The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

Introduction: Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops symptoms of bowel obstruction, such as distention of the abdomen or vomiting. MI can lead to bowel perforation, a twisting of the bowel, or inflammation and infection of the abdominal cavity. Objectives: To find the incidence and prevalence of meconium ileus in cystic fibrosis patients and to report on the most common gene mutation of MI in CF patients. Methodology: Retrospective review of the medical documentations of all MI patients during the period of 1989-2018. Results: A total of 40 CF confirmed patients were presented with MI. Twenty-nine patients (71%) are alive and 11 patients (29%) died or lost to follow-up. The following CFTR mutations were found: Eight patients (20%) with c.2988+1G>A; Intron 18. Seven patients (17.5%) with c.1418delG; Exon 11. Five patients (12.5%) with c.579+1G>T; Intron 5. Four patients (10%) with c.1911delG; Exon 14. Four patients (10%) with c.1521_1523delCTT; Exon 11. Four patients (10%) with c.416A>T; Exon 13. Three patients (7.5%) with c.2421A>G; Exon 14. Two patients (5%) with c.3908A>C; Exon 21. One patient (2.5%) with c.3889dupT; Exon 24. One patient (2.5%) with c.1657C>T; Exon 12. One patient (2.5%) with c.2547C>A; Exon 14a. Eighteen patients (45%) were presented with vomiting, 38 patients (95%) had postnatal radiological findings, 7 patients (17.5%) had electrolytes imbalance. Five patients (12.5%) had cholestasis and 4 patients (10%) developed chronic liver disease. Thirty-five patients (79.5%) underwent surgical repair and 9 patients (20.5%) were treated medically. Mean age of operation was 2.25 (2) days. Of 9 patients, 6 (66.6%) were treated with gastrograffin enema, 2 patients (22.2%) with oral N-acetylcysteine and 1 patient (11.1%) with saline rectal wash. Thirteen patients (31.5%) required TPN. Five patients had recurrent operation. Conclusion: CF and meconium ileus are commonly present in CF patients in Saudi Arabia. Prognosis is similar to other CFs without MI, if treated early. Thirty percent of our CF/MI patients have intronic mutations.

Ursodeoxycholic Acid and SMOFlipid for Treating Parenteral Nutrition Associated Cholestasis in Infants.

BACKGROUND:  Parenteral nutrition-associated cholestasis (PNAC) is frequently seen in preterm infants receiving total parenteral nutrition (TPN) for a long duration. The pathogenesis of PNAC is believed to be multifactorial; however, phytosterols are hepatotoxic, resulting in cholestasis. A novel lipid emulsion consisting of a mixture of soybean oil, medium-chain triglycerides, olive oil, and fish oil (SMOFlipid) with a low level of phytosterols has been shown to improve cholestasis. Moreover, ursodeoxycholic acid (UDCA) has improved bile flow and normalized liver function tests. This study aimed to determine the effect of UDCA and SMOFlipid in preventing and treating PNAC in infants. METHODS:  We conducted a retrospective cohort study that included all infants who received TPN for at least five days between January 2010 and December 2018, who also received UDCA for the treatment of cholestasis, and infants who developed cholestasis but were not treated with UDCA. In addition, any infants who received SMOFlipid for parenteral nutrition during the same period were included. We recorded multiple variables, including neonatal demographic data, major medical diagnosis, liver function, medications, and maternal variables. RESULTS:  A total of 58 infants with cholestasis who received UDCA for treatment were identified. The infants were divided into two groups, Group 1 infants had gestational age (GA) of ≤32 weeks, and Group 2 had GA of >32 weeks. We found that combining SMOFlipid with UDCA resulted in a significant reduction in cholestasis duration in both groups. Infants in Group 1 who received SMOFlipid had cholestasis for a mean of 67 ± 57 days, and those who did not receive SMOFlipid had cholestasis for a mean of 145 ± 102 days (p=0.04). Infants in Group 2 who received SMOFlipid had cholestasis for a mean of 38.2 ± 28 days, and those who did not receive SMOFlipid had cholestasis for a mean of 117 ± 119 days (p=0.02). CONCLUSIONS:  According to our results, the use of UDCA and SMOFlipid reduced the duration of parenteral nutrition-associated with cholestasis in very low birth weight infants.

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.