Ghassan Sukkar | King AbdulAziz University (KAU) Jeddah, Saudi Arabia (original) (raw)

Papers by Ghassan Sukkar

Interdisciplinary Perspectives on Infectious Diseases, Oct 12, 2023

Research Square (Research Square), Jun 26, 2024

Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated in ammatory disease of th... more Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated in ammatory disease of the esophagus. Adult study demonstrated effectiveness of dupilumab in the treatment of EoE. The aim of this study was to describe children who were di cult-to-treat EoE with conventional treatment and to identify symptomatic, histologic, and endoscopic improvement after dupilumab treatment. Methods: A retrospective, multicenter study of children who con rmed EoE were conducted. We completed the chart review who were prescribed dupilumab for EoE. Demographic information, symptoms, endoscopic and histologic ndings, and medications were collected. Response to dupilumab was evaluated. Results: We identi ed 11 patients in the present study. The study population comprised 7 males (64 %) and 4 female (36 %). The median age at presentation was 11.6 years (range, 8-13 years). Dupilumab at a dose of 200-300 mg was administrated in all patients as second-line therapy for children with EoE who refractory to conventional therapy (proton pump inhibitors, corticosteroids, and dietary restrictions). The study reported the effectiveness of dupilumab in symptoms, endoscopy, and histology were 82%, 73% and 90%, respectively. The mean EoE Endoscopic Reference Scoring System Scores (EREFS) changed from baseline 9.4 (prior to dupilumab) to 0.5 (post dupilumab). In addition to improvement in EoE, all patients reported decreased corticosteroid use in EoE and decreased inhaled corticosteroid in asthma, suggesting that dupilumab has the potential to be effective in patients with multiple concurrent atopic conditions. Dupilumab is well-tolerated safety pro le except one patient who developed conjunctivitis. Conclusions: This rst largest pediatric study adds to the effectiveness of dupilumab in symptoms, endoscopy, and histology of EoE as a second-line therapy who refractory to current therapy. A longitudinal large prospective study is necessary for guidance on how to initiate dupilumab for treatment of childhood EoE and long follow-up data on dupilumab.

International Journal of Medicine in Developing Countries, 2021

Cureus, Nov 25, 2020

Background and aim Celiac disease is an immune-mediated disorder caused by sensitivity to dietary... more Background and aim Celiac disease is an immune-mediated disorder caused by sensitivity to dietary gluten. Celiac patients typically present with malabsorption and low growth parameters; however, studies have shown that the presentation of celiac disease can have a higher percentage of patients with normal or high growth parameters and no signs of malabsorption. The study aims to estimate the prevalence of the growth variation found in children with biopsy-confirmed celiac disease at the time of diagnosis. Methods We included 31 biopsy-confirmed pediatric celiac patients diagnosed from 2007 to 2018 in King Abdulaziz Medical City, Jeddah, Saudi Arabia. Patients' height, weight, and BMI at the time of diagnosis were converted to z-scores and growth percentiles according to the Centers for Disease Control and Prevention growth charts. In addition, patients' comorbid conditions were also recorded. Results At the time of diagnosis, 45.16% of our patients presented as underweight, 41.94% of patients had normal weight, 6.5% were overweight and obese, respectively. The mean BMI was 15.44 (±3.65). Our population had a statistically significant lower BMI, height, and weight mean z-scores at the time of diagnosis. Conclusion A significant number of children diagnosed with celiac disease in our center had low weight, height, and BMI at the time of diagnosis. However, we emphasize that having normal growth parameters does not rule out the diagnosis of celiac disease.

