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2.
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
3.
BMJ Case Rep ; 12(6)2019 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-31243025

RESUMO

A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine hydrochloride (Hcl). Subsequently, due to the unavailability of pharmacological preparation of oral thiamine Hcl in a recommended dose she was treated with benfotiamine. She had a sustained improvement in all her haematological parameters on oral benfotiamine. The insulin requirement progressively reduced and she is currently in remission for last 2 years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome.


Assuntos
Anemia Megaloblástica/tratamento farmacológico , Diabetes Mellitus/tratamento farmacológico , Perda Auditiva Neurossensorial/tratamento farmacológico , Deficiência de Tiamina/congênito , Tiamina/análogos & derivados , Administração Oral , Anemia Megaloblástica/complicações , Anemia Megaloblástica/diagnóstico , Diabetes Mellitus/diagnóstico , Cetoacidose Diabética/etiologia , Feminino , Mutação da Fase de Leitura , Hemoglobina A Glicada/análise , Hemoglobina A Glicada/efeitos dos fármacos , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Tiamina/administração & dosagem , Tiamina/farmacologia , Deficiência de Tiamina/complicações , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/tratamento farmacológico , Resultado do Tratamento
5.
J Coll Physicians Surg Pak ; 29(6): S13-S15, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31142407

RESUMO

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset sensorineural deafness. TRMA can generally be diagnosed in early childhood. Early diagnosis is important to prevent complications that may develop soon. As it is a rare disease, diagnosis may sometimes be difficult. We present a rare case of an adult patient with TRMA who had been mistakenly diagnosed with myelodysplastic syndrome (MDS), whose anemia was corrected only after thiamine treatment was started.


Assuntos
Anemia Megaloblástica/tratamento farmacológico , Diabetes Mellitus/tratamento farmacológico , Perda Auditiva Neurossensorial/tratamento farmacológico , Deficiência de Tiamina/congênito , Tiamina/administração & dosagem , Complexo Vitamínico B/administração & dosagem , Adulto , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/genética , Glicemia/metabolismo , Diabetes Mellitus/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/genética , Diagnóstico Diferencial , Feminino , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Humanos , Hipotireoidismo , Injeções Intramusculares , Síndromes Mielodisplásicas , Tiamina/uso terapêutico , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/tratamento farmacológico , Resultado do Tratamento , Complexo Vitamínico B/uso terapêutico
7.
Rev Med Interne ; 40(1): 20-27, 2019 Jan.
Artigo em Francês | MEDLINE | ID: mdl-30031565

RESUMO

Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects.


Assuntos
Anemia Megaloblástica/diagnóstico , Diabetes Mellitus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Proteínas de Membrana Transportadoras/genética , Deficiência de Tiamina/congênito , Tiamina/uso terapêutico , Anemia Megaloblástica/fisiopatologia , Anemia Megaloblástica/terapia , Diabetes Mellitus/fisiopatologia , Diabetes Mellitus/terapia , Diagnóstico Diferencial , Suplementos Nutricionais , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Neurossensorial/terapia , Humanos , Mutação , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/fisiopatologia , Deficiência de Tiamina/terapia
9.
J Coll Physicians Surg Pak ; 28(9): S169-S171, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30173687

RESUMO

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive inherited disorder characterised by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report a case of 2-year-old girl whose anemia improved following administration of thiamine. She came with the history of persistent anaemia for the last one year. Anaemia was not responding to iron, vitamin B12, and folate replacement therapy. The bone marrow aspiration revealed hypercellular marrow with megaloblastic changes and more than 15% ring sideroblasts. The hearing assessment revealed sensorineural hearing loss. Blood sugar random and HBA1c was raised. Final diagnosis of TRMA was made. She was started on thiamine 100 mg OD, with normal routine balanced diet. She responded very well to thiamine. Her haemoglobin improved and blood sugar fasting came down in normal range. This case report sensitises the early diagnosis, and treatment with thiamine in children presenting with anemia, diabetes and deafness.


