scholarly journals Large-scale screening of thalassemia in Ji’an, P.R. China

2020 ◽  
Author(s):  
Yu Qiu ◽  
Liangwei Mao ◽  
Shiping Chen ◽  
Hao Li ◽  
Hairong Wang ◽  
...  
Keyword(s):  
Geographical Distribution ◽  
Large Scale ◽  
Limited Resource ◽  
Epidemiological Data ◽  
Amplicon Sequencing ◽  
Beta Thalassemia ◽  
Jiangxi Province ◽  
Carrier Rate ◽  
Alpha Thalassemia ◽  
Epidemiology Data

Abstract Background: To evaluate the prevalence of alpha- and beta-thalassemia in Ji'an City, Jiangxi Province, 28,941 people in the region were genetically screened to identify various thalassemia genotypes. Methods: High-throughput amplicon sequencing and gap-PCR was used to screen 301 thalassemia alleles in 28,941 people in the region. Pregnant women were the focus of this screening, and if a pregnant woman harbored mutations in a thalassemia-inducing gene, her spouse was also genetically tested. Results: Of the participants, 2,380 people were carriers of thalassemia, with at least one thalassemia allele, including 1,742 alpha-thalassemia carriers, 686 beta-thalassemia carriers and 48 composite alpha- and beta-thalassemia carriers. The total carrying rate of thalassemia in Ji'an was 8.22%, and the carrying rates of alpha- and beta-thalassemia were 6% and 2.37%, respectively. In addition, the first measured carrier rate of composite alpha- and beta-thalassemia in Ji'an was 0.17%. According to the geographical distribution of the 1,742 alpha -thalassemia carriers, the city with the highest carrier rate was Suichuan, followed by Wan’an and Taihe. According to the geographical distribution of the 686 beta-thalassemia carriers, the top three cities with high carrier rates were Suichuan, Wan'an and Xiajiang, sequentially. Conclusions: This research emphasizes the importance of large-scale population screening and that comprehensive molecular epidemiology data are necessary for the proper prevention and treatment of thalassemia. The epidemiological data updated in this research may enable the local government to focus on the severity of this disease and determine a method for effective resource allocation under limited resource conditions.

scholarly journals Meta-Apo improves accuracy of 16S-amplicon-based prediction of microbiome function

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Gongchao Jing ◽  
Yufeng Zhang ◽  
Wenzhi Cui ◽  
Lu Liu ◽  
Jian Xu ◽  
...  
Keyword(s):  
16S Rrna ◽  
Large Scale ◽  
Low Cost ◽  
Human Microbiome ◽  
Amplicon Sequencing ◽  
Training Sample ◽  
Rrna Gene ◽  
16S Amplicon Sequencing ◽  
Cross Platform ◽  
Functional Profiles

Abstract Background Due to their much lower costs in experiment and computation than metagenomic whole-genome sequencing (WGS), 16S rRNA gene amplicons have been widely used for predicting the functional profiles of microbiome, via software tools such as PICRUSt 2. However, due to the potential PCR bias and gene profile variation among phylogenetically related genomes, functional profiles predicted from 16S amplicons may deviate from WGS-derived ones, resulting in misleading results. Results Here we present Meta-Apo, which greatly reduces or even eliminates such deviation, thus deduces much more consistent diversity patterns between the two approaches. Tests of Meta-Apo on > 5000 16S-rRNA amplicon human microbiome samples from 4 body sites showed the deviation between the two strategies is significantly reduced by using only 15 WGS-amplicon training sample pairs. Moreover, Meta-Apo enables cross-platform functional comparison between WGS and amplicon samples, thus greatly improve 16S-based microbiome diagnosis, e.g. accuracy of gingivitis diagnosis via 16S-derived functional profiles was elevated from 65 to 95% by WGS-based classification. Therefore, with the low cost of 16S-amplicon sequencing, Meta-Apo can produce a reliable, high-resolution view of microbiome function equivalent to that offered by shotgun WGS. Conclusions This suggests that large-scale, function-oriented microbiome sequencing projects can probably benefit from the lower cost of 16S-amplicon strategy, without sacrificing the precision in functional reconstruction that otherwise requires WGS. An optimized C++ implementation of Meta-Apo is available on GitHub (https://github.com/qibebt-bioinfo/meta-apo) under a GNU GPL license. It takes the functional profiles of a few paired WGS:16S-amplicon samples as training, and outputs the calibrated functional profiles for the much larger number of 16S-amplicon samples.