Saudi Journal of Gastroenterology, 2014

Sclerosing mesenteritis (SM) is a chronic, nonspecific inflammatory and fibrotic process involvin... more Sclerosing mesenteritis (SM) is a chronic, nonspecific inflammatory and fibrotic process involving the adipose tissue of the small bowel mesentery. This rare disease was first reported by Durst et al. [1] SM commonly affects small bowel mesentery and less commonly large bowel mesentery and the omentum with rare involvement of the pancreas and retroperitoneum. [2] SM can present serious clinical challenges for clinicians, as it can be mistaken for lymphoma, vasculitis, granulomatous diseases, and carcinomatosis. [3] The present paper describes a seven year-old girl who presented with anorexia, weight loss, chronic diarrhea, and abdominal pain, mimicking Crohn's disease and abdominal tuberculosis. She underwent exploratory laparotomy for a strong suspicion of lymphoma but tissue biopsy revealed SM associated with IgG4-related systemic disease (IgG4-RSD). A review of the literature is also provided. CASE REPORT A seven year-old girl was admitted with a one month history of colicky abdominal pain, vomiting, diarrhea, and fever. For three years, she had recurrent fever, vomiting, and diarrhea, which was fully investigated including colonoscopy and was eventually diagnosed as abdominal tuberculosis. The patient was commenced on antituberculosis treatment for 9 months but showed no improvement. One year later, a further admission with similar symptoms and signs warranted a computed tomography (CT) scan, which demonstrated a stricture in the terminal ileum suspecting Crohn's disease. She did not respond to steroid, azathioprine, and infliximab. Family history was noncontributory for gastrointestinal or autoimmune diseases. There was no history of night sweat, skin rash, joint pain, or recent travel. The patient had normal developmental milestones. On admission to hospital, the physical examination revealed evidence of growth retardation. No hepatosplenomegaly, lymphadenopathy, or skin rashes were noted. Other systemic examination was unremarkable. The laboratory findings revealed normal

Saudi Journal of Gastroenterology, 2012

Hepatitis B virus (HBV) infection is a worldwide health problem. Consensus guidelines for the tre... more Hepatitis B virus (HBV) infection is a worldwide health problem. Consensus guidelines for the treatment of chronic HBV in children have not been established, and indications for antiviral therapy in adults with chronic HBV infection may not be applicable to children. The medications that are Food and Drug Administration approved for the treatment of children with HBV include interferon (IFN)-alpha and lamivudine. Nondetectable serum HBV deoxyribonucleic acid, Hepatitis B envelope antigen (HBeAg) loss, and HBeAg seroconversion following 1 year duration of entecavir treatment. A review of the literature of entecavir treatment of chronic hepatitis B in children is also provided.

Saudi Journal of Gastroenterology, 2012

Background/Aim: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in... more Background/Aim: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in 0.4%-2.3% of all live births. The clinical manifestations of CMV are multiorgan involvement. Currently, the numbers of studies of hepatic CMV infection in immunocompetent infants are insufficient and little information exists in the medical literature about the hepatic manifestations and complications of CMV. Patients and Methods: Nine infants diagnosed with hepatic CMV infection were included in the study. The diagnosis was based on the presence of IgM anti-CMV antibodies titer in serum and detection of CMV-DNA in blood. The authors identified clinical characteristics, biochemical characteristics, immunologic markers, and the outcome of hepatic CMV with or without treatment. Results: Jaundice was the most common clinical feature of CMV infection in infancy (100%). Hepatic abnormalities in the form of cholestasis (defined as a serum conjugated bilirubin concentration greater than 17.1 µmol/L or greater than 20% of the total serum bilirubin) were found in all patients (100%), hepatitis (77%), hypoalbuminemia (55%), elevated alkaline phosphatase, and gamma-glutamyltransferase (77%). Other findings showed hepatosplenomegaly (44%), thrombocytopenia (22%) and low birth weight (11%) The treatment of hepatic CMV infection was indicated in 66% and was not indicated in 33%. Both of them had resolved cholestasis and hepatitis. Conclusion: Jaundice and cholestasis were the most common clinical features of hepatic CMV infections. Hepatic CMV infection in young infants is often a self-limited illness that does not require antiviral therapy. Most of the patients with hepatic CMV infection had a favorable outcome.

