Abdullah Al-Sonbul - Academia.edu (original) (raw)

Papers by Abdullah Al-Sonbul

Pediatric Rheumatology, 2015

Capital Humano Revista Para La Integracion Y Desarrollo De Los Recursos Humanos, 1998

Archives of pediatrics, 2018

Henoch-Schönlein Purpura (HSP) is a systemic vasculitis that commonly involves the kidneys. Strep... more Henoch-Schönlein Purpura (HSP) is a systemic vasculitis that commonly involves the kidneys. Streptococcal infection might cause typical acute post-infectious glomerulonephritis and could induce abnormal IgA immune response similar to HSP. Both HSP and Post-Streptococcal Glomerulonephritis (PSGN) histological examination reveal a broad spectrum of renal pathologies including necrotizing glomerulonephritis. Coexisting diseases might result in severe nephritis as shown in our case. We describe the case of a seven-year-old boy who developed purpuric rash, abdominal pain and arthralgia typical for HSP following a confirmed streptococcal infection. Shortly after presentation, he developed acute renal failure requiring referral for dialysis. Renal biopsy showed full-blown immune complex-mediated necrotizing glomerulonephritis. He had dramatic improvement and full recovery after steroids and cyclophosphamide treatment. Introduction Henoch-Schönlein Purpura (HSP) is clinically characterized ...

International Journal For Quality In Health Care, 2019

Objective To improve the number of patients receiving annual computed tomography (CT) scan and tu... more Objective To improve the number of patients receiving annual computed tomography (CT) scan and tumour markers, who are diagnosed with low-grade mucinous neoplasms (LAMN). Design A pre-/post-intervention design was employed using Lean Six Sigma methods to identify gaps in the screening system and to develop and implement solutions for a more robust, auditable screening programme. Setting The patients diagnosed with LAMN of the appendix referred to the acute hospital and are enrolled in the screening service. Participants Consultant colorectal surgeons, cancer nurse specialist, colorectal medical team and quality improvement staff. Interventions Diagnostic tools identified gaps in the current process. A set of improvements were implemented to standardize the pathway for referral and surveillance of patients, provide information on the condition and treatment and standardize and track information received by patients and their referring hospital. Main Outcome Measure(s) Pre and post-in...

Annals of the rheumatic diseases, Jan 22, 2018

To characterise the clinical features, immune manifestations and molecular mechanisms in a recent... more To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype. We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD). Genetic studies included whole exome sequencing (WES) and candidate gene screening. Patients' primary cells were used for deep RNA and tRNA sequencing, cytokine profiling, immunophenotyping, immunoblotting and electron microscopy (EM). We identified eight mutations in these nine patients, three of which have not been previously associated with SIFD. Three patients died in early childhood. Inflammatory cytokines, mainly interleukin (IL)-6, interferon gamma (IFN-γ) and IFN-induced cytokines were elevated in the serum, whereas tumour ne...

Annals of Saudi Medicine, 2006

International Journal of Pediatrics and Adolescent Medicine, 2015

Indian Journal of Rheumatology, 2007

Southern Medical Journal, 2007

Nature Genetics, 2011

Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbid... more Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.

Chinese Journal of Geochemistry, 2010

Cobalt phthalocyanine (CoPc) films were deposited on the surface of a screen-printed carbon elect... more Cobalt phthalocyanine (CoPc) films were deposited on the surface of a screen-printed carbon electrode using a simple drop coating method. The cyclic voltammogram of the resulting CoPc modified screen-printed electrode (CoPc/SPE) prepared under optimum conditions shows a well-behaved redox couple due to the (Co I /Co II) system. The CoPc/SPE surface demonstrates excellent electrochemical activity towards the oxidation of sulfur in a 0.01 mol• L −1 NaOH. A linear calibration curve with the detection limit (D L , S/N = 3) of 0.325 mg• L −1 was achieved by CoPc/SPE coupled with flow injection analysis of the sulfur concentration ranging from 4 to 1120 mg• L −1. The precision of the system response was evaluated (3.60% and 3.52% RSD for 12 repeated injections), in the range of 64 and 480 mg• L −1 sulfur. The applicability of the method was successfully demonstrated in a real sample analysis of sulfur in anti-acne creams, and good recovery was obtained. The CoPc/SPE displayed several advantages in sulfur determination including easy fabrication, high stability, and low cost.

