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3.
Medicine (Baltimore) ; 98(39): e17334, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574870

RESUMO

RATIONALE: Subacute combined degeneration (SCD) is a disease caused by decreased vitamin B12 intake or metabolic disorders. It is more common in the elderly and rarely seen in children. Here, we report 2 pediatric cases of SCD in late-onset cobalamin C (CblC) deficiency. PATIENT CONCERNS: The patients complained of unsteady gait. Their physical examination showed sensory ataxia. Magnetic resonance imaging showed classic manifestations of SCD. The serum vitamin B12 level was normal, but urine methylmalonic acid and serum homocysteine levels were high. DIAGNOSIS: The pathogenic gene was confirmed as MMACHC. The 2 patients each had 2 pathogenic mutations C.482 G>A and C.271dupA and C.365A>T and C.609G>A in this gene. They were diagnosed with combined methylmalonic acidemia and homocysteinemia-CblC subtype. INTERVENTIONS: The patients were treated with methylcobalamin 500 µg intravenous injection daily after being admitted. After the diagnosis, levocarnitine, betaine, and vitamin B12 were added to the treatment. OUTCOMES: Twelve days after treatment, the boy could walk normally, and his tendon reflex and sense of position returned to normal. The abnormal gait seemed to have become permanent in the girl and she walked with her legs raised higher than normal. LESSONS: To the best of our knowledge, this is the first report of 2 cases of isolated SCD in children with late-onset CblC disorder. Doctors should consider that SCD could be an isolated symptom of CblC disorder. The earlier the treatment, the lower the likelihood of sequelae.


Assuntos
Proteínas de Transporte/genética , Homocistinúria , Degeneração Combinada Subaguda , Deficiência de Vitamina B 12/congênito , Vitamina B 12/análogos & derivados , Adolescente , Ataxia/diagnóstico , Ataxia/etiologia , Ataxia/terapia , Encéfalo/diagnóstico por imagem , Criança , Feminino , Homocisteína/sangue , Homocistinúria/diagnóstico , Homocistinúria/genética , Humanos , Injeções Intravenosas , Transtornos de Início Tardio , Imagem por Ressonância Magnética/métodos , Masculino , Ácido Metilmalônico/urina , Mutação , Oxirredutases , Degeneração Combinada Subaguda/diagnóstico , Degeneração Combinada Subaguda/etiologia , Degeneração Combinada Subaguda/fisiopatologia , Degeneração Combinada Subaguda/terapia , Resultado do Tratamento , Vitamina B 12/administração & dosagem , Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/genética , Complexo Vitamínico B/administração & dosagem
4.
BMC Pregnancy Childbirth ; 19(1): 318, 2019 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-31470807

RESUMO

BACKGROUND: Cobalamin metabolism disorders are rare, inherited diseases which cause megaloblastic anaemia and other clinical manifestations. Early diagnosis of these conditions is essential, in order to allow appropriate treatment as early as possible. CASE PRESENTATION: Here we report the case of a patient who was apparently healthy until the age of 20, when she presented with impaired renal function and normocytic anaemia. At the age of 34, when her first pregnancy resulted in an intrauterine death of a morphologically normal growth-restricted foetus, she was diagnosed with homocystinuria and methylmalonic aciduria due to cyanocobalamin C (cblC) defect, which was confirmed by molecular investigation. Consequently, hydroxocobalamin was administered to correct homocysteine plasma levels. This treatment was efficacious in lowering homocysteine plasma levels and restored anaemia and renal function. During a second pregnancy, the patient was also administered a prophylactic dose of low molecular -weight heparin. The pregnancy concluded with a full-term delivery of a healthy male. CONCLUSIONS: This case emphasises the importance of awareness and appropriate management of rare metabolic diseases during pregnancy. We suggest that women with late-onset cblC defect can have a positive pregnancy outcome if this metabolic disease is treated adequately.


