DiGeorge syndrome (DGS) which is also known as velocardiofacial syndrome is caused by a submicroscopic chromosome deletion of band 22q11. It is associated with a disturbed development of the pharyngeal arches. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, recurrent respiratory infections and developmental deficiency. Definitive diagnosis is made by Fluorescence In Situ Hybridization analysis (FISH). Children underwent surgical correction of congenital heart defects. During surgery thymic aplasia was confirmed in both children, postoperative course proceeded without major complications. Our report suggests that the criteria in searching for microdeletion 22q11.2 should be expanded and applied in patients with conotruncal and non-conotruncal congenital heart defects and at least one typical feature of this syndrome.

Abstract Objective: To estimate if an acute postasphyxial renal injury in newborns could indicate a neurological outcome. Methods: We conducted a prospective clinical trial on 50 full-term newborns with 5-minute Apgar score <7 (asphyxiated group) and a control group of 50 full-term newborns with 5-min Apgar score ≥7 (non-asphyxiated group). Renal function was assessed on the third day of life by serum values of creatinine, cystatin C and β2-microglobulin (β2M) and glomerular filtration rate (GFR). All newborns had brain and renal ultrasonography at early stages and were followed by Amiel-Tison Neurological Assassment (ATNA) throughout the first year of life. Results: Mean GFR was significantly lower in asphyxiated than in non-asphyxiated group (22.08 ± 6.66 ml/min/1, 73 m2 versus 35.42 ± 2.26 ml/min/1, 73 m2; p < 0.001) and serum values of creatinine, cystatin C and β2M were significantly higher (1.13 versus 0.66 mg/dl; 3.92 versus 1.52 mg/l; 1.53 versus 0.99 mg/l; p < 0.001). In asphyxiated group ATNA results throughout the first year of life significantly correlated with renal function (p < 0.01). A correlation of ATNA with Apgar score at 5 min, Sarnat and Sarnat staging of hypoxic ischemic encephalopathy and brain and renal ultrasonography has also been significant (p < 0.01). Conclusions: Our study showed a significant correlation between early impairment of renal function due to neonatal asphyxia with neurological outcome at the end of the first year of life.

Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodeficiency. Deregulation of the immune system, leading to hypogammaglobulinemia, defective activation and proliferation of T cells and dendritic cells, and malfunction of the cytokines are observed in CVID. The clinical picture of CVID varies, any organ or system can be affected, therefore the diagnosis is often difficult and delayed and sometimes is not always possible. This article describes a twelve years old boy with all the clinical signs of immunodeficiency, as confi rmed by laboratory. The main treatment consists of life-long immunoglobulin substitution in intravenous or subcutaneous form.

Lymphocyte Subsets in Bronchoalveolar Lavage Fluid of Children with Lung Infiltrates The analysis of the subpopulation of lymphocytes - CD4+, CD8+ lymphocytes in bronchoalveolar lavage (BAL) of paediatric patients can provide useful information related the lung parenchyma. The aim of the paper was to analyze the results of bronchoscopy of patients presenting with persistent lung infiltrates and to find out of the diagnostic yield and complication rate of this procedure. The study is a retrospective one. The data related to paediatric findings and BAL results of the bronchoscopies were retrieved from the hospital records. BAL was performed in tracheobronchial airways (middle lobe) by bronchoscope and sent to analysis of CD4+, CD8+ lymphocytes. Bronchoscopy was performed under general anesthesia (sedation, propofol, midazolam, morphium). The records of seven patients were analyzed. All patients presented with persistent lung infiltrate (atelectasis and pneumonia). 71% of the patients with lung infiltrates in our study were below the age of 5. Our study results showed that CD4+, CD8+ lymphocytes in BAL in the studied group showed a small percentage of CD8+ lymphocytes as an immune response in 8-10% of patients, while the cellular response of CD4 +lymphocytes in the sample itself was present up to 14% in the entire group of the diseased children. There was no serious desaturation during bronchoscopy. Bronchoscopy with BAL findings of lymphocyte populations is important in the early identification of inflammation and it helps in therapeutic strategies and monitoring of inflammatory response to the given therapy. Subpopulacija limfocita u bronhoalveolarnoj lavaži kod pedijatrijskih bolesnika sa plućnim infiltratom Analiza subpopulacija limfocita u bronhoalveolarnoj lavaži (BAL) kod pedijatrijskih bolesnika može nam pružiti korisne informacije o dešavanju u parenhimu pluća. Cilj rada bio je analiza rezultata bronhoskopije i BAL-a kod bolesnika sa perzistentnim plućnim infiltratima i stope komplikacija kod ove procedure. Ovo je retrospektivna studija. Podaci o pedijatrijskim nalazima i rezultatima BAL bronhoskopija uzeti su iz bolničke evidencije. BAL je izvršena bronhoskopom unutar traheobronhalnog stabla (srednji lobus) i upućena na CD4+, CD8+ limfocita. Za vreme bronhoskopije nije zabeležena ozbiljnija desaturacija. Bronhoskopija je urađena u opštoj anesteziji (propofol, midazolam, morfijum). Analizirano je ukupno 17 istorija bolesti. Svi bolesnici imali su perzistentne plućne infiltrate (atelektazu i upalu pluća). 71% bolesnika sa plućnim infiltratima bili su mlađi od 5 god. Rezultati naše studije pokazali su da CD4+, CD8+ limfociti u BAL-u na datoj grupi pokazuju mali procenat CD8+ limfocita kao imunu reakciju kod 8-10% bolesnika, dok je ćelijska reakcija CD4+ limfocita u samom uzorku bila zabeležena kod 5%, odnosno 14% bolesnika u čitavoj grupi obolele dece. Bronhoskopija sa BAL-om je značajna metoda u identifikaciji imunog odgovora u plućima i primeni adekvatne terapije.

