Carbamazepine-Responsive Chorea in a Toddler with Semilobar Holoprosencephaly: Case Report.

Introduction: Holoprosencephaly (HPE) is a central nervous system malformation defined by incomplete separation of the prosencephalon in two hemispheres and determines a broad spectrum of clinical presentations based on extension of non-separation. Case Presentation: A 1 year and 8 months' old girl with semilobar HPE and 18p deletion syndrome was admitted to our hospital due to viral bronchiolitis. During hospitalization, she started generalized choreic movements, with face dyskinesia and without any identified aggravating factors. Haloperidol, clonazepam, and valproic acid did not achieve an attenuation of the movement disorder. Significant symptom relief was obtained with the use of trihexyphenidyl, with reduced amplitude and frequency of movements, but hyperthermia compromised its use. Control of chorea with no important side effects was only achieved after the introduction of carbamazepine. Discussion: Despite significant morbidity, there are few cases described in the literature of chorea and movement disorders in HPE and no effective treatment strategies described. Carbamazepine is an antiepileptic drug that stabilizes voltage-gated sodium channels and is the most effective treatment for paroxysmal kinesigenic dyskinesia. Although it has been used successfully in the treatment of different movement disorders, few therapeutic trials have been reported. The mechanism by which carbamazepine alleviates chorea is still unknown but may be justified through the blocking of post-synaptic dopamine receptors and stimulation of cholinergic pathways.

Factors Associated with the Need for Insulin as a Complementary Treatment to Metformin in Gestational Diabetes Mellitus.

OBJECTIVE: To evaluate the factors associated with the need for insulin as a complementary treatment to metformin in pregnant women with gestational diabetes mellitus (GDM). METHODS: A case-control study was performed from April 2011 to February 2016 with pregnant women with GDM who needed complementary treatments besides diet and physical exercise. Those treated with metformin were compared with those who, in addition to metformin, also needed the combination with insulin. Maternal characteristics and glycemic control were evaluated. Multinomial logistic regression models were developed to evaluate the influence of different therapies on neonatal outcomes. RESULTS: A total of 475 pregnant women who needed pharmacological therapy were evaluated. Of these, 366 (77.05%) were submitted to single therapy with metformin, and 109 (22.94%) needed insulin as a complementary treatment. In the analysis of the odds ratio (OR), fasting glucose (FG) < 90 mg/dL reduced the odds of needing the combination (OR: 0.438 [0.235-0.815]; p = 0.009], as well as primiparity (OR: 0.280 [0.111-0.704]; p = 0.007]. In obese pregnant women, an increased chance of needing the combination was observed (OR: 2,072 [1,063-4,039]; p = 0,032). CONCLUSION: Obesity resulted in an increased chance of the mother needing insulin as a complementary treatment to metformin, while FG < 90 mg/dL and primiparity were protective factors.

OBJETIVO: Avaliar os fatores associados à necessidade de insulina como tratamento complementar à metformina em gestantes com diabetes mellitus gestacional (DMG). MéTODOS: Um estudo caso-controle foi realizado de abril de 2011 a fevereiro de 2016 com gestantes portadoras de DMG que necessitaram de tratamentos complementares além de dieta e exercícios físicos. Aquelas tratadas com metformina foram comparadas com aquelas que, além da metformina, também precisaram de combinação com insulina. Foram avaliadas as características maternas e de controle glicêmico. Modelos de regressão logística multinomial foram construídos para avaliar a influência das diferentes terapias nos desfechos neonatais. RESULTADOS: Foram avaliadas 475 gestantes que necessitaram de terapia farmacológica. Destas, 366 (77,05%) utilizaram terapia única com metformina, e 109 (22,95%) necessitaram de insulina como tratamento complementar. Na análise da razão de possibilidades (RP), a glicemia de jejum (GJ) < 90 mg/dL reduziu as chances de necessidade da combinação (RP: 0,438 [0,235­0,815]; p = 0,009), bem como a primiparidade (RP: 0,280 [0,111­0,704]; p = 0,007). Em gestantes obesas, foi observada uma chance maior de necessidade da combinação (RP: 2.072 [1.063­4.039]; p = 0,032). CONCLUSãO: A obesidade resultou em um aumento na chance de a mãe precisar de insulina como tratamento complementar à metformina, enquanto a GJ < 90 mg/dL e a primiparidade foram fatores de proteção.

