170,113 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
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 textGoing Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Biomarkers 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
Mitomycin C in highly myopic eyes - Author reply
No full textOphthalmology. 2005 Feb;112(2):208-18; discussion 219.
Mitomycin C modulation of corneal wound healing after photorefractive keratectomy in highly myopic eyes.
Gambato C, Ghirlando A, Moretto E, Busato F, Midena E.
SourceRefractive Surgery Service and Antimetabolite Therapy Research Unit, Department of Ophthalmology, University of Padova, Padova, Italy.
Abstract
PURPOSE: To evaluate the role of topical mitomycin C in corneal wound healing (CWH) after photorefractive keratectomy (PRK) in highly myopic eyes.
DESIGN: Prospective, double-masked, randomized clinical trial.
PARTICIPANTS: Seventy-two eyes of 36 patients affected by high (>7 diopters) myopia.
METHODS: In each patient, one eye was randomly assigned to PRK with intraoperative topical 0.02% mitomycin C application, and the fellow eye was treated with a placebo. Postoperatively, mitomycin C-treated eyes received artificial tears (3 times daily, tapered in 3 months), whereas the fellow eye was treated with fluorometholone sodium 2% and artificial tears (3 times daily, tapered in 3 months).
MAIN OUTCOME MEASURES: Uncorrected visual acuity (UCVA) and best-corrected visual acuity (BCVA), contrast sensitivity, manifest refraction, and biomicroscopy. Contrast sensitivity was determined using the Pelli-Robson chart. Corneal confocal microscopy documented CWH.
RESULTS: Mean follow-up was 18 months (range, 12-36). No side effects or toxic effects were documented. At 12-month follow-up examination, UCVAs (logarithm of the minimum angle of resolution) were 0.4+/-0.48 and 0.5+/-0.53 (P = .03) in mitomycin C-treated eyes and corticosteroid-treated eyes, respectively. At 1 year, corneal haze developed in 20% of corticosteroid-treated eyes, versus 0% of mitomycin C-treated eyes. At 12, 24, and 36 months, corneal confocal microscopy showed activated keratocytes and extracellular matrix significantly more evident in untreated eyes (Ps = 0.004, 0.024, and 0.046, respectively).
CONCLUSION: Topical intraoperative application of 0.02% mitomycin C can reduce haze formation in highly myopic eyes undergoing PRK.
Comment in
Ophthalmology. 2006 Feb;113(2):357; author reply 357-8
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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
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