínas/metabolismo , Adulto , Biomarcadores , Estudios de Casos y Controles , Colestasis/sangre , Colestasis/diagnóstico , Diabetes Gestacional/sangre , Diabetes Gestacional/diagnóstico , Femenino , Humanos , Preeclampsia/sangre , Preeclampsia/diagnóstico , Valor Predictivo de las Pruebas , Embarazo , Complicaciones del Embarazo/sangre , Segundo Trimestre del Embarazo , Estudios ProspectivosRESUMEN
Self-diffusion of implanted (31)Si and (71)Ge in relaxed Si(0.20)Ge(0.80) layers has been studied in the temperature range 730-950 degrees C by means of a modified radiotracer technique. The temperature dependences of the diffusion coefficients were found to be Arrhenius-type with activation enthalpies of 3.6 eV and 3.5 eV and preexponential factors of 7.5 x 10(-3) m(2) s(-1) and 8.1 x 10(-3) m(2) s(-1) for (31)Si and (71)Ge , respectively. These results suggest that, as in Ge, in Si(0.20)Ge(0.80) both (31)Si and (71)Ge diffuse via a vacancy mechanism. Since in Si(0.20)Ge(0.80) (71)Ge diffuses only slightly faster than (31)Si , in self-diffusion studies on Si-Ge (71)Ge radioisotopes may be used as substitutes for the "uncomfortably" short-lived (31)Si radiotracer atoms.
RESUMEN
OBJECTIVES: The aim of this study was to test whether a recently reported polymorphism in the HERG gene coding for the rapidly activating delayed rectifier K+ channel has influence on myocardial repolarization. BACKGROUND: The length of myocardial repolarization, measured as the QT interval, has a hereditary component, but no genes that would explain the variability of repolarization have been identified in healthy subjects. METHODS: QT intervals were measured from the 12-lead electrocardiogram in a random middle-aged population (226 men/187 women). The longest QT interval at any of the 12 leads (QTmax), QTV(2), and the Tpeak-Tend interval were used as measures of repolarization. Deoxyribonucleic acid samples were genotyped for the nucleotide 2690A>C variation of the HERG gene, corresponding to the HERG K(lysine)897T(threonine) amino acid polymorphism. RESULTS: The allele frequencies were 0.84 (A) and 0.16 (C). Females with the genotype AC or CC had longer QTcmax (477 +/- 99 ms) and Tpeak-Tend intervals (143 +/- 95 ms) than females with the genotype AA (441 +/- 69 ms and 116 +/- 65 ms, p = 0.005 and p = 0.025, respectively). In males, the QTcmax and the Tpeak-Tend intervals did not differ between the genotypes. After adjustment for echocardiographic and various laboratory variables, the HERG K897T polymorphism remained as an independent predictor of QTcmax (p = 0.009) and the Tpeak-Tend intervals (p = 0.026) in females. CONCLUSIONS; The common K897T polymorphism of the HERG channel is associated with the maximal duration and transmural dispersion of ventricular repolarization in middle-aged females.
