scholarly journals Genetic testing of canine degenerative myelopathy in the South African Boxer dog population

2013 ◽  
Vol 84 (1) ◽  
Author(s):  
Gareth E. Zeiler ◽  
Henriette Van der Zwan ◽  
Marinda C. Oosthuizen
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
South African ◽  
Cruciate Ligament ◽  
Local Population ◽  
Clinical Signs ◽  
Disease Process ◽  
Diagnostic Methods ◽  
Degenerative Myelopathy ◽  
Boxer Dogs

Canine degenerative myelopathy (DM) is a progressive disease process that is diagnosed late in life and mainly affects the pelvic limbs. Factors that make an ante-mortem definitive diagnosis of DM include: an insidious onset and clinical manifestation that mimics other disease processes of the pelvic limbs (hip dysplasia, cranial cruciate ligament rupture, etc.) or there may even be concurrent disease processes, old-age onset and lack of reliable diagnostic methods. Until recently, South African dog owners had to submit samples to laboratories overseas for genetic testing in order to confirm an affected dog (homozygous A/A) and to aid in the ante-mortem diagnosis of DM. Only affected dogs have been confirmed to manifest the clinical signs of DM. This study aimed to verify whether genetic testing by a local genetic laboratory was possible in order to detect a missense mutation of the superoxide dismutase gene (SOD1) that is implicated in causing the clinical signs of DM. The study also aimed to detect and map the inheritance of this disease process in a local Boxer dog population where the pedigree of the sampled population was known. Venous blood collected from Boxer dogs using a simple random sampling technique. The samples were genotyped for the SOD1:c.118G>A polymorphism. Carrier and affected Boxer dogs were detected. A pedigree that demonstrated the significance of inheriting a carrier or affected state in the population was mapped. The present study concludes that genotyping of the missense mutation in Boxer dogs is possible in South Africa. There are carrier and affected Boxer dogs in the local population, making DM a plausible diagnosis in aged dogs presenting with pelvic limb pathology.

Canine degenerative myelopathy

2020 ◽  
Vol 11 (5) ◽  
pp. 228-231
Author(s):  
Cheryl Corral
Keyword(s):  
Clinical Signs ◽  
Disease Process ◽  
Curative Treatment ◽  
Rehabilitation Protocol ◽  
Veterinary Surgeon ◽  
Degenerative Myelopathy

Canine degenerative myelopathy is a progressive, debilitating condition of older, often large breed dogs, and is seen on a fairly frequent basis in practice. This article discusses the background of the condition including clinical signs to be expected at different stages in the disease process, how the condition is diagnosed, and looks at how best the condition can be managed using rehabilitation therapies with no curative treatment currently available. It also includes a case study describing a rehabilitation protocol for a patient referred for rehabilitation by the referring veterinary surgeon following diagnosis of degenerative myelopathy.

scholarly journals Mycobacterium avium Subspecies paratuberculosis Infection in Zoo Animals: A Review of Susceptibility and Disease Process

2020 ◽  
Vol 7 ◽  
Author(s):  
Marco Roller ◽  
Sören Hansen ◽  
Tobias Knauf-Witzens ◽  
Walter M. R. Oelemann ◽  
Claus-Peter Czerny ◽  
...  
Keyword(s):  
Mycobacterium Avium ◽  
Animal Species ◽  
Mycobacterium Avium Subspecies Paratuberculosis ◽  
Case Reports ◽  
Clinical Signs ◽  
Disease Process ◽  
Diagnostic Methods ◽  
Published Data ◽  
Case Definitions ◽  
Zoo Animals

Mycobacterium avium subspecies paratuberculosis (MAP) is the causative agent of paratuberculosis (ParaTB or Johne's disease), a contagious, chronic and typically fatal enteric disease of domestic and non-domestic ruminants. Clinically affected animals present wasting and emaciation. However, MAP can also infect non-ruminant animal species with less specific signs. Zoological gardens harbor various populations of diverse animal species, which are managed on limited space at higher than natural densities. Hence, they are predisposed to endemic trans-species pathogen distribution. Information about the incidence and prevalence of MAP infections in zoological gardens and the resulting potential threat to exotic and endangered species are rare. Due to unclear pathogenesis, chronicity of disease as well as the unknown cross-species accuracy of diagnostic tests, diagnosis and surveillance of MAP and ParaTB is challenging. Differentiation between uninfected shedders of ingested bacteria; subclinically infected individuals; and preclinically diseased animals, which may subsequently develop clinical signs after long incubation periods, is crucial for the interpretation of positive test results in animals and the resulting consequences in their management. This review summarizes published data from the current literature on occurrence of MAP infection and disease in susceptible and affected zoo animal species as well as the applied diagnostic methods and measures. Clinical signs indicative for ParaTB, pathological findings and reports on detection, transmission and epidemiology in zoo animals are included. Furthermore, case reports were re-evaluated for incorporation into accepted consistent terminologies and case definitions.

