Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene          下载免费PDF全文

P. Wang  P.S. Henthorn  E. Galban  G. Lin  T. Takedai  M. Casal 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):340-347

Background

GM2‐gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β‐hexosaminidase A (Hex‐A) and β‐hexosaminidase B (Hex‐B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency.

Objectives

To characterize the phenotype and genotype of GM2‐gangliosidosis disease in an affected dog.

Animals

One affected Shiba Inu and a clinically healthy dog.

Methods

Clinical and neurologic evaluation, brain magnetic resonance imaging (MRI), assays of lysosomal enzyme activities, and sequencing of all coding regions of HEXA, HEXB, and GM2A genes.

Results

A 14‐month‐old, female Shiba Inu presented with clinical signs resembling GM2‐gangliosidosis in humans and GM1‐gangliosidosis in the Shiba Inu. Magnetic resonance imaging (MRI) of the dog's brain indicated neurodegenerative disease, and evaluation of cerebrospinal fluid (CSF) identified storage granules in leukocytes. Lysosomal enzyme assays of plasma and leukocytes showed deficiencies of Hex‐A and Hex‐B activities in both tissues. Genetic analysis identified a homozygous, 3‐base pair deletion in the HEXB gene (c.618‐620delCCT).

Conclusions and Clinical Importance

Clinical, biochemical, and molecular features are characterized in a Shiba Inu with GM2‐gangliosidosis. The deletion of 3 adjacent base pairs in HEXB predicts the loss of a leucine residue at amino acid position 207 (p.Leu207del) supporting the hypothesis that GM2‐gangliosidosis seen in this dog is the Sandhoff type. Because GM1‐gangliosidosis also exists in this breed with almost identical clinical signs, genetic testing for both GM1‐ and GM2‐gangliosidosis should be considered to make a definitive diagnosis.  相似文献   

Dynamics of porcine circovirus type 2 infection in a herd of pigs with postweaning multisystemic wasting syndrome   总被引：6，自引：0，他引：6  

Rodríguez-Arrioja GM  Segalés J  Calsamiglia M  Resendes AR  Balasch M  Plana-Duran J  Casal J  Domingo M 《American journal of veterinary research》2002,63(3):354-357

OBJECTIVE: To determine the pattern of infection for porcine circovirus type 2 (PCV2) in a herd of pigs with postweaning multisystemic wasting syndrome (PMWS). ANIMALS: 29 sows and 250 pigs. PROCEDURE: Blood samples were collected from all 3-, 7-, and 12-week old pigs and 59 pigs at 28 weeks of age. Pigs that died during the study were necropsied. Porcine parvovirus and PCV2 antibodies were assayed. A polymerase chain reaction (PCR) was used to detect PCV2 genome in serum of selected pigs. RESULTS: The PMWS started when pigs were 8 weeks old, with a prevalence of 30% in 8- to 10-week-old pigs. Eighty-three pigs died during the period between 3 and 12 weeks of age. Microscopic lesions consistent with PMWS were observed, and PCV2 nucleic acid was detected (50 of 68 pigs). Antibodies to PCV2 decreased from 3 to 7 weeks of age, increased at 12 weeks of age, and were maintained until 28 weeks of age. One sow had a positive result for PCR of serum. Nine, 37 and 8 pigs had PCV2 genome in serum obtained at 7, 12, and 28 weeks of age, respectively. CONCLUSIONS AND CLINICAL RELEVANCE: Infection with PCV2 coincided with severe clinical signs; however, infected 28-week-old pigs did not have evidence of disease. Immunity declined over time in young pigs. A long duration of PCV2 viremia was apparent in a high percentage of infected pigs, which may affect transmission and persistence of the virus in a herd.  相似文献   

Stress and Parturition in the Pig*     

AB Lawrence  KA McLean  S Jarvis  CL Gilbert  JC Petherick 《Reproduction in domestic animals》1997,32(5):231-236

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Periconceptional undernutrition modifies endocrine profiles and hepatic gene expression in sheep          下载免费PDF全文

V. de Brun  A. Meikle  A. Casal  M. Sequeira  I. Contreras‐Solís  M. Carriquiry  F. Forcada  C. Sosa  J.A. Abecia 《Journal of animal physiology and animal nutrition》2015,99(4):710-718

