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Pyridoxine-induced sensory ataxic ganglionopathy: a case report and literature review.
Malek, E, Doumiati, H, Salameh, JS
Acta neurologica Belgica. 2020;(2):413-414
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Levocarnitine and vitamin B complex for the treatment of pegaspargase-induced hepatotoxicity: A case report and review of the literature.
Blackman, A, Boutin, A, Shimanovsky, A, Baker, WJ, Forcello, N
Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners. 2018;(5):393-397
Abstract
Asparaginase is a chemotherapeutic agent that is commonly used in combination with other medications for the treatment of acute lymphoblastic leukemia. An adverse effect of asparaginase includes hepatotoxicity, which can lead to severe liver failure and death. Several reports have documented successful treatment of asparaginase-induced hepatotoxicity using levocarnitine (l-carnitine) and vitamin B complex. Herein, we report a patient with acute lymphoblastic leukemia that experienced acute liver injury following pegaspargase administration. Our patient was successfully treated with l-carnitine and vitamin B complex for 8 days and achieved recovery of hepatic function. Furthermore, we review the current literature and provide a recommendation on a regimen that can be used as an option for the treatment of asparaginase-induced hepatic injury.
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3.
How I treat anemia in pregnancy: iron, cobalamin, and folate.
Achebe, MM, Gafter-Gvili, A
Blood. 2017;(8):940-949
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Abstract
Anemia of pregnancy, an important risk factor for fetal and maternal morbidity, is considered a global health problem, affecting almost 50% of pregnant women. In this article, diagnosis and management of iron, cobalamin, and folate deficiencies, the most frequent causes of anemia in pregnancy, are discussed. Three clinical cases are considered. Iron deficiency is the most common cause. Laboratory tests defining iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates, and literature addressing the efficacy and safety of IV iron in pregnancy are reviewed. An algorithm is proposed to help clinicians diagnose and treat iron deficiency, recommending oral iron in the first trimester and IV iron later. Association of folate deficiency with neural tube defects and impact of fortification programs are discussed. With increased obesity and bariatric surgery rates, prevalence of cobalamin deficiency in pregnancy is rising. Low maternal cobalamin may be associated with fetal growth retardation, fetal insulin resistance, and excess adiposity. The importance of treating cobalamin deficiency in pregnancy is considered. A case of malarial anemia emphasizes the complex relationship between iron deficiency, iron treatment, and malaria infection in endemic areas; the heightened impact of combined etiologies on anemia severity is highlighted.
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High-dose Parenteral Thiamine in Treatment of Wernicke's Encephalopathy: Case Series and Review of the Literature.
Nishimoto, A, Usery, J, Winton, JC, Twilla, J
In vivo (Athens, Greece). 2017;(1):121-124
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Abstract
BACKGROUND Thiamine deficiency can lead to Wernicke's encephalopathy (WE), an acute and potentially life-threatening neurological disorder. Even though the main treatment modality for WE consists of thiamine replacement, evidence supporting an optimal dosing strategy and duration is unclear. PATIENTS AND METHODS We present a single-center case series of eleven patients that were admitted with possible WE and treated with high-dose parenteral thiamine. RESULTS Patients with suspected WE were treated with ≥500 mg intravenous thiamine for a median of 3 days with 73% of patients (eight out of eleven) displaying symptom resolution or improvement after treatment. No significant correlation between symptom resolution and timing of high-dose thiamine initiation (median=92 h) was identified. In patients whose symptoms resolved compared to those whose symptoms did not, there were no differences in patient variables nor adverse effects related to thiamine treatment. CONCLUSION High-dose thiamine (≥500 mg) appears safe and efficacious for use in patients with suspected WE.
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Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Coughlin, CR, van Karnebeek, CD, Al-Hertani, W, Shuen, AY, Jaggumantri, S, Jack, RM, Gaughan, S, Burns, C, Mirsky, DM, Gallagher, RC, et al
Molecular genetics and metabolism. 2015;(1-2):35-43
Abstract
Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α-aminoadipic semialdehyde dehydrogenase resulting in impaired lysine degradation and subsequent accumulation of α-aminoadipic semialdehyde. Despite adequate seizure control with pyridoxine monotherapy, 75% of individuals with PDE have significant developmental delay and intellectual disability. We describe a new combined therapeutic approach to reduce putative toxic metabolites from impaired lysine metabolism. This approach utilizes pyridoxine, a lysine-restricted diet to limit the substrate that leads to neurotoxic metabolite accumulation and L-arginine to compete for brain lysine influx and liver mitochondrial import. We report the developmental and biochemical outcome of six subjects who were treated with this triple therapy. Triple therapy reduced CSF, plasma, and urine biomarkers associated with neurotoxicity in PDE. The addition of arginine supplementation to children already treated with dietary lysine restriction and pyridoxine further reduced toxic metabolites, and in some subjects appeared to improve neurodevelopmental outcome. Dietary lysine restriction was associated with improved seizure control in one subject, and the addition of arginine supplementation increased the objective motor outcome scale in two twin siblings, illustrating the contribution of each component of this treatment combination. Optimal results were noted in the individual treated with triple therapy early in the course of the disease. Residual disease symptoms could be related to early injury suggested by initial MR imaging prior to initiation of treatment or from severe epilepsy prior to diagnosis. This observational study reports the use of triple therapy, which combines three effective components in this rare condition, and suggests that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE.
