Acta Medica Port
-
Case Reports
Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.
Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. ⋯ Post-natal whole exome sequencing revealed biallelic pathologic variants in the COQ2 gene which encodes an enzyme that is part of coenzyme Q10 (COQ10 or ubiquinone) pathway and is involved in the biosynthesis of CoQ, a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This case underscores the heterogeneity of the prenatal phenotypic presentation of pathogenic variants in the COQ2, namely lissencephaly.
-
Contraception in adolescence is essential to prevent unwanted pregnancies, abortion and sexually transmitted diseases. The use of longacting reversible contraceptive methods (LARCs) has been highly recommended due to their efficacy since they are user independent methods. The aim of this study was to evaluate the use of LARCs in adolescence in the population of a Childhood and Adolescence Gynecology clinic, and to describe the sociodemographic characteristics of the adolescents as well as previous contraceptive practices. ⋯ Contraceptive needs were the main reason for choosing LARCs, followed by abnormal uterine bleeding during puberty management and dysmenorrhea. All these factors may contribute to the high rate of satisfaction and continuity of these methods.
-
Observational Study
Prevalence and Predictive Factors of Exclusive Breastfeeding in the First Six Months of Life.
Exclusive breastfeeding (EBF) is currently recommended until six months of age. The Baby-friendly Hospital (BFH) initiative an international program to promote breastfeeding, was launched in Portugal in 1994. The aim of this study was to identify the prevalence and factors influencing breastfeeding in the first six months of life and to compare the results with a study carried out in 1999 including population from the same geographic area. ⋯ Our results are in agreement with previously reported causes of breastfeeding discontinuation and emphasize the importance of sociocultural factors. Compared with 1999, the breastfeeding rates in this Portuguese population increased significantly at three and six months. However, it is still necessary to improve in order to achieve the World Health Organization global target.
-
Even though it is a rare condition, hereditary spherocytosis (EH) is the main inherited cause of haemolytic anaemia and presents with a broad spectrum of symptoms. In the few reported cases of pregnancy and EH, maternal and foetal outcomes are controversial. Particularly, reports of pregnancies with EH associated with thrombosis or portal hypertension are scarce. ⋯ Concerning the foetus, late-onset foetal growth restriction was diagnosed but did not determine preterm delivery. Five weeks post-partum after an episode of acute abdominal pain, mesenteric venous thrombosis was diagnosed. In this case report, we describe our experience in managing pregnancy, labour and post-partum of a woman with EH, highlighting potential complications of this condition.