Brain and Development, 1998

The clinical, PET (positron emission tomography) and MRI (magnetic resonance imaging) findings of... more The clinical, PET (positron emission tomography) and MRI (magnetic resonance imaging) findings of brain studies in eight patients, previously diagnosed to have glutaric aciduria type 1, were retrospectively reviewed. The neurological findings typically consisted of variable degrees of dementia and extrapyramidal symptoms (dystonia, choreoathetosis and rigidity). Both MRI and PET showed involvement of the putamina in all the patients. The PET scan demonstrated lesions in the head of the caudate nuclei in all of the patients. Brain atrophy, and in particular the characteristically-enlarged Sylvian fissures, was better demonstrated by MRI. On the other hand, the cerebral cortex and thalamic structures were found to be normal by MRI in all patients, whereas PET scan showed decreased uptake in the cerebral cortex in seven, and in the thalami in three patients. Correlation between imaging and clinical findings was found to be good when both PET scan and MRI findings of the brain were taken into consideration. Therefore, the functional (PET) and structural (MRI) studies of the brain were complementary in the imaging evaluation of glutaric aciduria type 1.

Clinical Rheumatology, 2008

The objective of our study was to determine the influence of gender and age of onset on the outco... more The objective of our study was to determine the influence of gender and age of onset on the outcome in Saudi children with systemic lupus erythematosus (SLE). Medical records of children with SLE treated at King Faisal Specialist Hospital and Research Center were reviewed. Outcome measures included Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index score (SLICC/ACR), renal disease requiring dialysis, or transplant and death related to SLE. Patients were classified based on age at disease onset into early onset (<5 years) and late onset (>5 years). Data were analyzed, and comparison was made according to the gender and age groups. Eighty-nine patients (76 female and 13 male) were included. The median disease duration was 5 years. Twelve patients had early-onset disease. There was no difference in the mean age, age at diagnosis, disease duration, and follow-up between the different groups. Logistic regression analysis showed significant association of high SLICC/ACR score with early-onset disease and male gender, while renal disease requiring dialysis and renal transplant was associated significantly with male gender independently of age of disease onset. In contrast, death related to SLE was influenced by early-onset disease. Male children and early onset disease of this cohort had poorer outcome. This finding indicates that gender and early-onset disease influence the long-term outcome of SLE in children.

Annals of Saudi Medicine, 2012

Background and objective: Published data from Saudi Arabia regarding autoinflammatory diseases ar... more Background and objective: Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children. Design and setting: Restrospective, hospital-based study conducted from January 2010 until June 2010. Patients and methods: Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever (FMF); chronic recurrent multifocal osteomyelitis (CRMO); early-onset sarcoidosis (EOS); periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA); chronic infantile neurologic cutaneous and articular syndrome (CINCA); and Muckle-Wells syndrome (MWS). Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients' usual medical care. Results: Thirty-four patients (females, 53%) with autoinflammatory diseases were included (mean age, 151 months). Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra. Conclusion: Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management.

