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Consanguinity, prevalent in certain populations because of cultural and social factors, significantly increases the risk of genetic autosomal recessive disorders. In Lebanon, consanguineous marriages constitute 35.5% of unions, with first cousin marriages being the most common. This study aims to develop a model to predict consanguinity status using total runs of homozygosity (ROH) size derived from exome sequencing data. In this study, a cohort of 784 Lebanese individuals was analyzed, with consanguinity labels assigned based on pedigree information. ROHs were detected from exome sequencing data using AutoMap. The analysis focused on 521 subjects for whom the consanguinity or nonconsanguinity label was clearly determined, leading to the development of two logistic regression models: one including outliers (accuracy, 91%) and one excluding them (accuracy, 94%). The second model established specific ROH thresholds for categorizing consanguinity: nonconsanguineous [<40.28 megabases (Mb)], uncertain (40.28 to 79.17 Mb), probable consanguinity (79.17 to 118.06 Mb), and consanguineous (>118.06 Mb). This study provides a valuable tool for clinical genetics in populations with high consanguinity rates, offering insights into the genetic risks associated with consanguinity and aiding in the identification and counseling of affected individuals. Moreover, the current findings underline the importance of population-specific thresholds in accurately assessing consanguinity status., Competing Interests: Disclosure Statement None declared., (Copyright © 2024. Published by Elsevier Inc.)

Aim: To determine the frequency and possible associated dietary and environmental factors of functional constipation (FC) among children in Lebanon followed at a single pediatric health system. Method: A prospective cross-sectional study was conducted in all pediatrics clinics at the American University of Beirut Medical Center (AUBMC). Children aged 2-7 years presenting for a well-child visit were recruited. Data relating to the child's bowel habits and other history items were obtained from parental questionnaires. Results: The mean age of the 172 recruited participants was 4.94 years with 56.4% being males. FC was present in 32.6% of the participants. Although there was no difference in the frequency of FC based on age and gender, the peak frequency of FC was at 5 years. The daily frequency of withholding stools was 64.3%, and 46.6% of the children with FC always experienced straining while stooling for the past 2 months. Decreased physical activity and diet were not significantly associated with FC. Conclusion: The present study shows that 32.6% of children aged 2-7 years in Lebanon suffer from constipation while only 51.7% of the recruited children's physicians inquire about the child's bowel movement during the well check visit. These numbers highlight the need to raise more awareness among pediatricians on the need to screen for constipation during clinic visits as a standard of care practice., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Theresia Tannoury et al.)

Objectives: A recent study from Germany found that survival after respiratory extracorporeal life support (ECLS) was lower among patients 10-20 years old than 20-30 years old. The objective of this study was to compare survival between teenage and young adult patients who receive respiratory ECLS., Design: Retrospective cohort study., Setting: Extracorporeal Life Support Organization registry, an international prospective quality improvement database., Patients: All patients ages 16-30 years cannulated for respiratory indications from 1990 to 2020 were included. Patients were divided into two groups, teens (16-19 yr old) and young adults (20-30 yr old)., Interventions: None., Measurements and Main Results: Primary outcome was survival to discharge. Variables were considered for the multivariate logistic regression model if there was both a statistically significant difference (p ≤ 0.05) and a clinically meaningful absolute difference between the groups. A total of 5,751 patients were included, of whom 1,653 (29%) were teens and 4,098 (71%) were young adults. Survival to discharge was higher in young adults than teens, 69% versus 63% (p < 0.001). Severity of illness was higher among teens; however, survival within each stratum defined by Pao2/Fio2 ratio was higher in young adults than in teens. Use of venoarterial ECLS was higher in teens than in young adults, 15% versus 7%, respectively. Teens were more likely to receive high-frequency oscillatory ventilation and this therapy was associated with a longer time from admission to ECLS initiation. After adjusting for variables that differ significantly between the groups, the odds ratio for survival in young adults compared with teens was 1.14 (95% CI, 1.004-1.3)., Conclusions: In this large multicenter retrospective study, mortality was higher in teens than in young adults who received respiratory ECLS. This difference persisted after adjusting for multiple variables and the mechanism underlying these findings remains unclear., Competing Interests: Dr. Thiagarajan’s institution received funding from the U.S. Department of Defense; he received funding from the Extracorporeal Life Support Organization and the Society of Critical Care Medicine. The remaining authors have disclosed that they do not have any potential conflicts of interest., (Copyright © 2023 by the Society of Critical Care Medicine and Wolters Kluwer Health, Inc. All Rights Reserved.)

