A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene / 中华医学遗传学杂志

OBJECTIVE@#The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.@*METHODS@#Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Gap-PCR and NGS showed that the proband has carried a αα/-α @*CONCLUSION@#Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α

Enfermedad por hemoglobina H: primer caso de dobles heterocigotos hemoglobina Constant Spring / Sudeste Asiático en Costa Rica / Hemoglobin H disease: first case of double heterozygous hemoglobin Constant Spring / Southeast Asian in Costa Rica

Resumen La enfermedad por hemoglobina H es un cuadro clínico que se presenta en las alfa talasemias, las cuales son enfermedades que cursan con anemia microcítica hipocrómica, debidas principalmente a deleciones en el gen de alfaglobina, lo que disminuye la producción de la cadena de alfa globina y promueve la formación de variantes de hemoglobina. Cuando se detectan variantes de hemoglobina en las alfa talasemias, por lo general, se debe a genotipos homocigotas o dobles heterocigotas para mutaciones y deleciones del gen de alfa globina coheredadas. En este artículo se describe el primer caso en Costa Rica, de dos hermanos con enfermedad por hemoglobina H, que fenotípicamente presentaron las variantes de hemoglobina H y hemoglobina Constant Spring en el análisis electroforético de la hemoglobina, y cuyo análisis molecular del gen de alfa globina detectó tanto la deleción sudeste asiático como la mutación para hemoglobina Constant Spring, siendo diagnosticados como dobles heterocigotos por alfa talasemia (genotipo --SEA/ααCS).

Abstract Hemoglobin H disease occurs in patients with alpha thalassemia, diseases associated with hypochromic microcytic anemia, mainly due to deletions in the alpha globin gene, which decreases the production of the alpha globin chain and promotes the formation of hemoglobin variants. When hemoglobin variants are detected in alpha thalassemias it is usually due to homozygoys or doublé heterozygous genotypes, for mutations and deletions of the alpha globin gene. This article describes the first case in Costa Rica of two siblings with hemoglobin H disease, who phenotypically presented the hemoglobin H and Constant Spring hemoglobin variants in the electrophoretic analysis of the hemoglobin, and whose molecular DNA analysis of the alpha globin gene detected both, the Southeast Asian deletion and the mutation for Constant Spring Hemoglobin, being diagnosed as compound heterozygous for alpha thalassemia (genotipe --SEA/ααCS).

Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin / 中国实验血液学杂志

OBJECTIVE@#To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families.@*METHODS@#RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.@*RESULTS@#Three cases of Hb Broomhill were detected, including 2 cases with common SEA α-thalassemia, which was characterized by hypochromic microcytic mild anemia, the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak; 1 case was diagnosed as Hb Hornchurch combined with β-thalassemia, which also showed mild anemia. Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A@*CONCLUSION@#The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia, which do not aggravate the hematological symptoms, such as anemia when being combined with thalassemia of the same type.

Identificación de &-talasemia en anemias microcíticas hipocrómicas refractarias al tratamiento con hierro en Nicaragua / Identification of &-thalassemia in hypochromic microcytic anemias refractory to iron treatment in Nicaragua

Resumen Justificación y objetivo: gran parte de los casos descritos de anemias microcíticas-hipocrómicas corresponden a anemias ferropénicas y síndromes talasémicos. El diagnóstico diferencial se complementa con pruebas de laboratorio como el hierro sérico, ferritina, entre otras; sin embargo, estas son de baja disponibilidad en países en vías de desarrollo. En Nicaragua, el diagnóstico de estas patologías se basa en el historial clínico y análisis hematológicos de rutina. El objetivo de este trabajo fue la implementación de la técnica de cuantificación de hemoglobina A2 en el diagnóstico clínico de β-talasemia. Métodos: se realizó un estudio transversal con 30 pacientes que mostraban microcitosis e hipocromía después de 3 meses de tratamiento con sales de hierro. Se realizó electroforesis de hemoglobina y se utilizó el kit de la casa comercial Beta-Thal HbA2 Quik Column para cuantificar la hemoglobina A2 en cada paciente. El análisis estadístico utilizado fue la prueba de t de student. Se consideraron significativas las diferencias a p<0,05. Esta investigación respetó los principios éticos que conciernen. Se contó con la aprobación del Comité de Ética Institucional, UNAN-Managua. Los participantes dieron su consentimiento informado. Resultados: al aplicar el método para cuantificación de hemoglobina A2, se obtuvo que el 67 % de las muestras presentaron una concentración de hemoglobina A2 mayor al valor de referencia establecido (3,3 %), siendo pacientes diagnosticados para β-talasemia menor. El 33 % restante presentó valores normales de hemoglobina A2 con microcitosis e hipocromía. Se encontraron diferencias estadísticamente significativas entre las medias de glóbulos rojos, volumen corpuscular medio, hemoglobina corpuscular media y hemoglobina A2, entre ambos grupos. Conclusión: el diagnóstico diferencial de anemias microcíticas hipocrómicas refractarias al tratamiento con hierro, se realiza inicialmente por el historial clínico del paciente, pero es necesario contar con pruebas diagnósticas como la cuantificación de hemoglobina A2 que permitan identificar las diversas patologías que cursan con microcitosis e hipocromía.

