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Your search keyword '"Jacinto, Joana G. P."' showing total 23 results
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23 results on '"Jacinto, Joana G. P."'

2. Evaluation of antimicrobial and non-steroidal anti-inflammatory treatments for BRD on health and welfare in fattening bulls: a cross-sectional study

Author

Masebo, Naod Thomas, primary, Marliani, Giovanna, additional, Shannon Del Re, Flavia, additional, Abram, Laura, additional, Cavallini, Damiano, additional, Di Pietro, Marco, additional, Beltrame, Andrea, additional, Schiavon, Eliana, additional, Bolcato, Marilena, additional, Hernandez Bermudez, Joaquin, additional, Gentile, Arcangelo, additional, and Jacinto, Joana G. P., additional

Published
2024
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4. Evaluation of antimicrobial and non-steroidal antiinflammatory treatments for BRD on health and welfare in fattening bulls: a cross-sectional study

Author

Universidade de Santiago de Compostela. Departamento de Patoloxía Animal, Masebo, Naod Thomas, Hernández Bermúdez, Joaquín, Jacinto, Joana G. P., Universidade de Santiago de Compostela. Departamento de Patoloxía Animal, Masebo, Naod Thomas, Hernández Bermúdez, Joaquín, and Jacinto, Joana G. P.

Abstract

Our study aimed to evaluate the effect of different treatments for BRD on health and welfare in fattening bulls. A total of 264 bulls were enrolled. Welfare was assessed on day 2 (T0) and day 15 (T1) after arrival. A decrease in the welfare level was observed from T0 to T1. All bulls were inspected clinically at T0 and T1 revealing an increase of skin lesions and lameness in T1. In both periods, a high incidence of respiratory disease was observed. A prevalence of 79.55% and 95.45% of Mycoplasma bovis using RT-PCR and culture at T0 and T1 respectively was observed. Blood samples were collected for haematology at T0 and T1. At T0, 36 animals were individually treated for BRD with an antimicrobial (IT), 54 received a metaphylactic treatment with tulathromycin (M), 150 received a metaphylactic treatment with tulathromycin plus a second antimicrobial (M+IT) whereas 24 were considered healthy and therefore not treated (NT). Additionally, 128 were treated with a non-steroid anti-inflammatory (NSAID). Neutrophils of M+IT were significantly higher than groups NT and M and the lymphocytes of M+IT were significantly lower than that of IT. White blood cells, neutrophils and N/L ratio of animals treated with an NSAID was significantly higher than that not treated. Lung inspection of 172 bulls at the abattoir indicated that 92.43% presented at least one lung lesion. A statistically significant effect of the NSAID treatment on the lung lesions was observed. Our findings indicate that BRD was a major welfare and health concern and evidence the difficulties of antimicrobial treatment of M. bovis.

Published
2024

6. MOCOS‐associated renal syndrome in a Brown Swiss cattle

Author

Jacinto, Joana G. P., primary, Küchler, Leonore Bettina, additional, Peters, Laureen M., additional, Van der Vekens, Elke, additional, Gurtner, Corinne, additional, Seefried, Franz R., additional, Meylan, Mireille, additional, and Drögemüller, Cord, additional

Published
2023
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10. Estrus Detection in a Dairy Herd Using an Electronic Nose by Direct Sampling on the Perineal Region

Author

Ali, Asmaa S., primary, Jacinto, Joana G. P., additional, Mϋnchemyer, Wolf, additional, Walte, Andreas, additional, Gentile, Arcangelo, additional, Formigoni, Andrea, additional, Mammi, Ludovica M. E., additional, Csaba Bajcsy, Árpád, additional, Abdu, Mohamed S., additional, Kamel, Mervat M., additional, and Ghallab, Abdel Raouf Morsy, additional

Published
2022
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18. CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle

Author

Häfliger, Irene M., primary, Marchionatti, Emma, additional, Stengård, Michele, additional, Wolf-Hofstetter, Sonja, additional, Paris, Julia M., additional, Jacinto, Joana G. P., additional, Watté, Christine, additional, Voelter, Katrin, additional, Occelli, Laurence M., additional, Komáromy, András M., additional, Oevermann, Anna, additional, Goepfert, Christine, additional, Borgo, Angelica, additional, Roduit, Raphaël, additional, Spengeler, Mirjam, additional, Seefried, Franz R., additional, and Drögemüller, Cord, additional

Published
2021
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20. A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.

