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1.
Artículo en Inglés | MEDLINE | ID: mdl-36580112

RESUMEN

The present systematic review aims to assess the psychological adjustment of children born through assisted reproductive technologies (ARTs) and to screen for clinical problems when compared with normative data from the standardized indexes of mental health. Following PRISMA guidelines, the search was conducted from inception through September 2021 using APA PsycInfo, APA PsycArticles, Psychology and Behavioural Sciences Collection, Academic Search Complete, Pubmed, Scopus, Web of Science, Scielo, and RCAAP. Search terms related to ART and children's psychological adjustment were combined to Boolean operators to identify relevant published studies in English, French, Italian, Portuguese and Spanish. Peer-reviewed studies focused on the psychological adjustment of ART children aged between the 3 and 11 years were included. From a total of 337 results, 45 papers were eligible to be included in this review. Data extraction was performed independently by two authors and revised and confirmed by other two authors. All children scored below the clinical range for psychiatric symptoms when compared with normative data for the Strengths and Difficulties Questionnaire (SDQ) or the Achenbach System of Empirically Based Assessment (ASEBA), regardless of type of ART and different family configurations. Further, some evidence suggests that surrogacy children with gay fathers present the lowest levels of psychological problems when compared to normative data. These findings enable practitioners to develop an informed view of ART children mental health outcomes to help parents find more adaptive strategies to navigate their chosen pathways in healthier ways.

2.
J Clin Endocrinol Metab ; 106(4): 1084-1090, 2021 03 25.
Artículo en Inglés | MEDLINE | ID: mdl-33382423

RESUMEN

CONTEXT: Mitchell-Riley syndrome due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. The RFX6 gene encodes a transcription factor involved in enteroendocrine cell differentiation required for beta-cell maturation. In contrast to the pathway by which RFX6 mutations leads to diabetes, the mechanisms underlying protracted diarrhea are unknown. OBJECTIVE: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of Mitchell-Riley syndrome protracted diarrhea. METHODS: Two case report descriptions. in a tertiary pediatric hospital. "Off-label" treatment with liraglutide. We describe 2 children diagnosed with Mitchell-Riley syndrome, presenting neonatal diabetes and protracted diarrhea. Both patients had nearly undetectable GLP-1 plasma levels and absence of GLP-1 immunostaining in distal intestine and rectum. The main outcome was to evaluate whether GLP-1 analogue therapy could improve Mitchell-Riley syndrome protracted diarrhea. RESULTS: "Off-label" liraglutide treatment, licensed for type 2 diabetes treatment in children, was started as rescue therapy for protracted intractable diarrhea resulting in rapid improvement during the course of 12 months. CONCLUSION: Congenital GLP-1 deficiency was identified in patients with Mitchell-Riley syndrome. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.


Asunto(s)
Diabetes Mellitus/etiología , Diarrea/etiología , Enfermedades de la Vesícula Biliar/etiología , Péptido 1 Similar al Glucagón/deficiencia , Atresia Intestinal/etiología , Niño , Consanguinidad , Diabetes Mellitus/sangre , Diabetes Mellitus/congénito , Diabetes Mellitus/genética , Diarrea/sangre , Diarrea/congénito , Resultado Fatal , Femenino , Enfermedades de la Vesícula Biliar/sangre , Enfermedades de la Vesícula Biliar/congénito , Péptido 1 Similar al Glucagón/sangre , Péptido 1 Similar al Glucagón/fisiología , Encefalopatía Hepática/genética , Encefalopatía Hepática/patología , Humanos , Lactante , Atresia Intestinal/sangre , Mutación Missense , Portugal , Factores de Transcripción del Factor Regulador X/genética
4.
Fetal Diagn Ther ; 43(3): 218-225, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-28787718

