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1.
Biochem Biophys Res Commun ; 703: 149659, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38382358

RESUMO

Utilizing RNA sequence (RNA-Seq) splice junction data from a cohort of 1841 B-cell acute lymphoblastic leukemia (B-ALL) patients we define transcriptionally distinct isoforms of ARID5B, a risk-associated gene identified in genome wide association studies (GWAS), which associate with disease survival. Short (S) and long (L) ARID5B transcripts, which differ in an encoded BAH-like chromatin interaction domain, show remarkable correlation to the isoform splicing pattern. Testing of the ARID5B proximal promoter of the S & L isoforms indicated that both are functionally independent in luciferase reporter assays. Increased short isoform expression is associated with decreased event-free and overall survival. The abundance of short and long transcripts strongly correlates to B-ALL prognostic stratification, where B-ALL subtypes with poor outcomes express a higher proportion of the S-isoform. These data demonstrate that the analysis of independent promoters and alternative splicing events are essential for improved risk stratification and a more complete understanding of disease pathology.


Assuntos
Processamento Alternativo , Estudo de Associação Genômica Ampla , Humanos , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Splicing de RNA , Sequência de Bases , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
2.
J Clin Tuberc Other Mycobact Dis ; 34: 100414, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38304751

RESUMO

Background: Central Nervous System Tuberculosis (CNS-TB) is a serious public health concern causing significant morbidity and mortality, especially in high TB burden countries. Despite the expanding research landscape of CNS-TB, there is no comprehensive map of this field. This work aims to (1) obtain a current and comprehensive overview of the CNS-TB research landscape, (2) investigate the intellectual and social structure of CNS-TB publications, and (3) detect geographical discrepancies in scientific production, highlighting regions requiring increased research focus. Methods: We conducted a bibliometric analysis on CNS-TB literature indexed in Web of Science from 2000 to 2022, evaluating 2130 articles. The dataset was analyzed in R for descriptive statistics. We used R-bibliometrix and VOSViewer for data visualization. Findings: Publication output grew annually at an average rate of 6·88%, driven primarily by India and China. International collaborations comprised 16·44% of total publications but contributed to 11 of the 15 top-cited papers. Additionally, we identified discrepancies of CNS-TB research in many low- and middleincome countries relative to their TB incidence. Interpretation: Our findings reveal a growing interest in CNS-TB research from China and India, countries with rapidly developing economies, high TB burdens, and a recent increase in research funding. Furthermore, we found that international collaborations are correlated with high impact and accessibility of CNS-TB research. Finally, we identified disparities in CNS-TB research in specific countries, particularly in many low- and middle-income countries, emphasizing the need for increased research focus in these regions.

3.
World Neurosurg ; 184: e65-e71, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38218447

RESUMO

OBJECTIVE: Understanding ergonomic impact is foundational to critically evaluating value and safety of enabling technologies in minimally invasive spine surgeries. This study assessed the impact of a tubular-mounted digital camera (TMDC) versus an optical surgical microscope (OSM) in single-level minimally invasive spine surgeries on operative times, durotomy rate, surgeon ergonomics, safety, and operating room workflow. METHODS: This retrospective study compared consecutive single-level minimally invasive lumbar decompression surgeries in a TMDC cohort (September 2021-June 2022) with an historical OSM cohort (January 2020-July 2021). Data included patient demographics, operative times, durotomy incidence, surgeon ergonomics (Rapid Entire Body Assessment scores), and equipment impact via staff surveys. Operative times were assessed by t test, while Pearson χ2 test compared sex. Age, body mass index, and Charlson Comorbidity Index comparisons were made by Wilcoxon rank sum tests, and survey results were analyzed with Wilcoxon signed rank tests. RESULTS: TMDC and OSM groups included 74 and 82 patients, respectively. Age, sex, and Charlson Comorbidity Index did not significantly differ between groups. The TMDC group had a higher body mass index (29.6 ± 5.1) than the OSM group (29.0 ± 7.5) (P = 0.04). The TMDC group had significantly shorter operative times (57.3 ± 16.6 minutes) than the OSM group) (66.7 ± 22.5 minutes) (P = 0.004), with no difference in durotomy rates (P = 0.42). TMDC use yielded lower Rapid Entire Body Assessment scores compared with OSM (4.1 ± 0.77) (P < 0.001). Surveys indicated improved safety, setup time, and workflow with TMDC (P < 0.001). CONCLUSIONS: TMDC in single-level minimally invasive lumbar decompression surgery improved surgeon ergonomics, reduced operative times, and maintained durotomy rates, enhancing operating room efficiency. Evaluating ergonomic impact of technology is vital for safety and value assessment.