scholarly journals Neonatal Oculocutaneous Albinism Type 2 With Prader-Willi Syndrome

2020 ◽  
Author(s):  
Gaohong Wu ◽  
Dongya Yan ◽  
Meijuan Zhou ◽  
Wenmei Li ◽  
Ping Jiang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
High Throughput Sequencing ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Oculocutaneous Albinism ◽  
Prader Willi Syndrome ◽  
White Skin ◽  
Feeding Difficulties

Abstract Background: To investigate the pathogenesis and clinical characteristics of Oculocutaneous albinism type 2 (OCA2), a genetic condition in the etiology of Prader-Willi syndrome (PWS).Case presentation: A retrospective study of one case presented with poor response to stimuli, difficultfeeding, poor crying, with yellow hair and white skin. We performed genetic testing and investigated disease pathogenesis, clinical manifestations, and diagnosis, and discussed the characteristics of the disease through a literature review. HiSeq high-throughput sequencing result suggested a deletion with 105 genes, including UBE3A, SNRPN, OCA2, and other genes up to 5.18 Mb on the long arm of chromosome (15q11-13 region), a critical region, susceptible to the PWS. A paternally derived deletion Del (15q11. 2q13. 1) [GRCh37 / hg19] (23, 378, 392-28, 563, 050) × 1, and a maternal missense mutation were identified in the OCA2 gene (chr15: 28171296 c .2056G> A (p.A686T). During the period of hospitalization, the child still suffered from poor milk intake, and she was discharged from the hospital at the request of her parents. After discharge, the patient was followed up for two months by telephone. However, the patient died of feeding difficulties and pulmonary infection.Conclusions: OCA2 combined with PWS due to OCA2 gene missense mutation combined with large fragment deletion of 15q11-13 region was first reported in this study, of which the clinical signs can be subtle and symptoms can be more severe, therefore, early genetic testing is crucial for those patients to yield an accurate diagnosis and initiate aggressive interventions to optimize the outcomes.

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

2020 ◽  
Vol 13 (12) ◽  
pp. e236152
Author(s):  
Naveen Parkash Gupta ◽  
Vinita Verma ◽  
Saurabh Chopra ◽  
Vivek Choudhury
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
Genetic Predisposition ◽  
Seizure Disorder ◽  
Β Subunit ◽  
Tonic Spasm ◽  
Initial Improvement ◽  
External Stimuli ◽  
Neurodevelopment Outcome

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the β subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.

scholarly journals Changes of Dorsal Root Ganglion Volume in Dogs with Clinical Signs of Degenerative Myelopathy Detected by Water-Excitation Magnetic Resonance Imaging

Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1702
Author(s):  
Eiji Naito ◽  
Kohei Nakata ◽  
Yukiko Nakano ◽  
Yuta Nozue ◽  
Shintaro Kimura ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Spinal Cord ◽  
Magnetic Resonance ◽  
Clinical Signs ◽  
Intervertebral Disc Herniation ◽  
Resonance Imaging ◽  
Diagnostic Potential ◽  
Water Excitation ◽  
Spinal Cord Segment ◽  
Degenerative Myelopathy

Canine degenerative myelopathy (DM) is a progressive and fatal neurodegenerative disease. However, a definitive diagnosis of DM can only be achieved by postmortem histopathological examination of the spinal cord. The purpose of this study was to investigate whether the volumetry of DRG using the ability of water-excitation magnetic resonance imaging (MRI) to visualize the DRG in dogs has premortem diagnostic value for DM. Eight dogs with DM, twenty-four dogs with intervertebral disc herniation (IVDH), and eight control dogs were scanned using a 3.0-tesla MRI system, and water-excitation images were obtained to visualize and measure the volume of DRG, normalized by body surface area. The normalized mean DRG volume between each spinal cord segment and mean volume of all DRG between T8 and L2 in the DM group was significantly lower than that in the control and the IVDH groups (P = 0.011, P = 0.002, respectively). There were no correlations within the normalized mean DRG volume between DM stage 1 and stage 4 (rs = 0.312, P = 0.128, respectively). In conclusion, DRG volumetry by the water-excitation MRI provides a non-invasive and quantitative assessment of neurodegeneration in DRG and may have diagnostic potential for DM.

