Israel Medical Association Journal

Background: Congenital hepatic hilar cysts are rare. Some are simple and do not require intervention, but some biliary cystic malformations impose the risk of morbidity and mortality. Objectives: To assess a series of five patients presenting with congenital hepatic hilar cysts. 

Methods: We retrospectively reviewed all cases presenting to our pediatric surgical service between January 2010 and December 2012 and found to have a congenital hepatic hilar cyst. Data regarding clinical, radiological, operative and pathological features were analyzed.

Results: Five children with congenital cyst of the hepatic hilum were identified; four of them were diagnosed prenatally. Four children had undergone surgical intervention: one with intrahepatic choledochal cyst, one with epidermoid cyst, and two with biliary atresia and an associated cyst of the common bile duct. In another case of choledochal cyst the treatment was conservative. All children except one had a good prognosis; one child with biliary atresia required liver transplantation.

Conclusions: The differential diagnosis of congenital hepatic hilar cyst includes a broad spectrum of pathologies. It is essential to diagnose biliary atresia as early as possible. Signs such as smaller cysts in association with a hypoplastic gallbladder and direct hyperbilirubinemia may be suggestive of biliary atresia.

Objectives: To assess the role of electrocardiography-gated CT-angiography (ECG-CTA) in the routine evaluation of CHD in neonates and infants particularly for the assessment of extracardiac findings.

Methods: The study cohort comprised 40 consecutive patients who underwent trans-thoracic echocardiography (TTE) and ECG-CTA. TTE and ECG-gated CTA findings regarding extracardiac vascular structures, coronary arteries and airways were compared with surgical or cardiac catheterization findings. Scans were evaluated for image quality using a subjective visual scale (from 1 to 4). Effective radiation dose was calculated for each scan.

Results: Median age was 28 ± 88 days and mean weight 3.7 ± 1.5 kg. Diagnostic quality was good or excellent (visual image score 3–4) in 39 of 40 scans (97.5%). ECG-CTA provided important additional information regarding extracardiac vascular structures and airway anatomy, complementing TTE in 75.6% of scans. Overall sensitivity of ECG-gated CTA for detecting extracardiac findings as compared with operative and cardiac catheterization findings was 97.6%. The calculated mean effective radiation dose was 1.4 ± 0.07 mSv (range 1.014–2.3 mSv).

Conclusions: ECG-CTA is an accurate modality for demonstrating extracardiac structures in complex CHD. It provides important complementary information to TTE regarding extracardiac vascular structures and coronary artery anatomy. This modality may obviate the need for invasive cardiac catheterization, thus exposing the patient to a much lower radiation dose. 

Objectives: To retrospectively analyze the results of a screening program for C-CMV performed at the Sheba Medical Center, Tel Hashomer, during a 1 year period, using real-time polymerase chain reaction (rt-PCR) from umbilical cord blood.

Methods: CMV DNA was detected by rt-PCR performed on infants’ cord blood. C-CMV was confirmed by urine culture (Shell-vial). All confirmed cases were further investigated for C-CMV manifestations by head ultrasound, complete blood count, liver enzyme measurement, ophthalmology examination and hearing investigation.

Results: During the period 1 June 2009 to 31 May 2010, 11,022 infants were born at the Sheba Medical Center, of whom 8105 (74%) were screened. Twenty-three (0.28%) were positive for CMV and 22 of them (96%) were confirmed by urine culture. Two additional infants, who had not been screened, were detected after clinical suspicion. All 24 infants were further investigated, and 3 (12.5%) had central nervous system involvement (including hearing impairment) and were offered intravenous ganciclovir for 6 weeks. Eighteen (82%) infants would not otherwise have been diagnosed.

Conclusions: The relatively low incidence of C-CMV detected in our screening program probably reflects the low sensitivity of cord blood screening. Nevertheless, this screening program reliably detected a non-negligible number of infants who could benefit from early detection. Other screening methods using saliva should be investigated further.

Objectives: To investigate the predictive value of BNP levels regarding the severity of the postoperative course in infants undergoing surgical repair of congenital heart disease.

Methods: We conducted a prospective comparative study. Plasma BNP levels in infants aged 1–12 months with congenital heart disease undergoing complete repair were measured preoperatively and 8, 24 and 48 hours postoperatively. Demographic and clinical data included postoperative inotropic support and lactate level, duration of mechanical ventilation, intensive care unit (ICU) and hospitalization stay.

Results: Cardiac surgery was performed in 19 infants aged 1-12 months. Preoperative BNP level above 170 pg/ml had a positive predictive value of 100% for inotropic score ≥ 7.5 at 24 hours (specificity 100%, sensitivity 57%) and 48 hours (specificity 100%, sensitivity 100%), and was associated with longer ICU stay (P = 0.05) and a trend for longer mechanical ventilation (P = 0.12). Similar findings were found for 8 hours postoperative BNP above 1720 pg/ml. BNP level did not correlate with measured fractional shortening.

Conclusions: In infants undergoing heart surgery, preoperative and 8 hour BNP levels were predictive of inotropic support and longer ICU stay. These findings may have implications for preplanning ICU loads in clinical practice. Further studies with larger samples are needed.

Background: Clefts of the lip and palate are the most common significant congenital birth anomaly of orofacial region. The condition may vary from a minor easily correctable cleft to a significant functional and cosmetic incapacitation. This is the first epidemiological study of orofacial clefts in the Negev region in Israel.

Objectives: To establish the frequency of cleft lip and palate in the population of the Negev, characterize the demographic features of affected individuals and find possible risk factors, compare the risk in two major population groups: Bedouin and Jewish in a well-defined geographic area, and determine whether there is a change over time in the birth of babies with facial clefts.