Abstract Justification and objective: much of the described cases of microcytic-hypochromic anemias are ferropenic anemias and Thalassemia syndromes. The differential diagnosis is complemented by laboratory tests as serum iron, ferritin, among others; However, these are of low availability in developing countries. In Nicaragua, the diagnosis of these diseases is based on clinical history and routine blood analysis. The objective of this work was to implement a technique for quantification of hemoglobin A2 in the clinical diagnosis of β-Thalassemia. Methods: We conducted a cross-sectional study with 30 patients showing hypochromia and microcytosis after 3 months of treatment with iron salts. Hemoglobin electrophoresis was performed, a kit from Beta-Thal HbA2 Quik Column was used to quantify the hemoglobin A2 in each patient. The statistical analysis used was the student's t test. The differences were considered significant at p < 0.05. This research respected ethical principles that concern. It had the approval of the committee of ethics institutional, UNAN-Managua and the participants gave their informed consent. Results: when applying the method for quantification of hemoglobin A2, 67% of samples presented a concentration of hemoglobin A2 greater than the reference value set at 3.3%, these patients were diagnosed with β-Thalassemia minor. The remaining 33% presented normal values of hemoglobin A2 with hypochromia and microcytosis. Statistically significant differences between the averages of red blood cells, mean corpuscular volume, mean corpuscular hemoglobin and hemoglobin A2 between the two groups was observed. Conclusion: The differential diagnosis of microcytic hypochromic anemias refractory to treatment with iron, is initially performed by the clinical history of the patient, but it is necessary to have diagnostic tests such as the quantification of hemoglobin A2, which allow the identification of patients with β-Thalassemia minor within this group. In our study 67% of the studied samples were identified as β-Thalassemia minor.

Segurança do paciente: alterações da hemoglobina e ferro sérico após lipoaspiração e/ou abdominoplastia / Patient safety: changes in hemoglobin and serum iron after liposuction and/or abdominoplasty

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.

Prevalence of anemia in schools of the metropolitan region of Curitiba, Brazil

ABSTRACT Background: Anemia during childhood is one of the biggest public health problems worldwide, including Brazil. Insufficient or abnormal production of hemoglobin, loss of iron and excessive destruction of red blood cells are the most common causes of anemia. Among the reasons of anemia, iron deficiency accounts for 50% of anemia cases in developing countries. Affected individuals present a wide range of clinical problems, including delayed neuropsychomotor progression, impaired cellular immunity and reduction of intellectual capacity. This study aimed to evaluate the prevalence of anemia in children attending public schools in the metropolitan region of Curitiba, Paraná, Brazil. Method: A retrospective study was conducted of 409 children aged 8-12 years old included in an extension project of the Universidade Federal do Paraná. The results of complete blood count and hemoglobin electrophoresis of all children were evaluated. Anemia was considered when the hemoglobin levels were <11.5 g/dL. Results: The prevalence of anemia was found to be 2.2% of the population studied, with hypochromic microcytic anemia being the most common type. Seven children had sickle cell trait and one had β-thalassemia. Conclusion: The prevalence of anemia in this study was considered normal according the World Health Organization classification, which is different from the data found in other Brazilian regions.

