Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Mutations in SPTAN1 gene, encoding the nonerythrocyte αII-spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disability (ID) or ID with cerebellar syndrome. A certain genotype-phenotype correlation has been proposed according to the type and location of the mutation. Herein, we report three novel cases with de novo SPTAN1 mutations, one of them associated to a mild phenotype not previously described.

[Familial presentation of microdeletion and inverted microduplication with array-CGH].

INTRODUCTION. Over the years the field of genetics has advanced significantly. Following the polymerase chain reaction and mass sequencing techniques, the array-CGH technique (comparative genomic hybridization) has helped to improve genetic procedures.

[Epidemiological surveillance of vertically-transmitted Chagas disease at three maternity hospitals in the Valencian Community].

Introduction And Aim: Immigration to Spain of Latin Americans with Chagas disease in its indeterminate phase could result in vertical transmission of the disease or transmission by transfusion or organ transplantation. To ascertain the magnitude of this problem, we investigated the prevalence of bearers among women who gave birth in 3 state maternity hospitals in the Valencian Community and the incidence of vertical transmission.

Patients And Methods: An immunoprecipitation test to detect anti-Trypanosoma cruzi antibodies was carried out on 624 pregnant Latin American women.

Full breastfeeding and hospitalization as a result of infections in the first year of life.

Objective: Our objective was to assess the effect of breastfeeding on the probability of hospitalization as a result of infectious processes during the first year of life

Methods: We followed 1385 infants from birth to age 1 year between 1996 and 1999. Recruitment and data collection were done at the 6-month well-infant visit under the National Child Health Program. Full breastfeeding, hospital admission, and other relevant variables related to the delivery, infant, mother, health services system, and sociologic aspects were recorded.