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Resumen La gastritis autoinmune (GAI) es una afección inflamatoria progresiva de la mucosa oxíntica caracterizada por la destrucción de células parietales, pérdida de factor intrínseco, malabsorción de vitamina B12 (cobalamina), hierro y otros micronutrientes y puede progresar hacia un estado avanzado de anemia megaloblástica conocida como anemia perniciosa (AP). El objetivo de este estudio fue determinar la deficiencia de vitamina B12 debida a malabsorción utilizando la detección de anticuerpos anti-células parietales gástricas (ACPG) y anti-factor intrínseco (AFI). Se analizaron 2050 sueros de pacientes con un inmunoanálisis quimioluminiscente para vitamina B12 total y 2,8% de éstos con las pruebas de inmunofluorescencia indirecta para ACPG y enzimoinmunoanálisis para AFI. La deficiencia de vitamina B12 (<200 ng/mL) fue del 13,1%. En la detección de anticuerpos se encontró: 2 doble positivos ACPG/AFI, 17 simple positivos ACPG y 4 simple positivos AFI. Todas las muestras ACPG y/o AFI positivas tuvieron valores de vitamina B12 total <200 ng/mL. En 5 pacientes con ACPG positivos se diagnosticó gastritis crónica confirmada por biopsia. En los 6 pacientes AFI positivos se realizó el diagnóstico de AP y en 2 de ellos se confirmó por histopatología. La positividad de ACPG y/o AFI permitió la clasificación de pacientes con sospecha de GAI en candidatos para la examinación histológica y la aplicación de esquemas terapéuticos adecuados. Se destaca la importancia de las pruebas de laboratorio como parte de una estrategia de diagnóstico temprano y vigilancia endoscópica, para evitar las manifestaciones relacionadas con la deficiencia de hierro y vitamina B12 y las complicaciones de la enfermedad avanzada.
Abstract Autoimmune gastritis (AIG) is a progressive inflammatory condition of the oxyntic mucosa, characterised by gastric parietal cell destruction, loss of intrinsic factor, and malabsorption of vitamin B12 (cobalamin), iron and other micronutrients; conditioning progress to a state of megaloblastic anemia known as pernicious anemia (PA). The aim of this study was to determine vitamin B12 deficiency due to malabsorption utilizing anti-parietal cell (APCA) and anti-intrinsic factor (IFA) antibodies detection. 2050 patient serum samples were analised by chemiluminescent immunoassay for vitamin B12. A total of 2.8% of them were tested for APCA by indirect immunofluorescence and for IFA by enzyme immunoessay. Vitamin B12 deficiency (<200 ng/mL) was 13.1%. Regarding antibody detection: 2 APCA/IFA double positives, 17 APCA simple positives and 4 IFA simple positives were found. APCA and/or IFA positive samples had total vitamin B12 values <200 ng/mL. Chronic gastritis confirmed by biopsy was diagnosed in 5 patients with positive ACPG antibodies. All 6 IFA positive patients were diagnosed with PA, while 2 of them also received histopatologic confirmation. APCA and/or IFA confirmation allowed for the classification of patients with suspicion of AIG as possible candidates for histologic examination and application of appropriate therapeutic schemes. Importance of laboratory testing is to be noted; as part of a strategy that enables early diagnosis and adequate endoscopic surveillance, to avoid manifestations related to iron and vitamin B12 deficiency and the complications of advanced disease.
Resumo A gastrite autoimune (GAI) é uma doença inflamatória progressiva da mucosa oxíntica, caracterizada pela destruição das células parietais gástricas, perda do fator intrínseco, má absorção de vitamina B12 (cobalamina), ferro e outros micronutrientes pode progredir para um estado avançado de anemia megaloblástica conhecida como anemia perniciosa (AP). O objetivo deste estudo foi determinar a deficiência de vitamina B12 por má absorção usando a detecção de anticorpos anti-células parietais gástricas (ACPG) e anti-fator intrínseco (AFI). Foram analisados 2050 soros de pacientes com um imunoensaio quimioluminiscente para vitamina B12 total, 2,8% deles com testes de imunofluorescência indireta para ACPG e enzimaimunoensaio para AFI. A deficiência de vitamina B12 (<200 ng/mL) foi de 13,1%. Na detecção de anticorpos foram encontrados: 2 duplo positivos ACPG/AFI, 17 simples positivos ACPG e 4 simples positivos AFI. Todas as amostras ACPG e/ou AFI positivas apresentaram valores de vitamina B12 total <200 ng/mL. Gastrite crônica confirmada por biópsia foi diagnosticada em 5 pacientes positivos para ACPG. Nos 6 pacientes AFI positivos o diagnóstico de AP foi feito e em 2 deles foi confirmado por histopatologia. A positividade para ACPG e/ou AFI permitiu a classificação de pacientes com suspeita de GAI em candidatos para exame histológico e a aplicação de esquemas terapêuticos adequados. Destaca-se a importancia dos testes laboratoriais, como parte de uma estratégia de diagnóstico precoce e vigilância endoscópica, para evitar manifestações relacionadas à deficiência de ferro e vitamina B12 e complicações da doença avançada.
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Objetivo: evaluar la prevalencia del déficit de vitamina B12 en mujeres cursando puerperio inmediato. Material y método: estudio observacional descriptivo de captación prospectiva de la cohorte en estudio. Muestra de 133 mujeres cursando el tercer trimestre de embarazo en la maternidad del Centro Hospitalario Pereira Rossell (CHPR), Montevideo, Uruguay, entre setiembre de 2021 y octubre de 2022. Se obtuvieron muestras de sangre materna en el puerperio inmediato por punción venosa periférica. Estas muestras fueron procesadas mediante inmunoensayo de electroquimioluminiscencia. Además, se aplicó una entrevista para la evaluación de los hábitos nutricionales. Resultados: todas las pacientes reportaron tener una dieta omnívora, excepto una, que manifestó llevar una dieta vegana y recibía suplementación diaria de vitamina B12. El 75,9% de la muestra del estudio presentó un nivel socioeconómico bajo, puntuado según el cuestionario de medición de nivel socioeconómico del INSE (Índice de nivel socioeconómico, 2018 - Cámara de Empresas de Investigación Social y Mercado del Uruguay, CEISMU). Se registró una prevalencia de déficit de vitamina B12 de 39,10% (n: 52). Conclusiones: a pesar de que esta muestra de embarazadas presenta una dieta omnívora, se detectó una elevada prevalencia de déficit de vitamina B12. Dada la importancia de esta vitamina en la salud materna, fetal y neonatal, se deberían considerar políticas de salud pública de prevención de la deficiencia tanto en embarazadas como en madres lactantes.