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Proteínas de Transporte de Catión , Proteínas de Unión al ADN , Polimorfismo Genético/genética , Canales de Potasio con Entrada de Voltaje , Canales de Potasio/genética , Transactivadores , Adulto , Índice de Masa Corporal , Canal de Potasio ERG1 , Electrocardiografía , Canales de Potasio Éter-A-Go-Go , Femenino , Finlandia/epidemiología , Frecuencia de los Genes/genética , Genotipo , Frecuencia Cardíaca/genética , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Valor Predictivo de las Pruebas , Valores de Referencia , Regulador Transcripcional ERG , Salud de la MujerRESUMEN
BACKGROUND: The aim of this study was to compare the maternal mid-trimester free beta-HCG and alpha-fetoprotein (AFP) levels in pregnancies conceived by assisted reproduction technology and spontaneous pregnancies in Down's syndrome screening. The influence of the number of embryos transferred and the amount of gonadotrophins used on the marker levels was also evaluated. METHODS: The study population consisted of 58 IVF, 32 ICSI and 26 frozen embryo transfer (FET) singleton pregnancies. The levels of beta-HCG and AFP were compared with the control group of 6548 singleton spontaneous pregnancies. RESULTS: The false positive rate (FPR) in the Down's syndrome screening was 19% overall in assisted reproductive technology pregnancies, being highest (30.8%) in the FET group. The free beta-HCG multiples of the median (MoM) values were statistically significantly elevated only in the FET group (1.33 MoM; P = 0.012). A positive correlation between the number of embryos transferred and the marker levels was observed in the IVF group. No correlation was found between the amount of gonadotrophin medication used and the marker levels. CONCLUSIONS: The present data confirm that the overall FPR in the serum screening for Down's syndrome in assisted reproduction pregnancies is high, resulting in unnecessary invasive procedures.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Síndrome de Down/diagnóstico , Embarazo/sangre , Técnicas Reproductivas , alfa-Fetoproteínas/análisis , Adulto , Criopreservación , Transferencia de Embrión , Reacciones Falso Positivas , Femenino , Fertilización In Vitro , Humanos , Segundo Trimestre del Embarazo , Inyecciones de Esperma IntracitoplasmáticasRESUMEN
The current trend in prenatal diagnosis is that trisomy screening is being moved to the first trimester and ultrasonographic nuchal translucency measurement is included in risk calculation. It is likely that biochemical screening in the second trimester will gradually be given up. In Eastern and Northern Finland, during the year 1999 we offered first-trimester ultrasonographic and serum screening for trisomy 21, with measurements of maternal serum PAPP-A and beta-hCG. A total of 2515 pregnant women participated in the screening, yielding the detection of eight foetuses with Down's syndrome. Six affected foetuses (75%) were detected by means of first-trimester serum screening. Since we were in the phase of collecting data for the Finnish medians for PAPP-A and beta-hCG, the women were not given the estimates of risk for trisomy 21. Only 1602 of the 2515 enrolled women had the combination of first-trimester ultrasonographic and serum screening performed, and in that group there were five foetuses with Down's syndrome. The combination ultrasonographic and serum approach yielded a Down's syndrome detection rate of 80% (four out of five) with a 5% false positive rate, whereas in nuchal translucency based-screening the detection rate was 60%, with a 5% false positive rate.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Síndrome de Down/diagnóstico por imagen , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Primer Trimestre del Embarazo , Proteína Plasmática A Asociada al Embarazo/biosíntesis , Diagnóstico Prenatal , Adulto , Reacciones Falso Positivas , Femenino , Finlandia , Humanos , Madres , Embarazo , Reproducibilidad de los Resultados , UltrasonografíaRESUMEN
OBJECTIVE: To study and compare the effects of mental and physical stress on long QT syndrome (LQTS) patients. DESIGN: Case-control study. MAIN OUTCOME MEASURES: QT intervals were measured from lead V3. Serum potassium and plasma catecholamine concentrations were also monitored. PATIENTS: 16 patients with type 1 LQTS (LQT1), 14 with type 2 LQTS (LQT2), both groups asymptomatic, and 14 healthy control subjects. INTERVENTIONS: Three types of mental stress tests and a submaximal exercise stress test. RESULTS: Heart rate responses to mental stress and exercise were similar in all groups. During mental stress, the mean QT interval shortened to a similar extent in controls (-29 ms), LQT1 patients (-34 ms), and LQT2 patients (-30 ms). During exercise, the corresponding QT adaptation to exercise stress was more pronounced (p < 0.01) in healthy controls (-47 ms) than in LQT1 (-38 ms) or LQT2 patients (-38 ms). During exercise changes in serum potassium concentrations were correlated to changes in QT intervals in controls, but not in LQTS patients. LQT1 and LQT2 patients did not differ in serum potassium, catecholamine or heart rate responses to mental or physical stress. CONCLUSIONS: QT adaptation to mental and exercise stress in healthy people and in patients with LQTS is different. In healthy people QT adaptation is more sensitive to physical than to mental stress while no such diverging pattern was seen in asymptomatic LQTS patients.