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

2021 ◽  
Author(s):  
K. Sarazhyna ◽  
Y. Solodovnikova ◽  
A. Son
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skeletal Muscles ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Lower Limbs ◽  
Molecular Genetic Testing ◽  
Membrane Repair ◽  
Rare Type ◽  
A Cell

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

scholarly journals Anterior cruciate ligament ganglion: case report

2002 ◽  
Vol 120 (6) ◽  
pp. 195-197 ◽  
Author(s):  
André Pedrinelli ◽  
Fábio Bonini Castellana ◽  
Ricardo Bragança de Vasconcellos Fontes ◽  
Rafael Ferreira Coelho ◽  
Luiz Álvaro de Menezes F°.
Keyword(s):  
Magnetic Resonance Imaging ◽  
Anterior Cruciate Ligament ◽  
Case Report ◽  
Magnetic Resonance ◽  
Cruciate Ligament ◽  
Clinical Signs ◽  
Left Knee ◽  
Pathological Examination ◽  
Resonance Imaging ◽  
Anterior Cruciate

CONTEXT: A ganglion is a cystic formation close to joints or tendinous sheaths, frequently found in the wrist, foot or knee. Intra-articular ganglia of the knee are rare, and most of them are located in the anterior cruciate ligament. The clinical picture for these ganglia comprises pain and movement restrictions in the knee, causing significant impairment to the patient. Symptoms are non-specific, and anterior cruciate ligament ganglia are usually diagnosed through magnetic resonance imaging or arthroscopy. Not all ganglia diagnosed through magnetic resonance imaging need to undergo surgical treatment: only those that cause clinical signs and symptoms do. Surgical results are considered good or excellent in the vast majority of cases. CASE REPORT: A 29-year-old male presented with pain in the left knee during a marathon race. Physical examination revealed limitation in the maximum range of knee extension and pain in the posterior aspect of the left knee. Radiographs of the left knee were normal, but magnetic resonance imaging revealed a multi-lobed cystic structure adjacent to the anterior cruciate ligament, which resembled a ganglion cyst. The mass was removed through arthroscopy, and pathological examination revealed a synovial cyst. Patient recovery was excellent, and he resumed his usual training routine five months later.

scholarly journals Emergence of a Novel Reassortant Strain of Bluetongue Serotype 6 in Israel, 2017: Clinical Manifestations of the Disease and Molecular Characterization

Viruses ◽  
2019 ◽  
Vol 11 (7) ◽  
pp. 633 ◽  
Author(s):  
Natalia Golender ◽  
Avi Eldar ◽  
Marcelo Ehrlich ◽  
Yevgeny Khinich ◽  
Gabriel Kenigswald ◽  
...  
Keyword(s):  
South African ◽  
Bluetongue Virus ◽  
Mediterranean Basin ◽  
Rna Viruses ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
The Other ◽  
Reassortant Strain ◽  
Cattle Farms ◽  
The Mediterranean Basin

Reassortment contributes to the evolution of RNA viruses with segmented genomes, including Bluetongue virus (BTV). Recently, co-circulation of natural and vaccine BTV variants in Europe, and their ensuing reassortment, were proposed to promote appearance of novel European BTV strains, with potential implications for pathogenicity, spread and vaccination policies. Similarly, the geographical features of the Mediterranean basin, which spans over portions of three continents, may facilitate the appearance of clinically relevant reassortants via co-circulation of BTV strains of African, Asian and European origins. In August–October 2017, BTV serotype 6 (BTV-6) was identified in young animals exhibiting classical clinical signs of Bluetongue (BT) at Israeli sheep and cattle farms. Sequencing and pairwise analysis of this Israeli BTV-6 isolate revealed the closest sequence homology of its serotype-defining Segment 2 was with that of South African reference BTV-6 strain 5011 (93.88% identity). In contrast, the other viral segments showed highest homology (97.0%–99.47% identity) with BTV-3, -4 and -9 of Mediterranean and African origins. Specifically, four viral segments were nearly identical (99.13%–99.47%), with Tunisian and Italian BTV-3 strains (TUN2016 and SAD2018, correspondingly). Together, our data suggest that Mediterranean co-circulation and reassortment of BTV-3 and BTV-6 drove the emergence of a novel and virulent BTV-6 strain

scholarly journals Negative MRI findings in a case of degenerative myelopathy in a dog : clinical communication