Objective: To assess the prevalence of vitamin B12 deficiency in women during the immediate postpartum period. Method: Descriptive observational study with prospective cohort recruitment, involving a sample of 133 women in their third trimester of pregnancy at the Maternity Department of the Pereira Rossell Hospital Center (CHPR) in Montevideo, Uruguay, between September 2021 and October 2022. Maternal blood samples were obtained during the immediate postpartum period through peripheral venous puncture. These samples were processed using electrochemiluminescence (ECL) immunoassay. Additionally, a nutritional interview was conducted to assess dietary habits. Results: All patients reported following an omnivorous diet, except for one who reported following a vegan diet and received daily vitamin B12 supplementation. Seventy-five point nine percent (75.9%) of the study sample exhibited a low socioeconomic status as determined by the Socioeconomic Level Measurement Questionnaire of the INSE (Socioeconomic Level Index, 2018 - CEISMU, Uruguay). Resulting in a vitamin B12 deficiency prevalence of 39.10% (n: 52). Conclusions: Despite the fact that this sample of pregnant women maintains an omnivorous diet, a high prevalence of vitamin B12 deficiency was detected. Given the significance of vitamin B12 for maternal, fetal, and neonatal health, public health policies for preventing deficiency should be considered for both pregnant women and lactating mothers.
Objetivos: Avaliar a prevalência da deficiência de vitamina B12 em mulheres durante o pós-parto imediato. Métodos: Estudo observacional descritivo de recrutamento prospectivo da coorte em estudo; amostra com 133 mulheres no terceiro trimestre de gravidez na maternidade do Centro Hospitalar Pereira Rossell (CHPR), em Montevidéu Uruguai, entre setembro de 2021 e outubro de 2022. As amostras de sangue materno foram obtidas no pós-parto imediato por punção venosa periférica que foram processadas por imunoensaio eletroquimioluminescente. Além disso, foi realizada uma entrevista nutricional para avaliar hábitos nutricionais. Resultados: Todas as pacientes relataram ter dieta onívora, exceto uma que relatou ter dieta vegana e receber suplementação diária de vitamina B12. 75,9% da amostra apresentou baixo nível socioeconômico de acordo com o Questionário de Medição do Nível Socioeconômico do INSE (Índice de Nível Socioeconômico, 2018 - CEISMU, Uruguai). Uma prevalência de deficiência de vitamina B12 de 39,10% (n: 52) foi registrada. Conclusões: Embora esta amostra de gestantes tenha dieta onívora, uma alta prevalência de deficiência de vitamina B12 foi detectada. Dada a importância da vitamina B12 na saúde materna, fetal e neonatal, devem ser consideradas políticas de saúde pública para prevenir a deficiência tanto em mães grávidas como em lactantes.
Subject(s)
Vitamin B 12 Deficiency , Prevalence , Postpartum Period , Uruguay/epidemiology , Epidemiology, Descriptive , Observational StudyABSTRACT
La anemia megaloblástica pertenece al subgrupo de anemias carenciales. Con el objetivo de describir el efecto del déficit de vitaminas B9 y B12 en la génesis de la anemia megaloblástica se realizó la presente investigación. La anemia megaloblástica se presenta cuando los niveles de ácido fólico (Vitamina B9) y cianocobalamina (vitamina B12) son bajos, generando así una disminución en la capacidad celular de sintetizar ácido desoxirribonucleico, lo que ocasiona alteraciones hematológicas en todas las líneas celulares de la médula ósea (eritrocitos y plaquetas), principalmente provocando la generación de hematíes de gran tamaño y con baja concentración de hemoglobina. Las vitaminas B9 y B12 participan en la síntesis normal de ácidos nucleicos, implicándose directamente en la síntesis de purinas y pirimidinas, así como la maduración celular. El déficit de estas vitaminas tiene efecto sobre el funcionamiento del sistema nervioso central.
Megaloblastic anemia belongs to the subgroup of deficiency anemias. With the objective of describing the effect of B9 and B12 vitamins deficiency on the genesis of megaloblastic anemia, this research was carried out. Megaloblastic anemia occurs when the levels of folic acid (Vitamin B9) and cyanocobalamin (vitamin B12) are low, thus generating a decrease in the cellular capacity to synthesize deoxyribonucleic acid, which causes hematological alterations in all cell lines of the marrow bone (erythrocytes and platelets), mainly causing the generation of large red blood cells with low hemoglobin concentration. Vitamins B9 and B12 participate in the normal synthesis of nucleic acids, being directly involved in the synthesis of purines and pyrimidines, as well as cell maturation. The deficiency of these vitamins has an effect on the central nervous system functioning.
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Introduction: Stroke is a major cause of morbidity and mortality worldwide, with hemorrhagic stroke being the deadliest form of acute stroke. Therefore, the cause of the event should be determined to direct the associated therapy and take preventive measures. Hyperhomocysteinemia has been described as a rare etiology of stroke. Although hyperhomocysteinemia has been associated with venous thrombotic events, altered endothelial function, and procoagulant states, its clinical role in stroke remains controversial. Case description: We present a case of a 60-year-old male patient with primary autoimmune hypothyroidism who presented with dysarthria, facial paresis, and left upper-limb monoparesis after sexual intercourse. A simple skull computed tomography scan showed hyperintensity in the right basal ganglion, indicating an acute hemorrhagic event. Etiological studies were performed, including ambulatory blood pressure monitoring, cerebral angiography, and transthoracic echocardiogram, which ruled out underlying vascular pathology. During follow-up, vitamin B12 deficiency and hyperhomocysteinemia were detected, without other blood biochemical profile alterations. Supplementation was initiated, and homocysteine levels gradually decreased, without new neurological deficits observed during follow-up. Conclusion: Quantification of homocysteine should be considered in patients with a cerebrovascular disease without apparent cause, as documenting hyperhomocysteinemia and correcting its underlying etiology are essential not only for providing appropriate management but also for preventing future events.