Saudi Journal of Gastroenterology, 2011

Background/Aim: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esop... more Background/Aim: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esophageal symptoms in association with a dense eosinophilic infiltrate currently defined as >15 eosinophils per high power field in the appropriate clinical context. This is the first pediatric study in Saudi Arabia to give the experience with EE and examine its symptom, histology and endoscopy results. Materials and Methods: Retrospective chart review of all patients diagnosed with EE at National Guard Hospital, Jeddah Between 2007 and 2009. The authors identified EE on histologic criteria (≥15 eosinophils per high-power field) together with their clinical context. The authors reviewed medical records for details of clinical presentation, laboratory data, radiologic, endoscopic, and histologic findings, and the results of treatment. Results: We identified 15 patients in our database in the last three years. 100% of the patients were males. The median age at presentation was 10 years (range, 3-17 years). The commonly reported symptoms were failure to thrive (86%), epigastric abdominal pain (53%), poor eating (40%), dysphagia with solid food (26%), food impaction (13%), and vomiting (20%). Asthma was reported in 46% and allergic rhinitis in 40%. Peripheral eosinophilia (>0.7 × 10/l) was found in 66%. High serum IgE Level (>60 IU/ml) was found in 60%. Upper endoscopic analysis revealed esophageal trachealization in 46%, esophageal erythema in 46%, white specks on the esophageal mucosa in 33%, esophageal narrowing in 13%, and normal endoscopy in 13%. The mean eosinophils per high-power field was 30.4 (range, 20-71). Histologic characteristics included degranulated eosinophils (86%), basal cell hyperplasia (93%) and eosinophils clusters (micro-abscess) in 73%. The treatment of EE revealed that they used swallowed corticosteroid in 50%, proton pump inhibitors in 66%, elemental diet/ food elimination in 13% and systemic corticosteroid in 13%. Conclusions: Failure to thrive and abdominal pain in a male, atopic school-aged child was the most common feature of EE. Peripheral eosinophilia, high serum IgE and endoscopic esophageal erythema and trachealization should significantly raise the clinical index of suspicion for the diagnosis of EE.

Annals of Human Biology, 2013

Helicobacter pylori infection is very common worldwide. To evaluate the prevalence and identify t... more Helicobacter pylori infection is very common worldwide. To evaluate the prevalence and identify the risk factors for Helicobacter pylori infection in Chinese maritime workers. Between March 2010 and October 2010, 3995 subjects were selected in the Hospital of Dalian Port. The presence of Helicobacter pylori infection was confirmed using laboratory tests (serum IgG anti-Helicobacter pylori antibodies) and background information, family history, lifestyle and eating habits were collected using questionnaires. The prevalence of Helicobacter pylori infection was 44.9% in these Chinese maritime workers. Prevalence of Helicobacter pylori infection was associated with family income, living space, family history of gastrointestinal diseases, smoking, drinking tea, raw vegetables consumption, spicy food, pickle food, dining outside, no regular meal and dish sharing. Further analysis with multivariate logistic regression analysis indicated that raw vegetables consumption, pickle food consumption, family income and family history of gastrointestinal diseases were independent predictors for Helicobacter pylori infection. No association was found between infection and gender, marital status, education, alcohol consumption and tap water consumption. Helicobacter pylori infection is associated with raw vegetables consumption, pickle food consumption, family income and family history of gastrointestinal disease among Chinese maritime workers.

Cureus

Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recess... more Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has also been expanded to include metabolism and endocrine systems. Despite its function as a tumor suppressor gene, genetic alterations in WWOX have been found in several metabolic disorders and neural diseases related to brain development. Whole-exome sequencing (WES) was performed on the patient sample. Genomic DNA was fragmented, and the exons of known genes in the human genome, as well as the corresponding exonintron boundaries, were enriched using Roche KAPA capture technology (KAPA hyperExome Library, WES identifying the homozygous variant c.406A>G in WWOX (OMIM:605131). This variant of WWOX was also observed in the prenatal WES data, indicating that both parents were heterozygous carriers and the detected variant was homozygous. This study highlighted the importance of the human WWOX gene in brain development and the association between WWOX gene mutations and developmental delay. We recommend performing WES as a primary screening before the final diagnosis, particularly in populations with high rates of consanguinity and in clinically challenging cases.

Saudi Medical Journal, 2010

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrh... more Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.

