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1.
J Exp Bot ; 75(3): 935-946, 2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-37904595

RESUMEN

Tea (Camellia sinensis) is a highly important beverage crop renowned for its unique flavour and health benefits. Chlorotic mutants of tea, known worldwide for their umami taste and economic value, have gained global popularity. However, the genetic basis of this chlorosis trait remains unclear. In this study, we identified a major-effect quantitative trait locus (QTL), qChl-3, responsible for the chlorosis trait in tea leaves, linked to a non-synonymous polymorphism (G1199A) in the magnesium chelatase I subunit (CsCHLI). Homozygous CsCHLIA plants exhibited an albino phenotype due to defects in magnesium protoporphyrin IX and chlorophylls in the leaves. Biochemical assays revealed that CsCHLI mutations did not affect subcellular localization or interactions with CsCHLIG and CsCHLD. However, combining CsCHLIA with CsCHLIG significantly reduced ATPase activity. RNA-seq analysis tentatively indicated that CsCHLI inhibited photosynthesis and enhanced photoinhibition, which in turn promoted protein degradation and increased the amino acid levels in chlorotic leaves. RT-qPCR and enzyme activity assays confirmed the crucial role of asparagine synthetase and arginase in asparagine and arginine accumulation, with levels increasing over 90-fold in chlorotic leaves. Therefore, this study provides insights into the genetic mechanism underlying tea chlorosis and the relationship between chlorophyll biosynthesis and amino acid metabolism.


Asunto(s)
Anemia Hipocrómica , Camellia sinensis , Liasas , Camellia sinensis/genética , Camellia sinensis/metabolismo , Clorofila/metabolismo , Té/metabolismo , Aminoácidos/metabolismo , Mutación , Anemia Hipocrómica/metabolismo , Hojas de la Planta/genética , Hojas de la Planta/metabolismo
2.
J Plant Physiol ; 280: 153898, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36529075

RESUMEN

Although the calcifuge plant species existing in dry acidic grasslands are believed to be prone to iron (Fe)-dependent limitations, little is known about their susceptibility and reaction to pH-dependent Fe starvation. Therefore, the present study examines the effects of contrasting soils (acidic Podzol vs alkaline Rendzina) and Fe supplementation (Fe-HBED) on alkaline substratum (5 and 25 µmol Fe-HBED kg-1 soil). Five calcifuge dicotyledonous plant species (Alyssum montanum L., Antennaria dioica (L.) Gaertn., Hypochaeris radicata L., Jasione montana L. and Potentilla arenaria Borkh.) were tested in a pot experiment under field conditions. Chlorosis, chlorophyll content, growth and chlorophyll a fluorescence were measured. The elemental composition (contents of Ca, Mg, Fe, Mn, Zn and Cu) of the roots and shoots were analyzed, as well as their specialized metabolites. Two studied species (A. dioica d and J. montana) were susceptible to pH-dependent chlorosis, and this deficiency was successfully diminished by the application of Fe-HBED. Almost all the studied species (except A. montanum) preferred the acidic soil. Fe-HBED treatments were not sufficient for supporting the growth of H. radicata and J. montana in alkaline soil to the same degree as in acidic soil, which suggests additional non-Fe-dependent limitations. Both Fe starvation and Fe over-supplementation caused species-specific changes in chlorophyll a fluorescence. The disturbed Fe acquisition in the alkaline soil was not the sole source of the observed limitations, as the chlorosis-susceptible species demonstrated a complex interaction between Fe, Mn and Zn. The species resistant to lime chlorosis contained greater amounts of specialized metabolites than the susceptible plants. Our findings do not support hypothesis that all calcifuges are susceptible to Fe-dependent chlorosis: calcifuge plant species from dry acidic grasslands appear to have diverse Fe requirements and acquisition strategies.


Asunto(s)
Anemia Hipocrómica , Pradera , Clorofila A , Hierro/metabolismo , Raíces de Plantas/metabolismo
3.
Int J Mol Sci ; 23(17)2022 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-36077250