2009 ◽  
Vol 80 (4) ◽  
Author(s):  
M. Okada ◽  
M. Kitagawa ◽  
K. Kanayama ◽  
H. Yamamura ◽  
T. Sakai
Keyword(s):  
Magnetic Resonance Imaging ◽  
Histopathological Examination ◽  
Clinical Signs ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Clinical Communication ◽  
Bladder Control ◽  
Blood Tests ◽  
Degenerative Myelopathy ◽  
Magnetic Resonance Imaging Mri

An 11-year-old male Rough collie was submitted with paraparesis, but did not respond to medical treatment. Clinical signs worsened and the dog displayed paralysis, inability to stand and loss of voluntary bladder control, whereupon magnetic resonance imaging (MRI) was performed. No significant abnormalities were identified from MRI, blood tests, cerebrospinal fluid tests or radiography. After MRI, the dog developed dyspnoea and died. Autopsy and subsequent histopathological examination led to a diagnosis of degenerative myelopathy.

scholarly journals Diagnostic significance of clinical and para-clinical signs of community-acquired pneumonia in children

2020 ◽  
Vol 24 (2) ◽  
pp. 244-249
Author(s):  
V.Yu. Pasik
Keyword(s):  
Young Children ◽  
Sensitivity And Specificity ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
The Body ◽  
Diagnostic Methods ◽  
Statistical Hypothesis ◽  
Diagnostic Significance ◽  
Operational Characteristics ◽  
Gallbladder Dyskinesia

Annotation. Respiratory diseases are relevant in pediatric practice, which is associated with its widespread and frequent complications, especially in young children. The aim of the study was to assess the diagnostic value of clinical symptoms, laboratory and ultra-sonographic parameters in pneumonia in children of the first 3 years of life. A retrospective study of medical records of 218 children who were hospitalized in the department for young children diagnosed with pneumonia for the period from 2016 to 2018. The average age of children was 11.67±9.97 months and it was within the range from 1 month to 3 years. The ration of boys and girls was practically identical (51.8% and 48.2% accordingly). The first group included children aged under one year (the average age is 4.57±0.84 months; n=88). The second group included children aged from 1 to 3 years (the average age is 18.2±4.25 months; n=130). To characterize the information content of clinical and laboratory symptoms the study has used objective parameters defined as the operational characteristics of tests. The most important operational characteristics of diagnostic methods included: sensitivity (Se, sensitivity) and specificity (Sp, specificity). To check the statistical hypothesis on differences of absolute and relative frequencies, fractions, and ratios in two independent samples, the criteria of хі-square (χ2) was used. While detailing an anamnesis, the disease was more often related to untimely treatment and outpatient care. Various data were obtained on the absolute and relative risk, as well as the sensitivity and specificity of the localization of pneumonia depending on age. Therefore, the incidence of bilateral pneumonia was considered an indicator of risk. On admission to hospital, the body temperature of patients was 38.2±0.66°С. Most of the complaints were on the unproductive or productive cough. Besides, in some cases, shortness of breath and runny nose were mentioned. Thus, in young children with pneumonia, a diagnostically significant clinical symptom is a bilateral lung impression (82.6%), compared with right-handed (15.1%) and left-handed (2.3%), which is significantly more common in children under 1-th year of life compared with patients 1–3 years; laboratory features are probably higher levels of liver-specific enzymes – ALT and AST in children under 1 year; ultrasonographic indicators associated with the presence of pneumonia in young children include increased liver size, gallbladder deformity, the presence of sediment in the gallbladder, dyskinesia of the biliary tract, thickening of the gallbladder wall; children under 1 year of age have a risk of liver enlargement and biliary dyskinesia.

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