Factors associated with the need for insulin as a complementary treatment to metformin in gestational diabetes mellitus / Fatores associados à necessidade de insulina como tratamento complementar à metformina na diabetes mellitus gestacional

Abstract Objective To evaluate the factors associated with the need for insulin as a complementary treatment to metformin in pregnant women with gestational diabetes mellitus (GDM). Methods A case-control study was performed from April 2011 to February 2016 with pregnant women with GDM who needed complementary treatments besides diet and physical exercise. Those treated with metformin were compared with those who, in addition to metformin, also needed the combination with insulin. Maternal characteristics and glycemic control were evaluated. Multinomial logistic regression models were developed to evaluate the influence of different therapies on neonatal outcomes. Results A total of 475 pregnant women who needed pharmacological therapy were evaluated. Of these, 366 (77.05%) were submitted to single therapy with metformin, and 109 (22.94%) needed insulin as a complementary treatment. In the analysis of the odds ratio (OR), fasting glucose (FG)<90 mg/dL reduced the odds of needing the combination (OR: 0.438 [0.235-0.815]; p=0.009], as well as primiparity (OR: 0.280 [0.111-0.704]; p=0.007]. In obese pregnant women, an increased chance of needing the combination was observed (OR: 2,072 [1,063-4,039]; p=0,032). Conclusion Obesity resulted in an increased chance of the mother needing insulin as a complementary treatment to metformin, while FG<90 mg/dL and primiparity were protective factors.

Resumo Objetivo Avaliar os fatores associados à necessidade de insulina como tratamento complementar à metformina em gestantes com diabetes mellitus gestacional (DMG). Métodos Um estudo caso-controle foi realizado de abril de 2011 a fevereiro de 2016 comgestantes portadoras de DMG que necessitaram de tratamentos complementares além de dieta e exercícios físicos. Aquelas tratadas commetformina foram comparadas com aquelas que, além da metformina, também precisaram de combinação com insulina. Foram avaliadas as características maternas e de controle glicêmico. Modelos de regressão logística multinomial foram construídos para avaliar a influência das diferentes terapias nos desfechos neonatais. Resultados Foram avaliadas 475 gestantes que necessitaram de terapia farmacológica. Destas, 366 (77,05%) utilizaram terapia única com metformina, e 109 (22,95%) necessitaram de insulina como tratamento complementar. Na análise da razão de possibilidades (RP), a glicemia de jejum (GJ)<90mg/dL reduziu as chances de necessidade da combinação (RP: 0,438 [0,235-0,815]; p=0,009), bem como a primiparidade (RP: 0,280 [0,111-0,704]; p=0,007). Em gestantes obesas, foi observada uma chance maior de necessidade da combinação (RP: 2.072 [1.063-4.039]; p=0,032). Conclusão A obesidade resultou em um aumento na chance de a mãe precisar de insulina como tratamento complementar à metformina, enquanto a GJ<90 mg/dL e a primiparidade foram fatores de proteção.

