Publications by authors named "Ali Asery"

14 Publications

  • Page 1 of 1

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

Front Genet 2020 31;11:580484. Epub 2020 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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. The identification of such variants in genes with only tentative associations to Mendelian diseases can add to the existing evidence when observed in the context of compatible phenotypes. In this study, we report 20 homozygous variants in 18 genes (, and ) that satisfy the ACMG classification for pathogenic/likely pathogenic if the involved genes had confirmed rather than tentative links to diseases. These variants were selected because they were truncating, founder with compelling segregation or supported by robust functional assays as with the variant that we present its validation using yeast model. Our findings support the previously reported disease associations for these genes and represent a step toward their confirmation.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2020.580484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806527PMC
December 2020

Deamidated Gliadin Antibodies: Do They Add to Tissue Transglutaminase-IgA Assay in Screening For Celiac Disease?

J Pediatr Gastroenterol Nutr 2020 Dec 16;Publish Ahead of Print. Epub 2020 Dec 16.

Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City Department of Pathology and Laboratory Medicine, King Saud Medical City, Riyadh, Kingdom of Saudi Arabia, Department of Medical Translational Sciences & European Laboratory for the Investigation of Food-Induced Diseases, University Federico II, Naples, Italy Department of Biostatistics, Research Services Administration, Research center at King Fahad Medical City The department of Pathology and Clinical Laboratory Medicine, Immunology, Serology & HLA Laboratory section, King Fahad Medical City College of Medicine, Alfaisal University Prince Abdullah bin Khalid Celiac Disease Research Chair, Department of Pediatrics, Faculty of Medicine, King Saud University.

Objectives: Use of deamidated gliadin peptide (DGP) test kits as adjunctive to Tissue-transglutaminase IgA (TTG-IgA) for the diagnosis of celiac disease (CD) has been a controversial issue. The objectives of our study were to evaluate the diagnostic performance of DGP antibodies compared to TTG-IgA and to evaluate the correlation between DGP-antibodies titers and degree of enteropathy.

Methods: We included children who underwent endoscopy and biopsies because of positivity of any of the serology tests in the "celiac profile" (TTG-IgA, DGP-IgA, and DGP-IgG), from 2012 to 2019. We divided children into clinically suspected cases of CD (Group 1) and asymptomatic cases screened because they were from a high risk-group (Group 2).

Results: Group 1 constituted 52 children and group 2 included 81 children [76 type1-diabetes (T1D)]. The sensitivity and positive predictive value (PPV) of DGP-IgG in group 1 (90%, 98%) and group 2 (91%, 85.5%) were comparable to TTG-IgA (98%, 92% in group 1; 100%, 80% in group 2). By adding DGP-IgG to TTG-IgA, the performance of TTG-IgA has improved marginally in group 1 (sensitivity 100%, PPV 92.3%). All cases with DGP-IgG titer 2 times ULN in group 1, and > 4 times ULN in group 2 had villous atrophy. All T1D patients with TTG IgA > 10 times ULN had villous atrophy.

Conclusion: DGP-IgG assay did not add to the performance of TTG-IgA. DGP-IgG titer correlated with enteropathy. The diagnosis of CD can be made in asymptomatic T1D child with TTG-IgA titer > 10 times ULN and positive endomyseal antibodies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000003022DOI Listing
December 2020

Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.

J Pediatr Gastroenterol Nutr 2020 02;70(2):e26-e32

Division of Pediatric Gastroenterology, Children's Specialized Hospital.

Objectives: The published data on early infantile liver failure (EILF) are scarce and limited to Caucasians. We conducted this study to describe the etiology and outcome of EILF among Arabs and identify prognostic factors.

Methods: We retrospectively reviewed our database of 524 infants presenting with liver impairment from 2008 to 2018, and identified cases of EILF defined as presence of biochemical pattern of liver disease and INR ≥2 (unresponsive to vitamin K) with onset before 3 months of life. Primary outcomes included death or liver transplantation (LT) (poor outcome group) and survival with native liver (good outcome group).

