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Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that CREBBP, SMARCA4, UBA2, and USP9X play a role in diaphragm development.

We report the results of monolateral dual kidney transplantation with grafts with multiple arteries. Among the 42 monolateral DKT performed in a seven-yr period, 12 (28.5%) patients received renal grafts with multiple arteries. In six patients, the accessory arteries were anastomosed end-to-side or side-to-side on the aortic patch. In six patients, with three or more accessory arteries, a vascular reconstruction with an inferior vena cava patch was performed, before implanting the kidney. There were no intraoperative complications in the entire series, and there were no immediate vascular complications. Vascular reconstruction of kidneys with multiple arteries may be performed safely even in monolateral dual kidney transplantation. Inferior vena cava may be an attractive alternative in vascular reconstruction for kidneys with multiple arteries.

Visceral leishmaniasis (VL) is a rare complication of kidney transplantation, with

Reported rates of positive preservation fluid cultures range from 5% to 23%, with fungi accounting for 2-10% of all positive cultures. We report the case of a kidney transplant recipient who received a graft with preservation fluid contaminated by Candida albicans, who developed acute renal failure due to ureteral obstruction by fungus balls. The patient was treated with voriconazole with complete restoration of graft function. This rare clinical entity demonstrates the usefulness of pre-transplant cultures of preservation fluid, in order to identify a group of patients who could benefit from antifungal prophylaxis therapy and thereby prevent the need for graft nephrectomy.