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ABSTRACT The objective of this study was to evaluate the effect of intronic single nucleotide polymorphisms (SNP) on temperament traits in a Brahman cattle population. The SNP located in CACNG4, EXOC4, NRXN3, and SLC9A4 candidate genes were genotyped in 250 animals with temperament records of exit velocity, pen score, and temperament score. Rs3423464051:G>A in the CACNG4 gene was associated with exit velocity and temperament score. An in silico analysis of the five intronic SNP showed that alternative alleles of CACNG4-rs3423464051, EXOC4-rs109393235, and SLC9A4-rs109722627 SNP could alter branch point sites during splicing, while a protein–protein interaction network analysis demonstrated a GRIA2 gene-mediated interaction between CACNG4 and NRXN3. The present results support previously reported evidence regarding bovine temperament-related candidate genes, particularly CACNG4, which is a confirmed candidate gene in need of more detailed analyses to reveal its role in temperament-related traits. (SNP population CACNG EXOC4 EXOC NRXN3 NRXN SLCA SLC A SLC9A 25 score Rs3423464051G>A Rs3423464051GA RsGA Rs3423464051 G>A G Rs CACNG4rs3423464051, CACNG4rs3423464051 CACNGrs rs3423464051, rs3423464051 rs CACNG4-rs3423464051 EXOC4rs109393235, EXOC4rs109393235 EXOCrs rs109393235, rs109393235 EXOC4-rs109393235 SLC9A4rs109722627 SLCArs rs109722627 SLC9A4-rs10972262 splicing proteinprotein protein GRIA genemediated mediated temperamentrelated related 2 Rs3423464051G GA Rs342346405 CACNG4rs342346405 rs342346405 CACNG4-rs342346405 EXOC4rs10939323 rs10939323 EXOC4-rs10939323 SLC9A4rs10972262 rs10972262 SLC9A4-rs1097226 RsG Rs34234640 CACNG4rs34234640 rs34234640 CACNG4-rs34234640 EXOC4rs1093932 rs1093932 EXOC4-rs1093932 SLC9A4rs1097226 rs1097226 SLC9A4-rs109722 Rs3423464 CACNG4rs3423464 rs3423464 CACNG4-rs3423464 EXOC4rs109393 rs109393 EXOC4-rs109393 SLC9A4rs109722 rs109722 SLC9A4-rs10972 Rs342346 CACNG4rs342346 rs342346 CACNG4-rs342346 EXOC4rs10939 rs10939 EXOC4-rs10939 SLC9A4rs10972 rs10972 SLC9A4-rs1097 Rs34234 CACNG4rs34234 rs34234 CACNG4-rs34234 EXOC4rs1093 rs1093 EXOC4-rs1093 SLC9A4rs1097 rs1097 SLC9A4-rs109 Rs3423 CACNG4rs3423 rs3423 CACNG4-rs3423 EXOC4rs109 rs109 EXOC4-rs109 SLC9A4rs109 SLC9A4-rs10 Rs342 CACNG4rs342 rs342 CACNG4-rs342 EXOC4rs10 rs10 EXOC4-rs10 SLC9A4rs10 SLC9A4-rs1 Rs34 CACNG4rs34 rs34 CACNG4-rs34 EXOC4rs1 rs1 EXOC4-rs1 SLC9A4rs1 SLC9A4-rs Rs3 CACNG4rs3 rs3 CACNG4-rs3 EXOC4rs EXOC4-rs SLC9A4rs CACNG4rs CACNG4-rs

ABSTRACT Introduction: We have previously shown that some patients present thrombocytopenia (less than 100 × 109/L platelets) in non-alcoholic fatty liver disease (NAFLD). To further explore the nature of this association, we have now analyzed the association of thrombocytopenia with neutropenia (less than 0.5 × 109/L granulocytes) in NAFLD. Material and methods: Persons with NAFLD were prospectively accrued in the study after February 2018. The presence of NAFLD was defined by both serologic determinations (Fibromax ®) and liver transient elastography (TE/Fibroscan ®). Results: In 123 consecutive patients with NAFLD without cirrhosis, thrombocytopenia was identified in 20 (16%), whereas neutropenia was identified in 9 (7%). In the subset of 20 patients with NAFLD and thrombocytopenia, granulocytopenia was identified in 5 (25%), whereas in the subset of 9 patients with granulocytopenia, thrombocytopenia was identified in 5 (55%). We found a significant association between thrombocytopenia and both leukopenia and granulocytopenia (OR 8.25, 95% CI 1.9–34.2, p = 0.004). Conclusions: Both thrombocytopenia and neutropenia were identified in persons with NAFLD and, as there is a significant relationship between these two variables, we speculate that this finding may support the possibility of hypersplenism being involved in the cytopenias found in NAFLD without cirrhosis.

ABSTRACT Background: The biology of some hematological diseases varies among different populations. No previous studies have evaluated the clinical behavior of mantle cell lymphoma (MCL) in México. Objective and Methods: This is a retrospective review of MCL cases seen in Mexico from January 2003 to June 2020. A total of 12 cases were identified. Results: There were nine males and three females; median age was 56 years. Eight patients had a high MCL international prognostic index score, one was intermediate, and three were low. Five patients had circulating malignant monoclonal cells. Initial treatment included rituximab, cyclophosphamide, daunorubicin, vincristine, and prednisone (R-CHOP) and CHOP. Subsequent treatment included hematopoietic stem cell transplantation in five patients; two were given maintenance therapy. Splenectomy was done in four patients. Median overall survival (OS) for all the patients has not been reached and exceeds 162 mos: OS at 162 mos was 56%. Achieving a complete remission (CR) after the first treatment was a significant prognostic factor, with a median OS exceeding 141 mos in patients achieving CR, and 16 mos among those not achieving CR (p = 0.0006). Conclusion: Some of MCL patients in Mexico have an indolent clinical course, particularly patients who achieve a CR to initial treatment and who undergo splenectomy.

Index code	Element
ti	article title
au	author
kw	article keywords
subject	subject (title words, abstract and keywords)
ab	abstract
ta	journal short title (e.g. Cad. Saúde Pública)
journal_title	journal full title (e.g. Cadernos de Saúde Pública)
la	publication language code (e.g. pt - Portuguese, es - Spanish)
type	document type
pid	publication identifier
publication_year	publication year of publication
sponsor	sponsor
aff_country	country code of the author's affiliation
aff_institution	author affiliation institution
volume	article volume
issue	article issue
elocation	elocation
doi	DOI number
issn	journal ISSN
in	SciELO colection code (e.g. scl - Brasil, col - Colômbia)
use_license	article usage license code

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