Julian Crespi - Academia.edu (original) (raw)
Papers by Julian Crespi
X Jornadas Internacionales de Veterinaria Práctica (Mar del Plata, 25 y 26 de agosto de 2017), 2017
Existen aproximadamente 700 enfermedades en caninos de origen genético de las cuales solo el 30% ... more Existen aproximadamente 700 enfermedades en caninos de origen genético de las cuales solo el 30% tiene descripta la mutación causal. El incremento de la prevalencia de éstas se debe a la gran presión de selección en la formación de las razas. El objetivo de esta tesis fue obtener un primer registro poblacional en Argentina de tres enfermedades de origen genético. Para este fin se desarrolló un método de genotipado basado en pirosecuenciación de las mutaciones causales de la Degeneración progresiva de conos y bastones (PRCD), Enfermedad de von Willebrand (EvW) y de la Sensibilidad a fármacos (MDR1 /ABCB1). La PRCD es un tipo de atrofia de retina que afecta perros de diferentes razas a partir de los 3 – 5 años, causada por una puntual G>A en el exón 1 del gen PRCD. En este trabajo la frecuencia encontrada del alelo que ocasiona la enfermedad en Caniche Toy fue de 0,2 y la frecuencia encontrada en la población analizada de Labradores Retriever fue de 0,06. La EvW está determinada po...
Genética forense no-humana, 2015
Forensic Sciences Research, 2021
Giovambatista (2021): An inter-laboratory study of DNA-based identity, parentage and species test... more Giovambatista (2021): An inter-laboratory study of DNA-based identity, parentage and species testing in animal forensic genetics, Forensic Sciences Research,
Reproduction in domestic animals = Zuchthygiene, 2020
Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observ... more Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observed. Although the number of twins has consistently increased, triplet and quadruplet pregnancies represent 0.015 and 0.004% of the total births, respectively. Multiple births are the result of multiple ovulation and/or the spontaneous cleavage of one fertilized oocyte, which is known as monozygotic (MZ) twinning. In cattle, approximately 5 to 14% of all twin births are MZ, and births with more than two MZ calves are extremely rare. Monozygotic animals are genetically identical, and those derived from two or more zygotes are genetically different. Furthermore, the presence of placental vascular anastomosis can result in fetal chimerism. Notwithstanding, animals born as single calves can be chimeras when one of the fetal twins dies undetected in utero. Here we used DNA testing to study the zygotic condition of an unusual female quadruplet born from a Braford cow bred in a multi-sire natural...
Veterinary and Comparative Orthopaedics and Traumatology, 2020
Objective The aim of this study was to investigate the prevalence of cranial cruciate ligament ru... more Objective The aim of this study was to investigate the prevalence of cranial cruciate ligament rupture and patellar luxation and the associated risk factors in dogs. Materials and Methods A total of 13,072 clinical records of dogs were reviewed from School Hospital (Faculty of Veterinary Sciences, National University of La Plata). Data of age, breed, sex, body weight, patellar luxation and cranial cruciate ligament rupture condition were registered. Chi-squared and Fisher's exact tests were used to compare the prevalence of cranial cruciate ligament rupture and patellar luxation with the variables and then univariable logistic regression was used to evaluate the risk of having cranial cruciate ligament rupture and patellar luxation. Multivariable logistic regression was used including all variables to assess the odds of having patellar luxation and cranial cruciate ligament rupture. Results Of 13,072 patients treated, 72 and 51 had cranial cruciate ligament rupture and patellar ...
