Birgül Varan

Malnutrition and growth failure in cyanotic and acyanotic congenital heart disease with and without pulmonary hypertension

AIM To investigate the effect of several types of congenital heart disease (CHD) on nutrition and growth. PATIENTS AND METHODS The prevalence of malnutrition and growth failure was investigated in 89 patients with CHD aged 1−45 months. They were grouped according to cardiac diagnosis: group aP (n = 26), acyanotic patients with pulmonary hypertension; group ap (n = 5), acyanotic patients without pulmonary hypertension; group cp (n = 42), cyanotic patients without pulmonary hypertension; and group cP (n = 16), cyanotic patients with pulmonary hypertension. Information on socioeconomic level, parental education status, birth weight and nutrition history, number of siblings, and the timing, quality, and quantity of nutrients ingested during weaning period and at the time of the examination were obtained through interviews with parents. RESULTS There was no significant difference between groups in terms of parental education status, socioeconomic level, duration of breast feeding, and number of siblings (p > 0.05). Group cP patients ingested fewer nutrients for their age compared to other groups. 37 of the 89 patients were below the 5th centile for both weight and length, and 58 of 89 patients were below the 5th centile for weight. Mild or borderline malnutrition was more common in group aP patients. Most group cp patients were in normal nutritional state, and stunting was more common than wasting. Both moderate to severe malnutrition and failure to thrive were more common in group cP patients. CONCLUSION Patients with CHD are prone to malnutrition and growth failure. Pulmonary hypertension appears to be the most important factor, and cyanotic patients with pulmonary hypertension are the ones most severely affected. This study shows the additive effects of hypoxia and pulmonary hypertension on nutrition and growth of children with CHD.

Systemic Inflammatory Response Related to Cardiopulmonary Bypass and Its Modification by Methyl Prednisolone: High Dose Versus Low Dose

AbstractThe objective of our study was to investigate the safety and efficacy of high-dose methyl prednisolone (MP) in modifying the systemic inflammatory response (SIR) to cardiopulmonary bypass (CPB) and to compare its efficacy with low-dose MP in children undergoing cardiac surgery for congenital heart disease. Thirty children with congenital heart disease undergoing CPB were randomly assigned to two groups: group 1 (n = 15) received 30 mg/kg MP by an intravenous infusion for 30 minutes and group 2 (n = 15) received 2 mg/kg intravenously, before the onset of CPB. Postoperative clinical parameters were recorded, and serum interleukin (IL)-6 and 8 levels, acute phase reactants, and blood biochemistry were determined serially for both groups. In both groups plasma IL-6 and 8 levels were elevated above the preoperative levels at 2 and 24 hours after declamping. The peak levels were obtained at 2-hour samples. The difference between the two groups in terms of postoperative IL-6 and 8 levels was not statistically significant. C-reactive protein (CRP) levels and polymorphonuclear leukocyte counts, postoperative core temperature, duration of mechanical ventilation, period of stay in intensive care unit, oxygenation indices, and biochemical parameters of patients did not significantly differ in the two groups. Only 1 patient in group 1 had elevated liver enzymes, blood urea nitrogen, and creatinine in the postoperative period. No significant complications were observed due to treatment with high-dose MP. Although postoperative IL and CRP levels indicated a SIR in our patients, the clinical picture was apparently affected in only 1 patient and she was in the high-dose MP group. CPB initiates a SIR that is associated with an increase in neutrophil count, CRP, and IL-6 and 8 levels. High-dose (30 mg/kg) MP was not superior to low-dose (2 mg/kg) in blunting the SIR to CPB in pediatric patients undergoing open-heart surgery.

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double‐outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo‐auriculo‐vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2–C3, and posterior fusion of the T1‐T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.

Intranasal budesonide spray as an adjunct to oral antibiotic therapy for acute sinusitis in children

Abstract We investigated the clinical value of intranasal budesonide in acute sinusitis in 52 children with acute maxillary sinusitis. We randomly divided them into two groups: group 1 received oral pseudoephedrine (2 × 30 mg) and cefaclor (40 mg/kg) for 10 days, and group 2 received intranasal budesonide (2 × 100 μg) and cefaclor (40 mg/kg) for 10 days. Symptoms of headache, cough, and nasal stuffiness and signs of nasal discharge were graded before and after treatment. The patients whose symptoms and signs completely normalized after treatment were considered to have recovered, and those with persisting symptoms and signs after treatment as having not recovered. The results of the two treatment groups were compared. The recovery rate of the children in group 2 were significantly higher than those in group 1 (P < 0.05). No adverse drug effects were determined during the study period. These findings suggest that topical steroids may be a useful adjunctive agent in the treatment of acute sinusitis of children without apparent side effects and can possibly hasten the resolution of symptoms.

Diaphragmatic paralysis after cardiac surgery in children: incidence, prognosis and surgical management.

