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Worldwide, there is an urgent need to develop energy-cum-carbon smart and cost-effective rice production systems for farmer's adoption. Data were collected from 280 farmer's fields representing the South Asia rice production system. Out of these 75 fields following transplanted rice (TPR), 55 fields of wet direct seeded rice (WDSR), 60 fields of drill sown direct seeded rice in line (DSR L), 60 fields of traditional direct seeded rice (DSR) and 30 fields of DSR + beushning (DSR + B). Results show that grain and straw yields in the TPR were 6056 and 7752 kg ha-1, respectively; however, they were neither profitable, energy efficient, or eco-friendly. At the same time, the grain and straw yields in DSR L were recorded by 5832 and 7757 kg ha-1, respectively. It was profitable with the highest net returns (1111.5 US$ ha-1), energy use efficiency (12.77), energy productivity (0.41 kg MJ-1), energy profitability (11.77 US$ MJ-1), energy output efficiency (1314.3 MJ day-1) environment friendly in terms of carbon efficiency 7.20, carbon sustainability index (6.20) and had most diminutive carbon footprint (0.14 kg CO2 eq kg-1 grain) with a comparable carbon credit. DSR L is productive, economically viable, energy efficient, and environmentally safer among rice production systems.
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Intensive tillage based management practices are threatening soil quality and systems sustainability in the rice-wheat belt of Northwest India. Furthermore, it is accentuated with puddling of soil, which disrupts soil aggregates. Conservation agriculture (CA) practices involving zero tillage, crop residue management and suitable crop rotation can serve as better alternative to conventional agriculture for maintaining soil quality. Soil organic carbon is an important determinant of soil quality, playing critical role in food production, mitigation and adaptation to climate change as well as performs many ecosystem functions. To understand the turnover of soil carbon in different forms (Total organic carbon-TOC; aggregate associated carbon-AAC; particulate organic carbon- POC), soil aggregation and crop productivity with different management practices, one conventional agriculture based scenario and three CA based crop management scenarios namely conventional rice-wheat system (Sc1), partial CA based rice-wheat-mungbean system (Sc2), full CA-based rice-wheat-mungbean system (Sc3) and maize-wheat-mungbean system (Sc4) were evaluated. TOC was increased by 71%, 68% and 25% after 4 years of the experiment and 75%, 80% and 38% after 6 years of the experiment in Sc4, Sc3 and Sc2, respectively, over Sc1 at 0-15 cm soil depth. After 4 years of the experiment, 38.5% and 5.0% and after 6 years 50.8% and 24.4% improvement in total water stable aggregates at 0-15 and 15-30 cm soil depth, respectively was observed in CA-based scenarios over Sc1. Higher aggregate indices were associated with Sc3 at 0-15 cm soil depth than others. Among the size classes of aggregates, highest aggregate associated C (8.94 g kg-1) was retained in the 1-0.5 mm size class under CA-based scenarios. After 6 years, higher POC was associated with Sc4 (116%). CA-based rice/maize system (Sc3 and Sc4) showed higher productivity than Sc1. Therefore, CA could be a potential management practice in rice-wheat cropping system of Northwest India to improve the soil carbon pools through maintaining soil aggregation and productivity.
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BACKGROUND: Exposures during the prenatal period may have lasting effects on maternal and child health outcomes. To better understand the effects of the in utero environment on children's short- and long-term health, large representative pregnancy cohorts with comprehensive information on a broad range of environmental influences (including biological and behavioral) and the ability to link to prenatal, child and maternal health outcomes are needed. The Research Program on Genes, Environment and Health (RPGEH) pregnancy cohort at Kaiser Permanente Northern California (KPNC) was established to create a resource for conducting research to better understand factors influencing women's and children's health. Recruitment is integrated into routine clinical prenatal care at KPNC, an integrated health care delivery system. We detail the study design, data collection, and methodologies for establishing this cohort. We also describe the baseline characteristics and the cohort's representativeness of the underlying pregnant population in KPNC. METHODS: While recruitment is ongoing, as of October 2014, the RPGEH pregnancy cohort included 16,977 pregnancies (53 % from racial and ethnic minorities). RPGEH pregnancy cohort participants consented to have blood samples obtained in the first trimester (mean gestational age 9.1 weeks ± 4.2 SD) and second trimester (mean gestational age 18.1 weeks ± 5.5 SD) to be stored for future use. Women were invited to complete a questionnaire on health history and lifestyle. Information on women's clinical and health assessments before, during and after pregnancy and women and children's health outcomes are available in the health system's electronic health records, which also allows long-term follow-up. DISCUSSION: This large, racially- and ethnically-diverse cohort of pregnancies with prenatal biospecimens and clinical data is a valuable resource for future studies on in utero environmental exposures and maternal and child perinatal and long term health outcomes. The baseline characteristics of RPGEH Pregnancy Cohort demonstrate that it is highly representative of the underlying population living in the broader community in Northern California.