Introduction: The prevalence of pediatric obesity is increasing. Finding the most effective preventive measures for the development of obesity in each country requires accurate epidemiological data on the number of obese children and adolescents, and their habits regarding nutrition and activity. The objective of this study was evaluate diet and physical activity in primary school students in relation to the occurrence of obesity, to determine the prevalence of overweight, mark the basic causes of this phenomenon and to establish measures for treatment and prevention.Methods: pupils 1-8. grades of primary schools were surveyed in written forms in terms of nutrition and physical activity, and measured height and weight, body mass index (BMI-body mass index) was calculated by whichwas estimated the level of nourishment: BMI> p (percentile) 5-malnutrition, p 5-85 proper body weight, p 85-95 over-nutrition, p> 95 obesity.Results: The study comprised 2329 pupils from 10 primary schools in the Canton of Sarajevo. Number of respondents by age and gender was balanced: I-IV 1077, V-VIII 1252; M-1226 and -1103 W. Obese and overweight was 22.46%, 62.53% of normal weight and 15 underweight, 01%. Most children eat a sandwich from school 34.63%, and food from the bakery 23.36% and 23.64% a sandwich from home. Still-dense juices are mostly drunk, even 22.34% of the students, a maximum of 52.8% water. Daily candy had taken 53.21% of all primary school students. 33.80% of the students were active on physical activity lessons and daily only 28.27%.Conclusions: The overweight problem in relation to the way of nutrition and physical activity is evident. The most important factors in] uencing the development of obesity undernutrition of children in school, the high frequency of intake of sweets and thick juice, an inadequate level ofphysical activity and sedanteran way of life.

OBJECTIVE To determine the incidence and distribution of neonatal sepsis in premature newborns with congenital heart disease (CHD) according to gestational and postnatal age, time of onset, and type and frequency of causing agents, and compare it with premature newborns without CHD. DESIGN, SETTING, PATIENTS A clinical investigation on 80 premature newborns admitted to neonatal intensive care unit (NICU) of Pediatric Clinic University Medical Center Sarajevo, Bosnia and Herzegovina, between October 23, 2007 and March 18, 2009. We analyzed the incidence and distribution of neonatal sepsis in premature newborns with CHD according to gestational and postnatal age, time of onset, and type and frequency of causing agents, and compared it with premature NICU patients without CHD. RESULTS Of the 80 premature newborns included in our study, 14 had CHD with patent ductus arteriosus as the most common type of anomaly. Culture-proven sepsis was diagnosed in 28.57% premature newborns with CHD and 12.12% premature newborns without CHD. The three most common causing agents were Staphylococcus aureus, Klebsiella species, and Serratia species. CONCLUSION Premature newborns with CHD have a higher risk of acquiring sepsis during hospitalization in NICU, probably because of longer duration of hospitalization and need for invasive procedures such as mechanical ventilation, central venous catheters, and parenteral nutrition.