Results: Forty-two cases of EILF (22 girls) were identified (8%). The etiology was indeterminate in 14 (33.3%) and established in 27 (64.3%): galactosemia (7 cases, 16.6%), tyrosinemia (5, 12%), neonatal hemochromatosis (NH), and hemophagocytic lymphohistiocytosis (HLH) (4 each, 9.5%]) mitochondrial hepatopathy (3, 7%), and miscellaneous (5, 12%). LF resolved in 15 cases (35.7%), either spontaneously or in response to specific therapy, 23 (54.7%) died, and 4 underwent LT (9.5%). ROC analysis for the best cut-off value of serum total bilirubin for prediction of study outcomes was 120 μmol/L (sensitivity 81.5%, specificity 80%). Among the diagnostic groups, galactosemia and tyrosinemia predicted good outcome, whereas the idiopathic diagnosis predicted poor outcome (OR = 13).

Conclusions: Similar to Western countries, galactosemia, tyrosinemia, NH, HLH, and mitochondrial hepatopathy are the main players in EILF in Saudi Arabia. Galactosemia and tyrosinemia predict good prognosis and idiopathic diagnosis predicts poor prognosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000002554DOI Listing
February 2020

What Do Saudi Children Ingest?: A 10-Year Retrospective Analysis of Ingested Foreign Bodies From a Tertiary Care Center.

Pediatr Emerg Care 2019 Jul 24. Epub 2019 Jul 24.

Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City.

Objectives: Few studies investigated the correlation between foreign body (FB) ingestion and occurrence of complications. The local literature is limited to case reports and small case series on esophageal FBs. We conducted this study to identify the high-risk factors predisposing to complications among Saudi children ingesting FBs.

Methods: The medical records of 436 children (boys, 59.6%; mean age, 4.4 ± 2.7 years) presenting to the emergency department (ED) between 2007 and 2016 were retrospectively reviewed. Relative risk analysis of clinical variables was performed between 2 groups: The first group constituted children without FB-related complications (n = 389), and the second group included those with major complications (n = 14). Major complication was defined as any event associated with significant morbidity such as esophageal stricture, esophageal perforation, esophageal fistula, and intestinal perforation or fistula formation.

Results: Most of the 436 cases presented between ages 2 and 4 years (35.1%). Coin was the most commonly ingested FB (22.9%) followed by button battery (19.5%). Most of the ingested FBs passed spontaneously without intervention (69%). Upper endoscopy was performed in 121 cases (27.7%). By multivariate analysis, the variables that were significantly associated with major complications included the following: very young age group (0-2 years; odds ratio [OR], 11.5), button battery (OR, 4), FB impacted at upper esophagus (OR, 8.7), and longer time duration to visit the ED (OR, 14.7).

Conclusion: Button battery impaction at upper esophagus in very young children and delayed presentation to the ED were the most significant risk factors of FB-related complications.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/PEC.0000000000001894DOI Listing
July 2019

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Genome Med 2019 06 17;11(1):38. Epub 2019 Jun 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.

Methods: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors.

Results: For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%).

Conclusion: Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13073-019-0649-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572765PMC
June 2019

Organizational Culture at a Tertiary Care Center in Saudi Arabia: A Mixed Approach Study.

Cureus 2018 Dec 15;10(12):e3736. Epub 2018 Dec 15.

Obstetrics and Gynecology, King Fahad Medical City, Riyadh, SAU.

Objective To explore the prevailing culture among leaders at the King Fahad Medical City (KFMC) in Riyadh, Saudi Arabia, as well as to evaluate the impact of organizational culture from the perspective of employees. Subjects and methods Utilizing a convenient sampling method, data were collected at the KFMC, Saudi Arabia, using two research approaches (focus group and cross-sectional). A total of 446 employees participated in this questionnaire-based study, and all questionnaires were analyzed to obtain the final data. Results About 51% of the participants were males and 49% were non-Saudi nationals. On a scale of 5 points, the overall score of the KFMC culture assessment was 3.6 (72%). The strongest recognized factor was the enjoyment (3.9/5; 78%). On the other hand, the factor with the lowest score was innovation (3.3/5; 66%). Conclusion The culture within an organization is very important. Communicating organizational strategic plans of change to employees and assuring their acknowledgment of the vision can inspire the behavior and attitude of employees at the workplace. This study strikes a note of challenge in some dimensions and items. Top management leaders are recommended to adjust their leadership behavior to focus on these challenges.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.3736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384045PMC
December 2018

Outcome of biliary atresia among Saudi children: A tertiary care center experience.