Auditoria de um serviço de atendimento de gestantes portadoras de Diabetes mellitus gestacional / An audit of a healthcare service for pregnant woman with Gestational Diabetes Mellitus (GDM)

Avaliar o tratamento utilizado e a classificação de peso de recém-nascidos (RN) de gestantes portadoras de Diabetes Mellitus Gestacional (DMG). Foi realizado um estudo transversal descritivo com gestantes portadoras de DMG, em gestação única, no período de abril de 2011 a fevereiro de 2016. Os dados avaliados foram o tipo de tratamento utilizado e a classificação de peso do RN. Foram avaliadas 893 gestantes. A dieta e a atividade física como única terapêutica foram utilizadas por 306 (34,3%), 366 (41%) necessitaram metformina, a associação de metformina e insulina foi necessária em 109 (12,2%) e utilizaram somente insulinoterapia 112 (12,5%) gestantes. Houve 27 (3,0%) RN pequenos para a idade gestacional (PIG), 687 (76,9%) RN adequados para a idade gestacional (AIG) e 179 (20,0%) RN grandes para a idade gestacional (GIG). A metformina foi a terapêutica mais utilizada e a maioria dos recém-nascidos foram AIG.

Evaluate the treatment used and the weight classification of newborns (NB) of pregnant women with Gestational Diabetes Mellitus (GDM). A descriptive cross-sectional study was developed with pregnant women with GDM in a single gestation from April, 2011 to February, 2016. The data evaluated were the type of treatment used and the weight classification of the newborn. A total of 893 pregnant women were evaluated. Dietary and physical activity as sole therapy was used by 306 (34,3%), 366 (41%) needed metformin, the combination of metformin and insulin was necessary in 109 (12,2%) and only used insulin therapy (12,5%) pregnant women. There were 27 (3,0%) small for gestational age NB (SGA), 687 (76,9%) adequate for gestational age NB (AGA) and 179 (20,0%) large for gestational age NB (LGA). Metformin was the most used therapy and most of the newborns were AIG.

Desfechos materno-fetais de gestantes com e sem diabetes mellitus gestacional / Maternal-fetal outcomes of pregnant women with and without gestational diabetes mellitus

Objetivo: Comparar os desfechos materno-fetais de gestantes com e sem diabetes mellitus gestacional (DMG). Metodologia: Foi realizado um estudo tipo transversal. O grupo de estudo foi composto por gestantes com diagnóstico de diabetes gestacional e início de tratamento entre 13 e 33 semanas de gestação atendidas de abril de 2011 a fevereiro de 2016, comparado a outro grupo de gestantes sem DMG atendidas de setembro de 2016 a fevereiro de 2017. Os desfechos primários avaliados foram presença de doença hipertensiva específica da gestação (DHEG), via de parto, presença de recém-nascido (RN) pequeno (PIG) e grande (GIG) para a idade gestacional, necessidade de unidade de terapia intensiva (UTI), Apgars baixos e óbito fetal. A análise estatística foi realizada através do cálculo de regressão logística multinomial, com nível de significância de 95% ajustado para fatores de confusão. Resultado: Foram avaliadas 663 gestantes portadoras de DMG e 1409 sem DMG. Após a análise de razão de chance, prematuridade (0,629 IC 95% 0,410-0,966) e presença de RNs PIG (0,345 IC 95% 0,200-0,596) diminuíram no grupo de diabéticas. Registrou-se um aumento da chance de nascimentos por cesariana (2,343 IC 95% 1,914-2,869) e de RNs GIG (1,969 IC 95% 1,397-2,773). Nas demais complicações na gravidez, não houve alteração (DHEG, óbito fetal, Apgars baixos e necessidade de UTI). Conclusão: O diagnóstico e o tratamento de DMG na assistência perinatal apresentam impacto positivo na redução de prematuridade e da presença de RNs PIG, entretanto, notou-se um aumento de nascimentos por cesariana e de RNs GIG.

