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1.
Pathogens ; 12(9)2023 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-37764980

RESUMO

Nematodes of the genus Anisakis (Rhabditida, Anisakidae) are zoonotic fish-borne parasites and cause anisakiasis, a disease with mild to severe acute or chronic gastrointestinal and allergic symptoms and signs. Anisakiasis can potentially lead to misdiagnosis or delay in diagnosis, and it has been suggested as a risk factor for gastrointestinal tumors. Here, we describe a case report of a 25-year-old woman who presented with gastrointestinal (abdominal pain, nausea, diarrhea) and allergic (diffuse skin rash) symptoms and reported ingestion of raw fish contaminated by worms. Gastro and colon endoscopy allowed the visualization and removal of nematodes and collection of bioptic tissue from ulcers and polyps. The removed nematodes were molecularly identified as Anisakis pegreffii. The patient was treated with chlorphenamine maleate, betamethasone, omeprazole, paracetamol, albendazole. We conclude that an upper endoscopy matched with a colonoscopy and molecular characterization of the pathogen yields the most reliable diagnosis and treatment for human anisakiasis, enabling the complete removal of the larvae and preventing chronic inflammation and damage.

2.
J Vet Intern Med ; 37(6): 2278-2290, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37726924

RESUMO

BACKGROUND: Peripheral nerve sheath tumors (PNSTs) are a group of neoplasms originating from Schwann cells or pluripotent cell of the neural crest. Therapeutic options and prognosis are influenced by their degree of malignancy and location. HYPOTHESIS/OBJECTIVES: Identify magnetic resonance imaging (MRI) features predictive of PNST histologic grade. ANIMALS: Forty-four dogs with histopathological diagnosis of spinal PNSTs and previous MRI investigation. METHODS: A multicenter retrospective study including cases with (a) histopathologic diagnosis of PNST and (b) MRI studies available for review. Histologic slides were reviewed and graded by a board-certified pathologist according to a modified French system (FNCLCC) for grading soft tissue sarcomas. The MRI studies were reviewed by 2 board-certified radiologists blinded to the grade of the tumor and the final decision on the imaging characteristics was reached by consensus. Relationships between tumor grade and histological and MRI findings were assessed using statistical analysis. RESULTS: Forty-four cases met inclusion criteria; 16 patients were PNSTs Grade 1 (low-grade), 19 were PNSTs Grade 2 (medium-grade), and 9 were PNSTs Grade 3 (high-grade). Large volume (P = .03) and severe peripheral contrast enhancement (P = .04) were significantly associated with high tumor grade. Degree of muscle atrophy, heterogeneous signal and tumor growth into the vertebral canal were not associated with grade. CONCLUSIONS AND CLINICAL IMPORTANCE: Grade of malignancy was difficult to identify based on diagnostic imaging alone. However, some MRI features were predictive of high-grade PNSTs including tumor size and peripheral contrast enhancement.


Assuntos
Doenças do Cão , Neoplasias de Bainha Neural , Sarcoma , Humanos , Cães , Animais , Estudos Retrospectivos , Neoplasias de Bainha Neural/diagnóstico por imagem , Neoplasias de Bainha Neural/veterinária , Imageamento por Ressonância Magnética/veterinária , Sarcoma/diagnóstico por imagem , Sarcoma/veterinária , Certificação , Doenças do Cão/diagnóstico por imagem
3.
Genes (Basel) ; 14(8)2023 08 18.
Artigo em Inglês | MEDLINE | ID: mdl-37628692

RESUMO

An 8-month-old female Lagotto Romagnolo dog was presented for a 1-month history of an initial severe reluctance to move, rapidly progressing to a marked stiff gait and progressive muscular weakness and evolving to tetraparesis, which persuaded the owner to request euthanasia. A primary muscle pathology was supported by necropsy and histopathological findings. Macroscopically, the muscles were moderately atrophic, except for the diaphragm and the neck muscles, which were markedly thickened. Histologically, all the skeletal muscles examined showed atrophy, hypertrophy, necrosis with calcification of the fibers, and mild fibrosis and inflammation. On immunohistochemistry, all three dystrophin domains and sarcoglycan proteins were absent. On Western blot analysis, no band was present for delta sarcoglycan. We sequenced the genome of the affected dog and compared the data to more than 900 control genomes of different dog breeds. Genetic analysis revealed a homozygous private protein-changing variant in the SGCD gene encoding delta- sarcoglycan in the affected dog. The variant was predicted to induce a SGCD:p.(Leu242Pro) change in the protein. In silico tools predicted the change to be deleterious. Other 770 Lagotto Romagnolo dogs were genotyped for the variant and all found to be homozygous wild type. Based on current knowledge of gene function in other mammalian species, including humans, hamsters, and dogs, we propose the SGCD missense variant as the causative variant of the observed form of muscular dystrophy in the index case. The absence of the variant allele in the Lagotto Romagnolo breeding population indicates a rare allele that has appeared recently.


