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.

Risk factors for adverse outcomes after pediatric pyeloplasty: A retrospective cohort study.

PURPOSE: To identify the risk factors for adverse outcomes after pediatric pyeloplasty. METHODS: We conducted a retrospective review of all children under the age of 14 years who underwent primary pyeloplasty for unilateral ureteropelvic junction (UPJ) obstruction at a single teaching hospital in Tunisia between January 1, 2013, and December 31, 2022. RESULTS: A total of 103 patients were included. Median age of patients at surgery was 27 months (interquartile range [IQR], 13-44). On ultrasound, median renal pelvic anteroposterior diameter was 3.2 cm (IQR, 2.3-4), and the median renal cortex thickness (RCT) was 2.5 mm (IQR, 2-3.5). Median differential renal function (DRF) on preoperative radionuclide renal scan was 40% (IQR, 30-46). Postoperative adverse outcomes occurred in 28 patients (27.2%). These included 19 cases of urinary tract infections (UTIs), 11 cases of UPJ restenosis, four cases of UPJ leakage, two cases of urinoma, and two cases of diversion-related complications. Multivariate logistic regression analysis revealed two factors significantly and independently related to postoperative negative outcomes: RCT <3 mm and DRF > 50%. CONCLUSION: Our study demonstrated that preoperative RCT on ultrasound of less than 3 mm and preoperative DRF on radionuclide renal scan of more than 50% were independent risk factors for adverse outcomes following pediatric pyeloplasty. These factors could be of interest in identifying, early on, patients who will develop postoperative negative outcomes, giving them more attention and support, and explaining the prognosis to the patient and family.

Predictive Factors for Mortality in Pre-Term Neonates with Necrotizing Enterocolitis: A Retrospective Cohort Study.

Background: Necrotizing enterocolitis (NEC) is a serious neonatal condition. Over the last three decades, there has been progress in neonatal intensive care with an increase in the incidence of pre-term births. This has led to an increase in the incidence of NEC. However, research studies regarding NEC outcomes in low-income countries are scarce. Our study aimed to assess predictive factors for mortality in patients with NEC in a single center in Tunisia. Patients and Methods: We conducted a retrospective data collection through a review of the patients' medical records. All neonates with a medical or surgical management of NEC between January 1, 2010 and March 31, 2022 were included. Results: A total of 102 neonates were included with the overall survival of 47%. Outcomes of the univariable analysis showed that patients in the deceased group had lower gestational age, lower five-minute Apgar score, lower birth weight, and lower platelet count than those in the survivor group. Multivariable logistic analyses demonstrated that gestational age <32 weeks (p = 0.024; odds ratio [OR], 2.5), five-minute Apgar score <8 (p = 0.017; OR, 3.621), birth weight <1,500 g (p = 0.001; OR, 4.136), platelet count <50,000/mm3 (p = 0.029; OR, 2.5), Bell's stage 3 (p = 0.035; OR, 2.496), and sepsis during hospitalization (p < 0.001; OR, 5.971) were associated with mortality in neonates with NEC. Conclusions: Our study showed that gestational age <32 weeks, five-minute Apgar score <8, very low birth weight, severe thrombocytopenia, Bell's stage 3, and sepsis during hospitalization were predictive factors for mortality in neonates with NEC. These factors would be useful to refine treatment modalities for better disease outcomes.