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. The identified genetic variants associated with the observed kidney phenotypes were then confirmed and reported. End-stage kidney disease was reported in 51% of the cohort and a family history of kidney disease in 59%, while known consanguinity was reported in 54%. Pathogenic/likely pathogenic variants were identified in 43 patients with a diagnostic yield of 42%, and clinically associated variants of unknown significance (VUS) were identified in further 21 CKD patients (21%). A total of eight novel predicted pathogenic variants and eight VUS were detected. The clinical utility of ES within the nephrology clinic was demonstrated allowing patient management to be disease-specific. In this cohort, ES detected a diagnostic molecular abnormality in 42% of patients with CKD phenotypes. Positive family history and high rates of consanguinity likely contributed to this high diagnostic yield.

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

INTRODUCTION: Breaking bad ne ws to caregivers of children with (CKD) [I can't comment in the box] Title says to breaking bad news to children but in here, breaking bad news to caregivers. Please clarify and edit accordingly. 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. Our objective was to identify how much is the emotional and knowledge satisfaction of CKD caregivers and the relation of their socioeconomic and educational levels with their preferences in breaking bad news. METHODS: A questionnaire based study was conducted for caregivers of CKD children, in the outpatient clinics, and peritoneal dialysis and hemodialysis units at the King Faisal Specialist Hospital and Research Centre for three months. RESULTS: 83 questionnaires from caregivers of CKD patients age (1-14) years, mean age of 8.5 ± 3.9 years. (47.6%) were emotionally very satisfied, 29.5% were very satisfied about the knowledge they had. CONCLUSION: Caregivers of CKD patients are satisfied emotionally more than the satisfaction about the amount of information they got. Different demographic data might affect their preferences in the way of receiving the bad news. The dissatisfaction suggesting that physicians' communication skills needs improvement.

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. To make the documentation useful, it needs to be accurate, relevant, complete and confidential. OBJECTIVES: The aim of this paper is to demonstrate the effect of the collaborative work in the Department of Pediatrics on improving the quality of inpatient clinical documentation over 5 years. METHODS: Improving clinical documentations went through several collaborative approaches, these include: Departmental Administration involvement, establishment of quality management team, regular departmental collaborative meeting as a monitoring and motivating tool, establishment of the residents quality team, Integration of quality projects into the new residents annual orientation, considering it as a part of the trainee personal evaluation, sending reminders to the consultants and residents on the adherence for admission note initiating and 24 h's verification, utilization of standardized template of admission note and progress note and emphasizing on the adherence to the approved medical abbreviation list only for any abbreviation to be used. RESULTS: During the period between the first quarter of 2012 to the fourth quarter of 2017; a significant improvement was noticed in the overall in-patient clinical documentation compliance rate, as it was ranging from lower 50% in 2012 and 2013, and increased gradually to reach upper 80% in the last quarters of 2016 and 2017. These figures are based on an independent audit that being done by the hospital quality management department and received by the department in a quarterly basis. CONCLUSION: Despite multiple challenges for improving the compliance for clinical documentations, major improvement can be achieved when the collaboration and efforts among all stakeholders being shared and set as a common goal.

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. Results of this study showed that most of the patients received their discharge summaries within the time limit as recommended by the JCIA standard. OBJECTIVES: The aim of this paper is to present our department's experience in regard to the difficulties, challenges, and outcomes of the adopted work flow for discharge summaries over a period of five years. METHODS: The residents have been instructed to initiate the discharge summaries as soon as possible within the first five days of hospitalization for every patient admitted under the Department of Pediatrics regardless of the expected discharge date. Afterward, it will be the responsibility of the attending junior and senior residents to update the summaries on regular basis as long as the patient under their care. They should transfer the updated summary to the coming resident that will take over the medical care until the discharge day when the most recent update will be forwarded to the attending consultant for final review and signature. RESULTS: Between 2011 and 2016, a significant drop in the number of delinquent records was noted. From 1131 delinquent records at the end of the fourth quarter of 2011, the number has fallen to 15 in the fourth quarter of 2016. Furthermore, compliance to JCIA documentation standards showed sustained improvement since the initiation of the project. The department used to score around 50% in the discharge documentation compliance rate which has improved to be maintained around 80%s in average. CONCLUSIONS: Every new project concerning the quality of patient care provided in any institution is expected to face multiple challenges and difficulties. Proper identifications of the challenges, standardize approach for solutions, sustainability of quality monitoring for an improvement projects can maintain the success for any new project.

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. This approach focused on the Department of Pediatrics at King Faisal Specialist Hospital and Research Centre (KFSH&RC). We established specific educational and monitoring programs that were run over a two-month period, from June to July 2015. The educational program consisted of focused hands-on daily interactive training sessions presented to a small group of residents, i.e., 5-6 residents per session, for a period of one week. One resident was identified as a "Super-User" to provide ongoing support for the other residents involved in the process. A close monitoring process was also implemented, which included daily follow up and encouragement from three assigned consultants. In addition, periodic independent audit report results prepared by Healthcare Information Technology Affairs (HITA) were communicated to the Department of Pediatrics regarding physician compliance in the medication reconciliation process. RESULTS: Physician compliance for admission medication reconciliation documentation in ICIS ranged from (0-15%) between the first quarter of 2012 and the first quarter 2015, we designated the official hospital audit for the first quarter of 2015 as a baseline audit report. Between the first quarter of 2012 and 2015, the physician compliance for admission medication reconciliation was ranged between 0 to 15% according to the official hospital audit. We implemented our initiative during the months of June and July 2015. During that time, there was a gradual improvement in the number of admission medication reconciliations reported by the independent audits of our general Pediatrics Ward (B1), which represents the majority of pediatric admissions. The 57% of 26 patients had medication reconciliation completed by the first report dated 16 June 2015. This percentage improved to 92% out of a total of 13 patients at the last report on 12 July 2015. This consistent improvement also occurred in other areas where pediatric patients were admitted including the B3-1 (from 88% to 90%), the NICU 1 (from 83% to 100%) and the NICU 2 (from 90% to 100%). CONCLUSIONS: By structuring and implementing intensive educational and monitoring programs, a marked improvement in the compliance of medication reconciliation at the time of admission for the pediatric patient population was achieved. We believe that our department-based results would be generalizable if a similar hospital-wide programme was to be rigorously implemented.