The management of myelofibrosis: a British Society for Haematology guideline

This document represents an update of the British Society for Haematology guideline on Myelofibrosis first published in 2012 and updated in 2015 These guidelines aim to pro-vide healthcare professionals with clear guidance on stratified management for primary myelofibrosis (PMF), as well as post-polycythaemia myelofibrosis (post-PV MF) and postessential thrombocythaemia myelofibrosis (post-ET MF). A separate BSH guideline covers the diagnosis and prognostic evaluation of myelofibrosis and is published alongside this guideline

[Gayet-Wernicke encephalopathy with normal thiamine level: a case report]. / Encéphalopathie de Gayet-Wernicke avec taux de thiamine normale: à propos d'un cas.

Gayet-Wernicke encephalopathy is a neuropsychiatric emergency due to thiamine deficiency (vitamin B1), secondary to several factors. We here report a case of Gayet-Wernicke encephalopathy in a 43-year-old woman who didn't consume alcoholic beverages, presenting with disorders of consciousness and diplopia with normal thiamine level. Classic triad of symptoms and Magnetic resonance imaging (MRI) played an important role, in particular, in the diagnosis of Gayet-Wernicke encephalopathy with normal thiamine levels in the absence of alcohol abuse.

Comparative studies on vitamin B1 deficiency inwholeblood of chronically haemodialysed patients: chromatographic, fluorimetricandPCAstudy.

The levels of thiamine diphosphate (ThDP), the most active biologically form of vitamin B1, were assessed in whole blood oflong-term haemodialysed patients (n = 50), by applying chromatographic methods based on RP-HPLC technique with isocratic elution and fluorescence detection. The target analyte, thiochrome diphosphate (ThODP), was obtained by pre-column derivatization of vitamin B1 contained in blood samples, applying deproteination with trichloroacetic acid, following by oxidation with alkaline solution of potassium ferricyanide(III) and stabilization with DTT before assays. A simple and sensitive assay was developed, and the results were referenced to the commercially available test. Steady-state and time-resolved studies on emissive properties of ThODP enabled optimization of the proposed assay. The F-Snedecor test shown no statistically significant differences between both approaches. Assessed parameters of the proposed assay, such as linearity, precision, sensitivity, and recovery, were satisfactory if compared to the reference one. The LOQ value for ThDP in whole blood of studied group of patients was of 0.5 ng/mL and the recovery of88%. The results disclosed high individual variabilities in the interdialytic deficiencies of ThDP among the patients - ranged from afew percent to values close to 100%. A comprehensive clinical data, characterizing patients under study, were processed together, and analysed by employing achemometric discriminative tool, the Principal Components Analysis,to find interdependences among clinical data characterizing patients. The three Principal Components were disclosed, that in sum explained almost 50% of the observed variability of the clinical data set. Among the clinical parameters involved in PCs were dialyzer membrane and type, duration as well as levels of creatinine, haemoglobin, and red blood cells in patients' whole blood.

Association between thiamine decrease and neuropsychiatric symptoms in gastrointestinal and hematological cancer patients receiving chemotherapy.

BACKGROUND: Clinical evidence of thiamine-related neuropsychiatric symptoms, including the initial stage, is limited because serum thiamine levels tend to be evaluated only for patients who develop severe neuropsychiatric symptoms suspected to be related to severe thiamine deficiency. This study aimed to evaluate the relationship between thiamine decline and neuropsychiatric symptoms, including initial symptoms, and the effect of chemotherapy on serum thiamine levels in gastrointestinal and hematological cancer patients receiving chemotherapy. METHOD: We retrospectively identified 87 patients who were diagnosed with gastrointestinal and hematological cancers at our hospital. We evaluated the risk factors associated with neuropsychiatric symptoms, including initial symptoms (neuropsychiatric symptoms), the relationship between the presence of neuropsychiatric symptoms and serum thiamine levels, and changes in serum thiamine levels after chemotherapy. RESULTS: Logistic regression analysis identified thiamine decline as a significant factor associated with neuropsychiatric symptoms (p < 0.001, odds ratio = 0.040, 95% confidence interval [CI]: 0.010-0.163). The Mann-Whitney U test showed that patients with neuropsychiatric symptoms had significantly lower serum thiamine levels (19.5 ± 5.4 ng/mL, n = 39) than patients without neuropsychiatric symptoms (31.9 ± 14.2 ng/mL, n = 48) (p = 0.001). In hematological cancer patients, serum thiamine levels gradually declined after chemotherapy, with the lowest levels at 5-8 weeks (23.5 ± 7.6 ng/mL, P = 0.035 vs. 0 weeks, Wilcoxon rank sum test). CONCLUSION: Our study showed that a decrease in serum thiamine levels can be a risk factor for neuropsychiatric symptoms, and chemotherapy can lead to a decrease in serum thiamine levels.