Assuntos
Anticoagulantes/uso terapêutico , Enoxaparina/uso terapêutico , Homocistinúria/tratamento farmacológico , Hidroxocobalamina/uso terapêutico , Leucovorina/uso terapêutico , Complicações na Gravidez/tratamento farmacológico , Deficiência de Vitamina B 12/congênito , Complexo Vitamínico B/uso terapêutico , Aborto Espontâneo , Adulto , Feminino , Retardo do Crescimento Fetal , Homocistinúria/diagnóstico , Humanos , Gravidez , Resultado da Gravidez , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico
6.
Nutrients ; 11(9)2019 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-31461828

RESUMO

Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (TT1) is similar to PKU in both pathogenesis and treatment. TT1 patients follow a similar diet, but nutritional deficiencies have not been investigated yet. In this retrospective study, biomarkers of micronutrients in TT1 and PKU patients were investigated and outcomes were correlated to dietary intake and anthropometric measurements from regular follow-up measurements from patients attending the outpatient clinic. Data was analyzed using Kruskal-Wallis, Fisher's exact and Spearman correlation tests. Furthermore, descriptive data were used. Overall, similar results for TT1 and PKU patients (with and without BH4) were observed. In all groups high vitamin B12 concentrations were seen rather than B12 deficiencies. Furthermore, all groups showed biochemical evidence of vitamin D deficiency. This study shows that micronutrients in TT1 and PKU patients are similar and often within the normal ranges and that vitamin D concentrations could be optimized.


Assuntos
Aminoácidos/administração & dosagem , Dieta com Restrição de Proteínas , Suplementos Nutricionais , Micronutrientes/sangue , Estado Nutricional , Fenilcetonúrias/dietoterapia , Tirosinemias/dietoterapia , Adolescente , Adulto , Idoso , Aminoácidos/efeitos adversos , Biomarcadores/sangue , Biopterina/análogos & derivados , Biopterina/uso terapêutico , Criança , Pré-Escolar , Cicloexanonas/uso terapêutico , Dieta com Restrição de Proteínas/efeitos adversos , Suplementos Nutricionais/efeitos adversos , Inibidores Enzimáticos/uso terapêutico , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Nitrobenzoatos/uso terapêutico , Fenilcetonúrias/sangue , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/fisiopatologia , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Tirosinemias/sangue , Tirosinemias/fisiopatologia , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/etiologia , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/etiologia , Adulto Jovem
7.
Georgian Med News ; (290): 45-48, 2019 May.
Artigo em Russo | MEDLINE | ID: mdl-31322513

RESUMO

Normal red blood cells maturation depends on many different hematological factors, including vitamin (vit.) B12. Megaloblastic anemias are basically caused by vit. B12 deficiency. In childhood the deficiency of this vitamin is extremely rare. The article captures findings of observation of the patient with rare form congenital vit. B12 deficiency anemia - Imerslund-Gräsbeck syndrome. The disease is characterized with selective intestinal malabsorption of vit. B12 and permanent proteinuria, without sings of kidney disease. The diagnosis was confirmed by our team in early childhood and based on the history, clinical and paraclinical data. After two weeks of specific treatment with vit. B12 , complete clinical - hematological remission was achieved. Treatment includes lifelong vit. B12 injections once per month. Cathamnesic observation for 18 months revealed that the patient is in remission, but there was continued macrocytosis of red blood cells and mild proteinuria. The presented case is interesting as a rare case of megaloblastic anemia caused by vit. B12 deficiency in childhood. Such patients often treated under different diagnosis. In such cases early diagnosis, treatment and prevention are crucial for the good prognosis.


Assuntos
Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamento farmacológico , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/tratamento farmacológico , Proteinúria/diagnóstico , Proteinúria/tratamento farmacológico , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico , Vitamina B 12/uso terapêutico , Anemia Megaloblástica/congênito , Criança , Pré-Escolar , Humanos , Síndromes de Malabsorção/congênito , Proteinúria/congênito , Doenças Raras , Resultado do Tratamento , Deficiência de Vitamina B 12/congênito
8.
Eur J Med Genet ; 62(10): 103713, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31279840

