A5055382608- Endoplasmic Reticulum Stress and Disease
- Glioma Diagnosis and Treatment
- Genetic and Kidney Cyst Diseases
- Eosinophilic Esophagitis
- Inflammatory Bowel Disease
- Folate and B Vitamins Research
- Renal cell carcinoma treatment
- Lysosomal Storage Disorders Research
- Neurological and metabolic disorders
- Chromatin Remodeling and Cancer
- Neurogenetic and Muscular Disorders Research
- COVID-19 Clinical Research Studies
- Autophagy in Disease and Therapy
- Soft tissue tumor case studies
- Retinoids in leukemia and cellular processes
- Amoebic Infections and Treatments
- Spinal Fractures and Fixation Techniques
- Vascular Malformations and Hemangiomas
- Infectious Encephalopathies and Encephalitis
- Long-Term Effects of COVID-19
- Growth Hormone and Insulin-like Growth Factors
- Traumatic Brain Injury and Neurovascular Disturbances
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
National Guard Health Affairs
2018-2024
King Abdulaziz Medical City
2014-2024
King Saud bin Abdulaziz University for Health Sciences
2018-2024
Princess Nourah bint Abdulrahman University
2024
King Abdullah International Medical Research Center
2018-2024
King Abdullah Medical City
2020
King Saud University
2020
Purpose: The aim of this manuscript was to assess the epidemiology and clinical features Neurofibromatosis type 1 (NF-1) based on newly published revised NF-1 diagnostic criteria evaluate complications including neurodevelopmental disorders. Patients methods: A retrospective cross-sectional observational study conducted in Ministry National Guard Health Affairs (MNGHA) healthcare organization branches four tertiary hospitals 51 primary health care centers different regions Saudi Arabia. This...
Congenital disorders of glycosylation (CDG) are a group more than 100 rare genetic characterized by impaired proteins and lipids. The clinical presentation CDG varies tremendously, from single-organ to multi-organ involvement prenatal death normal adult phenotype. In this case study, we report large consanguineous family with multiple children suffering cerebral palsy, seizure, developmental epileptic encephalopathy, global delay. Whole-exome sequencing (WES) analysis revealed homozygous...
Extraneural metastases of ependymoma are very rare, and have been reported in the lungs, lymph nodes, pleura, mediastinum, liver, diaphragmatic muscle, bone. We describe radiological findings pathologically proven lung from an anaplastic ependymoma. The tumor which arose posterior fossa was first diagnosed 2007 when surgical resection performed outside our institute. Multiple operations were after that due to relapse. nodules discovered incidentally during a VP shunt survey. Biopsy displayed...
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics. Radiologist knowledge unique radiological features this entity helps patient's safety in terms management. We study case 27-month-old boy presented to emergency department with upper respiratory tract infection. He had high blood pressure been diagnosed earlier autosomal recessive polycystic kidney disease based on renal ultrasound...
Abstract Primary microcephaly (PM) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci identified to date. We report consanguineous family PM, intellectual disability short stature. Using whole exome sequencing, we homozygous frameshift variant in programmed cell death 6 interacting protein ( PDCD6IP , c.154_158dup; p.Val54Profs*18). This gene, plays an important role the endosomal sorting complexes required for transport (ESCRT) pathway...
Abstract Wiedemann‐Rautenstrauch Syndrome (WRS; MIM 264090) is an extremely rare and highly heterogeneous syndrome that inherited in a recessive fashion. The patients have hallmark features such as prenatal postnatal growth retardation, short stature, progeroid appearance, hypotonia, facial dysmorphology, hypomyelination leukodystrophy, mental impairment. Biallelic disease‐causing variants the RNA polymerase III subunit A ( POLR3A ) been associated with WRS. Here, we report first identified...
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a in formylglycine-generating enzyme, which encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. Clinically, variable. The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. Herein, we report 6 Saudi patients with multiple caused novel homozygous missense mutation SUMF1 gene (NM_182760.3; c.785A>G...
Neural tube defects (NTDs) are among the most common birth in humans and yet their molecular etiology remains poorly understood. NTDs believed to result from complex interaction of environmental factors with a multitude genetic risk classical multifactorial disease model. Mendelian forms which single variants sufficient cause extremely rare. We report monozygotic twin severe (occipital encephalocele myelomeningocele) shared de novo, likely truncating, variant SMARCC1 . RTPCR analysis...
