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1.
BMC Plant Biol ; 24(1): 218, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38532351

RESUMO

BACKGROUND: In viticulture, iron (Fe) chlorosis is a common abiotic stress that impairs plant development and leads to yield and quality losses. Under low availability of the metal, the applied N form (nitrate and ammonium) can play a role in promoting or mitigating Fe deficiency stresses. However, the processes involved are not clear in grapevine. Therefore, the aim of this study was to investigate the response of two grapevine rootstocks to the interaction between N forms and Fe uptake. This process was evaluated in a hydroponic experiment using two ungrafted grapevine rootstocks Fercal (Vitis berlandieri x V. vinifera) tolerant to deficiency induced Fe chlorosis and Couderc 3309 (V. riparia x V. rupestris) susceptible to deficiency induced Fe chlorosis. RESULTS: The results could differentiate Fe deficiency effects, N-forms effects, and rootstock effects. Interveinal chlorosis of young leaves appeared earlier on 3309 C from the second week of treatment with NO3-/NH4+ (1:0)/-Fe, while Fercal leaves showed less severe symptoms after four weeks of treatment, corresponding to decreased chlorophyll concentrations lowered by 75% in 3309 C and 57% in Fercal. Ferric chelate reductase (FCR) activity was by trend enhanced under Fe deficiency in Fercal with both N combinations, whereas 3309 C showed an increase in FCR activity under Fe deficiency only with NO3-/NH4+ (1:1) treatment. With the transcriptome analysis, Gene Ontology (GO) revealed multiple biological processes and molecular functions that were significantly regulated in grapevine rootstocks under Fe-deficient conditions, with more genes regulated in Fercal responses, especially when both forms of N were supplied. Furthermore, the expression of genes involved in the auxin and abscisic acid metabolic pathways was markedly increased by the equal supply of both forms of N under Fe deficiency conditions. In addition, changes in the expression of genes related to Fe uptake, regulation, and transport reflected the different responses of the two grapevine rootstocks to different N forms. CONCLUSIONS: Results show a clear contribution of N forms to the response of the two grapevine rootstocks under Fe deficiency, highlighting the importance of providing both N forms (nitrate and ammonium) in an appropriate ratio in order to ease the rootstock responses to Fe deficiency.


Assuntos
Compostos de Amônio , Anemia Hipocrômica , Deficiências de Ferro , Vitis , Nitrogênio/metabolismo , Nitratos/metabolismo , Anemia Hipocrômica/metabolismo , Vitis/genética , Compostos de Amônio/metabolismo , Raízes de Plantas/metabolismo
2.
Biomed Res Int ; 2024: 8664803, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38322302

RESUMO

Introduction: ß-Thalassaemia is the most common genetic disorder and is considered as a major public health concern in Iran. Different countrywide studies have shown a heterogeneous mutational basis of ß-thalassaemia with different frequencies in each area. This study is aimed at investigating the common and rare mutations in Mazandaran and Golestan, northern provinces of Iran. Methods: 5425 microcytic and hypochromic individuals were investigated from Mazandaran and Golestan provinces. From these, 1323 beta carrier or affected individuals were selected where 938 persons were from Mazandaran and 385 people were from Golestan province, respectively. Result: 53 different mutations were identified, IVSII-1 (G>A) was the most common (59.14%) followed by Cd 22/23/24 (-7 bp) (5.34%), Cd 8 (-AA) (4.93%), Cd30 (G>A) (4.00%), and IVSI-5 (G>C) (3.70%) with a total of 77.11% in Mazandaran Province, respectively. In Golestan Province, IVSI-5 (G>C) was the most frequent (44.62%) followed by IVSII-1 (G>A) (27.18%), Cd 15 (TGG>TAG) (4.36%), Fr 8/9(+G) (3.85%), and Cd 8(-AA) (2.05%) with a total of 82.06%, respectively. From the 53 different mutations, 22 numbers have been observed in both provinces. Two deletions of the beta gene named Sicilian and Asian-Indian have been detected in Mazandaran with a frequency of 0.72% each. Conclusion: The 53 different mutations identified in this study were the most ever reported mutations in the country. Due to diversity of different ethnic groups, there are many varieties of mutation in beta globin gene in Iran. It could be assumed that both founder effect and natural selection caused by migration from neighboring areas have complemented each other to produce the high frequency of unique alleles within each region.