RESUMO

Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the most common cobalamin metabolic disorder. Its clinical phenotype involves multiple systems with varying degrees of severity, where in mild cases can be asymptomatic for many years, whereas severe cases may cause death during the neonatal period. The disease is caused by mutations in the MMACHC gene located on chromosome 1p34.1 that contains 5 exons; among which, exons 1-4 have an 849 bp coding sequence that encodes a protein containing 282 amino acids. Through clinical physical examination and laboratory tests, especially blood and urine screening, we found 28 cblC pediatric patients with clinical manifestations, such as mental retardation, motor development delay, epilepsy, metabolic acidosis, vomiting and diarrhea. By Sanger sequencing, we found homozygous or compound heterozygous mutations of MMACHC in 27 of the patients, and single heterozygous mutation of MMACHC in one of them. The c.609G > A, c.658-660delAAG, c.80A > G and c.482G > A mutations accounted for 43.64% (24/55), 10.91% (6/55), 9.09% (5/55) and 7.27% (4/55) of all the mutations, respectively. This spectrum finding is basically consistent with the previously reported data in Chinese patients. The most common c.609G > A mutation may likely lead to early-onset cblC disease. In previous literature involving a large sample of Caucasian cblC cases, the mutation spectrum of MMACHC gene is almost completely different from that of the Chinese population. The most common mutations in the Caucasian population were c.271dupA, c.394C > T and c.331C > T, which account for 48.05% (542/1128), 13.65% (154/1128) and 7.36% (83/1128) of all the mutant alleles, respectively. The c.271dupA mutation and c.331C > T mutation were mainly associated with early-onset cblC in children less than 1 year old, whilst the c.394C > T mutation was mainly associated with late-onset cblC patients characterised by isolated acute nervous system abnormalities. We also analysed the cause behind the different mutation spectrum of MMACHC gene between the Chinese and Caucasian populations.


Assuntos
Predisposição Genética para Doença , Homocistinúria/genética , Mutação , Oxirredutases/genética , Deficiência de Vitamina B 12/congênito , Idade de Início , Alelos , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Genótipo , Homocistinúria/diagnóstico , Homocistinúria/metabolismo , Humanos , Lactente , Recém-Nascido , Masculino , Oxirredutases/metabolismo , Fenótipo , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/genética , Deficiência de Vitamina B 12/metabolismo
10.
Pan Afr Med J ; 32: 108, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31223398

RESUMO

Neurological disorders secondary to vitamin B12 deficiency are polymorphic and diverse. There have been very few studies conducted in the Moroccan as well as in the African population. This study aims to describe the clinical, paraclinical, evolutionary features of neurological manifestations in patients with vitamin B12 deficiency within the Department of Neurology at the Moulay Ismail Military Hospital, Meknes over a period of 18 years (1999-2017). The study involved 06 women and 23 men, with an average age of 57 years. The mean time between symptom onset and diagnosis was 3 months. Neurological manifestation was indicative of vitamin B12 deficiency in 100% of cases. The average hemoglobin level was 10 g/dl, the mean corpuscular volume was 115 fl. Medullary megaloblastosis and atrophic gastritis were found in 95% and 90% of cases respectively. Regular electromyography (EMG), electroencephalography (EEG) and visual evoked potentials (VEP) showed subclinical peripheral and optic neuropathies. In 20 cases they were caused by Biermer's anemia. All the patients received parenteral Vitamin B12 with good outcome. These results demonstrate the importance of early diagnosis in patients with a potentially serious neuropsychiatric condition as well as of rapid substitution treatment which is the only therapeutic option to secure a good outcome.


Assuntos
Anemia Perniciosa/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Deficiência de Vitamina B 12/complicações , Vitamina B 12/administração & dosagem , Idoso , Anemia Perniciosa/diagnóstico , Anemia Perniciosa/etiologia , Eletroencefalografia/métodos , Eletromiografia/métodos , Potenciais Evocados Visuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/etiologia , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/epidemiologia , Doenças do Nervo Óptico/etiologia , Estudos Retrospectivos , Fatores de Tempo , Deficiência de Vitamina B 12/diagnóstico
11.
BMJ Case Rep ; 12(5)2019 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-31092497

RESUMO

Cobalamin (vitamin B12) deficiency often manifests with neurologic symptoms and may rarely mimic multiple sclerosis (MS) among other neurological disorders. However, MRI changes associated with cobalamin deficiency are typically spinal predominant and distinct from MS-related changes. We report a case of a patient with cobalamin deficiency who was recommended by her primary neurologist to commence treatment with ocrelizumab, a potent anti-CD20 B-cell depleting monoclonal antibody, after being diagnosed with primary progressive MS. However, cervical spine MRI demonstrated changes classical of cobalamin deficiency including 'inverted V sign' signal hyperintensity and following parenteral cobalamin supplementation her neurological symptoms quickly and dramatically improved.


