Morgagni's diaphragmatic hernia mimicking a severe congenital heart disease in a newborn: a case report

<p>Abstract</p> <p>Introduction</p> <p>Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation.</p> <p>Case presentation</p> <p>We report the case of a three-month-old Caucasian baby boy, who presented with heart failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the chest led to an incorrect diagnosis of congenital heart disease.</p> <p>Conclusions</p> <p>Even in this era of highly sophisticated diagnostic tools, a simple radiograph can provide sufficient information for a precise, rapid diagnosis.</p

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome

The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors. It was a prospective study of a birth cohort of children with DS born between 2003 and 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). A CHD occurred in 43% of 482 children with trisomy 21. Atrioventricular septal defect was found in 54%, ventricular septal defect in 33.3% and patent ductus arteriosus in 5.8%. The incidence of PPHN in DS was 5.2%, which is significantly higher than the general population (p < 0.001). The reported mortality in newborns with DS was overall 3.3% and was still significant higher in children with a CHD versus no CHD (5.8% versus 1.5%) (p = 0.008). The presence of CHD in children with DS had no influence on their birth weight, mean gestational age and Apgar score. In neonates with DS, we found not only a 43% prevalence of CHD, but also a high incidence of PPHN at 5.2%. Early recognition of the cardiac condition of neonates with DS seems justified

Congenital anomalies in newborns to women employed in jobs with frequent exposure to organic solvents - a register-based prospective study

<p>Abstract</p> <p>Background</p> <p>The foetal effects of occupational exposure to organic solvents in pregnancy are still unclear. Our aim was to study the risk of non-chromosomal congenital anomalies at birth in a well-defined population of singletons born to women employed as painters and spoolers in early pregnancy, compared to women in non-hazardous occupations.</p> <p>Method</p> <p>The study population for this prospective cohort study was singleton newborns delivered to working mothers in the industrial community of Mončegorsk in the period 1973-2005. Occupational information and characteristics of the women and their newborns was obtained from the local population-based birth register.</p> <p>Results</p> <p>The 597 women employed as painters, painter-plasterers or spoolers had 712 singleton births, whereof 31 (4.4%) were perinatally diagnosed with 37 malformations. Among the 10 561 newborns in the group classified as non-exposed, 397 (3.9%) had one or more malformations. The overall prevalence in the exposed group was 520/10 000 births [95% confidence limits (CL): 476, 564], and 436/10 000 births (95% CL: 396, 476) in the unexposed. Adjusted for young maternal age, smoking during pregnancy, maternal congenital malformation and year of birth, the odds ratio (OR) was 1.24 (95% CL: 0.85, 1.82); for multiple anomalies it was 1.54 (95% CL: 0.66, 3.59).</p> <p>The largest organ-system specific difference in prevalence between the two groups was observed for malformations of the circulatory system: 112/10 000 (95% CL: 35, 190) in the exposed group, and 42/10 000 (95% CL: 29, 54) in the unexposed, with an adjusted OR of 2.03 (95% CL: 0.85, 4.84). The adjusted ORs for malformations of the genital organs and musculoskeletal system were 2.24 (95% CI: 0.95, 5.31) and 1.12 (95% CI: (0.62, 2.02), respectively.</p> <p>Conclusion</p> <p>There appeared to be a higher risk of malformations of the circulatory system and genital organs at birth among newborns to women in occupations with organic solvent exposure during early pregnancy (predominantly employed as painters). However, the findings were not statistically conclusive. Considering that these two categories of malformations are not readily diagnosed perinatally, the difference in prevalence between the exposed and unexposed may have been underestimated.</p

Congenital diaphragmatic hernia and retinoids: searching for an etiology

Congenital diaphragmatic hernia (CDH) is a major life-threatening cause of respiratory failure in the newborn. Recent data reveal the role of a retinoid-signaling pathway disruption in the pathogenesis of CDH. We describe the epidemiology and pathophysiology of human CDH, the metabolism of retinoids and the implications of retinoids in the development of the diaphragm and lung. Finally, we describe the existing evidence of a disruption of the retinoid-signaling pathway in CDH

Risk Factors for Congenital Cryptorchidism in a Prospective Birth Cohort Study

Background: Risk factors for congenital cryptorchidism were investigated in a prospective birth cohort study in Denmark and Finland from 1997 to 2001. Methodology and Principal Findings: In total, 2,496 boys were examined for cryptorchidism at birth (cryptorchid/healthy: 128/2,368) and three months old (33/2,215). Information on risk factors was obtained antenatally (questionnaire/interview) or at birth from birth records. Use of nicotine substitutes during pregnancy (n = 40) and infertility treatment by intrauterine insemination (n = 49) were associated with an increased risk for cryptorchidism, adjusted odds ratio (95 % confidence interval) (OR (95%CI)) 3.04 (95%CI 1.00–9.27) and 3.01 (95%CI 1.27–7.15), respectively. No association was seen for mothers (n = 79) who had infertility treatment in form of intracytoplasmic sperm injection (ICSI) or in vitro fertilization (IVF) treatment (OR 0.71 95%CI 0.21–2.38). In total, 728 (29%) reported to have smoked during pregnancy, however, no increased risk among maternal smokers was found. Furthermore, we found statistically significant associations between cryptorchidism and low birth weight, prematurity, being small for gestational age, substantial vaginal bleeding, and breech presentation, which are in accordance with other studies. Conclusions and Significance: Our study revealed two novel risk factors for cryptorchidism: intrauterine insemination and the use of nicotine substitutes in pregnancy. This suggests that cryptorchidism may not only be associated to geneti

Fine Mapping of the NRG1 Hirschsprung's Disease Locus

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease. Through a genome-wide association study, we uncovered a ∼350 kb HSCR-associated region encompassing part of the neuregulin-1 gene (NRG1). To identify the causal NRG1 variants contributing to HSCR, we genotyped 243 SNPs variants on 343 ethnic Chinese HSCR patients and 359 controls. Genotype analysis coupled with imputation narrowed down the HSCR-associated region to 21 kb, with four of the most associated SNPs (rs10088313, rs10094655, rs4624987, and rs3884552) mapping to the NRG1 promoter. We investigated whether there was correlation between the genotype at the rs10088313 locus and the amount of NRG1 expressed in human gut tissues (40 patients and 21 controls) and found differences in expression as a function of genotype. We also found significant differences in NRG1 expression levels between diseased and control individuals bearing the same rs10088313 risk genotype. This indicates that the effects of NRG1 common variants are likely to depend on other alleles or epigenetic factors present in the patients and would account for the variability in the genetic predisposition to HSCR