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In our case, the malformation was diagnosed prenatally at 40 weeks of gestation, and at the age of 14 days, the malformation was removed combined with a segmentectomy of the sixth segment of the left lung. Preoperative diagnostics focus on 3D-CT reconstruction and detailing of the anatomical variations of all arterial and venous vessels, as evident from our case. Treatment includes surgical removal or a minimally invasive interventional approach through the embolization of the vessel afferent to the malformation. After the operation, the child was discharged on the 30th day after birth in good condition and is developing normally. Early operative intervention is of great importance for the favorable outcome of the condition. In our case, this was hypoxemia with a saturation of 70-75%. The rare and often missed prenatal diagnosis of fetal AV malformation is significant for the adequate postnatal treatment and development of affected children. [ABSTRACT FROM AUTHOR]

Kawasaki disease (KD) is a childhood vasculitis syndrome and the coronary arteries are the main target of the vascular damage. The outcome is formation of coronary lesions (CL) that develop in 20%–25% of untreated children. KD is the leading cause of myocardial infarction in infancy. Its consequences among young people are acute coronary syndrome and susceptibility to early atherosclerosis, if the disease were to remain unrecognized. We investigated the cardiac manifestations during the acute phase of the disease, the values of the fever, C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) and the therapeutic factors that created increased coronary risk in our cohort of patients. The study is retrospective (1993–2014). In the cohort (n= 107), 30.8% had coronary lesions, including 19.6% coronary aneurysms and 11.2% significant dilatations. We found association between myocarditis, papillary and left ventricular dysfunction in the acute phase of KD and the risk of coronary aneurysms (p< 0.001). The expressively elevated CRP levels and the persistent fever during the early subacute phase correlated significantly with coronary risk (p< 0.002). The treatment with intravenous immunoglobulin (IVIG) reduced the risk of coronary aneurysms 4.8 times (p< 0.002). A follow-up was performed in 53 children with coronary lesions during the first year of the disease. A longitudinal follow-up was performed in 38 patients. Their results indicate that cardiac monitoring is obligatory for all patients who have experienced KD. [ABSTRACT FROM AUTHOR]

Kawasaki disease (KD) is a vasculitis syndrome causing coronaritis in young children. As a result of the vascular damage, coronary lesions (CL), ectasia and aneurysms form in 20%–25% of the untreated children. The assessment of KD is difficult and challenging because of the lack of specific diagnostic or laboratory criteria. This is a retrospective study of 107 patients for a period of 21 years (1993–2014). In the cohort, 30.8% of patients had CL (19.6% had coronary aneurysms and 11.2% had significant coronary dilatations). The number of CL was high compared to that reported in international studies, although 45% of children were treated by modern protocols. In an attempt to analyse the reasons for the high coronary risk, the aim of this study was to investigate the clinical aspects of the disease and to establish the diagnostic problems causing diagnosis delay, which is subsequently related to increased coronary risk. The high incidence of the observed CL was associated with the failure of recognizing the disease, delayed diagnosis and, subsequently, lack of correct treatment. The analysis of the clinical presentation indicated significant correlation of gastrointestinal syndrome with typical and atypical KD. The incidence of the gastrointestinal syndrome correlated with the typical KD symptoms (p= 0.030), suggesting that it could be considered as a further diagnostic criterion. [ABSTRACT FROM AUTHOR]

The objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with aGATA6mutation. A girl, currently aged 12 years 3 months, was born with intrauterine growth retardation: weight 1600 g (–4.3 SDS) at term. After birth, foramen ovale and patent ductus arteriosus (PDA) were diagnosed by echocardiography. Diabetes was diagnosed on the 9th day after birth. Exocrine pancreatic insufficiency was clinically diagnosed at about 2 years of age and pancreatic agenesis was revealed later by magnetic resonance imaging. Her father had undergone surgery during infancy for PDA and had developed insulin dependent diabetes at 12 years of age. Ultrasound revealed a thin pancreas with normal length and anatomical structure. He has subclinical exocrine pancreatic insufficiency, low insulin needs and no late complications of diabetes up to the age of 40 years. Sequencing ofGATA6identified a heterozygous splicing mutation, 1136-2A>G, in the girl and her father. Testing of the paternal grandparents showed that the mutation was likely to have arisende novoin the father. Identification of aGATA6mutation explains the cardiac anomalies and diabetes in this family. This case highlights the marked intra-familial variability of both exocrine and endocrine pancreatic phenotypes in patients withGATA6mutations. [ABSTRACT FROM PUBLISHER]

This study aims to evaluate the serum pro-hepcidin level in β-thalassemia patients, to clarify its relation with serum level of ferritin and to assess the possible role of null polymorphisms of glutathione S-transferase genes, GSTM1 and GSTT1, for susceptibility to β-thalassemia and myocardial siderosis. The serum level of pro-hepcidin was assessed in 31 patients [16 children (52 %) and 15 young adults (48 %)] with β-thalassemia and nine healthy individuals [four children (44 %) and five young adults (56 %)] applying ELISA method. Genotyping for the null polymorphisms of GSTM1 and GSTT1 was performed successfully by multiplex PCR in 17 patients and in 40 healthy individuals, which were enrolled in the case-control study for assessment of the role of these polymorphisms as risk factors for β-thalassemia. The mean serum level of pro-hepcidin in patients did not differ significantly (159.12 ± 70.12 ng/ml) from that in controls (144.64 ± 53.30 ng/ml). We found a significant positive correlation with the serum ferritin ( R = 0.371, p = 0.039). In addition, there was an association between the serum pro-hepcidin and the type of chelating therapy. The frequency of GSTT1 null genotypes was significantly higher in patients than in controls (0.29 vs. 0.07, p = 0.025). We observed tendencies for a higher serum ferritin and lower value of ejection fraction of the left ventricle (EFLV) of the patients carrying GSTT1 null genotypes than those with non-null GSTT1 genotypes. The serum levels of pro-hepcidin is not the most precise markers of iron overload and organ dysfunction, but it could be considered as a relatively good alternative of the serum ferritin as an index of iron stores. In addition, we suggest that GSTT1 null genotype could be considered as a predisposing factor for β-thalassemia, myocardial siderosis, and dysfunction in patients with this disease. [ABSTRACT FROM AUTHOR]