Association Between Homocysteine and Vitamin Levels in Demented Patients.

BACKGROUND: Although it is known that the nutritional status among elderly persons and, in particular, patients with dementia, is compromised, malnutrition that results in insufficient uptake of several vitamins is often not diagnosed. OBJECTIVE: An elevated homocysteine level is a known strong risk factor for vascular dementia (VaD) and Alzheimer's disease (AD). Several B vitamins are involved in the metabolism of homocysteine. Therefore, we investigated the serum levels of vitamin B1, vitamin B6, folate, and vitamin B12 in 97 patients with mild cognitive impairment (MCI) or different forms of dementia and 54 elderly control persons without dementia. RESULTS: Compared to aged non-demented people, vitamins B1, B6, B12, and folate were decreased in serum of patients with AD, and patients with Lewy body dementia had reduced vitamin B12 level. Vitamin B6 was diminished in VaD. Patients with frontotemporal dementia showed no alterations in vitamin levels. Age was identified as an important factor contributing to the concentrations of vitamin B1 and B6 in serum, but not vitamin B12 and folate. Increased levels of total homocysteine were detected especially in MCI and AD. Homocysteine correlated negatively with levels of vitamins B6, B12, and folate and positively with Q Albumin. CONCLUSION: Our data suggest that despite increased homocysteine already present in MCI, vitamin levels are decreased only in dementia. We propose to determine the vitamin levels in patients with cognitive decline, but also elderly people in general, and recommend supplementing these nutrients if needed.

Volumetric absorptive microsampling (VAMS) as a reliable tool to assess thiamine status in dried blood microsamples: a comparative study.

BACKGROUND: Although populations from low- and middle-income countries are at higher risk for thiamine (vitamin B-1) deficiency, accurate data on the global prevalence of thiamine deficiency are still lacking due to the difficult blood collection in remote regions. Volumetric absorptive microsampling (VAMS) from finger prick blood, generating dried blood microsamples, could simplify blood collection and allow the setup of epidemiological studies to improve the diagnosis, treatment, and prevention of thiamine deficiency. OBJECTIVES: To explore the potential of VAMS to serve as an alternative, patient-centric sampling strategy to evaluate the thiamine status. METHODS: Venous liquid, venous VAMS, and capillary VAMS samples were collected from 50 healthy volunteers to compare thiamine diphosphate results, as a marker of thiamine (vitamin B-1) status, in the different sample types. In addition, capillary VAMS samples were sent through regular mail to evaluate the influence of noncontrolled transport on the final results. All samples were analyzed using previously described fully validated LC-MS/MS methods. RESULTS: A good agreement (94-100% of the results lying within 20% of their mean) was obtained for all comparisons: venous VAMS compared with venous liquid blood samples, capillary VAMS compared with venous VAMS samples, and capillary VAMS compared with venous liquid blood samples, with no significant bias (maximum mean bias of -1.0%; 95% CI: -4.1%, 2.0%) observed between the different methods. Finally, we demonstrated that VAMS samples can be safely transported through regular mail without affecting the final results. CONCLUSIONS: VAMS sampling can be used as a reliable alternative tool to evaluate the thiamine status, starting from only one drop of finger prick blood, in both developed and developing countries.

Thiamine deficiency unrelated to alcohol consumption in high-income countries: a literature review.

