419 research outputs found
Preliminary pathological results on chondrodysplastic dwarfism in Tyrolean Grey cattle due to deletion in the EVC2 gene
No full textPreliminary pathological results on chondrodysplastic
dwarfism in Tyrolean Grey cattle due to deletion
in the EVC2 gene
C Benazzi*, KE Dittmer†, KG Thompson†, C Drögemüller‡, A
Gentile*, LV Muscatello*, L Murgiano‡, C Piffer#, M Bolcato*
and B Brunetti*
*Department of Veterinary Medical Sciences, University of Bologna, 40064
Ozzano dell’Emilia, Italy. Email: [email protected]
†Institute of Veterinary, Animal and Biomedical Sciences, Massey University,
Private Bag 11222, Palmerston North 4442, New Zealand
‡Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern,
Switzerland.
#Gesundheitbezirk Bozen, Laura Conti Strasse 4, 39100 Bozen, Italy.
During July–November 2013 breeders reported the birth of
Italian Tyrolean Grey calves with abnormally short limbs. Seven calves, aged 2–5 months, were referred to the Department of Veterinary Medical Sciences, Bologna, Italy. Whole genome resequencing of an affected calf detected a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. All animals had difficulties in assuming or maintaining a quadrupedal stance, with deterioration in this ability with increased growth.
The limbs were disproportionately short and bulky, variably
rotated and arched in a dumbbell-like position. At necropsy, the limbs (in particular the femur and humerus) were rotated and significantly shortened. Histologically the growth plates of long bones and vertebrae were irregular and prematurely closed. The reserve zone showed variable thickness at the expense of proliferative and hypertrophic zones, which were disorganised with multifocal loss
of the normal columnar arrangement. In one calf reduced development of the heart valves was noted. In three female calves the genital tracts appeared fully mature, with numerous follicle-like structures
on the ovaries. The uteri had multiple polypoid structures
Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations
No full textRENAL dysplasia (RD) is a developmental disorder of the renal parenchyma characterised by anomalous differentiation of the nephrons and collecting ducts (Woolf and others 2004). In human medicine, RD is one of the principal causes of childhood end-stage renal failure. In veterinary medicine, it has been described in several species, including cattle (Dunham and others 1989, Simon and others 1999, Ohba and others 2001, Castro and others 2007, Maxie and Newman 2007, Aresu and others 2009, Philbey and others 2009). In Japanese Black cattle, RD shows autosomal recessive inheritance, caused by CLDN16 mutations (Hirano and others 2000, Ohba and others 2000, Hirano and others 2002). These mutations affect one of the members of the claudin family of genes which plays an important role in the formation of tight junctions in the kidney (Simon and others 1999). In Japanese Black cattle, RD is classified into two types, according to two independent CLDN16 mutations (Hirano and others 2002), but no morphological or histopathological differences between the two types have been reported. This short communication deals with a case of RD in twin grey Alpine heifers which are not related to mutations of the CLDN16 gene
Nuove prospettive di sostenibilità intergenerazionale: la sostenibilità delle materie prime nella transizione tecnologica energetica
No full textL’obiettivo generale di questo articolo è quello di avviare una riflessione, a partire dalla macro tematica relativa alle nuove prospettive della sostenibilità, sulla sostenibilità delle materie prime in un contesto di transizione tecnologica energetica. A partire da una riflessione sul concetto di sostenibilità correlato a quello delle future generazioni, l’obiettivo specifico di questo articolo è quello di presentare la tematica relativa alla sostenibilità tecnologica, o più precisamente, la relazione tra la sostenibilità e la tecnologia e dimostrare che la sostenibilità e la tecnologia fanno sorgere una nuova sfida che coinvolge la produzione di energia pulita a partire dalle nuove tecnologie e dalle materie prime minerarie necessarie al processo
When “mortal remains” become traces: some reflections about the organization of the Alice Piffer Canabrava’s Fund of IEB/USP’s Archive