scholarly journals Challenges and Results of Laparoscopic Splenectomy for Hematological Diseases in a Developing Country

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Vikal Chandra Shakya ◽  
Bikram Byanjankar ◽  
Rabin Pandit ◽  
Anang Pangeni ◽  
Anir Ram Moh Shrestha ◽  
...  
Keyword(s):  
Laparoscopic Splenectomy ◽  
Operative Time ◽  
Hereditary Spherocytosis ◽  
Developed Countries ◽  
Beta Thalassemia ◽  
Hematological Diseases ◽  
Alpha Thalassemia ◽  
Steroid Dependent ◽  
The Mean ◽  
Surgery Department

Introduction. Though, in developed countries, laparoscopy is now a gold standard for splenectomy, we are lacking in this aspect in the eastern world. Splenectomy has mostly been performed by open surgery in our region. This is our effort to introduce laparoscopic splenectomy in our country.Methods. This is a retrospective cohort study done in patients presenting to hematology and surgery department of our hospital who underwent laparoscopic splenectomy for hematological diseases from January 2013 to December 2016.Results. There were 50 patients (38 females, 12 males). The diagnoses were idiopathic thrombocytopenic purpura in 31, (steroid/azathioprine-resistant, steroid dependent), hereditary spherocytosis in 9, alpha-thalassemia in 3, beta-thalassemia in 2, autoimmune hemolytic anemia in 4, and isolated splenic tuberculosis in 1. Average platelet counts preoperatively were62000±11000/mm3 (range 52000-325000/mm3). The mean operative time was130±49minutes (range 108-224 min). The mean postoperative stay was4±2.11days (range 3-9 days). Laparoscopic splenectomy could be completed in 45 (90%) patients.Conclusion. Laparoscopic splenectomy could be successfully contemplated in patients with hematological diseases, especially if spleen is normal or only mildly enlarged, and is an advantageous alternative to open splenectomy. Absence of ideal resources has not limited our progress in minimal access approach.

scholarly journals Epidemiology Data of Patients with Chronic Lymphocytic Leukemia in West Central Mexico

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5269-5269
Author(s):  
Virgina Campos-Cabrera ◽  
Gregorio Campos-Cabrera ◽  
Salvador Campos-Cabrera ◽  
Alicia Rivera-Trujillo ◽  
Sonia Hernandez-Rodriguez ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Conflicts Of Interest ◽  
Low Frequency ◽  
Epidemiological Data ◽  
Lymphocytic Leukemia ◽  
Female Ratio ◽  
Specific Protocol ◽  
Male Female Ratio ◽  
Epidemiology Data ◽  
International Data

Abstract Background: chronic lymphocytic leukemia (CLL) is a rare disease in Mexican mestizos (Br J Haematol 2015;169:909-911 and Int J Hematol 1999;69:253-255). No significant data on epidemiology is available. Methods: epidemiological data from samples referred to Laboratorios Fatima de Michoacan for flow cytometry immunophenotyping for neoplastic hematological disease. Results: 229 samples were received, 52 were diagnosed as CLL (22.7 %). Male 32 and female 20, ratio 1.6 a 1. Age from 33 to 89 years, average 66; 31 to 40 one, 41 to 50 two, 51 to 60 eleven, 61 to 70 twenty four, 71 to 80 ten, more than 81 four. Expression of CD 38 and ZAP-70 in three; only CD38 in 2, only ZAP-70 in three. Conclusions: similar results in male female ratio and age of presentation are noted as compared with international data. Low frequency of expression in CD38 and ZAP-70 may be due pre-analytic phase in the management of the sample. As a regional group we are trying to have epidemiology data in non-malignant and malignant hematological diseases to form specific protocol treatments. Figure 1. Figure 1. Disclosures No relevant conflicts of interest to declare.

scholarly journals The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases

Blood ◽  
1987 ◽  
Vol 70 (6) ◽  
pp. 1797-1803
Author(s):  
FS Collins ◽  
JL Cole ◽  
WK Lockwood ◽  
MC Iannuzzi
Keyword(s):  
Large Scale ◽  
Fetal Hemoglobin ◽  
Pulsed Field Gel Electrophoresis ◽  
Beta Thalassemia ◽  
Common Mechanism ◽  
Beta Globin ◽  
Gamma Delta ◽  
Large Deletions ◽  
Hereditary Persistence ◽  
American Blacks

