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Analysis of 8 Sarcomeric Candidate Genes for Feline Hypertrophic Cardiomyopathy Mutations in Cats with Hypertrophic Cardiomyopathy 总被引:1,自引:0,他引:1
K.M. Meurs M.M. Norgard M. Kuan J. Haggstrom M. Kittleson 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2009,23(4):840-843
Background: Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats. Causative mutations have been identified in the Maine Coon (MC) and Ragdoll breed in the cardiac myosin binding protein C gene (MYBPC3). HCM is thought to be inherited in other breeds.
Hypothesis: That a causative mutation for HCM in the British Shorthair (BSH), Norwegian Forest (NWF), Siberian, Sphynx, or MC cats would be identified in the exonic and splice site regions of 1 of 8 genes associated with human familial HCM.
Animals: Three affected BSH, NWF, Siberians, Sphynx, 2 MC (without the known MC mutation), and 2 Domestic Shorthair cats (controls) were studied.
Methods: Prospective, observational study. Exonic and splice site regions of the genes encoding the proteins cardiac troponin I, troponin T, MYBPC3, cardiac essential myosin light chain, cardiac regulatory myosin light chain, α tropomyosin, actin, and β–myosin heavy chain were sequenced. Sequences were compared for nucleotide changes between affected cats, the published DNA sequences, and control cats. Changes were considered to be causative for HCM if they involved a conserved amino acid and changed the amino acid to a different polarity, acid-base status, or structure.
Results: A causative mutation for HCM was not identified, although several single nucleotide polymorphisms were detected.
Conclusions and Clinical Importance: Mutations within these cardiac genes do not appear to be the only cause of HCM in these breeds. Evaluation of additional cardiac genes is warranted to identify additional molecular causes of this feline cardiac disease. 相似文献
Hypothesis: That a causative mutation for HCM in the British Shorthair (BSH), Norwegian Forest (NWF), Siberian, Sphynx, or MC cats would be identified in the exonic and splice site regions of 1 of 8 genes associated with human familial HCM.
Animals: Three affected BSH, NWF, Siberians, Sphynx, 2 MC (without the known MC mutation), and 2 Domestic Shorthair cats (controls) were studied.
Methods: Prospective, observational study. Exonic and splice site regions of the genes encoding the proteins cardiac troponin I, troponin T, MYBPC3, cardiac essential myosin light chain, cardiac regulatory myosin light chain, α tropomyosin, actin, and β–myosin heavy chain were sequenced. Sequences were compared for nucleotide changes between affected cats, the published DNA sequences, and control cats. Changes were considered to be causative for HCM if they involved a conserved amino acid and changed the amino acid to a different polarity, acid-base status, or structure.
Results: A causative mutation for HCM was not identified, although several single nucleotide polymorphisms were detected.
Conclusions and Clinical Importance: Mutations within these cardiac genes do not appear to be the only cause of HCM in these breeds. Evaluation of additional cardiac genes is warranted to identify additional molecular causes of this feline cardiac disease. 相似文献
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肥厚型心肌病是猫最常见的原发性心脏疾病,典型特征为心脏左心室肥厚。心肌纤维化是猫肥厚型心肌病的标志性病理变化,其可导致心脏功能障碍和节律异常,是心肌病患猫预后不良的重要因素。对于猫肥厚型心肌病与心肌纤维化,目前缺乏针对性治疗,新型治疗方法亟需开发。本综述总结了猫肥厚型心肌病的病理特征以及目前关于猫心肌纤维化发病机制的研究进展,拟通过探索心肌纤维化的发病机制,从而为猫肥厚型心肌病新型治疗药物的开发寻找突破点。 相似文献
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Hypertrophic cardiomyopathy is a primary myocardial disease with a wide range of clinical and morphologic characteristics. It is characterized by increased cardiac mass associated with a non-dilated, hypertrophied left ventricle. Phenotypic variability is substantial and includes both diffuse and segmental forms of left ventricular hypertrophy. Histopathologic features consist of myofiber disorganization, intramural arteriosclerosis, and pathologic fibrosis and matrix connective tissue. Associated functional derangements include dynamic obstruction to left and right ventricular outflow and diastolic dysfunction, including heart failure. 相似文献