![Research paper thumbnail of Detección mediante pirosecuenciación de la mutación nt230 [del4] del gen ABCB1 canino y determinación de su prevalencia en razas de perros pastores en la provincia de Buenos Aires](https://attachments.academia-assets.com/92386344/thumbnails/1.jpg)
](Analecta Veterinaria, 2018
El gen ABCB1 codifica para la glicoproteína P (Pgp), una proteína de membrana que transporta múlt... more El gen ABCB1 codifica para la glicoproteína P (Pgp), una proteína de membrana que transporta múltiples fármacos fuera de la célula. Este gen se expresa principalmente en la barrera hematoencefálica, cumpliendo también importantes funciones en otros órganos. En caninos, se ha informado una deleción de 4 pb en el exón 4, que genera una terminación prematura y una proteína no funcional. Los animales homocigotos para la mutación presentan neurotoxicidad al administrarles drogas como las avermectinas. Esta mutación ha sido comunicada principalmente en collie, border collie y otras razas de perros pastores. El objetivo del trabajo consistió en desarrollar un método de diagnóstico rápido de la mutación nt230 [del4] del gen ABCB1 basado en pirosecuenciación y validarla en una población local. Se analizaron 72 perros mediante pirosecuenciación y secuenciación directa. Los resultados obtenidos con ambas técnicas evidenciaron 100 % de concordancia. El cálculo de la frecuencia génica del alelo ...
Legal Medicine, 2016
Dog fecal samples were collected at the crime scene and from the shoes of the suspect to see whet... more Dog fecal samples were collected at the crime scene and from the shoes of the suspect to see whether they could be linked. DNA was genotyped using a 145 bp fragment containing a 60 bp hotspot region of the mitochondrial DNA (mtDNA) control region. Once the species origin was identified, sequences were aligned with the 23 canine haplotypes defined, showing that evidence and reference had 100% identity with haplotype 5. The frequency of haplotype 5 and the exclusion power of the reference population were 0.056 and 0.89, respectively. The forensic index showed that it was 20 times more likely that the evidence belonged to the reference dog than to some other unknown animal. The results support that the mtDNA hypervariable region 1 (HV1) is a good alternative for typing in trace or degraded casework samples when the STR panel fails, and demonstrate the utility of domestic animal samples to give additional information to solve human legal cases.
The Japanese Journal of Veterinary Dermatology, 2013
Juvenile generalized demodicosis (JGD) is a common condition in dogs, and is associated with gene... more Juvenile generalized demodicosis (JGD) is a common condition in dogs, and is associated with genetic and immunological factors. It is not a contagious or zoonotic disease, however, it is a serious disease, being potentially dangerous to affected animal´s lives. JGD affects most breeds of dog, though the predisposition of certain breeds has been noted. In this study, we analyzed 499 records of the Small Animal Hospital (Faculty of Veterinarian Sciences, National University of La Plata, Argentina) covering the period 1998-2006. In all cases, the dogs tested were primarily considered have had some type of dermatological disease, and among them 28 cases were eventually diagnosed as demodectic mange. Twenty-eight out of 499 cases found juvenile generalized demodicosis. Coincident with the data reported by other research, this study evidenced that certain breeds, such as Boxer, German Shepherd and mixed breed dogs had a higher prevalence of JGD. These results support the hypothesis that certain breeds of dogs have a greater predisposition to JGD.
Veterinary Immunology and Immunopathology, 2013
Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occu... more Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occurs in German shepherd dogs (GSDs). Several studies support the hypothesis that CSK is an immune-mediated disease. To investigate the genetic factors associated with CSK development, the upstream regulatory regions (URRs) of the DLA-DRB,-DQA and-DQB genes were genotyped in 60 dogs, including 32 CSK animals. LD analysis identified two blocks (r 2 ≤ 45), with two DLA-DRB1 and five DLA-DQB1 haplotypes. Analysis of DLA-URR alleles/haplotypes showed a significant association between DQB1*-154 [C/T] (p = 0.016) and CSK, suggesting that the T variant may increase the risk for developing CSK disease (OR = 3, 95% CI = 1.25-7.68). When haplotype associations were performed, the URR-DQB*CATT haplotype was significantly associated with CSK (p = 0.016), increasing the risk of develop this disease over twofold (OR = 3, 95%, CI = 1.25-7.68). These results showed that dogs homozygous at DRB1*69 [C/T] had a risk for developing CSK disease that was over four times the risk for heterozygotes. This genetic association supports the previous clinical, histological and pharmacological studies that suggest that CSK is an immune-mediated disease, and this association could potentially be used to identify susceptible animals.