No full textEste artigo é resultado de uma operação arquivística na qual fazer, sentir e refletir se entrelaçam. Durante os anos de 2015 e 2016, o autor teve contato diário com a documentação de Alice Piffer Canabrava. Em um primeiro momento, narra-se a operação arquivística relacionada ao tratamento da documentação. O segundo momento é fruto de um fazer-sentir a partir desse contato íntimo e diário com a documentação, ou seja, traz algumas reflexões sobre as práticas de autoarquivamento empreendidas por Canabrava.This article is the result of an archivistic operation in which making, feeling and reflecting are intertwined. During 2015 and 2016, the author had daily contact with Alice Piffer Canabrava’s documentation. At first, the archivistic operation related to the handling of documentation is narrated. The second moment is the result of a makingfeel from this intimate and daily contact with the documentation, that is, it brings some ref lections on the self-archiving practices undertaken by Canabrava
Geriatric Nutritional Risk Index and overall-cause mortality prediction in institutionalised elderly : a 3-year survival analysis
No full textBackground & aims: A new tool, the Geriatric Nutritional Risk Index (GNRI), was recently proposed to predict short-term complications in elderly medical patients but no information is available when long-term follow-up periods are considered. Methods: A 3-year follow-up study in 245 institutionalised elderly (51 M:194 F; 83.7 ± 8.6 years). Nutritional risk was graded by GNRI (severe, 98). Main outcome was overall-cause death. Results: After the follow-up 99 (26 M:73 F) events occurred. Nutritional risk prevalence was 5.7%, 24.1%, 34.7% and 35.5% and mortality rates were 71.4%, 48.6% 33.7% and 34.3% with the GNRI 98, respectively. Kaplan-Meier curves were significantly associated to GNRI (p = 0.0068). GNRI 98. Similar results were confirmed by Cox regression (hazard ratio, HR = 2.76 [95%CI: 1.89-4.03], p = 0.0072). Finally, when "severe" and "moderate" risk were analysed as a single class (GNRI < 92) outcome associations were: OR = 2.17, [95%CI: 1.10-4.28] (p = 0.0245); HR = 1.76 [95%CI: 1.34-2.23] (p = 0.0315). Survival analysis showed higher mortality rates by GNRI < 92 (p = 0.0188). Conclusions: Present data support the use of the GNRI in the evaluation of long-term nutrition-related risk of death. We suggest a GNRI < 92 as clinical trigger for nutritional support in institutionalised elderly
Mortality prediction in institutionalised elderly by the Mini Nutritional Assessment and the new Geriatric Nutritional Risk Index : a 3.5-year survival analysis.
No full textBiomarkers in lower respiratory tract infections
No full textThis review aims to provide physicians with an overview of the potential of biomarkers to complement existing clinical severity scores and in conjunction with clinical parameters to improve the diagnosis, risk-stratification and management of lower respiratory tract infections (LRTIs). The usefulness of biomarkers for diagnosing LRTIs is still unclear. However, the specificity of pneumonia diagnosis is high when high sensitivity C-reactive protein (CRP) and procalcitonin (PCT) are used. PCT, CRP and particularly pro-atrial natriuretic peptide (MR-proANP), pro-vasopressin (CT-proAVP) and proadrenomedullin (proADM) levels can reliably predict LRTIs mortality. These markers do not significantly improve the severity scores predictive values, confirming that biomarkers are meant to complement, rather than supersede, clinician's judgment and validated severity scores. Biomarkers, and particularly PCT, are useful tools as antibiotic treatment duration indicators both in pneumonia and exacerbations of chronic obstructive pulmonary disease (COPD). Even if more data are required to fully appreciate the role of biomarkers in LRTIs management, there is emerging evidence that biomarkers have the potential to improve the daily clinical management of LRTIs
Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations
No full textRENAL DYSPLASIA (RD) is a developmental disorder of the renal parenchyma characterized by anomalous differentiation of the nephrons and collecting ducts. In veterinary medicine, it has been described in several species, including cattle. In particular, in Japanese Black cattle, RD shows autosomal recessive inheritance, caused by CLDN16 mutations. This short communication deals with a case of RD in twin Grey Alpine heifers which is not related to mutations of the CLDN16 gene.
