Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated aneuploidy and reminiscent dysmorphic traits of mosaic variegated aneuploidy syndrome. We performed a mutational analysis of BUB1 and BUB3 in 456 uncharacterized mismatch repair-proficient hereditary non-polyposis CRC families and 88 polyposis cases. Four novel or rare germline variants, one splice-site and three missense, were identified in four families. Neither variegated aneuploidy nor dysmorphic traits were observed in carriers. Evident functional effects in the heterozygous form were observed for c.1965-1G>A, but not for c.2296G>A (p.E766K), in spite of the positive co-segregation in the family. BUB1 c.2473C>T (p.P825S) and BUB3 c.77C>T (p.T26I) remained as variants of uncertain significance. As of today, the rarity of functionally relevant mutations identified in familial and/or early onset series does not support the inclusion of BUB1 and BUB3 testing in routine genetic diagnostics of familial CRC

Complications of Peripherally Inserted Central Venous Catheters: A Retrospective Cohort Study

Background and Aim The use of venous catheters is a widespread practice, especially in oncological and oncohematological units. The objective of this study was to evaluate the complications associated with peripherally inserted central catheters (PICCs) in a cohort of patients. Materials and Methods In this retrospective cohort study, we included all patient carrying PICCs (n = 603) inserted at our institute between October 2010 and December 2013. The main variables collected were medical diagnosis, catheter care, location, duration of catheterization, reasons for catheter removal, complications, and nursing care. Complications were classified as infection, thrombosis, phlebitis, migration, edema, and/or ecchymosis. Results All patients were treated according to the same “nursing care” protocol. The incidence rate of complications was two cases per 1000 days of catheter duration. The most relevant complications were infection and thrombosis, both with an incidence of 0.17 cases per 1000 days of the total catheterization period. The total average duration of catheterization was 170 days [SD 6.06]. Additionally to “end of treatment” (48.42%) and “exitus”, (22.53%) the most frequent cause of removal was migration (displacement towards the exterior) of the catheter (5.80%). Conclusions PICCs are safe devices that allow the administration of long-term treatment and preserve the integrity of the venous system of the patient. Proper care of the catheter is very important to improve the quality life of patients with oncologic and hematologic conditions. Therefore, correct training of professionals and patients as well as following the latest scientific recommendations are particularly relevant

Low-density lipoprotein cholesterol and suicidal behaviour in a large sample of first-episode psychosis patients

<p><b>Objectives:</b> Our aims were to confirm the relationship between lipid and lipoprotein concentrations and suicidal behaviour in first-episode psychosis (FEP) patients.</p> <p><b>Methods:</b> Suicidal behaviour was explored in a large FEP sample (<i>N</i> = 383). Baseline lipid profile was compared between those who attempted or completed suicide and those who not presented suicidal behaviour.</p> <p><b>Results:</b> Low-density lipoprotein cholesterol (LDL-c) (OR = 0.99, 95% CI= 0.98–1.00) and depressive symptoms (OR = 1.15, 95% CI = 1.06–1.24) were significantly related with suicidal behaviour.</p> <p><b>Conclusions:</b> Lipid profile test may be considered in the assessment of suicide risk in psychosis and LDL-c an important biological marker.</p

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated aneuploidy and reminiscent dysmorphic traits of mosaic variegated aneuploidy syndrome. We performed a mutational analysis of BUB1 and BUB3 in 456 uncharacterized mismatch repair-proficient hereditary non-polyposis CRC families and 88 polyposis cases. Four novel or rare germline variants, one splice-site and three missense, were identified in four families. Neither variegated aneuploidy nor dysmorphic traits were observed in carriers. Evident functional effects in the heterozygous form were observed for c.1965-1G>A, but not for c.2296G>A (p.E766K), in spite of the positive co-segregation in the family. BUB1 c.2473C>T (p.P825S) and BUB3 c.77C>T (p.T26I) remained as variants of uncertain significance. As of today, the rarity of functionally relevant mutations identified in familial and/or early onset series does not support the inclusion of BUB1 and BUB3 testing in routine genetic diagnostics of familial CRC