Trabajo publicado en La calidad en la produccion y los servicios: promotora del desarrollo y la i... more Trabajo publicado en La calidad en la produccion y los servicios: promotora del desarrollo y la innovacion. Buenos Aires: IRAM, 2017.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc, 2018
von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in D... more von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G>A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argentina. We found a 0.41 frequency for the mutated allele, which varied significantly within families (family 1 = 0.43, family 2 = 0.58, unrelated animals = 0.35). The use of a popular founder male carrier of mutant allele A increased vWD incidence within a family and in the general population. The mode of inheritance was confirmed as autosomal dominant with incomplete penetrance. No differences were found between sexes and coat colors. Pyrosequencing was a good complement to clinical and coagulation tests for vWD type 1 diagnosis and a useful alternative for detecting the c.7437G>A mutation.
Veterinary Immunology and Immunopathology, 2013
Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occu... more Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occurs in German shepherd dogs (GSDs). Several studies support the hypothesis that CSK is an immune-mediated disease. To investigate the genetic factors associated with CSK development, the upstream regulatory regions (URRs) of the DLA-DRB, -DQA and -DQB genes were genotyped in 60 dogs, including 32 CSK animals. LD analysis identified two blocks (r(2)≤45), with two DLA-DRB1 and five DLA-DQB1 haplotypes. Analysis of DLA-URR alleles/haplotypes showed a significant association between DQB1*-154 [C/T] (p=0.016) and CSK, suggesting that the T variant may increase the risk for developing CSK disease (OR=3, 95% CI=1.25-7.68). When haplotype associations were performed, the URR-DQB*CATT haplotype was significantly associated with CSK (p=0.016), increasing the risk of develop this disease over two-fold (OR=3, 95%, CI=1.25-7.68). These results showed that dogs homozygous at DRB1*69 [C/T] had a risk for developing CSK disease that was over four times the risk for heterozygotes. This genetic association supports the previous clinical, histological and pharmacological studies that suggest that CSK is an immune-mediated disease, and this association could potentially be used to identify susceptible animals.
X Jornadas Internacionales de Veterinaria Práctica (Mar del Plata, 25 y 26 de agosto de 2017), 2017
Existen aproximadamente 700 enfermedades en caninos de origen genético de las cuales solo el 30% ... more Existen aproximadamente 700 enfermedades en caninos de origen genético de las cuales solo el 30% tiene descripta la mutación causal. El incremento de la prevalencia de éstas se debe a la gran presión de selección en la formación de las razas. El objetivo de esta tesis fue obtener un primer registro poblacional en Argentina de tres enfermedades de origen genético. Para este fin se desarrolló un método de genotipado basado en pirosecuenciación de las mutaciones causales de la Degeneración progresiva de conos y bastones (PRCD), Enfermedad de von Willebrand (EvW) y de la Sensibilidad a fármacos (MDR1 /ABCB1). La PRCD es un tipo de atrofia de retina que afecta perros de diferentes razas a partir de los 3 – 5 años, causada por una puntual G>A en el exón 1 del gen PRCD. En este trabajo la frecuencia encontrada del alelo que ocasiona la enfermedad en Caniche Toy fue de 0,2 y la frecuencia encontrada en la población analizada de Labradores Retriever fue de 0,06. La EvW está determinada po...
Genética forense no-humana, 2015
Forensic Sciences Research, 2021
Giovambatista (2021): An inter-laboratory study of DNA-based identity, parentage and species test... more Giovambatista (2021): An inter-laboratory study of DNA-based identity, parentage and species testing in animal forensic genetics, Forensic Sciences Research,
Reproduction in domestic animals = Zuchthygiene, 2020
Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observ... more Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observed. Although the number of twins has consistently increased, triplet and quadruplet pregnancies represent 0.015 and 0.004% of the total births, respectively. Multiple births are the result of multiple ovulation and/or the spontaneous cleavage of one fertilized oocyte, which is known as monozygotic (MZ) twinning. In cattle, approximately 5 to 14% of all twin births are MZ, and births with more than two MZ calves are extremely rare. Monozygotic animals are genetically identical, and those derived from two or more zygotes are genetically different. Furthermore, the presence of placental vascular anastomosis can result in fetal chimerism. Notwithstanding, animals born as single calves can be chimeras when one of the fetal twins dies undetected in utero. Here we used DNA testing to study the zygotic condition of an unusual female quadruplet born from a Braford cow bred in a multi-sire natural...
