Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

BACKGROUND: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles. OBJECTIVE: Determine the pattern of CFTR variants in the CF population of Saudi Arabia. DESIGN: A retrospective, descriptive. SETTING: Tertiary care center. PATIENTS AND METHODS: We examined the medical records of 396 confirmed CF patients of all age groups that were positive for a CFTR variant from the period of 1 January 1998 to 1 December 2017. MAIN OUTCOME MEASURES: Zygosity, morbidity and mortality patterns of different types of CFTR variants. SAMPLE SIZE: 312 families that included 396 patients. RESULTS: Of 48 variants identified, 6 were novel, having not been described in the medical literature. A homozygous state was found in 283 families (90.7%) and compound heterozygosity in 23 (7.4%). Six families were heterozygous (1.9%). Median age (interquartile range) was 10.2 months (4.4 months to 5.7 years) at diagnosis and 9.7 (5.4-16.5) years at follow up. Of 396 patients, 378 patients (95.5%) survived and 18 (4.5%) died. The ten most common variants identified in descending frequency were: p.Gly473GlufsX54 in 98 alleles (16%), p.Ile1234Val in 66 alleles (11%), F508del in 64 alleles (11%), 711+1G>T in 62 alleles (10%), 3120+1G>A in 62 alleles (11%), p.His139Leuin 38 alleles (6.4%), p.Gln637Hisfs in 30 alleles (5.2%), p.Ser549Arg in 27 alleles (4.5%), p.Asn1303Lys in 14 alleles (2.3%), delExon19-21in 10 alleles (1.6%). This analysis identified 79.2% of our CFTR variants. CONCLUSION: CFTR mutational patterns in our CF population are characterized by a high allelic heterogeneity. The high prevalence of homozygous variants reflects the high level of consanguinity between parents. LIMITATIONS: Our CFTR screening reflected only about 80% of CF patients in Saudi Arabia. CONFLICT OF INTEREST: None.

Outcome with topical sirolimus for port wine stain malformations after unsatisfactory results with pulse dye laser treatment alone.

We used a topical formulation of sirolimus for treating port wine stain (PWS). Although pulsed dye laser (PDL) is the current treatment of choice for PWS, fast neovascularization after treatment is a major drawback. With PDL therapy there has been insufficient improvement and frustrating side effects. The objective was to study the efficacy and safety of combining topical sirolimus with PDL as dual therapy in managing PWS. We report five PWS cases that were treated with PDL initially, followed by 0.5-1% topical sirolimus. With dual therapy there was significant improvement over a shorter duration. More published studies of topical sirolimus are needed to clarify the role of dual therapy in managing PWS associated with capillary malformations. We encourage further prospective and comparative studies with a larger sample size. SIMILAR CASES PUBLISHED: 1.

Elizabethkingia Meningoseptica in a Case of Biliary Tract Infection Following Liver Transplantation.

BACKGROUND Elizabethkingia meningoseptica (E. meningoseptica) is an aerobic Gram-negative bacillus known to thrive in moist environments, and is now recognized as a hospital-acquired infection, being found to contaminate hospital equipment, respiratory apparatus, hospital solutions, water, and drainage systems. Nosocomial infection with E. meningoseptica occurs in immunocompromised patients, requires specialized identification methods, and is resistant to conventional antibiotics. We report a case of E. meningoseptica infection arising from a percutaneous transhepatic biliary drainage (PTBD) tube. CASE REPORT A 55-year-old Saudi woman underwent liver transplantation. The post-operative period immediately following transplantation was complicated by anastomotic biliary stricture and bile leak, which was managed with percutaneous transhepatic cholangiography (PTC) with PTBD. She developed right upper quadrant abdominal pain, and her ultrasound (US) showed a subdiaphragmatic collection. Microbial culture from the PTBD tube was positive for E. meningoseptica, which was treated with intravenous ciprofloxacin and metronidazole. This case is the second identified infection with E. meningoseptica at our specialist center, fifteen years after isolating the first case in a hemodialysis patient. We believe that this is the first case of E. meningoseptica infection to be reported in a liver transplant patient. CONCLUSIONS The emerging nosocomial infectious organism, E. meningoseptica is being seen more often on hospital equipment and medical devices and in water. This case report highlights the need for awareness of this infection in hospitalized immunocompromised patients and the appropriate identification and management of infection with E. meningoseptica.