The incidence of multiple gestations is increasing worldwide and many studies have shown higher perinatal morbidity and mortality rates in monochorionic twins compared to dichorionic. The aim of this study was to assess the twin population born at a tertiary center and to evaluate the impact of chorionicity on perinatal outcomes of twin pregnancies. Material and Methods:Retrospective study of all twins born in a tertiary center from January 2004 to December 2013. Results: In this period, 1051 twins were born, related to 540 gestations (26.7% monochorionic; 73.3% dichorionic). There was no statistical significant difference between the groups concerning obstetric complications. The monochorionic group had a higher incidence of intrauterine growth restriction (20.5 vs 11.3%, p < 0.001), lower mean maternal age (29.9 vs 31.9 years, p < 0.001), lower mean gestational age (33.4 vs 34.3 weeks, p < 0.05) and lower mean birth weight (1943 vs 2147 g, p < 0.001). Monochorionic twins had a higher incidence of hyaline membrane disease (7 vs 4%, p < 0.05), sepsis (10.3 vs 5.8%, p < 0.05) and anemia (9.5 vs 5.4%, p < 0.05). There were no statistical significant differences concerning necrotizing enterocolitis, intraperiventricular hemorrhage or retinopathy of prematurity. Perinatal mortality was higher in the monochorionic group (5.2 vs 2.9%, p < 0.05). Discussion: Monochorionic twins represent considerable challenges to both obstetricians and neonatologists and should be monitored and delivered at tertiary centers. Conclusion: Currently gemelarity has a major impact on total births. It would be interesting to develop protocols to standardize clinical approach to twins.
Nonketotic hyperglycinemia is a rare metabolic disorder with severe, frequently fatal, neurologic manifestations. Reliable and accurate diagnosis depends on careful interpretation of laboratory findings. The clinical suspicion should lead to determination of glycine in plasma and cerebrospinal fluid. Amino acid analysis presents diagnostic values for classic nonketotic hyperglycinemia, but it also should be performed in suspected cases of atypical nonketotic hyperglycinemia and in children with seizures, failure to thrive, behavior problems, and uncoordinated movements. Clinical assessment should be reinforced by demonstration of elevated cerebrospinal fluid-to-plasma glycine ratio. Confirmatory diagnosis requires enzymatic and genetic investigation of glycine cleavage system. An early diagnosis, though not affecting clinical outcome, allows proper genetic counseling, with the possibility of prenatal diagnosis. We report 3 cases of nonketotic hyperglycinemia, 2 typical neonatal and 1 atypical, diagnosed in Pediatric Hospital of Coimbra, Portugal, and investigated at Laboratory of Biochemical Genetics in 2004 to 2010 (incidence 1:47 455; prevalence 1:782 951).
From september to december, 2010, we have assessed the frequency and occurrence of adverse events to Pneumo-coccal conjugated 13-valent vaccine (PCV-13) in the Public vaccination program of the municipality of Campos dos Goytacazes, State of Rio de Janeiro, the unique city in Brazil that has introduced this vaccine in it’s immunization schedule. This study analyzed 1001 toddlers who have received PCV-13 at 3, 5 and 7 months and a booster dose at 12 months. We observed a total of 514 local and systemic events in 303 subjects (30.2% of 1001 infants). The most reported systemic events were irritability (18.8%) and fever < 38.5°C (17.1%), followed by fever > or = 38.5°C (8.8%), loss of appetite (8.4%). Erythema (11.2%) and local pain (9.4%) were the most reported local events. Other events reported were diarrhea (6.2%), increased sleep (5.1%), edema and induration (4.8%), decreased sleep (4.3%), vomiting (1.4%), eruption (1.2%) urticaria (0.8%), prurience (0.8%), lymphadenopathy (0.2%) and hypersensitivity reaction (0.2%). There wasn’t any reported case of convulsion or Hospital admission. When stratified by each dose, irritability (systemic) and erythema (local) were the most common events reported at the first and fourth dose, although fever < 38.5°C (systemic) and pain (local) were the most common at second and third doses. Results were close to those encountered in product monograph. In our study, PCV-13 was secure in pneumococcal disease prevention and well tolerated
Congenital ichthyosis comprise a group of genetic disorders caused by mutations in the keratinocyte differentiation and consequent disruption of the skin barrier function. Autosomal recessive congenital ichthyosis is a heterogeneous, non-syndromic subgroup characterized by a defect in skin cornification, hyperkeratosis, scaling and erythroderma. The term collodion baby encompasses neonates wrapped at birth in a shiny collodion membrane that peels away in the first weeks of life and is gradually replaced by the definitive phenotype. We report a case of a collodion baby that progressed to a lamellar ichthyosis (LI) with a novel mutation of the TGM1 gene that has not been reported in the literature. This case highlights the need to expand the spectrum of TGM1 mutations in order to understand the etiopathogenesis of LI.
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