Objective: To compare maternal and fetal outcomes of pregnant women with and without gestational diabetes mellitus (GDM). Methodology: A cross-sectional study was performed. The study group consisted of pregnant women diagnosed with gestational diabetes and onset of treatment between 13 and 33 weeks of gestation attended from April 2011 to February 2016, compared to another group of pregnant women without GDM attended from September 2016 to February 2017. The primary outcomes evaluated were the presence of specific hypertensive disease of gestation (SHGD), mode of delivery, presence of small (SGA) and large (LGA) newborns for gestational age, need for intensive care (ICU), low Apgars and fetal death. Statistical analysis was performed by calculating multinomial logistic regression, with a significance level of 95% adjusted for confounding factors. Results: 663 pregnant women with GDM and 1409 without GDM were evaluated. After the odds ratio analysis, prematurity (0.629 95% CI 0.410-0.966) and presence of SGA infants (0.345 95% CI 0.200-0.596) decreased in the diabetic group. There was an increased chance of cesarean births (2.343 95% CI 1.914-2.869) and GIG newborns (1.969 95% CI 1.397-2.773). In other pregnancy complications, there was no change (SHGD, fetal death, low Apgars and need for ICU). Conclusion: Diagnosis and treatment of GDM in perinatal care have a positive impact on reducing prematurity and the presence of SGA infants, however, there was an increase in cesarean births and LGA infants.

Association between gestational weight gain, birth weight classification, and type of treatment in diabetic mothers / Associação entre ganho de peso gestacional, classificação de peso ao nascer e tipo de tratamento em mães diabéticas

The objective of the study was to identify the relationship between gestational weight gain, type of treatment used, and the weight of the baby at birth. This being an observational retrospective study, the primary outcomes evaluated were: the type of treatment used and the classification of the baby's weight at birth. Collection occurred from January 2013 to May 2015. Multivariate multinomial logistic regression models were used to calculate odds ratios. Of the 682 pregnant women, 393 (57.6%) had a weight gain that was less than adequate, 140 (20.5%) showed adequate weight gain, and 149 (21.9%) had a weight gain that was higher than adequate. Weight gain that was less than adequate did not correlate with treatment used or with birth weight classification; higher-than-adequate weight gain was also not associated with the type of treatment used but decreased the chance of having a child considered normal for its gestational age by 50% and doubled the chance of having child considered large for gestational age. Comparing the groups according to the weight gain by means of the odds ratio, no difference was found in the therapy used

O objetivo do estudo foi o de identificar qual a relação entre o ganho de peso gestacional, tipo de tratamento utilizado e peso do bebê ao nascer. Estudo retrospectivo observacional, os desfechos primários avaliados foram: tipo de tratamento utilizado e classificação de peso do bebê ao nascer. Coleta: janeiro de 2013 a maio de 2015. Modelos de regressão logística multivariada multinomial para cálculo de razão de chance. Das 682 gestantes, 393 (57.6%) tiveram um ganho de peso abaixo do adequado, 140 (20.5%) tiveram um ganho de peso adequado e 149 (21.9%) tiveram um ganho de peso acima. O ganho de peso abaixo do adequado não apresentou relação com tratamento utilizado ou na classificação de peso do bebê ao nascer, o ganho de peso acima do adequado também não apresentou associação com o tratamento utilizado, porém diminuiu a chance de ter um filho adequado para a idade gestacional em 50% e dobrou a de ter um filho grande para a idade gestacional. Comparando os grupos, conforme o ganho de peso através da razão de chance, não foi encontrada diferença na terapêutica utilizada

Dyslipidemia and maternal obesity: Prematurity and neonatal prognosis.

OBJECTIVE: To identify the changes caused by dyslipidemia and obesity in pregnancy suggesting causes for premature birth, and the prognosis for the newborn. METHOD: Systematic review based on the Medline, Lilacs, Embase and Cochrane library databases between 1996 and 2016. The search for studies included the following keywords: "dyslipidemia, pregnancy, obesity, preterm birth." A protocol was programmed and a protocol for inclusion/exclusion of studies was implemented. RESULTS: Of the 5,789 articles initially selected between March 1996 and July 2016, only 32 were in accordance with the established criteria. Of these, 28.12% discussed risk factors of prematurity; 37.50%, metabolic alterations and gestational dyslipidemia; 21.87%, dyslipidemic complications in preterm birth; and 12,50%, lipid metabolism, glycemic and placental transfer. CONCLUSION: There is a reduced adaptation of obese pregnant women to the metabolic changes of gestation. This favors dyslipidemic intercurrences in the mother, which, directly or indirectly, suggests the occurrence of premature births and high lipid transfer to the fetus. Therefore, preterm newborns, whose mothers were dyslipidemic during pregnancy, have greater risk of epicardial fat, both in early (first year of life) and in later (adult) phases of life.