RESUMEN

Iron deficiency causes chlorosis and growth inhibition in Cinnamomum camphora, an important landscaping tree species. Siderophores produced by plant growth-promoting rhizobacteria have been widely reported to play an indispensable role in plant iron nutrition. However, little to date has been determined about how microbial siderophores promote plant iron absorption. In this study, multidisciplinary approaches, including physiological, biochemical and transcriptome methods, were used to investigate the role of deferoxamine (DFO) in regulating Fe availability in C. camphora seedlings. Our results showed that DFO supplementation significantly increased the Fe2+ content, SPAD value and ferric-chelate reductase (FCR) activity in plants, suggesting its beneficial effect under Fe deficiency. This DFO-driven amelioration of Fe deficiency was further supported by the improvement of photosynthesis. Intriguingly, DFO treatment activated the metabolic pathway of glutathione (GSH) synthesis, and exogenous spraying reduced glutathione and also alleviated chlorosis in C. camphora. In addition, the expression of some Fe acquisition and transport-related genes, including CcbHLH, CcFRO6, CcIRT2, CcNramp5, CcOPT3 and CcVIT4, was significantly upregulated by DFO treatment. Collectively, our data demonstrated an effective, economical and feasible organic iron-complexing agent for iron-deficient camphor trees and provided new insights into the mechanism by which siderophores promote iron absorption in plants.


Asunto(s)
Anemia Hipocrómica , Cinnamomum camphora , Deferoxamina/farmacología , Perfilación de la Expresión Génica , Hierro/metabolismo , Sideróforos/metabolismo
4.
J Am Assoc Nurse Pract ; 34(5): 698-700, 2022 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-35486866

RESUMEN

ABSTRACT: Anemia, the overall reduction of red blood cell (RBC) mass in an individual, occurs as a result of an underlying condition. It is probably the most common pathological state worldwide and can be acute, chronic, congenital, or acquired. It can be placed in one of three broad categories: blood loss, hypoproliferative, and hemolytic. The most common and easiest to correct is hypoproliferative anemia caused by nutritional deficiencies. The most common genetic anemias are caused by mutations on the alpha- or beta-globin genes, but there are other mutations that alter red cell membrane function or decrease the bone marrow's ability to manufacture RBCs. Understanding the mechanisms of anemia can help providers interpret the symptom(s)/presentation and guide the clinical workup. Nurse practitioners, especially those in primary care, should be able to recognize when a microcytic anemia is not caused by iron deficiency because these anemias are not corrected by iron supplementation and will need additional workup and referral to hematology.


Asunto(s)
Anemia Hemolítica Congénita , Anemia Hipocrómica , Anemia , Anemia/complicaciones , Anemia/etiología , Anemia Hemolítica Congénita/complicaciones , Anemia Hemolítica Congénita/genética , Anemia Hipocrómica/etiología , Humanos , Hierro , Atención Primaria de Salud
5.
BMC Pregnancy Childbirth ; 21(1): 832, 2021 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-34906104

RESUMEN

BACKGROUND: Anemia in pregnancy is a serious global public health problem in most developing countries and a major cause of maternal morbidity and mortality. Somalia which already had very high maternal mortality ratio of 829 per 100,000 live births, pregnant women in internally displaced camps (IDPs) remain at most exposed. The aim of the study was to determine the prevalence, severity and associated risk factors of anemia among pregnant women in internally displaced camps in Mogadishu, Somalia. METHODS: A community based cross-sectional study was conducted among 383 households in the most IDP settled districts in Mogadishu. Every pregnant mother in these sampled households who was voluntarily consented was targeted. A sample of blood was also taken by pricking the fingertip and inserted into hemoglobin meter. Those with Hb < 11 g/dl from hemoglobin meter had been taken another sample of 3 cc blood and put into EDTA tube for CBC analysis to identify the type of anemia. Data on risk factors were collected using structured pretested questionnaire via an interview. Collected data was coded and entered in SPSS- Version 22 for analysis. Descriptive analysis, bivariate chi-square and multivariate logistic regression were done. RESULTS: The overall prevalence of anemia among study participants was 44.4% (95%CI: 39.5-49.3%), where severe and moderate anemia were 11.8 and 47.0% respectively. In addition all anaemic cases were microcytic hypochromic anemia. Young maternal age, low Family income, fewer/zero parity, being at third or second trimesters, lack of ANC attendance during pregnancy, lack of iron supplementation during pregnancy, taking tea immediately after meal during pregnancy, lower/zero frequency of daily meat and vegetables consumption during pregnancy were associated risk factors of anemia. CONCLUSION: The anemia prevalence from this study was severe public health problem. Several factors were found to be associated with anemia during pregnancy. Measures has to be taken to curb the problem by including them mass iron supplementation and health education towards identified risk factors.