Introducción: el accidente cerebrovascular es una causa importante de morbilidad y mortalidad en todo el mundo, y el accidente cerebrovascular hemorrágico es la forma más mortífera de accidente cerebro- vascular agudo. La determinación de la causa del evento es esencial para dirigir la terapia asociada y poder tomar medidas preventivas. La hiperhomocisteinemia se ha descrito como una etiología poco frecuente de accidente cerebrovascular. Aunque esta se ha asociado con eventos trombóticos venosos, disfunción endotelial alterada y estados procoagulantes, sigue siendo controvertido su papel clínico en el accidente cerebrovascular. Descripción del caso: se presenta el caso de un hombre de 60 años con hipotiroidismo autoinmune primario que presentó disartria, paresia facial y monoparesia del miembro superior izquierdo después de un encuentro sexual. Una simple tomografía computarizada de cráneo mostró hipointensidad en la región del ganglio basal derecho, que indicaba un evento hemorrágico agudo. Se realizaron estudios etiológicos, incluyendo monitorización ambulatoria de la presión arterial, angiografía cerebral y ecocardiograma transtorácico, que descartaron patología vascular subyacente. Durante el seguimiento, se detectó deficiencia de vitamina B12 e hiperhomocisteinemia, sin otras alteraciones en el perfil bioquímico sanguíneo. Se inició la suplementación y los niveles de homocisteína disminuyeron gradualmente, sin observar nuevos déficits neurológicos durante el seguimiento. Conclusión: la cuantificación de homocisteína debe ser considerada en casos de enfermedad cerebrovascular sin causa aparente, dado que documentar la hiperhomocisteinemia y corregir su etiología subyacente es esencial no solo para proporcionar un manejo adecuado, sino también para prevenir eventos futuros.
Introdução: o acidente vascular cerebral (AVC) é uma das principais causas de morbidade e mortalidade em todo o mundo, sendo o AVC hemorrágico a forma mais letal de AVC agudo. A determinação da causa do evento é essencial para direcionar a terapia associada e poder tomar medidas preventivas. A hiperhomocisteinemia tem sido descrita como uma etiologia rara de acidente vascular cerebral. Embora a hiper-homocisteinemia tenha sido associada a eventos trombóticos venosos, disfunção endotelial alterada e estados pró-coagulantes, seu papel clínico no AVC permanece controverso. Descrição do caso: apresentamos o caso de um homem de 60 anos com hipotireoidismo autoimune primário que apresentou disartria, paresia facial e monoparesia do membro superior esquerdo após relação sexual. A tomografia computadorizada de crânio mostrou hipointensidade na região do gânglio da base direito, indicando evento hemorrágico agudo. Foram realizados estudos etiológicos, incluindo monitorização ambulatorial da pressão arterial, angiografia cerebral e ecocardiograma transtorácico, que descartaram patologia vascular subjacente. Durante o acompanhamento, foram detectados deficiência de vitamina B12 e hiper-homocistei- nemia, sem outras alterações no perfil bioquímico sanguíneo. A suplementação foi iniciada e os níveis de homocisteína diminuíram gradualmente, sem novos déficits neurológicos observados durante o acompanhamento. Conclusão: a quantificação da homocisteína deve ser considerada em casos de doença vascular cerebral sem causa aparente, pois documentar a hiper-homocisteinemia e corrigir sua etiologia subjacente é essencial não apenas para fornecer manejo adequado, mas também para prevenir eventos futuros.
Subject(s)
HumansABSTRACT
Introducción: La degeneración combinada subaguda (DCS) es un trastorno caracterizado por la degeneración difusa de la sustancia blanca a nivel del SNC, que afecta específicamente los cordones posteriores y laterales de la médula espinal, con pérdida de la mielinización periférica y central. De manera frecuente, las manifestaciones clínicas son parestesias y debilidad generalizada causada por deficiencia de vitamina B12. Presentación del caso: Paciente masculino de 79 años, con cuadro clínico de 3 meses de evolución de limitación funcional para la marcha acompañado de desorientación. Al examen físico evidenció desorientación, cuadriparesia e hiporreflexia, con niveles séricos bajos de vitamina B12, RM cervical con focos hiperintensos en el segmento C3/C6 y endoscopia de vías digestivas altas con atrofia de la mucosa gástrica. Presentamos un caso clínico de DCS. Discusión: Este es un caso de DCS que se manifiesta por medio de una alteración neuropsiquiátrica, con una presentación inicial inespecífica que comprende deterioro de la marcha, movimientos anormales con afectación cognitiva y psiquiátrica dada por alucinaciones visuales y desorientación. Su sospecha es importante en pacientes con factores de riesgo por medio del conocimiento de la patología, para una adecuada sospecha diagnóstica y una instauración oportuna de reposición vitamínica, la cual presenta una excelente respuesta. Conclusión: La DCS es un trastorno en el que se evidencia anemia con deficiencia de vitamina B12, des-mielinización del tejido nervioso y en muchos casos signos sugestivos de atrofia gástrica, y para ello es crucial la detección temprana de esta enfermedad por medio de la determinación de niveles séricos de vitamina B12, asociado a síntomas neurológicos, para así lograr su adecuado diagnóstico y tratamiento.
Introduction: Subacute combined degeneration (DCS) is a disorder characterized by diffuse degeneration of white matter at the CNS level, specifically affecting the posterior and lateral cords of the spinal cord, also with loss of peripheral and central myelination, frequently the clinical manifestations are paresthesias and generalized weakness caused by vitamin B12 deficiency. Case presentation: A 79-year-old male patient with a 3-month history of functional limitation for walking accompanied by disorientation. On physical examination, he revealed disorientation, quadriparesis, and hyporeflexia, with low serum levels of vitamin B12, cervical MRI with hyperintense foci in segment C3/C6, and upper digestive tract endoscopy with atrophy of the gastric mucosa. We present a clinical case of DCS. Discussion: This is a case of DCS that manifests itself through neuropsychiatric alteration with a nonspecific initial presentation with gait impairment, abnormal movements with cognitive and psychiatric affectation given by visual hallucinations and disorientation. Its suspicion is important in patients with risk factors. risk through knowledge of the pathology for an adequate diagnostic suspicion and a timely establishment of vitamin replacement for which it presents an excellent response. Conclusion: DCS is a disorder where anemia with vitamin B12 deficiency, demyelination of the nervous tissue and in many cases signs suggestive of gastric atrophy are evident, for which early detection of this disease is crucial through the determination of serum levels of vitamin B12 associated with neurological symptoms, in order to achieve its proper diagnosis and treatment.
