Publications by authors named "Fahad Alsohaibani"

27 Publications

  • Page 1 of 1

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.

iScience 2021 Mar 25;24(3):102214. Epub 2021 Feb 25.

Adult hematology/BMT, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Autosomal recessive mutations in cause isolated and syndromic congenital neutropenia which includes congenital heart disease and atypical inflammatory bowel disease (IBD). In a highly consanguineous pedigree with novel mutations in and , we performed comprehensive multi-omics analyses. Structural analysis of variant G6PC3 and MPL proteins suggests a damaging effect. A distinct molecular cytokine profile (cytokinome) in the affected proband with IBD was detected. Liquid chromatography-mass spectrometry-based proteomics analysis of the G6PC3-deficient plasma samples identified 460 distinct proteins including 75 upregulated and 73 downregulated proteins. Specifically, the transcription factor GATA4 and LST1 were downregulated while platelet factor 4 (PF4) was upregulated. GATA4 and PF4 have been linked to congenital heart disease and IBD respectively, while LST1 may have perturbed a variety of essential cell functions as it is required for normal cell-cell communication. Together, these studies provide potentially novel insights into the pathogenesis of syndromic congenital G6PC3 deficiency.
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http://dx.doi.org/10.1016/j.isci.2021.102214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960940PMC
March 2021

Epidemiology of Pancreatic Cancer in Saudi Arabia: A Retrospective Analysis of Pancreatic Cancer Diagnosed in Saudi Arabia Between 2004 and 2015.

Clin Exp Gastroenterol 2021 10;14:45-57. Epub 2021 Feb 10.

Biostatistics, Epidemiology, and Scientific Computing Department, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

Purpose: Over the last decades, the incidence of pancreatic cancer has increased, particularly in countries with a higher socioeconomic status. The present work aimed to provide detailed epidemiological data on the incidence of pancreatic cancer in Saudi Arabia.

Patients And Methods: In this retrospective descriptive study, the epidemiological data on pancreatic cancer cases diagnosed in 13 administrative regions of Saudi Arabia between January 2004 and December 2015 were extracted from the Saudi Cancer Registry. The frequency, the crude incidence rate (CIR), and the age-standardized incidence rate (ASIR), stratified by geographical region, gender, and the year of diagnosis, were analyzed.

Results: From January 2004 to December 2015, a total of 2338 cases of pancreatic cancer were registered, including 1443 males and 895 females. The overall CIR was 1.28/100,000 among males and 0.80/100,000 in females, with an overall ASIR of 2.26 and 1.41/100,000 for males and females, respectively. Higher ASIR and CIR were observed among males than females (ratio 1.6). In both genders, the ASIR of pancreatic cancer increased with increasing age, with the highest incidence in patients aged 70 years or more. The ASIR in the Eastern Region (3.2/100,000) and the regions of Riyadh (3.0/100,000) and Tabuk (2.6/100,000) proved to be significantly higher than in the other regions of the country. Among women, the ASIR was significantly higher in Riyadh (2.3/100,000), the northern region (2.2/100,000), and Tabuk (2.0/100,000).

Conclusion: This study revealed a slight increase of the CIR and ASIR of pancreatic cancer among males and females of the Saudi population. Eastern region, Riyadh, and Tabuk had the highest overall ASIRs of pancreatic cancer among males, Riyadh, Northern region, and Tabuk among Saudi females. The area least affected by pancreatic cancer was observed in Jazan among male and female Saudis. The rates of pancreatic cancer in Saudi Arabia were significantly higher among males compared with female Saudis. Further analytical studies are needed to identify the potential risk factors for pancreatic cancer among the Saudi population.
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http://dx.doi.org/10.2147/CEG.S289269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882803PMC
February 2021

Large lipoma of the ascending colon: a case report and review of literature.

J Surg Case Rep 2020 Sep 17;2020(9):rjaa354. Epub 2020 Sep 17.

Department of Medicine, King Faisal Specialist Hospital & Research Center, Riyadh 11211, Saudi Arabia.

Gastrointestinal lipomas are a rare benign non-epithelial neoplasms derived from mature adipocytes. The colon is the commonest organ involved in the entire digestive tract and has an incidence rate ~4.4% in autopsy series. Most of the colonic lipomas are asymptomatic and incidentally detected. Lipomas need to be distinguished from true neoplasia, because in most cases they do not need to be resected unless when they cause a clear symptom or they are large in size. Surgical rather than endoscopic resection is preferred for lipomas > 2 cm to avoid complications such as bleeding and perforation. We report a case of a 56-year-old female, a known case of locally advanced breast cancer and positive adenomatous polyposis coli mutation, who was found to have 4 cm ascending colon lipoma by imaging and confirmed by colonoscopy and histopathology.
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http://dx.doi.org/10.1093/jscr/rjaa354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497062PMC
September 2020

Brunner's glands hamartoma with pylorus obstruction: a case report and review of literature.

J Surg Case Rep 2020 Aug 26;2020(8):rjaa191. Epub 2020 Aug 26.