Diaphragmatic paralysis (DP) after cardiac surgery is an important complication especially in infants. We analyzed the incidence, clinical course, surgical management and follow up of the patients with DP, retrospectively. Between 1996 and 2005, 3,071 patients underwent cardiac surgery. Total number of patients with DP was 152 (4.9%). Out of 152 patients, 42 were surgically treated with transthoracic diaphragm plication (1.3%). The overall incidence of diaphragm paralysis was higher in correction of tetralogy of Fallot (31.5%), Blaloc–Taussig (B–T) shunt (11.1%) and VSD closure with pulmonary artery patch plasty (11.1). The incidence of DP which require plication was higher in B–T shunt (23.8%) arterial switch (19%) and correction of tetralogy of Fallot (11.9%). Mean and median age at the time of surgery were 17.8±3.6 and 6 months, respectively. Median time from cardiac surgery to surgical plication was 12 days. Indications for plication were repeated reintubations (n=22), failure to wean from ventilator (n=12), recurrent lung infections (n=5) and persistent respiratory distress (n=3). Mortality rate was 19.1%. Being under 1 year of age, pneumonia and plication 10 days after mechanical ventilation were associated with higher incidence mortality (P<0.05). Phrenic nerve injury is a serious complication of cardiac surgery. It is more common after some special procedures. Spontaneous recovery is very rare. Being under 1 year of age, plication after 10 days from the surgery and pneumonia are major risk factors for mortality even in plicated patients. Transthoracic plication is helpful if performed early.

Subcutaneous fat necrosis of the newborn associated with anemia.

Abstract: Subcutaneous fat necrosis (SFN) of the newborn characteristically affects full‐term infants who have experienced perinatal distress, such as hypothermia, obstetric trauma, or asphyxia. We report a newborn who had pallor, deep breathing, and severe anemia immediately after birth. She developed SFN on the fourth postnatal day. Her condition improved after blood transfusions and the skin lesions resolved in 6 weeks. This appears to be the first report of SFN associated with anemia.

Type I diabetes mellitus, Hashimoto's thyroiditis and celiac disease in an adolescent with Down syndrome.

The prevalence of autoimmune diseases such as autoimmune thyroiditis, type I diabetes mellitus (DM), and celiac disease (CD) is higher in patients with Down syndrome (DS, or trisomy 21) than in the general population. 1,2 However, there are only a few published reports of coexistent autoimmune thyroid disease, type I DM and CD in a DS patient. 3 Here we describe the case of an adolescent boy with DS who was diagnosed with Hashimoto’s thyroiditis, type I DM and CD.

Gastroduodenal lesions and Helicobacter pylori in children with end-stage renal disease

Abstract Thirty-seven children with end-stage renal disease were evaluated for gastroduodenal lesions by upper gastrointestinal endoscopy between January 1993 and January 1998. The mean (±SD) age of the patients was 14.3±2.4 years (range 9–17 years). Endoscopic examination was abnormal in 17 patients (46%). The lesions were antral gastritis plus bulbitis (n=6), nodular bulbitis (n=4), antral gastritis (n=4), and duodenal ulcer (n=3). Fifteen patients had symptoms related to gastroduodenal disease, whereas 22 patients were asymptomatic at the time of endoscopic examination; 80% of the symptomatic and 23% of the asymptomatic patients had gastroduodenal lesions on endoscopy. Antral mucosal biopsy was taken from 26 of 37 children for the detection of Helicobacter pylori by the urease test. H. pylori was detected in 10 of 16 patients with gastroduodenal lesions (8 symptomatic, 2 asymptomatic). None of the patients with normal endoscopic examination were positive for H. pylori. Thus, we have demonstrated a significant number of gastroduodenal lesions and their frequent association with H. pylori in our pediatric renal transplant candidates. Our results emphasize the importance of gastrointestinal evaluation in these patients. Endoscopic examination should be considered in symptomatic patients and in areas where H. pylori is endemic.

Brain Abscess Associated with Isolated Left Superior Vena Cava Draining into the Left Atrium in the Absence of Coronary Sinus and Atrial Septal Defect

A previously healthy 12-year-old girl presented with severe headache for 2 weeks. On physical examination, there was finger clubbing without apparent cyanosis. Neurological examination revealed only papiledema without focal neurologic signs. Cerebral magnetic resonance imaging showed the characteristic features of brain abscess in the left frontal lobe. Cardiologic workup to exclude a right-to-left shunt showed an abnormality of the systemic venous drainage: presence of isolated left superior vena cava draining into the left atrium in the absence of coronary sinus and atrial septal defect. This anomaly is rare, because only a few other cases have been reported.

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rates of coagulopathy. The aim of this study was to evaluate phenotypic characteristics, PTPN11 gene mutations, and hematological and coagulation parameters in 30 clinically diagnosed cases of NS. One of the NS patients had a history of easy bruising; however, his hematological and coagulation tests were normal. None of the other patients had clinical coagulation problems. In the NS group, values for platelet count, activity of factors XI, XII, and protein C were significantly lower than the corresponding means for the control group. However, the results of coagulation tests in the NS group were diagnostically inconclusive and only one patient had clinical signs of coagulopathy. Interestingly, two NS patients had low protein C activity. One of these children had an A1517C mutation and transient myelodysplasia. The other patient had a C1528G mutation in exon 13 that has not been reported previously. Neither of these individuals experienced a thrombotic event or any complication during approximately 3 years of follow‐up. For all patients clinically diagnosed with NS, a thorough history of coagulation issues should be taken and first‐line coagulation testing should be done to evaluate for bleeding diathesis. However, if these assessments reveal nothing abnormal, complications related to coagulation are unlikely and extensive testing is unnecessary.