14 resultados para Monozygotic twin
em Scielo Saúde Pública - SP
Influence of intrauterine and extrauterine growth on neurodevelopmental outcome of monozygotic twins
Resumo:
There have been indications that intrauterine and early extrauterine growth can influence childhood mental and motor function. The objective of the present study was to evaluate the influence of intrauterine growth restriction and early extrauterine head growth on the neurodevelopmental outcome of monozygotic twins. Thirty-six monozygous twin pairs were evaluated at the corrected age of 12 to 42 months. Intrauterine growth restriction was quantified using the fetal growth ratio. The effects of birth weight ratio, head circumference at birth and current head circumference on mental and motor outcomes were estimated using mixed-effect linear regression models. Separate estimates of the between (interpair) and within (intrapair) effects of each measure on development were thus obtained. Neurodevelopment was assessed with the Bayley Scales of Infant Development, 2nd edition, by a psychologist blind to the exposure. A standardized neurological examination was performed by a neuropediatrician who was unaware of the exposures under investigation. After adjustment, birth weight ratio and head circumference at birth were not associated with motor or mental outcomes. Current head circumference was associated with mental but not with motor outcomes. Only the intrapair twin effect was significant. An increase of 1 cm in current head circumference of one twin compared with the other was associated with 3.2 points higher in Mental Developmental Index (95%CI = 1.06-5.32; P < 0.03). Thus, no effect of intrauterine growth was found on cognition and only postnatal head growth was associated with cognition. This effect was not shared by the co-twin.
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A case of a pregnant patient with chronic hepatitis C who gave birth to monozygotic twins that were infected with HCV is reported. One of the newborns was positive for HCV-RNA in blood sample collected 12 hours after delivery. The other newborn was negative for HCV-RNA at birth, but was detected HCV viremia at three months of age. The results have led to the conclusion that one of the twins was probably contaminated in the intrauterine period, while the other acquired the infection in the perinatal period. Both were negative for HCV-RNA and for anti-HCV in the serum samples collected at nine months of age. The report describes the changes in the laboratory tests conducted in mother and twins until 29 months after delivery.
Resumo:
Abstract Background: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. Objectives: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. Methods: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. Results: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. Conclusions: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.
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A dichorionic twin pregnancy with complete hydatidiform mole and coexistent fetus is a rare and challenging situation, whose pathogenesis has not been yet fully understood. We present a case of a 39-year-old woman who underwent intracytoplasmic sperm injection with two embryos transfer. The 12-week gestation ultrasound examination revealed normal fetus and placenta with features of hydatidiform mole, leading to pregnancy termination. Autopsy and histological examinations diagnosed a complete mole coexisting with a normal fetus, and the genetic analysis showed a diploid fetus with biparental genome and molar tissue with paternal diploidy. This case highlighted that complete molar pregnancies may still occur even though pregnancy is achieved after intracytoplasmic sperm injection. A review of the literature was performed by collecting data from the few similar reported cases and by commenting on the pathogenesis of this rare condition.
Resumo:
PURPOSE: To compare obstetric outcomes of induced preterm twin births (under 32 weeks gestation) with those spontaneously conceived. METHODS: Prospective study of twin pregnancies (25 induced and 157 spontaneously conceived) developed over a period of 16 years in a tertiary obstetric center. Demographic factors, obstetric complications, gestational age at delivery, mode of delivery, birth weight and immediate newborn outcome were compared. RESULTS: The analysis of obstetrical complications concerning urinary or other infections, hypertensive disorders of pregnancy, gestational diabetes, fetal malformations, intrauterine fetal death, intrauterine growth restriction and intrauterine discordant growth reveal no significant statistical differences between the two groups. First trimester bleeding was higher in the induced group (24 versus 8.3%, p=0.029). The cesarean delivery rate was 52.2% in spontaneous gestations and 64% in induced gestations. Gestational age at delivery, birth weight, Apgar scores at first and fifth minutes, admissions to Neonatal Intensive Care Unit and puerperal complications show no statistically significant differences between the two groups. These results were independent of chorionicity and induction method. CONCLUSION: The mode of conception did not influence obstetric and neonatal outcomes. Although induced pregnancies have higher risk of first trimester bleeding, significant differences were not observed regarding other obstetric and puerperal complications and neonatal results.
Resumo:
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T), in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X), was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.
Resumo:
Since the 1990s, alongside China's economic growth, the international community has fostered a general anxiety towards a "China threat." In order to relieve itself from suspicion, China adopted the dual strategies of "harmonious worldview" and "good neighbor policy." The strategies led to the use of soft power in China's foreign policy. China aimed to reduce security concerns implied by the threat theory by supporting an image that caters to international peace and development. This article seeks to explain how China achieves its interests in Southeast Asia through the use of soft power. The authors address the concepts of "harmonious worldview" and "good neighbor policy" and how the twin strategies and soft power have shaped China's foreign policy in recent years. This article aims to provide insights into China's policy options in Southeast Asia in the near future.