Assuntos
Distrofia Muscular do Cíngulo dos Membros , Sarcoglicanas , Cricetinae , Humanos , Cães , Feminino , Animais , Lactente , Sarcoglicanas/genética , Músculo Esquelético , Alelos , Atrofia , Mamíferos
4.
Animals (Basel) ; 13(9)2023 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-37174546

RESUMO

The Dutch Kooiker dog (het Nederlandse Kooikerhondje) is one of nine Dutch dog breeds. As of 1960, a number of heritable diseases have been noted in this breed. One is an inflammatory myopathy that emerged in 1972, with numbers of affected dogs gradually increasing during the last few decades. The objective of this paper is to describe clinical signs, laboratory results, electromyography and histopathology of the muscle biopsies of the affected dogs. Method: Both retrospectively as well as prospectively affected Kooiker dogs were identified and categorized using a Tiered level of Confidence. Results: In total, 160 Kooiker dogs-40 Tier I, 33 Tier II and 87 Tier III-were included. Clinical signs were (1) locomotory problems, such as inability to walk long distances, difficulty getting up, stiff gait, walking on eggshells; (2) dysphagia signs such as drooling, difficulty eating and/or drinking; or (3) combinations of locomotory and dysphagia signs. CK activities were elevated in all except for one dog. Histopathology revealed a predominant lymphohistiocytic myositis with a usually low and variable number of eosinophils, neutrophils and plasma cells. It is concluded that, within this breed, a most likely heritable inflammatory myopathy occurs. Further studies are needed to classify this inflammatory myopathy, discuss its treatment, and unravel the genetic cause of this disease to eradicate it from this population.

5.
Nat Commun ; 14(1): 624, 2023 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-36739288

RESUMO

'Staggering disease' is a neurological disease entity considered a threat to European domestic cats (Felis catus) for almost five decades. However, its aetiology has remained obscure. Rustrela virus (RusV), a relative of rubella virus, has recently been shown to be associated with encephalitis in a broad range of mammalian hosts. Here, we report the detection of RusV RNA and antigen by metagenomic sequencing, RT-qPCR, in-situ hybridization and immunohistochemistry in brain tissues of 27 out of 29 cats with non-suppurative meningoencephalomyelitis and clinical signs compatible with'staggering disease' from Sweden, Austria, and Germany, but not in non-affected control cats. Screening of possible reservoir hosts in Sweden revealed RusV infection in wood mice (Apodemus sylvaticus). Our work indicates that RusV is the long-sought cause of feline 'staggering disease'. Given its reported broad host spectrum and considerable geographic range, RusV may be the aetiological agent of neuropathologies in further mammals, possibly even including humans.


Assuntos
Encefalomielite , Humanos , Animais , Gatos , Camundongos , Causalidade , Suécia , Áustria , Alemanha , Mamíferos
6.
Microorganisms ; 11(1)2023 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-36677508

RESUMO

Since 2012, the kiwifruit vine decline syndrome (KVDS) has progressively compromised Italian kiwifruit orchards. Different abiotic and biotic factors have been associated with the establishment and development of KVDS. During monitoring of orchards affected by KVDS in north-western Italy during 2016-2019, 71 Phytopythium spp. were isolated. Based on maximum likelihood concatenated phylogeny on the ITS1-5.8S-ITS2 region of the rDNA, large subunit rDNA, and cytochrome oxidase I, isolates were identified as P. vexans (52), P. litorale (10), P. chamaehyphon (7) and P. helicoides (2). Phytopythium litorale and P. helicoides are reported for the first time as agents of KVDS in Italy. To demonstrate pathogenicity and fulfil Koch's postulates, representative isolates of P. vexans, P. litorale, P. chamaehyphon and P. helicoides were inoculated in potted plants. In these trials, waterlogging was applied to stress plant with a temporary anoxia and to favour the production of infective zoospores by the oomycetes. In experiments in vitro, the four species showed the highest growth at 25-30 °C, depending on the media used. P. helicoides was able to grow also at 40 °C. The four species were able to grow in vitro at a pH ranging from 5.0 to 8.0, showing that pH had less effect on growth than temperature. The present study suggests a strong role of different species of Phytopythium in the establishment and development of KVDS. Phytopythium spp. could be favoured by the average increase in soil temperatures during summer, associated with global warming.