The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme SfiI, which cuts only rarely in genomic DNA, we have constructed a large-scale restriction map of the beta-globin cluster in normal and HPFH DNA. The deletions in HPFH-1, which occurs in American blacks, and in HPFH-2, which occurs in Ghanaian blacks, are found to be approximately 105 kilobases (kb) in length, though the endpoints are staggered by approximately 5 kb. The fact that two previously reported gamma delta beta-thalassemia deletions to the 5′ side of the beta-globin cluster are also about 100 kb suggests a common mechanism, possibly involving the loss of a complete chromatin loop.

scholarly journals Searching for the bottom of the ego well: Failure to uncover ego depletion in Many Labs 3

2017 ◽  
Author(s):  
Miguel A. Vadillo ◽  
Natalie Gold ◽  
Magda Osman
Keyword(s):  
Stroop Task ◽  
Secondary Task ◽  
Large Scale ◽  
Limited Resource ◽  
Ego Depletion ◽  
Self Control ◽  
Significant Evidence ◽  
Heated Debate ◽  
The Subject ◽  
Optimal Measure

According to a popular model of self-control, willpower depends on a limited resource that can be depleted when we perform a task demanding self-control. Over the last five years, the reliability of the empirical evidence supporting this model has become the subject of heated debate. In the present study, we reanalysed data from a large-scale study –Many Labs 3– to test whether performing a depleting task has any effect on a secondary task that also relies on self-control. Although we used a large sample of more than 2,000 participants for our analyses, we did not find any significant evidence of ego-depletion: Persistence on an anagram solving task (a typical measure of self-control) was not affected by previous completion of a Stroop task (a typical depleting task in this literature). Our results suggest that persistence in anagram solving may not be an optimal measure to test depletion effects.

Evaluation of Clinical Prognostic Factors and Further Delineation of the Effect of Mesenteric Fibrosis on Survival in Advanced Midgut Neuroendocrine Tumours

2018 ◽  
Vol 107 (3) ◽  
pp. 292-304 ◽  
Author(s):  
Faidon-Marios Laskaratos ◽  
Martin Walker ◽  
Dominic Wilkins ◽  
Alexander Tuck ◽  
Shashank Ramakrishnan ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Large Scale ◽  
Neuroendocrine Tumours ◽  
Primary Tumour ◽  
Stage Iv ◽  
Epidemiological Data ◽  
Tumour Resection ◽  
Carcinoid Heart Disease ◽  
Factors Affecting ◽  
Stage Iv Disease

Background: Small intestinal neuroendocrine tumours (SI NETs) represent 30–50% of small bowel neoplasms and often present at an advanced stage. To date, there is relatively limited literature regarding prognostic factors affecting overall survival (OS) in stage IV disease. In addition, the prevalence of mesenteric fibrosis (MF) in SI NETs and its effect on OS have not been sufficiently explored in the literature. Aim: The primary aim of this study was to perform a large-scale survival analysis in an institutional cohort of 387 patients with metastatic (stage IV) SI NETs. The secondary aim was to provide epidemiological information regarding the prevalence of MF and to evaluate its effect on OS. Results: The median OS was 101 months (95% CI 84, 118). Age > 65 years, mesenteric metastases with and without desmoplasia, liver metastases, carcinoid heart disease (CHD) and bone metastases were associated with a significantly shorter OS, while primary tumour resection was predictive of a longer OS. The benefit of surgical resection was limited to symptomatic patients. MF was present in approximately 50% of patients with mesenteric lymphadenopathy. Elevated urinary 5-HIAA levels correlated strongly with the presence of CHD (p < 0.001) and to a lesser extent (p = 0.02) with MF. MF and CHD did not usually co-exist, suggesting that different mechanisms are likely to be involved in the development of these fibrotic complications. Conclusions: This study has identified specific prognostic factors in a large cohort of 387 patients with advanced SI NETs and has provided useful epidemiological data regarding carcinoid-related fibrotic complications.