Lupus, 2006

The object of this study was to compare patients with familial versus sporadic systemic lupus ery... more The object of this study was to compare patients with familial versus sporadic systemic lupus erythematosus (SLE) with respect to clinical, laboratory variables and outcome. The familial SLE group comprised 12 patients while the comparative group comprised 24 patients selected by systemic sampling from our pediatric rheumatology clinic database. Those patients are listed according to the date of referral, which represents a sampling frame. The first patient was chosen randomly and subsequent patients were chosen at intervals of three. The two groups were compared with respect to: demographic information, age of onset of SLE, disease and follow up duration, clinical and laboratory variables and outcome. The patients from the familial group were younger and had an earlier age of onset of disease (P ϭ 0.03, 0.001 respectively). Seven patients with familial SLE were from the eastern region of Saudi Arabia (P ϭ 0.006). The two groups were comparable with respect to gender, disease duration and follow-up. At diagnosis, the discoid rash was more frequent in the familial group (P ϭ 0.03) while other clinical and laboratory variables including disease activity as measured by SLEDAI did not show significant differences. The mean dose of steroid and use of other immunosuppressive therapy were similar in both groups. Three patients from the familial group died; two of them had unusual complications (one patient had transverse myelitis and pancreatic pesudocyst and the other one had extensive pyoderma gangerunosum). All patients from the sporadic group are alive in stable condition but one patient had severe central nervous system disease. Familial SLE patients tend to be younger and more likely to have discoid rash, in addition a marked difference in the origin of patients was noted. These differences may be helpful in identifying SLE patients with a stronger genetic predisposition. The mortality among familial SLE patients is more frequent which may reflect the disease severity. Lupus (2006) 15, 616-618.

Annals of Saudi Medicine, 2006

S arcoidosis is an idiopathic granulomatous disease, most commonly affecting young adults and pre... more S arcoidosis is an idiopathic granulomatous disease, most commonly affecting young adults and presenting with bilateral hilar lymphadenopathy and pulmonary infiltrates. 1 in children it is relatively rare and its clinical spectrum varies according to the age of onset. 1-2 it is more common during adolescence and usually presents with clinical features similar to the adult type. in children under the age of 4 years it is rare and has a different presentation. Clinical features are characterized by a triad of rash, uveitis, and arthritis. 3 Sarcoidosis has a worldwide distribution, but is more frequently reported from developed countries. 4,5 to our knowledge, there are no reports of childhood sarcoidosis from Saudi Arabia. We describe the clinical and laboratory features, treatment and outcome of 8 children with sarcoidosis seen at our hospital. Methods We retrospectively reviewed data of children with sarcoidosis seen at King faisal Specialist Hospital and research Center (KfSHrC), riyadh. KfSHrC is the major tertiary care center in Saudi Arabia for most sub-specialties including pediatric rheumatology. Data included demographics, clinical presentation, laboratory parameters, radiological and histopathological features, treatment, disease course, and outcome of these patients.

Pediatric Rheumatology, 2015

Capital Humano Revista Para La Integracion Y Desarrollo De Los Recursos Humanos, 1998

Archives of pediatrics, 2018

Henoch-Schönlein Purpura (HSP) is a systemic vasculitis that commonly involves the kidneys. Strep... more Henoch-Schönlein Purpura (HSP) is a systemic vasculitis that commonly involves the kidneys. Streptococcal infection might cause typical acute post-infectious glomerulonephritis and could induce abnormal IgA immune response similar to HSP. Both HSP and Post-Streptococcal Glomerulonephritis (PSGN) histological examination reveal a broad spectrum of renal pathologies including necrotizing glomerulonephritis. Coexisting diseases might result in severe nephritis as shown in our case. We describe the case of a seven-year-old boy who developed purpuric rash, abdominal pain and arthralgia typical for HSP following a confirmed streptococcal infection. Shortly after presentation, he developed acute renal failure requiring referral for dialysis. Renal biopsy showed full-blown immune complex-mediated necrotizing glomerulonephritis. He had dramatic improvement and full recovery after steroids and cyclophosphamide treatment. Introduction Henoch-Schönlein Purpura (HSP) is clinically characterized ...

International Journal For Quality In Health Care, 2019

Objective To improve the number of patients receiving annual computed tomography (CT) scan and tu... more Objective To improve the number of patients receiving annual computed tomography (CT) scan and tumour markers, who are diagnosed with low-grade mucinous neoplasms (LAMN). Design A pre-/post-intervention design was employed using Lean Six Sigma methods to identify gaps in the screening system and to develop and implement solutions for a more robust, auditable screening programme. Setting The patients diagnosed with LAMN of the appendix referred to the acute hospital and are enrolled in the screening service. Participants Consultant colorectal surgeons, cancer nurse specialist, colorectal medical team and quality improvement staff. Interventions Diagnostic tools identified gaps in the current process. A set of improvements were implemented to standardize the pathway for referral and surveillance of patients, provide information on the condition and treatment and standardize and track information received by patients and their referring hospital. Main Outcome Measure(s) Pre and post-in...