Asunto(s)
Anemia/epidemiología , Complicaciones Hematológicas del Embarazo/epidemiología , Mujeres Embarazadas/etnología , Campos de Refugiados , Refugiados , Adolescente , Adulto , Anemia Hipocrómica/epidemiología , Estudios Transversales , Femenino , Humanos , Gravedad del Paciente , Embarazo , Prevalencia , Factores de Riesgo , Somalia/epidemiología , Adulto Joven
6.
Pediatrics ; 148(2)2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34326177

RESUMEN

A 12-year-old Hispanic girl presented with fatigue, lightheadedness, and intermittent headaches. She was depressed and appeared pale to her mother. Her examination was unremarkable except for palpebral conjunctival pallor and was otherwise noncontributory. She had a profound hypoproliferative microcytic anemia with low iron level, low transferrin saturation, and a normal ferritin level. The patient experienced improvement in clinical symptoms following transfusion of packed red blood cells and oral iron therapy. At follow-up 2 months later, she presented with similar symptoms and persistent microcytic anemia with low iron levels. Her ferritin level was increased along with markedly elevated C-reactive protein and erythrocyte sedimentation rate. An oral iron challenge demonstrated lack of absorption, and hepcidin level was also significantly elevated. Thorough gastrointestinal and rheumatologic evaluations were performed to search for a source of inflammation. Key components of the patient's social history supplemented by serology, radiographic, and pathologic findings ultimately cinched an unexpected diagnosis.


Asunto(s)
Tuberculosis Ganglionar/diagnóstico , Abdomen , Anemia Hipocrómica/etiología , Niño , Femenino , Humanos , Pelvis , Tuberculosis Ganglionar/complicaciones , Tuberculosis Ganglionar/cirugía
7.
Clin Lab ; 67(4)2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33865246

RESUMEN

BACKGROUND: Iron deficiency and thalassemia are two commonly encountered microcytic and hypochromic anemias. The primary objective was to find the best discriminant formula between alpha thalassemia and iron deficiency to be used in premarital screening centers. The secondary objective, was to find cutoff values that might differentiate alpha thalassemia, beta thalassemia, and iron deficiency collectively. METHODS: A total of 224 females divided into four groups (normal, alpha thalassemia, beta thalassemia, and iron deficiency) were recruited in this study after carrying out complete blood count, hemoglobin electrophoresis, serum ferritin, and molecular analysis. Based upon the laboratory data, 26 discriminant formulas (DF) were applied to differentiate alpha thalassemia, beta thalassemia, and iron deficiency anemia. Receiver Operating Characteristic (ROC) curve was constructed and sensitivity, specificity, and Youden's index were determined. RESULTS: In this study, Shine and Lal, Ehsani, Telissani, Sirachainan, Hisham, Kandhro 2, and Mantos indexes showed 100% sensitivity, specificity, Youden's index, and 1.00 AUC for differentiating alpha thalassemia from iron deficient group. Formulas that showed best sensitivity and specificity (100%) in the discrimination of beta thalassemia and iron deficiency were Mentzer, Shine & Lal, Sarivastava & Bevington, and Sirachainan index (AUC 1.00). AUC of Mentzer index was lower (0.988 vs. 1.00) in differentiating alpha thalassemia and iron deficiency than beta thalassemia and iron deficiency. CONCLUSIONS: Almost all discriminant formulas can be utilized for the prediction of microcytic anemia in a premarital setup after excluding beta thalassemia; however, further confirmation is mandatory for genetic counselling and iron supplementation. Furthermore, Bordbar, Kerman index I, and Huber-Herklotz index showed the lowest performance in the discrimination of alpha thalassemia and iron deficiency.


Asunto(s)
Anemia Hipocrómica , Anemia Ferropénica , Talasemia alfa , Talasemia beta , Anemia Ferropénica/diagnóstico , Diagnóstico Diferencial , Índices de Eritrocitos , Femenino , Humanos , Hierro , Talasemia alfa/diagnóstico , Talasemia alfa/genética , Talasemia beta/diagnóstico
8.
Physiol Plant ; 173(1): 235-245, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33629743

RESUMEN

Iron (Fe) deficiency chlorosis (IDC) affects the growth of several crops, especially when growing in alkaline soils. The application of synthetic Fe-chelates is one of the most commonly used strategies in IDC amendment, despite their associated negative environmental impacts. In a previous work, the Fe-chelate tris(3-hydroxy-1-(H)-2-methyl-4-pyridinonate) iron(III) [Fe(mpp)3 ] has shown great potential for alleviating IDC in soybean (Glycine max) in the early stages of plant development under hydroponic conditions. Herein, its efficacy was verified under soil conditions in soybean grown from seed to full maturity. Chlorophyll levels, plant growth, root and shoot mineral accumulation (K, Mg, Ca, Na, P, Mn, Zn, Ni, and Co) and FERRITIN expression were accessed at V5 phenological stage. Compared to a commonly used Fe chelate, FeEDDHA, supplementation with [Fe(mpp)3 ] led to a 29% higher relative chlorophyll content, 32% higher root biomass, 36% higher trifoliate Fe concentration, and a twofold increase in leaf FERRITIN gene expression. [Fe(mpp)3 ] supplementation also resulted in increased accumulation of P, K, Zn, and Co. At full maturity, the remaining plants were harvested and [Fe(mpp)3 ] application led to a 32% seed yield increase when compared to FeEDDHA. This is the first report on the use of [Fe(mpp)3 ] under alkaline soil conditions for IDC correction, and we show that its foliar application has a longer-lasting effect than FeEDDHA, induces efficient root responses, and promotes the uptake of other nutrients.