Assuntos
Anemia Megaloblástica/tratamento farmacológico , Diabetes Mellitus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Proteínas de Membrana Transportadoras/genética , Deficiência de Tiamina/congênito , Tiamina/administração & dosagem , Complexo Vitamínico B/administração & dosagem , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/genética , Glicemia/metabolismo , Pré-Escolar , Diabetes Mellitus/genética , Feminino , Hemoglobina A Glicada/metabolismo , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/genética , Humanos , Tiamina/uso terapêutico , Complexo Vitamínico B/uso terapêutico
10.
J Pediatr ; 202: 315-319.e2, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30057141

RESUMO

We describe 2 children with cobalamin G disease, a disorder of vitamin B12 metabolism with normal serum B12 levels. They presented with megaloblastic anemia progressing rapidly to severe thrombotic microangiopathy. In infants presenting with acute thrombotic microangiopathy, cobalamin disorders should be considered early as diagnosis and targeted treatment can be lifesaving.


Assuntos
Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamento farmacológico , Progressão da Doença , Hidroxocobalamina/uso terapêutico , Microangiopatias Trombóticas/tratamento farmacológico , Microangiopatias Trombóticas/etiologia , Anemia Megaloblástica/sangue , Anemia Megaloblástica/complicações , Análise Química do Sangue , Transfusão de Sangue/métodos , Pré-Escolar , Diagnóstico Precoce , Insuficiência de Crescimento , Testes Hematológicos , Humanos , Lactente , Injeções Intramusculares , Masculino , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/diagnóstico
11.
BMJ Case Rep ; 20182018 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-29903777

RESUMO

Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2 gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7.6 g/dL, leucocytes 2.9×109/L, thrombocytes 6×109/L) revealed by dyspnoea. Investigations excluded coagulopathy, a recent viral infection, vitamin and iron deficiencies, and a malignant process. We later found out that thiamine treatment had been discontinued 5 weeks before, due to prescription error. Parenteral thiamine administration resulted in the recovery of haematopoiesis within 3 weeks. Pancytopenia is uncommon in patients with TRMA. Pre-existing medullary impairment caused by the patient's daily antipsychotic medications or the natural course of the syndrome may explain the severity of the laboratory findings in our patient.


Assuntos
Anemia Megaloblástica/complicações , Diabetes Mellitus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Pancitopenia/etiologia , Deficiência de Tiamina/congênito , Administração Oral , Adulto , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamento farmacológico , Anemia Megaloblástica/genética , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/genética , Feminino , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/tratamento farmacológico , Perda Auditiva Neurossensorial/genética , Humanos , Infusões Parenterais , Mutação , Pancitopenia/tratamento farmacológico , Doenças Raras , Tiamina/administração & dosagem , Tiamina/metabolismo , Tiamina/uso terapêutico , Deficiência de Tiamina/complicações , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/tratamento farmacológico , Deficiência de Tiamina/genética , Resultado do Tratamento , Complexo Vitamínico B/uso terapêutico
12.
Int J Biol Macromol ; 109: 76-84, 2018 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-29246873

RESUMO

Cyanocobalamin (Vitamin B12, VB12) and Folic acid (Vitamin B9, VB9) deficiency leads to anemia in women. We have recently shown low VB12 and VB9 levels in the serum of megaloblastic anemia (MBA) patients. Further, our study demonstrated elevated homocysteine and p53, respectively, in the serum and bone marrow aspirates of MBA patients but not in non-MBA subjects. However, it is unknown whether any gender specific variation in VB12 and VB9 level exists in MBA and non-MBA patients? In addition, it is unclear whether low VB12 and VB9 has a role in the regulation of p53 expression in MBA patients? And whether elevated p53 is functionally active? If so, does bone marrow aspirates of MBA patients show elevated apoptosis. Hence, we have analyzed VB12 and VB9 levels in MBA patients and compared with non-MBA subjects. Next, methylation status of p53 promoter was determined and correlated with p53 expression. Furthermore, the level of apoptosis in bone marrow aspirate paraffin blocks was estimated using TUNEL staining. In conclusion, low VB12 and VB9 in male and female patients directly correlate with p53 promoter unmethylation status, but, inversely correlate with p53 protein expression and its activity, only in MBA cases but not in non-MBA controls.