Saudi J Gastroenterol 2019 May-Jun;25(3):176-180

Division of Pediatric Gastroenterology, Department of Pediatric Sub-Specialities, The Children's Specialized Hospital, King Fahad Medical City; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.

Background/aims: Data from Western countries indicate that biliary atresia (BA) is the leading cause of end-stage liver disease in children and the most common indication for liver transplantation (LT) in the pediatric population. There is no data on the epidemiology and outcome of BA in Saudi Arabia. The main objective of our study was to understand the clinical and epidemiological characteristics and outcome of BA in the Saudi population.

Patients And Methods: We retrospectively reviewed the database of infantile cholestasis cases that presented to our center from 2008 to 2015 and identified BA cases. Data on clinical, biochemical, imaging, and histopathological characteristics were collected by chart review. The two primary study outcomes were (1) successful Kasai portoenterostomy (KPE) defined as resolution of jaundice (total serum bilirubin <20 μmol/L) and (2) survival with native liver.

Results: Over the study period, we evaluated 450 cases of infantile cholestasis. In all, 21 cases (11 males) were diagnosed with BA (4.7%). BA cases were first seen by pediatric gastroenterologists at a median age of 65 days. KPE was performed in 12 cases at a median age of 73 days. Successful KPE was achieved in four cases (33%). Five of the remaining eight cases had LT and three died before LT. Nine of the 21 BA cases were denied KPE and had primary LT at median 8 months of age. The native liver 4-year survival rate was 14.3% and the overall survival rate was 81%.

Conclusion: BA is an uncommon cause of infantile cholestasis in Saudi Arabia. Our study provides a snapshot of the epidemiology of BA in Saudi Arabia that is characterized by late referral to pediatric gastroenterologists and poor outcome without LT.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4103/sjg.SJG_306_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6526739PMC
April 2020

Incidence of pediatric inflammatory bowel disease in Saudi Arabia: a multicenter national study.

Inflamm Bowel Dis 2014 Jun;20(6):1085-90

1Department of Pediatrics, Division of Gastroenterology, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia; 2Department of Pediatrics, Division of Gastroenterology, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia; 3Department of Pediatrics, Division of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; 4Department of Pediatrics, Division of Gastroenterology, Dhahran Health Center, Saudi Aramco Medical Services Organization, Dhahran, Saudi Arabia; 5Department of Pediatrics, Division of Gastroenterology, King Abdulaziz Medical City, National Guard Health Affairs, Jeddah, Saudi Arabia; 6Department of Pediatrics, Division of Gastroenterology, King Fahad Specialist Hospital, Dammam, Saudi Arabia; 7Department of Pediatrics, Division of Gastroenterology, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia; 8Department of Gastroenterology, Al-Mofarreh Polyclinic, Riyadh, Saudi Arabia; 9Division of Gastroenterology, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia; 10Department of Medicine, Division of Gastroenterology, King Fahd Hospital of the University, University of Dammam, Al Khobar, Saudi Arabia; 11Department of Pediatrics, Division of Gastroenterology, Al-Noor Specialist Hospital, Makkah, Saudi Arabia; 12Division of Gastroenterology, Maternity and Children's Hospital, Madinah, Saudi Arabia; 13Department of Pediatrics, Division of Gastroenterology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; 14Division of Gastroenterology, Maternity and Children's Hospital, Dammam, Saudi Arabia; 15Division of Gastroenterology, Makkah Maternity and Children's Hospital, Makkah, Saudi Arabia; and 16Department of Pediatrics, Division of Gastroenterology, Prince Sultan Military Medical City. Riyadh, Saudi Arabia.

Background: Pediatric inflammatory bowel disease (IBD) is increasingly recognized in developing countries; however, the incidence and trend over time have not been reported.

Methods: This retrospective study included children diagnosed with IBD in gastroenterology centers in the Kingdom of Saudi Arabia between 2003 and 2012. The date of birth, date and age at diagnosis, gender, and final diagnosis were collected on special forms. Clinical, laboratory, imaging, endoscopy, and histopathology results were reviewed to confirm the final diagnosis. Descriptive statistics were used to compare ulcerative colitis and Crohn's disease in different age groups, and significance was assessed by the chi-square test. Incidence rates and trend over time were analyzed with the assumption of Poisson distribution. The incidence rate over time was compared in 2 periods (2003-2007 and 2008-2012). A P value of <0.05 and 95% confidence intervals were used to assess the significance and precision of the estimates.