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Proliferative lesions of the Brunner's glands are uncommonly encountered lesions of the small intestine, originating from the deeply seated mucosal and submucosal Brunner's glands, mainly in the duodenum. The vast majorities of these lesions are benign and include Brunner's glands hyperplasia (adenomas/nodules) and hamartomas. The etiology and pathogenesis of these lesions are not fully understood, and the diagnosis can sometimes be challenging. We report a case of Brunner's gland hamartoma in a 57-year-old man who presented with chronic dyspepsia, hematemesis and weight loss. Endoscopic and radiological investigations show a submucosal polypoid lesion at the first part of the duodenum. Routine endoscopic biopsies demonstrated normal duodenal mucosa. The lesion considered endoscopically unresectable and was surgically resected. Frozen section examination and intraoperative consultation showed unremarkable duodenal mucosa and histologically bland Brunner's glands.
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http://dx.doi.org/10.1093/jscr/rjaa191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449553PMC
August 2020

Development and validation of metric-based-training to proficiency simulation curriculum for upper gastrointestinal endoscopy using a novel assessment checklist.

Saudi J Gastroenterol 2020 Jul 21. Epub 2020 Jul 21.

Department of Surgery, University of Washington Medical Center, Seattle, Washington, United States of America.

Background/aims: : This study aimed to design a structured simulation training curriculum for upper endoscopy and validate a new assessment checklist.

Materials And Methods: A proficiency-based progression stepwise curriculum was developed consisting of didactic, technical and non-technical components using a virtual reality simulator (VRS). It focused on: scope navigation, anatomical landmarks identification, mucosal inspection, retro-flexion, pathology identification, and targeting biopsy. A total of 5 experienced and 10 novice endoscopists were recruited. All participants performed each of the selected modules twice, and mean and median performance were compared between the two groups. Novices pre-set level of proficiency was set as 2 standard deviations below the mean of experts. Performance was assessed using multiple-choice questions for knowledge, while validated simulator parameters incorporated into a novel checklist; Simulation Endoscopic Skill Assessment Score (SESAS) were used for technical skills.

Results: : The following VRS outcome measures have shown expert vs novice baseline discriminative ability: total procedure time, number of attempts for esophageal intubation and time in red-out. All novice trainees achieved the preset level of proficiency by the end of training. There were no statistically significant differences between experts' and trainees' rate of complications, landmarks identification and patient discomfort. SESAS checklist showed high degree of agreement with the VRS metrices (kappa = 0.83) and the previously validated direct observation of procedural skills tool (kappa = 0.90).

Conclusion: : The Fundamentals of Gastrointestinal Endoscopy simulation training curriculum and its SESAS global assessment tool have been primarily validated and can serve as a valuable addition to the gastroenterology fellowship programs. Follow up study of trainee performance in workplaces is recommended for consequences validation.
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http://dx.doi.org/10.4103/sjg.SJG_113_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580730PMC
July 2020

The Value of Screening for Celiac Disease in Systemic Lupus Erythematosus: A Single Experience of a Tertiary Medical Center.

Rheumatol Ther 2020 Sep 23;7(3):649-656. Epub 2020 Jul 23.

Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Introduction: Systemic lupus erythematosus (SLE) is a multi-organ inflammatory disease associated with autoimmune diseases. The aim of the study is to assessed the frequency of celiac disease (CD) in adults and children with SLE (aSLE and cSLE, respectively) and compare them with rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) patients; the study also explored the clinical impact of CD serologic markers on SLE disease activity and severity.

Methods: This was a cross-sectional study. Patients with SLE who had regular follow-up in rheumatology clinics were evaluated for laboratory and clinical variables using serology and the SLE Disease Activity Index (SLEDAI). To assess the occurrence of CD serology in cSLE and aSLE and the clinical impact of CD serologic markers on SLE, patients were tested for antigliadin (AGA), anti-endomysium (EmA) and anti-tissue transglutaminase (tTG) antibodies. RA and JIA patients were included for comparison. Duodenal biopsy was conducted in patients who exhibited CD markers.

Results: The CD marker was found in 29 (11.6%) of the 250 patients. AGA was present in seven aSLE patients and tTG in two (11.1%). Among cSLE patients, the autoantibody was present in 17.6% (AGA in four, tTG in two, and EmA in three). For RA patients, five had AGA and tTG and one had EmA, with an overall positivity of 9.7%. Five JIA patients had AGA (four with EmA and five with tTG) with overall positivity of 10.9%; the serum IgA level was normal in all patients except one. Duodenal endoscopic biopsy was performed in patients with positive CD markers (two declined). Histologic confirmation of CD was reported in one RA and one JIA patient but in none of the SLE patients. There was no correlation between the presence of CD markers and autoantibodies in SLE.

Conclusion: CD antibodies did not influence SLE activity. Thus, SLE patients may not need to be screened for CD antibodies.
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http://dx.doi.org/10.1007/s40744-020-00223-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410907PMC
September 2020

COVID-19 and endoscopy services in intermediately affected countries: a position statement from the saudi gastroenterology association.