Author

Jacinto, Joana G. P., Häfliger, Irene M., Bernardini, Marco, Mandara, Maria Teresa, Bianchi, Ezio, Bolcato, Marilena, Romagnoli, Noemi, Gentile, Arcangelo, and Drögemüller, Cord

Subjects
*GOLDENHAR syndrome, *MISSENSE mutation, *AUTOPSY, *AUDITORY evoked response, *EXTERNAL ear, *EAR, *DYSPLASIA
Abstract

Hemifacial microsomia (HFM) was diagnosed in a 9‐day‐old Romagnola calf. The condition was characterized by microtia of the left ear, anotia of the right ear, asymmetry of the face, and deafness. Magnetic resonance imaging revealed agenesis of the right pinna and both tympanic bullae, asymmetry of the temporal bones and temporomandibular joints, and right pontine meningocele. Brainstem auditory evoked responses confirmed the impaired auditory capacity. At gross post mortem examination, there was agenesis and hypoplasia of the right and the left external ear, respectively. No histological abnormalities were detected in the inner ears. A trio whole‐genome sequencing approach was carried out and identified a private homozygous missense variant in LAMB1 affecting a conserved residue (p.Arg668Cys). Genotyping of 221 Romagnola bulls revealed a carrier prevalence <2%. This represents a report of a LAMB1‐related autosomal recessive inherited disorder in domestic animals and adds LAMB1 to the candidate genes for HFM. [ABSTRACT FROM AUTHOR]

Published
2022
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21. Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?

Author

Matthias Christen, Joana G P Jacinto, Franz Seefried, Irene Monika Häfliger, Julia Maria Paris, Cord Drögemüller, Jacinto, Joana G P, Häfliger, Irene M, Christen, Matthia, Paris, Julia M, Seefried, Franz R, and Drögemüller, Cord

Subjects
Breast Diseases, Heterozygote, 630 Agriculture, Amastia Precision medicine Whole-genome sequencing SGSH, Mutation, Missense, Genetics, Animals, 590 Animals (Zoology), Cattle, Animal Science and Zoology, General Medicine
Abstract

A 5-days-old female purebred Original Braunvieh female calf was referred owing to a congenital absence of teats and cleft palate. Gross pathology revealed the entire absence of the udder including teats, complete palatoschisis affecting both soft and hard palate, hepatomegaly, corneal opacity and an open vulva (Figure S1). Whole genome sequencing (WGS) was performed using genomic DNA obtained from ear tissue from the calf. Reads were mapped to the ARS-UCD1.2 assembly (Rosen et al., 2020), resulting in an average read depth of 14.7×. The WGS data were evaluated as previously described (Jacinto et al., 2021). Variant filtering did not reveal any private homozygous protein-changing variants present in the genome of the affected calf, making a possible recessive inheritance unlikely. Assuming that a spontaneous mutation affecting a protein-coding gene is the cause, filtering for private heterozygous coding variants present in the calf’s genome allowed the identification of six variants with a predicted moderate or high impact (Table S1). These variants were confirmed as true by visual inspection with the integrative genomes viewer software (Robinson et al., 2017). These variants were absent from a total of 5365 controls and a single variant affects SGSH, a putative candidate gene for the observed congenital anomaly. This heterozygous variant at chr19:52427490C>T represents a missense variant in SGSH exon 4 (NM_001102189.2: c.425C>T) (Figure S2). We suspected that the identified variant in SGSH either occurred post-zygotically in the developing embryo or was inherited from a mosaic parent. Unfortunately, no biological samples were available from the parents. The encoded amino acid of SGSH is predicted to be altered at codon 142 (NP_001095659.2: p.Thr142Met) located in the N-sulphoglucosamine sulphohydrolase domain. The substitution of threonine to methionine affects an amino acid that is highly conserved in all species (Figure S2) and has been predicted to be harmful using three different tools (Provean, −4.729; PhD-SNP, 50%; SIFT, 79%).