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Electrocardiografía , Síndrome de QT Prolongado/fisiopatología , Estrés Fisiológico/fisiopatología , Adolescente , Adulto , Biomarcadores/sangre , Epinefrina/sangre , Prueba de Esfuerzo , Femenino , Frecuencia Cardíaca/fisiología , Humanos , Síndrome de QT Prolongado/sangre , Síndrome de QT Prolongado/psicología , Masculino , Persona de Mediana Edad , Norepinefrina/sangre , Potasio/sangre , Estrés Fisiológico/sangre , Estrés Fisiológico/psicología , Estrés Psicológico/sangre , Estrés Psicológico/fisiopatologíaRESUMEN
BACKGROUND: Familial polymorphic ventricular tachycardia is an autosomal-dominant, inherited disease with a relatively early onset and a mortality rate of approximately 30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectional and polymorphic ventricular tachycardias in response to vigorous exercise, with no structural evidence of myocardial disease. We previously mapped the causative gene to chromosome 1q42-q43. In the present study, we demonstrate that patients with familial polymorphic ventricular tachycardia have missense mutations in the cardiac sarcoplasmic reticulum calcium release channel (ryanodine receptor type 2 [RyR2]). METHODS AND RESULTS: In 3 large families studied, 3 different RyR2 mutations (P2328S, Q4201R, V4653F) were detected and shown to fully cosegregate with the characteristic arrhythmic phenotype. These mutations were absent in the nonaffected family members and in 100 healthy controls. In addition to identifying 3 causative mutations, we identified a number of single nucleotide polymorphisms that span the genomic structure of RyR2 and will be useful for candidate-based association studies for other arrhythmic disorders. CONCLUSIONS: Our data illustrate that mutations of the RyR2 gene cause at least one variety of inherited polymorphic tachycardia. These findings define a new entity of disorders of myocardial calcium signaling.
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Canal Liberador de Calcio Receptor de Rianodina/genética , Taquicardia Ventricular/genética , Secuencia de Bases , Mapeo Cromosómico , Cromosomas Humanos Par 1/genética , ADN/química , ADN/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Finlandia , Haplotipos , Humanos , Masculino , Repeticiones de Microsatélite , Mutación , Mutación Missense , Miocardio/metabolismo , Linaje , Polimorfismo Genético , Taquicardia Ventricular/patologíaRESUMEN
We report the development of a time-resolved fluorometry-based immunoassay concept for the rapid measurement of three cardiac markers from whole blood, serum or plasma. Using a universal all-in-one (AIO) dry reagent concept, all the analyte specific reagents are built into a single microtire well, to which an identical assay protocol is applied. Addition of 5-20 microL sample (whole blood, serum or plasma) together with a universal buffer initiates the reaction, which is brought close to equilibrium in 15 min. After the wash step the Eu chelate-derived signal is measured directly from the dried surface. Application of this concept to the three cardiac markers illustrates its ability to provide rapid, highly sensitive and fully quantitative results over a large dynamic range with good reproducibility. Such a performance, especially when using whole blood specimens, is largely a consequence of the inherently fluorescent and stable Eu-chelate employed in the system. Correlation to commercial assays was excellent for all three analytes, as was between-sample matrix correlation using the AIO assays. The presented assay concept enabling a simple automation is particularly suited for point-of-care applications, where the performance characteristics are fully comparable to state-of-the-art central laboratory immunoassays.