Saudi Medical Journal, 2013

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 2017

Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 ... more Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome sequencing. Our case provides a new insight toward considering NBAS mutation as a part of the differential diagnoses of any infant presenting with recurrent liver failure or hepatitis. We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction.

Saudi medical journal, 2013

Saudi medical journal, 2010

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrh... more Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.

The Egyptian Journal of Internal Medicine

Background Percutaneous liver biopsy is one of the widely accepted procedures to find any disorde... more Background Percutaneous liver biopsy is one of the widely accepted procedures to find any disorder, infection, and disease. Understanding the correlation between biopsy factors and adequacy rate will improvize efficacy and safety of biopsy. Objectives This study was carried out to find the effect of needle size on the adequacy rate of biopsy and also to establish the association of factors such as BMI, cumulative length, and the number of cores to adequacy rate of biopsy. Materials and methods This retrospective review study was carried out at King Abdul-Aziz Medical City, MNGHA, Jeddah, Saudi Arabia. The data were acquired on adult patients who underwent percutaneous liver biopsy for 2010-2016 time periods. The data were analyzed by using the statistical package for social sciences, version 23. Results No significant difference was observed in the adequacy rate of biopsy among samples of different needles (P=0.998). Similarly, BMI and guidance did not significantly (P=0.860 and 0.873) affect the adequacy rate. However, the number of cores (P<0.001) and cumulative length (P<0.001) had a significant effect on adequacy rate. Finally, only cumulative length (2.4 cm) was significantly correlated (P<0.05) to the adequacy rate of Percutaneous liver biopsy (PLB). Conclusion The adequacy rate significantly depends on cumulative length and the number of cores. However, further studies are required to establish a conclusive relationship between factors and adequacy rate.

Saudi medical journal, 2010

Notice: Authors are encouraged to submit quizzes for possible publication in the Journal. These m... more Notice: Authors are encouraged to submit quizzes for possible publication in the Journal. These may be in any specialty, and should approximately follow the format used here (maximum of 2 figures). Please address any submissions to: Editor, Saudi Medical Journal, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia. Tel. +966 (1) 4777714 Ext. 6570. Fax. +966 (1) 4761810 or 4777194.

International Journal of Medicine in Developing Countries

Interdisciplinary Perspectives on Infectious Diseases, Oct 12, 2023

Research Square (Research Square), Jun 26, 2024

Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated in ammatory disease of th... more Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated in ammatory disease of the esophagus. Adult study demonstrated effectiveness of dupilumab in the treatment of EoE. The aim of this study was to describe children who were di cult-to-treat EoE with conventional treatment and to identify symptomatic, histologic, and endoscopic improvement after dupilumab treatment. Methods: A retrospective, multicenter study of children who con rmed EoE were conducted. We completed the chart review who were prescribed dupilumab for EoE. Demographic information, symptoms, endoscopic and histologic ndings, and medications were collected. Response to dupilumab was evaluated. Results: We identi ed 11 patients in the present study. The study population comprised 7 males (64 %) and 4 female (36 %). The median age at presentation was 11.6 years (range, 8-13 years). Dupilumab at a dose of 200-300 mg was administrated in all patients as second-line therapy for children with EoE who refractory to conventional therapy (proton pump inhibitors, corticosteroids, and dietary restrictions). The study reported the effectiveness of dupilumab in symptoms, endoscopy, and histology were 82%, 73% and 90%, respectively. The mean EoE Endoscopic Reference Scoring System Scores (EREFS) changed from baseline 9.4 (prior to dupilumab) to 0.5 (post dupilumab). In addition to improvement in EoE, all patients reported decreased corticosteroid use in EoE and decreased inhaled corticosteroid in asthma, suggesting that dupilumab has the potential to be effective in patients with multiple concurrent atopic conditions. Dupilumab is well-tolerated safety pro le except one patient who developed conjunctivitis. Conclusions: This rst largest pediatric study adds to the effectiveness of dupilumab in symptoms, endoscopy, and histology of EoE as a second-line therapy who refractory to current therapy. A longitudinal large prospective study is necessary for guidance on how to initiate dupilumab for treatment of childhood EoE and long follow-up data on dupilumab.

