Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.

Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic pathogenic germline variants in the mismatch repair genes. Diagnosis and management of this syndrome is challenging, especially in low-resource settings. This study describes a patient diagnosed with colorectal cancer and grade 3 astrocytoma at the age of 11 and 12 respectively. Immunohistochemistry analysis showed a loss of MSH2 and MSH6 protein expression in CRC tissues of the patient. We identified by Targeted Exome Sequencing a homozygous pathogenic germline variant in exon 9 of the MSH6 gene (c.3991 C > T; p.Ala1268Glyfs*6). Genetic investigation of the family showed that the father was heterozygous for the identified pathogenic variant while the brother was wild type for this variant. Our study highlights the importance of a correct and timely diagnosis of CMMRD which can have implications for treatment. It also underlines the imperative need to enhance awareness, diagnostic standards, and surveillance that are crucial for patients and their families.

Airway management in a rare case of congenital palate teratoma with a cleft palate: A case report.

Airway management in neonates is difficult because of the risk of rapid hypoxia. It presents a challenge even for an experienced anesthesiologist. Oral tumors in neonates can obstruct the airway or feeding problems in the newborn. Surgical excision is the treatment of choice but these tumors can seriously worsen the conditions of intubation. To surmount these difficulties, a particular multidisciplinary approach and special precautions are needed. We describe the airway management and precautions taken in the anesthesia for surgical removal of a case of large congenital palate teratoma associated with a wide cleft palate in a 25-day-old girl. Impossible intubation was predicted on magnetic resonance imaging. The difficult airway management cart as well as an otorhinolaryngologist skilled in performing emergency tracheostomies in neonates were available. The patient was intubated by conventional laryngoscopy under sevoflurane inhalation anesthesia. The tumor was successfully resected. This case poses a challenge for managing the airway because of the possibility of obstruction of the airway and the difficulty of the airway that radiological exams have allowed us. So, a multidisciplinary team effort is needed for successful neonatal airway management.

A Case of Intra-Amniotic Umbilical Vein Varices Misdiagnosed as an Omphalocele.

Background: Intra-amniotic umbilical vein varices are characterized by a focal dilatation of the extra abdominal umbilical vein. Case report: We report a full-term baby female with extra-abdominal umbilical vein varices misdiagnosed clinically as an omphalocele. The umbilical vein was ligated and excised near the level of the liver. The infant died one day after surgery due to extrinsic compression of the renal pedicle by a massive thrombus, resulting in severe renal failure and life-threatening hyperkalemia despite intensive resuscitation. Conclusion: Large intra-amniotic umbilical vein varices can be clinically misdiagnosed as an omphalocele. Their resection near the level of the fascia, as with normal umbilical veins, could be a better management with a better prognosis.

Predictors of perioperative respiratory adverse events among children with upper respiratory tract infection undergoing pediatric ambulatory ilioinguinal surgery: a prospective observational research.

Objectives: Anesthesia for children with an upper respiratory tract infection (URI) has an increased risk of perioperative respiratory adverse events (PRAEs) that may be predicted according to the COLDS score. The aims of this study were to evaluate the validity of the COLDS score in children undergoing ilioinguinal ambulatory surgery with mild to moderate URI and to investigate new predictors of PRAEs. Methods: This was a prospective observational study including children aged 1-5 years with mild to moderate symptoms of URI who were proposed for ambulatory ilioinguinal surgery. The anesthesia protocol was standardized. Patients were divided into two groups according to the incidence of PRAEs. Multivariate logistic regression was performed to assess predictors for PRAEs. Results: In this observational study, 216 children were included. The incidence of PRAEs was 21%. Predictors of PRAEs were respiratory comorbidities (adjusted OR (aOR)=6.3, 95% CI 1.19 to 33.2; p=0.003), patients postponed before 15 days (aOR=4.3, 95% CI 0.83 to 22.4; p=0.029), passive smoking (aOR=5.31, 95% CI 2.07 to 13.6; p=0.001), and COLDS score of >10 (aOR=3.7, 95% CI 0.2 to 53.4; p=0.036). Conclusions: Even in ambulatory surgery, the COLDS score was effective in predicting the risks of PRAEs. Passive smoking and previous comorbidities were the main predictors of PRAEs in our population. It seems that children with severe URI should be postponed to receive surgery for more than 15 days.

Complications and its risk factors of percutaneous subclavian vein catheters in pediatric patients: enhancing the outcomes of a university hospital in a low-income and middle-income country.