Thiamine deficiency has been typically associated with alcoholism or as a prevalent problem in low- and middle-income countries (LMICs) whose populations rely on staple foods with a low content of thiamine. We conducted a literature review of published and unpublished data to identify relevant adult cases with confirmed thiamine deficiency of nonalcoholic cause in developed countries. We selected 17 reports with 81 adult cases of confirmed thiamine deficiency affecting adult patients with a wide range of ages and underlying conditions (e.g., cancer, gastrointestinal diseases, heart failure, and obesity). Thiamine deficiency may have been caused by disease-related malnutrition, bariatric surgery, chronic use of diuretics, repeated vomiting, lack of thiamine in parenteral nutrition formulas, food insecurity, and reliance on monotonous or restrictive diets. Treatment with intravenous thiamine resulted in partial or complete recovery from the symptoms (cardiac, neurologic, and metabolic disorders) for most patients. The number and variety of symptomatic thiamine-deficient adults identified in this review demonstrates that thiamine deficiency is not exclusive to LMICs and, in high-income settings, is not exclusive to alcoholic patients. In developed countries, this serious but treatable condition can be expected in patients suffering from various medical conditions or following certain dietary patterns.

Assessment of salt intake to consider salt as a fortification vehicle for thiamine in Cambodia.

Thiamine deficiency is a public health issue in Cambodia. Thiamine fortification of salt has been proposed; however, the salt intake of lactating women, the target population, is currently unknown. We estimated salt intakes among lactating women (<6 months postpartum) using three methods: repeat observed-weighed intake records and 24-h urinary sodium excretions (n = 104), and household salt disappearance (n = 331). Usual salt intake was estimated by adjusting for intraindividual intakes using the National Cancer Institute method, and a thiamine salt fortification scenario was modeled using a modified estimated average requirement (EAR) cut-point method. Unadjusted salt intake from observed intakes was 9.3 (8.3-10.3) g/day, which was not different from estimated salt intake from urinary sodium excretions, 9.0 (8.4-9.7) g/day (P = 0.3). Estimated salt use from household salt disappearance was 11.3 (10.7-11.9) g/person/day. Usual (adjusted) salt intake from all sources was 7.7 (7.4-8.0) g/day. Assuming no stability losses, a modeled fortification dose of 275 mg thiamine/kg salt could increase thiamine intakes from fortified salt to 2.1 (2.0-2.2) mg/day, with even low salt consumers reaching the EAR of 1.2 mg/day from fortified salt alone. These findings, in conjunction with future sensory and stability research, can inform a potential salt fortification program in Cambodia.

Patient-Centric Assessment of Thiamine Status in Dried Blood Volumetric Absorptive Microsamples Using LC-MS/MS Analysis.

Many populations in low- and middle income countries are at a higher risk of thiamine deficiency, mainly due to the lack of dietary diversification and their reliance on staple crops low in thiamine content, such as polished rice. Unfortunately, symptoms of thiamine deficiency are variable and clinical determination of thiamine status is essential for early diagnosis. Currently, the diagnosis of thiamine deficiency in remote regions is hampered due to several drawbacks related to venous blood collection, for example, cold chain transport. Therefore, we here describe the first liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the determination of thiamine diphosphate (TDP) in dried blood, using volumetric absorptive microsampling (VAMS). Moreover, by setting up an additional method in liquid blood, the results in VAMS samples could be compared to liquid blood samples. Both methods, employing a simple one-step extraction and fast (2 min) chromatography, were fully validated based on international guidelines. Accuracy (% bias) was below 6.5% for all QC levels. The total imprecision (% CV) was below 13% for both QCs and native blood samples. The recovery of the VAMS samples was not impacted by the hematocrit, within the hematocrit range of 0.20-0.60. Additionally, we showed improved TDP stability in dried blood compared to liquid blood. VAMS samples were stable for 1 week at 60 °C or at high humidity (80%) and for at least 1 month at room temperature. Finally, we demonstrated the commutability of commercial calibrators with authentic blood samples. The validity and applicability of both methods were demonstrated via their successful application on blood samples from healthy volunteers.