Assuntos
Anemia Hipocrômica , Talassemia beta , Humanos , Talassemia beta/genética , Irã (Geográfico) , Cádmio , Mutação
3.
Plant J ; 117(2): 483-497, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37901950

RESUMO

Plants grown under low magnesium (Mg) soils are highly susceptible to encountering light intensities that exceed the capacity of photosynthesis (A), leading to a depression of photosynthetic efficiency and eventually to photooxidation (i.e., leaf chlorosis). Yet, it remains unclear which processes play a key role in limiting the photosynthetic energy utilization of Mg-deficient leaves, and whether the plasticity of A in acclimation to irradiance could have cross-talk with Mg, hence accelerating or mitigating the photodamage. We investigated the light acclimation responses of rapeseed (Brassica napus) grown under low- and adequate-Mg conditions. Magnesium deficiency considerably decreased rapeseed growth and leaf A, to a greater extent under high than under low light, which is associated with higher level of superoxide anion radical and more severe leaf chlorosis. This difference was mainly attributable to a greater depression in dark reaction under high light, with a higher Rubisco fallover and a more limited mesophyll conductance to CO2 (gm ). Plants grown under high irradiance enhanced the content and activity of Rubisco and gm to optimally utilize more light energy absorbed. However, Mg deficiency could not fulfill the need to activate the higher level of Rubisco and Rubisco activase in leaves of high-light-grown plants, leading to lower Rubisco activation and carboxylation rate. Additionally, Mg-deficient leaves under high light invested more carbon per leaf area to construct a compact leaf structure with smaller intercellular airspaces, lower surface area of chloroplast exposed to intercellular airspaces, and CO2 diffusion conductance through cytosol. These caused a more severe decrease in within-leaf CO2 diffusion rate and substrate availability. Taken together, plant plasticity helps to improve photosynthetic energy utilization under high light but aggravates the photooxidative damage once the Mg nutrition becomes insufficient.


Assuntos
Anemia Hipocrômica , Brassica napus , Brassica napus/metabolismo , Ribulose-Bifosfato Carboxilase/metabolismo , Magnésio , Dióxido de Carbono , Fotossíntese/fisiologia , Folhas de Planta/metabolismo
4.
J Exp Bot ; 75(3): 935-946, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-37904595

RESUMO

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.


Assuntos
Anemia Hipocrômica , Camellia sinensis , Liases , Camellia sinensis/genética , Camellia sinensis/metabolismo , Clorofila/metabolismo , Chá/metabolismo , Aminoácidos/metabolismo , Mutação , Anemia Hipocrômica/metabolismo , Folhas de Planta/genética , Folhas de Planta/metabolismo
5.
Genes (Basel) ; 14(11)2023 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-38003041

RESUMO

Teak is a rare tropical tree with high economic value, and it is one of the world's main afforestation trees. Low temperature is the main problem for introducing and planting this species in subtropical or temperate zones. Low-temperature acclimation can enhance the resistance of teak to low-temperature stress, but the mechanism for this is still unclear. We studied the gene expression of two-year-old teak seedlings under a rapid temperature drop from 20 °C to 4 °C using RNA-seq and WGCNA analyses. The leaves in the upper part of the plants developed chlorosis 3 h after the quick transition, and the grades of chlorosis were increased after 9 h, with the addition of water stains and necrotic spots. Meanwhile, the SOD and proline contents in teak leaves increased with the prolonged cold stress time. We also identified 36,901 differentially expressed genes, among which 1055 were novel. Notably, CBF2 and CBF4 were significantly induced by low temperatures, while CBF1 and CBF3 were not. Furthermore, WGCNA successfully identified a total of fourteen modules, which consist of three modules associated with cold stress response genes, two modules linked to CBF2 and CBF4, and one module correlated with the CBF-independent pathway gene HY5. The transformation experiments showed that TgCBF2 and TgCBF4 improved cold resistance in Arabidopsis plants.