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The Effect of Season on Spermatozoa Motility,Plasma Membrane and Acrosome Integrity in Fresh and Frozen–Thawed Semen from Xinong Saanen Bucks          下载免费PDF全文

W Wang  J Luo  S Sun  L Xi  Q Gao  AB Haile  H Shi  W Zhang  H Shi 《Reproduction in domestic animals》2015,50(1):23-28

The aim of this study was to evaluate whether the season of ejaculate collection influences seminal quality parameters of pre‐ and post‐freeze–thawing in Xinong Saanen bucks. Ejaculates were collected from eight bucks throughout the four seasons (spring, summer, autumn and winter) in a 12 months’ time period, identified in the Northern Hemisphere. Semen samples were evaluated by the combinations of conventional and Computer‐Assisted Sperm Analysis (CASA) when fresh and after frozen–thawed, respectively. The results clearly demonstrated that season of ejaculate collection influenced (p < 0.05) fresh semen quality. Highest semen quality was observed during autumn. On the contrary, undesirable indices (significantly lower, p < 0.05) were observed in winter as compared with the other remaining seasons. CASA has clearly shown the influences of seasonal variations on semen motility parameters. Furthermore, season of ejaculate collection was also found to influence sperm freezability. Semen characteristics after frozen–thawed followed a similar pattern with that of fresh ejaculate except in spring. The results revealed that sperm quality was higher (p < 0.01) in summer and autumn than in spring and winter. In conclusion, seasonal variation influences semen quality in Xinong Saanen bucks. In addition to summer and autumn, fresh ejaculates in spring can also be successfully used for AI. Sperm from ejaculates collected during summer and autumn are more suitable for cryopreservation. Hence, it is possible to increase the efficiency of goat breeding by manipulating the seasonal variations of semen quality for immediate AI and/or cryopreservation.  相似文献   

Evaluation of single and comparative intradermal tuberculin tests for tuberculosis eradication in caprine flocks in Castilla y León (Spain)     

Javier Bezos  Sergio Marqués  Julio Álvarez  Carmen Casal  Beatriz Romero  Ana Grau  Olga Mínguez  Lucas Domínguez  Lucía de Juan 《Research in veterinary science》2014

Goats can act as reservoirs for tuberculosis (TB) infection. The main etiological agents of TB in goats are Mycobacterium caprae and Mycobacterium bovis and they infect also a wide range of domestic and wild animals and humans. Control programmes based mainly on the application of single and comparative intradermal tuberculin (SIT and SCIT respectively) tests are being implemented in certain regions of Spain with a high density of caprine flocks as Castilla y León, including goats with epidemiological relationship with cattle. The aim of this study was to evaluate the performance of the intradermal tests in naturally TB-infected caprine flocks from this region. The study was performed using data from 17,450 goats in 54 different flocks that were classified as TB-infected in the control programmes executed in 2010 and 2011. Data from 1237 goats from 7 dairy flocks depopulated after the first intradermal testing were used to estimate the sensitivity (Se) using bacteriology as the gold-standard. Overall Se of the SIT test using the severe interpretation was 43.9% (CI 95%, 40.4–47.4) and decreased to 38.8% (CI 95%, 35.5–42.3) using the standard interpretation. Overall Se of the SCIT test ranged between 21.3% (CI 95%, 17.6–25.4) and 7% (CI 95%, 4.9–9.8) depending of the interpretation criteria. A significant weak positive correlation was found between age and skin fold thickness (Spearman’s test p < 0.05). Results from this study yielded, in general, low Se values probably due the systematic detection and slaughter of reactors as a consequence of the eradication programme in previous years or the presence of factors that may interfere in the diagnosis. Therefore, these results suggest the necessity of including ancillary diagnostic tools and/or strict interpretation criteria to maximize detection of positive animals in infected settings.  相似文献   

Descriptive epidemiology of the outbreak of classical swine fever in Catalonia (Spain), 2001/02     

Allepuz A  Casal J  Pujols J  Jové R  Selga I  Porcar J  Domingo M 《The Veterinary record》2007,160(12):398-403

