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RD Jolly JJ Hopwood NR Marshall KS Jenkins DJ Thompson KE Dittmer 《New Zealand veterinary journal》2013,61(3):183-188
Abstract AIM: To investigate and characterise an inborn error of metabolism in a dog with skeletal and ocular abnormalities. METHODS: A 2.5-year-old small male Miniature Poodle-like dog was presented with gross joint laxity and bilateral corneal opacities. Clinical examination was augmented by routine haematology, serum chemistry, radiographs, pathology, enzymology and molecular genetic studies. Euthanasia was requested when the dog was 3 years of age because of progressively decreasing quality of life. RESULTS: Radiology revealed generalised epiphyseal dysplasia, malformed vertebral bodies, luxation/subluxation of appendicular and lumbosacral joints with hypoplasia of the odontoid process and hyoid apparatus. These clinical and radiographic findings, together with a positive urinary Berry spot test for mucopolysaccharides, and metachromatic granules in leucocytes, were indicative of a mucopolysaccharidosis (MPS), a lysosomal storage disease. Histological lesions included vacuolation of stromal cells of the cornea, fibroblasts, chondrocytes, macrophages and renal cells. The brain was essentially normal except for moderate secondary Wallerian-type degeneration in motor and sensory tracts of the hind brain. Dermatan sulphate-uria was present and enzymology revealed negligible activity of N-acetylgalactosamine-4-sulphatase, also known as arylsulphatase B, in cultured fibroblasts and liver tissue. A novel homozygous 22 base pair (bp) deletion in exon 1 of this enzyme's gene was identified (c.103_124del), which caused aframe-shift and subsequent premature stop codon. The “Wisdom pure breed-mixed breed” test reported the dog as a cross between a Miniature and Toy Poodle. CONCLUSIONS: The clinicopathological features are similar to those of MPS type VI as previously described in dogs, cats and other species, and this clinical diagnosis was confirmed by enzymology and molecular genetic studies. This is an autosomal recessively inherited lysosomal storage disease. CLINICAL RELEVANCE: The prevalence of MPS VI in Miniature or Toy Poodles in New Zealand and elsewhere is currently unknown. Due to the congenital nature of the disorder, malformed pups may be subject to euthanasia without investigation and the potential genetic problem in the breed may not be fully recognised. The establishment of a molecular genetic test now permits screening for this mutation as a basis to an informed breeding policy. 相似文献
35.
Environmental divergence along hierarchically structured longitudinal gradients may constitute barriers to gene flow in river networks for headwater specialised species. While known, this phenomenon has not been well studied, especially with regard to degree of headwater specialisation. We examined six headwater species that differ in habitat specialisation to assess whether patterns of differentiation vary according to geographic or environmental distance. We also identified regional environmental or anthropogenically induced fragmentation effects by comparing within‐drainage patterns of genetic distance across replicate watersheds. We used a comparative modelling framework to determine whether isolation by distance or isolation by resistance of large river habitats was a better predictor of genetic distance across species. The influence of reservoir presence and regional network characteristics that may influence the hydrology and size of large river habitats were also assessed. Resistance effects from large rivers were closely related to headwater specialisation, with increased specialisation leading to increased resistance and loss of drainagewide population connectivity. These results affirm that dendritic networks naturally fragment headwater specialised species. Further isolation from anthropogenic fragmentation was detected in two of the six drainages, indicating interactions with system‐specific conditions. Landscape variables related to the hydrology of large rivers also affected genetic distance in predicted ways, supporting the importance of large rivers in genetically structuring headwater species in drainage networks. 相似文献
36.
BA Schotanus J de Gier JJ van der Lugt AC Okkens 《Reproduction in domestic animals》2008,43(2):176-180
Purulent vaginal discharge in a bitch in which ovariohysterectomy has been performed is often caused by inflammation of the uterine stump. The inflammation is due to either cystic endometrial hyperplasia (CEH) induced primarily by progesterone from remnant ovarian tissue or exogenous progestagens, or it is due to the presence of unabsorbed suture material. This report describes a 9-year-old Irish setter with hemopurulent vaginal discharge and non-pruritic symmetrical alopecia, which had undergone ovariohysterectomy 3.5 years ago and which had been treated with estriolum daily for the past 2.5 years because of urinary incontinence. Vaginoscopy revealed hemopurulent discharge throughout the vagina and vestibule. Cytological examination of ultrasound-guided fine-needle aspiration biopsies of a large mass in the hypogastricum, which appeared to be the uterine cervical stump, revealed septic purulent inflammation. The concentration of plasma progesterone was low and the concentration of plasma 17-ß oestradiol did not increase after gonadotrophin-releasing hormone administration. No remnant ovarian tissue was found by abdominal ultrasonography, laparotomy, or histological examination of mesovarian pedicles. Laparotomy revealed uterine stump empyema. Histological examination of the surgically removed mass excluded both CEH and unabsorbed suture material as the cause of the stump empyema. Instead, it is hypothesized that the long-term treatment with estriolum was a causative factor. This suggests that bitches treated with estriolum should be examined regularly. 相似文献
37.