Assuntos
Anemia Hipocrômica , Proteínas de Arabidopsis , Arabidopsis , Humanos , Pré-Escolar , Temperatura , Proteínas de Arabidopsis/genética , Transcriptoma/genética , Temperatura Baixa , Arabidopsis/metabolismo , Transativadores/genética
6.
Clin Lab ; 69(10)2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37844059

RESUMO

BACKGROUND: The most common causes of microcytic hypochromic anemia are thalassemia trait (TT) and iron deficiency anemia (IDA). Clinically, the differential diagnosis of TT and IDA is crucial, but it is typically challenging. Thus, in order to differentiate between TT and IDA, we seek to develop a new discriminative index on an automatic hematology analyzer utilizing the two new RBC characteristics of low hemoglobin density (LHD) and microcytic anemia factor (MAF). METHODS: We recruited a total of 323 subjects, including 115 healthy controls, 83 TT, and 125 IDA. An automated hematology analyzer (DxH800, Beckman Coulter) was used to determine peripheral blood parameters; LHD and MAF were calculated using the parameters of MCHC, Hb, and MCV. The receiver operating characteristic (ROC) curve was used to determine the cutoff values and evaluate the diagnostic value for TT and IDA. RESULTS: LHD was significantly lower in TT than IDA, whereas MAF was higher. To distinguish between TT and IDA, a new formula based on LHD and MAF was developed, with a cutoff value of 0.5, AUC of 0.9706 (95% CI: 0.9503 - 0.9909), and specificity, sensitivity, positive predictive value, and negative predictive values were 92.91%, 91.36%, 89.16%, and 94.40%, respectively. The new formula has proven advantages over conventional indices, such as RDW-SD, MCV, MCH, etc. Conclusions: The RBC parameters LHD and MAF detected by hematology analyzer could be useful for screening for TT and IDA. Our new formula outperforms other discriminant formulas in the literature with high sensitivity and specificity, is simple, rapid, and can aid in early detection and management.


Assuntos
Anemia Hipocrômica , Anemia Ferropriva , Talassemia beta , Humanos , Anemia Ferropriva/diagnóstico , Índices de Eritrócitos , Anemia Hipocrômica/diagnóstico , Talassemia beta/diagnóstico , Diagnóstico Diferencial , Hemoglobinas
7.
Hemoglobin ; 47(4): 172-179, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37818638

RESUMO

We reported the identification of two rare α-thalassemia silent carriers with novel HBA1 mutations of CD 39 -C [Thr > Pro] (HBA1: c.114del; p.Thr39Profs*11) and CD 109 ACC > CCC [Thr > Pro] (HBA1: c.325A > C; p. Thr109Pro), respectively. The two probands were pregnant women diagnosed with mild hypochromic anemia or microcytic hypochromic anemia by routine blood tests. They started iron therapy before taking differential diagnosis from iron deficiency anemia. After wait and watch approach, they both accepted thalassemia genetic screening, which identified CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro], respectively. Due to inappropriate iron therapy, worse anemia and iron overload were noticed in the first proband, but no obvious side effect was found in both probands. Functional analysis showed that, relative to the wild type, CD 39 -C [Thr > Pro] considerably reduced the expression of the HBA1 protein while CD 109 ACC > CCC [Thr > Pro] only had a minor impact. Our study highlighted the importance of gestational thalassemia screening based on next-generation sequencing for identifying novel rare thalassemia variants and increased our understanding about the relationship between genotype and phenotype of α-thalassemia.