Veterinary and Comparative Orthopaedics and Traumatology, 2020
Objective The aim of this study was to investigate the prevalence of cranial cruciate ligament ru... more Objective The aim of this study was to investigate the prevalence of cranial cruciate ligament rupture and patellar luxation and the associated risk factors in dogs. Materials and Methods A total of 13,072 clinical records of dogs were reviewed from School Hospital (Faculty of Veterinary Sciences, National University of La Plata). Data of age, breed, sex, body weight, patellar luxation and cranial cruciate ligament rupture condition were registered. Chi-squared and Fisher's exact tests were used to compare the prevalence of cranial cruciate ligament rupture and patellar luxation with the variables and then univariable logistic regression was used to evaluate the risk of having cranial cruciate ligament rupture and patellar luxation. Multivariable logistic regression was used including all variables to assess the odds of having patellar luxation and cranial cruciate ligament rupture. Results Of 13,072 patients treated, 72 and 51 had cranial cruciate ligament rupture and patellar ...
Analecta Veterinaria, 2018
El gen ABCB1 codifica para la glicoproteína P (Pgp), una proteína de membrana que transporta múlt... more El gen ABCB1 codifica para la glicoproteína P (Pgp), una proteína de membrana que transporta múltiples fármacos fuera de la célula. Este gen se expresa principalmente en la barrera hematoencefálica, cumpliendo también importantes funciones en otros órganos. En caninos, se ha informado una deleción de 4 pb en el exón 4, que genera una terminación prematura y una proteína no funcional. Los animales homocigotos para la mutación presentan neurotoxicidad al administrarles drogas como las avermectinas. Esta mutación ha sido comunicada principalmente en collie, border collie y otras razas de perros pastores. El objetivo del trabajo consistió en desarrollar un método de diagnóstico rápido de la mutación nt230 [del4] del gen ABCB1 basado en pirosecuenciación y validarla en una población local. Se analizaron 72 perros mediante pirosecuenciación y secuenciación directa. Los resultados obtenidos con ambas técnicas evidenciaron 100 % de concordancia. El cálculo de la frecuencia génica del alelo ...
Legal Medicine, 2016
Dog fecal samples were collected at the crime scene and from the shoes of the suspect to see whet... more Dog fecal samples were collected at the crime scene and from the shoes of the suspect to see whether they could be linked. DNA was genotyped using a 145 bp fragment containing a 60 bp hotspot region of the mitochondrial DNA (mtDNA) control region. Once the species origin was identified, sequences were aligned with the 23 canine haplotypes defined, showing that evidence and reference had 100% identity with haplotype 5. The frequency of haplotype 5 and the exclusion power of the reference population were 0.056 and 0.89, respectively. The forensic index showed that it was 20 times more likely that the evidence belonged to the reference dog than to some other unknown animal. The results support that the mtDNA hypervariable region 1 (HV1) is a good alternative for typing in trace or degraded casework samples when the STR panel fails, and demonstrate the utility of domestic animal samples to give additional information to solve human legal cases.
