A cryptic variation in a member of the Ovate Family Proteins is underlying the melon fruit shape QTL fsqs8.1

Melon cultivars have a wide range of fruit morphologies. Quantitative trait loci (QTL) have been identifed underlying such diversity. This research focuses on the fruit shape QTL fsqs8.1, previously detected in a cross between the accession PI 124112 (CALC, producing elongated fruit) and the cultivar ‘Piel de Sapo’ (PS, producing oval fruit). The CALC fsqs8.1 allele induced round fruit shape, being responsible for the transgressive segregation for this trait observed in that population. In fact, the introgression line CALC8-1, carrying the fsqs8.1 locus from CALC into the PS genetic background, produced perfect round fruit. Following a map-based cloning approach, we found that the gene underlying fsqs8.1 is a member of the Ovate Family Proteins (OFP), CmOFP13, likely a homologue of AtOFP1 and SlOFP20 from Arabidopsis thaliana and tomato, respectively. The induction of the round shape was due to the higher expression of the CALC allele at the early ovary development stage. The fsqs8.1 locus showed an important structural variation, being CmOFP13 surrounded by two deletions in the CALC genome. The deletions are present at very low frequency in melon germplasm. Deletions and single nucleotide polymorphisms in the fsqs8.1 locus could not be not associated with variation in fruit shape among diferent melon accessions, what indicates that other genetic factors should be involved to induce the CALC fsqs8.1 allele efects. Therefore, fsqs8.1 is an example of a cryptic variation that alters gene expression, likely due to structural variation, resulting in phenotypic changes in melon fruit morphology.info:eu-repo/semantics/publishedVersio

Clinical and pathological characterization of Lynch-Like Syndrome

Background & aims: Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins-this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features. Methods: We collected data from a nationwide-registry of patients with colorectal cancer (CRC) in Spain. We identified patients whose colorectal tumors had loss of MSH2, MSH6, PMS2, or MLH1 (based on immunohistochemistry), without the mutation encoding V600E in BRAF (detected by real-time PCR), and/or no methylation at MLH1 (determined by methylation-specific multiplex ligation-dependent probe amplification), and no pathogenic mutations in MMR genes, BRAF, or EPCAM (determined by DNA sequencing). These patients were considered to have LLS. We collected data on demographic, clinical, and pathology features and family history of neoplasms. The χ2 test was used to analyze the association between qualitative variables, followed by the Fisher exact test and the Student t test or the Mann-Whitney test for quantitative variables. Results: We identified 160 patients with LLS; their mean age at diagnosis of CRC was 55 years and 66 patients were female (41%). The Amsterdam I and II criteria for Lynch syndrome were fulfilled by 11% of cases and the revised Bethesda guideline criteria by 65% of cases. Of the patients with LLS, 24% were identified in universal screening. There were no proportional differences in sex, indication for colonoscopy, Immunohistochemistry, pathology findings, or personal history of CRC or other Lynch syndrome-related tumors between patients who met the Amsterdam and/or Bethesda criteria for Lynch syndrome and patients identified in universal screening for Lynch syndrome, without a family history of CRC. Conclusions: Patients with LLS have homogeneous clinical, demographic, and pathology characteristics, regardless of family history of CRC

Factors related to the effectiveness of variable stiffness colonoscope: results of a multivariate analysis