Assuntos
Anemia Hipocrômica , Anemia , Talassemia alfa , Feminino , Humanos , Gravidez , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Anemia Hipocrômica/diagnóstico , População do Leste Asiático , Hemoglobinas Glicadas , Ferro , Mutação , Heterozigoto
8.
J Pak Med Assoc ; 73(8): 1729-1731, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37697773

RESUMO

Idiopathic pulmonary haemosiderosis is a rare disorder, with recurrent life-threatening alveolar haemorrhages and chronic lung parenchymal changes. It is associated with a triad of haemoptysis, iron deficiency anaemia, and diffuse pulmonary infiltrates. Although most cases are idiopathic, secondary haemosiderosis linked to known diseases has also been observed. Most of the cases remain undiagnosed because the disease is very low on the list of differentials. There is no specified age for the disease. The present study reports on an adolescent female patient who presented with microcytic anaemia and bilateral lung infiltrates to the National Institute of Child Health (NICH), Karachi, a tertiary care hospital. She was diagnosed with Idiopathic pulmonary haemosiderosis after ruling out other possibilities.


Assuntos
Anemia Hipocrômica , Anemia Ferropriva , Anemia , Hemossiderose , Adolescente , Criança , Feminino , Humanos , Hemossiderose/complicações , Hemossiderose/diagnóstico , Anemia/etiologia , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/etiologia
9.
Commun Biol ; 6(1): 944, 2023 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-37714932

RESUMO

The mechanisms of acclimating to a nitrogen-fluctuating environment are necessary for the survival of aquatic cyanobacteria in their natural habitats, but our understanding is still far from complete. Here, the synthesis of phycobiliprotein is confirmed to be much earlier than that of photosystem components during recovery from nitrogen chlorosis and an unknown protein Ssr1698 is discovered to be involved in this synthetic process. The unknown protein is further identified as a c-type heme oxygenase (cHO) in tetrapyrrole biosynthetic pathway and catalyzes the opening of heme ring to form biliverdin IXα, which is required for phycobilin production and ensuing phycobiliprotein synthesis. In addition, the cHO-dependent phycobiliprotein is found to be vital for the growth of cyanobacterial cells during chlorosis and regreening through its nitrogen-storage and light-harvesting functions, respectively. Collectively, the cHO expressed preferentially during recovery from nitrogen chlorosis is identified in photosynthetic organisms and the dual function of this enzyme-dependent phycobiliprotein is proposed to be an important mechanism for acclimation of aquatic cyanobacteria to a nitrogen-fluctuating environment.


Assuntos
Anemia Hipocrômica , Cianobactérias , Humanos , Heme Oxigenase (Desciclizante) , Aclimatação , Nitrogênio , Ficobiliproteínas
11.
Hematology ; 28(1): 2250646, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37615562

RESUMO

OBJECTIVE: The 4.2 kb deletion (-α4.2/) is a common a+-thalassemia with a carrier rate, followed by the South-East Asian deletion (-SEA) and the 3.7 kb deletion (-α3.7/). There are few reports about 4.2 kb deletion sub-types. Herein, we present a patient with double heterozygous -α4.2Ⅰ/-α4.2Ⅱwho was identified using third-generation sequencing (TGS). METHODS: Hematology and hemoglobin fraction analysis were carried out by complete blood count (CBC) and capillary electrophoresis (CE). Gap-PCR was used to detect the common deletional α-thalassemia, and multiple ligation-dependent probe amplification (MLPA) was performed to screen the large deletion. Sanger sequencing identified the variant. The different deletions were confirmed by TGS. RESULTS: CBC showed the patient with microcytic hypochromic anemia, and CE indicated the presence of a Hb variant. Gap-PCR and MLPA detected 4.2 kb deletion homozygotes (-α4.2/-α4.2). The Hb variant was confirmed as Hb Q-Thailand by Sanger sequencing. The patient was identified as compound heterozygous of 4.2 kb deletion and Hb Q-Thailand (-α4.2/-α4.2-Q-Thailand, -α4.2Ⅰ/-α4.2Ⅱ) using TGS. CONCLUSIONS: Hb Q-Thailand (-α4.2-Q-Thailand/) complex 4.2 kb deletion heterozygote (-α4.2/) is easily misdiagnosed as 4.2 kb homozygous using Gap-PCR and MLPA. The TGS enables the identification of the two different 4.2 kb deletion sub-types.