7.
Vet Radiol Ultrasound ; 64(2): 294-305, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36329600

RESUMO

Intravascular lymphoma (IVL) is characterized by the proliferation of large malignant lymphocytes within the lumen of blood vessels. This retrospective, multi-center, case series study aimed to describe the MRI features of confirmed central nervous system IVL in dogs and compare them with histopathological findings. Medical record databases from seven veterinary centers were searched for cases of histologically confirmed IVL. Dogs were included if an MRI was performed. The MRI studies and histopathology samples were reviewed to compare the MRI changes with the histopathological findings. Twelve dogs met the inclusion criteria (12 brains and three spinal cords). Imaging of the brains revealed multifocal T2-weighted/FLAIR hyperintense and T1-weighted iso-hypointense lesions, with variable contrast enhancement; areas of abnormal diffusion both in arterial and venous territories in diffusion-weighted imaging; and meningeal enhancement. On gradient echo images (GRE), the changes comprised tubular susceptibility artifacts, consistent with the "susceptibility vessel sign", and additional variably sized/shaped intraparenchymal susceptibility artifacts. Spinal cord lesions presented as fusiform T2-weighted hyperintensities with scattered susceptibility artifacts on GRE and variable parenchymal and meningeal contrast enhancement. On histopathology, subarachnoid hemorrhages and neuroparenchymal areas of edema and necrosis, with or without hemorrhage, indicating ischemic and hemorrhagic infarctions, were found. These lesions were concurrent with severely dilated meningeal and parenchymal arteries and veins plugged by neoplastic lymphocytes and fibrin. Due to the unique angiocentric distribution of IVL, ischemic and hemorrhagic infarcts of variable chronicity affecting both the arterial and venous territories associated with thrombi formation can be detected on MRI.


Assuntos
Doenças do Cão , Linfoma não Hodgkin , Linfoma , Cães , Animais , Estudos Retrospectivos , Imageamento por Ressonância Magnética/veterinária , Linfoma não Hodgkin/veterinária , Encéfalo/patologia , Linfoma/diagnóstico por imagem , Linfoma/veterinária , Hemorragia/veterinária , Artérias/patologia , Doenças do Cão/diagnóstico por imagem , Doenças do Cão/patologia
8.
Neuromuscul Disord ; 32(11-12): 903-907, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36418199

RESUMO

Gluten-related disorders in humans comprise different entities, including coeliac disease. Patients typically have measurable titers of anti-gliadin IgG or IgA (AGAs) and anti-transglutaminase-2 IgA (TG2). In addition to intestinal symptoms, human patients often show various neurological complications. In dogs, the neurological manifestation is rarely reported. Here we describe the muscle and nerve biopsies of an 11-year-old, male Border Terrier presenting with lower motor neuron signs submitted for histological examination. Examination of the biopsies showed an oligofocal lymphohistiocytic and plasmocytic myositis and a diffuse neuropathy of mixed nodo-paranodal and demyelinating type. Suspecting a neuromuscular form of breed-related gluten hypersensitivity, measurements of AGAs and TG2 antibodies were performed. Both titers ranged above control values. Hence, a gluten-related neuromyopathy was diagnosed. A gluten-free diet was prescribed and a complete disappearance of clinical signs was observed. Gluten-related disorders should be considered as a differential diagnosis in dogs with intestinal and neuromuscular signs.


Assuntos
Doença Celíaca , Doenças do Sistema Imunitário , Cães , Humanos , Masculino , Animais , Criança , Doença Celíaca/diagnóstico , Glutens/efeitos adversos , Gliadina , Imunoglobulina A
9.
Open Vet J ; 12(3): 323-328, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35821770

RESUMO

Background: The endolymphatic sac is an organ devoid of sensory receptors. It is connected with the endolymphatic compartment and contains endolymph. Endolymphatic sac tumor (ELST) is a rare neoplasm involving the middle and inner ear described in humans and dogs that does not show cellular characteristics of malignancy, but can be locally invasive and involve destruction of the temporal bone and adjacent structures. Case Description: An 8-month-old female cat was referred because of sudden onset of vestibular signs starting 3 days prior to referral. On clinical examination, the patient showed depression, right head tilt, left-sided facial paralysis, and horizontal nystagmus with fast phase to the left. The magnetic resonance images showed a voluminous extra-axial lesion, with irregular morphology and well-defined margins, with intracranial extension in the region of the pons, rostral medulla oblongata, cerebellar vermis, floccule, and left cerebellar hemisphere. Due to progressive clinical deterioration, the cat was euthanized 2 weeks later. A necropsy was then performed and histological samples were taken. The necropsy revealed the presence of a voluminous dark red irregular mass extending from the tympanic bulla to the posterior cranial fossa following the left glossopharyngeal nerve. The histopathological exam of the extra-axial lesion featured a nonencapsulated, moderately cellular, rather loose, proliferation of cuboidal to columnar epithelium breaching through chunks of an otherwise normal appearing dura mater and invading some cranial nerves. Sections of the cerebellum and brainstem revealed moderate, focal, impingement of the parenchyma with a very mild extension of the proliferating cells into the ventral left side of the medulla oblongata. Based on these histological characteristics, the lesion was defined as ELST, a rare neoplasm described in human beings and with two reports in dogs. Conclusion: To our knowledge, this is the first report describing an ELST in a cat.