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Exposição Materna/estatística & dados numéricos , Trimestres da Gravidez/sangue , Cuidado Pré-Natal/estatística & dados numéricos , Efeitos Tardios da Exposição Pré-Natal/etiologia , Adulto , California , Pré-Escolar , Estudos de Coortes , Meio Ambiente , Feminino , Humanos , Lactente , Recém-Nascido , Programas de Assistência Gerenciada , Exposição Materna/efeitos adversos , Gravidez , Trimestres da Gravidez/genética , Efeitos Tardios da Exposição Pré-Natal/genética , Projetos de Pesquisa , Fatores de Risco , Inquéritos e Questionários , Adulto JovemRESUMO
A reverse phase high performance liquid chromatography method was developed for simultaneous estimation of nitazoxanide and ofloxacin in tablet formulation. The separation and quantification was achieved by Hiq Sil C(18)V Size 4.6 mm Ø (*)250 mm column in isocratic mode, with mobile phase consisting of acetonitrile-methanol-0.4 M citric acid, (60:30:10, v/v/v). Citric acid used to stabilize nitazoxanide and ofloxacin in mobile phase. The mobile phase was pumped at a rate of 0.6 ml/min and the detection was carried out at 304 nm. The retention time of ofloxacin and nitazoxanide was found to be 3.122 and 5.902 min, respectively. The method was validated for linearity, accuracy, and precision. Linearity for ofloxacin and nitazoxanide were in the range 2-36 µg/ml and 5-90 µg/ml, respectively. The developed method was found to be accurate, precise and selective for simultaneous estimation of ofloxacin and nitazoxanide in tablets.
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BACKGROUND: The presence of least dense dry air and highly dense cortical bone in the path of radiation and the position of source, near or far from the surface of patient, affects the exact dose delivery like in breast brachytherapy. AIM: This study aims to find out the dose difference in the presence of inhomogeneities like cortical bone and dry air as well as to find out difference of dose due to position of source in water phantom of high dose rate (HDR) 192 Ir nucletron microselectron v2 (mHDRv2) brachytherapy source using Monte Carlo (MC) simulation EGSnrc code, so that the results could be used in Treatment Planning System (TPS) for more precise brachytherapy treatment. SETTINGS AND DESIGN: The settings and design are done using different software of the computer. METHODS AND MATERIALS: For this study, the said source, water phantom of volume 30 x 30 x 30 cm 3, inhomogeneities each of volume 1 x 2 x 2 cm3 with their position, water of water phantom and position of source are modeled using three-dimensional MC EGSnrc code. STATISTICAL ANALYSIS USED: Mean and probability are used for results and discussion. RESULTS: The % relative dose difference is calculated here as 5.5 to 6.5% higher and 4.5 to 5% lower in the presence of air and cortical bone respectively at transverse axis of the source, which may be due to difference of linear attenuation coefficients of the inhomogeneities. However, when the source was positioned at 1 cm distance from the surface of water phantom, the near points between 1 to 2 cm and 3 to 8 cm. from the source, at its transverse axis, were 2 to 3.5% and 4 to 16% underdose to the dose when the source was positioned at mid-point of water phantom. This may be due to lack of back scatter material when the source was positioned very near to the surface of said water phantom and overlap of the additional cause of missing scatter component with the primary dose for near points from the source. These results were found in good agreement with literature data. CONCLUSION: The results can be used in TPS.