Results: A total of 340 Saudi Arabian children aged 0 to 14 years were diagnosed. The mean incidence rate per 100,000 individuals was 0.2, 0.27, and 0.47 for ulcerative colitis, Crohn's disease, and IBD, respectively. Except for the 0- to 4-year age group, there was a significant increase in incidence over time.

Conclusions: Although the incidence of pediatric IBD in Saudi Arabian children is lower than suggested in the Western literature, there is a significantly increasing trend over time. However, decreased trend in the younger age group over time is identified. Prospective studies will be important to identify the risk factors for IBD in different age groups.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/MIB.0000000000000048DOI Listing
June 2014

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

J Pediatr 2014 Mar 8;164(3):553-9.e1-2. Epub 2013 Dec 8.

Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.

Objective: To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosine kinase (DGUOK) and MPV17 gene mutations.

Study Design: We studied 20 infants with suspected hepatocerebral MDS referred to our tertiary care center between 2007 and 2013. Genomic DNA was isolated from blood leukocytes, liver, and/or skeletal muscle samples by standard methods. Mitochondrial DNA copy number relative to nuclear DNA levels was determined in muscle and/or liver DNA using real-time quantitative polymerase chain reaction and compared with age-matched controls. Nuclear candidate genes, including polymerase γ, MPV17, and DGUOK were sequenced using standard analyses.

Results: We identified pathogenic MPV17 and DGUOK mutations in 11 infants (6 females) representing 2.5% of the 450 cases of infantile cholestasis and 22% of the 50 cases of infantile liver failure referred to our center during the study period. All of the 11 patients manifested cholestasis that was followed by a rapidly progressive liver failure and death before 2 years of life. Mitochondrial DNA depletion was demonstrated in liver or muscle for 8 out of the 11 cases where tissue was available. Seven patients had mutations in the MPV17 gene (3 novel mutations), 4 patients had DGUOK mutations (of which 2 were novel mutations).

Conclusion: Mutations in the MPV17 and DGUOK genes are present in a significant percentage of infants with liver failure and are associated with poor prognosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2013.10.082DOI Listing
March 2014

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Eur J Hum Genet 2014 Feb 29;22(2):184-91. Epub 2013 May 29.

Nuffield Department of Obstetrics and Gynaecology, University of Oxford The Women's Centre, Oxford, UK.

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK and MPV17 genes, the latter encoding a mitochondrial inner membrane protein of unknown function. The aims of this study were to clarify further the clinical, biochemical, cellular and molecular genetic features associated with MDS due to MPV17 gene mutations. We identified 12 pathogenic mutations in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. All patients manifested liver disease. Poor feeding, hypoglycaemia, raised serum lactate, hypotonia and faltering growth were common presenting features. mtDNA depletion in liver was demonstrated in all seven cases where liver tissue was available. Mosaic mtDNA depletion was found in primary fibroblasts by PicoGreen staining. These results confirm that MPV17 mutations are an important cause of hepatocerebral mtDNA depletion syndrome, and provide the first demonstration of mosaic mtDNA depletion in human MPV17 mutant fibroblast cultures. We found that a severe clinical phenotype was associated with profound tissue-specific mtDNA depletion in liver, and, in some cases, mosaic mtDNA depletion in fibroblasts.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895632PMC
February 2014

Isolated cortisol deficiency: a rare cause of neonatal cholestasis.

Saudi J Gastroenterol 2012 Sep-Oct;18(5):339-41

Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.

For decades, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the identity of the hormone whose deficiency causes such derangement of the liver is not clear. Here, we report four cases of isolated severe cortisol deficiency presenting with neonatal cholestasis and hypoglycemia, of whom two had familial primary glucocorticoid deficiency and the other two had isolated adrenocorticotropin deficiency. The resolution of cholestasis by hydrocortisone replacement therapy suggests a causal relationship between cortisol deficiency and the development of neonatal cholestasis. In conclusion, the presentation of a young infant with cholestasis and hypoglycemia should alert pediatricians to the possibility of cortisol deficiency and prompt investigation of adrenal function should be undertaken.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4103/1319-3767.101137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500024PMC
March 2013

Knowledge, attitude and practice of tobacco smoking by medical students in Riyadh, Saudi Arabia.