Assuntos
Adenoma , Neoplasias Ósseas , Doenças do Cão , Neoplasias da Orelha , Saco Endolinfático , Adenoma/patologia , Adenoma/veterinária , Animais , Neoplasias Ósseas/patologia , Neoplasias Ósseas/veterinária , Doenças do Cão/diagnóstico , Doenças do Cão/patologia , Cães , Neoplasias da Orelha/diagnóstico , Neoplasias da Orelha/patologia , Neoplasias da Orelha/veterinária , Saco Endolinfático/patologia , Feminino , Humanos , Osso Temporal/patologia
10.
Front Vet Sci ; 9: 886495, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35865877

RESUMO

A male 10-year-old captive red kangaroo (Macropus rufus) was presented with a chronic progressive pelvic limb lameness and reluctance to jump. The general examination revealed a palpable induration of the lumbar epaxial muscles. Magnetic resonance imaging performed under general anesthesia revealed bilateral almost symmetric, well-circumscribed mass lesions in superficial erector spinae muscles. The lesions had irregular to multilobulated appearance with hyper-, hypo-, and isointense areas in T2- and T1-weighted (w) sequences without contrast enhancement. On computed tomography, a peripheral rim of mineralization was apparent. Histopathological analysis of a muscle biopsy showed osseous trabeculae with rare clusters of chondrocytes indicating metaplasia of muscle tissue to bone. No indications of inflammation or malignancy were visible. The clinical, histopathological, and imaging workup of this case was consistent with myositis ossificans circumscripta. This disorder is particularly well-known among human professional athletes such as basketball players, where excessive, chronic-repetitive force or blunt trauma causes microtrauma to the musculature. Metaplasia of muscle tissue due to abnormal regeneration processes causes heterotopic ossification. The kangaroo's clinical signs improved with cyto-reductive surgery, cage rest, weight reduction, and meloxicam without further relapse.

11.
Front Vet Sci ; 9: 928309, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35812863

RESUMO

Inflammatory polyradiculoneuropathy (IMPN) is one of the causes of sudden onset of neuromuscular signs such as para-/tetraparesis in young cats. Even though most cases have a favorable outcome, persistent deficits, relapses, and progressive courses are occasionally seen. As clinical presentation does not always appear to predict outcome and risk of recurrence, this study was initiated to screen for prognostic biopsy findings in a large cohort of histologically confirmed IMPN cases with clinical follow-up. In total, nerve and muscle specimens of 107 cats with biopsy diagnosis of presumed autoreactive inflammatory polyneuropathy and 22 control cases were reviewed by two blinded raters for a set of 36 histological parameters. To identify patterns and subtypes of IMPN, hierarchical k-means clustering of 33 histologic variables was performed. Then, the impact of histological parameters on IMPN outcome was evaluated via an univariate analysis to identify variables for the final multivariate model. The data on immediate outcome and follow-up were collected from submitting neurologists using a purpose-designed questionnaire. Hierarchical k-means clustering sorted the tissues into 4 main categories: cluster 1 (44/129) represents a purely inflammatory IMPN picture, whereas cluster 2 (47/129) was accompanied by demyelinating features and cluster 3 (16/129) by Wallerian degeneration. Cluster 4 (22/129) reflects normal tissues from non-neuropathic control cats. Returned questionnaires provided detailed information on outcome in 63 animals. They were categorized into recovered and non-recovered. Thereby, fiber-invasive infiltrates by mononuclear cells and mild fiber loss in intramuscular nerve branches correlated with higher probabilities of recovery. Remyelination in semithin sections, on the other hand, is correlated with a less favorable outcome. Animals grouping in cluster 1 had a tendency to a higher probability of recovery compared to other clusters. In conclusion, diagnosis of feline IMPN from nerve and muscle biopsies allowed for the identification of histologic features that were positively or negatively correlated with outcome.