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Braquiterapia/métodos , Radioisótopos de Irídio/administração & dosagem , Método de Monte Carlo , Imagens de Fantasmas , Dosagem Radioterapêutica/normas , Eficiência Biológica Relativa , Espalhamento de RadiaçãoRESUMO
AIM: To report the outcome of carcinoma cervix patients treated radically by external beam radiotherapy and high dose rate intracavitary radiotherapy. MATERIAL AND METHODS: From January 2005 to December 2006, a total of 709 newly diagnosed cases of carcinoma cervix were reported in our department. All cases were staged according to the International Federation of Gynecologist and Oncologist staging system. Out of 709 cases, 342 completed radical radiotherapy and were retrospectively analyzed for the presence of local residual disease, local recurrence, distant metastases, radiation reaction, and disease free survival. RESULTS: There were 11(3.22%), 82(23.98%), 232(67.83%), and 17(4.97%) patients in stages I, II, III, and IV, respectively. The median follow up time for all patients was 36 months (range 3 -54 months). The overall treatment time (OTT) ranged from 52 to 69 days (median 58 days). The 3 year disease free survival rate was 81.8%, 70.7%, 40.08%, and 11.76% for stages I, II, III, and IV, respectively. There were 91 (26.6%) cases with local residual diseases, 27(7.9%) developed distant metastasis, and 18(5.26%) pts had local recurrence. DISCUSSION: The results of this study suggest that radical radiotherapy with HDR brachytherapy was appropriate for the treatment of early staged cancer of uterine cervix. For locally advanced cancer of cervix addition of concurrent chemotherapy, higher radiation doses, reduction of overall treatment time to less than 8 weeks, and use of latest radiotherapy techniques such as IMRT is recommended to improve the results.
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Neoplasias do Colo do Útero/radioterapia , Adulto , Idoso , Intervalo Livre de Doença , Relação Dose-Resposta à Radiação , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
This study was designed to investigate the antibiotic resistance, colicinogeny, serotyping and atypical biochemical characteristics of 41 Shiga toxin-producing Escherichia coli (STEC) strains detected using polymerase chain reaction from 90 E. coli strains isolated from 46 diarrhoeic calves. The STEC strains belonged to 14 different serogroups. Seventeen per cent of the STEC strains carried the eaeA gene while 14.28% of the 49 non-STEC strains were eaeA positive. Twenty eight (68.29%) of the 41 STEC strains were rhamnose non-fermentors. All the STEC strains revealed resistance to at least three of the antibiotics tested. 100% resistance was found against kanamycin and cephalexin followed by cephaloridine, enrofloxacin, amikacin, ampicillin, tetracycline, ceftiofur, ciprofloxacin, colistin and co-trimoxazole. Eighteen (44%) of the STEC strains produced colicin and all these colicinogenic strains were resistant to three or more antibiotics. Eleven STEC strains (26.82%) showed urease activity. The results of this study suggest that diarrhoeic calves are an important reservoir of STEC strains that are potentially pathogenic for farm animals and humans. Moreover, rhamnose fermentation, colicinogeny and atypical biochemical behaviour, such as urease activity, may serve as important markers or diagnostic tools for epidemiological surveys to trace the source of infection in disease outbreaks.