Annals of the rheumatic diseases, Jan 22, 2018

To characterise the clinical features, immune manifestations and molecular mechanisms in a recent... more To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype. We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD). Genetic studies included whole exome sequencing (WES) and candidate gene screening. Patients' primary cells were used for deep RNA and tRNA sequencing, cytokine profiling, immunophenotyping, immunoblotting and electron microscopy (EM). We identified eight mutations in these nine patients, three of which have not been previously associated with SIFD. Three patients died in early childhood. Inflammatory cytokines, mainly interleukin (IL)-6, interferon gamma (IFN-γ) and IFN-induced cytokines were elevated in the serum, whereas tumour ne...

Annals of Saudi Medicine, 2006

International Journal of Pediatrics and Adolescent Medicine, 2015

Indian Journal of Rheumatology, 2007

Southern Medical Journal, 2007

Nature Genetics, 2011

Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbid... more Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.

Chinese Journal of Geochemistry, 2010

Cobalt phthalocyanine (CoPc) films were deposited on the surface of a screen-printed carbon elect... more Cobalt phthalocyanine (CoPc) films were deposited on the surface of a screen-printed carbon electrode using a simple drop coating method. The cyclic voltammogram of the resulting CoPc modified screen-printed electrode (CoPc/SPE) prepared under optimum conditions shows a well-behaved redox couple due to the (Co I /Co II) system. The CoPc/SPE surface demonstrates excellent electrochemical activity towards the oxidation of sulfur in a 0.01 mol• L −1 NaOH. A linear calibration curve with the detection limit (D L , S/N = 3) of 0.325 mg• L −1 was achieved by CoPc/SPE coupled with flow injection analysis of the sulfur concentration ranging from 4 to 1120 mg• L −1. The precision of the system response was evaluated (3.60% and 3.52% RSD for 12 repeated injections), in the range of 64 and 480 mg• L −1 sulfur. The applicability of the method was successfully demonstrated in a real sample analysis of sulfur in anti-acne creams, and good recovery was obtained. The CoPc/SPE displayed several advantages in sulfur determination including easy fabrication, high stability, and low cost.

Brain and Development, 1998

The clinical, PET (positron emission tomography) and MRI (magnetic resonance imaging) findings of... more The clinical, PET (positron emission tomography) and MRI (magnetic resonance imaging) findings of brain studies in eight patients, previously diagnosed to have glutaric aciduria type 1, were retrospectively reviewed. The neurological findings typically consisted of variable degrees of dementia and extrapyramidal symptoms (dystonia, choreoathetosis and rigidity). Both MRI and PET showed involvement of the putamina in all the patients. The PET scan demonstrated lesions in the head of the caudate nuclei in all of the patients. Brain atrophy, and in particular the characteristically-enlarged Sylvian fissures, was better demonstrated by MRI. On the other hand, the cerebral cortex and thalamic structures were found to be normal by MRI in all patients, whereas PET scan showed decreased uptake in the cerebral cortex in seven, and in the thalami in three patients. Correlation between imaging and clinical findings was found to be good when both PET scan and MRI findings of the brain were taken into consideration. Therefore, the functional (PET) and structural (MRI) studies of the brain were complementary in the imaging evaluation of glutaric aciduria type 1.

Clinical Rheumatology, 2008

The objective of our study was to determine the influence of gender and age of onset on the outco... more The objective of our study was to determine the influence of gender and age of onset on the outcome in Saudi children with systemic lupus erythematosus (SLE). Medical records of children with SLE treated at King Faisal Specialist Hospital and Research Center were reviewed. Outcome measures included Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index score (SLICC/ACR), renal disease requiring dialysis, or transplant and death related to SLE. Patients were classified based on age at disease onset into early onset (<5 years) and late onset (>5 years). Data were analyzed, and comparison was made according to the gender and age groups. Eighty-nine patients (76 female and 13 male) were included. The median disease duration was 5 years. Twelve patients had early-onset disease. There was no difference in the mean age, age at diagnosis, disease duration, and follow-up between the different groups. Logistic regression analysis showed significant association of high SLICC/ACR score with early-onset disease and male gender, while renal disease requiring dialysis and renal transplant was associated significantly with male gender independently of age of disease onset. In contrast, death related to SLE was influenced by early-onset disease. Male children and early onset disease of this cohort had poorer outcome. This finding indicates that gender and early-onset disease influence the long-term outcome of SLE in children.