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Fluoroinmunoensayo/métodos , Infarto del Miocardio/sangre , Biomarcadores/sangre , Análisis Químico de la Sangre/métodos , Análisis Químico de la Sangre/estadística & datos numéricos , Creatina Quinasa/sangre , Fluoroinmunoensayo/estadística & datos numéricos , Humanos , Indicadores y Reactivos , Infarto del Miocardio/enzimología , Mioglobina/sangre , Plasma/química , Sensibilidad y Especificidad , Troponina I/sangreRESUMEN
OBJECTIVE: To evaluate the pharmacokinetics of amrinone and its metabolites in neonates and infants after reconstructive surgery for congenital heart disease. DESIGN: Prospective study. SETTING: Pediatric intensive care unit in a university hospital. PARTICIPANTS: Fifteen neonates aged less than 1 month with transposition of the great arteries and 14 infants aged 2 to 6 months with complete atrioventricular septal defect. INTERVENTIONS: Amrinone, loading dose of 2 mg/kg, was administered before weaning from cardiopulmonary bypass, followed by a maintenance infusion of 7.5 microg/kg/min. MEASUREMENTS AND MAIN RESULTS: Blood samples to determine plasma concentrations of amrinone, N-acetylamrinone, and N-glycolylamrinone were drawn before amrinone administration, frequently after the loading dose, every 6 hours during the maintenance infusion, and until 48 hours after the end of the infusion. Amrinone clearance was 2.4 +/- 0.9 mL/kg/min in neonates and 3.2 +/- 1.2 mL/kg/min in infants (p < 0.05). The volume of distribution at steady-state was smaller (p < 0.05) in neonates than in infants. The elimination half-life of amrinone was 10.7 +/- 6.7 hours in neonates and 6.1 +/- 1.4 hours in infants (p < 0.05). There was a linear correlation between the clearance of amrinone and the body surface area (r = 0.67; p < 0.05). The ratio of the plasma concentration of N-acetylamrinone to that of amrinone did not differ between neonates and infants. CONCLUSIONS: Amrinone is eliminated at a slower rate in neonates than in infants. The rate of acetylation of amrinone appears to be similar; the differences in the elimination capacity of amrinone are mainly due to the immature renal function in neonates.
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Amrinona/análogos & derivados , Amrinona/farmacocinética , Cardiotónicos/farmacocinética , Inhibidores de Fosfodiesterasa/farmacocinética , Puente Cardiopulmonar , Femenino , Semivida , Cardiopatías Congénitas/cirugía , Humanos , Lactante , Recién Nacido , Masculino , Estudios ProspectivosRESUMEN
The necessity for postoperative inhaled nitric oxide (NO) therapy and predictive factors for that need were retrospectively analysed in 457 paediatric patients at risk of pulmonary hypertensive events following open-heart surgery for congenital heart disease. Inhaled NO was given postoperatively to 46% of the study group and to 23% of all patients undergoing open-heart surgery during the study period. Factors associated with increased need for postoperative NO were age <1 year, Down's syndrome, preoperative pulmonary hypertension and increased pulmonary vascular resistance. Using a multivariate model based on these factors, 73% of the patients who were given NO were identified. Thus, in a setting with unrestricted access to NO therapy, almost half of the patients with cardiac lesions that commonly give rise to postoperative pulmonary hypertension were given postoperative NO. Seventy-three percent of postoperative NO treatment was associated with a relatively small number of pre- and perioperative patient-related risk factors.
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Cardiopatías Congénitas/cirugía , Óxido Nítrico/uso terapéutico , Cuidados Posoperatorios/estadística & datos numéricos , Adolescente , Adulto , Niño , Preescolar , Femenino , Predicción , Humanos , Lactante , Recién Nacido , MasculinoRESUMEN
Analysis of the entire coding region of the HERG gene of 39 Finnish LQTS patients revealed eight mutations, six of which are hitherto unreported. All these mutations are located in the evolutionarily conserved regions of HERG, including the transmembrane domains (P451L, Y569H, 1631delAG, G584S, G601S, T613M) and the cytoplasmic N-terminus (453delC, R176W) of the channel. Our present and earlier results suggest that the LQT2 subtype accounts for approximately 20-30% of LQTS cases in Finland. We also report the first common amino acid polymorphism (K897T) of the HERG channel, with allele frequencies of 0.84 and 0.16. Investigation of 170 genetically homogenous LQT1 patients suggests that this polymorphism may influence QT interval in female individuals.