Published
2022

22. A de novo start-lost variant in ANKRD28 in a Holstein calf with dwarfism

Author

Christine F. Baes, Joana G P Jacinto, Hinayah Oliveira, Irene Monika Häfliger, Cord Drögemüller, Jacinto, Joana G P, Häfliger, Irene M, Baes, Christine F, de Oliveira, Hinayah R, and Drögemüller, Cord

Subjects
630 Agriculture, Genetics, 590 Animals (Zoology), Animals, Cattle Diseases, NA, Cattle, Dwarfism, Animal Science and Zoology, 630 Landwirtschaft, General Medicine, 590 Tiere (Zoologie)
Abstract

NA

Published
2022
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23. CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle

Author

Irene M. Häfliger, Emma Marchionatti, Michele Stengård, Sonja Wolf-Hofstetter, Julia M. Paris, Joana G. P. Jacinto, Christine Watté, Katrin Voelter, Laurence M. Occelli, András M. Komáromy, Anna Oevermann, Christine Goepfert, Angelica Borgo, Raphaël Roduit, Mirjam Spengeler, Franz R. Seefried, Cord Drögemüller, Häfliger, Irene M., Marchionatti, Emma, Stengård, Michele, Wolf-Hofstetter, Sonja, Paris, Julia M., Jacinto, Joana G. P., Watté, Christine, Voelter, Katrin, Occelli, Laurence M., Komáromy, András M., Oevermann, Anna, Goepfert, Christine, Borgo, Angelica, Roduit, Raphaël, Spengeler, Mirjam, Seefried, Franz R., and Drögemüller, Cord

Subjects
retina, 630 Agriculture, Bos taurus, animal model, day-blindness, development, mendelian genetics, precision medicine, rare disease, genetic structures, QH301-705.5, day-blindne, 610 Medicine & health, Article, Chemistry, mendelian genetic, 590 Animals (Zoology), 570 Life sciences, biology, Bos tauru, sense organs, Biology (General), QD1-999
Abstract

Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic variants were found only for rare forms of cataract but not for retinopathies. The aim of this study was to characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. Electroretinography in an affected calf revealed absent cone-mediated function, whereas the rods continue to function normally. Brain areas involved in vision were morphologically normal. When targeting cones by immunofluorescence, a decrease in cone number and an accumulation of beta subunits of cone cyclic-nucleotide gated channel (CNGB3) in the outer plexiform layer of affected animals was obvious. Achromatopsia is a monogenic Mendelian disease characterized by the loss of cone photoreceptor function resulting in day-blindness, total color-blindness, and decreased central visual acuity. After SNP genotyping and subsequent homozygosity mapping with twelve affected cattle, we performed whole-genome sequencing and variant calling of three cases. We identified a single missense variant in the bovine CNGB3 gene situated in a ~2.5 Mb homozygous genome region on chromosome 14 shared between all cases. All affected cattle were homozygous carriers of the p.Asp251Asn mutation that was predicted to be deleterious, affecting an evolutionary conserved residue. In conclusion, we have evidence for the occurrence of a breed-specific novel CNGB3-related form of recessively inherited achromatopsia in Original Braunvieh cattle which we have designated OH1 showing an allele frequency of the deleterious allele of ~8%. The identification of carriers will enable selection against this inherited disorder. The studied cattle might serve as an animal model to further elucidate the function of CNGB3 in mammals.

Published
2021
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