Spain suffered an outbreak of classical swine fever between June 14, 2001 and May 7, 2002, which affected 49 herds; this paper describes the epidemiological characteristics of the 39 herds that were affected in Catalonia, an area of high pig density in the north east of Spain. The outbreak took place in two waves, which affected first the province of Lleida and then Barcelona. A total of 291,058 animals were slaughtered, 59,595 belonging to infected herds; 22 of the infected herds were detected on the basis of clinical suspicion on the part of the farmer or farm veterinarian, and the other 17 were detected by surveillance methods. The transmission of the virus between herds was attributed to the movement of people in 23 per cent of the cases, to animals in 13 per cent, vehicles in 10 per cent, proximity 18 per cent, the pick-up service of the rendering plant in 8 per cent and slurry in 5 per cent; in the other nine herds (23 per cent) the route of entry of the disease could not be established. The viruses isolated in the two waves of the outbreak were 100 per cent homologous and belonged to subgroup 2.3. The origin of the outbreak remains unknown.  相似文献   

Free amino acid composition of quince (Cydonia oblonga Miller) fruit (pulp and peel) and jam   总被引：2，自引：0，他引：2  

Silva BM  Casal S  Andrade PB  Seabra RM  Oliveira MB  Ferreira MA 《Journal of agricultural and food chemistry》2004,52(5):1201-1206

Twenty-one free amino acids present in several samples of quince fruit (pulp and peel) and quince jam (homemade and industrially manufactured) were analyzed by GC/FID. The analyses showed some differences between quince pulps and peels. Generally, the highest content in total free amino acids and in glycine was found in peels. As a general rule, the three major free amino acids detected in pulps were aspartic acid, asparagine, and hydroxyproline. For quince peels, usually, the three most abundant amino acids were glycine, aspartic acid, and asparagine. Similarly, for quince jams the most important free amino acids were aspartic acid, asparagine, and glycine or hydroxyproline. This study suggests that the free amino acid analysis can be useful for the evaluation of quince jam authenticity. It seems that glycine percentage can be used for the detection of quince peel addition while high alanine content can be related to pear addition.  相似文献   

Urinary incontinence in spayed female dogs: frequency and breed disposition     

S Arnold  P Arnold  M Hubler  M Casal  P Rüsch 《Schweizer Archiv für Tierheilkunde》1989,131(5):259-263

A follow up study was performed in 412 spayed bitches in order to determine the incidence of urinary incontinence. The period between the operation being performed and the survey being made varied between 3 and 10 years. 83 animals (20.1%) were incontinent independent of the surgical procedure (ovariectomy versus ovariohysterectomy). The onset of incontinence varied between immediately to 12 years with an average period of 2.9 years after surgery. 57 of these incontinent bitches were treated with ephedrine or estrogen. In 73.7% a good response was achieved with ephedrine and a further 23.7% showed some improvement. Generally ephedrine was more successful than estrogen in the treatment of incontinence. There appears to be a strong connection between body weight and the incidence of incontinence. Of bitches with a body weight of less than 20 kg only 9.3% were incontinent. Whereas in bitches with a body weight of more than 20 kg the incidence was 30.9%. Of the breeds Boxers showed a high incidence of incontinence (65%) while breeds such as German Shepherds (10.6%) or Dachshunds (11.1%) showed a low incidence in relation to the average incidence rate (20.1%).  相似文献   

Plasmid and restriction endonuclease patterns in Pasteurella multocida isolated from a swine pyramid.     

Xavier Rúbies  Jordi Casal  Carlos Pijoan 《Veterinary microbiology》2002,84(1-2):69-78

Restriction endonuclease analysis (REA) and plasmid profile were used to study the epidemiology of Pasteurella multocida in a swine pyramid structure. The studied pyramid was comprised of a group of 12 swine farrow-to-finish farms related by unidirectional animal movement. P. multocida isolates were obtained from the lungs of 275 slaughtered pigs. Serotyping was performed by hyaluronidase sensitivity test and toxicity was investigated by the ELISA test. HpaII was used to cleave the P. multocida extracted DNA. REA patterns relationships were studied using the Sokal-Michener coefficients, and the dendrogram was built using the UPGMA system. The 218 P. multocida isolates obtained were distributed in 17 REA patterns. In 9 of the 12 farms studied only 2-3 REA patterns were detected, with one clearly predominant pattern. The 81 strains with plasmids were assigned to six plasmid profiles. REA and plasmid profiles proved to be good epidemiological tools for identifying different strains of P. multocida with the same phenotype.  相似文献