Resumo:
OBJECTIVE: To analyze the rate of cesarean section and differences in risk factors by category of health service, either public or private. METHODS: A cross-sectional study was carried out including all pregnant women in labor admitted to hospitals in the city of Rio Grande, Southern Brazil, between January 1 and December 31, 2007. A pre-coded and pre-tested questionnaire was used to collect on social, demographic, obstetric and newborn care information. Two regression models were constructed: one for public users and the other one for private ones. Poisson regression was used in each model in the multivariate analysis. Prevalence rates and 95% confidence intervals were calculated for each adjusted factor. RESULTS: The rate of cesarean section was 43% and 86% among public and private users. Sociodemographic factors and twin births have a more significant impact among public users as well as number of pregnancies (25% vs. 13% reduction in public and private users, respectively) and previous cesarean section (86% vs. 24% increase in public and private users, respectively). Prenatal care visits and hospital admissions affected the outcome only in women users of public services. CONCLUSIONS: Cesarean section rates were high in both groups studied, but it was twice as high among women cared in the private sector. Associated factors differ in magnitude by category of service used.
Resumo:
O objetivo deste trabalho foi avaliar a deposição das gotas de pulverização, dotadas de carga elétrica (eletrostática), em comparação à técnica de pulverização convencional em crisântemo, com uso de diferentes pontas de pulverização. O experimento foi conduzido em delineamento inteiramente ao acaso, com oito tratamentos: combinação das pontas TXVK-3, AXI 110015, AXI 12002 TWIN e AXI 11003, com duas técnicas de pulverização (com e sem eletrostática), e quatro repetições. Cada repetição foi representada por 12 plantas, às quais foram afixados papéis do tipo mata-borrão na superfície abaxial e adaxial dos folíolos, e em duas posições da planta: ápice e base. Um corante marcador (Rodamina B) foi pulverizado na proporção de 5 g por 100 L d'água em cada um dos tratamentos. Os depósitos do marcador foram quantificados por fluorometria. As pontas com gotas de menor diâmetro mediano volumétrico (TXVK-3 e AXI 110015) apresentaram maiores depósitos na superfície abaxial da folha, quando se utilizou a pulverização eletrostática. Esse fato não foi observado, quando foram pulverizadas gotas com maior diâmetro mediano volumétrico e desprovidas de carga elétrica, nas diferentes partes da planta.
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The aim of this study was to evaluate different spray nozzles for land applications in high speed on the coverage and deposit in soybean plants pulverization. It was evaluated the AXI 110 04 plane jet nozzles operated at speed of 4.17m.s-1 (control), the grey APE and the AXI 110 08 plane jets, and the TD HiSpeed 110 06 and AXI TWIN 120 06 twin jets, at speed of 9.72m.s-1. The application volume was fixed in 120L ha-1. The application efficiency was evaluated by two different methods: analysis of the coverage area using fluorescent pigment and UV light and analysis of deposits through the recovery and quantification of FD&C N°1 brilliant blue marker by spectrophotometry. Both analyses were done in samples collected from top, middle and bottom parts of the plants. The spray nozzles showed differences in coverage and deposit pattern, so in the top part, the coverage was increased with smaller drops and the deposits were increased with medium drops. In the other parts of the plants, there were no statistical differences between the treatments for both coverage and deposits. The displacement speed did not influence the application efficiency for nozzles with the same drop pattern, and the obtained spray coverage and deposits at the medium and bottom parts of the plants were less than 50% of that found at the top of the soybean plants.
Resumo:
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.
Resumo:
Rice flour was processed by extrusion cooking in the presence of variable contents of water and sucrose. The process was carried out in a twin-screw extruder under the conditions given by a centre rotational experimental design of second order. The effects of the independent variables, water content (27.9 to 42.1%), and sucrose content (0.1 to 19.9%) on the physicochemical properties of the extrudates were investigated. The water absorption index (WAI), water solubility index (WSI), volumetric expansion index (VEI), and bulk density (BD) were determined as dependent variables. BD was determined for samples before and after frying. An increase in water contents resulted in higher WAI and VEI, and lower WSI and BD for extrudates before and after frying. Higher sucrose levels led to increased values of WAI and VEI and to reduced values of WSI and BD. Both independent variables had significant influence on the physicochemical properties of rice flour extrudates. However, the sucrose content was the most significant. The interaction between these two independent variables and their quadratic effect were also important for the responses studied.
Resumo:
The effects of sucrose and water contents on cassava flour processed by extrusion at varied concentrations of sucrose (0-20% w/w) and water (28-42% w/w) were studied by applying response surface methodology. The extrusion of the mixtures was performed in a twin screw extruder fitted to a torque rheometer. The specific mechanical energy (SME) dissipated inside a conical twin-screw extruder was measured. Water absorption index (WAI), water solubility index (WSI) and paste viscosity readings (cold viscosity (CV), peak viscosity (PV), breakdown (BD) and set back (SB)) during a gelatinization-retrogradation cycle measured in a Rapid Visco Analyzer were determined on non-directly extruded products. The results indicated that SME and WSI decreased as a function of water and sucrose contents. WAI and pasting properties were influenced by water content. A non antiplasticizing effect of the sucrose content was observed on pasting properties, suggesting that sucrose did not reduce the availability of water available for gelatinizing cassava flour during the extrusion process. The nature of the optimum point was characterized as a saddle point for WAI, WSI, PV and BD, whereas SME showed a maximum and CV and SB a minimum. The results indicated to be valuable for the production of non-expanded cassava flour extrudates with desirable functional properties for specific end users.