Introduction: The incidence of acute kidney injury (AKI) in pediatric patients following cardiac surgery varies between 15 and 64%, with a mortality rate of 10-89% among those requiring dialysis. This variation in the incidence and mortality of AKI across studies is probably due to the inconsistent definitions used for AKI. The purpose of this study is to present our experience with AKI post-cardiac surgery with emphasis on predisposing or aggravating factors. Patients and Methods: We evaluated the incidence of AKI using the KDIGO criteria in 150 infants and children undergoing cardiac surgeries between 2015 and 2017. Post-operatively, all patients were admitted to the pediatric intensive care unit (PICU) at a tertiary care center in a developing country. This is a retrospective chart review in which data collected included age, gender, type of heart disease, prior cardiac surgeries, RACHS-1 category, and pre- and post-operative creatinine levels. Neonates were not included in this study. Results: Six percent of the studied patients were below 1 year of age, 84% 1-10 years, and 10% 10-18 years. Fourteen patients (9.3%) developed AKI. Patients with cyanotic heart disease were more prone to develop AKI (78%) compared to those with non-cyanotic heart disease (44%). Children with AKI had a higher length of stay in PICU, 2.56 ± 1.44 vs. 4 ± 2.66 ( p - 0.02). Serum lactic acid was higher in patients who developed AKI with a mean value of 6.8 ± 6.9 vs. 2.85 ± 1.55 mmol/l in the non-AKI group ( p - 0.03). Lower hemoglobin levels and hyperlactic acidemia were significantly more prevalent in the AKI group. There were five deaths in this series (3.3%), and four of those (80%) were in the AKI group. Conclusion: Using the KDIGO criteria, the incidence of AKI in infants and children following cardiac surgery was 9.3%. This is slightly lower than in previously published studies where the range was between 15 and 64%. Children with cyanotic cardiac disease, hyperlactic acidemia, and anemia were more prone to developing AKI. Identifying patients at risk might help decrease the risk of post-operative AKI., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Aoun, Daher, Daou, Sanjad, Tamim, El Rassi, Arabi, Sharara, Bitar, Assy, Bulbul, Degheili and Majdalani.)

Background: Developing countries are profoundly affected by the burden of congenital heart disease (CHD) because of limited resources, poverty, cost, and inefficient governance. The outcome of pediatric cardiac surgery in developing countries is suboptimal, and the availability of sustainable programs is minimal. Aim: This study describes the establishment of a high quality in-situ pediatric cardiac surgery program in Lebanon, a limited resource country. Methods: We enrolled all patients operated for CHD at the Children's Heart Center at the American University of Beirut between January 2014 and December 2018. Financial information was obtained. We established a partnership between the state, private University hospital, and philanthropic organizations to support the program. Results: In 5 years, 856 consecutive patients underwent 993 surgical procedures. Neonates and infants constituted 22.5 and 22.6% of our cohort, respectively. Most patients (82.6%) underwent one cardiac procedure. Our results were similar to those of the Society of Thoracic Surgeons (STS) harvest and to the expected mortalities in RACHS-1 scores with an overall mortality of 2.8%. The government (Public) covered 43% of the hospital bill, the Philanthropic organizations covered 30%, and the Private hospital provided a 25% discount. The parents' out-of-pocket contribution included another 2%. The average cost per patient, including neonates, was $19,800. Conclusion: High standard pediatric cardiac surgery programs can be achieved in limited-resource countries, with outcome measures comparable to developed countries. We established a viable financial model through a tripartite partnership between Public, Private, and Philanthropy (3P system) to provide high caliber care to children with CHD., (Copyright © 2020 El Rassi, Assy, Arabi, Majdalani, Yunis, Sharara, Maroun-Aouad, Khaddoum, Siddik-Sayyid, Foz, Bulbul and Bitar.)

