Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.

The use of genetic testing within nephrology is increasing and its diagnostic yield depends on the methods utilized, patient selection criteria, and population characteristics. We performed exome sequencing (ES) analysis on 102 chronic kidney disease (CKD) patients with likely genetic kidney disease. Patients had diverse CKD subtypes with/without consanguinity, positive family history, and possible hereditary renal syndrome with extra-renal abnormalities or progressive kidney disease of unknown etiology.

Breaking bad news to children with chronic kidney disease: A questionnaire-based study and literature review.

Introduction: [I can't comment in the box] is an important role of nephrologists. In our practice there has been a thought about parental dissatisfaction from breaking bad news to CKD patients. Caregiver's preferences on how to be told the bad news in CKD children has not been studied adequately.

Clinical significance of IgM deposition in pediatric minimal change disease.

Background: Idiopathic nephrotic syndrome (INS) is a common pediatric disease. Minimal change disease (MCD) is the most common histopathological subtype and usually has good prognosis. However, in less common presentations, INS may have an unusual course that makes renal biopsy a necessity to identify its etiology.

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2,200 previously unpublished Saudi families as a first-tier test.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.

Departmental collaborative approach for improving in-patient clinical documentation (five years experience).

Introduction: Health care institutes are cooperative areas where multiple health care services come together and work closely; physician, nurses and paramedics etc,. These multidisciplinary teams usually communicate with each other by documentation. Therefore, accurate documentation in health care organization is considered one of the vital processes.

Challenges of implementing a standardized process for discharge summaries (5 years experience).

Introduction: Discharge summaries are essential documents to provide a long-lasting record of a patient's visit to a hospital. It provides an effective method of communication between various hospital services and primary care providers.We conducted a study recently in KFSH&RC recommending that every admitted patient to the Pediatric Department must have a discharge summary initiated as soon as possible within the first five days of hospitalization and to be updated periodically until its completion on the patient's discharge day.

Improving Medication Reconciliation compliance at admission: A single department's experience.

Background And Objectives: The objective of this research is to improve compliance of the medication reconciliation process at the time of patient admission in the Department of Pediatrics at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia using an innovative evidence-based approach.

Materials And Methods: Most of the recent efforts at our institution to revamp the medication reconciliation process have failed. Thus, we implemented an innovative evidence-based approach to improve the compliance of the reconciliation process at admission.