Assuntos
Anemia Megaloblástica/etiologia , Anemia Megaloblástica/metabolismo , Apoptose/genética , Metilação de DNA , Deficiência de Ácido Fólico/complicações , Genes p53 , Regiões Promotoras Genéticas , Deficiência de Vitamina B 12/complicações , Anemia Megaloblástica/diagnóstico , Biópsia , Medula Óssea/patologia , Células da Medula Óssea/metabolismo , Estudos de Casos e Controles , Feminino , Regulação da Expressão Gênica , Humanos , Masculino
13.
Med Clin North Am ; 101(2): 297-317, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28189172

RESUMO

Vitamin B12 and folate deficiencies are major causes of megaloblastic anemia. Causes of B12 deficiency include pernicious anemia, gastric surgery, intestinal disorders, dietary deficiency, and inherited disorders of B12 transport or absorption. The prevalence of folate deficiency has decreased because of folate fortification, but deficiency still occurs from malabsorption and increased demand. Other causes include drugs and inborn metabolic errors. Clinical features of megaloblastic anemia include anemia, cytopenias, jaundice, and megaloblastic marrow morphology. Neurologic symptoms occur in B12 deficiency, but not in folate deficiency. Management includes identifying any deficiency, establishing its cause, and replenishing B12 or folate parenterally or orally.


Assuntos
Anemia Megaloblástica/etiologia , Anemia Megaloblástica/fisiopatologia , Anemia Megaloblástica/diagnóstico , Comorbidade , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/tratamento farmacológico , Humanos , Doenças Metabólicas/complicações , Transtornos Nutricionais/complicações , Prevalência , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/tratamento farmacológico
14.
World J Gastroenterol ; 23(4): 563-572, 2017 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-28216963

RESUMO

Chronic atrophic autoimmune gastritis (CAAG) is an organ-specific autoimmune disease characterized by an immune response, which is directed towards the parietal cells and intrinsic factor of the gastric body and fundus and leads to hypochlorhydria, hypergastrinemia and inadequate production of the intrinsic factor. As a result, the stomach's secretion of essential substances, such as hydrochloric acid and intrinsic factor, is reduced, leading to digestive impairments. The most common is vitamin B12 deficiency, which results in a megaloblastic anemia and iron malabsorption, leading to iron deficiency anemia. However, in the last years the deficiency of several other vitamins and micronutrients, such as vitamin C, vitamin D, folic acid and calcium, has been increasingly described in patients with CAAG. In addition the occurrence of multiple vitamin deficiencies may lead to severe hematological, neurological and skeletal manifestations in CAAG patients and highlights the importance of an integrated evaluation of these patients. Nevertheless, the nutritional deficiencies in CAAG are largely understudied. We have investigated the frequency and associated features of nutritional deficiencies in CAAG in order to focus on any deficit that may be clinically significant, but relatively easy to correct. This descriptive review updates and summarizes the literature on different nutrient deficiencies in CAAG in order to optimize the treatment and the follow-up of patients affected with CAAG.