Subject(s)
Vitamin B 12 Deficiency , Anemia , Methylmalonic Acid , Muscle Weakness , Subacute Combined Degeneration , Intrinsic FactorABSTRACT
Introduction: Megaloblastic anemias secondary to Vitamin B12 deficiency are a group of pathologies produced by defective nuclear DNA synthesis. Objective: To describe the maturation alterations found in hematopoietic precursors of the bone marrow in a series of patients with megaloblastic anemia. Methods: Were included patients attended at the Regional Hospital of Concepción with bone marrow samples sent for the study of cytopenia by flow cytometry whose final diagnosis was megaloblastic anemia. The immunophenotype was performed with CD45, CD34, CD117, HLA-DR, markers of neutrophil (CD13, CD11b, CD10, CD16) and/or erythroblast (CD105, CD71, CD36) maturation. Results: From the flow cytometry laboratory database, 8 patients with megaloblastic anemia were identified, and myelodysplastic syndromes (n=9) and normal or reactive bone marrow (n=10) were used as controls. 44% were men, with a median age of 58 years. Megaloblastic anemia was associated with a higher proportion of size and complexity of erythroid and myeloid progenitors compared to lymphocytes compared to controls. The total percentage of erythroblasts and the proportion of CD34+ myeloid cells associated with erythroid lineage was higher in megaloblastic anemia, associated with a maturation arrest in the CD105+ precursor stage (69% vs 19% and 23%, p<0.001). The heterogeneity of CD36 and CD71 in megaloblastic anemia was similar to myelodysplastic syndromes. Conclusions: Megaloblastic anemia produces a heterogeneous involvement of hematopoiesis, characterized by a greater size and cellular complexity of precursors of the neutrophil and erythroid series and a maturation arrest of the erythroblasts.
Introducción: Anemias megaloblásticas secundarias a la deficiencia de vitamina B12 son patologías producidas por una síntesis defectuosa del ADN nuclear. Objetivo: Describir las alteraciones madurativas encontradas en precursores hematopoyéticos de la médula ósea de una serie de pacientes con anemia megaloblástica. Métodos: Se incluyeron pacientes atendidos en el Hospital Regional de Concepción con muestras de médula ósea enviadas para estudio de citopenias por citometría de flujo cuyo diagnóstico fue anemia megaloblástica. El inmunofenotipo se realizó con CD45, CD34, CD117, HLA-DR, marcadores de maduración de serie de neutrófilo (CD13, CD11b, CD10, CD16) y/o eritroblasto (CD105, CD71, CD36). Resultados: Se identificaron 8 pacientes con anemia megaloblástica y como controles se utilizaron síndromes mielodisplásicos (n=9) y médula ósea normal o reactiva (n=10). El 44% eran hombres, con una mediana de edad de 58 años. La anemia megaloblástica se asoció con una mayor proporción de tamaño y complejidad de progenitores eritroides y mieloides con respecto de los linfocitos en comparación a los controles. El porcentaje total de eritroblastos y la proporción de células mieloides CD34+ comprometidas con el linaje eritroide fue mayor en anemia megaloblástica, asociado a una parada madurativa en la etapa de precursor CD105+ (69% vs 19% y 23%, p <0.001). La heterogeneidad de CD36 y CD71 en anemia megaloblástica fue similar a los síndromes mielodisplásicos. Conclusiones: la anemia megaloblástica produce una afectación heterogénea de la hematopoyesis, caracterizada por un mayor tamaño y complejidad celulares de precursores de la serie neutrófilo y eritroide y una detención madurativa de los eritroblastos.
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We present the case of a 16-year-old boy with hemolytic anemia with investigations showing pancytopenia, which turned out to be due to B12 deficiency. Whenever we see a teenager presenting with pancytopenia, the common causes that we think of are hematologic malignancies, drug-induced cytopenias, hypersplenism, etc. Anemia as a presentation is common in B12 deficiency, yet its occurrence with jaundice is a very uncommon and easily overlooked presentation. The same is the case of B12 presenting as pancytopenia which is a well-described entity, yet omitted initially due to its uncommon nature in this modern developed world.
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Papilledema is defined as optic disc swelling that is secondary to elevated intracranial pressure. Vision is usually well preserved with this condition. The optic discs appear blurred in papilledema. Elevation in intracranial pressure is due to variety of reasons of which intracranial hemorrhageis the most common. We present a case in which our patient developed papilledema due to vitamin B12 deficiency. Lateral rectus muscle palsy occurs due to abducens nerve palsy. The lateral rectus muscle is responsible for lateral movement of the eyeball, specificallyabduction. Its palsy results in sudden onset of horizontal double vision, which is worse when the patient looks to the affected side. There is also limited outward movement of the affected eye. Abducens nerve palsy can occur due to ischemia injury, stroke, infection, brain tumour, elevated intracranial pressure, or inflammation of the nerve. In our patient the abducens nerve palsy was due to homocysteinemia secondary to dietary vitamin B12 deficiency. Homocysteine is a potent atherosclerotic risk factor and can cause ischemic nerve palsy, as seen in our patient.