Asunto(s)
Anemia Hipocrómica , Glycine max , Hierro , Raíces de Plantas , Piridonas
9.
Am J Hematol ; 96(5): 606-616, 2021 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-33471363

RESUMEN

Phosphorus has an essential role in cellular and extracellular metabolism; maintenance of normal phosphorus homeostasis is critical. Phosphorus homeostasis can be affected by diet and certain medications; some intravenous iron formulations can induce renal phosphate excretion and hypophosphatemia, likely through increasing serum concentrations of intact fibroblast growth factor 23. Case studies provide insights into two types of hypophosphatemia: acute symptomatic and chronic hypophosphatemia, while considering the role of pre-existing conditions and comorbidities, medications, and intravenous iron. This review examines phosphorus homeostasis and hypophosphatemia, with emphasis on effects of iron deficiency and iron replacement using intravenous iron formulations.


Asunto(s)
Hipofosfatemia/etiología , Hierro/efectos adversos , Fósforo/metabolismo , Anemia Hipocrómica/tratamiento farmacológico , Calcitriol/fisiología , Compuestos Férricos/administración & dosificación , Compuestos Férricos/efectos adversos , Compuestos Férricos/farmacología , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/biosíntesis , Factores de Crecimiento de Fibroblastos/genética , Factores de Crecimiento de Fibroblastos/fisiología , Homeostasis/efectos de los fármacos , Homeostasis/fisiología , Humanos , Hipofosfatemia/inducido químicamente , Hipofosfatemia/diagnóstico , Hipofosfatemia/terapia , Infusiones Parenterales , Hierro/administración & dosificación , Deficiencias de Hierro , Riñón/metabolismo , Síndromes de Malabsorción/complicaciones , Maltosa/administración & dosificación , Maltosa/efectos adversos , Maltosa/análogos & derivados , Maltosa/farmacología , Osteomalacia/etiología , Hormona Paratiroidea/fisiología , Fósforo Dietético/farmacocinética
10.
Rev. moçamb. ciênc. saúde ; 7(1): 48-58, Out. 2021. ilus, graf
Artículo en Portugués | RSDM | ID: biblio-1344137

RESUMEN

A Tuberculose Extrapulmonar é uma infecção crónica causada pelo Mycobacterium tuberculosis, que afecta qualquer órgão fora da árvore brônquica­pulmonar, sendo mais incidente em países de baixa renda como Moçambique devido a prevalência aumentada de imunodeficiência grave por enfermidades e vulnerabilidade constitucional. Descrevemos um caso clínico de Tuberculose Extrapulmonar Disseminada (Mal de Pott, Tuberculose Ganglionar) e Abcesso Epidural Medular Torácico (T5-T11) e Lombossacral anterior (L5-S1), assistido no Hospital Central de Nampula em Abril de 2019. Trata-se de uma criança de 28 meses de idade, sexo masculino, raça negra, vinda transferida do Centro de Saúde de Muriase (Nampula), com história de tumefação e gibosidade posterior na coluna torácica, de início insidioso e progressivo, de evolução crónica de mais de um mês, dolorosa a palpação e sem irradiação, acompanhada de febre intermitente vespertina e sudorese nocturna. O quadro evoluiu com anorexia e perda acentuada de peso nas últimas 4 semanas. Com a anamnese, exame físico e achados imagiológico-laboratoriais diagnosticou-se Tuberculose Extrapulmonar Disseminada: Mal de Pott e Ganglionar, Abcesso Epidural Medular, Desnutrição Aguda Grave do tipo Marasmo, Malária complicada e Anemia Hipocrómica Microcítica Moderada. A observação holística e multidisciplinar permitiu a melhoria clínica do paciente chamando atenção a casos similares no futuro.