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Doenças dos Bovinos/microbiologia , Diarreia/veterinária , Farmacorresistência Bacteriana , Infecções por Escherichia coli/veterinária , Saúde Pública , Escherichia coli Shiga Toxigênica , Animais , Animais Recém-Nascidos , Antibacterianos/farmacologia , Bovinos , Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/transmissão , Diarreia/epidemiologia , Diarreia/microbiologia , Reservatórios de Doenças/microbiologia , Reservatórios de Doenças/veterinária , Infecções por Escherichia coli/epidemiologia , Infecções por Escherichia coli/microbiologia , Infecções por Escherichia coli/transmissão , Feminino , Humanos , Índia/epidemiologia , Masculino , Testes de Sensibilidade Microbiana , Filogenia , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase/veterinária , Sorotipagem , Escherichia coli Shiga Toxigênica/classificação , Escherichia coli Shiga Toxigênica/efeitos dos fármacos , ZoonosesRESUMO
Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in elderly people. The clinico-hematological profile and treatment outcome of patients with CLL were assessed using retrospective case record analysis over 11 years. There were 95 (75 males: 20 females) patients with a median age of 61 years. Thirty patients were aged 55 years or less (young CLL patients) and 65 were more than 55 years of age (elder CLL patients). Sixty percent patients had non-specific complaints, such as weakness, cough and indigestion. Twenty-six (27%) patients had pallor and 24 (25%) had fever as initial presenting manifestation. Bleeding manifestations were seen in 7 patients. Seven patients were diagnosed incidentally. Lymphadenopathy, splenomegaly and hepatomegaly were seen in 52 (55%), 63 (66%) and 60 (63%) patients, respectively. The median white blood cell count and absolute lymphocyte counts were 70,600 and 51,490/mul, respectively. Three patients had autoimmune hemolytic anemia. Twenty-five patients (26%) had anemia with hemoglobin < 11 g/dl and thrombocytopenia with platelet count 100 x 10(3)/mm(3) was seen in 17 (18%). Interstitial nodular, mixed and diffuse bone marrow (BM) involvement was seen in 10.2, 67.3, 6.1 and 16.3% cases, respectively. Eighteen (60%) young patients and 35 (54%) older patients required treatment with chlorambucil. The mean time from initial diagnosis to treatment was 4.6 +/- 10.7 months. None of our patient attained complete response. Six patients obtained partial response. Median duration of chlorambucil was 7 months (1-86 months). Forty-six patients had stable disease. Three patients died. Median survival of study group was 4 years (8 months-13 years). In older CLL it was 4 years (8 months-11 years) and in young patients, survival duration was 5.5 years (1-13 years).
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Leucemia Linfocítica Crônica de Células B/diagnóstico , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Anemia , Clorambucila/uso terapêutico , Feminino , Testes Hematológicos , Hepatomegalia , Humanos , Índia , Leucemia Linfocítica Crônica de Células B/complicações , Leucemia Linfocítica Crônica de Células B/epidemiologia , Leucemia Linfocítica Crônica de Células B/mortalidade , Doenças Linfáticas , Masculino , Pessoa de Meia-Idade , Esplenomegalia , Análise de Sobrevida , TrombocitopeniaRESUMO
Insulin-like growth factor-binding protein-3 (IGFBP-3) is a protein that binds the majority of insulin-like growth factors in circulation for regulation of its action on growth and metabolism of the animals. Animals belonging to Hariana, Holstein-Friesian (HF) and their crossbreds (HF x Hariana) were studied using polymerase chain reaction-restriction fragment length polymorphism and nucleotide sequencing of the IGFBP-3 gene. A 651-bp fragment of the IGFBP-3 gene spanning over a part of exon 2, complete intron 2, exon 3 and a part of intron 3 was amplified and digested with HaeIII restriction enzyme. Three patterns of restriction fragments were observed in HF and crossbred cattle revealing polymorphism in both the populations. The frequency of AA, AB and BB genotypes was 0.65, 0.32 and 0.03 in crossbreds and 0.29, 0.65 and 0.06 in HF respectively. The allelic frequency of the A and B allele was 0.81 and 0.19 in crossbreds and 0.62 and 0.38 in HF cattle respectively. Only one restriction pattern (AA genotype) was observed in all the animals of Hariana breed of Bos indicus showing the absence of polymorphism. Nucleotide sequencing revealed a C --> A mutation in the intron 2 region of the IGFBP-3 gene as the cause of the polymorphism. Least squares analysis revealed a significant effect (p < 0.05) of genotypes on birth weight and body weight (weight at 12, 18 and 24 months of age) of the animals. Animals of AB genotype showed higher birth weight and body weight than the animals possessing AA genotype.
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Peso ao Nascer/genética , Peso Corporal/genética , Bovinos/genética , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Animais , Sequência de Bases , Cruzamentos Genéticos , Frequência do Gene , Análise dos Mínimos Quadrados , Dados de Sequência Molecular , Mutação Puntual/genética , Polimorfismo de Fragmento de Restrição , Análise de Sequência de DNAAssuntos
Doenças em Gêmeos/genética , Família , Índice de Gravidade de Doença , Gêmeos Monozigóticos/genética , Doenças de von Willebrand , Testes de Coagulação Sanguínea , Marcadores Genéticos , Heterozigoto , Humanos , Íntrons , Polimorfismo de Nucleotídeo Único , Doenças de von Willebrand/classificação , Doenças de von Willebrand/diagnóstico , Doenças de von Willebrand/genéticaRESUMO
A 2-year-old boy presented with fever, recurrent infections and multiple skin lesions. He had anemia, eczematous skin lesions, cervical lymph node enlargement, hepatomegaly and lytic lesions on skull x-ray. The skin infiltrates were CD 68, CD 1a positive and S100 positive. He was diagnosed as disseminated langerhans cell histiocytosis. The occurrence of histiocytosis is reviewed and possible treatment is discussed.