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Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
Yang, Z, Yang, X, Wu, Y, Wang, J, Zhang, Y, Xiong, H, Jiang, Y, Qin, J
PloS one. 2014;(3):e92803
Abstract
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed by treatment and examination of the ALDH7A1 mutations. The seizures of the 3 patients were all resistant to multiple anticonvulsants (2 to 7 types). For case 1, onset of seizures was at the age of 2 months. His seizures were well controlled by intravenous pyridoxine for several days at the age of 3 months 20 days and recurred at intervals of 13, 14 and 38 days after pyridoxine withdrawn for 3 times. At the age of 7 months, symptoms of PDE appeared and uninterrupted oral pyridoxine started. For case 2, her seizures occurred at 8 days after birth. After administration of multiple antiepileptic drugs observed ineffective, high-dose pyridoxine continuous therapy was taken at the age of 10 months and the significant treatment effect induced a diagnostic PDE. Seizure onset in case 3 was at the first day of birth. He experienced inadvertently pyridoxine therapy several times (first time at 2 days after birth) and achieved good therapeutic effect, which was confirmed by physicians until 4 months 10 days. The treatment process in our 3 patients suggested that pyridoxine should be early and purposefully used in patients with early onset seizures. ALDH7A1 gene mutation analysis revealed compound heterozygous mutations in each case: heterozygous c.410G>A (p.G137E) and IVS11+1G>A in case 1, heterozygous c.952G>C (p.A318P) and heterozygous c.965C>T (p.A322V) in case 2, and heterozygous c.902A>T (p.N301I) and IVS11+1G>A in case 3. Only p.N301I was reported previously, all other mutations were novel. This is the first time to report cases of Chinese patients diagnosed with PDE by molecular genetic analysis.
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Altered and unstable: wet beriberi, a clinical review.
Chisolm-Straker, M, Cherkas, D
The Journal of emergency medicine. 2013;(3):341-4
Abstract
BACKGROUND Undifferentiated altered mental status and hemodynamic instability are common presenting complaints in the Emergency Department (ED). Emergency practitioners do not have the luxury of time to perform sequential examination, history, testing, diagnosis, and treatment. Rather, we do all of these things at once to save lives and decrease morbidity. An important diagnosis to consider and upon which we can easily intervene is that of thiamine deficiency. OBJECTIVES We present a case of an altered and unstable woman who presented to our busy ED and had rapid improvement after the administration of vitamin B1. We discuss the presentation, pathophysiology, consequences of missed diagnosis, and management of this disease process. CASE REPORT A middle-aged woman presented to our ED with unstable vital signs and an alteration in her mental status. She was unable to provide a history. Empiric treatment with thiamine resulted in the resolution of her hemodynamic instability and improvement in her mental status. CONCLUSION Our patient benefited from the swift administration of thiamine and illustrates the importance of thiamine administration in the altered or hemodynamically unstable emergency patient with an elevated lactate.
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Effect of folic acid, vitamin B6 and vitamin B12 supplementation on mortality and cardiovascular complication among patients with chronic kidney disease: an evidence-based case report.
Nursalim, A, Siregar, P, Widyahening, IS
Acta medica Indonesiana. 2013;(2):150-6
Abstract
AIM: to determine whether the administration of folic acid, vitamin B6 and vitamin B12 would lead to reduction of cardiovascular complication and mortality among CKD patients. METHODS a search was conducted on PubMed and Google. The selection of title and abstract was conducted using inclusion and exclusion criterias, which led to six relevant articles. The selected studies were critically appraised for its validity, importance and applicability. RESULTS the administration of folic acid and vitamin B reduce homocysteine level among CKD patients. Despite homocysteine level reduction, all six studies reported similar findings that folic acid and vitamin B supplementation did not significantly reduce cardiovascular complication and mortality. CONCLUSION treatment with folic acid, vitamin B6 and vitamin B12 did not reduce cardiovascular complication and mortality among CKD patients.
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Successful treatment of brain ischemia with supplementation therapy in a patient with hyperhomocysteinemia.
Zaletel, M, Ambrozic, A, Gaspersic, N, Zupan, M, Zvan, B
Acta clinica Croatica. 2011;(4):627-31
Abstract
The effectiveness of homocysteine-lowering therapy on stroke prevention is still unclear. Although randomized controlled epidemiological trials have yielded mixed findings, a multicenter trial did not show any beneficial effect. Genetic studies are still lacking. Therefore, we report on a female patient with transient ischemic attacks and the thermolabile variant of methylenetetrahydrofolate reductase (TT genotype), who benefited from supplemental therapy for homocysteine lowering.
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Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.
Borgna-Pignatti, C, Azzalli, M, Pedretti, S
The Journal of pediatrics. 2009;(2):295-7
Abstract
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.