Tuberculosis miliar con diseminación renal y genitourinaria: reporte de un caso / Miliary tuberculosis, with renal and genitourinary disemination; Case Report

Antecedentes: A pesar de los grandes avances en la medicina contemporánea; la Tuberculosis continúa siendo un reto diagnóstico, en especial al presentarse con características clínicas poco usuales. Caso clínico: Paciente masculino de 48 años, agri-cultor, de escasos recursos económicos, sin comorbilidades previas, el cual presenta sintomatología constitucional, pérdida de peso, iebre y dolor lumbar irradiado a ambos lancos de la región abdominal, de características poco especíicas, de un mes de evolución; acompañado de disuria y oliguria, y niega síntomas respiratorios. Al examen físico luce crónicamente enfermo, en mal estado nutricio-nal, sin deterioro de la conciencia, no se evidencia adenopatías cervicales ni inguinales; sin presencia de signos pulmonares, con leve dolor con la puño percusión renal bilateral, en el área genital, se identiica una masa de borde regular, móvil sobre el polo superior del testículo derecho. En el examen hematológico con presencia de Bicitopenia anemia microcitica hipocromica y trombocitopenia leve, en gases arteriales acidosis metabólica con Anión Gap elevado, además con hiperazoemia e hiperkalemia en la bioquímica sanguínea refractaria al tratamiento, razón por la cual fue sometido a Hemodiálisis aguda. Al evaluar radiografía de tórax se observa patrón micro-nodular difuso, no se realiza baciloscopias por falta de expectoración ni por lavado gástrico, en el ultrasonido renal y de vías urinarias se visualizó nefromegalia y la presencia de masa heterogénea de aspecto granulomatoso en testículo derecho; por lo que se solicitó tomografía toracoabdominal, en donde se observa patrón micronodular múltiple a nivel pulmonar, con afectación renal, ganglionar y testicular, se solicita BAAR de sedimento urinario seriado con resultados positivos, y la tinción Ziehl Neelsen en orina con resultado positivo; con ello se inicia terapia antiimica. Discusión: La Tuberculosis renal no tiene un cuadro clínico clásico; generalmente se presenta con manifestaciones atípicas; como en nuestro caso con sintomatología urinaria, hiperazoemia que culmino en terapia de restitución renal de emergencia, con posterior recuperación de la función renal.

Anemia microcítica-hipocrómica: anemia ferropénica versus b talasemia menor / Microcytic and hypochromic anemia: iron deficiency anemia versus b thalassemia trait / Anemia microcitica-hipocrômica: anemia ferropênica versus b talassemia menor

Las anemias microcíticas hipocrómicas (m-H) presentan VCM<80 fL y HCM<27 pg. Son producto de la baja biodisponibilidad del hierro (Fe), o del defecto de la síntesis de globinas o del HEMO. La más frecuente es la anemia por deficiencia de hierro (ADH), seguida por las talasemias y las anemias de procesos crónicos. Menos frecuentes son aquellas por defectos en el HEMO o por causas genéticas del metabolismo del Fe. El objetivo del trabajo es revisar, por medio de parámetros de distinta complejidad, diferencias entre ADH y b talasemia heterocigota (b-Tal-het), las m-H de mayor prevalencia en nuestro medio. Los recuentos de eritrocitos y reticulocitos, hemoglobina, ferremia, ferritina, saturación de la transferrina, HbA2, porcentaje de alteraciones morfológicas son menores en la ADH. El VCM, el HCM, la ADE, los índices de microcitosis, transferrina, y los receptores solubles de transferrina son menores en b-Tal-het. El estrés oxidativo está aumentado en ambas patologías. En el análisis de estos parámetros se discute el grado de deficiencia de Fe y/o la mutación de b-Tal-het. Se aplica un algoritmo para m-H a partir del Fe sérico. Una vez descartadas las m-H más comunes, se debe investigar a-Tal-het, la cual se considera la causa de la mayoría de m-H inexplicadas.

Microcytic hypochromic anemia (m-H) presents MCV<80 fL and MCH<27 pg. m-H can result from iron availability, defects in globin or HEMO synthesis. The most frequent m-H is iron deficiency anemia (IDA), followed by thalassemias and anemia chronic disease. Rare m-H are a consequence of HEME defects or iron metabolism genetic defects. The aim of this study is to review the differential diagnosis between IDA and b thalassemia trait (b thal trait), the most frequent in our environment. Results of laboratory tests are analysed. Erythrocytes, hemoglobin, reticulocytes, iron, ferritin, transferrin saturation, HbA2 and percentage of morphologic changes are lower in IDA compared with b Thal trait. MCV, MCH, RDW, microcytic index, transferrin and soluble transferrin receptor are higher in IDA compared with b Thal trait. Oxidative stress is increased in the two forms of microcytoses. Degree iron deficiency in IDA and b Thal trait mutation must be considered in the analysis of the parameters. A flowchart is proposed to evaluate m-H stemming from serum iron value. After excluding the most frequent causes of microcytic anemia, a thalassemia trait must be considered.