Assuntos
Esclerose Múltipla/diagnóstico , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico , Vitamina B 12/administração & dosagem , Complexo Vitamínico B/administração & dosagem , Idoso , Anticorpos Monoclonais Humanizados/administração & dosagem , Anticorpos Monoclonais Humanizados/efeitos adversos , Medula Cervical/diagnóstico por imagem , Erros de Diagnóstico , Feminino , Humanos , Fatores Imunológicos/administração & dosagem , Fatores Imunológicos/efeitos adversos , Fatores Imunológicos/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Deficiência de Vitamina B 12/sangue
13.
Ter Arkh ; 91(4): 122-129, 2019 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-31094486

RESUMO

The review discusses thesteps of vitamin B12 metabolism and its role in maintaining of neurological functions. The term "vitamin B12 (cobalamin)" refers to several substances (cobalamins) of a very similar structure. Cobalamin enters the body with animal products. On the peripherу cobalamin circulates only in binding with proteins transcobalamin I and II (complex cobalamin-transcobalamin II is designated as "holotranscobalamin"). Holotranscobalamin is absorbed by different cells, whereas transcobalamin I-binded vitamin B12 - only by liver and kidneys. Two forms of cobalamin were identified as coenzymes of cellular reactions which are methylcobalamin (in cytoplasm) and hydroxyadenosylcobalamin (in mitochondria). The main causes of cobalamin deficiency are related to inadequate intake of animal products, autoimmune gastritis, pancreatic insufficiency, terminal ileum disease, syndrome of intestinal bacterial overgrowth. Relative deficiency may be seen in excessive binding of vitamin B12 to transcobalamin I. Cobalamin deficiency most significantly affects functions of blood, nervous system and inflammatory response. Anemia occurs in 13-15% of cases; macrocytosis is an early sign. The average size of neutrophils and monocytes is the most sensitive marker of megaloblastic hematopoiesis. The demands in vitamin B12 are particularly high in nervous tissue. Hypovitaminosis is accompanied by pathological lesions both in white and gray brain matter. Several types of neurological manifestations are described: subacute combined degeneration of spinal cord (funicular myelinosis), sensomotor polyneuropathy, optic nerve neuropathy, cognitive disorders. The whole range of neuropsychiatric disorders with vitamin B12 deficiency has not been studied well enough. Due to certain diagnostic difficulties they are often regarded as "cryptogenic", "reactive", "vascular¼ origin. Normal or decreased total plasma cobalamin level could not a reliable marker of vitamin deficiency. In difficult cases the content of holotranscobalamin, methylmalonic acid / homocysteine, and folate in the blood serum should be investigated besides carefully analysis of clinical manifestations.


Assuntos
Deficiência de Vitaminas/complicações , Doenças do Sistema Nervoso/etiologia , Complexo Vitamínico B/metabolismo , Animais , Biomarcadores , Transcobalaminas , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/etiologia , Deficiência de Vitamina B 12/terapia
14.
World Neurosurg ; 128: 277-283, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31082549

RESUMO

BACKGROUND: This study aimed to report the case of a patient who presented with depression, cognitive impairment, ataxic gait, and urinary incontinence associated with vitamin B12 deficiency. CASE DESCRIPTION: Serum vitamin B12 level was low in this patient, and anti-intrinsic factor antibody was positive. Neuroimaging revealed abnormal hyperintense signals in the cerebellum and dorsal and lateral columns of the spinal cord, and obstructive hydrocephalus. A biopsy of the stomach revealed chronic gastritis, intestinal metaplasia, and atrophy. After 3 months of initiating methylcobalamin therapy, significant improvement was noticed clinically, and brain magnetic resonance imaging was near to normal. CONCLUSIONS: This study was novel in reporting subacute combined degeneration of the spinal cord and hydrocephalus associated with vitamin B12 deficiency in adults.