RD should be considered when young animals show the following clinical findings: dullness, growth retardation, overgrowth of hooves and severe renal failure. Ultrasound can be strongly suggestive of RD, but only postmortem investigation can definitively confirm the disease. RD should be considered etiologically heterogeneous, as it is in human medicine.
Eight-month-old twin Grey Alpine heifers were referred due to severe depression, poor appetite, growth retardation and overgrowth of hooves. Clinical biochemistry indicated the presence of renal failure. Ultrasonographic examination showed a severe disorganization of the renal parenchyma. Major finding was an increased echogenicity of both the renal cortex and the renal medulla. On gross postmortem examination the kidneys were hypotrophic, firm and pale, and had a roughened and granular surface. At the cut surface, dense cortical and medullar fibrosis, and fibrous wedges extending from the pelvis to the cortex were evident. At histopathology the kidneys showed diffuse and massive infiltration of immature mesenchymal tissue forming a net with evident parallel ridges, connected with transversal bridges, which gave a pseudo-lobular appearance to the renal tissue. The cortex was thin and presented primitive tubules lined by cuboidal epithelium on a thickened basal membrane, and immature glomeruli at different developmental stages. The medulla showed persistent mesenchyme and many primitive tubules lined by pseudostratified, columnar, epithelial cells.
DNA of the affected animals, their dam as well as from a single unrelated animal, was screened for two different mutations of the CLDN16 gene responsible for inherited renal tubular dysplasia (RTD) in Japanese Black (Wagyu) cattle. The presence of a genomic deletion, such as that in Wagyu cattle, was excluded. Moreover, the re-sequencing of the PCR products revealed no polymorphisms affecting the coding sequence or consensus splice sites of CLDN16.
This study showed a nephrologic syndrome phenotypically overlapping RD in Japanese Black cattle but which is not associated with mutations affecting the CLDN16 gene.
Hopefully, this paper will alert bovine practitioners and breeders to the importance of reporting animals with the above-mentioned clinical findings to research or diagnostic centers for thorough evaluation
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle
No full textBackground
Renal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular dysplasia found in Japanese Black cattle which is associated with mutations in the claudin 16 gene. Despite demonstrating striking phenotypic similarities, no obvious presence of pathogenic variants of this candidate gene were found. Therefore further analysis was required to decipher the genetic etiology of the condition.
Results
The family history of the cases suggested the possibility of an autosomal recessive inheritance. Homozygosity mapping combined with sequencing of the whole genome of one case detected two associated non-synonymous private coding variants: A homozygous missense variant in the uncharacterized KIAA2026 gene (g.39038055C > G; c.926C > G), located in a 15 Mb sized region of homozygosity on BTA 8; and a homozygous 1 bp deletion in the molybdenum cofactor sulfurase (MOCOS) gene (g.21222030delC; c.1881delG and c.1782delG), located in an 11 Mb region of homozygosity on BTA 24. Pathogenic variants in MOCOS have previously been associated with inherited metabolic syndromes and xanthinuria in different species including Japanese Black cattle. Genotyping of two additional clinically suspicious cases confirmed the association with the MOCOS variant, as both animals had a homozygous mutant genotype and did not show the variant KIAA2026 allele. The identified genomic deletion is predicted to be highly disruptive, creating a frameshift and premature termination of translation, resulting in severely truncated MOCOS proteins that lack two functionally essential domains. The variant MOCOS allele was absent from cattle of other breeds and approximately 4% carriers were detected among more than 1200 genotyped Tyrolean Grey cattle. Biochemical urolith analysis of one case revealed the presence of approximately 95% xanthine.
Conclusions
The identified MOCOS loss of function variant is highly likely to cause the renal syndrome in the affected animals. The results suggest that the phenotypic features of the renal syndrome were related to an early onset form of xanthinuria, which is highly likely to lead to the progressive defects. The identification of the candidate causative mutation thus enables selection against this pathogenic variant in Tyrolean Grey cattle
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean grey cattle
No full textDuring the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle
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