Assuntos
Anemia Hipocrômica , Humanos , Anemia Hipocrômica/genética , Povo Asiático , Eletroforese Capilar , Heterozigoto , Homozigoto , Análise de Sequência de DNA
12.
FP Essent ; 530: 12-16, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37390396

RESUMO

Microcytic anemia is defined as anemia with a mean corpuscular volume (MCV) of less than 80 mcm3 in adults. Age-specific parameters should be used for patients younger than 17 years. The cause of microcytic anemia includes acquired and congenital causes, which should be considered separately according to the age of the patient, risk factors, and coexisting signs and symptoms. The most common cause of microcytic anemia is iron deficiency anemia; it can be managed with oral or intravenous iron, depending on the severity and comorbid conditions of the affected individual. Pregnant patients and patients with heart failure with iron deficiency anemia require special considerations to prevent significant morbidity and mortality. The wide spectrum of thalassemia blood disorders should be considered in patients with a particularly low MCV in the absence of systemic iron deficiency. Iron chelation may be required for some of these patients. Sickle cell anemia and sideroblastic anemia are important inherited causes of microcytic (as well as normocytic) anemia. Promising treatments are being developed for patients with transfusion-dependent thalassemia and sickle cell anemia.


Assuntos
Anemia Hipocrômica , Anemia Ferropriva , Anemia Falciforme , Adulto , Feminino , Gravidez , Humanos , Adolescente , Anemia Ferropriva/complicações , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/terapia , Fatores de Risco
13.
Pan Afr Med J ; 44: 131, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37333783

RESUMO

Introduction: anemia remains a major public health challenge worldwide, frequently having multifactorial causes and wide-ranging, largely underestimated repercussions. The purpose of this paper is to assess the prevalence of anemia and identify associated factors in a group of children, adults, and pregnant women. Methods: our sample consisted of a total of 1360 volunteers (group I: 410 school-aged children aged 5-11 years; group II: 533 adults aged 16 to 65 years; group III: 417 pregnant women aged 17 to 45 years) randomly selected from different towns of the M'diq-Fnideq prefecture, Morocco from March 2018 to September 2018. Data on socio-demographic, anthropometric, and dietary status were collected from a questionnaire survey. A complete blood count was performed using a hematology analyzer, Sysmex KX21N® (Sysmex Corporation, Kobe, Japan), in the hematology laboratory of the Mohamed VI Hospital of M'diq. Results: anemia was found in 31% of children, 52.4% of adults, and 22.5% of pregnant women. Microcytic hypochromic anemia was the most dominant type of anemia in children, adults, and pregnant women with percentages of 40.6%, 48.7%, and 43.5%, respectively. Mild anemia was much more common than moderate and severe anemia in all groups. Furthermore, anemia was associated with low socioeconomic and educational levels in adults (22.8% versus 27.9%) and pregnant women (18.1% versus 16.8%). Schoolchildren with illiterate parents and low socioeconomic levels are the most affected by anemia, with a prevalence of 75% and 69.44%, respectively. Also, children with insufficient stature are at a high risk for anemia compared to children of normal stature (p<0.001). As for weight for age, the odds ratio (OR) was 4.32. A significant difference between underweight and anemia was revealed (p<0.001). A frequency of meat product, vegetables, and fruit consumption lower than 1.5 times per week increases the risk of anemia in schoolchildren. Conclusion: these findings showed a significant prevalence of anemia in all study groups associated with socioeconomic, anthropometric, and nutritional factors. However, further studies are needed to focus on interventions and etiologies in order to limit potential complications, especially in schoolchildren and pregnant women.