Assuntos
Hidrocefalia/diagnóstico por imagem , Degeneração Combinada Subaguda/diagnóstico por imagem , Deficiência de Vitamina B 12/diagnóstico , Adulto , Gastrite Atrófica/complicações , Gastrite Atrófica/imunologia , Gastrite Atrófica/patologia , Humanos , Hidrocefalia/etiologia , Hidrocefalia/fisiopatologia , Fator Intrínseco/imunologia , Masculino , Degeneração Combinada Subaguda/etiologia , Degeneração Combinada Subaguda/fisiopatologia , Vitamina B 12/análogos & derivados , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/tratamento farmacológico , Deficiência de Vitamina B 12/etiologia , Deficiência de Vitamina B 12/fisiopatologia , Complexo Vitamínico B/uso terapêutico
17.
BMJ Case Rep ; 12(3)2019 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-30878964

RESUMO

Carcinoid tumours have the ability to secrete various peptides and bioamines that lead to carcinoid syndrome manifested as cutaneous flushing, diarrhoea, bronchial constriction and cardiac involvement. The deficiencies of vitamins D and B12 have previously been reported in patients with carcinoid tumours presumably due to chronic diarrhoea associated with the carcinoid syndrome. Herein, we chronicle the case of a patient with opioid use disorder who presented with small bowel obstruction that was found to be caused by a midgut carcinoid tumour. Laboratory studies revealed deficiencies of vitamins D and B12 even though he denied diarrhoea and had no other aetiology of deficiencies of these vitamins. Additionally, this paper presents a review of the published medical literature pertaining to clinical features, diagnostic investigations and treatment of intestinal carcinoid tumours and explores possible explanations for the observed deficiencies in these patients.


Assuntos
Carcinoma Neuroendócrino/patologia , Neoplasias do Íleo/patologia , Carcinoma Neuroendócrino/complicações , Carcinoma Neuroendócrino/diagnóstico por imagem , Carcinoma Neuroendócrino/cirurgia , Humanos , Neoplasias do Íleo/complicações , Neoplasias do Íleo/diagnóstico por imagem , Neoplasias do Íleo/cirurgia , Laparotomia , Masculino , Pessoa de Meia-Idade , Transtornos Relacionados ao Uso de Opioides/complicações , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/diagnóstico
18.
J Nutr Sci ; 8: e7, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30828450

RESUMO

Studies on the nutritional status of vegetarians in Spain are lacking. Prevention of vitamin B12 deficiency is the main concern, as dietary sources are of animal origin. The present study aimed to evaluate vitamin B12 and folate status of Spanish vegetarians using classical markers and functional markers. Participants were adult and healthy lacto-ovo vegetarians (forty-nine subjects) and vegans (fifty-four subjects) who underwent blood analyses and completed a FFQ. Serum vitamin B12, homocysteine (Hcy), methylmalonic acid (MMA), erythrocyte folate and haematological parameters were determined. The effects of the type of plant-based diet, and the intake of supplements and foods were studied by a FFQ. Mean erythrocyte folate was 1704 (sd 609) nmol/l. Clinical or subclinical vitamin B12 deficiency was detected in 11 % of the subjects (MMA>271 nmol/l) and 33 % of the participants showed hyperhomocysteinaemia (Hcy>15 µmol/l). Regarding plant-based diet type, significantly higher Hcy was observed in lacto-ovo vegetarians compared with vegans (P = 0·019). Moreover, use of vitamin B12 supplements involved an improvement of vitamin B12 status but further increase in erythrocyte folate (P = 0·024). Consumption of yoghurts was weakly associated with serum vitamin B12 adequacy (P = 0·049) and that of eggs with lower Hcy (P = 0·030). In conclusion, Spanish vegetarians present high folate status but vitamin B12 subclinical deficiency was demonstrated using functional markers. The lack of influence of dietary sources on functional markers and the strong effect of vitamin B12 supplement intake emphasise the need of cobalamin supplementation in both lacto-ovo vegetarians and vegans.


