The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk.

Food allergy-related paediatric constipation: the usefulness of atopy patch test.

The aims of this study were to evaluate the implication of food allergy as a cause of paediatric constipation and to determine the diet period needed to tolerate the constipation-causing foods. Fifty-four children aged 6 months to 14 years (median, 42 months) suffering from chronic constipation (without anatomic abnormalities, cοeliac disease or hypothyroidism), unresponsive to a 3-month laxative therapy, were prospectively evaluated. All participants were evaluated for allergy to cow's milk, egg, wheat, rice, corn, potato, chicken, beef and soy, using skin tests (SPT), serum specific IgE and atopy patch test (APT).

Coinheritance of Noonan syndrome and Becker muscular dystrophy.

We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene.

The clinical pattern of group C streptococcal pharyngitis in children.

Group A streptococcal pharyngitis of is a common infectious disease with a well-recognized clinical pattern, as opposed to that attributed to group C assault. The aim of this study was to identify the clinical features of group C streptococcal pharyngitis in children. In total, 144 children participated in the study, consisting of three distinct categories.

Long-term follow-up of a multifocal hepatic mesenchymal hamartoma producing a-fetoprotein.

We here present a 6-month-old girl with cystic hepatic mesenchymal hamartoma and elevated a-fetoprotein (aFP). Following hepatectomy of the left lobe and partial right lobectomy, decline of the serum aFP was observed. The child has been well for 20 years and it is one among a few cases with such a long observational period.

UGT1A1 promoter polymorphism as a predisposing factor of hyperbilirubinaemia in neonates with acute pyelonephritis.

We describe 4 jaundiced neonates with acute pyelonephritis of whom family history was positive for or pointed to Gilbert's syndrome (GS). Uridine diphosphate glucuronosyltransferase 1A1 (UGT-1A1), (TA)7 polymorphism, associated with GS was found in these neonates. We suggest that extended (TA)7 promoter, acting as a predisposing factor, contributes substantially to hyperbilirubinaemia seen in a number of neonates with urinary tract infections (UTIs).