PURPOSE:We present a case-control study of seven polymorphisms of six genes involved in homocysteine/folate pathway as risk factors for Down syndrome. Gene-gene/allele-allele interactions, haplotype analysis and the association with age at conception were also evaluated. METHODS: We investigated 94 Down syndrome-mothers and 264 control-women from Campania, Italy. RESULTS: Increased risk of Down syndrome was associated with the methylenetetrahydrofolate reductase (MTHFR) 1298C allele (OR 1.46; 95% CI 1.02-2.10), the MTHFR 1298CC genotype (OR 2.29; 95% CI 1.06 -4.96), the reduced-folate-carrier1 (RFC1) 80G allele (1.48; 95% CI 1.05-2.10) and the RFC1 80 GG genotype (OR 2.05; 95% CI 1.03-4.07). Significant associations were found between maternal age at conception Ն34 years and either the MTHFR 1298C or the RFC 180G alleles. Positive interactions were found for the following genotype-pairs: MTHFR 677TT and 1298CC/CA, 1298CC/CA and RFC1 80 GG/GA, RFC1 80 GG and methylenetetrahydrofolate-dehydrogenase 1958 AA. The 677-1298 T-C haplotype at the MTHFR locus was also a risk factor for Down syndrome (P ϭ 0.0022). The methionine-synthase-reductase A66G, the methionine-synthase A2756G and the cystathionine-beta-synthase 844ins68 polymorphisms were not associated with increased risk of Down syndrome. CONCLUSION: These results point to a role of maternal polymorphisms of homocysteine/folate pathway as risk factors for Down syndrome. Genet Med 2006:8(7):409-416.

No abstract

Background: Clinical and radiographic criteria are traditionally used to determine the need for surfactant therapy in preterm infants. Lung ultrasound is a bedside test that offers a rapid, radiation-free, alternative to this approach.Objective: To conduct a systematic review and meta-analysis to determine the accuracy of a lung ultrasound score (LUS) in identifying infants who would receive at least one surfactant dose. Secondary aims were to evaluate the predictive accuracy for ≥2 doses and the accuracy of a different image classification system based on three lung ultrasound profiles.Methods: PubMed, SCOPUS, Biomed Central, and the Cochrane library between January 2011 and December 2021 were searched. Full articles enrolling preterm neonates who underwent lung ultrasound to predict surfactant administration were assessed and analyzed following Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) and QUADAS-2 guidelines.Results: Seven prospective studies recruiting 697 infants met the inclusion criteria.Risk of bias was generally low. Oxygen requirement, clinical and radiographic signs of respiratory distress syndrome were used as reference standards for surfactant replacement. The summary receiver operator characteristic (sROC) curve for LUS predicting first surfactant dose showed an area under the curve (AUC) = 0.88 (95% confidence interval [CI]: 0.82-0.91); optimal specificity and sensitivity (Youden index) were 0.83 and 0.81 respectively. Pooled estimates of sensitivity, specificity, diagnostic odds ratio, negative predictive value, and positive predictive value for LUS predicting the first surfactant dose were 0.

Background and Aim: Cytomegalovirus (CMV) is the main cause of congenital infection in developed countries leading to deafness but the burden of sensorineural hearing loss (SNHL) in asymptomatic children remains incompletely characterized. Aim of this study was to evaluate the long-term audiological outcome in this group of patients.Methods: Consecutive neonates with congenital CMV infection were followed from 2002 to 2018. Patients were considered asymptomatic if free from any clinical and instrumental impairment at referral and underwent serial clinical exams, audiological evaluations and CMV-PCR determinations.Results: A cohort of 258 children was analyzed and the disease onset was asymptomatic in 125 (48%) infants. Among these, we studied 102 patients with a follow-up longer than 1 year and a median observation period of 2.8 years (range: 1-10.3 years). No patient developed a stable delayed SNHL but only 14 (14%) presented a variable hearing impairment, seven of which bilateral. The unstable SNHL was mild in 12 infants and moderate in two. Patients with fluctuating SNHL had significantly higher urine viral load (p 0.002) and more often positive viremia (p 0.015) than babies with stable normal hearing.Conclusions: CMV infected, asymptomatic neonates have a low risk of transient SNHL later in infancy. Positive viremia and high urine viral load at onset are significant risk factors for delayed fluctuating SNHL. These data are relevant for an appropriate follow up plan of these patients.

No abstract