RESUMEN

BACKGROUND: Antenatal therapy with high-dose intravenous immunoglobulin (IVIG) may prevent gestational alloimmune liver disease (GALD). OBJECTIVE: The objective of this study was to determine the effectiveness of this approach in a large cohort of women at risk for poor pregnancy outcome due to GALD. METHODS: Women with a history of affected offspring were provided antenatal IVIG treatment and data were acquired prospectively from 1997 to 2015. The outcomes of treated pregnancies were compared to those of untreated pregnancies, and the effectiveness of starting at 14 weeks was compared to that of starting at 18 weeks. RESULTS: A total of 188 treated pregnancies in 151 women were analyzed. Only 30% (n = 105) of untreated gestations resulted in healthy offspring as compared to 94% (n = 177) of treated pregnancies (p < 0.0001). Treated gestations of both the 14-week (n = 108) and the 18-week (n = 80) start cohort showed a decreased rate of fetal loss relative to untreated gestations (p < 0.0001). Equivalent outcomes were recorded in the 18-week versus the 14-week start cohort (p > 0.05). Few adverse events or complications of antenatal therapy were recorded. CONCLUSION: Antenatal therapy with high-dose IVIG initiated at either 18 or 14 gestational weeks effectively prevents poor outcome of pregnancies at risk for GALD.


Asunto(s)
Hemocromatosis/prevención & control , Inmunoglobulinas Intravenosas/administración & dosificación , Factores Inmunológicos/administración & dosificación , Femenino , Humanos , Inmunoglobulinas Intravenosas/efectos adversos , Factores Inmunológicos/efectos adversos , Embarazo , Resultado del Embarazo , Resultado del Tratamiento
5.
Clin Nutr ESPEN ; 22: 7-12, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-29415837

RESUMEN

BACKGROUND: Cholestasis is a common complication in infants receiving prolonged parenteral nutrition (PN). We studied the effects of two intravenous lipid emulsions composed with either 30% soybean oil, 30% medium-chain triglycerides (MCT), 25% olive oil, and 15% fish oil (SMOF) or with 50% MCT and 50% soybean oil n-6 (MCT/SOY) on the incidence of cholestasis in surgical term and near-term neonates. METHODS: A single-center, double-blinded, randomized controlled trial compared the incidence of cholestasis using either SMOF or MCT/SOY in neonates born at gestational age ≥34 weeks undergoing major surgery. The primary outcome was the incidence of conjugated serum bilirubin >1 mg/dL. Other liver enzymes were assessed as secondary outcomes. A post-hoc analysis assessed serum triglycerides levels. Odds ratios were estimated by mixed-effects regression models. RESULTS: Enrollment was prematurely interrupted because the MCT/SOY became unavailable, thus 49 infants (SMOF 22, MCT/SOY 27) completed the study. The exposure (time on PN, cumulative dose of lipids) was similar in both groups. Similar cumulative incidence rates were found for elevated conjugated bilirubinemia and other liver enzymes. Hypertriglyceridemia >250 mg/dL (12/49) was more frequent in MCT/SOY (37.0%, 95% CI 21.53-55.77) than in SMOF (9.1%, 95% CI 2.53-27.81, p = 0.024). Triglyceridemia at the first assessment (median 8 postnatal days) was significantly higher with MCT/SOY than with SMOF (181 vs. 134 mg/dL, p = 0.006). Over the whole study period, mean triglyceride concentration was 36.5 mg/dL higher with MCT/SOY compared with SMOF (p = 0.013). CONCLUSION: Both emulsions had similar effects on the incidence of cholestasis and markers of liver integrity, but MCT/SOY induced higher serum triglyceride concentrations. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02633384.


Asunto(s)
Colestasis/diagnóstico , Emulsiones Grasas Intravenosas/administración & dosificación , Hipertrigliceridemia/diagnóstico , Nutrición Parenteral/efectos adversos , Bilirrubina/sangre , Colestasis/sangre , Colestasis/inducido químicamente , Método Doble Ciego , Femenino , Aceites de Pescado/administración & dosificación , Humanos , Hipertrigliceridemia/inducido químicamente , Hipertrigliceridemia/etiología , Recién Nacido , Masculino , Aceite de Oliva/administración & dosificación , Proyectos Piloto , Aceite de Soja/administración & dosificación , Triglicéridos/sangre
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