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Introducción: La anemia megalobástica es un trastorno madurativo de los precursores eritroides y mieloides causado por déficit de vitamina B12, ácido fólico, o ambos. Es poco común en la infancia y su prevalencia se desconoce por ser una enfermedad poco frecuente. Objetivo: Describir diferentes formas de presentación de la anemia megaloblástica en el lactante. Presentación de casos: Se presentan dos casos de lactantes, en el caso 1 la madre tuvo una alimentación precaria durante el embarazo y la lactancia, prolongó la lactancia materna exclusiva más de 6 meses. La paciente comenzó a perder las habilidades ganadas en el desarrollo psicomotor y presentó trastornos neurológicos graves, por lo que se consideró que se trataba de una enfermedad progresiva del sistema nervioso central. En el caso 2, en el que se prolongó la lactancia materna exclusiva, apareció trombocitopenia, por lo que se sospechó una enfermedad hematológica maligna. Resultados: En ambos casos después de realizar diversas pruebas para descartar enfermedades neurológicas (caso 1) y enfermedades hematológicas (caso 2) se diagnosticó anemia megaloblástica por déficit de vitamina B12 por disminución en la ingesta y una reserva limítrofe en la madre que lacta. En ambos casos los síntomas desaparecieron con el tratamiento vitamínico sustitutivo. Conclusiones: En el lactante la anemia megaloblástica se puede presentar de diferentes formas clínicas a pesar de tener la misma causa, un déficit en la ingesta y una reserva escasa de la madre durante el embarazo y lactancia(AU)
Introduction: Megaloblastic anemia is a maturing disorder of the erythroid and myeloid precursors caused by deficiency of vitamin B12, folic acid, or both. It is uncommon in childhood and its prevalence is unknown because it is a rare disease. Objective: To describe different forms of presentation of megaloblastic anemia in infants. Presentation of cases: Two cases of infants are presented, in case 1 the mother had a precarious diet during pregnancy and lactation, and prolonged exclusive breastfeeding more than 6 months. The patient began to lose the skills gained in psychomotor development and presented severe neurological disorders, so it was considered that it was a progressive disease of the central nervous system. In case 2, in which exclusive breastfeeding was prolonged, thrombocytopenia appeared, so a malignant hematological disease was suspected. Results: In both cases, after performing various tests to rule out neurological diseases (case 1) and hematological diseases (case 2), megaloblastic anemia was diagnosed due to vitamin B12 deficiency due to a decrease in intake and a borderline reserve in the breastfeeding mother. In both cases the symptoms disappeared with vitamin replacement therapy. Conclusions: In the infant, megaloblastic anemia can occur in different clinical ways despite having the same cause, a deficit in intake and a low reserve of the mother during pregnancy and lactation(AU)
Subject(s)
Female , Infant , Vitamins/therapeutic use , Vitamin B 12 Deficiency , Folic Acid , Hematologic Diseases , Anemia, MegaloblasticABSTRACT
Anemia is the most common extraintestinal manifestation of inflammatory bowel disease (IBD). Although there are several causes of anemia in IBD, the two most frequent etiologies are iron deficiency anemia and anemia of chronic disease. Despite the high prevalence of anemia in IBD and its significant impact on patient's quality of life, this complication is still underdiagnosed and undertreated by providers. Active screening for anemia, structured assessment, comprehensive management, and multidisciplinary collaboration are needed in IBD patients. The cornerstone of anemia management depends on the underlying etiology along with normalization of inflammatory activity. Although, oral iron is effective for the treatment of mild iron deficiency-related anemia, intravenous iron formulations have a good safety profile and can be used as first-line therapy in patients with active IBD, severe anemia and previous intolerance prior to oral iron. After proper treatment of anemia, careful monitoring is necessary to prevent its recurrence. Herein, we discuss the etiology, screening, diagnosis, therapy selection, and follow-up for anemia in IBD.
Subject(s)
Humans , Inflammatory Bowel Diseases/complications , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/etiology , Anemia/complications , Anemia/diagnosis , Quality of Life , Iron/therapeutic useABSTRACT
La metformina es el agente antidiabético oral más utilizado para el tratamiento de la diabetes mellitus tipo 2 (DM2) y se ha descrito la asociación de su uso con el déficit de vitamina B12. Se realizó una revisión narrativa de estudios para conocer la evidencia de dicha asociación, y las recomendaciones para su pesquisa, prevención y tratamiento. La prevalencia informada del déficit de vitamina B12 en los pacientes tratados con metformina osciló entre el 5,8% y el 52% en las diferentes series. Los pacientes de mayor edad, aquellos que reciben metformina a altas dosis y por más tiempo, y los que no consumen alimentos de origen animal, son quienes presentan mayor riesgo de padecer este déficit. Se recomienda la determinación de vitamina B12 cada año en pacientes con DM2 tratados con metformina y la eventual reposición en caso de déficit. Si bien existe consenso sobre el tratamiento del déficit, aún falta evidencia que permita realizar la recomendación sobre el tratamiento preventivo.
Metformin is the most widely used oral antidiabetic agent for the treatment of type 2 diabetes (T2D) and the association of the use of this drug with vitamin B12 deficiency has been described. A review of studies was carried out to find out the evidence of this association and the recommendations for its detection, prevention and treatment. The reported prevalence of vitamin B12 deficiency in patients treated with metformin ranged from 5.8% to 52% in the different series. Older patients, those who received metformin at high doses and for a longer time, and those who do not consume food of animal origin, are those who are at greater risk of suffering from this deficit. The determination of vitamin B12 every 1 year is recommended in patients with T2D treated with metformin, and the eventual replacement in case of deficiency. Although there is consensus on the treatment of the deficit, there is still a lack of evidence to make recommendations on a preventive treatment
Subject(s)
Diabetes Mellitus, Type 2 , Vitamin B 12 , Vitamin B 12 Deficiency , MetforminABSTRACT
Introducción: en los últimos años el incremento de vegetarianos es considerable. Se debe tener cautela al incorporar este tipo de dietas en la población pediátrica. No son contempladas en las actuales guías de nutrición nacionales, generando incertidumbre al realizar recomendaciones. Objetivo: describir los conocimientos sobre dietas vegetarianas en niños por parte de médicos pediatras, posgrados y residentes socios de la Sociedad Uruguaya de Pediatría en el período de junio-setiembre 2020. Determinar la necesidad de incorporar dietas vegetarianas a las guías uruguayas de nutrición pediátrica por parte de los encuestados. Material y método: estudio observacional descriptivo, tipo encuesta transversal, en el período entre junio y setiembre de 2020. Los criterios de inclusión fueron médicos residentes/posgrados en pediatría y pediatras de la Sociedad Uruguaya de Pediatría, de Montevideo y el interior del país. La fuente de datos fue una encuesta online anónima. El análisis de datos fueron frecuencias relativas y absolutas para variables cualitativas. Resultados: se enviaron 1.080 encuestas online, de las que se incluyeron 119. Sobre la autopercepción en el conocimiento de los encuestados, el 58,0% se calificó dentro del rango medio. Acerca del concepto de dieta ovolactovegetariana, 63,9% seleccionó la opción correcta. Más de 50,0% respondió correctamente acerca de conocimientos sobre nutrientes en la mayoría de los ítems. Iniciar estas dietas en la alimentación complementaria fue desaconsejado por el 58% de los socios. Un 79,8% pretende adquirir más conocimientos del tema. Conclusiones: más de la mitad de los profesionales tiene los conocimientos correctos acerca de la correcta planificación y suplementación de dietas vegetarianas en niños. Se destaca la necesidad de incluir dietas vegetarianas en las guías de alimentación pediátrica en territorio uruguayo.