Aim: The ECMO (extracorporeal membrane oxygenation) Program at the American University of Beirut Medical Center was established in November 2015 as the first program serving adult and pediatric population in a low-resource setting. The aim of the study is to describe the challenges faced during the establishment of the program and factors leading to its success., Methods: The program establishment is described. The preparation phase, included the strategic, financial, and clinical planning by administration, nursing, and a multidisciplinary team of physicians. The training and education phase included all the involved nurses, perfusionists, and physicians. Concerns were heard from various stakeholders, and the challenges were analyzed and discussed., Results: The preparation committee chose the adequate equipment, responded to the concerns, defined roles and responsibilities through credentialing and privileging, wrote policies and protocols, and established a strategy to decide for the ECMO indication. Selected team of nurses, physicians, and perfusionists are identified and trained locally, and abroad. A full-time ECMO physician was recruited to launch the program. Twelve patients (6 adults, 3 children, and 3 neonates) were supported by ECMO, for cardiac and respiratory indications. Eleven patients were supported by veno-arterial ECMO, and 1 patient (a neonate) with veno-venous ECMO. Overall, 75% survived to decannulation and 41% survived to discharge., Conclusion: With limited human and financial resources, new ECMO centers need to carefully establish selection criteria that may differ from those used in developed countries. Indications should be discussed on a case by case basis, taking into account clinical, social, and financial issues. This experience might help other institutions in developing countries to build their own program despite financial and human limitations.

NAVA may improve veno-venous ECMO weaning in children. This is a retrospective small series, describing for the first time proof-of-principle for the use of NAVA in children on VV ECMO. Six patients (age 1-48 months) needed veno-venous ECMO. Controlled conventional ventilation was replaced with assisted ventilation as soon as lung compliance improved, and could trigger initiation and termination of ventilation. NAVA was then initiated when diaphragmatic electrical activity (EAdi) allowed for triggering. NAVA was possible in all patients. Proportionate to EAdi (1.8-26 μV), initial peak inspiratory pressures ranged from 21 to 34 cm H 2 O, and the tidal volume (Vt) from 3 to 7 ml/kg. During weaning, peak pressures increased proportionally to EAdi increase (5.2-41 μV), with tidal volumes ranging from 6.6 to 8.6 ml/kg. ECMO was weaned after a median time of 1.75 days on NAVA. Following ECMO weaning, the median duration of mechanical ventilation, and intensive care unit stay were 4.5 days, and 13.5 days, respectively. Survival to hospital discharge was 100%. In conclusion, combining NAVA to ECMO in paediatric respiratory failure is safe and feasible, and may help in a smoother ECMO weaning, since NAVA allows the patient to drive the ventilator and regulate Vt according to needs.

In diffuse forms of arteriovenous malformation following Fontan procedure, "classical" medical therapy, inhaled nitric oxide and sildenafil, may play a role, until re-direction of hepatic flow to pulmonary circulation cures it. However, in refractory cases, as reported in our 2-year-old patient, unusual medications such as calcium channel blockers can be tried and continued if patients respond adequately.

We report the case of a 17-day-old infant with severe pertussis for whom the early initiation of veno-arterial extra corporeal membrane oxygenation and leukodepletion strategies (exchange transfusion and leukofiltration) allowed to reduce leukocytosis and pulmonary hypertension, thus leading to survival. These invasive techniques can be considered when severe pulmonary hypertension complicates hyperleukocytosis in neonates.

Background: Children with dilated cardiomyopathy in advanced heart failure may spend a long time awaiting heart transplantation. Consequently, mechanical circulatory support is sometimes required as a bridge to transplantation. Levosimendan, a positive inotropic agent, has been reported to be safe and efficient for the treatment of paediatric heart failure., Aims: To report our experience with levosimendan in children with decompensated dilated cardiomyopathy., Methods: Paediatric patients with dilated cardiomyopathy on the transplant waiting list and with criteria for mechanical support were included in this single-centred retrospective study. Each patient received at least one 24-hour infusion of levosimendan before mechanical circulatory support was considered. Biological and echocardiographic data were analysed., Results: Six patients were included over a 24-month period. The median age was 25.5months (7.7-34.2months); 82 infusions were performed. Median B-type natriuretic peptide concentration decreased significantly between days 0 and 2 (2443ng/L [1458-3819ng/L] vs 1358ng/L [1025-2534ng/L]; P=0.003). While only a trend was noted in left ventricular ejection fraction improvement (P=0.054 by Simpson's method and P=0.068 by the Teicholz method), the subaortic velocity time integral rose significantly between days 0 and 8 (12.8cm/s [10-14.5cm/s] vs 15.3cm/s [14.3-16.9cm/s]; P=0.041)., Conclusions: Levosimendan seems to improve haemodynamics in children with decompensated dilated cardiomyopathy; repeated infusions may delay the need for mechanical circulatory support while awaiting heart transplantation. This therapeutic agent should be systematically considered in this setting, in addition to conventional inotropic drugs., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)