12.
Front Vet Sci ; 9: 875657, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35664840

RESUMO

There is a paucity of information on the clinical course and outcome of young cats with polyneuropathy. The aim of the study was to describe the clinical features, diagnostic investigations, and outcome of a large cohort of cats with inflammatory polyneuropathy from several European countries. Seventy cats with inflammatory infiltrates in intramuscular nerves and/or peripheral nerve biopsies were retrospectively included. Information from medical records and follow up were acquired via questionnaires filled by veterinary neurologists who had submitted muscle and nerve biopsies (2011-2019). Median age at onset was 10 months (range: 4-120 months). The most common breed was British short hair (25.7%), followed by Domestic short hair (24.3%), Bengal cat (11.4%), Maine Coon (8.6%) and Persian cat (5.7%), and 14 other breeds. Male cats were predominantly affected (64.3%). Clinical signs were weakness (98.6%) and tetraparesis (75.7%) in association with decreased withdrawal reflexes (83.6%) and, less commonly, cranial nerve signs (17.1%), spinal pain/hyperesthesia (12.9%), and micturition/defecation problems (14.3%). Onset was sudden (30.1%) or insidious (69.1%), and an initial progressive phase was reported in 74.3%. Characteristic findings on electrodiagnostic examination were presence of generalized spontaneous electric muscle activity (89.6%), decreased motor nerve conduction velocity (52.3%), abnormal F-wave studies (72.4%), pattern of temporal dispersion (26.1%) and unremarkable sensory tests. The clinical course was mainly described as remittent (49.2%) or remittent-relapsing (34.9%), while stagnation, progressive course or waxing and waning were less frequently reported. Relapses were common and occurred in 35.7% of the cats' population. An overall favorable outcome was reported in 79.4% of patients. In conclusion, young age at the time of diagnosis and sudden onset of clinical signs were significantly associated with recovery (p < 0.05). Clinical and electrodiagnostic features and the remittent-relapsing clinical course resembles juvenile chronic inflammatory demyelinating polyneuropathy (CIDP), as seen in human (children/adolescents), in many aspects.

14.
Fungal Genet Biol ; 156: 103622, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34464707

RESUMO

Bakanae, one of the most important diseases of rice, is caused by the fungal pathogen Fusarium fujikuroi. The elongation of internodes is the most common symptom induced by the pathogen, and it is related to the production of gibberellins. Despite this, the pathogenicity mechanism of F. fujikuroi is still not completely clear, and there are some strains inducing stunting instead of elongation. Even if there are relatively many genomes of F. fujikuroi strains available in online databases, none of them belongs to an isolate of proven non-virulence, and therefore there has been no comparative genomics study conducted between virulent and non-virulent strains. In the present work, the genomes of non-virulent strain SG4 and scarcely virulent strain C2S were compared to the ones of 12 available virulent isolates. Genes present in the majority of available virulent strains, but not in the non-virulent one, underwent functional annotation with multiple tools, and their expression level during rice infection was checked using pre-existing data. Nine genes putatively related to pathogenicity in F. fujikuroi were identified throughout comparative and functional analyses. Among these, many are involved in the degradation of plant cell wall, which is poorly studied in F. fujikuroi-rice interactions. Three of them were validated through qPCR, showing higher expression in the virulent strain and low to no expression in the low virulent and non virulent strains during rice infection. This work helps to clarify the mechanisms of pathogenicity of F. fujikuroi on rice.


Assuntos
Fusarium , Oryza , Fusarium/genética , Virulência/genética
15.
Plant Dis ; 2021 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-34096771