A modern diagnostic and therapeutical approach to paediatric cardiology enables early application of foetal echocardiography in order of achieving diagnosis of congenital heart anomalies in utero. The aim of this study is to evaluate the percentage of prenatal diagnosis of congenital heart anomalies. This study has been conducted on 73 patients at Paediatric clinic of Clinical Centre of Sarajevo in a period from January 2000 until December 2004 with diagnosis of heart malformations. Among them 14 were preterm newborns, 40 boys. Diagnosis of cardiac anomalies with left to right shunt was done in 56.1%, obstructive 13.7%, cyanotic 1.36% and complex in 28.7% patients. The prenatal diagnosis was established in 4 patients (5.5%) by ultrasound examination which is very low in comparison to other European countries. There is a need for making prenatal diagnosis of congenital heart anomalies in foetus as early as it can be done in order to treat cardiac anomalies in utero, to decrease the number of congenital heart anomalies and to reduce the cost of cardiosurgical and postsurgical treatment.

and these may reflect airway inflammation. It Background – It is possible to measure has been shown that, when compared with nitric oxide (NO) levels in exhaled air. The normal subjects, the mean levels of NO in absolute concentrations of exhaled NO obexhaled air are significantly increased in asthtained by separate workers in similar matic subjects who are on bronchodilator therpatient groups and normal subjects with apy as their only treatment. 5–7 Exhaled NO apparently similar techniques have been decreases significantly in asthmatic subjects on very different. A study was undertaken to regular inhaled topical corticosteroids when determine whether changes in measurecompared with those on bronchodilator therapy ment conditions alter the concentration of only. Nitric oxide decreases with regular ciexhaled NO. garette smoking, 8 9 with ingestion of alcohol, Method – NO concentrations measured by and may be decreased in subjects with primary a chemiluminescence analyser (Dasibi ciliary dyskinesia. Levels have also been Environmental Corporation) and carbon shown to increase with viral upper respiratory dioxide (CO2) measured by a Morgan tract infections. There is a variation between capnograph were analysed in single results seen in men and women with an inexhalations from total lung capacity in fluence of time of the menstrual cycle affecting healthy volunteers (mean age 35.9 years). the levels obtained in the latter. Ten subjects performed five exhalations at However, the absolute mean concentrations four different expiratory flow rates, at four of exhaled NO obtained by separate workers different expiratory mouth pressures, and in similar patient groups and normal subjects before and after drinking hot (n=5) or using apparently similar techniques have been cold (n=5) water. Three subjects perquite disparate. In part this could be explained formed five exhalations on a day of high by the different sites of measurement and the background NO (mean NO level 134 ppb) degree of contamination of the exhaled air by before and after a set of five exhalations the nasal and sinus passages. By comparing made while both the subject and analysers the concentrations of NO exhaled during tidal were sampling from a low NO/NO-free breathing through either nose or mouth, Alving reservoir system. et al 6 suggested that the major contribution Results – The mean peak concentration of came from the nasal space with a minor adNO decreased by 35 ppb (95% CI 25.7 to dition from the lower airways. Lundberg et al 43.4) from a mean (SE) of 79.0 (15.5) ppb demonstrated a decreasing concentration of at an expiratory flow rate of 250 ml/min to exhaled NO when sampling progressively down 54.1 (10.7) ppb at 1100 ml/min. The mean the respiratory tract at the nose, mouth and, peak concentration of NO did not change in four tracheotomised patients, below the vocal significantly with change in mouth prescords. By isolating the nasal passages from sure. The mean (SE) peak NO conthe rest of the respiratory tract with voluntary centration decreased from 94.4 (20.8) ppb closure of the soft palate Kimberly et al to 70.8 (16.5) ppb (p=0.002, 95% CI 12.9 showed that the release of NO in the nasal to 33.1) with water consumption. The passages was approximately seven times greater mean NO concentration with machine and than the rest of the respiratory tract. Higher subject sampling from the low NO reslevels have now been demonstrated in the paraervoir was 123.1 (19.4) ppb, an increase nasal sinuses with an age dependent increase from results obtained before (81.9 in keeping with sinus pneumatisation. Gerlach (10.2) ppb, p=0.001, 95% CI −19.9 to et al measured NO concentrations in the nasoPaediatric −62.7) and after (94.2 (18.3) ppb, p=0.017, Department, Royal pharynx and trachea and found higher levels 95% CI 6.0 to 51.8) sampling with high Brompton Hospital, during inspiration than expiration, which sugSydney Street, London ambient NO. gests that there may be absorption of NO by SW3 6NP, UK Conclusions – The measurement of exC A Byrnes the lower respiratory tract but does not exclude haled NO must be performed in a carefully S Dinarevic the possibility of an exhaled component coming C A Busst standardised manner to enable different from pulmonary synthesis. E A Shinebourne teams of investigators to compare results. The variation in NO levels obtained makes A Bush (Thorax 1997;52:697–701) it difficult to compare results presented by Correspondence to: Dr A Bush. different groups. In a preliminary study in nor

