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[Polyneuropathy caused by vitamin B12 deficiency secondary to chronic atrophic gastritis and giardiasis].

INTRODUCTION: In chronic atrophic gastritis atrophy of the stomach glands leads to intrinsic factor deficit, with consequent failure to absorb vitamin B12 and gastric achylia, which predisposes to Giardia infection which in itself leads to depletion of vitamin B12. We describe the case of a patient with peripheral and central nervous system pathology due to lack of vitamin B12 secondary to the combined effect of these two disorders. CLINICAL CASE: A 54 year old woman consulted us for paraesthesia and weakness of the legs which had been progressive for the previous two years. She presented wit

Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.

BACKGROUND: The cblE disorder is an inherited disorder of vitamin B12 metabolism that results in elevated levels of homocysteine and decreased methionine in body fluids. Renal complications have been reported in patients with cblC disease, but not in those with cblE disease. The renal complications of cblC disease include thrombotic microangiopathy (TMA), neonatal hemolytic uremic syndrome, chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis. Previously, we reported a patient with cblC disease who had an atypical glomerulopathy that manifested with proteinur

Basic measures and systemic medical treatment of patients with toxic epidermal necrolysis.

BACKGROUND: With an incidence of 1.5-1.8/1 million inhabitants per year, toxic epidermal necrolysis is a rare but life threatening disease. It is almost always drug-induced and its lethality is pronounced with up to 50 %. Several therapeutic options are described in literature; however, there is still lack of a universally accepted and specific therapy of toxic epidermal necrolysis. METHODS: This survey considers 8 cases of toxic epidermal necrolysis diagnosed and treated in our clinic from 2003 to 2007. The epidermal sloughing was > 30 % of the body surface in each case. RESULTS: After imme

Cyanide Poisoning.

AUDIENCE: The goal of this simulation is to educate emergency medicine students, residents, attending physicians, and mid-level practitioner … de are. Cyanide toxicity must be treated with an antidote - sodium thiosulfate, sodium nitrite, and hydroxocobalamin.4 Each of the antidotes works by binding with the highly reactive cyanide, neutralizing the compound, and converting it into a water-soluble product that will be cleared through renal excretion.4Fire victims often present to the emergency department …

Clinical practice guidelines on addressing cognitive impairment in treatable dementias.

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… Available preparations : Two forms of Vit B12 are available, i.e., Cyanocobalamin, which has a cyanide (CN) group added during chemical manufacture, and hydroxocobalamin (also known as cobalamin). Both are effective in treatment of vitamin B12 deficiency and are available in India. … Though, cyanocobalamin is predominantly used in the United States and hydroxocobalamin is predominantly used in Europe. Citing different kinetics, maintenance dosing frequency of cyanocobalamin is more frequent than hydroxocobalamin. …

An infant and mother with severe B12 deficiency: vitamin B12 status assessment should be determined in pregnant women with anaemia.

The vitamin B12 status of infants depends on maternal B12 status during pregnancy, and during lactation if breastfed. We present a 9-month-old girl who was admitted to the metabolic unit for assessment of developmental delay. She was exclusively breastfed and the introduction of solids at 5 months was unsuccessful. Investigations revealed pancytopenia, undetectable B12 and highly elevated methylmalonic acid and homocysteine. Methylmalonic acid and homocysteine normalised following B12 injections. Marked catch-up of developmental milestones was noted after treatment with B12. Investigations of

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.

BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI). Further examination revealed signs of TMA, and the patient progressed to acute renal fa

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

PURPOSE: To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn error of intracellular vitamin B12 metabolism. DESIGN: Retrospective, observational case series. PARTICIPANTS: Twenty-five cblC patients underwent clinical and ophthalmic examination at the National Institutes of Health between August 2004 and September 2012. Patient ages ranged from 2 to 27 years at last ophthalmic visit, and follow-up ranged from 0 to 83 months (median, 37 months; range, 13-83 months) over a total of 69 visits. METHODS: Best-corrected visual acuity, slit-lamp biomicroscopy, dilated f

Glutamate receptors on myelinated spinal cord axons: I. GluR6 kainate receptors.

OBJECTIVE: The deleterious effects of glutamate excitotoxicity are well described for central nervous system gray matter. Although overactivation of glutamate receptors also contributes to axonal injury, the mechanisms are poorly understood. Our goal was to elucidate the mechanisms of kainate receptor-dependent axonal Ca(2+) deregulation. METHODS: Dorsal column axons were loaded with a Ca(2+) indicator and imaged in vitro using confocal laser-scanning microscopy. RESULTS: Activation of glutamate receptor 6 (GluR6) kainate receptors promoted a substantial increase in axonal [Ca(2+)]. This Ca(

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

BACKGROUND: The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and ho … henotypes of CblC disease. Patients with this mutation tend to have a relatively better response to hydroxocobalamin, better metabolic control, and more favorable neurological outcomes. NBS and other appropriate pre-symptomatic treatments seem to be helpful in early diagnosis, resulting in favorable clinical outcomes. Video Abstract (MP4 136794 kb).

Small heat shock protein hsp27 as a possible mediator of intercellular adhesion-induced drug resistance in human larynx carcinoma HEp-2 cells.