RESUMO

Brown rot is a common apple disease in Italy, caused by Monilinia fructicola, M. laxa and M. fructigena (Martini et al. 2013). In September 2020, in a 'Jeromine' apple orchard under integrated pest management located in Scarnafigi (44°39'N, 7°33'E, north-western of Italy), fruits (8.6%) showing brown to blackish firm lesions (6.0 to 8.0 cm diameter) were observed. In some fruits, rots were covered by yellowish stromata. Two isolates (MPI1; MPI2) were obtained from two symptomatic apples and cultured on potato dextrose agar (PDA) for 7 days at 25°C in 12-h light/12-h dark regime. A white-to-greyish mycelium with slightly undulate margins and irregular, black stromata developed on PDA after 12 days incubation. Conidia, observed in branched monilioid chains, (Suppl. Fig. 1) were one-celled, globose, limoniform, hyaline, 38 to 58 µm (mean: 48) × 20 to 44 µm (mean: 33). Based on morphology, the isolates were tentatively identified as Monilinia polystroma (G.C.M. Leeuwen) Kohn. A polymerase chain reaction with primers ITS1 and ITS4 was performed on internal transcribed spacer (ITS) region 1 and 2 and 5.8S gene. The sequenced amplicons (435 bp - 445 bp; GenBank Accession No. MW600854; MW600855) showed 100% identity to the reference isolate of M. polystroma (HQ846944) and to other isolates from apples (AM937114; JX315717) and plum (GU067539). The ITS region of M. polystroma had five nucleotides to distinguish it from the closest species M. fructigena (Zhu et al. 2016; MH862738) (Suppl. Fig. 2). The pathogenicity of both isolates was tested on mature 'Jeromine' apples (10.1% total soluble solids). Three replicates of six apples per isolate were surface disinfected with 1% NaClO. A mycelial plug (5 mm) from colony grown on PDA was inserted using a cork borer into a hole (6 mm) in each fruit (Vasic et al. 2016). Apples inoculated with sterile PDA plugs were used as control. Fruits were placed at 22 ± 1 °C, 85% relative humidity and 12 h light/12 h dark regime. Lesion size was measured after 3, 6 and 9 days of incubation. All inoculated fruits developed typical brown rot symptoms 6 days after inoculation and yellowish stromata appeared on the surface; control fruit remained healthy (Suppl. Fig. 3). The virulence of both isolates was statistically similar (Suppl. Table 1). M. polystroma was reisolated from all inoculated fruits and confirmed by molecular methods. This is the first report of M. polystroma on apple in Italy. M. polystroma was previously reported on apple in Hungary (Petróczy et al. 2009), on apricot in Switzerland (Hilber-Bodmer et al. 2012), on peach and pear in Italy (Martini et al. 2014; 2015), on plum in China (Zhu et al. 2016), and on apple in Serbia (Vasic et al. 2018). The emergence of this pathogen for pome and stone fruit production in Europe stimulates to study its biology and epidemiology, and its fitness and management, as compared to the other endemic Monilinia species.

16.
Hum Genet ; 140(11): 1593-1609, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33835239

RESUMO

We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6-12 weeks of age and progressed rapidly to status epilepticus and death or euthanasia. Histopathological changes at autopsy were restricted to the brain. There was severe acute neuronal degeneration and necrosis diffusely affecting the grey matter throughout the brain with extensive intraneuronal mitochondrial crowding and accumulation of amyloid-ß (Aß). Combined homozygosity mapping and genome sequencing revealed an in-frame 6-bp deletion in the nuclear-encoded pitrilysin metallopeptidase 1 (PITRM1) encoding for a mitochondrial protease involved in mitochondrial targeting sequence processing and degradation. The 6-bp deletion results in the loss of two amino acid residues in the N-terminal part of PITRM1, potentially affecting protein folding and function. Assessment of the mitochondrial function in the affected brain tissue showed a significant deficiency in respiratory chain function. The functional consequences of the mutation were modeled in yeast and showed impaired growth in permissive conditions and an impaired respiration capacity. Loss-of-function variants in human PITRM1 result in a childhood-onset progressive amyloidotic neurological syndrome characterized by spinocerebellar ataxia with behavioral, psychiatric and cognitive abnormalities. Homozygous Pitrm1-knockout mice are embryonic lethal, while heterozygotes show a progressive, neurodegenerative phenotype characterized by impairment in motor coordination and Aß deposits. Our study describes a novel early-onset PITRM1-related neurodegenerative canine brain disorder with mitochondrial dysfunction, Aß accumulation, and lethal epilepsy. The findings highlight the essential role of PITRM1 in neuronal survival and strengthen the connection between mitochondrial dysfunction and neurodegeneration.


Assuntos
Doenças do Cão/genética , Epilepsia/veterinária , Metaloendopeptidases/genética , Mitocôndrias/metabolismo , Doenças Neurodegenerativas/veterinária , Peptídeos beta-Amiloides/metabolismo , Animais , Encéfalo/enzimologia , Encéfalo/metabolismo , Encéfalo/patologia , Doenças do Cão/patologia , Cães , Epilepsia/genética , Feminino , Masculino , Metaloendopeptidases/química , Metaloendopeptidases/metabolismo , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/patologia , Consumo de Oxigênio , Linhagem , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crescimento & desenvolvimento , Saccharomyces cerevisiae/metabolismo
17.
Acta Vet Scand ; 63(1): 14, 2021 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-33781325