Methods: We conducted a retrospective survey of the Soroka Medical Center archives. The sample population comprised all 131,218 babies born at Soroka during the 11 year period 1 January 1996 to 31 December 2006. Statistical tests used Pearson's chi-square test, Student’s t-test and Spearman's correlation coefficient test according to the type of parameter tested.

Results: During the study period 140 babies were born with orofacial cleft. The overall incidence of cleft lip and palate was 1.067/1000. The incidence of facial clefts was 1.54/1000 among Bedouins and 0.48/1000 among Jews (P < 0.001). Cleft palate was significantly more frequent in female than male babies (P = 0.002). Over the study years we found a significant decrease in the incidence of facial clefts in the Bedouin population, with Spearman's correlation coefficient rank -0.9 (P < 0.01).

Conclusions: A significant decrease occurred in the incidence of facial clefts among Bedouin. This change may be attributed to prenatal care in the Bedouin Negev population as part of social and health-related behavior changes. The reduction in rates of congenital malformations, however, does not mean a reduction in the number of cases in a growing population. Also, with a modern western lifestyle, the expectancy and demand for reconstructive facial surgery and comprehensive care for these children are on the rise.

Background: The American Academy of Pediatrics recently published recommendations for the red reflex assessment in the newborn period to detect and treat ocular disorders as early as possible, and to prevent lifelong visual impairment and even save lives. The test is technically simple to perform, non-invasive, requires minimal equipment and can detect a variety of ocular pathologies including cataracts and retinal abnormalities. No specific national guidelines exist on this issue.

Objectives: To document the implementation of red reflex examination in routine neonatal care and present the findings.

Methods: Our clinical experience following implementation of the red reflex test into the newborn physical examination in a single center was reviewed. In addition, an electronic mail questionnaire was sent to all neonatology departments in Israel regarding the performance of the red reflex test.

Results: During 2007–2008, five infants were identified with congenital cataracts at days 2–6 of life prior to discharge from hospital. Surgery was performed in one infant at age 2 months and all infants underwent a thorough follow-up. The incidence of congenital cataract in our center was 1:2300. Less than half the neonatology departments have endorsed the AAP[1] recommendation and perform the red reflex test routinely.

Conclusions: Abnormal red reflex test after delivery enables a rapid ophthalmologic diagnosis, intervention and close follow-up. We recommend that red reflex screening be performed as part of the newborn physical examination if abnormal, an urgent ophthalmologic referral should be made. 

[1] AAP = American Academy of Pediatrics

Pathological gambling is classified in the DSM-IV-TR (Diagnostic and Statistical Manual of Mental Disorders) and in the ICD-10 (International Classification of Disease) as an impulse control disorder. The association between impulsivity and pathological gambling remains a matter of debate: some researchers find high levels of impulsivity within pathological gamblers, others report no difference compared to controls, and yet others even suggest that it is lower. In this review we examine the relationship between pathological gambling and impulsivity assessed by various neurocognitive tests. These tests – the Stroop task, the Stop Signal Task, the Matching Familiar Figures Task, the Iowa Gambling Task, the Wisconsin Card Sorting Test, the Tower of London test, and the Continuous Performance Test – demonstrated less impulsivity in gambling behavior. The differences in performance between pathological gamblers and healthy controls on the neurocognitive tasks could be due to addictive behavior features rather than impulsive behavior.

Background: The incidence of congenital heart defects, reported to be 5–8/1000 in term infants, is not well established in very low birth weight infants.

Objectives: To establish the incidence of congenital heart defects in VLBW[1] infants in the neonatal intensive care unit of our institution.

Methods: A retrospective analysis of the population in the NICU[2] at our institution was performed. VLBW (BW ≤ 1500 g) infants born between 2001 and 2006 who survived more than 48 hours were included in the study. Infants with clinical signs of heart disease underwent echocardiography.

Results: During the study period 437 VLBW live-born infants met the inclusion criteria. Of these, 281 (64.3 %) underwent echocardiography. CHD[3] was detected in 19 infants (4.4%, 95% confidence interval 2.4–5.4%), significantly higher than the incidence of 5–8/1000 in the general population (P < 0.0001). In the subgroup of 154 infants with BW < 1000 g there were 10 (6.5%) with CHD. In the subgroup of 283 infants with BW 100–-1500 g there were 9 (3.2 %, P = 0.19 vs. VLBW) with CHD.

Conclusions:  Our observations show an increased incidence of CHD in VLBW neonates, as compared to the general population. Since not all infants underwent echocardiography, and minor cardiac defects may have been missed in our VLBW infants, the true incidence may be higher than reported here.

Background: Although the comprehensive evaluation of the fetal heart includes echocardiography by an experienced pediatric cardiologist, economic constraints sometimes dictate the need to select patients.

Objectives: To analyze the usefulness of fetal echocardiography in the detection of congenital heart disease according to the referral indication.

Methods: This retrospective survey relates to all 3965 FE studies performed in our center from January 2000 to December 2004. The diagnosed cardiac anomalies were classified as significant and non-significant malformations. All FE[1] studies were done by a single operator (A.L.) at Meir Medical Center, a referral center for a population of about 400,000. The 3965 FE studies were performed for the following indications: abnormal obstetric ultrasound scans, maternal and family history of cardiac malformations, medication use during the pregnancy, and maternal request. The relative risk of detecting CHD[2] was calculated according to the various referral indications.

Results: Overall, 228 (5.8%) cases of CHD were found. The most common indication for referral was suspicion of CHD during a four-chamber view scan in a basic system survey or during a level II ultrasound survey. No correlation was found between maternal age and gestational age at the time of scanning and the likelihood of finding CHD.

Conclusions: Our data suggest that a suspicious level-II ultrasound or the presence of polyhydramnios is an important indication for FE in the detection of significant CHD.