Assuntos
Anemia Hipocrômica , Anemia , Adulto , Criança , Feminino , Humanos , Gravidez , Prevalência , Marrocos/epidemiologia , Anemia/epidemiologia , Gestantes , Fatores de Risco , Fatores Socioeconômicos
14.
Proc Natl Acad Sci U S A ; 120(27): e2304306120, 2023 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-37364127

RESUMO

Understanding the fundamental interaction of nanoparticles at plant interfaces is critical for reaching field-scale applications of nanotechnology-enabled plant agriculture, as the processes between nanoparticles and root interfaces such as root compartments and root exudates remain largely unclear. Here, using iron deficiency-induced plant chlorosis as an indicator phenotype, we evaluated the iron transport capacity of Fe3O4 nanoparticles coated with citrate (CA) or polyacrylic acid (PAA) in the plant rhizosphere. Both nanoparticles can be used as a regulator of plant hormones to promote root elongation, but they regulate iron deficiency in plant in distinctive ways. In acidic root exudates secreted by iron-deficient Arabidopsis thaliana, CA-coated particles released fivefold more soluble iron by binding to acidic exudates mainly through hydrogen bonds and van der Waals forces and thus, prevented iron chlorosis more effectively than PAA-coated particles. We demonstrate through roots of mutants and visualization of pH changes that acidification of root exudates primarily originates from root tips and the synergistic mode of nanoparticle uptake and transformation in different root compartments. The nanoparticles entered the roots mainly through the epidermis but were not affected by lateral roots or root hairs. Our results show that magnetic nanoparticles can be a sustainable source of iron for preventing leaf chlorosis and that nanoparticle surface coating regulates this process in distinctive ways. This information also serves as an urgently needed theoretical basis for guiding the application of nanomaterials in agriculture.


Assuntos
Anemia Hipocrômica , Arabidopsis , Deficiências de Ferro , Nanopartículas de Magnetita , Ferro/metabolismo , Transporte Biológico , Anemia Hipocrômica/metabolismo , Arabidopsis/metabolismo , Raízes de Plantas/metabolismo
15.
Clin Chim Acta ; 545: 117368, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37127232

RESUMO

BACKGROUND: Iron deficiency anemia (IDA) and thalassemia trait (TT) are the most common causes of microcytic hypochromic anemia (MHA) and are endemic in lower resource settings and rural areas with poor medical infrastructure. Accurate discrimination between IDA and TT is an essential issue for MHA patients. Although various discriminant formulas have been reported, distinguishing between IDA and TT is still a challenging problem due to the diversity of anemic populations. METHODS: We retrospectively collected laboratory data from 798 MHA patients. High proportions of α-TT (43.33 %) and TT concomitant with IDA (TT&IDA) patients (14.04 %) were found among TT patients. Five machine learning (ML) approaches, including Liner SVC (L-SVC), support vector machine learning (SVM), Extreme gradient boosting (XGB), Logistic Regression (LR), and Random Forest (RF), were applied to develop a discriminant model. Performance was assessed and compared with six existing discriminant formulas. RESULTS: The RF model was chosen as the discriminant algorithm, namely TT@MHA. TT@MHA was tested in an interlaboratory cohort with a sensitivity, specificity, accuracy, and AUC of 91.91 %, 91.00 %, 91.53 %, and 0.942, respectively. A webpage tool of TT@MHA (https://dxonline.deepwise.com/prediction/index.html?baseUrl=%2Fapi%2F&id=26408&topicName=undefined&from=share&platformType=wisdom) was developed to facilitate the healthcare providers in rural areas. CONCLUSION: The ML-based TT@MHA algorithm, with high sensitivity and specificity, could help discriminate TT patients from MHA patients, especially in populations with high proportions of α-TT patients and TT&IDA patients. Moreover, a user-friendly webpage tool for TT@MHA could facilitate healthcare providers in rural areas where advanced technologies are not accessible.