Introduction: the number of vegetarian people has increased considerably in recent years. Caution is suggested when incorporating this type of diet to the pediatric population. This diet has not been contemplated in the current national nutritional guidelines, generating uncertainty among pediatricians when making recommendations. Objective: describe the knowledge Pediatric Physicians and graduate / resident members of the Uruguayan Society of Pediatrics have regarding vegetarian diets in children during the period June-September 2020. Determine the need of the participants of the survey to incorporate vegetarian diet information into the Uruguayan Pediatric Nutritional Guidelines. Materials and methods: descriptive observational study, cross-sectional survey carried out from June to September 2020. The inclusion criteria included resident doctors / postgraduate pediatricians and pediatricians from the Uruguayan Society of Pediatrics of Montevideo and the interior of the country. The data source was an anonymous online survey. The data analyses were relative and absolute frequencies of qualitative variables. Results: 1.080 online surveys were sent and 119 were included. Regarding the respondents' self-perception of knowledge, 58.0% were rated within the medium range. Regarding the concept of lacto-ovo-vegetarian diet, 63.9% selected the correct option. Regarding knowledge about nutrients, we obtained more than 50.0% of correct answers in most of the items. Starting these diets as supplementary food was discouraged by 58% of the participants. 79.8% expressed the intention to acquire more knowledge regarding the subject. Conclusions: more than half of the professionals have the correct knowledge about the correct planning and supplementation of vegetarian diets in children. They stressed the need to include vegetarian diets in pediatric food guidelines in Uruguay.
Introdução: nos últimos anos, o aumento das pessoas vegetarianas tem sido considerável. Deve-se ter cuidado ao incorporar esse tipo de dieta na população pediátrica. Ela não está incluída nas atuais diretrizes nacionais de nutrição, gerando incerteza nos pediatras no momento de fazer recomendações. Objetivo: descrever o conhecimento sobre dietas vegetarianas em crianças dos Pediatras e pós-graduados/residentes da Sociedade Uruguaia de Pediatria no período de junho a setembro de 2020 para poder determinar a necessidade de incorporar dietas vegetarianas às diretrizes nutricionais pediátricas uruguaias. Material e métodos: estudo observacional descritivo, tipo de pesquisa transversal realizada no período de junho a setembro de 2020. Os critérios de inclusão foram médicos residentes/pós-graduados em pediatria e pediatras da Sociedade Uruguaia de Pediatria, Montevidéu e interior do país. A fonte de dados foi uma pesquisa on-line anônima sobre a necessidade de incorporar dietas vegetarianas às diretrizes uruguaias para nutrição pediátrica. As análises dos dados foram frequências relativas e absolutas de variáveis qualitativas. Resultados: 1.080 pesquisas online foram enviadas e 119 foram incluídas. Quanto à autopercepção de conhecimento dos entrevistados, 58,0% foram avaliados dentro da faixa média. Quanto ao conceito de dieta lacto-ovo-vegetariana, 63,9% selecionaram a opção correta. Quanto ao conhecimento sobre nutrientes, obtivemos mais de 50,0% das respostas corretas na maioria dos itens. O início dessas dietas como alimentos suplementares foi desencorajado por 58% dos participantes. 79,8% expressaram a intenção de adquirir mais conhecimento sobre o assunto. Conclusões: mais da metade dos profissionais têm o conhecimento correto sobre o planejamento correto e suplementação de dietas vegetarianas em crianças. Eles enfatizaram a necessidade de incluir dietas vegetarianas nas diretrizes de alimentos pediátricos no Uruguai.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Diet, Vegetarian/methods , Clinical Competence/statistics & numerical data , Pediatricians/education , Vitamin B 12 , Diet Surveys/statistics & numerical data , Iron, Dietary , Dietary Supplements , Eating , Child NutritionABSTRACT
Purpose: To evaluate Vitamin B12 levels in healthcare professionals at a tertiary eyecare centre in India. Methods: This was a cross?sectional study conducted among healthcare professionals working at a tertiary eyecare centre in India. The sample included 2,374 employees. Chemiluminescent immunoassay method (reference range, 211–911 pg/ml) was used to assess serum vitamin B12 levels. Effect of age and gender was analyzed in vitamin B12 normal and vitamin B12 deficient groups. To evaluate risk factors, questions related to vitamin B12 deficiency were asked to the study participants in a survey. Results: The mean age of employees was 29.2 ± 0.7 years. Around 26% of them were vitamin B12 deficient. The proportion of males in the vitamin B12 deficient group (61.2%) was significantly higher (P < 0.0001) than that of the vitamin B12 normal group (44.9%). There was no effect of age on vitamin B12 levels in both vitamin B12 normal and vitamin B12 deficient groups. Mean vitamin B12 levels in males (289.1 ± 22.2 pg/ml) was significantly lower (P < 0.0001) than that of females (338.7 ± 30.0 pg/ml). Conclusion: This is the first such study on eyecare professionals. One?fourth of the eyecare professionals were vitamin B12 deficient. The proportion of males was higher in the vitamin B12 deficiency group. Males had lower vitamin B12 levels than females. Annual blood tests for vitamin B12 are recommended for timely diagnosis and management of vitamin B12 deficiency, particularly in males.