Thiamine deficiency disorders: a clinical perspective.

Thiamine is an essential water-soluble vitamin that plays an important role in energy metabolism. Thiamine deficiency presents many challenges to clinicians, in part due to the broad clinical spectrum, referred to as thiamine deficiency disorders (TDDs), affecting the metabolic, neurologic, cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Concurrent illnesses and overlapping signs and symptoms with other disorders can further complicate this. As such, TDDs are frequently misdiagnosed and treatment opportunities missed, with fatal consequences or permanent neurologic sequelae. In the absence of specific diagnostic tests, a low threshold of clinical suspicion and early therapeutic thiamine is currently the best approach. Even in severe cases, rapid clinical improvement can occur within hours or days, with neurological involvement possibly requiring higher doses and a longer recovery time. Active research aims to help better identify patients with thiamine-responsive disorders and future research is needed to determine effective dosing regimens for the various clinical presentations of TDDs. Understanding the clinical diagnosis and global burden of thiamine deficiency will help to implement national surveillance and population-level prevention programs, with education to sensitize clinicians to TDDs. With concerted effort, the morbidity and mortality related to thiamine deficiency can be reduced.

Evaluation of Serum Thiamine and Pyridoxine Levels in Patients Undergoing Liver Transplant: A Prospective Study.

OBJECTIVES: This prospective study aimed to compare changes in serum thiamine and pyridoxine levels of patients who underwent liver transplant or living donor hepatectomy. MATERIALS AND METHODS: Between January 2013 and November 2013, 35 patients with chronic liver disease who underwent liver transplant (the recipient group) and 30 healthy individuals who underwent living donor hepatectomy (the control group) during the same period were prospectively compared in terms of both preoperative and postoperative serum thiamine and pyridoxine levels. The groups were also subjected to intragroup analysis of preoperative and postoperative changes in serum vitamin levels to determine how a major surgical procedure affected serum vitamin levels. Mann-Whitney U test and Wilcoxon signed-rank test were used for intergroup comparisons and intragroup repeated measurements, respectively. RESULTS: The intergroup comparisons revealed significant differences in favor of the control group with respect to preoperative thiamine (P < .026) and postoperative thiamine (P < .017) levels, whereas there were statistically significant differences in favor of the recipient group with respect to the preoperative pyridoxine (P < .006) and postoperative pyridoxine (P < .001) levels. The intragroup comparisons showed significant increases in serum thiamine (P < .001) and pyridoxine (P < .031) levels compared with the preoperative serum levels of both vitamins at postoperative day 5 in the recipient group. In the control group, serum thiamine level (P < .001) at postoperative day 5 was significantly different from the preoperative level. On the other hand, a drop in serum pyridoxine level was detected at postoperative day 5, although this was not statistically significant (P < .21). CONCLUSIONS: This study showed a lower serum thiamine level but a higher serum pyridoxine level in patients with chronic liver disease versus healthy controls. This difference persisted into the early postoperative period. This study also showed significant increases in thiamine and pyridoxine levels after transplant surgery.

Thiamine deficiency in a dog associated with exclusive consumption of boiled sweet potato (Ipomoea batatas): Serial changes in clinical findings, magnetic resonance imaging findings and blood lactate and thiamine concentrations.

Thiamine (vitamin B1 ) is an essential nutrient that significantly influences ATP production in the body. It needs to be supplemented consistently through an exogenous source to prevent deficiency; however, it is easily affected by a variety of mitigating factors. Additionally, thiamine requirements can be influenced by an individual's dietary composition. The nervous system is particularly vulnerable to thiamine deficiency due to its high metabolic demand. Thiamine deficiency is typically diagnosed based on clinical signs, dietary history and response to thiamine administration. A 5-year-old neutered male Maltese Terrier dog presented with an acute onset of seizures and generalized ataxia. The dog was exclusively fed boiled sweet potato (Ipomoea batatas) as a primary diet source for 4 weeks. MR findings and hyperlactatemic conditions were consistent with thiamine deficiency, and the diagnosis was confirmed by measuring thiamine concentrations in blood using high-performance liquid chromatography (HPLC). Appropriate thiamine supplementation and diet changes resulted in a rapid improvement in neurological signs. Repeated MR imaging 2 weeks after starting the treatment completely resolved the previously identified abnormalities, and repeated measurements of blood lactate and thiamine levels revealed complete recovery of the thiamine-deficient status.