As anemias microcíticas hipocrômicas (m-H) apresentam VCM<80 fL e HCM<27 pg. São produto da baixa biodisponibilidade do ferro (Fe), ou do defeito da síntese de globinas ou do HEMO. A mais frequente é a anemia por deficiência de ferro (ADH), seguida pelas talassemias e as anemias de processos crônicos. Menos frequentes são aquelas por defeitos no HEMO ou por causas genéticas do metabolismo do Fe. O objetivo do trabalho é revisar, através de parâmetros de diversa complexidade, diferenças entre ADH e b talassemia heterocigota (b-Tal-het), as m-H de maior prevalência no nosso meio. As contagens de eritrócitos e reticulócitos, hemoglobina, ferremia, ferritina, saturação da transferrina, HbA2, percentagem de alterações morfológicas são menores em ADH. O VCM, o HCM, a ADE, os índices de microcitose, transferrina, receptores solúveis de transferrina são menores em b-Tal-het. O estresse oxidativo está aumentado em ambas as patologias. Na análise destes parâmetros é discutido o grau de deficiência de Fe e/ou a mutação de b-Tal-het. Aplica-se um algoritmo para m-H a partir do Fe sérico. Depois de serem descartadas as m-H mais comuns, deve investigar-se a-Tal-het, a qual é considerada a causa da maior parte de m-H inexplicadas.

Pulmonary tuberculosis associated with autoimmune hemolytic anemia

Pulmonary tuberculosis could be associated with certain types of anemia, such as normocytic normochromic anemia and microcytic hypochromic anemia; however, it is rarely associated with autoimmune hemolytic anemia

We report a case of a child with pulmonary tuberculosis associated with autoimmune hemolytic anemia and iron deficiency anemia which was resolved with anti-tuberculosis medications, isoniazid, pyrazinamide, rifampicin and ethambutol

Iron-deficiency anemia in children: from diagnosis to treatment

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.

A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review / 소아과

Herein, we report a rare case of hemolytic anemia with reticulocytopenia following intravenous immunoglobulin therapy in a young infant treated for Kawasaki disease. A 2-month-old boy presented with fever lasting 3 days, conjunctival injection, strawberry tongue, erythematous edema of the hands, and macular rash, symptoms and signs suggestive of incomplete Kawasaki disease. His fever resolved 8 days after treatment with aspirin and high dose infusion of intravenous immunoglobulin. The hemoglobin and hematocrit decreased from 9.7 g/dL and 27.1% to 7.4 g/dL and 21.3%, respectively. The patient had normocytic hypochromic anemia with anisocytosis, poikilocytosis, immature neutrophils, and nucleated red blood cells. The direct antiglobulin test result was positive, and the reticulocyte count was 1.39%. The patient had an uneventful recovery. However, reticulocytopenia persisted 1 month after discharge.

Gene Analysis of Thalassemia in Han and Dai Ethnic Childbearing-aged Population of Chinese Yunnan Province / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the common mutation spectrum of α- and β-thalassemia in Yunnan childbearing-aged population.</p><p><b>METHODS</b>The common mutation types of α- or β-globin genes were detected by multiple Gap-PCR and the PCR-reversed dot blotting, and the unknown mutation types were determined by DNA sequencing in DNA samples of hypochromic microcytic anemia patients and carriers who were confirmed to be positive by serologic screaning, then the mutation types of globin in Yunnan population were analyzed statistically.</p><p><b>RESULTS</b>A total of 40 kinds of mutation types were detected in 685 detected persons, among them the 3 commonest mutation types of α-globin genes were --(SEA)/αα (49.09%), -α(3.7)/αα (36.67%) and α(CS)α/αα (8.79%), the 3 commonest genetypes of β-globin gene were CD26(GAG>AAG)/N (43.78%), CD41-42(-CTTT)/N (20.1%) and CD17(AAG>TAG)/N (18.9%). There were 348 Han and 212 Dai ethnic persons in 685 cases, but their mutation of globin genes were different between these 2 ethnic groups. The results also showed that the gene mutation types were mostly concentrated in Dai ethnic individuals, since 28 of 38 detected α-β-thalassemia cases were Dai ethnic individuals.</p><p><b>CONCLUSION</b>The mutation spectrums of α- and β-globin genes in Yunnan childbearing-aged population are diverse and different from that in other areas of China.</p>

Association between anemia and 3-year all-cause mortality among oldest old people in longevity areas in China / 中华流行病学杂志