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Tuberculosis , Tuberculosis Pulmonar , Desnutrición Aguda Severa , Mycobacterium tuberculosis , Pacientes , Desnutrición Proteico-Calórica , Grupos Raciales , Anemia Hipocrómica
12.
Int J Hematol ; 109(3): 361-365, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30456712

RESUMEN

Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient had prolonged anemia despite continued iron supplementation for 3 months. White blood count (WBC), hemoglobin (Hb), platelet count, and corrected reticulocyte count were 3,300 /µL, 8.7 g/dL, 90,000 /µL, and 0.55, respectively. The patient had microcytic hypochromic anemia with mildly elevated ferritin. Physical examination revealed hepatosplenomegaly. Bone-marrow aspiration showed sheets of Gaucher cells. Glucocerebrosidase activity in monocytes was significantly lower than normal. Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD. Enzyme replacement treatment (ERT) consisting of imiglucerase was initiated and was effective; WBC, Hb, and platelet count gradually normalized and the hepatosplenomegaly improved. However, when the patient entered elementary school, he showed mild impaired cognitive function, and supranuclear gaze palsy occurred the same year. He was ultimately diagnosed with type 3 GD and continued ERT. Pediatric hemato-oncologists should be aware of GD, especially when patients exhibit anemia refractory to iron therapy, radiologic bone deformity, neurologic signs or symptoms, and growth retardation.


Asunto(s)
Anemia Hipocrómica , Terapia de Reemplazo Enzimático , Enfermedad de Gaucher , Glucosilceramidasa/uso terapéutico , Sustitución de Aminoácidos , Anemia Hipocrómica/sangre , Anemia Hipocrómica/diagnóstico , Anemia Hipocrómica/tratamiento farmacológico , Anemia Hipocrómica/genética , Recuento de Células Sanguíneas , Médula Ósea/metabolismo , Enfermedad de Gaucher/sangre , Enfermedad de Gaucher/diagnóstico , Enfermedad de Gaucher/tratamiento farmacológico , Enfermedad de Gaucher/genética , Glucosilceramidasa/genética , Glucosilceramidasa/metabolismo , Hemoglobinas/metabolismo , Humanos , Lactante , Masculino , Mutación Missense
13.
Rev. bras. cir. plást ; 33(4): 511-517, out.-dez. 2018. tab
Artículo en Inglés, Portugués | LILACS | ID: biblio-980147

RESUMEN

Introdução: A lipoaspiração é o sendo segundo procedimento mais realizado no Brasil. Com os avanços da técnica, melhores equipamentos e aumento da segurança no ambiente cirúrgico, passaram-se a ser lipoaspiradas grandes áreas. Contudo, existe uma preocupação com a segurança do paciente. Comitês de segurança têm feito recomendações sobre a infiltração, anestesia, seleção do paciente, volume aspirado, entre outros. A Sociedade Brasileira de Cirurgia Plástica e o Conselho Federal de Medicina também determinaram parâmetros de volumes de segurança do aspirado e superfície corporal aspirada. Ainda assim, a literatura de apoio para as recomendações é escassa. O objetivo é avaliar as alterações dos níveis de hemoglobina, ferro sérico e proteínas totais no pré e pós-operatório mediato (7-10 dias), assim como seus reflexos nos pacientes. Métodos: Realizamos um estudo prospectivo, com pacientes submetidos à lipoaspiração isolada e associada à dermolipectomia abdominal, por indicações estéticas. Avaliamos 30 pacientes, sendo coletados dados demográficos, peso, Índice de Massa Corporal, níveis de hemoglobina, ferro sérico e proteínas totais, no pré-operatório, e entre 7 a 10 dias de pós-operatório. Resultados: A queda da hemoglobina foi entre 2-6g/dl, com média de 3,1g/dl aos 7-10 dia de PO. Tivemos como valor mínimo de hemoglobina 7,8g/dl no pós-operatório com 7-10 dias, enquanto o ferro sérico apresentou redução média de 44,87g/dl. Conclusão: A redução no nível da hemoblogina foi responsável pela sintomatolgia clinica apresentada. A reposição de ferro se mostrou necessária no pós-operatório imediato.