Geographical distribution of land types and primary field research work in Jalilabad Cadastral District

2020 ◽  
Vol 04 (05) ◽  
pp. 44-48
Author(s):  
Narmin Zakir Najafova ◽  
Keyword(s):  
Geographical Distribution ◽  
Large Scale ◽  
Research Work ◽  
Field Research ◽  
Soil Formation ◽  
Large Area ◽  
Large Scale Land ◽  
Physical And Chemical ◽  
Land Types ◽  
Zonal Soils

Factors influencing the formation of land cover of Jalilabad cadastral region are one of the reasons for the diversity of soil formation processes in the area. Intra-zonal soils are subject to the laws of vertical zoning due to changes in the height of the area due to its geographical distribution. Despite the fact that the Jalilabad cadastral region does not have a very large area, its separate parts are characterized by differences in bioclimatic and biogeochemical characteristics. The article shows the analysis and geographical coordinates of the main soil types formed in the Jalilabad cadastral region on the basis of a large-scale land map, depending on the soil-ecological conditions. In order to carry out comparative and ecological assessment of soils, we have made land plots in the study area. Currently, the cut samples are in the laboratory stage for physical and chemical analysis in accordance with the methodology. Key words: soil type, mechanical composition, soil structure, soil profile, GPS

Geographical distribution of land types and primary field research work in Jalilabad Cadastral District

2021 ◽  
Vol 03 (01) ◽  
pp. 88-93
Author(s):  
Nərmin Zakir qızı Nəcəfova Zakir qızı Nəcəfova ◽  
Keyword(s):  
Geographical Distribution ◽  
Large Scale ◽  
Research Work ◽  
Field Research ◽  
Soil Formation ◽  
Large Area ◽  
Large Scale Land ◽  
Physical And Chemical ◽  
Land Types ◽  
Zonal Soils

Factors influencing the formation of land cover of Jalilabad cadastral region are one of the reasons for the diversity of soil formation processes in the area. Intra-zonal soils are subject to the laws of vertical zoning due to changes in the height of the area due to its geographical distribution. Despite the fact that the Jalilabad cadastral region does not have a very large area, its separate parts are characterized by differences in bioclimatic and biogeochemical characteristics. The article shows the analysis and geographical coordinates of the main soil types formed in the Jalilabad cadastral region on the basis of a large-scale land map, depending on the soil-ecological conditions. In order to carry out comparative and ecological assessment of soils, we have made land plots in the study area. Currently, the cut samples are in the laboratory stage for physical and chemical analysis in accordance with the methodology. Key words: soil type, mechanical composition, soil structure, soil profile, GPS

Conclusion

2017 ◽  
Keyword(s):  
National Identity ◽  
Geographical Distribution ◽  
Crucial Role ◽  
Large Scale ◽  
Small Scale ◽  
Modern History ◽  
Late Modernity ◽  
History Of ◽  
Definition Of

This chapter extends the book’s insights about nature, technology, and nation to the larger history of the modern period. While the modern nation loses its grip as a locus of identity and analysis, attempts to understand the operation, disruption, and collapse of continental and global infrastructures continue to mix the natural and the machinic in ways that define them both. Those vulnerabilities emphasize large-scale catastrophe; historiographically, they mask the crucial role of small-scale failures in the experience and culture of late modernity, including its definition of nature. Historical actors turned the uneven geographical distribution of small-scale failures into a marker of distinctive local natures and an element of regional and national identity. Attending to those failures helps not only situate cold-war technologies in the larger modern history of natural and machinic orders; it helps provincialize the superpowers by casting problematic “other” natures as central and primary.

scholarly journals The effect of alpha-thalassemia on the expression of the beta- thalassemia/HPFH heterozygote in a black family

Blood ◽  
1981 ◽  
Vol 57 (6) ◽  
pp. 1132-1134 ◽  
Author(s):  
E Beutler ◽  
E Turner ◽  
W Kuhl
Keyword(s):  
Black Family ◽  
Clinical Manifestations ◽  
Fetal Hemoglobin ◽  
Pedigree Analysis ◽  
Red Cells ◽  
Beta Thalassemia ◽  
Hemoglobin Gene ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Hereditary Persistence

Abstract A 2-yr-old black girl presented with a thalassemic clinical picture and was found to have nearly 100% fetal hemoglobin in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal hemoglobin gene and for a beta O- thalassemia gene. A brother, who also had nearly 100% fetal hemoglobin in his red cells, manifested, in contrast to his sister, no anemia and only minimal splenomegaly. Examination of the family's alpha-globin loci using the restriction endonuclease Eco Rl demonstrated that the brother had a single alpha-locus deletion that he had inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess alpha chains may contribute significantly to the hematologic manifestation of beta-thalassemia.

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