<p><b>OBJECTIVE</b>To explore the association between anemia and 3-year all-cause mortality among the oldest old people in longevity areas in China.</p><p><b>METHODS</b>In August 2012, questionnaire survey, health examination and blood test were conducted among 929 old people aged ≥ 80 years in 7 longevity areas in China, who were included in Chinese Longitudinal Healthy Longevity Survey (CLHLS) 2009. Cox regression model was used to evaluate the association between anemia or different hemoglobin levels and mortality.</p><p><b>RESULTS</b>Among the 929 subjects, the prevalence of anemia was 49.6%, the main form of anemia was normocytic anemia. During the three year follow-up period, a total of 447 subjects died, the overall mortality was 49.8% (56.0% in subjects with anemia and 43.3% in subjects without anemia). Compared with the subjects without anemia, the mortality risk increased by 25% in the subjects with anemia after adjusting confounding factors (HR = 1.25, 95% CI: 1.03-1.52). Macrocytic anemia, simplex microcytic anemia and microcytic hypochromic anemia were all associated with the increased mortality in the oldest old people. Compared with the subjects with low hemoglobin concentration, the subjects with high hemoglobin concentration had a lower mortality risk, and the association was more obvious in women.</p><p><b>CONCLUSION</b>Anemia and low hemoglobin concentration were associated with higher mortality risk in the oldest old people in China, indicating the importance of anemia prevention and treatment among this population.</p>

Hematological and histopathological evaluation of wildlife green turtles (Chelonia mydas) with and without fibropapilloma from the north coast of São Paulo state, Brazil / Avaliação hematológica e histopatológica de tartarugas verdes de vida livre (Chelonia mydas) com e sem fibropapilomas do litoral norte do estado de São Paulo

Blood profiles were determined in 47 juvenile green turtles, Chelonia mydas, from São Paulo northern coast, Brazil. Twenty-nine were affected by fibropapillomas and 18 were tumor free. Complete gross and histopathologic examinations of the fibropapillo were performed in 21 green turtles. Biometrical data, size, location and amount of tumors were recorded. The papillomas varied in morphology, location, size, color and texture. We found hyperplastic stroma, rich in blood vessels and connective tissue with increase in thickness of the dermis. The tumors w0ere classified as papillomas or fibropapillomas according to their epithelial and/or stromal proliferation. The lowest Mean Corpuscular Hemoglobin (HCM) values were observed in affected turtles.

Realizou-se hemograma de 47 tartarugas verdes, Chelonia mydas, provenientes de uma população de vida livre do litoral do estado de São Paulo, Brasil. Dessas, 29 apresentavam fibropapilomas e 18 não apresentavam formação tumoral. Fez-se avaliação macroscópica e histopatológica dos tumores de 21 tartarugas verdes com fibropapilomatose. Foram coletados dados biométricos dos animais, avaliação de tamanho, localização e quantidade dos tumores. As formações papilomatosas apresentaram morfologia, localização, tamanho, coloração e textura variados. Observou-se um estroma hiperplásico, rico em vasos sanguíneos e grande quantidade de tecido conjuntivo, resultando em um espessamento da derme. As formações foram classificadas como papilomas e/ou fibropapilomas, dependendo da proliferação epitelial e/ou de estroma, respectivamente. Os parâmetros hematológicos apresentaram variação, em função do acometimento tumoral, somente para Hemoglobina Corpuscular Média (HCM), sendo observados valores menores em animais com fibropapilomas.

Effects of different doses of iron supplement on function of mitochondrial respiration of liver during exercise-induced hypochromic rats / 中国应用生理学杂志

<p><b>OBJECTIVE</b>To investigate the effects of iron supplement on function of mitochondrial respiratory of liver during exercise-induced hypochromic rats.</p><p><b>METHOD</b>Forty healthy male Wistar rats were randomized into 5 groups (n = 8): static control (C), exercise-training (T), training with supplementation of small dose iron (S + T), training with supplementation of middle dose iron (M + T) and training with supplementation of large dose iron (L + T). Training performed incremental exercise for 8 weeks, 6 days/week, iron supplementation from the fifth week. Liver were prepared immediately after exhaustive running. Liver mitochondria were extracted by differential centrifugation. Spectrophotometric analysis was used to evaluate activities of electron transport chain complex (C) I-IV in liver mitochondria.</p><p><b>RESULTS</b>(1) C I, CII and CIV activities in T group were increased significantly (P < 0.05, P < 0.01), CI - C IV activities in S + T, M + T and L + T groups were increased significantly (P < 0.05, P < 0.01) compared with those in C group. (2) CII activity in S + T group was increased remarkably (P < 0.05); CIII and CIV activities in M + T group were increased remarkably (P < 0.01); CI - CIV activities in L+ T group were increased remarkably (P < 0.05, P < 0.01) compared with those in T group.</p><p><b>CONCLUSION</b>Large load exercise training composite iron supplementation can improve function of mitochondrial respiration of liver and the aerobic capacity. From the athletic ability , the middle dose iron supplementation is better during large load exercise training.</p>