Dyslipidemia and maternal obesity: Prematurity and neonatal prognosis / Dislipidemia e obesidade materna: prematuridade e prognóstico neonatal

Summary Objective: To identify the changes caused by dyslipidemia and obesity in pregnancy suggesting causes for premature birth, and the prognosis for the newborn. Method: Systematic review based on the Medline, Lilacs, Embase and Cochrane library databases between 1996 and 2016. The search for studies included the following keywords: "dyslipidemia, pregnancy, obesity, preterm birth." A protocol was programmed and a protocol for inclusion/exclusion of studies was implemented. Results: Of the 5,789 articles initially selected between March 1996 and July 2016, only 32 were in accordance with the established criteria. Of these, 28.12% discussed risk factors of prematurity; 37.50%, metabolic alterations and gestational dyslipidemia; 21.87%, dyslipidemic complications in preterm birth; and 12,50%, lipid metabolism, glycemic and placental transfer. Conclusion: There is a reduced adaptation of obese pregnant women to the metabolic changes of gestation. This favors dyslipidemic intercurrences in the mother, which, directly or indirectly, suggests the occurrence of premature births and high lipid transfer to the fetus. Therefore, preterm newborns, whose mothers were dyslipidemic during pregnancy, have greater risk of epicardial fat, both in early (first year of life) and in later (adult) phases of life.

Resumo Objetivo: Identificar as alterações provocadas pela dislipidemia e pela obesidade na gestação que sugerem causas de partos prematuros e o prognóstico para o recém-nascido. Método: Revisão sistemática nas bases de dados Medline, Lilacs, Embase e da biblioteca Cochrane entre os anos de 1996 e 2016. O processo de seleção ocorreu a partir dos descritores dislipidemia, gravidez, obesidade, nascimento prematuro. Um protocolo foi programado, havendo uma etapa seletiva de inclusão/exclusão das pesquisas. Resultados: Dentre os 5.789 artigos inicialmente selecionados entre março e julho de 2016, somente 32 estavam de acordo com os critérios estabelecidos. Desses, 28,12% focavam nos fatores de risco da prematuridade; 37,50%, em alterações metabólicas e dislipidemia gestacional; 21,87%, em intercorrências dislipidêmicas no parto prematuro; 12,50%, em metabolismo lipídico, glicêmico e transferências pela placenta. Conclusão: Existe uma menor adaptação da gestante obesa às mudanças metabólicas da gestação, favorecendo intercorrências dislipidêmicas na mãe, o que, direta ou indiretamente, sugere a ocorrência de partos prematuros e uma elevada transferência de lipídios para o feto. Portanto, recém-nascidos prematuros de mães dislipidêmicas durante a gravidez apresentam maior risco de desenvolver gordura epicárdica tanto na fase precoce (primeiro ano de vida) quanto na tardia (vida adulta).

As influências da raça/cor nos desfechos obstétricos e neonatais desfavoráveis / The influences of race/color on unfavorable obstetric and neonatal outcomes

RESUMO Trata-se de um estudo transversal, que avaliou as influências da raça/cor nos desfechos obstétricos e neonatais desfavoráveis. Foram construídos modelos de regressão logística para cálculo de razão de chance e exame do risco materno e neonatal. As gestantes negras prevaleceram com significância estatística entre aquelas com baixa escolaridade, hipertensão prévia, três ou mais filhos vivos e com ocupação. As gestantes negras não apresentaram maior risco nos desfechos desfavoráveis. A raça/cor não se comporta como um marcador genético ou biológico, mas como construto social, que pode influenciar as condições de saúde enquanto determinante social.