International Journal of Medicine in Developing Countries, 2021

Cureus, Nov 25, 2020

Background and aim Celiac disease is an immune-mediated disorder caused by sensitivity to dietary... more Background and aim Celiac disease is an immune-mediated disorder caused by sensitivity to dietary gluten. Celiac patients typically present with malabsorption and low growth parameters; however, studies have shown that the presentation of celiac disease can have a higher percentage of patients with normal or high growth parameters and no signs of malabsorption. The study aims to estimate the prevalence of the growth variation found in children with biopsy-confirmed celiac disease at the time of diagnosis. Methods We included 31 biopsy-confirmed pediatric celiac patients diagnosed from 2007 to 2018 in King Abdulaziz Medical City, Jeddah, Saudi Arabia. Patients' height, weight, and BMI at the time of diagnosis were converted to z-scores and growth percentiles according to the Centers for Disease Control and Prevention growth charts. In addition, patients' comorbid conditions were also recorded. Results At the time of diagnosis, 45.16% of our patients presented as underweight, 41.94% of patients had normal weight, 6.5% were overweight and obese, respectively. The mean BMI was 15.44 (±3.65). Our population had a statistically significant lower BMI, height, and weight mean z-scores at the time of diagnosis. Conclusion A significant number of children diagnosed with celiac disease in our center had low weight, height, and BMI at the time of diagnosis. However, we emphasize that having normal growth parameters does not rule out the diagnosis of celiac disease.

Saudi Journal of Gastroenterology, 2014

Sclerosing mesenteritis (SM) is a chronic, nonspecific inflammatory and fibrotic process involvin... more Sclerosing mesenteritis (SM) is a chronic, nonspecific inflammatory and fibrotic process involving the adipose tissue of the small bowel mesentery. This rare disease was first reported by Durst et al. [1] SM commonly affects small bowel mesentery and less commonly large bowel mesentery and the omentum with rare involvement of the pancreas and retroperitoneum. [2] SM can present serious clinical challenges for clinicians, as it can be mistaken for lymphoma, vasculitis, granulomatous diseases, and carcinomatosis. [3] The present paper describes a seven year-old girl who presented with anorexia, weight loss, chronic diarrhea, and abdominal pain, mimicking Crohn's disease and abdominal tuberculosis. She underwent exploratory laparotomy for a strong suspicion of lymphoma but tissue biopsy revealed SM associated with IgG4-related systemic disease (IgG4-RSD). A review of the literature is also provided. CASE REPORT A seven year-old girl was admitted with a one month history of colicky abdominal pain, vomiting, diarrhea, and fever. For three years, she had recurrent fever, vomiting, and diarrhea, which was fully investigated including colonoscopy and was eventually diagnosed as abdominal tuberculosis. The patient was commenced on antituberculosis treatment for 9 months but showed no improvement. One year later, a further admission with similar symptoms and signs warranted a computed tomography (CT) scan, which demonstrated a stricture in the terminal ileum suspecting Crohn's disease. She did not respond to steroid, azathioprine, and infliximab. Family history was noncontributory for gastrointestinal or autoimmune diseases. There was no history of night sweat, skin rash, joint pain, or recent travel. The patient had normal developmental milestones. On admission to hospital, the physical examination revealed evidence of growth retardation. No hepatosplenomegaly, lymphadenopathy, or skin rashes were noted. Other systemic examination was unremarkable. The laboratory findings revealed normal

Saudi Journal of Gastroenterology, 2012

Hepatitis B virus (HBV) infection is a worldwide health problem. Consensus guidelines for the tre... more Hepatitis B virus (HBV) infection is a worldwide health problem. Consensus guidelines for the treatment of chronic HBV in children have not been established, and indications for antiviral therapy in adults with chronic HBV infection may not be applicable to children. The medications that are Food and Drug Administration approved for the treatment of children with HBV include interferon (IFN)-alpha and lamivudine. Nondetectable serum HBV deoxyribonucleic acid, Hepatitis B envelope antigen (HBeAg) loss, and HBeAg seroconversion following 1 year duration of entecavir treatment. A review of the literature of entecavir treatment of chronic hepatitis B in children is also provided.