Inflammatory bowel diseases (IBDs) are idiopathic autoimmune that characterized by inflammation of both the small and large intestine. Although IBD is common in general population, pathophysiology remains ambiguous. Clear understanding would be a major step toward curative treatment future. Hyperhomocysteinemia has been associated with multiple including IBD, but homocystinuria not before. We report 9-year-old girl Crohn's disease homocystinuria. Her gastrointestinal symptoms improved...
A five days old, full term baby boy transferred to our institution from private hospital diagnosed with hypertension and renal failure.The had no proper antenatal follow up.He was born at 39 weeks of gestation uncomplicated, normal spontaneous vaginal delivery.The patient abnormal Apgar score 5 7 in 1min min respectively.There is history or risk hypoxia recorded.The found have dysmorphic features including hypertelorism, depressed nasal bridge low-set ears.The hypotonic seizure the second...
Inflammatory bowel diseases (IBDs) are idiopathic autoimmune that characterized by inflammation of both the small and large intestine. Although IBD is common in general population, pathophysiology remains ambiguous. Clear understanding would be a major step toward curative treatment future. Hyperhomocysteinemia has been associated with multiple including IBD, but homocystinuria not before. We report 9-year-old girl Crohn's disease homocystinuria. Her gastrointestinal symptoms improved...
<h3>Objectives:</h3> To determine the prevalence of tuberous sclerosis complex (TSC) in paediatric Saudi population and to characterise range clinical symptoms, neurocutaneous findings, neuroimaging results, complications disease. <h3>Methods:</h3> A total 61 genetically confirmed TSC patients from National Guard Health Affairs (NGHA) Arabia were subject this retrospective descriptive analysis. The data presented using measures. <h3>Results:</h3> mean age at diagnosis was found be 4.9 years....
Segmental spinal dysgenesis (SSD) is a complex anomaly characterized by localized of the lumbar or thoracolumbar spine, and severe congenital kyphosis kyphoscoliosis. We describe newborn who presented with paraplegia mass. Magnetic resonance imaging confirmed SSD type II associated open dysraphism intracranial Chiari features; this association has not been reported. The modifies disease management outcome. previous classification could be revisited based on our case.
Renal cysts in pediatric patients are uncommon lesion. A modified Bosniak classification system for renal based on US has been developed to evaluate identify the simple cyst or cystic tumour. Nevertheless, it is not widely used. In this retrospective study, all incidentally detected by ultrasound performed children and reproducibility of guide radiological clinical follow up.
1. Case presentation A five-year-old previously healthy girl presented to the emergency department with a non-productive cough, fever, and vomiting for two days. She had no other symptoms apart from few episodes of diarrhea, mild abdominal pain, definite COVID- 19-exposure history. Leukocyte lymphocyte counts were normal; CRP level was increased (100 mg/L). Blood coagulation serum ferritin (291–616 μg/ml) levels increased. chest X-ray showed consolidation in right lower lobe middle partially...
We report on a rare association of WNT-activated medulloblastoma with metastasis to the suprasellar region. Medulloblastoma is commonest brain tumor in children, and most common pattern metastatic disease that leptomeningeal involvement spinal metastasis. Historically, patients were categorized into different risk groups basis age, histology, size residium after surgery, status, but discovery at least 4 molecular subgroups has changed way these tumors are now treated. 6-year-old patient who...
Neuroepithelial tumors, formerly known as primitive neuroectodermal tumors of the central nervous system, are reclassified under embryonal in 2016 WHO Classification Tumors Central Nervous System. The tumor has two genetic alterations: HGNET-MN1 and HGNET-BCOR. Previously, radiological features have been reported large, intra-axial lesions cerebral or cerebellar hemisphere, which presents mild adjacent edema. Here, we report first case high-grade neuroepithelial not elsewhere classified...
Inflammatory bowel diseases (IBDs) are idiopathic autoimmune that characterized by inflammation of both the small and large intestine. Although IBD is common in general population, pathophysiology remains ambiguous. Clear understanding would be a major step toward curative treatment future. Hyperhomocysteinemia has been associated with multiple including IBD, but homocystinuria not before. We report 9-year-old girl Crohn's disease homocystinuria. Her gastrointestinal symptoms improved...