Saudi J Gastroenterol 2020 Sep-Oct;26(5):240-248

King Saud Bin Abdul-Aziz University of Health Sciences, King Abdul-Aziz Medical City, Jeddah, Saudi Arabia.

With the global pandemic due to coronavirus disease 2019 (COVID-19), there has been a significant strain on healthcare facilities. The infectivity rate, as well as the rate of healthcare workers who have fallen ill to the disease, has raised concerns globally on the proper management of patients as well as the role of safe healthcare provision utilizing personal protective equipment (PPE). Furthermore, the limited supply of PPEs has mandated rationing their use to achieve maximum utility and preservation. Multiple gastroenterology associations have issued guidance and statements that would help healthcare providers in navigating these unprecedented and difficult times, and the Saudi Gastroenterology Association has provided this statement in an effort to bring the most up to date information for the management of endoscopy units in terms of resources, manpower planning, scheduling, as well as infection control policies and leadership.
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http://dx.doi.org/10.4103/sjg.SJG_161_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7739996PMC
October 2020

Efficacy of a bismuth-based quadruple therapy regimen for eradication in Saudi Arabia.

Saudi J Gastroenterol 2020 Mar-Apr;26(2):84-88

Department of Medicine, Division of Gastroenterology, King Saud University Medical City, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Background/aim: The treatment efficacy of Helicobacter pylori (H. pylori) has been decreasing over time due to resistance to multiple antimicrobial therapies. The most effective treatment regimen for Saudi Arabian patients infected with H. pylori is still unknown. We aimed to study the eradication rate of 10 days of quadruple therapy; bismuth subcitrate potassium 140 mg, metronidazole 125 mg, and tetracycline 125 mg for H. pylori infection in a Saudi population.

Patients And Methods: This was a prospective, open-label, non-randomized controlled trial. Patients with H. pylori infection were diagnosed by upper gastrointestinal (GI) endoscopy and rapid urease test (RUT) or histology. Patients who tested positive were recruited. Eligible patients were prescribed a 10-day course of quadruple therapy and received three capsules 4 times daily for 10 days along with omeprazole 20 mg twice daily. H. pylori was considered eradicated if the urea breath test (UBT) was negative after 6 weeks of completing the treatment.

Results: Ninety-two patients with H. pylori infection were recruited. Three patients withdrew from the trial and another seven patients lost follow-up. We analyzed 82 patient's data as per-protocol analysis, of whom 66 (80%) were naive to H. pylori treatment. Four patients had failed previous treatment with the sequential regimen and 12 patients had treatment with clarithromycin-based triple therapy. The post-treatment UBT for H. pylori infection was negative by per-protocol analysis in 72/82 patients (87.8%), and 72/92 (78.3%) by intention-to-treat analysis. There was no correlation between previous treatment failure and treatment response to the bismuth-based quadruple therapy (P value = 0.28).

Conclusions: Treatment with a bismuth-based quadruple therapy was effective in eradicating H. pylori infection in 78.3% of Saudi patients with an ITT analysis and in 87.8% as per-protocol analysis.
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http://dx.doi.org/10.4103/sjg.SJG_626_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279072PMC
February 2021

Bone mineral density loss in cirrhotics: Impact of country specific data.

Saudi J Gastroenterol 2019 Jul-Aug;25(4):268

Department of Medicine, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.4103/sjg.SJG_182_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714472PMC
November 2019

Reporting Adverse Medical Device Events Is an Obligation and Not a "Fashion".

Obes Surg 2019 09;29(9):2974-2975

Department of Medicine, Section of Gastroenterology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s11695-019-03974-6DOI Listing
September 2019

Acute Pancreatitis as a Complication of Intragastric Balloons: a Case Series.

Obes Surg 2019 05;29(5):1694-1696

Department of Medicine, Division of Gastroenterology, King Khalid University Hospital, King Saud University, P.O. Box 2925(59), Riyadh, 11461, Saudi Arabia.

Intragastric balloon (IGB) placement for the treatment of obesity has been in use for more than three decades. The major advantage of IGBs is that they preserve the anatomy of the stomach and are generally considered safe; the most common complications are nausea/vomiting and abdominal pain, and very rarely are IGBs associated with mortality (0.05%). A total of 14 cases of pancreatitis complicating IGBs have been reported in the literature. In this series, we reported 10 patients who developed acute pancreatitis in association with IGBs of which half were treated conservatively without the removal of the IGBs.
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http://dx.doi.org/10.1007/s11695-019-03796-6DOI Listing
May 2019

Bone mineral density loss in patients with cirrhosis.

Saudi J Gastroenterol 2018 Nov-Dec;24(6):342-347

Department of Medicine, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Background/aims: Evidence of increased risk of osteoporosis and osteopenia in chronic liver disease and cirrhosis is inconsistent. This study aims to investigate this relationship and to identify the predictors of increased loss of bone mineral density in Saudi patients.

Patients And Methods: One hundred and sixty-four patients and controls who are age and gender matched, were included in this study with 1:1 ratio. Patients' included in this study were adults with confirmed liver cirrhosis. Bone mineral densitometry (BMD) at both lumbar spine (LS) and femoral neck (FN) were collected for both groups. Univariate and multivariate regression analyses were performed to identify predictors of BMD loss.