Thiamine and phosphate esters concentrations in whole blood and serum of patients with alcohol use disorder: a relation with cognitive deficits.

Background: In this study, we investigated (1) the effect of chronic and excessive alcohol consumption on whole blood (WB) and serum concentrations of thiamine and its metabolites after supplementation, and (2) the relationship between the perturbations of thiamine metabolism and neuropsychological abilities.Methods: WB and serum samples were collected in patients with Alcohol Use Disorder (AUD) and in healthy control subjects (after oral thiamine supplementation, or without supplementation). Thiamine (Th), thiamine monophosphate (TMP) and thiamine diphosphate (TDP) were quantified. The Brief Evaluation of Alcohol-Related Neuropsychological Impairments (BEARNI) and the Montreal Cognitive Assessment (MoCA) were performed by each AUD participant. Based on the BEARNI score, two groups of AUD patients were studied: AUD patients with no or mild cognitive impairment (AUD COG+), and AUD patients with moderate-to-severe cognitive impairment (AUD COG-).Results: In WB, Th concentrations were significantly higher, and percentages of phosphate esters of thiamine were significantly lower in AUD COG- patients compared to controls. In serum, Th concentrations were significantly higher in AUD COG- patients compared to controls. The percentage of Th in serum was significantly higher in AUD COG- patients compared to AUD COG+ patients, and to the groups of controls. When adjusted on education level, the percentage of Th in serum in AUD patients negatively correlated with the scores at BEARNI and MoCA, and Th concentration in serum negatively correlated with MoCA.Conclusions: These data support an impairment of metabolism and/or distribution of thiamine in AUD patients, and a relationship with the development of alcohol-related cognitive deficits.

The Relevance of Thiamine Evaluation in a Practical Setting.

Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and participates in multiple cellular metabolic processes. Although thiamine can be obtained from various food sources, some common food groups are deficient in thiamine, and it can be denatured by high temperature and pH. Additionally, different drugs can alter thiamine metabolism. In addition, the half-life of thiamine in the body is between 1 and 3 weeks. All these factors could provide an explanation for the relatively short period needed to develop thiamine deficiency and observe the consequent clinical symptoms. Thiamine deficiency could lead to neurological and cardiological problems. These clinical conditions could be severe or even fatal. Marginal deficiency too may promote weaker symptoms that might be overlooked. Patients undergoing upper gastrointestinal or pancreatic surgery could have or develop thiamine deficiency for many different reasons. To achieve the best outcome for these patients, we strongly recommend the execution of both an adequate preoperative nutritional assessment, which includes thiamine evaluation, and a close nutritional follow up to avoid a nutrient deficit in the postoperative period.

Micronutrient supplementation of lactating Guatemalan women acutely increases infants' intake of riboflavin, thiamin, pyridoxal, and cobalamin, but not niacin, in a randomized crossover trial.