Introduction: Liposuction is the second commonest procedure performed in Brazil. The scope for liposuction has broadened with advances in the technique, with better equipment, and increased safety in the surgical environment. However, there are concerns about patient safety. Safety committees have made recommendations on various aspects of the procedure including infiltration, anesthesia, patient selection, and aspirated volume. The Brazilian Society of Plastic Surgery and the Federal Council of Medicine have also determined the parameters for aspiration safety volumes, and for the aspiration of body surface. However, supporting literature for the recommendations is scarce. The objective is to evaluate changes in hemoglobin, serum iron, and total protein levels in the peri-operative days (between 7 and 10 days), in addition to its impact in patients. Methods: We performed a prospective study, with patients submitted to either liposuction alone, or in conjunction with abdominal dermolipectomy for esthetic indications. We evaluated 30 patients, collecting their demographic data, weight, body mass index, hemoglobin, serum iron, and total protein levels in both, the pre-operative period, and between 7 and 10 post-operative days. Results: The fall in hemoglobin levels were between 2 and 6 g /dL, with an average of 3.1 g /dL between 7 and 10 post-operative days . A minimum hemoglobin value of 7.8 g/dL was noted between 7 and 10 days after surgery, while the mean reduction of serum iron was found to be 44.87 g/dL. Conclusion: The reduction in hemoglobin levels was responsible for the clinical symptoms. Iron supplementation was required in the immediate post-operative period.


Asunto(s)
Humanos , Femenino , Adulto , Persona de Mediana Edad , Procedimientos Quirúrgicos Operativos/métodos , Lipectomía/métodos , Abdominoplastia/efectos adversos , Abdominoplastia/métodos , Hipotensión Ortostática/complicaciones , Anemia Hipocrómica/complicaciones , Complicaciones Posoperatorias , Seguridad del Paciente
14.
Hematology ; 22(9): 559-564, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28447549

RESUMEN

OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin. We analyzed the TMPRSS6 gene and we improved clinical management of the patient, selecting the appropriate supplementation therapy. Intervention & Technique: The parenteral iron therapy was started, but the patient was only partially responsive and the anemia persisted. To confirm the diagnosis, the TMPRSS6 gene sequence was analyzed by DNA sequencing and other relevant biochemical parameters were evaluated. RESULTS: The TMPRSS6 sequence analysis showed a complex genotype with a rare heterozygous missense variant, in addition to other common polymorphisms. The serum hepcidin value was normal. We unexpectedly observed a normalization of patient's hemoglobin (Hb) levels only after liposomal iron treatment. DISCUSSION AND CONCLUSION: The proband was symptomatic for IRIDA during a critical phase of growth and development, but we did not find a clearly causative genotype. A long-term result, improving stably patient's Hb levels, was obtained only after liposomal iron supplementation. Children may be at greater risk for iron deficiency and the degree of anemia as well as the response to the iron supplements varies markedly patient to patient. Here, we show the importance of comprehensive study of these patients in order to collect useful information about genotype-phenotype association of genes involved in iron metabolism.


Asunto(s)
Anemia Ferropénica/diagnóstico , Anemia Ferropénica/genética , Predisposición Genética a la Enfermedad , Genotipo , Proteínas de la Membrana/genética , Serina Endopeptidasas/genética , Sustitución de Aminoácidos , Anemia Hipocrómica/diagnóstico , Anemia Hipocrómica/genética , Anemia Hipocrómica/terapia , Anemia Ferropénica/terapia , Biomarcadores , Niño , Índices de Eritrocitos , Femenino , Estudios de Asociación Genética , Humanos , Mutación , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Índice de Severidad de la Enfermedad
15.
Artículo en Coreano | WPRIM | ID: wpr-125606

RESUMEN

Iron-deficiency anemia (IDA) is the most frequent hematologic and nutritional disorder in children. The risk factors associated with IDA in children are rapid growth with inadequate dietary iron, low birth weight, premature birth, perinatal bleeding, early cow's milk intake, and breastfeeding beyond 6 months without iron supplementation. Blood loss is also an important cause of IDA. Most children with IDA are asymptomatic and may go undiagnosed. The diagnosis of IDA is confirmed by microcytic hypochromic anemia and a low level of serum ferritin. Monitoring the response to iron supplementation is a reasonable intervention for a clinically stable child with mild anemia and inadequate iron intake. IDA must be differentiated from the anemia that arises from chronic disease and thalassemia. Oral iron is usually recommended as first-line therapy. Parenteral iron is indicated in cases of poor compliance or failure of oral iron, intestinal malabsorption, or chronic bleeding.