Results: Results showed that cirrhotic patients are at higher risk of developing osteoporosis or osteopenia at LS (OR 2.23, 95% CI [1.19-4.19], P = 0.01) but not at FN, when compared to control sample. Patients with cirrhosis were found to have lower vitamin D and PTH levels (P = 0.0005) and (P = 0.006), respectively. Of the possible predictors tested (gender, age, body mass index [BMI], phosphorus, calcium, parathyroid hormone (PTH), vitamin D, and Model for End Stage Liver Disease [MELD] score), female gender was the main predictor of loss of BMD at LS only (OR 4.80, 95% CI [1.47-15.73], P = 0.01).

Conclusions: The study showed that cirrhotic patients are at increased susceptibility of having decreased BMD, particularly at the LS and it highlights the need for preventive measures, especially for female patients.
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http://dx.doi.org/10.4103/sjg.SJG_74_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6253916PMC
January 2019

Pharmacokinetics-Based Adjusted Versus Standard Dose of Ribavirin Does Not Improve Virologic Response Rates in Chronic Hepatitis C Genotype 4 Patients: A Randomized Controlled Trial.

J Interferon Cytokine Res 2017 11;37(11):488-493

10 Department of Pharmacology and Toxicology, CHU Limoges , Limoges, France .

Optimal doses of Ribavirin (RBV) for hepatitis C virus (HCV) treatment are not known. To assess the safety and efficacy of PegIFNalfa-2a in combination with an adjusted (ADJ) RBV dose based on early pharmacokinetics versus a fixed standard (STD) dose of RBV in chronic HCV genotype (GT) 4-naive patients in a randomized trial. One hundred eighty-one patients were randomized. The baseline variables were similar in both arms and females were 50.3% of the patients, 76.5% had minimal-moderate fibrosis (F0-2). Sustained virologic response (SVR) was achieved in 99 (54.7%) subjects. SVR was seen in 50/90 (55.6%) of ADJ dose of RBV and 49/91 (53.9%) of STD dose subjects. Prematurely withdrawal or discontinuation of treatment prematurely in the ADJ RBV arm occurred in 11/90 patients (12.2%) compared with 6/91 subjects (6.6%) in the STD arm (P = 0.214). Similarly, virologic relapse was seen in 14/90 (15.6%) patients of the ADJ arm and 12/91 (13.2%) of the STD arm. Anemia grade 3-4 was seen in 36.7% in ADJ versus 17.6% in STD arm (P = 0.003). Occurrence of rapid virologic response and absences of F4 fibrosis predicted SVR in a univariate analysis. However, age, gender, weight, presence of diabetes, baseline alanine aminotransferase, and vitamin D levels were not significantly different in patients achieving SVR. ADJ higher doses of RBV based on its early pharmacokinetics-based RBV do not improve SVR rates in HCV GT4 treated in combination with peg-IFN alpha-2-a versus STD therapy. Patients on ADJ higher doses of RBV experienced higher rates of anemia and require more erythropoietin without increasing SVR.
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http://dx.doi.org/10.1089/jir.2017.0054DOI Listing
November 2017

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

Am J Case Rep 2017 Sep 21;18:1014-1019. Epub 2017 Sep 21.

Department of Medicine, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624779PMC
http://dx.doi.org/10.12659/ajcr.905247DOI Listing
September 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

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

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017

Solitary rectal ulcer syndrome: A single-center case series.

Saudi J Gastroenterol 2016 Nov;22(6):456-460

Department of Pathology, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.

Background/aim: Solitary rectal ulcer syndrome (SRUS) is a benign, chronic defecation disorder with varied presentations. The aim of this study is to summarize the clinical features, endoscopic findings, histological appearance, and treatment strategies associated with SRUS.

Patients And Methods: This is a retrospective study of all patients diagnosed with SRUS at the King Faisal Specialist Hospital and Research Centre in Riyadh from January 2003 to December 2013. Cases were identified using the Department of Pathology database. Data were obtained from medical records that included clinical manifestation, endoscopic findings, and histopathological features.

Results: Twenty patients were identified. The mean age was 42.5 years (±18.5) and 55% were females. Most of the patients presented with bleeding per rectum (85%), constipation (75%), and straining (50%), with a mean symptom duration of 26.7 months. The most common associated factors identified were constipation (75%), history of rectal surgery (25%), digital rectal manipulation (20%), and rectal prolapse (20%). Endoscopic findings included a single ulcer (50%) and multiple ulcers (30%); 55% had a polypoidal appearance. On histopathology, there was surface ulceration (95%), fibrosis of the lamina propria (60%), distorted architecture (55%), and muscle hypertrophy with increased mucin production (50%). Patients were treated conservatively and none required surgery.

Conclusion: SRUS is a rare disorder with variable clinical presentations. Stool softeners, a high fiber diet in addition to topical mesalamine, and biofeedback proved to be effective in this patient population.
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http://dx.doi.org/10.4103/1319-3767.195555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5184747PMC
November 2016

Tenofovir in the treatment of naïve and refractory chronic Hepatitis B: A single center experience in Saudi Arabia.

