Coronavirus disease 2019 vaccine in pediatric post-kidney transplantation.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and the resulting disease, coronavirus disease 2019 (COVID-19), have spread to millions of persons worldwide. Many vaccines have been developed; however, their efficacy in pediatric solid organ transplant recipients is yet to be determined.

Methods: This is a prospective observational, non-interventional single-center study on the safety and efficacy of a COVID-19 vaccine (BNT162b2) in pediatric kidney transplant recipients.

Large for size in pediatrics liver transplant using left lateral segment grafts: A single center experience.

Background: There are still controversies in using the large left lateral segment in pediatrics LT, with the possibility of the problem of LFS grafts, and the use of monosegmental or reduced liver grafts in small infants. This study aimed to evaluate our experience with LFSG in pediatrics LT.

Methods: A cohort retrospective analysis was conducted including pediatric recipients who underwent LT between January 2011 and October 2019.

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

Background And Aims: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.

Feasibility of Full-Right/Full-Left Split-Liver Transplant in Pediatric Deceased Donors for Pediatric Recipients.

This case report describes the first ex situ full-right/full-left splitting of a liver from a pediatric deceased donor in the Middle East with an excellent outcome for both recipients. The left lateral split-liver transplant requires division of the deceased donor liver into a left lateral lobe for a pediatric recipient and an extended right lobe for an adult recipient, thus producing only 1 graft for a pediatric recipient. Full-right/full-left liver transplant, which splits the liver along the line of Cantlie, is a much more complex and challenging surgery, even though the technique is fully developed, and is theoretically able to produce 2 sizeable grafts for 2 pediatric recipients.

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated individuals with similar phenotypes. Here, we expand on our previous effort to exploit the power of autozygosity to produce homozygous pathogenic variants that are otherwise very difficult to encounter in the homozygous state due to their rarity.

Safety and Feasibility Report of Robotic-assisted Left Lateral Sectionectomy for Pediatric Living Donor Liver Transplantation: A Comparative Analysis of Learning Curves and Mastery Achieved With the Laparoscopic Approach.

Background: There is a growing interest in left lateral sectionectomy for donor hepatectomy. No data are available concerning the safety of the robotic (ROB) approach.

Methods: A retrospective comparative study was conducted on 75 consecutive minimally invasive donor hepatectomies.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates.

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Purpose: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized.

Methods: Exome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical testing for known disease genes.

Results: KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests.

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families).

Liver transplantation at KFSHRC: achievement and challenges.

The liver transplantation program at KFSHRC has been active since 2001. More than 450 liver transplants have been performed so far. The program evolved from adult cadaveric transplant to living donor and recently to pediatric and split techniques.

Progress and outcomes of the first high-volume pediatric liver transplantation program in Saudi Arabia.

In 2010, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, established a dedicated Organ Transplant Center to overcome the inadequacy in transplantation care in the region. Due to the high need for solid organ transplantation in children, this center focused on pediatric transplantation. Between 2011 and 2013, a total of 112 pediatric liver transplantations have been performed in our center, mostly from living donors (n=103, 92%).