Assuntos
Gastrite Atrófica/diagnóstico , Micronutrientes/deficiência , Anemia Megaloblástica/complicações , Anemia Megaloblástica/diagnóstico , Anemia Perniciosa/complicações , Anemia Perniciosa/diagnóstico , Deficiência de Ácido Ascórbico/complicações , Deficiência de Ácido Ascórbico/diagnóstico , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Cálcio/deficiência , Doença Crônica , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/diagnóstico , Gastrite Atrófica/complicações , Humanos , Concentração de Íons de Hidrogênio , Osteoporose/fisiopatologia , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico
15.
J Allergy Clin Immunol Pract ; 4(6): 1160-1166.e10, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27707659

RESUMO

BACKGROUND: Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. OBJECTIVE: To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency. METHODS: The methods used were exome sequencing and analysis of variants in genes involved in the folate metabolic pathway in a family with 2 affected siblings. Routine laboratory and research data were analyzed to gain an in-depth understanding of innate, humoral, and cell-mediated immune function before and after folinic acid supplementation. RESULTS: Interrogation of exome data for concordant variants between the siblings in the genes involved in folate metabolic pathway identified a heterozygous mutation in exon 3 of the MTHFD1 gene that was shared with their mother. In view of highly suggestive phenotype, we extended our bioinformatics interrogation for structural variants in the MTHFD1 gene by manual evaluation of the exome data for sequence depth coverage of all the exons. A deletion involving exon 13 that was shared with their father was identified. Routine laboratory data showed lymphopenia involving all subsets and poor response to vaccines. In vitro analysis of dendritic cell and lymphocyte function was comparable to that in healthy volunteers. Treatment with folinic acid led to immune reconstitution, enabling discontinuation of all prophylactic therapies. CONCLUSIONS: Exome sequencing demonstrated MTHFD1 deficiency as a novel cause of a combined immunodeficiency. Folinic acid was established as precision therapy to reverse the clinical and laboratory phenotype of this primary immunodeficiency.


Assuntos
Anemia Megaloblástica/diagnóstico , Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética , Antígenos de Histocompatibilidade Menor/genética , Imunodeficiência Combinada Severa/diagnóstico , Anemia Megaloblástica/tratamento farmacológico , Anemia Megaloblástica/genética , Anemia Megaloblástica/imunologia , Criança , Pré-Escolar , Exoma , Humanos , Lactente , Recém-Nascido , Leucovorina/uso terapêutico , Masculino , Metilenotetra-Hidrofolato Desidrogenase (NADP)/deficiência , Mutação , Imunodeficiência Combinada Severa/tratamento farmacológico , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/imunologia
16.
Vnitr Lek ; 62(9): 692-697, 2016.
Artigo em Tcheco | MEDLINE | ID: mdl-27715070

RESUMO

INTRODUCTION: Megaloblastic anemia (MA) represents a subtype of macrocytic anemia caused by impaired DNA synthesis, mostly due to folate and vitamin B12 deficiency. Its mildest forms lead to macrocytosis without concomitant anemia, but more severe forms to thrombocytopenia and/or leucopenia as well. In majority of the cases, the diagnosis of MA dose not represent a serious clinical problem, however, other causes of macrocytosis including myelodysplastic syndrome (MDS) must be excluded. MATERIAL AND METHODS: In the period 2004-2015 we identified in our registry 126 consecutive bone marrow (BM) biopsies of patients with cytopenia/s in peripheral blood and suspicion either on MA or MDS of refractory anemia (RA) type. We performed a retrospective analysis of BM biopsies focused on evaluation of parameters useful for the differential diagnosis, as represented by (a) cellularity and proportions of BM precursors, (b) and their topography, (c) presence of maturation defects and dysplastic changes, (d) grade and extent of myelofibrosis, (e) iron deposits and (f) presence of "inflammatory" response in BM. Histological analyses were supported by immunohistochemical examinations. RESULTS: The series consisted of biopsies of 126 patients (61 men and 65 women) with average age 63 (14-88 years) - almost all patients (121/126) presented with anemia. Based on the findings we distinguished three diagnostic groups - MA (31 patients), MDS-RA (39) and bioptically unclasifiable case ("DIF DG" - 56 patients). Abnormalities of the BM cellularity were observed in 81 % and of topography in 73 % of all cases respectively. Megalobastic differentiation of erythropoesis was detected in 79 % and diagnostic dysplastic changes in 25 % of all biopsy cases. In 29 % of all biopsies ring sideroblasts were present, megakaryocytic nuclear lobulisation defects density changes were found in 61 % of all patients. In 14 % of all biopsies the BM myelofibrosis was absent, in contrast 5 % of the biopsies showed severe diffuse fibrosis. "Inflammatory" response was developed in 44 % of all biopsies. Iron deposits were absent in 26 %, decreased in 35 % and increased in 33 % of all the cases. CONCLUSIONS: From the point of view of histopathologist it seems to be difficult to distinguish BM hematopoietic changes in patients with MA and MDS-RA respectivelly, as histological examinations allowed determination of a definitive and correct diagnosis in about 55% of the cases. The crucial problem represents a decision whether the observed changes really result from the development of a clonal disease.Key words: megaloblastic anemia - megaloblastic differentiation - refractory anemia.