ABSTRACT
La metformina es el agente antidiabético oral más utilizado para el tratamiento de la diabetes mellitus tipo 2 (DM2) y se ha descrito la asociación de su uso con el déficit de vitamina B12. Se realizó una revisión narrativa de estudios para conocer la evidencia de dicha asociación, y las recomendaciones para su pesquisa, prevención y tratamiento. La prevalencia informada del déficit de vitamina B12 en los pacientes tratados con metformina osciló entre el 5,8% y el 52% en las diferentes series. Los pacientes de mayor edad, aquellos que reciben metformina a altas dosis y por más tiempo, y los que no consumen alimentos de origen animal, son quienes presentan mayor riesgo de padecer este déficit. Se recomienda la determinación de vitamina B12 cada año en pacientes con DM2 tratados con metformina y la eventual reposición en caso de déficit. Si bien existe consenso sobre el tratamiento del déficit, aún falta evidencia que permita realizar la recomendación sobre el tratamiento preventivo.
Metformin is the most widely used oral antidiabetic agent for the treatment of type 2 diabetes (T2D) and the association of the use of this drug with vitamin B12 deficiency has been described. A review of studies was carried out to find out the evidence of this association and the recommendations for its detection, prevention and treatment. The reported prevalence of vitamin B12 deficiency in patients treated with metformin ranged from 5.8% to 52% in the different series. Older patients, those who received metformin at high doses and for a longer time, and those who do not consume food of animal origin, are those who are at greater risk of suffering from this deficit. The determination of vitamin B12 every 1 year is recommended in patients with T2D treated with metformin, and the eventual replacement in case of deficiency. Although there is consensus on the treatment of the deficit, there is still a lack of evidence to make recommendations on a preventive treatment.
ABSTRACT
Background:Diabetes mellitus(DM)affecting almost half a billion people worldwide and India is amongst the top ten countries of adults with diabetes. Metformin, the first-line therapy for diabetes, is associated with vitamin B12 malabsorption and subsequently, the development of vitamin B12 deficiency/insufficiency could manifest severe complications like neuropathy or anemia in the future. This study evaluatedthe effect of metformin on vitamin B12 and RBC indices in the North Indian population.Methods:This study was executed at a tertiary care hospital. 35 T2DM(type 2 DM)participants with ongoing metformin therapy were compared with 27 T2DM participants without metformin therapy. Participants were recruited from outpatient after diagnosis as per American diabetes association(ADA)criteria.Results:Metformin-treated participants had significantly low hemoglobin (t=2.096, df=60, 0.0403) compared to untreated participants. Similarly, MCHC was significantly lower in the metformin group (mean=33.28 gm/dl) compared to non-metformin group (mean=34.53 gm/dl) (t=2.745, df=60, p=0.0080). Moreover, there was a strong negative correlation (r=-0.4613, p=0.0053) among vitamin B12 and MCV in metformin group. There was no statistically significant correlation between vitamin B12 and RBC indices (MCV, MCH, MCHC) in the non-metformin group. Analyzing contingency table (Fisher抯 exact test), we found no major difference (p=0.2002) between two groups of vitamin B12 with an odds ratio of 2.026 (95% CI=0.7366 to 5.633). Unpaired ttest also confirmed insignificancy (t=0.04077, df=60, p=0.9676).Conclusions:Strong negative correlation was observed between vitamin B12 and MCV. Despite the insignificant difference of vitamin B12 between metformin and non-metformin groups, significantly lowMCHC was found in metformin-treated participants.
ABSTRACT
Objective:To explore the relationship between vegetarian diets and vitamin B 12 levels in Chinese pregnant women. Methods:A cross-sectional survey was used to explore the relationship between vegetarian diets and vitamin B 12 levels in Chinese pregnant women based on data from the Chinese National Nutrition and Health Surveillance (2015-2017). Maternal serum vitamin B 12 concentration was determined by electrochemiluminescence. Background and diet information of all subjects were collected using general and food frequency questionnaires. General Linear Model was used to analyze the difference in serum vitamin B 12 levels between vegetarian and non-vegetarian pregnant women and multivariate logistic regression for examining the relationship between vegetarian diets and vitamin B 12 deficiency (vitamin B 12<150 pmol/L) in pregnant women. Results:A total of 8 366 pregnant women were included in the analysis, and vegetarians accounted for 1.2% (102/8 366). The median serum vitamin B 12 concentrations were 155.8(93.6-212.4) pmol/L and 187.2(127.4-267.6) pmol/L ( Z=-4.22, P<0.001), and the vitamin B 12 deficiency rates were 48.0% (49/102) and 35.0% (2 896/8 264) in vegetarian and non-vegetarian women, respectively. The vitamin B 12 deficiency rate in vegetarian women was 0.89-fold higher than in non-vegetarians (95% CI: 1.24-2.89). Among the vegetarian and non-vegetarian pregnant women, vitamin B 12 deficiency rates during the first, second, and third trimesters were 34.8%(16/46), 54.3%(19/35), 66.7%(14/21), and 20.4%(521/2 559), 32.6%(941/2 886), 50.9%(1 430/2 807), noting for an increasing trend ( Z=23.54 and 2.57, P=0.010 and P<0.001). Conclusions:Vegetarian pregnant women are at high risk of vitamin B 12 deficiency. Compared with non-vegetarian women, vegetarian pregnant women in China have lower vitamin B 12 levels and a higher risk of vitamin B 12 deficiency. Moreover, the risk of vitamin B 12 deficiency will gradually increase during pregnancy.
ABSTRACT
La seudomicroangiopatía trombótica o síndrome de Moschcowitz es una manifestación infrecuente del déficit de vitamina B12. Se caracteriza por anemia hemolítica con características microangiopáticas, reticulocitos e índices hematimétricos normales o con ligera megaloblastosis, asociados a manifestaciones neurológicas. La vitamina B12 está presente en alimentos proteicos de origen animal. La lactancia materna es una fuente adecuada para los niños cuando los niveles maternos son normales. Se presenta a una paciente de 16 meses que se internó por anemia hemolítica con requerimiento transfusional, plaquetopenia, mal progreso pondoestatural y retraso neuromadurativo. Durante su internación se arribó al diagnóstico de seudomicroangiopatía trombótica secundaria a déficit de vitamina B12.