The Japanese Journal of Veterinary Dermatology, 2013
Juvenile generalized demodicosis (JGD) is a common condition in dogs, and is associated with gene... more Juvenile generalized demodicosis (JGD) is a common condition in dogs, and is associated with genetic and immunological factors. It is not a contagious or zoonotic disease, however, it is a serious disease, being potentially dangerous to affected animal´s lives. JGD affects most breeds of dog, though the predisposition of certain breeds has been noted. In this study, we analyzed 499 records of the Small Animal Hospital (Faculty of Veterinarian Sciences, National University of La Plata, Argentina) covering the period 1998-2006. In all cases, the dogs tested were primarily considered have had some type of dermatological disease, and among them 28 cases were eventually diagnosed as demodectic mange. Twenty-eight out of 499 cases found juvenile generalized demodicosis. Coincident with the data reported by other research, this study evidenced that certain breeds, such as Boxer, German Shepherd and mixed breed dogs had a higher prevalence of JGD. These results support the hypothesis that certain breeds of dogs have a greater predisposition to JGD.
Veterinary Immunology and Immunopathology, 2013
Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occu... more Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occurs in German shepherd dogs (GSDs). Several studies support the hypothesis that CSK is an immune-mediated disease. To investigate the genetic factors associated with CSK development, the upstream regulatory regions (URRs) of the DLA-DRB,-DQA and-DQB genes were genotyped in 60 dogs, including 32 CSK animals. LD analysis identified two blocks (r 2 ≤ 45), with two DLA-DRB1 and five DLA-DQB1 haplotypes. Analysis of DLA-URR alleles/haplotypes showed a significant association between DQB1*-154 [C/T] (p = 0.016) and CSK, suggesting that the T variant may increase the risk for developing CSK disease (OR = 3, 95% CI = 1.25-7.68). When haplotype associations were performed, the URR-DQB*CATT haplotype was significantly associated with CSK (p = 0.016), increasing the risk of develop this disease over twofold (OR = 3, 95%, CI = 1.25-7.68). These results showed that dogs homozygous at DRB1*69 [C/T] had a risk for developing CSK disease that was over four times the risk for heterozygotes. This genetic association supports the previous clinical, histological and pharmacological studies that suggest that CSK is an immune-mediated disease, and this association could potentially be used to identify susceptible animals.
Trabajo publicado en La calidad en la produccion y los servicios: promotora del desarrollo y la i... more Trabajo publicado en La calidad en la produccion y los servicios: promotora del desarrollo y la innovacion. Buenos Aires: IRAM, 2017.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc, 2018
von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in D... more von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G>A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argentina. We found a 0.41 frequency for the mutated allele, which varied significantly within families (family 1 = 0.43, family 2 = 0.58, unrelated animals = 0.35). The use of a popular founder male carrier of mutant allele A increased vWD incidence within a family and in the general population. The mode of inheritance was confirmed as autosomal dominant with incomplete penetrance. No differences were found between sexes and coat colors. Pyrosequencing was a good complement to clinical and coagulation tests for vWD type 1 diagnosis and a useful alternative for detecting the c.7437G>A mutation.
Veterinary Immunology and Immunopathology, 2013
Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occu... more Canine chronic superficial keratitis (CSK) is an inflammatory corneal disease that primarily occurs in German shepherd dogs (GSDs). Several studies support the hypothesis that CSK is an immune-mediated disease. To investigate the genetic factors associated with CSK development, the upstream regulatory regions (URRs) of the DLA-DRB, -DQA and -DQB genes were genotyped in 60 dogs, including 32 CSK animals. LD analysis identified two blocks (r(2)≤45), with two DLA-DRB1 and five DLA-DQB1 haplotypes. Analysis of DLA-URR alleles/haplotypes showed a significant association between DQB1*-154 [C/T] (p=0.016) and CSK, suggesting that the T variant may increase the risk for developing CSK disease (OR=3, 95% CI=1.25-7.68). When haplotype associations were performed, the URR-DQB*CATT haplotype was significantly associated with CSK (p=0.016), increasing the risk of develop this disease over two-fold (OR=3, 95%, CI=1.25-7.68). These results showed that dogs homozygous at DRB1*69 [C/T] had a risk for developing CSK disease that was over four times the risk for heterozygotes. This genetic association supports the previous clinical, histological and pharmacological studies that suggest that CSK is an immune-mediated disease, and this association could potentially be used to identify susceptible animals.