Assuntos
Anemia Megaloblástica/diagnóstico , Medula Óssea/patologia , Síndromes Mielodisplásicas/diagnóstico , Mielofibrose Primária/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anemia Megaloblástica/patologia , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/patologia , Mielofibrose Primária/patologia , Estudos Retrospectivos , Adulto Jovem
17.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 24(3): 801-5, 2016 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-27342513

RESUMO

OBJECTIVE: To investigate the clinical significance of bone marrow morphological differences in the differential diagnosis of megaloblastic anemia (MM) and refractory anemia (R4). METHODS: A total of 60 anemia patients selected from our hospital between April 2004 and April 2015 were divided into MA group (30 cases) and RA group (30 cases) in accordance with their clinical diagnosis. Clinical manifestations, results of bone marrow morphology test, blood examination, peripheral blood smear, erythroid megaloblastic variability rate and nucleated red blood cell level in the 2 groups were compared and analyzed. RESULTS: Incidence of fever, hemorrhage, digestive reaction, splenomegaly and fatigue as well as hemoglobin level, platelets and white blood cell counts in patients of MA group were similar to those of RA group, there was no statistically significant difference between 2 groups (P>0.05). The percentages of dysplastic hematopoiesis in erythroid cells, granulocytic cells, magakaryoajtic cells, the PAS-positive rate and red blood cell distribution in the MA patients were obviously lower than those in the RA patients, while the erythroid megaloblastic variability rate (90%) in MA group was obviously higher than that in RA patients (10%) and with statistically significant difference (P<0.05). The percentage of immature red blood cells was similar between MA group (53.33%) and RA group (60.00%), without significant difference (P>0.05). CONCLUSION: Most of clinical manifestations and peripheral blood smear results are consistent in MA patients and RA patients, bone marrow morphology detection in RA group should be focused on lymphocytoid micromegakaryocytes, while the erythroid megaloblastic cell body is the focus in MA group, PAS can be used as a diagnostic criteria.


Assuntos
Anemia Megaloblástica/diagnóstico , Anemia Refratária/diagnóstico , Medula Óssea/patologia , Diagnóstico Diferencial , Contagem de Eritrócitos , Humanos , Contagem de Leucócitos , Megacariócitos/citologia
18.
Indian J Ophthalmol ; 64(2): 157-9, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27050355

RESUMO

We report a case of a 17-year-old female patient who presented with sudden, painless, nonprogressive diminished vision in both eyes (best corrected visual acuity in right eye - 6/60 and left eye - 6/36). An ophthalmological evaluation revealed bilateral pale tarsal conjunctiva and bilateral macular hemorrhage. Hematological evaluation revealed the presence of megalocytic anemia (with hemoglobin - 4.9 g%). General examination showed severe pallor. On systemic examination, no abnormality was detected, confirmed by ultrasonography abdomen. Other causes of severe anemia have been ruled out. Intraocular pressure in both eyes was 12 mmHg. This case documents the rare occurrence of bilateral subinternal limiting membrane macular hemorrhage with megaloblastic anemia without thrombocytopenia and other retinal features of anemic retinopathy.