Saudi Journal of Gastroenterology, 2012

Background/Aim: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in... more Background/Aim: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in 0.4%-2.3% of all live births. The clinical manifestations of CMV are multiorgan involvement. Currently, the numbers of studies of hepatic CMV infection in immunocompetent infants are insufficient and little information exists in the medical literature about the hepatic manifestations and complications of CMV. Patients and Methods: Nine infants diagnosed with hepatic CMV infection were included in the study. The diagnosis was based on the presence of IgM anti-CMV antibodies titer in serum and detection of CMV-DNA in blood. The authors identified clinical characteristics, biochemical characteristics, immunologic markers, and the outcome of hepatic CMV with or without treatment. Results: Jaundice was the most common clinical feature of CMV infection in infancy (100%). Hepatic abnormalities in the form of cholestasis (defined as a serum conjugated bilirubin concentration greater than 17.1 µmol/L or greater than 20% of the total serum bilirubin) were found in all patients (100%), hepatitis (77%), hypoalbuminemia (55%), elevated alkaline phosphatase, and gamma-glutamyltransferase (77%). Other findings showed hepatosplenomegaly (44%), thrombocytopenia (22%) and low birth weight (11%) The treatment of hepatic CMV infection was indicated in 66% and was not indicated in 33%. Both of them had resolved cholestasis and hepatitis. Conclusion: Jaundice and cholestasis were the most common clinical features of hepatic CMV infections. Hepatic CMV infection in young infants is often a self-limited illness that does not require antiviral therapy. Most of the patients with hepatic CMV infection had a favorable outcome.

Saudi Journal of Gastroenterology, 2011

Background/Aim: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esop... more Background/Aim: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esophageal symptoms in association with a dense eosinophilic infiltrate currently defined as >15 eosinophils per high power field in the appropriate clinical context. This is the first pediatric study in Saudi Arabia to give the experience with EE and examine its symptom, histology and endoscopy results. Materials and Methods: Retrospective chart review of all patients diagnosed with EE at National Guard Hospital, Jeddah Between 2007 and 2009. The authors identified EE on histologic criteria (≥15 eosinophils per high-power field) together with their clinical context. The authors reviewed medical records for details of clinical presentation, laboratory data, radiologic, endoscopic, and histologic findings, and the results of treatment. Results: We identified 15 patients in our database in the last three years. 100% of the patients were males. The median age at presentation was 10 years (range, 3-17 years). The commonly reported symptoms were failure to thrive (86%), epigastric abdominal pain (53%), poor eating (40%), dysphagia with solid food (26%), food impaction (13%), and vomiting (20%). Asthma was reported in 46% and allergic rhinitis in 40%. Peripheral eosinophilia (>0.7 × 10/l) was found in 66%. High serum IgE Level (>60 IU/ml) was found in 60%. Upper endoscopic analysis revealed esophageal trachealization in 46%, esophageal erythema in 46%, white specks on the esophageal mucosa in 33%, esophageal narrowing in 13%, and normal endoscopy in 13%. The mean eosinophils per high-power field was 30.4 (range, 20-71). Histologic characteristics included degranulated eosinophils (86%), basal cell hyperplasia (93%) and eosinophils clusters (micro-abscess) in 73%. The treatment of EE revealed that they used swallowed corticosteroid in 50%, proton pump inhibitors in 66%, elemental diet/ food elimination in 13% and systemic corticosteroid in 13%. Conclusions: Failure to thrive and abdominal pain in a male, atopic school-aged child was the most common feature of EE. Peripheral eosinophilia, high serum IgE and endoscopic esophageal erythema and trachealization should significantly raise the clinical index of suspicion for the diagnosis of EE.