BACKGROUND: Maternal supplementation during lactation could increase milk B-vitamin concentrations, but little is known about the kinetics of milk vitamin responses. OBJECTIVES: We compared acute effects of maternal lipid-based nutrient supplement (LNS) consumption (n = 22 nutrients, 175%-212% of the RDA intake for the nutrients examined), as a single dose or at spaced intervals during 8 h, on milk concentrations and infant intake from milk of B-vitamins. METHODS: This randomized crossover trial in Quetzaltenango, Guatemala included 26 mother-infant dyads 4-6 mo postpartum who were randomly assigned to receive 3 treatments in a random order: bolus 30-g dose of LNS (Bolus); 3 × 10-g doses of LNS (Divided); and no LNS (Control), with control meals. Mothers attended three 8-h visits during which infant milk consumption was measured and milk samples were collected at every feed. Infant intake was assessed as $\mathop \sum \nolimits_{i\ = \ 1}^n ( {{\rm{milk\ volum}}{{\rm{e}}_{{\rm{feed\ }}n}} \times \ {\rm{nutrient\ concentratio}}{{\rm{n}}_{{\rm{feed}}\ n}}} )$ over 8 h. RESULTS: Maternal supplementation with the Bolus or Divided dose increased least-squares mean (95% CI) milk and infant intakes of riboflavin [milk: Bolus: 154.4 (138.2, 172.5) µg · min-1 · mL-1; Control: 84.5 (75.8, 94.3) µg · min-1 · mL-1; infant: Bolus: 64.5 (56.1, 74.3) µg; Control: 34.5 (30.0, 39.6) µg], thiamin [milk: Bolus: 10.9 (10.1, 11.7) µg · min-1 · mL-1; Control: 7.7 (7.2, 8.3) µg · min-1 · mL-1; infant: Bolus: 5.1 (4.4, 6.0) µg; Control: 3.4 (2.9, 4.0) µg], and pyridoxal [milk: Bolus: 90.5 (82.8, 98.9) µg · min-1 · mL-1; Control: 60.8 (55.8, 66.3) µg · min-1 · mL-1; infant: Bolus: 39.4 (33.5, 46.4) µg; Control: 25.0 (21.4, 29.2) µg] (all P < 0.001). Only the Bolus dose increased cobalamin in milk [Bolus: 0.054 (0.047, 0.061) µg · min-1 · mL-1; Control: 0.041 (0.035, 0.048) µg · min-1 · mL-1, P = 0.039] and infant cobalamin intake [Bolus: 0.023 (0.020, 0.027) µg; Control: 0.015 (0.013, 0.018) µg, P = 0.001] compared with Control. Niacin was unaffected. CONCLUSIONS: Maternal supplementation with LNS as a Bolus or Divided dose was similarly effective at increasing milk riboflavin, thiamin, and pyridoxal and infant intakes, whereas only the Bolus dose increased cobalamin. Niacin was unaffected in 8 h. This trial was registered at clinicaltrials.gov as NCT02464111.

Case Report: Nutritional and Toxic Optic Neuropathy: A Diagnostic Dilemma.

SIGNIFICANCE: Nutritional and toxic optic neuropathies are rare disorders characterized by visual impairment due to optic nerve damage by a toxin, usually with coexisting nutritional deficiencies. Its pathophysiology is still unclear, and multiple mechanisms implicated act synergistically to bring about this condition. The decline in its incidence and its confusing clinical appearance make diagnosing nutritional and toxic optic neuropathies challenging. PURPOSE: This is an observational clinical case report of an atypical clinical case of a nutritional and toxic optic neuropathy with a subacute presentation and papilledema at the time of diagnosis. The patient provided written informed consent for medical information and images to be published. CASE REPORT: A 47-year-old man presented with progressive, painless bilateral decrease in central vision over 15 days. The patient had a long-standing history of alcohol abuse and was a heavy smoker. The examination revealed dyschromatopsia, 20/400 visual acuity on both eyes, and no relative afferent pupillary defect. Funduscopy revealed bilateral papilledema. A visual field test showed generalized depression with centrocecal involvement in the left eye. Laboratory studies evidenced decreased vitamin B12/B1 and red blood cell folate levels, increased acute phase reactants, hypertransaminasemia, and macrocytic anemia. Serologies and methanol in urine were negative. After the discontinuation of tobacco use and alcohol accompanied by vitamin supplementation, our patient's visual field, visual acuity, and papilledema improved remarkably. After 5 months, visual acuity and funduscopy were normal. CONCLUSIONS: Although some hallmark signs were visible in this case, its subacute presentation and the presence of papilledema at diagnosis caused some diagnostic uncertainty. Nutritional and toxic optic neuropathy is a rare and challenging diagnosis because of a lack of biomarkers. Eye care clinicians should consider nutritional and toxic optic neuropathies to prevent severe and irreversible visual damage resulting from underdiagnosis and mismanagement.

