135 research outputs found
Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle.
No full textThe term 'paunch calf syndrome' encompasses the multi-organic lethal developmental dysplasia reported in the Romagnola breed of cattle and is characterised by facial deformities, an enlarged and floating abdomen containing considerable abdominal effusion, and hepatic fibrosis. Paunch calf syndrome is caused by a missense mutation in the KDM2B gene (c.2503G>A) that is thought to lead to an amino acid exchange (p.D835N). In this study, the prevalence of carriers of the mutant KDM2B allele (and thus the frequency of the allele) was assessed in selected subpopulations of Romagnola cattle. The prevalence of carriers within top-ranked Romagnola sires over the years 2007-2012 was 29.3% (allele frequency 14.6%). In young bull calves, 30.9% were carriers with an allele frequency of 15.4%
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
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires
No full textBovine congenital pseudomyotonia (PMT) is a genetic disease in Chianina and other breeds of cattle that induces muscular stiffness. PMT in the Chianina breed is caused by a missense mutation in exon 6 of the ATP2A1 gene, which encodes the SERCA1 pump. In this study, the prevalence of PMT carriers and the frequency of the deleterious PMT allele in selected subpopulations of the Chianina breed were estimated. The prevalence of PMT carriers among ranked Chianina sires used for artificial insemination in the years 2007-2011 was 13.6%. The frequency of PMT carriers in young bull calves born in the period January 2007 to June 2011 selected for a performance testing programme was 13.4%. Selective breeding against this genetic defect is restricted to males only and therefore is predicted to require at least seven generations to eradicate PMT
L'epidemia, la cura, la responsabilità e le scelte che non avremmo mai voluto fare
No full textThe emergency due to the COVID 19 epidemic in Italy has forced important changes in the way of life of citizens and in health care. The contribution discusses some medico-legal aspects inherent in the Recommendations issued by the Italian Society of Anesthesia and Resuscitation (SIAARTI) regarding the criteria for allocating intensive care resources. In addition, aspects related to possible medical professional liability profiles related to cases due to the epidemic are taken into consideration. Areas of improvement of management strategies aimed at maintaining essential services and the contribution that can be made by forensic medicine in scientific research to combat the epidemic are also suggested
Linee guida e responsabilità professionale medica. Un rapporto complesso alla luce delle novità legislative: una rassegna casistica
No full textThe law and legislation evolution of case about the issue of medical professional liability has not been linear in italy in
recent decades. recently, some innovations has been introduced by the so-called “legge Balduzzi”, in order to clear up
the matter. He conducted a review of cases on medical-legal contentious related to an Venetian hospital company for the
period from November 2012 to december 2015. The target was to assess if the new regulatory changes have affected
the management of the aforementioned contentious. research object were references in the documentation relating to
the dispute: adherence to recommendations contained in the guidelines, the inexperience, to gross negligence. it turned
out that, during the tested period, the number of references made to guidelines had increased, reflecting the fact that the
Balduzzi law had started to be integrated into the reasoning on medical liability. explicit charges of incompetence were
reduced, even in cases in which it should have been necessary conclusion of the arguments of the applicant; furthermore,the mention of any gross negligence is almost always avoided. it is not possible to predict future developments. as fornegligence and incompetence, guidelines refer, on the one hand, to the ddl 2224 (also known as “ddl gelli”) — which iscurrently under discussion in the Senate — and on the other, to a new case-law introduced by the corte di cassazione sez. IV penale, con sentenza 6 giugno 2016, n. 23283
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis
No full textN
Supplemental_Material – Supplemental material for Twenty Years of Hepatitis C in the Treviso District (Local Health Unit 2): Treatments, Clinical Management and Cost Analysis
No full textSupplemental material, Supplemental_Material for Twenty Years of Hepatitis C in the Treviso District (Local Health Unit 2): Treatments, Clinical Management and Cost Analysis by Annachiara Bellin, Giulia Franchin, Jenny Bolcato, Alessandra Bettiol, Roberta Pirolo, Alberto Schiavon, Pietro Giusti, Michele Tessarin and Alessandro Chinellato in Global & Regional Health Technology Assessment</p
Synthesis, biological activity and molecular modeling investigation of 1,3-dimethyl-2,4-dioxo-6-methyl-8-(substituted)-1,2,3,4-tetrahydro[1,2,4]triazolo[3,4-f]purines as potential adenosine receptor antagonists.
No full textSurvey on health students’ knowledge and perception on body donation for scientific research, education, and training after specific Italian law no. 10/2020
No full textBackground: Practicing on the human body was considered extremely relevant for health professionals’ education, but a drastic reduction was observed due to an increase in alternative virtual and multimedia means, and, in Italy, also due to a lack of regulation. Italian Law 10/2020 regulates body donation for research and training through an advanced directive for post-mortem body donation. Methods: A cross-sectional study was carried out to investigate the law knowledge and body donation perception of health students of any degree courses enrolled at the University of Pavia, Italy, in 2021, through ad hoc web questionnaire. Results: 485 students participated to this survey; median age was of 21 years (25th-75th percentiles, 20–23), 73.2% were females, and 62.5% were medical students. Among them 14.9% knew the Italian law 10/2020. Age was the only variable associated with students’ knowledge of the law. Further, 8.3% reported the current availability of cadaveric practice, 85.6% of health students acknowledged usefulness of cadaveric practice, with a significant difference between medical and non-medical students (71.4% vs 28.6%, p < 0.001). Overall, 59.7% would donate their body, rising to 62.7% with reference to specific law regulation, with 30.5% and 28.7% undecided, respectively. 51.3% of participants answered not practicing religious faith, 82.9% with Catholic families, without significance on the knowledge of the law. Conclusions: Poor knowledge of the law compared with great interest and acknowledged cadaveric practice usefulness highlighted the need for better information, especially among health students, where critical discussion could be more valuable. Then, there arises the urgent need to fill the gaps within university studies and syllabuses, to relaunch the central role that cadaveric practice and research had in the education of health professionals. Consequences on basic and specific health students’ skills, on health education quality in general, and further on health professionals’ expertise must be carefully considered
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