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Sustitución de Aminoácidos/genética , Proteínas de Transporte de Catión , Proteínas de Unión al ADN , Síndrome de QT Prolongado/genética , Mutación/genética , Polimorfismo Conformacional Retorcido-Simple , Canales de Potasio con Entrada de Voltaje , Canales de Potasio/genética , Transactivadores , Adulto , Anciano , Análisis Mutacional de ADN , Canal de Potasio ERG1 , Canales de Potasio Éter-A-Go-Go , Femenino , Humanos , Persona de Mediana Edad , Fenotipo , Canales de Potasio/análisis , Eliminación de Secuencia , Regulador Transcripcional ERGRESUMEN
OBJECTIVES: We studied the clinical characteristics and molecular background underlying a severe phenotype of long QT syndrome (LQTS). BACKGROUND: Mutations of cardiac ion channel genes cause LQTS, manifesting as increased risk of ventricular tachycardia and sudden death. METHODS: We studied two siblings showing prolonged QT intervals corrected for heart rate (QTc), their asymptomatic parents with only marginally prolonged QTc intervals and their family members. The potassium channel gene HERG was screened for mutations by deoxyribonucleic acid sequencing, and the electrophysiologic consequences of the mutation were studied in vitro using the whole-cell patch-clamp technique. RESULTS: A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified. One of the homozygous siblings had 2:1 atrioventricular block immediately after birth, and died at the age of four years after experiencing unexplained hypoglycemia. The other sibling had an episode of torsade de pointes at the age of two years. The mean QTc interval differed significantly (p < 0.001) between heterozygous symptomatic mutation carriers (500 +/- 59 ms), asymptomatic mutation carriers (452 +/- 34 ms) and noncarriers (412 +/- 23 ms). When expressed in vitro, the HERG-L552S formed functional channels with increased activation and deactivation rates. CONCLUSIONS: Our data demonstrate that homozygosity for a HERG mutation can cause a severe cardiac repolarization disorder without other phenotypic abnormalities. Absence of functional HERG channels appears to be one cause for intrauterine and neonatal bradycardia and 2:1 atrioventricular block.
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Proteínas de Transporte de Catión , Proteínas de Unión al ADN , Síndrome de QT Prolongado/genética , Canales de Potasio con Entrada de Voltaje , Canales de Potasio/genética , Transactivadores , Adulto , Niño , Canal de Potasio ERG1 , Canales de Potasio Éter-A-Go-Go , Femenino , Finlandia , Homocigoto , Humanos , Masculino , Mutación , Linaje , Fenotipo , Índice de Severidad de la Enfermedad , Regulador Transcripcional ERGRESUMEN
The preoperative dose response to inhaled nitric oxide (NO) was compared with the need for and response to NO after cardiac surgery in patients with congenital heart defect and secondary pulmonary hypertension. In a preoperative vasodilator test with inhaled NO 20, 40 and 80 ppm and oxygen, mean pulmonary artery pressure (PAP) was at least 40 mmHg and/or the pulmonary vascular resistance index (PVRI) 4 Wood units. Preoperatively, NO 40 ppm and FiO2 0.9 reduced systolic pulmonary/systemic arterial pressure (PAPs/SAPs) from 0.89 (SD 0.10) to 0.80 (0.18) and pulmonary/systemic vascular resistance (PVR/SVR) from 0.26 (0.13) to 0.13 (0.08). Haemodynamic assessment was repeated in 11 patients postoperatively. NO treatment was started if PAPs/SAPs rose to 0.8 or the pulmonary oximetry fell below 40%. Postoperatively, eight of 11 patients, including 6 patients with Down's syndrome, needed NO. PAPs/SAPs decreased more than preoperatively: 48.5% vs 11.2, p = 0.0045. Pulmonary oximetry increased by 15.7%, p = 0.02. The degree of preoperative response to NO did not differ between the patients with postoperative pulmonary hypertension and the other children. Patients with early pulmonary hypertensive crisis (first 24 h; n = 6) had a higher PVRI (7.6 vs 4.4 Um2; p = 0.003) and PVR/SVR (0.34 VS 0.17; p = 0.02) preoperatively. Two patients died in pulmonary hypertensive crisis.