Annals of Saudi Medicine, 2012

Background and objective: Published data from Saudi Arabia regarding autoinflammatory diseases ar... more Background and objective: Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children. Design and setting: Restrospective, hospital-based study conducted from January 2010 until June 2010. Patients and methods: Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever (FMF); chronic recurrent multifocal osteomyelitis (CRMO); early-onset sarcoidosis (EOS); periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA); chronic infantile neurologic cutaneous and articular syndrome (CINCA); and Muckle-Wells syndrome (MWS). Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients' usual medical care. Results: Thirty-four patients (females, 53%) with autoinflammatory diseases were included (mean age, 151 months). Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra. Conclusion: Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management.

Lupus, 2006

The object of this study was to compare patients with familial versus sporadic systemic lupus ery... more The object of this study was to compare patients with familial versus sporadic systemic lupus erythematosus (SLE) with respect to clinical, laboratory variables and outcome. The familial SLE group comprised 12 patients while the comparative group comprised 24 patients selected by systemic sampling from our pediatric rheumatology clinic database. Those patients are listed according to the date of referral, which represents a sampling frame. The first patient was chosen randomly and subsequent patients were chosen at intervals of three. The two groups were compared with respect to: demographic information, age of onset of SLE, disease and follow up duration, clinical and laboratory variables and outcome. The patients from the familial group were younger and had an earlier age of onset of disease (P ϭ 0.03, 0.001 respectively). Seven patients with familial SLE were from the eastern region of Saudi Arabia (P ϭ 0.006). The two groups were comparable with respect to gender, disease duration and follow-up. At diagnosis, the discoid rash was more frequent in the familial group (P ϭ 0.03) while other clinical and laboratory variables including disease activity as measured by SLEDAI did not show significant differences. The mean dose of steroid and use of other immunosuppressive therapy were similar in both groups. Three patients from the familial group died; two of them had unusual complications (one patient had transverse myelitis and pancreatic pesudocyst and the other one had extensive pyoderma gangerunosum). All patients from the sporadic group are alive in stable condition but one patient had severe central nervous system disease. Familial SLE patients tend to be younger and more likely to have discoid rash, in addition a marked difference in the origin of patients was noted. These differences may be helpful in identifying SLE patients with a stronger genetic predisposition. The mortality among familial SLE patients is more frequent which may reflect the disease severity. Lupus (2006) 15, 616-618.

Annals of Saudi Medicine, 2006

S arcoidosis is an idiopathic granulomatous disease, most commonly affecting young adults and pre... more S arcoidosis is an idiopathic granulomatous disease, most commonly affecting young adults and presenting with bilateral hilar lymphadenopathy and pulmonary infiltrates. 1 in children it is relatively rare and its clinical spectrum varies according to the age of onset. 1-2 it is more common during adolescence and usually presents with clinical features similar to the adult type. in children under the age of 4 years it is rare and has a different presentation. Clinical features are characterized by a triad of rash, uveitis, and arthritis. 3 Sarcoidosis has a worldwide distribution, but is more frequently reported from developed countries. 4,5 to our knowledge, there are no reports of childhood sarcoidosis from Saudi Arabia. We describe the clinical and laboratory features, treatment and outcome of 8 children with sarcoidosis seen at our hospital. Methods We retrospectively reviewed data of children with sarcoidosis seen at King faisal Specialist Hospital and research Center (KfSHrC), riyadh. KfSHrC is the major tertiary care center in Saudi Arabia for most sub-specialties including pediatric rheumatology. Data included demographics, clinical presentation, laboratory parameters, radiological and histopathological features, treatment, disease course, and outcome of these patients.