Background: Various studies and two meta-analysis have shown that a variable stiffness colonoscope improves cecal intubation rate. However, there are few studies on how this colonoscope should be used. Objective: The aim of this study was to identify factors related to the advancement of the colonoscope when the variable stiffness function is activated. Methods: Prospective study enrolling consecutive patients referred for colonoscopy. The variable stiffness colonoscope (Olympus CF-H180DI/L®) was used. We performed univariate and multivariate analyses of factors associated with the success of the variable stiffness function. Results: After the data inclusion period, 260 patients were analyzed. The variable stiffness function was used most in the proximal colon segments (ascending and transverse colon 85 %; descending/sigmoid colon 15.2 %). The body mass index was lower in patients in whom the endoscope advanced after activating the variable stiffness than those in which it could not be advanced (25.9 ± 4.8 vs. 28.3 ± 5.4 kg/m², p = 0.009). The endoscope advanced less frequently when the stiffness function was activated in the ascending colon versus activation in other segments of the colon (25 % vs. 64.5 % ascending colon vs. other segments; p < 0.05). In the multivariate analysis, only the colon segment in which the variable stiffness was activated was an independent predictor of advancement of the colonoscope. Conclusions: The variable stiffness function is effective, allowing the colonoscope advancement especially when applied in the transverse colon, descending colon and sigmoid. However, when used in the ascending colon it has a lower effectiveness

The Colonoscopy Satisfaction and Safety Questionnaire (CSSQP) for Colorectal Cancer Screening: A Development and Validation Study

Colonoscopy services working in colorectal cancer screening programs must perform periodic controls to improve the quality based on patients&#8217; experiences. However, there are no validated instruments in this setting that include the two core dimensions for optimal care: satisfaction and safety. The aim of this study was to design and validate a specific questionnaire for patients undergoing screening colonoscopy after a positive fecal occult blood test, the Colonoscopy Satisfaction and Safety Questionnaire based on patients&#8217; experience (CSSQP). The design included a review of available evidence and used focus groups to identify the relevant dimensions to produce the instrument (content validity). Face validity was analyzed involving 15 patients. Reliability and construct and empirical validity were calculated. Validation involved patients from the colorectal cancer screening program at two referral hospitals in Spain. The CSSQP version 1 consisted of 15 items. The principal components analysis of the satisfaction items isolated three factors with saturation of elements above 0.52 and with high internal consistency and split-half readability: Information, Care, and Service and Facilities features. The analysis of the safety items isolated two factors with element saturations above 0.58: Information Gaps and Safety Incidents. The CSSQP is a new valid and reliable tool for measuring patient&#8217; experiences, including satisfaction and safety perception, after a colorectal cancer screening colonoscopy

A cryptic variation in a member of the Ovate Family Proteins is underlying the melon fruit shape QTL fsqs8.1

Key message: The gene underlying the melon fruit shape QTL fsqs8.1 is a member of the Ovate Family Proteins. Variation in fruit morphology is caused by changes in gene expression likely due to a cryptic structural variation in this locus. Abstract: Melon cultivars have a wide range of fruit morphologies. Quantitative trait loci (QTL) have been identified underlying such diversity. This research focuses on the fruit shape QTL fsqs8.1, previously detected in a cross between the accession PI 124112 (CALC, producing elongated fruit) and the cultivar 'Piel de Sapo' (PS, producing oval fruit). The CALC fsqs8.1 allele induced round fruit shape, being responsible for the transgressive segregation for this trait observed in that population. In fact, the introgression line CALC8-1, carrying the fsqs8.1 locus from CALC into the PS genetic background, produced perfect round fruit. Following a map-based cloning approach, we found that the gene underlying fsqs8.1 is a member of the Ovate Family Proteins (OFP), CmOFP13, likely a homologue of AtOFP1 and SlOFP20 from Arabidopsis thaliana and tomato, respectively. The induction of the round shape was due to the higher expression of the CALC allele at the early ovary development stage. The fsqs8.1 locus showed an important structural variation, being CmOFP13 surrounded by two deletions in the CALC genome. The deletions are present at very low frequency in melon germplasm. Deletions and single nucleotide polymorphisms in the fsqs8.1 locus could not be not associated with variation in fruit shape among different melon accessions, what indicates that other genetic factors should be involved to induce the CALC fsqs8.1 allele effects. Therefore, fsqs8.1 is an example of a cryptic variation that alters gene expression, likely due to structural variation, resulting in phenotypic changes in melon fruit morphology