Pathophysiology, prevention, and treatment of beriberi after gastric surgery.

Beriberi is a nutritional complication of gastric surgery, caused by deficiency of vitamin B1, or thiamine. Thiamine deficiency leads to impaired glucose metabolism, decreased delivery of oxygen by red blood cells, cardiac dysfunction, failure of neurotransmission, and neuronal death. This review describes the history and pathophysiology of beriberi as well as the relationship between beriberi and nutritional deficiencies after gastric surgery. A literature review of the history and pathophysiology of beriberi and the risk factors for thiamine deficiency, particularly after gastric resection or bariatric surgery, was performed. Recommendations for nutritional follow-up post gastric surgery are based on current national guidelines. Patients may have subclinical thiamine deficiency after upper gastrointestinal surgery, and thus beriberi may be precipitated by acute illness such as sepsis or poor dietary intake. This may occur very soon or many years after gastrectomy or bariatric surgery, even in apparently well-nourished patients. Prompt recognition and administration of supplemental thiamine can decrease morbidity and mortality in patients with beriberi. Dietary education post surgery and long-term follow-up to determine nutritional status, including vitamin and mineral assessment, is recommended for patients who undergo gastric surgery.

Comprehensive review of Wernicke encephalopathy: pathophysiology, clinical symptoms and imaging findings.

Wernicke's encephalopathy (WE) is a severe and life-threatening illness resulting from vitamin B1 (thiamine) deficiency. The prevalence of WE has been estimated from 0.4 to 2.8%. If not treated properly, severe neurologic disorders such as Korsakoff psychosis and even death may occur. The classical triad of clinical symptoms (abnormal mental state, ataxia, and ophthalmoplegia) is found in only 16-33% of patients on initial examination. The originally described underlying condition of WE is alcoholism, but it accounts for about 50% of causes of WE. Nonalcoholic patients are also affected by WE and likely to present symptoms and radiological imaging findings different from patients with alcoholism, which further complicates the diagnosis of WE. Being familiar with predisposing causes, symptoms and radiological imaging findings of WE is important for radiologists and clinicians when making the diagnosis to start immediate treatment. This review discusses pathophysiologies, underlying causes, clinical symptoms, imaging findings and their mimics.

Vision loss, gaze palsy, and nystagmus in a patient with leukemia.

A 22-year old male with a history of B-cell acute lymphoblastic leukemia with recent bone marrow transplantation and on immunosuppressive therapy presented with painless, subacute vision loss of two weeks duration. He exhibited a horizontal gaze palsy, nystagmus, and mildly swollen and hyperemic optic discs with peripapillary flame hemorrhage on retinal exam. He had bilateral cecocentral scotomas on visual field exam, and MRI of his brain/orbits demonstrated hyperintensities in the hypothalamus, periaqueductal gray, and dorsal rostral medullary regions. After continued progression of symptoms despite discontinuation of the patient's tacrolimus, an empiric trial of IV thiamine treatment was started before the patient's lab vitamin levels were available, given strong clinical suspicion for a nutritional etiology. The patient's clinical presentation improved dramatically, and he achieved a final visual acuity of 20/20, full visual fields bilaterally, and resolution of nystagmus. A final diagnosis of Wernicke's encephalopathy was supported by his clinical course, imaging findings, and further confirmation with blood thiamine levels. This case presents unique ocular manifestations of Wernicke's encephalopathy and highlights the importance of early diagnosis in this potentially reversible condition.

Relationship between Vitamin Deficiencies and Co-Occurring Symptoms in Autism Spectrum Disorder.

Recently, connections have been made between feeding and eating problems and autism spectrum disorder (ASD) and between autism pathophysiology and diet issues. These could explain some of the mechanisms which have not yet been discovered or are not sufficiently characterized. Moreover, there is an increased awareness for micronutrients in ASD due to the presence of gastrointestinal (GI) problems that can be related to feeding issues. For example, levels of vitamins B1, B6, B12, A and D are often reported to be low in ASD children. Thus, in the present mini review we focused on describing the impact of some vitamins deficiencies and their relevance in ASD patients.