RESUMO

BACKGROUND: Granulomatous myositis is a rare condition in both humans and dogs. In humans it is most frequently related to sarcoidosis, where a concurrent granulomatous neuritis has been reported occasionally. Simultaneous granulomatous myositis and neuritis have been diagnosed previously in dogs (unpublished observations), but have not been studied further. Additional investigations are therefore warranted to characterize this disorder. Here we present a detailed description of concurrent idiopathic granulomatous myositis and granulomatous neuritis in a dog with suspected immune-mediated aetiology. CASE PRESENTATION: The dog presented with dysphonia and paresis in the pelvic limbs and tail. In addition to muscle biopsies being taken for histopathology, magnetic resonance imaging, computed tomography and electrodiagnostics were performed. Muscle biopsies displayed granuloma formation with giant cells and epithelioid macrophages in muscle fibres and nerve branches. Microorganisms were not detected. Long-term treatment with glucocorticoids was clinically successful. Two years after the clinical signs started, the dog presented with signs of sepsis and died. Histopathologically, no granulomatous inflammation could be demonstrated in either muscles or nerves at that time. CONCLUSIONS: This case illustrates a granulomatous interstitial polymyositis and intramuscular neuritis that improved clinically and resolved histologically with glucocorticoid treatment. Idiopathic granulomatous myositis and neuritis should be considered as a differential diagnosis in dogs with clinical signs of neuromuscular disorders.


Assuntos
Doenças do Cão/diagnóstico , Granuloma/veterinária , Neurite (Inflamação)/veterinária , Polimiosite/veterinária , Animais , Diagnóstico Diferencial , Doenças do Cão/patologia , Cães , Evolução Fatal , Granuloma/complicações , Granuloma/diagnóstico , Neurite (Inflamação)/complicações , Neurite (Inflamação)/diagnóstico , Polimiosite/complicações , Polimiosite/diagnóstico
18.
Plant Dis ; 2021 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-33616431

RESUMO

Romania has an area dedicated to hazelnut (Corylus avellana L.), covering 890 hectares as of 2019. During October 2020, powdery mildew symptoms were observed on the upper side of leaves of hazelnut 'Tonda di Giffoni' in two commercial orchards in Dudeștii Vechi, Romania (Fig. 1). The disease was present on 70% of the trees in planting, with at least 5 leaves per tree having powdery mildew. Micromorphological examination revealed amphigenous, hyaline, branched, septate mycelial patches of 2.3 to 3.6 µm in diameter. Conidiophores measured 24-60 × 5-6 (average: 45 × 6) µm and consisted of erect, cylindrical to flexuous foot cells, followed by 1-2 shorter cells. Ellipsoid, ovoid to doliform conidia were produced singly and they measured 19-35 × 16-24 (average: 28 × 19) µm. Chasmothecia were spherical, 75 to 107 (average: 88) µm in diameter. Nine to thirteen straight, sometimes flexuous, appendages measured 54 to 92 (average: 66) µm in length and they had five times dichotomous branched apices with curved tips (Fig. 2). Each chasmothecium contained three to five ellipsoid, ovoid to subglobose asci measuring 41-58 × 29-55 µm (average 52 × 43) µm. The asci contained four to eight ascospores measuring 13-24 × 11-15 (average 18 × 14) µm. Morphological identification was confirmed by sequencing the ITS-region of rDNA using two isolates from leaves, stored as frozen mycelium at -20°C. PCR was performed with Erysiphales-specific primer pair PMITS1/PMITS2 (Cunnington et al. 2003). The obtained sequences were deposited in GenBank (Accession n° MW423075, MW423076). Blast analysis of both sequences had 100% identity to ITS rDNA sequences of Erysiphe corylacearum from Azerbaijan (Abasova et al. 2018; Accession n° LC270863), Turkey (Sezer et al. 2017; KY082910), Switzerland (Beenken et al. 2020; MN82272), Iran (Arzanlou et al. 2018; MH047243), Italy (Mezzalama et al. 2020; MW045425) and 99% identity from Georgia (Meparishvili et al. 2019; MK157199). The sequences had a lower percent identity (83%) to Phyllactinia guttata (Accession n° AB080558) (Fig. 3). Pathogenicity was verified on one-year-old plants of C. avellana 'Tonda di Giffoni', which were artificially inoculated with a conidial suspension from infected leaves (n = 25). Inoculated plants were incubated at 20 to 28°C with 70 to 80% relative humidity. White mycelium appeared on the upper surface of the leaves at 8 to 10 days after inoculation. No symptoms were found on control plants sprayed with sterile water. The fungus present on inoculated leaves was morphologically identical to the original isolates from diseased trees from the field. E. corylacearum is native to East Asia and was previously reported in Japan on wild species of Corylus (Takamatsu et al. 2015; Accession n° LC009928). The pathogen most likely spread into Europe from east to west of Europe (Heluta et al. 2019), through the Caucasus, starting from Turkey, Azerbaijan, Georgia, and Iran. P. guttata was considered the only causal agent of powdery mildew on hazelnut in most countries, including Romania (Brown 1995). Compared to P. guttata, which generally develops a mycelium on the underside of leaves, E. corylacearum grows with a white mycelium on the upper side of the leaves. Recently, E. corylacearum on C. avellana was reported also in Ukraine (Heluta et al. 2019), from which it could have moved to Romania. Crop protection strategies for hazelnut should be revised according to the new pathogen occurrence.