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动物肥厚性心肌病的临床所见、心脏超声波图、肉眼组织病理、冠状小动脉变化、胶原纤维组织变化等 ,与人类肥厚性心肌病非常相似 ;遗传学分析 ,人类及猫肥厚性心肌病均为家族性常染色体显性遗传类型。动物肥厚性心肌病可为理想模型来研究人类疾病 ,而且动物肥厚性心肌病小冠状动脉病变与人类冠状动脉粥样化血管切除或皮下血管内腔扩张术后小冠状动脉再阻塞相同 ,可为人类疾病之模型。尤其猪心脏血行、生理及形态均与人类心脏相似 ,故猪肥厚性心肌病实为人类肥厚性心肌病研究之理想动物模型。 相似文献
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R. Langhorn I.N. Kieler J. Koch L.R. Jessen 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):57-63
Background
Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species.Hypothesis
Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM), independently of CKD, are associated with changes in serum SDMA.Animals
Ninety‐four cats (17 with CKD, 40 with HCM, 17 with DM, and 20 healthy controls).Methods
Case‐control study. Clinical examination, echocardiography, ECG, blood pressure, CBC, biochemistry, thyroxine, and SDMA measurement were performed. Urinalysis was performed in controls and cats with CKD and DM. Analysis of variance was used to compare overall differences in the log‐transformed SDMA data among groups. A random forest algorithm was applied to explore which clinical and other factors influenced serum SDMA.Results
Median (range) serum SDMA for the renal group (positive control) was 19 (10–93) μg/dL, whereas for the control group (negative control), it was 10 (5–15) μg/dL. For the cardiac and diabetic groups, serum SDMA was 9 (4–24) μg/dL and 7 (3–11) μg/dL, respectively. The renal group had significantly higher SDMA concentrations and the diabetic group significantly lower SDMA concentrations compared to all other groups.Conclusions and Clinical Importance
Serum SDMA concentrations in cats with HCM were not significantly different from those of healthy control cats. Cats with DM, however, had significantly lower SDMA concentrations than controls, a finding that needs further investigation and should be kept in mind when evaluating renal function of cats with this endocrinopathy. 相似文献11.
G. Wess J. Mäurer J. Simak K. Hartmann 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2010,24(5):1069-1076
Background: M‐mode is the echocardiographic gold standard to diagnose dilated cardiomyopathy (DCM) in dogs, whereas Simpson's method of discs (SMOD) is the preferred method to detect echocardiographic evidence of disease in humans. Objectives: To establish reference values for SMOD and to compare those with M‐mode measurements. Animals: Nine hundred and sixty‐nine examinations of 471 Doberman Pinschers. Methods: Using a prospective longitudinal study design. Reference values for SMOD were established using 75 healthy Doberman Pinschers >8 years old with <50 ventricular premature contractions (VPCs) in 24 hours. The ability of the new SMOD cut‐off values, normalized to body surface area (BSA), for left ventricular end‐diastolic volume (LVEDV/BSA >95 mL/m2) and end‐systolic volume (LVESV/BSA > 55 mL/m2) to detect echocardiographic changes in Doberman Pinschers with DCM was compared with currently recommended M‐mode values. Dogs with elevated SMOD values but normal M‐mode measurements were followed‐up using a prospective longitudinal study design. Results: At the final examination 175 dogs were diagnosed with DCM according to both methods (M‐mode and SMOD). At previous examinations, M‐mode values were abnormal in 142 examinations only, whereas all 175 SMOD already had detected changes. Additionally, 19 of 154 dogs with >100 VPCs/24 hours and normal M‐mode values had abnormal SMOD measurement. Six dogs with increased SMOD measurements remained healthy at several follow‐up examinations (classified as false positive); in 24 dogs with increased SMOD measurements, no follow‐up examinations were available (classified as unclear). Conclusions and Clinical Importance: SMOD measurements are superior to M‐mode to detect early echocardiographic changes in Dobermans with occult DCM. 相似文献
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K. Borgeat K. Sherwood J.R. Payne V. Luis Fuentes D.J. Connolly 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2014,28(6):1731-1737