Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome.

We report here two brothers with an intellectual disability (ID), dysmorphic features, speech delay, and congenital hypotonia, with chromosomal microarray confirmed. However, two different de novo chromosomal aberrations; unbalanced translocations (13;18) (q34,q23) were found in the elder boys and de novo 6q25 deletion in the second boy. The boy with 13q34 microdeletion and 18q23 microduplication suffered from ID, obesity, dysmorphic features, speech delay, and seizure while the one with 6q25 deletion presented with ID and speech delay. Both parents were tested and were normal. The third child had mild hypotonia at infancy, which improved later. Whole-exome sequencing (WES) showed the three boys carried a likely benign variant in MED12, inherited from the healthy, asymptomatic mother. The father suffered from rheumatoid arthritis and was on chemotherapy during the conception of the first two affected boys. This report places emphasis on the use of a chromosomal microarray in patients with ID, even with familial cases, and reports the paternal use of methotrexate.

Does nephrotoxicity develop less frequently when vancomycin is combined with imipenem-cilastatin than with meropenem? A comparative study.

Introduction: Nephrotoxicity is a frequent complication of vancomycin therapy. Experimental studies in different animal species have demonstrated the attenuation of vancomycin-associated nephrotoxicity with cilastatin administration. This study aimed to evaluate if imipenem-cilastatin attenuates vancomycin-associated nephrotoxicity, in patients treated with combinations of vancomycin and carbapenems. Methods: This retrospective, propensity-score matched study was conducted at King Faisal Specialist Hospital and Research Centre, Riyadh and Jeddah. Nephrotoxicity was compared in patients who received imipenem-cilastatin + vancomycin or meropenem + vancomycin. Patients with no history of renal disease who received imipenem-cilastatin + vancomycin or meropenem + vancomycin for a minimum of 72 h, from 1 January 2017 to 31 December 2017, were included. Nephrotoxicity was defined according to the RIFLE criteria (Risk, Injury, Failure, Loss, End-stage renal disease) if sustained for least 72 h. Results: A total of 227 patients were included in the analysis, consisting of 121 patients in the imipenem-cilastatin + vancomycin group, and 106 patients in the meropenem + vancomycin group. In the unmatched data set the rate of nephrotoxicity was 8.2% in imipenem-cilastatin + vancomycin group and 20.7% in the meropenem + vancomycin group (p = .007). Logistic regression analysis showed that imipenem-cilastatin + vancomycin therapy was associated with a 56% lower rate of nephrotoxicity compared to meropenem + vancomycin therapy. Propensity-score matching resulted in rates of nephrotoxicity of 6.2% and 17.1% in the imipenem-cilastatin + vancomycin group and the meropenem + vancomycin groups, respectively (p = .034). Conclusion: Vancomycin-associated nephrotoxicity developed less frequently when vancomycin was combined with imipenem-cilastatin than when combined with meropenem.