Objective: Assessing central venous catheter-related complications with regular feedback and investigating risk factors are mandatory to enhance outcomes. The aim of this study is to assess our experience in the management of pediatric subclavian vein catheters (SVCs) and to investigate the main risk factors for complications. Methods: In this prospective observational study, we included children aged 3 months to 14 years who underwent infraclavicular subclavian vein catheterization consecutively using the anatomic landmark technique. Patients were divided into two groups: group 1 included complicated catheters and group 2 included non-complicated catheters. The management protocol was standardized for all patients. After comparing the two groups, univariate and multivariate logistic regression were used to investigate the risk factors for complications. Results: In this study, we included 134 pediatric patients. The rate of complications was 32.8%. The main complications were central line-associated bloodstream infection (63.6%), bleeding and/or hematoma (22.7%), mechanical complications (13.6%), and vein thrombosis (13.6%). After adjustment for confounding factors, predictors of catheter-related complications were difficult insertion procedure (adjusted odds ratio (aOR)=9.4; 95% confidential interval (CI): 2.32 to 38.4), thrombocytopenia (aOR=4.43; 95% CI: 1.16 to 16.86), comorbidities (aOR=2.93; 95% CI: 0.58 to 14.7), and neutropenia (aOR=5.45; 95% CI: 2.29 to 13.0). Conclusions: High rates of complications were associated with difficult catheter placement and patients with comorbidities and severe thrombocytopenia. To reduce catheter-related morbidity, we suggest an ultrasound-guided approach, a multidisciplinary teaching program to improve nursing skills, and the use of less invasive devices for patients with cancer.

Risk factors of early mortality after neonatal surgery in Tunisia.

BACKGROUND: Research concerning factors of death after neonatal surgery is scarce. Insight into mortality might improve perioperative care. This study aimed to identify predictive factors of mortality after neonatal surgery in a low income country (LIC). METHODS: Charts of all newborn patients who underwent surgical procedures under general anesthesia during the neonatal period in our department of pediatric surgery between January 2010 and December 2017 were reviewed. We used univariate and multivariate analysis to evaluate perioperative variables potentially predictive of early postoperative mortality. RESULTS: One hundred eighty-two cases were included in the study: 41 newborns (28.6%) were premature (<37 weeks of gestation) and 52 (22.5%) weighed less than 2.5 kg. The most commonly diagnosed conditions were esophageal atresia (24%) and bowel obstruction (19%). Forty-four patients (24%) died during hospitalization. The highest rate of mortality was observed for congenital diaphragmatic hernia. Univariate analysis showed that perinatal predictive variables of mortality were prematurity, low birth weight, the necessity of preoperative intubation, and duration of surgery more than 2 h. Logistic regression showed three independent risk factors, which are the duration of surgery, low birth weight and the necessity of preoperative intubation. CONCLUSION: The overall mortality in infants undergoing neonatal surgery is still high in LICs. Knowledge of independent risk factors of early mortality may help clinicians to more adequately manage the high-risk population. TYPE OF THE STUDY: Clinical research paper. LEVEL OF EVIDENCE: III.

Laparoendoscopic Single-Site (LESS) Surgery in Pediatric Urology: A 4-Year Experience.

OBJECTIVE: The aim of the study was to assess the feasibility and outcomes of pediatric urological laparoendoscopic single-site (LESS) surgery. MATERIALS AND METHODS: We retrospectively collected charts of all patients who underwent LESS procedures in our department from January 2013 to December 2016. Data included demographic characteristics, type of procedures, intraoperative details, hospital stay, and complications. The umbilicus was used as the surgical site in all cases. All procedures were performed with a homemade glove port and standard straight 3- or 5-mm laparoscopic instruments. RESULTS: Seventy-three patients (55 males, 18 females) were identifed. Procedures included 46 orchidop-exies, 21 pyeloplasties, 8 varicocelectomies, 3 nephrecto-mies, 3 nephroureterectomies, 3 orchiectomies, and 1 renal hydatid cyst treatment. Median operative time for the entire cohort was 47 min (range 26-156 min). There was no signifcant intraoperative blood loss. No conversion to conventional laparoscopy or open surgery was needed. All patients required paracetamol postoperatively. The mean follow-up was 18 months. Two patients had testicular atrophy after a Fowler-Stephens procedure and 1 patient had testicular reascension. Cosmetic results were excellent. Forty-five (62.5%) patients were discharged on the day of surgery. CONCLUSION: Our study demonstrated that LESS surgery using our glove port technique and conventional laparoscopic instruments is a feasible and safe technique for the surgical management of various pediatric urological conditions.

Is there a Place for Prebiotics in the Management of Neonatal Inguinal Hernia? A Preliminary Study.

The objective of this study was to assess the place of prebiotics in the management of neonatal inguinal hernia. Boys with a diagnosis of unilateral non-complicated inguinal hernia, aged less than 40 days, were prospectively followed from January 2012 to December 2014. Clinical and psychiatric data and outcomes were collected before and after prebiotics (Primalac AC) administration. Ninety-eight patients were included. There were 75 inguinal hernias and 23 inguino-scrotal hernias. Before prebiotics administration 72.2% of infants had abdominal distention and 98% had colic. After prebiotics, abdominal distention and colic regressed in 85.2% and 73.2% of patients, respectively. Hernias disappeared clinically in 66.3% of cases. The factors associated with the disappearance of hernias were the type of the hernia (p<0.001), colic (p<0.001), and abdominal distention (p<0.001). Prebiotics would be a new adjunct in the management of neonatal inguinal hernia. They decrease colic and abdominal distention, which seems helpful to prevent strangulation and probably get spontaneous resolution of small hernias.

Epidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn.

Epidermolysis bullosa (EB) is an inherited blistering disorder characterized by the fragility of the skin and mucous membranes. Extracutaneous manifestations can be associated. We report a unique concomitant occurrence of EB and hypertrophic pyloric stenosis in a newborn.