Assuntos
Vértebras Lombares , Fusão Vertebral , Humanos , Estudos Retrospectivos , Vértebras Lombares/cirurgia , Duração da Cirurgia , Fluxo de Trabalho , Fusão Vertebral/métodos , Descompressão Cirúrgica , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Resultado do Tratamento
4.
Ann Med Surg (Lond) ; 82: 104479, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36268319

RESUMO

Background: Pleural effusions are most commonly classified as transudative or exudative based on Light's criteria which has shown misclassification in 10%-20% of cases. Studies have demonstrated lesser misclassification with pleural fluid cholesterol criteria. Thus, this study aimed to find the diagnostic properties of pleural fluid cholesterol in differentiating the type of effusion. Materials and methods: This cross-sectional study involving 72 patients was undertaken in a tertiary center in Nepal for a duration of 2 years. On the basis of Light's, Heffner's, etiological, and pleural fluid cholesterol criteria, pleural effusion was classified as exudative or transudative. The findings were then evaluated to determine the diagnostic value of each approach in identifying the effusion type and comparing them on the basis of sensitivity, specificity, positive predictive value and negative predictive value. Result: Pleural fluid cholesterol detected effusion as exudative with sensitivity of 91.94% and specificity of 80.00% against Light's criteria; with a sensitivity of 98.28% and specificity of 85.71% against the etiological diagnosis. Additionally, against the etiological diagnosis, sensitivity of both Light's and Heffner's criteria was 100%; however, specificity was 71.43% and 64.29% respectively, which is far less than that of pleural fluid cholesterol (85.71%). Furthermore, pleural fluid cholesterol was also found to have better results than protein ratio, LDH ratio and pleural fluid protein ratio in determining the type of effusion. Conclusion: When considering the avoidance of confusing outcomes in equivocal instances and cost effectiveness in developing nations, pleural fluid cholesterol can be one of the most useful alternative diagnostic methods for differentiating between exudative or transudative effusions.

5.
J Nepal Health Res Counc ; 17(4): 479-484, 2020 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-32001852

RESUMO

BACKGROUND: Gastritis is one of the common diseases, which is frequently caused by Helicobacter pylori. Triple therapy has resulted significant decrease in morbidity and complications. Newer proton pump inhibitor drug rabeprazole has been introduced in the market. The aim of this study is to compare its efficacy with omeprazole in triple therapy regimen. METHODS: A total of 100 patients who were positive for Helicobacter pylori and gave consent in participating in the study were included. Fifty patients were prescribed omeprazole-based triple therapy and other 50 were prescribed with rabeprazole-based triple therapy. After 2 weeks of triple therapy and 4 weeks of proton pump inhibitor treatment, Helicobacter pylori antigen was tested in faecal material. RESULTS: Out of 100 patients, there was significant correlation between epigastric pain, nausea and water brash with p value, 0.001. Similarly P-value was < 0.001 among hiatus hernia and reflux whereas p value was < 0.05 between bile reflux, hiatus hernia and reflux. In follow up study, after triple therapy, Helicobacter pylori antigen tests were negative in 94% of the study population, who were prescribed rabeprazole which was similar who were prescribed omeprazole (92%). CONCLUSIONS: Rabeprazole (20 mg) has proved similar Helicobacter pylori eradication rates compared with omeprazole (40 mg) when co-administered with of antibiotics (amoxicillin and clarithromycin) for two weeks.


Assuntos
Refluxo Gastroesofágico/tratamento farmacológico , Refluxo Gastroesofágico/epidemiologia , Infecções por Helicobacter/tratamento farmacológico , Infecções por Helicobacter/epidemiologia , Inibidores da Bomba de Prótons/uso terapêutico , Adolescente , Adulto , Idoso , Antibacterianos/uso terapêutico , Criança , Estudos Transversais , Quimioterapia Combinada , Fezes/citologia , Feminino , Refluxo Gastroesofágico/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Nepal/epidemiologia , Omeprazol/uso terapêutico , Inibidores da Bomba de Prótons/administração & dosagem , Inibidores da Bomba de Prótons/efeitos adversos , Rabeprazol/uso terapêutico , Adulto Jovem
6.
J Med Case Rep ; 13(1): 276, 2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-31472695

RESUMO

BACKGROUND: Leprosy is a disease that was declared eliminated in 2010 from Nepal; however, new cases are diagnosed every year. The difficulty arises when the presentation of the patient is unusual. CASE PRESENTATION: In this case report we present a case of a 22-year-old Tamang man, from the Terai region of Nepal, with a clinical presentation of fever, malaise, and arthralgia for the past 2 weeks with hepatosplenomegaly and bilateral cervical, axillary, and inguinal lymphadenopathy. Features of chronic inflammation with elevated erythrocyte sedimentation rate of 90 mm/hour and liver enzymes were noted. With no specific investigative findings, a diagnosis of Still's disease was made and he was given prednisolone. On tapering the medication, after 2 weeks, the lymphadenopathy and fever reappeared. On biopsy of a lymph node, diagnosis of possible tuberculosis was made. On that basis anti-tuberculosis treatment category I was started. During his hospital stay, our patient developed nodular skin rashes on his shoulder, back, and face. The biopsy of a skin lesion showed erythema nodosum leprosum and he was diagnosed as having lepromatous leprosy with erythema nodosum leprosum; he was treated with anti-leprosy medication. CONCLUSION: An unusual presentations of leprosy may delay its prompt diagnosis and treatment; thus, increasing morbidity and mortality. Although leprosy has been declared eliminated, it should not be forgotten and physicians should have it in mind to make it a differential diagnosis whenever relevant.


Assuntos
Eritema Nodoso/diagnóstico , Hanseníase Virchowiana/diagnóstico , Diagnóstico Tardio , Erros de Diagnóstico , Humanos , Masculino , Nepal , Doença de Still de Início Tardio/diagnóstico , Tuberculose dos Linfonodos/diagnóstico , Adulto Jovem
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