ABSTRACT This is a cross-sectional study, which evaluated race/color influences on unfavorable obstetric and neonatal outcomes. Logistic regression models were constructed to calculate the odds ratio and to examine maternal and neonatal risk. Black pregnant women prevailed with statistical significance among those with low schooling, previous hypertension, three or more living children and with occupation. Black pregnant women presented no greater risk in unfavorable outcomes. Race/color does not behave as a genetic or biological marker, but as a social construct, which can influence health conditions as a social determinant.

Predictors of cesarean delivery in pregnant women with gestational diabetes mellitus / Preditores de cesariana em gestantes com diabetes mellitus gestacional

Abstract Purpose The aim of this study was to evaluate which risk factors may lead patients with gestational diabetes mellitus to cesarean delivery. Methods This was a retrospective, descriptive study. The subjects of the study were pregnant women with gestational diabetes mellitus attending a public maternity hospital in the south of Brazil. The primary outcomes assessed were based on maternal and fetal characteristics. The data were correlated using an odds ratio (OR) with a 95% confidence interval (95%CI), calculated using multinomial logistic regression. Results A total of 392 patients with gestational diabetes mellitus were analyzed, and 57.4% of them had cesarean deliveries. Among the maternal characteristics, the mean age of the patients and the pregestational body mass index were greater when a cesarean delivery was performed (p = 0.029 and p < 0.01 respectively). Gestational age at birth, newborn weight, weight class according to gestational age, and Apgar score were not significant. The analysis of the OR showed that the chance of cesarean delivery was 2.25 times (95%CI = 1.49-2.39) greater if the pregnant woman was obese, 4.6 times (95%CI = 3.017-7.150) greater if she was a primigravida, and 5.2 times (95% CI = 2.702-10.003) greater if she had a previous cesarean delivery. The other parameters analyzed showed no differences. Conclusion The factors that led to an increase in the occurrence of cesarean deliveries included history of a prior cesarean section, first pregnancy, and obesity.

Resumo Objetivo O objetivo deste trabalho é avaliar quais os fatores de risco que podem levar pacientes com diabetes mellitus gestacional ao parto cesáreo. Métodos Trata-se de um estudo retrospectivo descritivo. Foram sujeitos do estudo gestantes portadoras de diabetes mellitus gestacional atendidas em uma maternidade pública do Sul do Brasil. Os desfechos primários avaliados foram baseados em características maternas e fetais. Os dados foram relacionados por meio da razão de chance (RC) com intervalo de confiança de 95% (IC95%), calculado por meio da regressão logística multinominal. Resultados Foram analisadas 392 pacientes com diabetes mellitus gestacional, das quais 57,4% tiveram o parto realizado por via cesariana. Dentre as características maternas, a idade média das pacientes e o índice de massa corporal pré-gestacional forammaiores nas ocasiões emque o parto cesáreo foi realizado (p = 0,029 e p < 0,01, respectivamente). Idade gestacional do parto, peso do recém-nascido, classe de peso de acordo com a idade gestacional e o Apgar não foram significativos. Analisando a RC, o fato de a gestante: ser obesa resultou em chance de parto cesáreo 2,25 (IC95% = 1,49- 2,39) vezes maior; ser primigesta resultou em chance de parto cesáreo 4,6 (IC95% = 3,017-7,150) vezes maior; e apresentar história de cesárea prévia resultou em 5,2 (IC95% = 2,702-10,003) vezes mais chance de ter uma nova cesárea. Os outros parâmetros analisados não apresentaram diferença. Conclusão Entre os fatores que acarretam aumento da ocorrência de nascimento por via cesariana, encontram-se: história de cesárea anterior, primeira gravidez e obesidade.