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated aneuploidy and reminiscent dysmorphic traits of mosaic variegated aneuploidy syndrome. We performed a mutational analysis of BUB1 and BUB3 in 456 uncharacterized mismatch repair-proficient hereditary non-polyposis CRC families and 88 polyposis cases. Four novel or rare germline variants, one splice-site and three missense, were identified in four families. Neither variegated aneuploidy nor dysmorphic traits were observed in carriers. Evident functional effects in the heterozygous form were observed for c.1965-1G>A, but not for c.2296G>A (p.E766K), in spite of the positive co-segregation in the family. BUB1 c.2473C>T (p.P825S) and BUB3 c.77C>T (p.T26I) remained as variants of uncertain significance. As of today, the rarity of functionally relevant mutations identified in familial and/or early onset series does not support the inclusion of BUB1 and BUB3 testing in routine genetic diagnostics of familial CRC

Is Microarray Analysis Really Useful and Sufficient to Diagnose Nut Allergy in the Mediterranean Area?

Background: Component-based diagnosis on multiplex platforms is widely used in food allergy but its clinical performance has not been evaluated in nut allergy. Objective: To assess the diagnostic performance of a commercial protein microarray in the determination of specific IgE (sIgE) in peanut, hazelnut, and walnut allergy. Methods: sIgE was measured in 36 peanut-allergic, 36 hazelnut-allergic, and 44 walnut-allergic patients by ISAC 112, and subsequently, sIgE against available components was determined by ImmunoCAP in patients with negative ISAC results. ImmunoCAP was also used to measure sIgE to Ara h 9, Cor a 8, and Jug r 3 in a subgroup of lipid transfer protein (LTP)-sensitized nut-allergic patients (positive skin prick test to LTP-enriched extract). sIgE levels by ImmunoCAP were compared with ISAC ranges. Results: Most peanut-, hazelnut-, and walnut-allergic patients were sensitized to the corresponding nut LTP (Ara h 9, 66.7%; Cor a 8, 80.5%; Jug r 3, 84% respectively). However, ISAC did not detect sIgE in 33.3% of peanut-allergic patients, 13.9% of hazelnut-allergic patients, or 13.6% of walnut-allergic patients. sIgE determination by ImmunoCAP detected sensitization to Ara h 9, Cor a 8, and Jug r 3 in, respectively, 61.5% of peanut-allergic patients, 60% of hazelnut-allergic patients, and 88.3% of walnut-allergic patients with negative ISAC results. In the subgroup of peach LTP–sensitized patients, Ara h 9 sIgE was detected in more cases by ImmunoCAP than by ISAC (94.4% vs 72.2%, P<.05). Similar rates of Cor a 8 and Jug r 3 sensitization were detected by both techniques. Conclusions: The diagnostic performance of ISAC was adequate for hazelnut and walnut allergy but not for peanut allergy. sIgE sensitivity against Ara h 9 in ISAC needs to be improved.Introducción: La utilidad clínica del diagnóstico por componentes no ha sido evaluada en el estudio de la alergia a frutos secos (FS). Objetivo: Evaluar la capacidad diagnóstica de una micromatriz comercial de proteínas alergénicas en la alergia a cacahuete, avellana y nuez. Métodos: Se determinó la sIgE en pacientes alérgicos a FS mediante la micromatriz ISAC 112, e ImmunoCAP en los pacientes con sIgE negativa frente a los componentes de ISAC. Además, se realizó ImmunoCAP frente a Ara h 9, Cor a 8 y Jug r 3 en un subgrupo de pacientes sensibilizados a LTP. La sIgE detectada por ImmunoCAP fue comparada con los rangos de ISAC. Resultados: La mayoría de los alérgicos a cacahuete (66,7%), avellana (80,5%) y nuez (84%) estaba sensibilizados a su LTP. Sin embargo, no se detectó sIgE frente a los componentes de ISAC en el 33,3% de alérgicos a cacahuete, 13,9% de alérgicos a avellana y 13,6% de los alérgicos a nuez. El ImmunoCAP permitió detectar sIgE a Ara h 9 en 61,5%, Cor a 8 en 60% y Jug r 3 en 83,3% de los ISAC negativo. En el subgrupo LTP, ImmunoCAP (94,4%) fue superior a ISAC (72,2%) en la detección de sIgE a Ara h 9 (p<0,05). La sIgE frente a Cor a 8 y Jug r 3 fue detectada de forma similar por ambas técnicas. Conclusiones: La micromatriz ISAC es adecuada para el diagnóstico de alergia a avellana y nuez. La sensibilidad del componente Ara h 9 de ISAC debe ser mejorada