Saudi J Gastroenterol 2015 Sep-Oct;21(5):295-9

Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Background/aims: Tenofovir disoproxil fumarate (TDF) is a nucleotide analog used in the treatment of chronic hepatitis B (CHB) infection. This study evaluated the efficacy of TDF in achieving undetectable HBV DNA after 48 weeks of treatment in a Saudi cohort of CHB patients.

Patients And Methods: This retrospective study included patients treated at a tertiary care center in Saudi Arabia from January 2009 to December 2012. Of the 68 eligible patients, 51 were treatment naïve and 17 were treatment-refractory. Twenty-three patients tested positive for HBeAg. The remaining 45 patients were HBeAg-negative.

Results: The mean HBV DNA viral load decreased from 95 million IU/mL at baseline to 263 IU/mL after 48 weeks of treatment (P < 0.001). Overall, 62% of patients achieved a complete virological response (CVR) and 37% a partial virological response (PVR). Respective CVR and PVR rates according to subgroup were: HBeAg-positive (21.7% and 78.3%) and HBeAg-negative (84.4% and 15.6%). At 48 weeks, HBV DNA was undetectable in 66.7% of treatment-naÏve and 53% of treatment-refractory patients (P = 0.3). Seroconversion occurred in 13 (57%) of HBeAg-positive patients. Two (3%) of the HBeAg-negative patients lost HBsAg at follow up. Mean alanine aminotransferase decreased significantly from 134 U/L before treatment to 37 U/L at 48 weeks (P < 0.001). Significant adverse events were not encountered during the study period.

Conclusion: Forty-eight weeks of treatment with TDF reduced HBV DNA to undetectable levels in more than half of our patients regardless of whether they were treatment-naïve or refractory. HBeAg-negative (vs positive) patients experienced a better response rate.
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http://dx.doi.org/10.4103/1319-3767.164189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632254PMC
August 2016

Prospective trial in Saudi Arabia comparing the 14-day standard triple therapy with the 10-day sequential therapy for treatment of Helicobacter pylori infection.

Saudi J Gastroenterol 2015 Jul-Aug;21(4):220-5

Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Background/aims: Treatment success for Helicobacter pylori infection in Saudi Arabia is relatively unexplored. This prospective study compared the efficacy of sequential versus standard triple therapy in curing H. pylori infections.

Patients And Methods: Eligible patients underwent upper endoscopy at a single center in Saudi Arabia from October 2011 to February 2014. Patients who tested positive for H. pylori infection were randomly assigned to sequential therapy or standard triple therapy. Sequential treatment: Esomeprazole (20 mg bid for 10 days), amoxicillin (1000 mg for 5 days), then clarithromycin 500 mg and tinidazole 500 mg; both bid for 5 days. Standard triple treatment: Esomeprazole 20 mg, clarithromycin 500 mg, and amoxicillin 1000 mg each bid for 14 days. After 6 weeks of treatment, patients were tested for cure using a validated urea breath test. Application of the E-test determined susceptibility of H. pylori to different antibiotics.

Results: Of the 115 patients who received sequential therapy, 93 completed treatment. In the triple-therapy arm, 103 of 117 patients completed treatment. The eradication rate was 58/93 (62.3%) with sequential therapy and 69/102 (67.6%) with standard triple therapy, P = 0.44. Risk ratio was 0.92 (95% CI; 0.75-1.13), and number needed to treat was 19. Overall primary resistance: Metronidazole (48.5%), clarithromycin (23.3%), amoxicillin (14.8%), levofloxacin (11.1%), and tetracycline (2.3%). Mild adverse events occurred in 35 and 17 patients in the sequential and standard therapy groups, respectively.

Conclusion: Sequential and standard triple therapies were similarly effective at eradicating H. pylori in two-thirds of Saudi patients. Metronidazole and clarithromycin resistance to H. pylori strains was common.
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http://dx.doi.org/10.4103/1319-3767.161647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542420PMC
May 2016

Diagnostic Utility of Impedance-pH Monitoring in Refractory Non-erosive Reflux Disease.

J Neurogastroenterol Motil 2014 Oct;20(4):497-505

Section of Gastroenterology, Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Background/aims: Approximately one-third of non-erosive reflux disease (NERD) patients are refractory to proton pump inhibitors (PPI) and face a therapeutic challenge. Therefore, it is important to differentiate between pathological and non-pathological reflux utilizing multichannel intraluminal impedance-pH (MII-pH) to analyze symptom-reflux association and diagnose true NERD versus hyper-sensitive esophagus (HE) and functional heartburn (FH). Herein, we evaluated the diagnostic yield of MII-pH in refractory NERD and sub-classified it based on quantity and quality of acid/non-acid reflux and reflux-symptom association.

Methods: Sixty symptomatic NERD patients on twice daily PPI for > 2 months were prospectively evaluated by MII-pH. Distal and prox-imal refluxes, bolus exposure time (BET), esophageal acid exposure time, symptom index (SI) and symptom association proba-bility (SAP) were measured.