Incidence, Molecular Characteristics and Pathogenicity of Gibberella fujikuroi Species Complex Associated with Rice Seeds from Asian Countries

Gibberella fujikuroi species complex (GFSC) was isolated from rice (Oryza sativa L.) seed samples from ten Asian countries and investigated for incidence of GFSC, molecular characteristics, and pathogenicity. Regardless of geographic origin, GFSC was detected with incidences ranging from 3% to 80%. Four species, Fusarium fujikuroi, F. concentricum, F. proliferatum, and F. verticillioides, were found to show an association with rice seeds, with F. fujikuroi being the predominant species. In phylogenetic analyses of DNA sequences, no relationship was found between species, isolates, and geographic sources of samples. Unidentified fragments of the beta-tubulin gene were observed in ten isolates of F. fujikuroi and F. verticillioides. With the exception of three isolates of F. fujikuroi, F. fujikuroi, F. proliferatum, and F. verticillioides were found to have FUM1 (the fumonisin biosynthetic gene); however, FUM1 was not found in isolates of F. concentricum. Results of pathogenicity testing showed that all isolates caused reduced germination of rice seed. In addition, F. fujikuroi and F. concentricum caused typical symptoms of bakanae, leaf elongation and chlorosis, whereas F. proliferatum and F. verticillioides only caused stunting of seedlings. These findings provide insight into the characteristics of GFSC associated with rice seeds and might be helpful in development of strategies for management of bakanae.

Factors affecting serum ferritin level in school going children of district Bannu

To investigate the factors affecting serum ferritin level in school going healthy children in Distt Bannu, Khyber Pakhtunkhwa and to know the potential risk in children associated with hypoferritinemia, leading to microcytic hypochromic anemia in our population. This cross sectional study was carried out at Institute of Kidney Diseases [IKD] Hayatabad Medical Complex Peshawar in one year time from March 2010- March 2011. A total of 113 healthy children of both genders were selected with no history of bleeding, blood transfusion, any extensive surgery or infections. 05cc blood sample was taken from each child. Out of which, 03cc were used for ferritin estimation by using the Roche Elecsys 2010 Immunoassay Analyzer, while 02cc were used for basic hematological examination, using Sysmex k-1000. There was no significant relationship between serum ferritin of boys and girls [p>0.05].However boys had high ferritin level as compared to girls. While comparing serum ferritin in rural and urban areas it has been observed that serum ferritin was high in rural areas. Moreover serum ferritin was positively correlated with hygienic conditions [p=0.01] and dietary intake [p=0.00]. The finding of our study reveals that serum ferritin level is quite low in female population in both urban and rural areas, hence anemia and low iron status are more prevalent in female population. Environmental conditions, socioeconomic factors and diet habits are the main factors, which affect ferritin level in children

A Case of Heterozygous alpha(+)-Thalassemia Diagnosed in a Korean Family by Using Multiplex Ligation-Dependent Probe Amplification / 임상검사와정도관리

Alpha-thalassemia (alpha-thalassemia), which is prevalent in the Mediterranean region, is caused by deficient synthesis of the alpha-globin chains. It is commonly caused by HBA1 and/or HBA2 gene deletion and is diagnosed by DNA sequence analysis. The proband was a 38-year-old woman who was found to have microcytic and hypochromic anemia on a routine health checkup. Results of the Hb electrophoresis (EP) and direct sequencing of the HBA1 and HBA2 genes were found to be normal. As multiplex ligation-dependent probe amplification (MLPA) for the HBA1 and HBA2 genes revealed heterozygous deletion, she was diagnosed with heterozygous alpha+-thalassemia. Although routine laboratory tests revealed similar findings in the proband's father, brother and niece, MLPA revealed heterozygous deletions of the HBA1 or HBA2 gene in her brother and niece. In summary, we report a case of heterozygous alpha+-thalassemia in a Korean family that was detected by MLPA. We recommend that patients with suspected hemoglobinopathies should be followed-up further with MLPA, especially when Hb EP shows a normal pattern.