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Cardiopatías Congénitas/cirugía , Hipertensión Pulmonar/tratamiento farmacológico , Óxido Nítrico/administración & dosificación , Vasodilatadores/administración & dosificación , Administración por Inhalación , Cateterismo Cardíaco , Preescolar , Femenino , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/fisiopatología , Humanos , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/fisiopatología , Lactante , Masculino , Oximetría , Cuidados Posoperatorios/métodos , Cuidados Preoperatorios/métodos , Presión Esfenoidal Pulmonar/efectos de los fármacos , Resultado del Tratamiento , Resistencia Vascular/efectos de los fármacosRESUMEN
We aimed to compare the levels of alpha-fetoprotein (AFP) and free beta-human chorionic gonadotrophin (beta-hCG) levels as multiples of the median (MoM) values between spontaneous and in vitro fertilized (IVF) twin pregnancies. The control group of spontaneous singleton pregnancies was used for calculating the gestational age specific median levels of the values. Within a cohort of 19 310 pregnancies, 145 twin pregnancies were identified. The data were collected from Down syndrome (DS) screening programmes in four University catchment areas in Finland between 1994-98. Maternal midtrimester serum marker levels were measured across gestational weeks 14-18. There were no fetal chromosome anomalies in either of the twin groups or the singleton group. Serum AFP of 145 and beta-hCG values of 39 spontaneous twin pregnancies were compared to the values of 6548 singleton pregnancies. In IVF twins 30 AFP and 29 beta-hCG values were compared to the levels of the control group. Both AFP and beta-hCG values were twice as high in the spontaneous twin pregnancies (medians 2.18 and 1.83 MoM respectively) as in the singleton group (medians 1.00 and 1.00 MoM respectively). In IVF twin pregnancies beta-hCG levels were higher (median 2.20 MoM) than in spontaneous twins (p=0.08), whereas no significant difference was found in AFP levels (2.30 MoM). In conclusion, the higher levels of beta-hCG levels in IVF twin pregnancies should be considered in DS screening to avoid high false positive rates.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Fertilización In Vitro , Embarazo Múltiple/sangre , Gemelos , alfa-Fetoproteínas/análisis , Femenino , Edad Gestacional , Humanos , EmbarazoAsunto(s)
Arteriosclerosis/sangre , Colágeno/sangre , Homocisteína/sangre , Péptidos/sangre , Colágeno Tipo I , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVES: This study was performed to evaluate the QT interval and heart rate responses to exercise and recovery in gene and mutation type-specific subgroups of long QT syndrome (LQTS) patients. BACKGROUND: Reduced heart rate and repolarization abnormalities are encountered among long QT syndrome (LQTS) patients. The most common types of LQTS are LQT1 and LQT2. METHODS: An exercise stress test was performed in 23 patients with a pore region mutation and in 22 patients with a C-terminal end mutation of the cardiac potassium channel gene causing LQT1 type of long QT syndrome (KVLQT1 gene), as well as in 20 patients with mutations of the cardiac potassium channel gene causing LQT2 type of long QT syndrome (HERG gene) and in 33 healthy relatives. The QT intervals were measured on electrocardiograms at rest and during and after exercise. QT intervals were compared at similar heart rates, and rate adaptation of QT was studied as QT/heart rate slopes. RESULTS: In contrast to the LQT2 patients, achieved maximum heart rate was decreased in both LQT1 patient groups, being only 76 +/- 5% of predicted in patients with pore region mutation of KvLQT1. The QT/heart rate slopes were significantly steeper in LQT2 patients than in controls during exercise. During recovery, the QT/heart rate slopes were steeper in all LQTS groups than in controls, signifying that QT intervals lengthened excessively when heart rate decreased. At heart rates of 110 or 100 beats/min during recovery, all LQT1 patients and 89% of LQT2 patients had QT intervals longer than any of the controls. CONCLUSIONS: LQT1 is associated with diminished chronotropic response and exaggerated prolongation of QT interval after exercise. LQT2 patients differ from LQT1 patients by having marked QT interval shortening and normal heart rate response to exercise. Observing QT duration during recovery enhances the clinical diagnosis of these LQTS types.