Results: Thirty-two (53%) patients had BET > 1.4% (MII-pH positive-true NERD), while 28 (47%) had BET < 1.4% (MII-pH negative NERD) where SI and SAP were negative in 15/60 (25%; categorized as FH) and SI or SAP were positive in 13/60 (22%; identi-fied as HE). Thirty-eight (63%) patients reported significant SI or SAP parameters where > 80% of symptoms were associated with non-acid reflux. The number of distal refluxes in true NERD versus FH or HE were significantly different, but not between FH and HE.

Conclusions: Approximately 60% of refractory PPI NERD patients had positive reflux-symptom association, primarily due to non-acid reflux. Nearly half of NERD patients on PPI had normal MII-pH monitoring, sub-divided further into FH and HE equally.(J Neurogastroenterol Motil 2014;20:497-505).
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http://dx.doi.org/10.5056/jnm14038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204403PMC
October 2014

Levofloxacin-based first-line therapy versus standard first-line therapy for Helicobacter pylori eradication: meta-analysis of randomized controlled trials.

PLoS One 2014 21;9(1):e85620. Epub 2014 Jan 21.

Department of Family Medicine & Polyclinics, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia.

Background: First-line levofloxacin-based treatments eradicate Helicobacter pylori with varying success. We examined the efficacy and safety of first-line levofloxacin-based treatment in comparison to standard first-line therapy for H pylori eradication.

Materials And Methods: We searched literature databases from Medline, EMBASE, and the Cochrane Register of Randomized Controlled Trials through March 2013 for randomized controlled trials comparing first-line levofloxacin and standard therapy. We included randomized controlled trials conducted only on naïve H pylori infected patients in adults. A systematic review was conducted. Meta-analysis was performed with Review Manager 5.2. Treatment effect was determined by relative risk with a random or fixed model by the Mantel-Haenszel method.

Results: Seven trials were identified with 888 patients receiving 7 days of first-line levofloxacin and 894 treated with standard therapy (Amoxicillin, Clarithromycin and proton pump inhibitor) for 7 days. The overall crude eradication rate in the Levofloxacin group was 79.05% versus 81.4% in the standard group (risk ratio 0.97; 95% CI; 0.93, 1.02). The overall dropout was 46 (5.2%) in the levofloxacin group and 52 (5.8%) for standard therapy. The dizziness was more common among group who took Levofloxacin based treatment and taste disturbance was more common among group who took standard therapy. Meta-analysis of overall adverse events were similar between the two groups with a relative risk of 1.06 (95% CI 0.72, 1.57).

Conclusion: Helicobacter pylori eradication with 7 days of Levofloxacin-based first line therapy was safe and equal compared to 7 days of standard first-line therapy.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085620PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897467PMC
October 2014

Predictors of significant fibrosis in chronic hepatitis B patients with low viremia.

J Clin Gastroenterol 2014 Jul;48(6):e50-6

*College of Medicine, Liver Disease Research Center, King Saud University †Department of Medicine, Liver Unit, Division of Gastroenterology and Hepatology, University of Calgary, AB, Canada ‡Department of Gastroenterology, Riyadh Military Hospital, Riyadh §Department of Medicine, Division of Gastroenterology, King Fahad General Hospital, Jeddah ∥Department of Medicine, Division of Gastroenterology ¶Department of Pathology, King Faisal Specialist Hospital & Research Center Departments of #Pathology **Hepatobiliary Sciences & Liver Transplantation, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Background And Aim: The data on the prevalence and predictors of significant fibrosis (≥F2, METAVIR) in chronic hepatitis B virus (HBV) patients with low viremia are limited. We aimed to assess both the prevalence predictors of ≥F2 fibrosis in hepatitis B envelope antigen-negative patients with HBV DNA <20,000 IU/mL.

Methods: Hepatitis B envelope antigen-negative patients (n=213) with mean HBV DNA <2000 IU/mL (n=97) and HBV DNA 2000 to 20,000 IU/mL (n=116) were included and all had liver biopsy. Variables significantly associated with ≥F2 fibrosis on an univariate analysis were included in a multivariate logistic regression model.

Results: Overall, 40 (18.8%) patients had ≥F2 fibrosis, with no difference between those with mean HBV DNA <2000 IU/mL (19.6%) compared with patients with HBV DNA of 2000 to 20,000 IU/mL (18.1%; P=0.782). Fibrosis ≥F2 was similar in patients with HBV DNA <2000 versus 2000 to 20,000 IU/mL in relation to varying alanine aminotransferase thresholds (P>0.05), and was less frequent in persistently normal alanine aminotransferase patients (13.6%) when compared with those with elevated or fluctuating levels (25.3%, P=0.030). Fewer patients under 40 years of age had ≥F2 fibrosis (12.5%) as compared with older ones (28.2%; P=0.004). Logistic regression analysis identified higher aspartate aminotransferase [odds ratio (OR), 6.21; 95% confidence interval (CI), 2.48-15.54; P<0.0001], lower albumin (OR, 0.86; 95% CI, 0.78-0.95; P=0.002), platelet count (OR, 0.99; 95% CI, 0.98-0.99; P=0.013), and age (OR, 1.05; 95% CI, 1.01-1.09; P=0.024) as independent predictors of significant fibrosis.