The aim of this study was to determine whether we could measure exhaled nitric oxide (NO) levels in children, and whether the same pattern of exhaled NO concentrations was observed in asthmatic and normal children as had been seen in adults. Using a chemiluminescence NO analyzer, we measured NO in exhaled air both directly and through a T‐piece allowing us to measure carbon dioxide (CO2), mouth pressure, and expiratory flows. In 39 normal children the mean peak exhaled NO was 49.6 parts per billion (ppb) (SD 37.4) when all expired gas passed directly through the NO analyzer, and 29.7 ppb (SD 27.1) when expiration occurred through a T‐piece. The results were significantly higher in 15 asthmatic subjects on bronchodilator therapy only [126.1 ppb (SD 77.1) direct (P < 0.001), and 109.5 ppb (SD 106.8) via T‐piece (P < 0.001)]. In 16 asthmatics on regular inhaled corticosteroids the mean peak exhaled levels were significantly lower 48.7 ppb (SD 43.3) direct (P < 0.001) and 45.2 ppb (SD 45.9) via T‐piece (P < 0.01). There was no difference between the normal children and the asthmatic children on regular inhaled corticosteroids (P = 0.9 direct, P = 0.2 via T‐piece). There were no significant differences in carbon dioxide levels, mouth pressure, duration of expiration and expiratory flows between the different groups, and no difference between carbon dioxide levels, mouth pressure and duration of expiration between the two methods (direct and T‐piece). In 6 asthmatic children mean peak exhaled levels on NO fell from a median peak level of 124.5 ppb to 48.6 ppb when measured before and 2 weeks after commencement of inhaled corticosteroid treatment. The measurement of exhaled NO levels may be useful as a noninvasive means of monitoring children with asthma. Pediatr. Pulmonol. 1997; 24:312–318 © 1997 Wiley‐Liss, Inc.

BACKGROUND: It is possible to measure nitric oxide (NO) levels in exhaled air. The absolute concentrations of exhaled NO obtained by separate workers in similar patient groups and normal subjects with apparently similar techniques have been very different. A study was undertaken to determine whether changes in measurement conditions alter the concentration of exhaled NO. METHOD: NO concentrations measured by a chemiluminescence analyser (Dasibi Environmental Corporation) and carbon dioxide (CO2) measured by a Morgan capnograph were analysed in single exhalations from total lung capacity in healthy volunteers (mean age 35.9 years). Ten subjects performed five exhalations at four different expiratory flow rates, at four different expiratory mouth pressures, and before and after drinking hot (n = 5) or cold (n = 5) water. Three subjects performed five exhalations on a day of high background NO (mean NO level 134 ppb) before and after a set of five exhalations made while both the subject and analysers were sampling from a low NO/NO-free reservoir system. RESULTS: The mean peak concentration of NO decreased by 35 ppb (95% CI 25.7 to 43.4) from a mean (SE) of 79.0 (15.5) ppb at an expiratory flow rate of 250 ml/min to 54.1 (10.7) ppb at 1100 ml/min. The mean peak concentration of NO did not change significantly with change in mouth pressure. The mean (SE) peak NO concentration decreased from 94.4 (20.8) ppb to 70.8 (16.5) ppb (p = 0.002, 95% CI 12.9 to 33.1) with water consumption. The mean NO concentration with machine and subject sampling from the low NO reservoir was 123.1 (19.4) ppb, an increase from results obtained before (81.9 (10.2) ppb, p = 0.001, 95% CI -19.9 to -62.7) and after (94.2 (18.3) ppb, p = 0.017, 95% CI 6.0 to 51.8) sampling with high ambient NO. CONCLUSIONS: The measurement of exhaled NO must be performed in a carefully standardised manner to enable different teams of investigators to compare results.