The prevailing paradigm is that immunosuppressed individuals are more susceptible to infection and are at higher risk of infection from Cryptosporidium oocysts if present in drinking water. To test this hypothesis, three immune conditions were examined: genetically immunocompromised T cell deficient CD-1 nude mice, B and T cell deficient Fox Chase CB-17/IcrClB SCID mice, and chemically immunosuppressed C57Bl/6 mice. Chemical immunosuppression was induced with a single subcutaneous injection of methylprednisolone acetate (MPA) at 600 mg/kg. The MPA immunosuppressed C57Bl/6 mice were characterized by a sustained decrease in circulating CD3, CD4 and CD8 T-lymphocytes of greater than 80% and a similar decrease in B-lymphocytes. A sharp rise in circulating mature segmented neutrophils followed MPA injection, dropping sharply after 10-14 days, mirroring the decrease in lymphocytes. The cessation of oocyst production after MPA was not accompanied by a radical rise in circulating CD3 or CD4 T-lymphocytes, but rather a rise in CD8 T-lymphocytes. The ID50 for the MPA immunosuppressed C57Bl/6 mice was 122 oocysts, whereas the ID50 for the C57Bl/6 immunocompetent group was 44. The genetically immunocompromised mice showed similar differences. The ID50 for CD-1 nude mice was 166 oocysts compared to 64 in CD-1 immunocompetent mice. For Fox Chase CB-17/IcrClB SCID and the immunocompetent CB-17 mice, the ID50's were 83 and 60 oocysts, respectively. These results suggest that the lack of an immune response does not increase the ability of C. muris to establish a productive infection and produce oocysts. 相似文献
38.
At different times after inoculation with Cryptosporidium muris, infected CF-1 female mice were immunosuppressed with a single subcutaneous dose of methylprednisolone acetate (MPA; 600 mg/kg). MPA immunosuppression decreases circulating CD3, CD4 and CD8 T-lymphocytes and B-lymphocytes by greater than 90% for approximately 14 days with numbers not returning to pre-suppression levels until after 41 days post-suppression. Immunosuppression was initiated at selected times before, during, and after oocyst production. Immunosuppression initiated prior to oocyst production delayed the start of production by 4-5 days and extended oocyst shedding by 16 days. Initiation of immunosuppression during oocyst production both extended oocyst shedding and greatly increased the number of oocysts shed per day over most of the extended shedding period. Immunosuppression during the decline of oocyst production resulted in only a moderate extension of shedding and a moderate increase in oocyst numbers. Immunosuppression initiated soon after oocyst shedding had ceased resulted in the re-initiation of limited oocyst production for only a few days. Suppression initiated on days 40 and 46 post-infection, 11 and 17 days after oocysts could no longer be detected in the feces, did not result in a resumption of oocyst production. In all cases, where oocyst production was extended or reinitiated, the shedding of oocysts halted between days 45 and 53 post-oocyst inoculation. These studies demonstrate that the effect of MPA immunosuppression depends on the immunologic conditions existing in the host at the time immunosuppression was initiated. Immunosuppression initiated during oocyst production allows an overwhelming parasitism to exist, implying that T- and B-lymphocytes play an important role in moving the host immune process along during this period of the infection. Conversely, severe suppression of T- and B-lymphocytes initiated as oocyst production is decreasing does not result in a complete relapse of the disease suggesting that T- and B-lymphocytes are not critical to the continuation of the immune process after this point. These studies also show that the C. muris infection persists beyond the end of the detection of oocysts in the feces. 相似文献
39.
The dynamics of dangling bond (DB) diffusion was studied after deuterium desorption from the silicon (100)-2x1 surface. At elevated temperatures, paired DB sites produced after desorption unpaired as deuterium atoms hopped from adjacent dimers. Below 620 kelvin, the unpaired configuration most commonly observed corresponded to two DBs on adjacent silicon dimers. At higher temperatures, unpaired DBs executed one-dimensional walks along the dimer rows, and recombination was observed with the same partner after walks lasting many minutes. The frequency and extent of these excursions increased with temperature. Above 660 kelvin, complete dissociation was observed and was sometimes followed by recombination by means of partner exchange. The implications for low-temperature materials growth are discussed. 相似文献
40.
TB Mitchell JJ Bollinger DHE Dubin X Huang WM Itano RH Baughman 《Science (New York, N.Y.)》1998,282(5392):1290-1293
Laser-cooled 9Be+ ions confined in two-dimensionally extended lattice planes were directly observed, and the images were used to characterize the structural phases of the ions. Five different stable crystalline phases were observed, and the energetically favored structure could be sensitively tuned by changing the areal density of the confined ions. The experimental results are in good agreement with theoretical predictions for the planar (infinite in two dimensions) one-component plasma. Qualitatively similar structural phase transitions occur, or are predicted to occur, in other experimentally realizable planar systems. 相似文献