Aims. In the present study, we aimed to assess the concentrations of IL-13 and IL-17 in serum of patients with early rheumatoid arthritis (eRA), the investigation of correlation between the concentrations of these cytokines and disease activity score, and the concentration of some autoantibodies and the evaluation of the utility of IL-13 and -17 concentration measurements as markers of disease activity. Materials and Methods. Serum samples were collected from 30 patients and from 28 controls and analysed parameters. Results. The serum concentrations of IL-13, IL-17, anti-CCP, and IgM-RF were statistically significantly higher in patients with eRA, compared to the controls. IL-13 concentrations in the severe and moderate groups with eRA were statistically higher than in the mild and control groups. Also, in the case of IL-17, serum concentrations increased proportionally with the disease activity of eRA. We observe that concentrations of IL-13 and -17 did not correlate with autoantibodies. IL-17 concentration significantly positively correlated with CRP, while IL-13 concentration significantly negatively correlated with CRP. Disease activity score, DAS28, was strongly positively correlated with levels of ESR and weakly positively correlated with concentrations of anti-RA33 autoantibodies. IL-13 has a higher diagnostic utility than IL-17, CRP, ESR, IgM-RF, and anti-CCP as markers of disease activity. Conclusions. The presence of higher IL-13 and IL-17 serum levels in patients, compared with those of controls, confirms that these markers, found with high specificity, might be involved in the pathogenesis of eRA. IL-13 and IL-17 might be of better usefulness in the prediction of eRA activity status than IgM-RF and anti-CCP.

Pancreatic disorders have a high prevalence worldwide. Despite the fact that screening methods became more effective and the knowledge we have nowadays about pancreatic diseases has enhanced, their incidence remains high. Our purpose was to determine whether single nucleotide polymorphism (SNP) of VEGFR-2/KDR (vascular endothelial growth factor receptor 2/kinase insert domain receptor) influences susceptibility to develop pancreatic pathology. Genomic DNA was extracted from blood samples collected from patients diagnosed with acute pancreatitis (n = 110), chronic pancreatitis (n = 25), pancreatic cancer (n = 82) and healthy controls (n = 232). VEGFR-2 (KDR) 604A>G (rs2071559) polymorphism frequency was determined with TaqMan allelic discrimination assays. Statistical assessment was performed by associating genetic polymorphism with clinical and pathological data. In both pancreatic disorders and healthy control groups the polymorphism we studied was in Hardy-Weinberg equilibrium. Association between increased risk for pancreatic disorders and studied polymorphism was statistically significant. KDR 604AG and AG + GG genotypes were more prevalent in acute pancreatitis and pancreatic cancer patients than in controls. These genotypes influence disease development in a low rate. No association was found between chronic pancreatitis and KDR 604AG and AG + GG genotypes. In Romanian cohort, we found an association between the KDR 604A→G polymorphism and acute pancreatitis and pancreatic cancer. Carriers of the -604G variant allele were more frequent among acute pancreatitis and pancreatic cancer than among controls, suggesting that KDR 604G allele may confer an increased risk for these diseases. In the future, more extensive studies on larger groups are necessary, in order to clarify the role of VEGFR2 polymorphisms in pancreatic pathology.

Hepatorenal syndrome (HRS) is defined as renal failure that occurs in the presence of severe acute or chronic liver disease in the absence of underlying renal pathology. Due to the functional nature of the disease and the absence of specific diagnostic markers, HRS diagnosis is determined based on positive criteria associated with excluding other causes of renal failure in patients with liver cirrhosis and ascites. Differentiation from other types of acute or chronic renal disease is extremely difficult and therapeutic options are limited, prophylactic behavior is most appropriate in patients with severe hepatic disease and risk factors for the installation of hepatorenal syndrome.Highlighting all precipitating factors of acute renal insufficiency and therapeutic modalities in order to minimize adverse events is an important step in improving the follow-up of the patients with liver cirrhosis. The prognosis is reserved especially for type 1 HRS. Liver transplantation is the best option for patients without contraindications. The therapies introduced in recent years, such as vasoconstrictor drugs or transjugular intrahepatic portosystemic shunt are effective methods in the renal function improvement.

Background and AimIn Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and signs leading to misdiagnosis and delaying treatment. Aicardi syndrome is a rare disorder mainly characterised trough agenesis or dysgenesis of the corpus callosum, seizures and chorioretinal lacunae, affecting about 1 in 1 05 000 to 1 67 000 newborns. It is estimated that there are approximately 4000 affected individuals worldwide. This case report aims to outline the difficulties met in the diagnostic process of a case with Aicardi-Goutieres syndrome and the importance of a multidisciplinary medical team in rare diseases diagnostic.MethodWe have investigated an 18 months old girl with hemiparesis and generalised hypertonia starting at the age of 9–10 months. MRI showed leukoencephalopaty, mostly suggestive for a lysosomal storage disorder. The metabolic work-up including serum ammonia and lactate, tandem mass and urine organic aminoacid was inconclusive. The lysosomal disease panel performed was negative.DNA isolated and purified from peripheral venous blood was further assessed by NGS platform (Mi-Seq, Illumina) using a panel containing 26 genes responsible for leukodystrophies.ResultsAssessment through NGS panel identified two different mutations in RNASEH2B gene: c.529G>A (p.Ala177Thr) and c.554T>G (p.Val185GLy). The result was further validated through Sanger sequencing. Sanger sequencing of both parents revealed that the mother was carrier for c.554T>G (p.Val185GLy) mutation, while the father carried the other mutation identified in the child.ConclusionBased on literature review (scientific papers and international databases like DECIPHER and OMIM) we were able to correlate the clinical phenotype identified our patient with the mutations obtained through NGS assessment. The clinical diagnostic of this patients was Aicardi – Goutieres syndrome.Genetic results may offer significant data to make possible phenotype- genotype correlation. Therefore, genetic testing plays an important role in the diagnosis and future management of rare disordersKey-words: rare diseases, Aicardi syndrome, RNASEH2B mutation

