Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. CASE: Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation. CONCLUSIONS: We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.

Late effects of osteosarcoma and its treatment in pediatric patients: A single-center experience.

PURPOSE: The success of osteosarcoma treatment strategies improved survival rates. The need of diagnosing and managing adverse effects is increasing. We aimed to investigate the outcomes and late results of pediatric osteosarcoma treatment in the survivors. METHODS: Out of osteosarcoma patients (n=54), we assessed the long-term outcomes of survivors (n=39) diagnosed from 2002-2018. We compared the survivors' (n=39) health status (cardiac, renal, neurologic, psychiatric, physical limitations), pain, and psychosocial outcomes (education level, smoking history, and alcohol consumption, marital status, parenthood, health care services usage) with their siblings (n=77). The quality of life and overall survival of amputee and nonamputee survivors are also compared. We provided the retrospective data from the files and phone calls and used Kaplan Meier survival analysis, Ki-Kare, and t-test. Results The overall survival (OS) of children with osteosarcoma (n=54) who survived at 2 years and 5 years from the diagnosis was 90.7 and 77.8%, respectively. These patients achieved 2- year event-free survival (EFS) of 70.4% and 5-year EFS of 57.4%. Thirty-nine survivors of osteosarcoma were compared with 77 sibling controls. Osteosarcoma survivors were more likely than the sibling cohort to report adverse health status containing nephrotoxicity (5.1 vs 0%) (p=0.045), cardiotoxicity (10.3 vs 0%)(p<0.01), neurotoxicity (5.1 vs 1.7%) (p=0.045), activity limitations (64 vs 1.3%)(p<0.01) and pain (12.8 vs 0%) (p=0.002). Survivors' educational status (p=0.014), marital status (5.1 vs 32.5%)(p=0.001), employment (2.6 vs 28.6)(p < 0.001), parenthood (0 vs 29.9%)(p < 0.001) were negatively affected compared with the control group. The prevalence of smoking, alcohol use, psychiatric treatment, and deafness were similar. The amputees (n=9) had an OS rate of 55.6%, and the nonamputees (n=45) had 75.6%. We found similar quality of life results between them. CONCLUSION: Long-term survivors of pediatric osteosarcoma are at significant risk of chronic health conditions, physical limitations, and pain up to 16 years follow up. Follow-up clinics and clinical guidelines are required for the survivors of children with osteosarcoma.

The Incidence of Delirium at the Postoperative Intensive Care Unit in Adult Patients.

OBJECTIVE: In this study, we aimed to determine the risk factors and the incidence of delirium in patients who were followed postoperatively in our surgical intensive care unit for 24 h using the confusion assessment method (CAM). METHODS: After obtaining approval from the ethics committee, 250 patients were included in the study. Patients who were operated under general anaesthesia or regional anaesthesia and followed in the surgical intensive care unit were evaluated by the Ramsay Sedation Scale on the first postoperative day. CAM was applied to the patients who had a Ramsey Sedation Score of ≤4. Patients' age, gender, American Society of Anesthesiologists (ASA) scores, preoperative risk factors, type of anaesthesia, operation time, intra-operative procedures, pain scores evaluated by the visual analogue scale (VAS) and postoperative analgesia methods were recorded. RESULTS: The incidence of delirium was found to be 18.4%. The average age of patients who developed delirium was greater than the others (68.8±12.7 and 57.6±12, p=0.001, respectively). It was observed that a one-unit increase in the ASA score resulted in a 3.3-fold increase in the risk of delirium. The incidence of delirium in patients undergoing regional anaesthesia was 34.6%, whereas it was 16.5% in patients receiving general anaesthesia (p=0.024). The existence of preoperative diabetes mellitus (DM) and chronic obstructive pulmonary disease (COPD) was shown to improve the development of delirium (p<0.05). Delirium incidence was significantly higher in patients who were administered meperidine for postoperative analgesia (p=0.013). The VAS scores of patients who developed delirium were found to be significantly higher (p=0.006). CONCLUSION: As a result, we found that older age, high ASA score, preoperative DM and COPD are important risk factors for the development of delirium. Regional anaesthesia, high postoperative pain scores and meperidine use were observed to be associated with the development of delirium. In the postoperative period, addition of CAM, a simple measurement technique, to the daily follow-up forms can provide the early recognition of delirium, which is often underdiagnosed. We think that identification and prevention of effective risk factors have the primary importance for postoperative delirium.