Assuntos
Anemia Megaloblástica/complicações , Hemorragia Retiniana/etiologia , Adolescente , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/terapia , Transfusão de Sangue , Terapia Combinada , Feminino , Ácido Fólico/uso terapêutico , Humanos , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/terapia , Transtornos da Visão/tratamento farmacológico , Transtornos da Visão/etiologia , Acuidade Visual/efeitos dos fármacos , Vitamina B 12/uso terapêutico
19.
J Coll Physicians Surg Pak ; 26(12): 992-994, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28043314

RESUMO

Hepatitis B virus (HBV) typically causes chronic hepatitis, cirrhosis, and hepatocellular carcinoma. It is associated with a variety of extrahepatic complications. We herein, present a rare extrahepatic complication of HBV infection. A 32-year man presented with melena, bleeding from gums and fever. Peripheral blood examination revealed anemia, macrocytosis and severe thrombocytopenia. His hepatitis B surface antigen (HBsAg) was positive but deoxyribonucleic acid (HBV DNA) by polymerase chain reaction (PCR) was negative. Other hepatitis, human immune deficiency virus (HIV), dengue, and autoimmune serology were negative. Bone marrow examination revealed megaloblastic erythropoiesis. There was mild to moderate reduction of megakaryocytes in bone marrow, which was not compatible with severe peripheral thrombocytopenia. His response to cyanocobalamin and folic acid was remarkable for myeloid cell lines and moderate for erythroid cell lines, but poor to platelet counts. Platelet counts gradually improved to safe limits with eltrombopag, likely reflecting autoimmune pathogenesis for thrombocytopenia. This case report highlights multiple targets of HBV infection with associated multiple pathogenetic mechanisms.


Assuntos
Anemia Megaloblástica/complicações , Hepatite B/complicações , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Adulto , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamento farmacológico , Benzoatos/uso terapêutico , Ácido Fólico/administração & dosagem , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/tratamento farmacológico , Antígenos de Superfície da Hepatite B/sangue , Vírus da Hepatite B , Humanos , Hidrazinas/uso terapêutico , Masculino , Contagem de Plaquetas , Reação em Cadeia da Polimerase , Pirazóis/uso terapêutico , Tenofovir/administração & dosagem , Tenofovir/uso terapêutico , Trombocitopenia/tratamento farmacológico , Vitamina B 12/administração & dosagem , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/tratamento farmacológico , Complexo Vitamínico B/administração & dosagem
20.
Clin Chim Acta ; 452: 44-9, 2016 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-26549656

RESUMO

Thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive disorder, is caused by mutations in SLC19A2 gene encodes a high affinity thiamine transporter (THTR-1). The occurrence of TRMA is diagnosed by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Here, we report a female TRMA patient of Indian descent born to 4th degree consanguineous parents presented with retinitis pigmentosa and vision impairment, who had a novel homozygous mutation (c.1232delT/ter422; p.Ile411Metfs*12) in 5th exon of SLC19A2 gene that causes premature termination of hTHTR-1. PROSITE analysis predicted to abrogate GPCRs family-1 signature motif in the variant by this mutation c.1232delT/ter422, suggesting uncharacteristic rhodopsin function leading to cause RP clinically. Thiamine transport activity by the clinical variant was severely inhibited than wild-type THTR-1. Confocal imaging had shown that the variant p.I411Mfs*12 is targeted to the cell membrane and showed no discrepancy in membrane expression than wild-type. Our findings are the first report, to the best of our knowledge, on this novel nonsense mutation of hTHTR-1 causing TRMA in an Indian patient through functionally impaired thiamine transporter activity.


Assuntos
Anemia Megaloblástica/genética , Códon sem Sentido/genética , Diabetes Mellitus/genética , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana Transportadoras/genética , Deficiência de Tiamina/congênito , Anemia Megaloblástica/diagnóstico , Pré-Escolar , Diabetes Mellitus/diagnóstico , Feminino , Genótipo , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Índia , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/genética
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