Asunto(s)
Niño , Humanos , Recién Nacido , Anemia , Anemia Hipocrómica , Anemia Ferropénica , Lactancia Materna , Enfermedad Crónica , Adaptabilidad , Diagnóstico , Ferritinas , Hemorragia , Recién Nacido de Bajo Peso , Hierro , Hierro de la Dieta , Leche , Trastornos Nutricionales , Nacimiento Prematuro , Factores de Riesgo , Talasemia
16.
Nephron ; 131(2): 138-44, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26381391

RESUMEN

Iron deficiency is a major cause of hyporesponsiveness to erythropoiesis-stimulating agents (ESAs) and is often observed in chronic kidney disease (CKD) patients with anemia. With iron supplementation, ESA doses can be decreased, resulting in lower treatment costs and possibly lower cardiovascular risks that are associated with high-dose ESA therapy. The 2012 Kidney Disease: Improving Global Outcomes Guideline specified ferritin ≤ 500 ng/ml and transferrin saturation (TSAT) ≤ 30% as thresholds of iron parameters for CKD patients. However, long-term safety (in terms of mortality, cardiovascular/infection risk and tissue deposition) of high-dose intravenous iron supplementation with such high target levels of ferritin/TSAT has not been confirmed. Recently, there has been increase in the use of intravenous iron and average ferritin levels in dialysis patients in the United States. Clinical trials conducted so far have been underpowered to conclusively establish the long-term safety of intravenous iron supplementation. Results from observational studies are conflicting, and many experimental studies have even shown negative effects of intravenous iron. Clearly, randomized clinical trials are urgently needed, studying various doses of intravenous iron, with sufficient patient numbers and longer observation periods, to investigate mortality, cardiovascular effects and infection risks of this treatment. Until the long-term safety of iron supplementation at high doses is established, a more prudent decision on iron supplementation with lower target levels of ferritin/TSAT seems reasonable, in light of the decades of experience with ESA that has shown that definitive clinical outcomes have been dissociated from surrogate outcomes (especially hemoglobin concentration).


Asunto(s)
Anemia Hipocrómica/tratamiento farmacológico , Hierro/uso terapéutico , Insuficiencia Renal Crónica/complicaciones , Anemia Hipocrómica/etiología , Suplementos Dietéticos , Humanos , Diálisis Renal , Insuficiencia Renal Crónica/terapia , Resultado del Tratamiento
17.
Crit Rev Clin Lab Sci ; 52(5): 256-72, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26292073

RESUMEN

The diagnosis of iron deficiency anemia is typically straightforward, especially when classic biochemical and hematological changes are present in a subject at risk. It can be challenging in the presence of diseases or when it is due to inherited defects of iron metabolism. The identification of iron deficiency prior to anemia development is also difficult. New hematological parameters such as reticulocyte Hb content have expanded the classic ones such as MCV, MCH and MCHC. A variety of hematology analyzers now provide novel parameters to assess cellular hypochromia and microcytosis in both reticulocytes and mature red blood cells. The repertoire of biochemical markers has also been expanded, with iron, transferrin and ferritin being supplemented by circulating transferrin receptor and hepcidin. Molecular identification of functional variants of key iron metabolism determinants has provided explanations for the heritability of some iron metabolism biomarkers. Genetic defects in some of these molecules are responsible for hereditary microcytic anemias, also called atypical microcytic anemias. In this review, we examine the most significant hematological and biochemical markers for iron metabolism, as well as relevant genetic polymorphisms and defects affecting iron handling.


Asunto(s)
Anemia Hipocrómica/diagnóstico , Anemia Ferropénica/diagnóstico , Medicina Basada en la Evidencia , Anemia Hipocrómica/sangre , Anemia Hipocrómica/genética , Anemia Hipocrómica/metabolismo , Anemia Ferropénica/sangre , Anemia Ferropénica/genética , Anemia Ferropénica/metabolismo , Biomarcadores/sangre , Biomarcadores/metabolismo , Diagnóstico Diferencial , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo Genético
18.
Sleep Med ; 16(5): 589-92, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25900141

RESUMEN

OBJECTIVE: Almost one-third of pregnant women develop symptoms of restless legs syndrome (RLS), which could have a negative impact on quality of life and the course of pregnancy and/or labor. The aim of our study was to determine possible risk factors for developing RLS in pregnant women. METHODS: A total of 300 random women in the third trimester of gravidity filled out a simple questionnaire based on the official diagnostic criteria for RLS. Respondents positive for RLS were interviewed to further characterize their symptoms. The parameters of iron metabolism were examined based on blood samples. All data were statistically analyzed. RESULTS: We detected significantly lower hemoglobin levels with signs of hypochromic anemia typical of iron deficiency in RLS-positive respondents, although oral iron supplementation was significantly higher in this group. The overall severity of symptoms correlated inversely with hemoglobin level. CONCLUSION: According to our results, it appears that serum iron level disturbances play a crucial role in the pathophysiology of secondary RLS in pregnant women.