Conclusions: A small but significant minority of HBV patients with low viremia harbor significant fibrosis, although its rate is not different in those with viremia above or below 2000 IU/mL. Our findings may guide in decisions regarding liver biopsy and treatment in this category of patients.
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http://dx.doi.org/10.1097/MCG.0b013e3182a9a2e1DOI Listing
July 2014

Accuracy of international guidelines for identifying significant fibrosis in hepatitis B e antigen--negative patients with chronic hepatitis.

Clin Gastroenterol Hepatol 2013 Nov 28;11(11):1493-1499.e2. Epub 2013 Jun 28.

Department of Hepatobiliary Sciences and Liver Transplantation, King Abdulaziz Medical City, Riyadh, Saudi Arabia; Liver Disease Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address:

Background & Aims: Differing threshold levels of hepatitis B virus (HBV) DNA and alanine aminotransferase (ALT) are recommended by international guidelines for commencement of antiviral therapy. These guidelines advocate therapy for patients with significant fibrosis (METAVIR score ≥F2); we assessed the accuracy of these guideline-defined thresholds in identifying patients with ≥F2 fibrosis.

Methods: We applied the European (European Association for the Study of the Liver [EASL] 2012), Asian-Pacific (Asian-Pacific Association for the Study of the Liver [APASL] 2012), American (American Association for the Study of Liver Diseases [AASLD] 2009), and United States Panel Algorithm (USPA 2008) criteria to 366 consecutive hepatitis B e antigen-negative patients with liver biopsy samples: EASL, ALT >laboratory-defined upper limit of normal (ULN) and HBV DNA ≥2000 IU/mL (n = 171); APASL, ALT >2-fold laboratory-defined ULN and HBV DNA ≥2000 IU/mL (n = 87); AASLD, ALT >2-fold the updated ULN (0.5-fold ULN [corresponding to ≤19 U/L] for women and 0.75-fold the ULN [corresponding to ≤30 U/L] for men) and HBV DNA ≥20,000 IU/mL (n = 53); and USPA, ALT >updated ULN (>0.5-fold ULN for women and >0.75-fold ULN for men) and HBV DNA ≥2000 IU/mL (n = 173).

Results: Overall, 113 patients (30.9%) had ≥F2 fibrosis, which was more frequent among patients who fulfilled any guideline criteria (45.7% vs 17.9% for those who did not fulfill any criteria, P < .0001). In applying the EASL, AASLD, APASL, and USPA criteria, sensitivity and specificity values for detection of ≥F2 fibrosis were 45.6%, 58.5%, 56.3%, and 45.7% (P = .145) and 82.1%, 73.8%, 77.1%, and 82.4% (P = .366), respectively. The EASL criteria (area under the receiver operating characteristic [AUROC] curve, 0.66; 95% confidence interval [CI], 0.61-0.71) and USPA criteria (AUROC, 0.66; 95% CI, 0.58-0.73) performed better than APASL (AUROC, 0.64; 95% CI, 0.59-0.69; P = .421) and significantly better than the AASLD criteria (AUROC, 0.59; 95% CI, 0.54-0.64; P = .013).

Conclusions: In hepatitis B e antigen-negative patients with chronic hepatitis, the EASL, AASLD, APASL, and USPA criteria identify patients with ≥F2 fibrosis with low levels of accuracy. However, the EASL and USPA criteria are the most accurate for identification of these patients.
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http://dx.doi.org/10.1016/j.cgh.2013.05.038DOI Listing
November 2013

Hepatosplenic T-cell lymphoma.

Indian J Hematol Blood Transfus 2011 Mar 12;27(1):39-42. Epub 2011 Feb 12.

Section of Gastroenterology, Department of Medicine (MBC-46), King Faisal Specialist Hospital & Research Centre (KFSH&RC), P. O. Box 3354, Riyadh, 11211 Saudi Arabia.

We report an uncommon case of 38-year-old male patient with Hepatosplenic T-Cell lymphoma (HSTCL) which is a rare aggressive form of Peripheral T-Cell lymphoma that is characterized by primary extranodal disease with malignant T-cell proliferation in the liver, spleen, and bone marrow. Our patient presented with progressive painless jaundice, weight loss and massive hepatosplenomegaly. The diagnosis was challenging as he required an extensive investigations that ultimately showed the characteristic clinical, histopathologic, and cytogenetic features of hepatosplenic T-cell lymphoma.
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http://dx.doi.org/10.1007/s12288-010-0051-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102508PMC
March 2011

Comparison of cancer care for hepatocellular carcinoma at two tertiary-care referral centers from high and low endemic regions for viral hepatitis.