Annals of Human Biology, 2013

Helicobacter pylori infection is very common worldwide. To evaluate the prevalence and identify t... more Helicobacter pylori infection is very common worldwide. To evaluate the prevalence and identify the risk factors for Helicobacter pylori infection in Chinese maritime workers. Between March 2010 and October 2010, 3995 subjects were selected in the Hospital of Dalian Port. The presence of Helicobacter pylori infection was confirmed using laboratory tests (serum IgG anti-Helicobacter pylori antibodies) and background information, family history, lifestyle and eating habits were collected using questionnaires. The prevalence of Helicobacter pylori infection was 44.9% in these Chinese maritime workers. Prevalence of Helicobacter pylori infection was associated with family income, living space, family history of gastrointestinal diseases, smoking, drinking tea, raw vegetables consumption, spicy food, pickle food, dining outside, no regular meal and dish sharing. Further analysis with multivariate logistic regression analysis indicated that raw vegetables consumption, pickle food consumption, family income and family history of gastrointestinal diseases were independent predictors for Helicobacter pylori infection. No association was found between infection and gender, marital status, education, alcohol consumption and tap water consumption. Helicobacter pylori infection is associated with raw vegetables consumption, pickle food consumption, family income and family history of gastrointestinal disease among Chinese maritime workers.

Cureus

Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recess... more Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has also been expanded to include metabolism and endocrine systems. Despite its function as a tumor suppressor gene, genetic alterations in WWOX have been found in several metabolic disorders and neural diseases related to brain development. Whole-exome sequencing (WES) was performed on the patient sample. Genomic DNA was fragmented, and the exons of known genes in the human genome, as well as the corresponding exonintron boundaries, were enriched using Roche KAPA capture technology (KAPA hyperExome Library, WES identifying the homozygous variant c.406A>G in WWOX (OMIM:605131). This variant of WWOX was also observed in the prenatal WES data, indicating that both parents were heterozygous carriers and the detected variant was homozygous. This study highlighted the importance of the human WWOX gene in brain development and the association between WWOX gene mutations and developmental delay. We recommend performing WES as a primary screening before the final diagnosis, particularly in populations with high rates of consanguinity and in clinically challenging cases.

Saudi Medical Journal, 2010

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrh... more Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.

Saudi Medical Journal, 2013

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 2017

Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 ... more Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome sequencing. Our case provides a new insight toward considering NBAS mutation as a part of the differential diagnoses of any infant presenting with recurrent liver failure or hepatitis. We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction.

Saudi medical journal, 2013

Saudi medical journal, 2010

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrh... more Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.

The Egyptian Journal of Internal Medicine

Background Percutaneous liver biopsy is one of the widely accepted procedures to find any disorde... more Background Percutaneous liver biopsy is one of the widely accepted procedures to find any disorder, infection, and disease. Understanding the correlation between biopsy factors and adequacy rate will improvize efficacy and safety of biopsy. Objectives This study was carried out to find the effect of needle size on the adequacy rate of biopsy and also to establish the association of factors such as BMI, cumulative length, and the number of cores to adequacy rate of biopsy. Materials and methods This retrospective review study was carried out at King Abdul-Aziz Medical City, MNGHA, Jeddah, Saudi Arabia. The data were acquired on adult patients who underwent percutaneous liver biopsy for 2010-2016 time periods. The data were analyzed by using the statistical package for social sciences, version 23. Results No significant difference was observed in the adequacy rate of biopsy among samples of different needles (P=0.998). Similarly, BMI and guidance did not significantly (P=0.860 and 0.873) affect the adequacy rate. However, the number of cores (P<0.001) and cumulative length (P<0.001) had a significant effect on adequacy rate. Finally, only cumulative length (2.4 cm) was significantly correlated (P<0.05) to the adequacy rate of Percutaneous liver biopsy (PLB). Conclusion The adequacy rate significantly depends on cumulative length and the number of cores. However, further studies are required to establish a conclusive relationship between factors and adequacy rate.

Saudi medical journal, 2010

Notice: Authors are encouraged to submit quizzes for possible publication in the Journal. These m... more Notice: Authors are encouraged to submit quizzes for possible publication in the Journal. These may be in any specialty, and should approximately follow the format used here (maximum of 2 figures). Please address any submissions to: Editor, Saudi Medical Journal, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia. Tel. +966 (1) 4777714 Ext. 6570. Fax. +966 (1) 4761810 or 4777194.

International Journal of Medicine in Developing Countries