Pseudo-thrombotic microangiopathy, or Moschcowitz syndrome, is a rare manifestation of vitamin B12 deficiency. It is characterized by microangiopathic hemolytic anemia, reticulocytes, and hematimetric indices that can be normal or that might present a mild megaloblastosis, and which are associated with neurological manifestations. Vitamin B12 can be found in animal-based protein foods. Breastfeeding is an adequate source of this vitamin for children, when maternal serum levels are normal. The case of a 16-month-old infant is presented. She was admitted for hemolytic anemia with transfusion requirement, thrombocytopenia, failure to thrive and developmental delay. During her hospitalization, she was diagnosed with pseudothrombotic microangiopathy caused by vitamin B12 deficiency.
Subject(s)
Humans , Female , Infant , Vitamin B 12 Deficiency/complications , Thrombotic Microangiopathies/diagnosis , Vitamin B 12 Deficiency/therapy , Anemia, Hemolytic/bloodABSTRACT
RESUMEN INTRODUCCIÓN: La ganglionopatía sensitiva es una rara complicación del déficit de vitamina B12, la cual da origen a un espectro de síntomas neurológicos que incluyen alteración de la sensibilidad vibratoria, propiocepción, ataxia y, con menor frecuencia, trastornos del movimiento. La pseudoatetosis es una presentación muy inusual. CASO CLÍNICO: Un paciente masculino de 73 años se presenta con parestesias y torpeza de las cuatro extremidades, dolor tipo urente en plantas de pies y manos, inestabilidad postural y limitación para la marcha. En la exploración neurológica se encuentra hipoestesia y ataxia sensitiva de las cuatro extremidades, con presencia de pseudoatetosis de los miembros superiores como consecuencia de ganglionopatía por déficit de vitamina B12 demostrada por la imagen típica de "V" invertida, debido a compromiso de las proyecciones centrales las neuronas sensitivas mielinizadas en RMN de columna cervicotoráccica. A los cuatro meses se reporta mejoría del déficit propioceptivo y corrección del trastorno de movimiento gracias a la reposición de la cianocobalamina intramuscular. Hasta el momento no se presenta patología neoplásica, autoinmune o infecciosa. CONCLUSIONES: La ganglionopatía sensitiva por déficit de vitamina B12 es una condición potencialmente reversible y subdiagnosticada que puede manifestarse ocasionalmente con trastornos del movimiento. Debe sospecharse en pacientes con déficits sensitivos por compromiso de fibra gruesa. Su pronóstico es favorable si la causa del déficit se documenta tempranamente y se hace reposición de dicha vitamina.
SUMMARY INTRODUCTION: Sensory ganglionopathy is a rare complication of vitamin B12 deficiency, causing an spectrum of neurologic symptoms such as abnormal vibratory sensitivity, proprioception, gait disturbance and rarely movement disorders like pseudoatetosis and dystonia. CLINICAL CASE: A73-year-old man was admitted with numbness and clumsiness of his extremities, burning pain on palms and soles, postural instability and impaired walking. Neurological examination demonstrated hypesthesia and sensory ataxia of four limbs with associated pseudo athetoid movements of the upper limbs as a consequence of ganglionopathy by vitamin B12 deficiency, showing typical MRI inverted "V" sign due to degeneration of central projections from large sensory neurons, which was successfully treated with IM cyanocobalamin 4 months later. CONCLUSIONS: Sensory ganglionopathy in B12 deficit is a potentially reversible and underdiagnosed condition, which occasionally can present with movement disorders. Must be suspected in patiens presenting with sensory deficits depending on richly myelinated axons. Usually with good prognosis after identifying the deficit's cause and giving propper treatment.
Subject(s)
Transit-Oriented DevelopmentABSTRACT
El déficit de vitamina B12 es una de las complicaciones más importantes que puede producir el vegetarianismo. Los lactantes hijos de madres vegetarianas tienen riesgo aumentado de deficiencia y de presentar compromiso neurológico irreversible si esta no se identifica y corrige adecuadamente.Se describe el caso de un lactante de un mes y veinte días que consultó por episodios paroxísticos de mecanismo epileptógeno, en el cual los estudios complementarios permitieron identificar un déficit de vitamina B12 como causa de estos. Tras la confirmación diagnóstica, se instauró el tratamiento con vitamina B12 intramuscular, con remisión completa de los síntomas, buena evolución posterior y desarrollo psicomotor sin alteraciones.Teniendo en cuenta las tendencias alimentarias actuales, es necesario incorporar, en la práctica clínica habitual, la anamnesis nutricional materna detallada para detectar precozmente el riesgo de déficit de esta vitamina y prevenirlo
Vitamin B12 deficiency is one of the main complications of vegetarianism. Infants of vegetarian mothers have greater risk of deficiency and irreversible neurological compromise if deficiency is not identified and treated. We describe the case of a 1 month 20 days-old infant who consulted due to paroxysmal episodes of epileptogenic mechanism; laboratory tests identified a deficiency in vitamin B12 as the cause. After confirmation of diagnosis, treatment with intramuscular vitamin B12 was established with full remission of symptoms, good evolution and psychomotor development without alterations.Considering current alimentary trends, it is necessary to include a detailed maternal nutritional anamnesis in regular clinical practice, in order to detect the risk of this vitamin deficiency at an early stage and to prevent it.
Subject(s)
Humans , Male , Infant , Vitamin B 12 Deficiency , Pediatrics , Diet, Vegetarian/adverse effects , Vegetarians , MothersABSTRACT
Long-term usage of Metformin is associated with lower serum vitamin B12 levels. The lower than normal levels could worsen neurological complications of diabetes, including diabetic neuropathy and poor cognition. Guidelines advise periodic monitoring of vitamin B12 but do not specify frequency, treatment targets or treatment modality. This commentary aims to review the prevalence and the severity of the presentation and to provide evidence-based answers to those clinical questions not answered by current guidelines.