J Gastrointest Cancer 2011 Dec;42(4):228-35

Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

Background: Risk factors for hepatocellular carcinoma (HCC) have geographic variability but differences in care have not been described. We reviewed the presentation, management, and outcomes of HCC patients from two tertiary-referral centers in Central Saudi Arabia and Atlantic Canada during 1997-2002.

Methods: Data were extracted from health records of 96 Saudi and 80 Canadian consecutive patients with HCC.

Results: Mean age (± SEM) of the two groups were similar (64 + 1 and 65 + 1 years) with 93% versus 75% males amongst Canadian and Saudi patients, respectively. In Canada, underlying disease was alcohol-related cirrhosis (45%), cryptogenic cirrhosis (26%), or hepatitis C (13%). For Saudis, HCC cases were attributed to hepatitis C (47%), cryptogenic cirrhosis (27%), and hepatitis B (21%). At initial presentation, Saudi patients had more vascular invasion and distant metastases while Canadians had more advanced liver disease. The tumor-specific prognostic classifications were comparable. Due to center-specific expertise or preference, symptomatic treatment was more common amongst Saudi patients (83% versus 42%) while more Canadians underwent local palliative interventions (52% versus 12%). Frequency of potentially curative therapies including resection and transplantation were similar at both centers. There was no difference in overall median survival (14 versus 10 months) amongst Canadian and Saudi patients.

Conclusions: This study validates divergence in HCC presentation between low and high endemic regions for viral hepatitis. In addition, for the first time, differences in cancer care of HCC are documented.
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http://dx.doi.org/10.1007/s12029-010-9200-xDOI Listing
December 2011

Does onsite cytotechnology evaluation improve the accuracy of endoscopic ultrasound-guided fine-needle aspiration biopsy?

Can J Gastroenterol 2009 Jan;23(1):26-30

University of Alberta, Edmonton, Alberta, Canada.

Background: Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is the preferred modality for the cytological diagnosis of various cancers. Onsite cytopathology interpretation is not available in most centres.

Objective: To assess whether the the adequacy of tissue sampling assessed by an onsite cytotechnologist improves the diagnostic accuracy of EUS-FNA.

Methods: The present study is a retrospective review of all patients undergoing solid mass EUS-FNA between September 2005 and August 2007. Patients in group I (September 2005 to August 2006) had cytology slides prepared by an endoscopy nurse. Patients in group II (September 2006 to August 2007) had cytology slides prepared, stained and assessed for adequacy of tissue sampling by a cytotechnologist in the endoscopy suite. The final cytopathological diagnosis (definitely positive, definitely negative or inconclusive) was compared between the two groups.

Results: A total of 49 EUS-FNA procedures were performed in 47 patients in group I and 60 EUS-FNA procedures in 55 patients in group II. Pancreatic masses were the most common target site in both groups. The total number of needle passes was 105 in group I (mean 2.14 passes per patient; range one to five needle passes) and 158 in group II (mean 2.63 passes per patient; range one to four needle passes). The difference in the number of needle passes was not statistically significant between groups. The final diagnosis was definite in 53% in group I compared with 77% in group II (P=0.01). The percentage of inconclusive diagnoses was 47% in group I and 23% in group II (P=0.001).

Conclusion: Onsite cytotechnologist interpretation of adequacy of tissue sampling significantly improves the diagnostic yield of EUS-FNA. This appears to be independent of the total number of needle passes undertaken for tissue sampling.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2695144PMC
http://dx.doi.org/10.1155/2009/194351DOI Listing
January 2009

The impact of preoperative endoscopic ultrasound on the surgical management of pancreatic neuroendocrine tumours.

Can J Gastroenterol 2008 Oct;22(10):817-20

Department of Medicine, University of Alberta, Edmonton, Alberta.

Background: Endoscopic ultrasound (EUS) is accurate in diagnosing pancreatic neuroendocrine tumours (PNETs), but its impact on surgical management is unclear.

Objective: To determine whether preoperative EUS findings altered the decision for, and extent of, surgery in patients with PNETs.

Methods: A retrospective review of patients referred for EUS because of suspected PNETs was conducted. The diagnosis of PNETs was confirmed by EUS-guided fine needle aspiration cytology, where indicated, or by surgical histology. EUS findings were compared with computed tomography (CT) findings to determine whether there was an impact on the decision for surgical management.

Results: Fourteen patients (10 women), with a mean age of 44 years, underwent EUS for suspected PNETs. PNETs were seen with CT in 10 of 13 patients (77%) and with EUS in 14 of 14 patients (100%). One obese patient could not fit into the CT scanner. This patient had five PNETs on EUS. Three patients with a normal CT scan were determined to have one or two PNETs on EUS. Three patients with one or two PNETs on CT were found to have five to eight PNETs on EUS. EUS altered the decision for possible surgical management in five of 14 patients (36%), either by identifying a PNET or by finding multiple and multifocal PNETs that were not visualized on CT scans.

Conclusion: EUS is useful in the preoperative assessment of PNETs by providing information that significantly influences the decision for surgical intervention or changes the extent of the planned surgery.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2661300PMC
http://dx.doi.org/10.1155/2008/868369DOI Listing
October 2008