Assuntos
Anemia Hipocrômica , Anemia Ferropriva , Talassemia beta , Humanos , Estudos Retrospectivos , Diagnóstico Diferencial , Anemia Hipocrômica/diagnóstico , Anemia Hipocrômica/etiologia , Talassemia beta/diagnóstico , Anemia Ferropriva/diagnóstico , Aprendizado de Máquina , Índices de Eritrócitos
16.
Gene ; 874: 147491, 2023 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-37207827

RESUMO

Copper (Cu) and iron (Fe) share similar characteristics and participate as coenzymes in several physiological processes. Both Cu excess and Fe deficiency result in chlorosis, however, the crosstalk between the two is not clear in rice. In this study, we performed transcriptome analysis for Cu excess and Fe deficiency in rice. Some WRKY family members (such as WRKY26) and some bHLH family members (such as late flowering) were selected as novel potential transcription factors involved in the regulation of Cu detoxification and Fe utilization, respectively. These genes were induced under corresponding stress conditions. Many Fe uptake-related genes were induced by Cu excess, while Cu detoxification-related genes were not induced by Fe deficiency. Meanwhile, some genes, such as metallothionein 3a, gibberellin 3beta-dioxygenase 2 and WRKY11, were induced by Cu excess but repressed by Fe deficiency. Concisely, our results highlight the crosstalk between Cu excess and Fe deficiency in rice. Cu excess caused Fe deficiency response, while Fe deficiency did not lead to Cu toxicity response. Metallothionein 3a might be responsible for Cu toxicity-induced chlorosis in rice. The crosstalk between Cu excess and Fe deficiency might be regulated by gibberellic acid.


Assuntos
Anemia Hipocrômica , Deficiências de Ferro , Oryza , Oryza/genética , Oryza/metabolismo , Ferro/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Raízes de Plantas/genética , Raízes de Plantas/metabolismo , Regulação da Expressão Gênica de Plantas , Cobre/toxicidade
17.
Sci Total Environ ; 887: 164042, 2023 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-37187384

RESUMO

Heavy metals (HMs)-induced iron (Fe) deficiency severely inhibits plant growth and thus hampers phytoremediation and revegetation in HMs-contaminated soil. We conducted a 12-month pot experiment to investigate the effects and mechanisms of co-planting on altering plant HM-induced Fe deficiency. The landscape tree Ilex rotunda was co-planted with Ficus microcarpa and Talipariti tiliaceum in sludge-amended soil. The responses of I. rotunda growth, elements uptake, and rhizosphere microbial community and metabolites were analyzed. The addition of sludge increased cadmium (Cd), zinc (Zn), and nickel (Ni) uptake and induced Fe deficiency-induced chlorosis in I. rotunda. This chlorosis was exacerbated when I. rotunda was co-planted with F. macrocarpa due to the increase in the abundance of sulfate reduction or Fe immobilization-associated bacteria and the relative level of isoprenyl alcohol and atropine in I. rotunda rhizosphere but the decrease in the contents of soil diethylenetriaminepentaacetic acid Fe (DTPA-Fe) (-16.19 %). Co-planting with T. tiliaceum or F. macrocarpa and T. tiliaceum decreased the contents of total or DTPA Zn/Cd/Ni in the soil while increased the contents of soil DTPA-Fe by 13.24 % or 11.34 % and the abundance of microbes which contributed to immobilizing HMs or activating Fe reduction, and then alleviated the chlorosis and the growth inhibition of I. rotunda. These results provide a new perspective on the phytoremediation and revegetation of HMs-contaminated soil.


