Search Results - "Al Harbi, Talal"
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Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients
Published in British journal of haematology (01-09-2021)“…Summary Familial thrombocytosis (FT) is a rare hereditary haematological disorder characterised by increased platelet count, usually caused by germ‐line…”
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Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene
Published in American journal of medical genetics. Part A (01-02-2022)“…We report a 38‐year‐old Saudi male with Ehlers–Danlos Syndrome (EDS). The patient presented with rare and unusual neurological manifestations, including but…”
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3
Confirmed disability progression as a marker of permanent disability in multiple sclerosis
Published in European journal of neurology (01-08-2022)“…Background and purpose The prevention of disability over the long term is the main treatment goal in multiple sclerosis (MS); however, randomized clinical…”
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Fulminant Guillain–Barré Syndrome Post Hemorrhagic Stroke: Two Case Reports
Published in Neurology international (01-06-2021)“…Guillain–Barré syndrome (GBS) is an acute, immune-mediated inflammatory peripheral polyneuropathy characterized by ascending paralysis. Most GBS cases follow…”
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5
Neurobiology of Amphetamine use in Stroke Recovery Combined with Rehabilitative Training and Brain Stimulation
Published in CNS & neurological disorders drug targets (01-01-2023)“…Stroke is a physiological disorder involving a prolonged local interruption of cerebral blood flow. It leads to massive neuronal death and causes short-term or…”
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Clinical features and outcome of Guillain–Barre syndrome in Saudi Arabia: a multicenter, retrospective study
Published in BMC neurology (12-07-2021)“…Abstract Background Guillain–Barre syndrome (GBS) is an inflammatory polyradiculoneuropathy characterized by rapidly evolving weakness and areflexia, reaching…”
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Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial
Published in Journal of neurology, neurosurgery and psychiatry (01-12-2023)“…BackgroundSimultaneous comparisons of multiple disease-modifying therapies for relapsing-remitting multiple sclerosis (RRMS) over an extended follow-up are…”
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Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis
Published in Platelets (Edinburgh) (17-11-2022)“…The P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs. The…”
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9
Air Pollution and Its Adverse Effects on the Central Nervous System
Published in Curēus (Palo Alto, CA) (12-05-2023)“…Air pollution is recognized as a significant public health problem and is associated with illnesses of the central nervous system (CNS) as well as…”
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10
Colchicine-Induced Acute Myopathy: Case Study From Saudi Arabia
Published in Curēus (Palo Alto, CA) (09-12-2021)“…Colchicine-induced myopathy has been described in patients with chronic renal failure and patients who are using a concomitant drug like a statin. However,…”
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Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family
Published in Journal of clinical neuromuscular disease (01-09-2019)“…ABSTRACTHereditary axonal motor and sensory neuropathy or Charcot–Marie–Tooth type 2 (CMT2) is a common inherited peripheral neuropathy. Major symptomatologic…”
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The impact of COVID-19 infection on multiple sclerosis disease course across 12 countries: a propensity-score-matched cohort study
Published in Therapeutic advances in neurological disorders (01-01-2024)“…Background: The relationship between coronavirus disease 2019 (COVID-19) infection and multiple sclerosis (MS) relapse and disease progression remains unclear…”
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13
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
Published in Journal of inherited metabolic disease (01-11-2013)“…Purpose Transaldolase deficiency is a recently described inborn error of pentose phosphate pathway. We conducted this study to further delineate the associated…”
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Perioperative control of paroxysmal hypertension using esmolol with alpha-blockade in a child with a germline mutated paraganglioma
Published in Endocrinology, diabetes & metabolism case reports (19-07-2021)“…Summary The use of antihypertensive medications in patients with pheochromocytomas and paragangliomas (PCC/PG) is usually a challenge. We report a case of…”
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Neuromyelitis optica spectrum disorders in Arabian Gulf (NMOAG); establishment and initial characterization of a patient registry
Published in Multiple sclerosis and related disorders (01-02-2020)“…•Two-third of NMOSD in Arabian Gulf were seropositive.•Females were predominant regardless of disease serostatus.•Optic neuritis was founded to the commonest…”
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Clinical characteristics and treatment outcome of childhood acute lymphoblastic leukemia in Saudi Arabia: A multi-institutional retrospective national collaborative study
Published in Pediatric blood & cancer (01-01-2014)“…Background Treatment of childhood acute lymphoblastic leukemia (ALL) has been available in Saudi Arabia (SA) for over 30 years; however, only limited data have…”
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Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb–Girdle Muscular Dystrophy Type 2A
Published in Journal of clinical neuromuscular disease (01-12-2016)“…ABSTRACTMore than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb–girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also…”
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18
Reengineering the Communication Process to Reduce Patient No-Show Rates in Hospital Outpatient Clinics
Published in Global journal on quality and safety in healthcare (Print) (01-02-2019)“…Abstract Background: Patient “no-shows” cause significant concern for healthcare organizations as it affects continuity of care provided to the patient,…”
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A Prospective Multicenter Study for Assessing MusiQoL Validity among Arabic-Speaking MS Patients Treated with Subcutaneous Interferon β-1a
Published in Multiple sclerosis international (02-03-2021)“…Few studies examine health-related quality of life (HRQoL) in Arabic-speaking multiple sclerosis (MS) patients. However, HRQoL tools such as the Short Form-36…”
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Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura
Published in Pediatric blood & cancer (01-09-2013)Get full text
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