This is an open-access article distributed under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Public License, which permits unrestricted use, adaptation, distribution and reproduction in any medium, non-commercially, provided the new creations are licensed under identical terms as the original work and the original work is properly cited. ORIGINAL PAPER Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis VIOREL BICIUŞCĂ 1) , ILEANA OCTAVIA PETRESCU 2) , CRISTINA ELENA SINGER 2) , ANCA GABRIELA OANCEA 3) , ANA-MARIA PETRESCU 4) , IONELIA-SORINA STAN 5) , PATRICIA DURAND 5) , CITTO IULIAN TAISESCU 6) , DANIELA DUMITRESCU 7) , MIHAELA AMELIA DOBRESCU 8) , ION UDRIŞTOIU 9) , DIANA RODICA TUDORAŞCU 10) , FLORIN PETRESCU 10)

The disruption of brain ontogeny phases leads to major early malformations, such as forebrain, anencephaly. Cephalic malformations are most commonly hydrocephalus and microcephaly.The authors have analysed data collected from the medical observation sheets of Paediatrics Clinic II, Craiova, for patients hospitalised between 2007–2015, with diagnoses of CNS malformations.Resultsthere were 87 patients with brain malformations in the study. The types of defects noted: microcephaly: 46; hydrocephalus: 21; pellucida/arachnoid septum cyst : 3 and 3; cave of septum pellucidum: 1; right cerebral hemisphere atrophy-1; agenesis of the corpus callosum-1, Dandy Walker syndrome-1; periventricular cysts-1; mirror movement disorder(splitting cerebral) −1, holoprosencephaly-1. The outcome was lethal to 12 children in the reviewed period, others were transferred, but 7 patients with myelomeningocele and hydrocephalus were operated successfully.Surgical treatments improved survival rate in case of congenital cranial defects, as demonstrated by this study.

BackgroundChildren’s state of nutrition is influenced by selected environmental factors, parents’ level of education, and familial eating habits.ObjectivesTo study the relationship among anthropometric parameters, child-feeding practices and factors which influence growth and development; to encourage children and families to have a healthy lifestyle.MethodsThe study group comprised 147 preschool-aged children, from a kindergarten in Craiova. Inclusion criteria: children aged 3–6 years, with primary obesity: BMI ≥percentile 95/sex/age, overweight: 85≤BMI<95 percentile/sex/age, normal weight: 5≤BMI<85 percentile/sex/age, underweight: BMI<5 percentile/sex/age. We took into consideration: anthropometric parameters, feeding habits (food intake, meals), environmental factors (family, kindergarten), and filled-in questionnaires. We developed educational materials for parents, highlighting the importance of physical activity and nutrition (meal plans).ResultsThe prevalence of overweight was 23.3%, obesity 6.2% and underweight 1.4%. Predisposing and determinant factors of underweight were low birth weight, poor socio-economic conditions, incorrect food diversification, poor food intake, both qualitatively and quantitatively. Sweets consumption (dessert, biscuits, chocolate, sodas, ice cream, and/or candy on a daily basis) constituted 38% of the daily average intake of the obese/overweight children; on the other hand, only 3 of 10 preschoolers consume green vegetables daily. 58% obese and 61% overweight preschool-aged children consume junk food (burgers, fried chicken, pizza, chips). 38% of preschool-aged children spend more than 2 hours in front of the television/computer screen every day.ConclusionsPreschoolers are considered a very important target group, since early, healthy eating habits represent the most efficient method to preserve the state of health in the long run. Families should be educated to be aware of the impact they have on their children’s development and health.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency.We present a case of this disease in a male child who was monitored by the Oncopediatrics Department of the Emergency County hospital Craiova from April 2015, when he was 2 years and 9 months to November 2016, when 3 years and 4 months. The anamnesis of this patient revealed high mortality because of the infectious pathology in his male relatives (2 uncles and 3 brothers who deceased when very young, among them twins with sepsis); 6 intrauterine fetal deaths, males; a healthy sister.The patient had numerous infections ever since he was born (cutaneous staphylococci infections) then some other infections with other locations (staphylococci pneumonia, urinary infections with E Coli, digestive infections, and systemic infections with Proteus mirabilis) which required repeated treatments given by his family physician and many admissions to hospital.Taking into account the heredo-collateral and personal history of an infectious nature, we suspected a primary immunodeficiency even from his first admission to the Oncopediatrics Department. We finally performed BURTEST (the quantitative assessment of the oxidative burst of the neutrophils) but the result which confirmed our CGD suspicion came 3 days after the patient’s death.Although we could not perform tests in order to tell the type of the genetic mutation and taking into consideration that mortality was registered only in males, we could affirm that it is a CGD with X-linked recessive transmission.