Assuntos
Anemia Hipocrômica , Deficiências de Ferro , Metais Pesados , Poluentes do Solo , Cádmio/análise , Solo , Esgotos , Metais Pesados/análise , Níquel/análise , Zinco/análise , Plantas/metabolismo , Biodegradação Ambiental , Poluentes do Solo/análise
18.
Sci Total Environ ; 889: 164269, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37211127

RESUMO

Acid mine drainage (AMD) is known as an important source of environmental pollution with potentially toxic elements. High concentrations of minerals in soil were observed in a pomegranate garden nearby a copper mine, Chaharmahal and Bakhtiari, Iran. In the vicinity of this mine, AMD locally caused distinct chlorosis in pomegranate trees. As expected, potentially toxic concentrations of Cu, Fe, and Zn were accumulated in the leaves of the chlorotic pomegranate trees (YLP), i.e., increased by 69 %, 67 % and 56 %, respectively, compared to the non-chlorotic trees (GLP). Remarkably, also some other elements, including Al (82 %), Na (39 %), Si (87 %), and Sr (69 %) were considerably enhanced in YLP, compared to GLP. On the other hand, the foliar Mn concentration in YLP was strongly decreased, about 62 % lower than that in GLP. The most plausible reasons for chlorosis in YLP are either toxicity of Al, Cu, Fe, Na, and Zn, or a deficiency of Mn. In addition, AMD led to oxidative stress, shown by a high accumulation of H2O2 in YLP, and a strong upregulation of enzymatic and non-enzymatic antioxidants. AMD apparently caused chlorosis, reduced the size of individual leaves, and caused lipid peroxidation. A further analysis of the adverse effect of the responsible AMD component(s) could be helpful to reduce the risk of food chain contamination.


Assuntos
Anemia Hipocrômica , Metais Pesados , Punica granatum , Cobre/toxicidade , Árvores , Peróxido de Hidrogênio , Metais Pesados/análise
19.
Hum Genomics ; 17(1): 38, 2023 04 25.
Artigo em Inglês | MEDLINE | ID: mdl-37098594

RESUMO

BACKGROUND: At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long-read single-molecule sequencing with high detection accuracy, and long-length DNA chain reads in high-fidelity read mode. This study aimed to identify novel large deletions and complex variants in the α-globin locus in Chinese population. METHODS: We used SMRT sequencing to detect rare and complex variants in the α-globin locus in four individuals whose hematological data indicated microcytic hypochromic anemia. However, the conventional thalassemia detection result was negative. Multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction were used to confirm SMRT sequencing results. RESULTS: Four novel large deletions were observed ranging from 23 to 81 kb in the α-globin locus. One patient also had a duplication of upstream of HBZ in the deletional region, while another, with a 27.31-kb deletion on chromosome 16 (hg 38), had abnormal hemoglobin Siriraj (Hb Siriraj). CONCLUSION: We first identified the four novel deletions in the α-globin locus using SMRT sequencing. Considering that the conventional methods might lead to misdiagnosis or missed diagnosis, SMRT sequencing proved to be an excellent method to discover rare and complex variants in thalassemia, especially in prenatal diagnosis.


Assuntos
População do Leste Asiático , alfa-Globinas , Humanos , alfa-Globinas/genética , Talassemia alfa/genética , Anemia Hipocrômica/genética , População do Leste Asiático/genética , Mutação
20.
Expert Rev Hematol ; 16(5): 349-364, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37092971

RESUMO

INTRODUCTION: Microcytic anemias (MA) have frequent or rare etiologies. New discoveries in understanding and treatment of microcytic anemias need to be reviewed. AREAS COVERED: Microcytic anemias with a focus on the most frequent causes and on monogenic diseases that are relevant for understanding biocellular mechanisms of MA. All treatments except gene therapy, with a focus on recent advances. PubMed search with references selected by expert opinion. EXPERT OPINION: As the genetic and cellular backgrounds of dyserythropoiesis will continue to be clarified, collaboration with bioengineering of treatments acting specifically at the protein domain level will continue to provide new therapies in hematology as well as oncology and neurology.


Assuntos
Anemia Hipocrômica , Humanos , Anemia Hipocrômica/genética , Anemia Hipocrômica/metabolismo , Prova Pericial , Terapia Genética
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