Search results for "congenital malformation"
showing 10 items of 21 documents
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
2017
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infu…
Use of long acting injectable aripiprazole before and through pregnancy in bipolar disorder: a case report
2019
Abstract Background Long-acting injectable (LAI) antipsychotics for psychotic disorders provide advantages in treatment compliance, but data on their use in pregnancy are very limited. We present a clinical case of aripiprazole LAI use in pregnancy. Case presentation A 43-year-old woman diagnosed with bipolar disorder, with several relapses due to treatment interruption while trying to conceive. Finally, aripiprazole LAI treatment was planned by mutual agreement between doctor and the patient, who took aripiprazole LAI before and during pregnancy. She gave birth at 40 weeks to a 3500 g baby girl with no congenital malformations, who was healthy at 5 months after delivery. Conclusion As far …
Experts' assessment of probability and level of pesticide exposure in agricultural workers.
2000
The occupational history of the parents of 261 infants with congenital malformations and 261 matched controls was collected. During the relevant time period before the birth of their child, 183 parents were involved in agricultural activities, 49% of them having directly applied pesticides. Two experts assessed the probability and the level of exposure to each quoted pesticide (582 observations) by using 4-point scales. Interrater agreement was estimated. Kappa-weighted values for probability and level of exposure were, respectively, kappa = 0.36 and kappa = 0.39. In the analysis of some categories of exposure (non-applicators, herbicides) very low interrater agreement was observed. In epid…
Female pelvic congenital malformations
2011
A B S T R A C T The second part of this review deals with the quality of life of patients with congenital pelvic malformations, focusing on the sexuality, reproductive outcomes and overall psychological impact of the women affected. The presence of deformed pelvic anatomy, congenital or iatrogenic, and therefore of altered urinary, anal or sexual functions, are not only a physical limitation but seriously compromise psychological health from childhood. These difficulties jeopardise the thorny path from childhood to adult life through adolescence, and if neglected, could be responsible for seriously impairing quality of life in adulthood, in terms of mental health and psychosocial functions.…
Dydrogesterone use during pregnancy: Overview of birth defects reported since 1977
2009
Between 1977 and 2005, 28 cases of potential links between maternal dydrogesterone use during pregnancy and congenital birth defects were reported. The types of defects were very diverse, with no evidence of a pattern of abnormalities. The data do not provide evidence for congenital malformations associated with dydrogesterone use.
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
2013
Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…
Devenir des enfants issus des techniques d’assistance médicale à la procréation
2013
Since the birth of the first baby conceived by in vitro fertilization (IVF) 30 years ago (Louise Brown in 1978), there has been a rapid and constant increase in the number of couples using assisted reproductive technologies (ART). Around four million of children have been born from couples experiencing fertility problems, through the use of ART, comprising roughly 2-3 % of all births in Europe and U.S. That highlights that these modes of fertilization are now well assumed by our societies. However, several questions on health of these children remain to be elucidated. As evoked in this review, even if methodological limitations exist, numerous studies have reported increased risks of birth …
Complications in Craniovertebral Junction Instrumentation: Hardware Removal Can Be Associated with Long-Lasting Stability. Personal Experience
2017
Background The causes of craniovertebral junction (CVJ) instabilities include trauma, rheumatological diseases, tumors, infections, congenital malformations, and degenerative disease processes; these complex pathologies often require CVJ instrumentation. Hardware complications were analyzed in a personal series of 48 treated patients. In light of the analysis of very unusual radiological and clinical findings, the authors tried to better investigate the related mechanisms and to reach possible useful conclusions. Methods In a series of 48 patients who underwent CVJ instrumentation and fusion procedures in our Institution, we describe three cases of hardware failure, due to: (1) infection; (…
Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study
2013
Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…