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Histiocitose de Células de Langerhans/diagnóstico , Antígenos CD/metabolismo , Antígenos CD1/metabolismo , Antígenos de Diferenciação Mielomonocítica/metabolismo , Pré-Escolar , Histiocitose de Células de Langerhans/imunologia , Histiocitose de Células de Langerhans/terapia , Humanos , Imuno-Histoquímica , Masculino , Proteínas S100/metabolismoAssuntos
Câmara Anterior , Neoplasias Oculares/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Recidiva , Uveíte Anterior/etiologiaRESUMO
The clinico-hematological profile and treatment outcome of patients with autoimmune hemolytic anemia (AIHA) were assessed using a retrospective case record analysis. There were 79 (52 primary; 27 secondary) consecutive patients identified with a median age of 30.5 years. The main presenting complaints were pallor (94%), fever (46%), jaundice (51%), bleeding manifestations (10%) and splenomegaly (68%). Jaundice was much more common in primary (63%) as opposed to secondary (26%) disease. The direct antiglobulin test was negative in six patients. Oral prednisolone produced remission in 87.5% patients. Six patients (three children, three adults) relapsed after a median period of 2 months after response. All of these responded to a second course of steroids, in a median period of 14 days. No correlation was found between response and the parameters of age, sex, jaundice, low pretreatment hemoglobin, reticulocyte count, total leucocyte count (TLC), platelet count, subtype of AIHA and hepatosplenomegaly. Relapse correlated with increased duration between the onset of symptoms and treatment (r = 0.996; p = 0.0001).
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Anemia Hemolítica Autoimune/tratamento farmacológico , Anti-Inflamatórios/administração & dosagem , Prednisolona/administração & dosagem , Administração Oral , Adolescente , Adulto , Idoso , Anemia Hemolítica Autoimune/sangue , Anemia Hemolítica Autoimune/complicações , Criança , Pré-Escolar , Feminino , Humanos , Índia , Lactente , Icterícia/sangue , Icterícia/dietoterapia , Icterícia/etiologia , Masculino , Pessoa de Meia-Idade , Recidiva , Indução de Remissão , Estudos Retrospectivos , Fatores de TempoRESUMO
INTRODUCTION: The limitation of cytogenetic analysis is that the Ph chromosome cannot be detected in clumped metaphase or in interphase cells. Fluorescence in situ hybridization (FISH) is a highly sensitive molecular genetic technique, which enables to detect break point cluster region--Abelson (BCR-ABL) complex and minimal residual disease in all Ph positive CML patients not only in metaphase but also in interphase cells. AIMS: To detect Ph chromosome in CML patients by the use of conventional cytogenetics and FISH. MATERIAL AND METHODS: The bone marrow samples were collected in heparinised syringe from 35 diagnosed CML patients and transported to cytogenetic laboratory for chromosomal analysis. Conventional karyotype was prepared by direct harvesting and short-term culture. The FISH analysis was carried out on interphase cells of two patients to confirm the cytogenetic diagnosis. RESULTS: Out of 35 CML patients, 17 (49.9%) were 100% Philadelphia positive, 10(28.5%) were 50-70% Ph+ mosaics and 3(9%) were 100% Ph negative. In 5 patients (14.25%) cytogenetic analysis failed to confirm the presence or absence of Ph chromosome. FISH was carried out in interphase cells from bone marrow preparations of two patients. The signals for BCR-ABL fusion gene was absent in Ph- negative CML patients. In Ph positive patients, the FISH analysis detected BCR-ABL fusion gene seen as a yellow signal on interphase cells. CONCLUSION: Conventional cytogenetics is a useful method for detection of Ph chromosome in metaphase stage of cell division. FISH can be used in interphase stage of cell division for the same purpose.