19.
Genes (Basel) ; 11(10)2020 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-33081289

RESUMO

Sporadic occurrence of juvenile-onset necrotizing encephalopathy (SNE) has been previously reported in Yorkshire terriers. However, so far, no causative genetic variant has been found for this breed-specific form of suspected mitochondrial encephalomyopathy. Affected dogs showed gait abnormalities, central visual defects, and/or seizures. Histopathological analysis revealed the presence of major characteristics of human Leigh syndrome and SNE in Alaskan huskies. The aim of this study was to characterize the genetic etiology of SNE-affected purebred Yorkshire terriers. After SNP genotyping and subsequent homozygosity mapping, we identified a single loss-of-function variant by whole-genome sequencing in the canine SLC19A3 gene situated in a 1.7 Mb region of homozygosity on chromosome 25. All ten cases were homozygous carriers of a mutant allele, an indel variant in exon 2, that is predicted to lead to a frameshift and to truncate about 86% of the wild type coding sequence. This study reports a most likely pathogenic variant in SLC19A3 causing a form of SNE in Yorkshire terriers and enables selection against this fatal neurodegenerative recessive disorder. This is the second report of a pathogenic alteration of the SLC19A3 gene in dogs with SNE.


Assuntos
Doença de Leigh/genética , Mutação com Perda de Função , Proteínas de Membrana Transportadoras/genética , Animais , Cruzamento , Cães , Feminino , Doença de Leigh/patologia , Masculino , Linhagem , Sequenciamento Completo do Genoma
20.
Artigo em Alemão | MEDLINE | ID: mdl-32823346

RESUMO

OBJECTIVE: Characterization of the etiology of meningoencephalitis and meningitis in dogs through an analysis of a veterinary hospital population. MATERIAL AND METHODS: Retrospective study (2011-2016) with evaluation of clinical and diagnostic data of dogs with cerebrospinal fluid (CSF) pleocytosis (> 5/µl). Only dogs with cytological evaluation of CSF or pathological examination of CNS were included. Results of CSF cytology and examination for infectious diseases were reviewed. RESULTS: A total of 62 dogs met the inclusion criteria. 14.5 % (n = 9) were classified as reactive CSF pleocytosis due to other structural CNS disease, such as neoplasia or infarct. Meningoencephalitis or meningitis of unknown origin was diagnosed in 56.5 % (n = 35). In 29.0 % (n = 18), investigations for infectious diseases or presence of bacteria in CSF cytology (n = 5) indicated an infectious etiology. This infectious etiology appeared reliable in 6 dogs (9.7 %) based on the examination findings, in 9 dogs (14.5 %), there was only a suspicion of infectious meningoencephalitis or meningitis and in 3 dogs (4.8 %), the findings were of uncertain significance. CONCLUSION: The most common cause of CSF pleocytosis was meningoencephalitis or meningitis of unknown origin. Nevertheless, there was evidence of a possible infectious etiology in 29 % of the dogs. For a reliable diagnosis, it is important to assess the CSF cytology and to conduct investigations for infectious diseases. CLINICAL RELEVANCE: Meningoencephalitis or meningitis of unknown origin requires immunosuppressive therapy. Therefore, CSF cytology and investigations for infectious diseases are important for an exclusion of infectious meningoencephalitis or meningitis.


Assuntos
Doenças do Cão , Meningite , Animais , Sistema Nervoso Central/diagnóstico por imagem , Doenças do Cão/diagnóstico , Doenças do Cão/tratamento farmacológico , Doenças do Cão/etiologia , Cães , Feminino , Hospitais Veterinários , Imunossupressores/uso terapêutico , Masculino , Meningite/diagnóstico , Meningite/tratamento farmacológico , Meningite/etiologia , Meningite/veterinária , Meningoencefalite/diagnóstico , Meningoencefalite/tratamento farmacológico , Meningoencefalite/etiologia , Meningoencefalite/veterinária , Estudos Retrospectivos
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