Asunto(s)
Anemia Ferropénica/complicaciones , Complicaciones del Embarazo/etiología , Síndrome de las Piernas Inquietas/etiología , Adolescente , Adulto , Anemia Hipocrómica/complicaciones , Femenino , Hemoglobinas/análisis , Humanos , Hierro/sangre , Deficiencias de Hierro , Embarazo , Síndrome de las Piernas Inquietas/complicaciones , Factores de Riesgo , Encuestas y Cuestionarios , Adulto Joven
19.
Med Clin (Barc) ; 144(4): 166-9, 2015 Feb 20.
Artículo en Español | MEDLINE | ID: mdl-24559541

RESUMEN

BACKGROUND AND OBJECTIVE: Lead poisoning is normally caused by repeated occupational inhalation of lead. However, lead may also be absorbed through the digestive route. Some alternative medical treatments, such as Ayurvedic medicine, can also contain lead and may result in poisoning. PATIENTS AND METHOD: We collected cases of lead poisoning related to Ayurvedic treatments attended at the Hospital Clinic of Barcelona. RESULTS: Two female patients, aged 45 and 57 years, respectively, who initiated Ayurvedic treatments which involved the ingestion of various medicaments, were included. The first patient presented with anemia and abdominal pain. The lead level was 74µg/dL and free erythrocyte protoporphyrin was 163µg/dL. She was treated with intravenous calcium disodium ethylenediaminetetraacetic acid (CaNa2EDTA) and later with oral dimercaptosuccinic acid (DMSA) with a good evolution. The second patient presented with abdominal pain and a Burton's line. The lead level was 52µg/dL and free erythrocyte protoporphyrin was 262µg/dL. She was treated with oral DMSA and evolved favorably. Lead concentrations in some of the tablets supplied to the patients reached 2,003 and 19,650µg/g of tablet. CONCLUSIONS: Lead poisoning may result from treatments based on Ayurvedic medicine and may reach epidemic proportions. Health control of alternative medicines is necessary.


Asunto(s)
Intoxicación del Sistema Nervioso por Plomo en Adultos/etiología , Medicina Ayurvédica , Dolor Abdominal/etiología , Anemia Hipocrómica/etiología , Bursitis/complicaciones , Bursitis/tratamiento farmacológico , Terapia por Quelación , Ácido Edético/uso terapéutico , Femenino , Fibromialgia/complicaciones , Fibromialgia/tratamiento farmacológico , Humanos , Intoxicación del Sistema Nervioso por Plomo en Adultos/diagnóstico , Intoxicación del Sistema Nervioso por Plomo en Adultos/tratamiento farmacológico , Persona de Mediana Edad , Succímero/uso terapéutico , Talasemia beta/complicaciones
20.
Indian J Med Res ; 140(2): 231-7, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25297356

RESUMEN

BACKGROUND & OBJECTIVES: In a routine community health survey conducted in adult Adivasis of the costal Maharashtra, microcytosis and hyprochromia were observed in more than 80 per cent of both males and females having normal haemoglobin levels suggesting the possibility of α-thalassaemia in these communities. We conducted a study in Adivasi students in the same region to find out the magnitude of α-thalessaemia. METHODS: The participants (28 girls and 23 boys) were 14-17 yr old studying in a tribal school. Fasting venous blood samples (5 ml) were subjected to complete blood count (CBC), Hb-HPLC and DNA analysis using gap-PCR for deletion of -α3.7 and -α4.2, the two most common molecular lesions observed in α-thalassaemia in India. RESULTS: Microcytic hypochromic anaemia was observed 50 and 35 per cent girls and boys, respectively. Iron supplementation improved Hb levels but did not correct microcytois and hypochromia. m0 ore than 80 per cent non-anaemic students of both sexes showed microcytois and hypochromia. DNA analysis confirmed that the haematological alterations were due to α-thalassaemia trait characterized by deletion of -α3.7. Majority (>60%) of the affected students had two deletions (-α3.7/-α3.7 genotype α+ thalassaemia. INTERPRETATION & CONCLUSIONS: This is perhaps the first report on the occurrence of α-thalassaemia in tribal communities of coastal Maharashtra. Very high (78.4%) haplotype frequency of -α3.7 suggests that the condition is almost genetically fixed. These preliminary observations should stimulate well planned large scale epidemiological studies on α-thalassaemia in the region.


Asunto(s)
Anemia Hipocrómica/epidemiología , Etnicidad/estadística & datos numéricos , Hemoglobinas/análisis , Talasemia alfa/epidemiología , Adolescente , Recuento de Células Sanguíneas , Cromatografía Líquida de Alta Presión , Femenino , Haplotipos/genética , Humanos , India/epidemiología , Masculino , Reacción en Cadena de la Polimerasa/métodos
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