Assuntos
Biomarcadores/sangue , Dieta Vegana , Ácido Fólico/sangue , Estado Nutricional , Vegetarianos , Vitamina B 12/sangue , Adulto , Estudos Transversais , Dieta Vegetariana , Suplementos Nutricionais , Feminino , Homocisteína/sangue , Humanos , Hiper-Homocisteinemia/sangue , Masculino , Ácido Metilmalônico/sangue , Pessoa de Meia-Idade , Espanha , Veganos , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/epidemiologia , Adulto Jovem
19.
Nutrients ; 11(2)2019 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-30795564

RESUMO

Vitamin B12 deficiency is a common complication in patients after gastrectomy. Elevated methylmalonic acid (MMA) and homocysteine are better indications of vitamin B12 deficiency than vitamin B12 serum level. We compared MMA and homocysteine levels of patients with gastric cancer after gastrectomy (n = 151) with controls (n = 142) and evaluated the prevalence of vitamin B12 deficiency using MMA and homocysteine in patients. MMA and homocysteine levels were significantly higher (p < 0.05) in patients with gastric cancer after gastrectomy. Of the 151 patients assessed after gastrectomy, 32 patients (21.2%) were vitamin B12 deficient as defined by serum MMA levels > 350 nmol/L, and 8 patients (5.3%) were vitamin B12 deficient as defined by serum homocysteine levels > 15 µmol/L. Both MMA and homocysteine levels were elevated in 7 patients. Among 33 patients with elevated MMA or homocysteine levels, 8 patients (24.2%) were vitamin B12 deficient based on a serum vitamin B12 level < 200 pg/mL. Additionally, levels of MMA and homocysteine were compared pre- and post-gastrectomy in 27 patients. The median MMA level was higher in patients with post-gastrectomy compared to pre-gastrectomy, while the median serum homocysteine level was not significantly different. These results indicate that using serum vitamin B12 levels alone may fail to detect vitamin B12 deficiency. Additional assessments of MMA and homocysteine levels are useful to evaluate possible vitamin B12 deficiency in patients who underwent a gastrectomy, and MMA is a better indicator than homocysteine to detect early changes in vitamin B12 levels.


Assuntos
Gastrectomia/efeitos adversos , Homocisteína/sangue , Ácido Metilmalônico/sangue , Complicações Pós-Operatórias/sangue , Neoplasias Gástricas/cirurgia , Deficiência de Vitamina B 12/diagnóstico , Vitamina B 12/sangue , Adulto , Idoso , Biomarcadores/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/etiologia
20.
BMJ Open ; 9(1): e026564, 2019 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-30670531

RESUMO

OBJECTIVE: We sought to assess the current magnitude of the opportunity for secondary stroke prevention with B vitamins. DESIGN: A cohort study. SETTING: The Urgent TIA (Transient Ischaemic Attack) Clinic at an academic medical centre. MAIN OUTCOME MEASURES: We assessed the prevalence of biochemical vitamin B12 deficiency (B12Def, serum B12 <156 pmol/L), hyperhomocysteinaemia (HHcy; plasma total homocysteine [tHcy] >14 µmol/L) and metabolic B12 deficiency (MetB12Def, serum B12 <258 pmol/L and HHcy) between 2002 and 2017, by age group and by stroke subtype. RESULTS: Data were available in 4055 patients. B12Def was present in 8.2% of patients overall; it declined from 10.9% of patients referred before 2009 to 5.4% thereafter (p=0.0001). MetB12Def was present in 10.6% of patients, and HHcy was present in 19.1% of patients. Among the patients aged ≥80 years, MetB12Def was present in 18.1% and HHcy in 35%. Among the 3410 patients whose stroke subtype was determined, HHcy was present in 18.4% of patients: 23.3% of large artery atherosclerosis, 18.1% of cardioembolic, 16.3% of small vessel disease, 10.8% of other unusual aetiologies and 13.6% of undetermined subtypes (p=0.0001). CONCLUSIONS: Despite a decline in our referral area since 2009, B12Def, MetB12Def and HHcy remain common in patients with stroke/TIA. Because these conditions are easily treated and have serious consequences, all patients with stroke/TIA should have their serum B12 and tHcy measured.


Assuntos
Homocisteína/sangue , Hiper-Homocisteinemia/diagnóstico , Ataque Isquêmico Transitório/sangue , Acidente Vascular Cerebral/sangue , Deficiência de Vitamina B 12/diagnóstico , Centros Médicos Acadêmicos , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Suplementos Nutricionais , Feminino , Humanos , Hiper-Homocisteinemia/epidemiologia , Ataque Isquêmico Transitório/epidemiologia , Masculino , Pessoa de Meia-Idade , Ontário/epidemiologia , Prevenção Secundária , Acidente Vascular Cerebral/epidemiologia , Vitamina B 12/sangue , Deficiência de Vitamina B 12/epidemiologia
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