Ann Thorac Med 2010 Jul;5(3):145-8

Family and Community Medicine, King Saud Bin Abdul Aziz University for Health Sciences, Riyadh, Saudi Arabia. haqwia/at/ksau-hs.edu.sa

Background: Tobacco consumption is associated with considerable negative impact on health. Health professionals, including future doctors, should have a leading role in combating smoking in the community.

Objectives: The aims of the study were to assess the prevalence of smoking among medical students of newly established medical colleges in Riyadh city, the capital of Saudi Arabia, as well as to assess students' attitude, practice and their knowledge on the risk factors of tobacco consumption.

Methods: A cross-sectional, questionnaire-based study of students from two medical colleges in Riyadh, Saudi Arabia was carried out. The questionnaire used was anonymous, self-administered and developed mainly from Global Adult Tobacco Survey (GATS).

Results: A total of 215 students participated in this study. Forty students (19%) indicated that they smoke tobacco at the time of the study. All of them were males, which raise the prevalence among male students to 24%. Tobacco smoking was practiced by males more than females (P value <0.0001) and by senior more than junior students (<0.0001). About 94% of the study sample indicated that smoking could cause serious illnesses. About 90% of the students indicated that they would advice their patients to quit smoking in the future and 88% thought that smoking should be banned in public areas. Forty-four students (20%) thought that smoking has some beneficial effects, mainly as a coping strategy for stress alleviation.

Conclusion: Despite good knowledge about the hazards of tobacco consumption, about 25% of the medical students in this study continue to smoke. The main reported reasons should be addressed urgently by policy-makers. Special efforts should be taken to educate medical students on the effective strategies in managing stress during their study as they thought that tobacco smoking could be used as a coping strategy to face such a stress.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4103/1817-1737.65044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930652PMC
July 2010

An oesophageal foreign body.

J Paediatr Child Health 2009 Jul-Aug;45(7-8):473

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1754.2009.01540.xDOI Listing
December 2009

Outbreak of Burkholderia cepacia bacteremia in immunocompetent children caused by contaminated nebulized sulbutamol in Saudi Arabia.

Am J Infect Control 2006 Aug;34(6):394-8

Department of Infection Control and Environmental Health Administration, King Fahad Medical City, Riyadh, Saudi Arabia.

Background: An outbreak of 5 inpatient and otherwise healthy children admitted for respiratory problems developed dry fever and cough after a few days of hospitalization. Burkhuldaria cepacia was isolated from their blood culture. The Infection Control Department (ICD) in the King Fahad Medical City (KFMC) detected and investigated the outbreak to identify the source of the organism and mode of transmission.

Methods: After the initial review of all the existing records in the KFMC, log book of the laboratory, and direct questioning of all physicians and revising the method of B cepacia identification in our laboratory, an observational study to identify any violation of infection control policy and a case-control study were designed to identify possible risk factors associated with the occurrence and transmission of the disease.

Results: A total of 7 healthy patients were reported to have B cepacia-positive blood culture, with 5 patients infected in the KFMC and 2 patients in their referring hospitals. We could isolate the same organism from sulbutamol solution 0.5% manufactured locally (Vintec). Among the risk factors studied, concomitant use of nebulized budesonide with sulbutamol (OR, 26; 95% CI: 1.31-1,187) was found to be 26 times more likely to be associated with infection and to be statistically significant; concomitant use of systemic hydrocortisone increased the risk of infection 4 times but, statistically, was not significant. No significant association was found with concomitant syncitial respiratory virus (RSV) infections or having chronic diseases. None of the affected patients were found to be immunocompromised.

Conclusion: B cepacia can affect healthy children. Contaminated nebulized sulbutamol with B cepacia was the source of infection, and inhalation was the mode of transmission. Concomitant use of nebulized budesonide solution is a significant risk factor. The KFMC was the first health institution to diagnose this national outbreak.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajic.2006.03.003DOI Listing
August 2006