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Análise Citogenética/métodos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Cromossomo Filadélfia , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva/classificação , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnósticoRESUMO
This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5' and 3' boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development.
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Genoma , Camundongos/genética , Regiões Terminadoras Genéticas , Sítio de Iniciação de Transcrição , Transcrição Gênica , Regiões 3' não Traduzidas , Animais , Sequência de Bases , Sequência Conservada , DNA Complementar/química , Genoma Humano , Genômica , Humanos , Regiões Promotoras Genéticas , Proteínas/genética , RNA/química , RNA/classificação , Splicing de RNA , RNA não Traduzido/química , Sequências Reguladoras de Ácido RibonucleicoRESUMO
Complete combustion of dilute methane alone or a dilute mixture of methane and propane over transition-metal (viz. Mn, Co, Cr, Fe, and Ni)-doped ZrO2 (cubic) catalysts at different temperatures (523-873 K) and a space velocity of 51,000 cm3 x g(-1) x h(-1) has been investigated for controlling methane and propane emissions from exhaust gases. The catalysts are compared for their catalytic ignition temperature and activity in the combustion of propane and methane in the presence of each other. The methane combustion activity of all the catalysts is strongly influenced by the presence of propane; it is decreased markedly. In the combustion of mixed methane and propane the Mn-doped ZrO2 and Cr-doped ZrO2 catalysts show the highest activity in the combustion of methane and propane, respectively; the Ni-doped ZrO2 shows the lowest activity in both cases. In the combustion of mixed methane and propanethe propane combustion is enhanced butthe methane combustion retarded when the Cr-doped ZrO2 and Mn-doped ZrO2 catalysts in a 1:1 ratio are used together in different ways (mixed or in layers).
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Poluição do Ar/prevenção & controle , Metano/química , Propano/química , Zircônio/química , Catálise , Cromatografia Gasosa , Combustíveis Fósseis , Metais Pesados/química , Temperatura , Emissões de Veículos/análiseRESUMO
Effect of pyridoxine (Vitamin-B(6)) supplementation on calciuria and oxaluria levels of 20 normal healthy persons and 17 urinary stone patients has been studied. Mean 24 hr urinary calcium and oxalate levels of controls (healthy persons) and stone patients were estimated in presupplementation period and at every 20 days interval during supplementation. Stone patients were divided into two groups viz., mild hyperoxaluriacs and moderate hyperoxaluriacs, based on their pre-supplementation (base line) oxaluria levels. 60 days of pyridoxine supplementation, at the rate of 10 mg/day, resulted in a significant decrease (p<0.01 for mild hyperoxaluriacs and p<0.001 for moderate hyperoxaluriacs) in mean 24 hr urinary oxalate levels of urinary stone patients. The corresponding decrement in mean oxaluria level of controls was, however, only mild. The decrease of mean calciuria level of controls as well as stone patients, upon pyridoxine supplementation, were also found to be only mild and not significant. Utility of pyridoxine therapy in oxalate urolithiasis has been discussed in the light of results.
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BACKGROUND: Mutations in the HFE gene have been shown to be strongly associated with hereditary haemochromatosis, an autosomal recessive disease of iron overloading. The majority of patients with hereditary haemochromatosis possess a homozygous mutation C282Y that disrupts the binding of the HFE gene with beta2 microglobulin and prevents its surface expression. Another HFE mutation H63D is known to increase the relative risk of developing hereditary haemochromatosis. This disease is rare in India although secondary haemochromatosis is commonly seen among children suffering from thalassaemia major. The status of HFE mutations has not been explored among Indians, particularly in patients with thalassaemia major. It is also possible that in India clinical haemochromatosis could be masked by iron deficiency. METHODS: We examined a cohort of 59 unrelated, healthy individuals from north India, 57 from south India and 75 thalassaemia major patients from north India for HFE mutations (C282Y and H63D) in cis/trans by the polymerase chain reaction sequence-specific primer method. RESULTS: The C282Y and H63D mutations in the HFE gene were rare among Indians. Although the HFE mutations were increased among patients of thalassaemia their effect on iron burden or disease pathogenesis remains unclear. CONCLUSIONS: Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations in the HFE gene. Long-term follow up studies would be required to determine whether the relatively higher frequency of these mutations among patients of thalassaemia has any influence on iron accumulation.