The confluence-dependent resistance of human larynx carcinoma HEp-2 cells to hydrogen peroxide and a new antitumor drug based on the combination of vitamins C and B12b was studied. It was found that this resistance in growing cells is suppressed by the disruption of intercellular contacts by EGTA and is related neither to the activity of P-glycoprotein nor to the content of intracellular glutathione and the activities of glutathione S-transferases, glutathione peroxidase and glutathionine reductase. Here we showed that the level of expression of the small heat shock protein hsp27, which is kno

Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.

A 20-year-old man was hospitalized for malignant hypertension, mechanical hemolysis, and kidney failure. Kidney biopsy confirmed glomerular and arteriolar thrombotic microangiopathy. Etiologic analyses, which included ADAMTS13 activity, stool culture, complement factor proteins (C3, C4, factor H, factor I, and MCP [membrane cofactor protein]), anti-factor H antibodies, HIV (human immunodeficiency virus) serology, and antinuclear and antiphospholipid antibodies, returned normal results. Malignant hypertension was diagnosed. Ten months later, we observed a relapse of acute kidney injury and mech

Cobalamin C defect presenting with isolated pulmonary hypertension.

Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease. In most cases, the clinical symptoms of cblC defect tend to appear during infancy or early childhood as a multisystem disease with severe neurologic, ocular, hematologic, renal, and gastrointestinal signs. The neurologic findings are common and include hypotonia, developmental delay, microcephaly, seizures hydrocephalus, and brain MRI abnormalities. We report a case of a young boy with cblC defect, who did not undergo newborn screening, presenting at

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier biochemical studies proposed that the methionine synthase enzyme might be activated by two different reducing systems, mutations were reported in only the methionine synthase reductase gene (MTRR) in cblE patients. The pathogenicity of MTRR mutations, however, has not yet been tested functionally. We report on nine patients of European origin affected by the cblE type of homocystinuria. They presented between 2 weeks and 3 years of age (median

Essential Medicinal Chemistry of Essential Medicines.

Since 1977, the World Health Organization publishes a list of essential medicines, i.e., those that satisfy the priority health care needs of the population and are selected with regard to disease prevalence and public health relevance, evidence of clinical efficacy, and safety, as well as comparative costs and cost-effectiveness. The Essential Medicines List (EML) is an invaluable tool for all countries to select those medicines that have an excellent risk/benefit ratio and that are reputed to be of pivotal importance to health. In the present perspective, we describe the chemical composition

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… Phosphorus is represented in 3% of EM organic drugs ( Figure 5 ): the antibiotic fosfomycin and hydroxocobalamin, the antileishmaniasis miltefosine, and the antiosteoporotic bisphosphonate zoledronic acid. … The remaining elements are arsenic in melarsoprol, antimonium in sodium stibogluconate, cobalt in hydroxocobalamin, and iron in sodium nitroprusside. Which Are the Most Represented Functional Groups and Heterocycles in the EML? …

2021 ACMT Annual Scientific Meeting Abstracts-Virtual.

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[Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases].

OBJECTIVE: To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristi … including a sister and a brother from the same parents. (6) Treatment and follow up: Intramuscular hydroxocobalamin or vitamin B12 was given to all of the patients, together with betaine, levocarnidtine, folinic acid and vitamin B6. According to the severity of PH, single or combined PAH targeted drugs was given to 11 cases. By an average of (20.0±13.5) days of i …

Гомоцитистейн, питание и Гут Микробиота: всеобъемлющий обзор текущих данных и понимания.

Гомоциштейн, содержащий серную аминокислоту, является промежуточным продуктом во время метаболизма метатонина, жизненно важной аминокислоты. Возвышенная концентрация гомоцистайна в плазме, названной гипергомоцистистемией, в значительной степени связана с возникновением нескольких заболеваний, включая диабет, множественный склероз, остеопороз, рак и нейродегенеративные расстройства, такие как слабоумие, болезни Альцгеймера и Паркинсона. Сообщалось о взаимодействии между метаболическими путями гомоциштейна и кишечной микробиотой, а также о конкретных микробных сигнатурах у лиц, страдающих гиперг

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… The authors confirmed the effectiveness of supplementation, particularly when intervention periods ≥ 12 weeks and doses >500 µg/d, and indicated that hydroxocobalamin was more beneficial than other forms of vitamin B12. …

Cobalamin deficiency, hyperhomocysteinemia, and dementia.

IntroductionAlthough consensus guidelines recommend checking serum B12 in patients with dementia, clinicians are often faced with various questions: (1) Which patients should be tested? (2) What test should be ordered? (3) How are inferences made from such testing? (4) In addition to serum B12, should other tests be ordered? (5) Is B12 deficiency compatible with dementia of the Alzheimer's type? (6) What is to be expected from treatment? (7) How is B12 deficiency treated?MethodsOn January 31st, 2009, a Medline search was performed revealing 1,627 citations related to cobalamin deficiency, hype

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… hypovitaminosis B12 351 , 353 and hyperhomocysteinemia. 357 Treatment type Compounds Glutathionylcobalamin used by neurons under oxidative stress conditions 146 not commercially available 146 , 290 Cyanocobalamin not used by neurons under oxidative stress conditions 146 , 290 commercially available Hydroxocobalamin … Although it may be advantageous in cognitive improvement or protection, 475 it has not been compared with cyanocobalamin or hydroxocobalamin in clinical trials, and it may not be readily available in many western countries. …

15th Конгресс Европейской ассоциации клинической фармакологии и терапии (ЕАКПТ)

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