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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103.
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Comparative,multidimensional imaging of patent ductus arteriosus and a proposed update to the morphology classification system for dogs 下载免费PDF全文
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UV‐light and dietary vitamin D and their effects on ionized calcium and 25‐OH‐D plasma concentrations in captive gentoo penguins (Pygoscelis papua) 下载免费PDF全文
Ursina Tröndle Hanspeter W. Steinmetz Simon R. Rüegg Anja Müller Annette Liesegang 《Journal of animal physiology and animal nutrition》2018,102(5):1419-1428
In this study, the effect of ultraviolet (UV) light and dietary vitamin D on calcium metabolism in permanently indoor‐housed gentoo penguins (Pygoscelis papua ) was investigated. The study consisted of three periods, each completed with blood samples to analyse plasma concentrations of 25‐OH‐D, 1,25‐(OH)2‐D, ionized (iCa) and total calcium (tCa). During the first study period (D), animals were housed under routine conditions without UV‐light and fed a diet of different fish species, supplemented with 1,000 IU vitamin D per animal and day. The following study period (Baseline) of 28‐day duration consisted of the same diet without any vitamin D supplementation and without UV‐light. During the study period (UVB) artificial UV‐light was added for 3 weeks. The vitamin D content of fish was measured by high‐performance liquid chromatography. It varied between fish species and between facilities, ranging from no measurable content in capelin (Mallotus villosus ) to 7,340 IU vitamin D/kg original matter (OM) in herring (Clupea spp). The average dietary vitamin D content was 311 IU/kg OM at facility 1 and 6,325 IU/kg OM at facility 2, resulting in a vitamin D intake per animal and day without supplementation of 130 IU (25.5 IU/kg body weight BW) and 2,454 IU (438.2 IU/kg BW) respectively. The supplementation of vitamin D elevated significantly the plasma concentrations of 25‐OH‐D by an intraindividual difference of 15 (range ?2 to 59) nmol/L and tCa by 0.1 (0.0–0.3) mmol/L only at facility 2. The exposure to UV‐light raised the blood concentrations of tCa at facility 2 by 0.15 (0.1–0.2) mmol/L, and of iCa and tCa for females at facility 1 by 0.23 (0.13–0.41) mmol/L and 1.8 (1.1–2.5) mmol/L respectively. No significant influence of the study periods (D) and (UVB) was found for the concentrations of 1,25‐(OH)2‐D at both facilities. 相似文献
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In 4 dairy farms located in Baotou area, clinical medicine investigation and drug resistance of pathogenic bacteria were conducted, and then curative effects of different treatment methods were analyzed.Epidemic materials were collected from diary cows infected by endometritis, from which pathogenic bacteria were isolated using conventional microbiology technologies.Broth microdilution method was used to detect the sensitivity and resistance of pathogenic bacteria to antibiotics commonly used in clinic.On this basis, the sensitive drugs were used to treat mastitis or endometritis, the clinical curative effect of traditional treatment group was compared with that of therapeutic test group.The result of traditional treatment group showed 13 antibiotics were used to treat 160 cases of endometritis, florfenicol was most effective, penicillin was most ineffective.The results of therapeutic test group showed that Staphylococcus aureus, Escherichia coli and Streptococcus were the main pathogenic bacteria of endometritis, which were sensitive to gentamicin and cefalotin, etc.The results of statistical analysis showed that the curative effect of therapeutic test group was extremely significantly different from that of traditional treatment group(P<0.01).Sensitive drugs screened by drug sensitive test could be used to target therapy, and obtain satisfied curative effect.Moreover, this approach could avoid antibiotic abuse. 相似文献
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