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1.
PLoS Pathog ; 19(6): e1011456, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37390080

RESUMO

Abnormal deposition of α-synuclein is a key feature and biomarker of Parkinson's disease. α-Synuclein aggregates can propagate themselves by a prion-like seeding-based mechanism within and between tissues and are hypothesized to move between the intestine and brain. α-Synuclein RT-QuIC seed amplification assays have detected Parkinson's-associated α-synuclein in multiple biospecimens including post-mortem colon samples. Here we show intra vitam detection of seeds in duodenum biopsies from 22/23 Parkinson's patients, but not in 6 healthy controls by RT-QuICR. In contrast, no tau seeding activity was detected in any of the biopsies. Our seed amplifications provide evidence that the upper intestine contains a form(s) of α-synuclein with self-propagating activity. The diagnostic sensitivity and specificity for PD in this biopsy panel were 95.7% and 100% respectively. End-point dilution analysis indicated up to 106 SD50 seeding units per mg of tissue with positivity in two contemporaneous biopsies from individual patients suggesting widespread distribution within the superior and descending parts of duodenum. Our detection of α-synuclein seeding activity in duodenum biopsies of Parkinson's disease patients suggests not only that such analyses may be useful in ante-mortem diagnosis, but also that the duodenum may be a source or a destination for pathological, self-propagating α-synuclein assemblies.


Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico , alfa-Sinucleína , Biópsia , Intestinos , Duodeno
2.
Vet Radiol Ultrasound ; 65(4): 359-368, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38597362

RESUMO

The prevalence of anatomical-based subtypes of feline congenital extrahepatic portosystemic shunts (EHPSS) has not been completely elucidated. The goal of this study was to use CT angiography to create an anatomical-based nomenclature system for feline congenital EHPSS. Additionally, subjective portal perfusion scores were generated to determine if intrinsic portal vein development was associated with different shunt conformations or patient age at the time of CT. The SVSTS and VIRIES list services were used to recruit cases. Data collected included patient DOB, gender, breed, weight, CT date, and reported diagnosis. Shunts were classified based upon (1) the shunt portal vessel(s) of origin, (2) the shunt systemic vessel(s) of insertion, and (3) any substantial portal vessels contributing to the shunt. Additionally, hepatic portal perfusion was subjectively scored between 1 (poor/none) and 5 (good/normal) based on the caliber of the intrahepatic PVs. A total of 264 CT scans were submitted from 29 institutions. Due to exclusion criteria, 33 (13%) were removed, leaving 231 CT scans to be included. Twenty-five different EHPSS anatomies were identified with five classifications accounting for 78% of all shunts (LGP [53%], LGC-post [11%], LCG [7%], LGC-pre [4%], and PC [4%]). Shunt origin involved the left gastric vein in 75% of the described classifications. Significant differences were identified among the five most common shunt types with respect to age at the time of CT scan (P = .002), breed (P < .001), and subjective portal perfusion score (P < .001). This refined anatomical classification system for feline EHPSS may enable improved understanding, treatment comparisons, and outcome prediction for cats with these anomalies.


Assuntos
Doenças do Gato , Angiografia por Tomografia Computadorizada , Veia Porta , Animais , Gatos , Angiografia por Tomografia Computadorizada/veterinária , Feminino , Masculino , Veia Porta/anormalidades , Veia Porta/diagnóstico por imagem , Doenças do Gato/diagnóstico por imagem , Sistema Porta/anormalidades , Sistema Porta/diagnóstico por imagem , Malformações Vasculares/veterinária , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/classificação
3.
Eur J Neurol ; 28(4): 1198-1209, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33185912

RESUMO

BACKGROUND AND PURPOSE: Recent data suggest that imbalances in the composition of the gut microbiota (GM) could exacerbate the progression of Parkinson disease (PD). The effects of levodopa (LD) have been poorly assessed, and those of LD-carbidopa intestinal gel (LCIG) have not been evaluated so far. The aim of this study was to identify the effect of LD and LCIG, in particular, on the GM and metabolome. METHODS: Fecal DNA samples from 107 patients with a clinical diagnosis of PD were analyzed by next-generation sequencing of the V3 and V4 regions of the 16S rRNA gene. PD patients were classified in different groups: patients on LCIG (LCIG group, n = 38) and on LD (LD group, n = 46). We also included a group of patients (n = 23) without antiparkinsonian medicaments (Naïve group). Fecal metabolic extracts were evaluated by gas chromatography mass spectrometry. RESULTS: The multivariate analysis showed a significantly higher abundance in the LCIG group of Enterobacteriaceae, Escherichia, and Serratia compared to the LD group. Compared to the Naïve group, the univariate analysis showed a reduction of Blautia and Lachnospirae in the LD group. Moreover, an increase of Proteobacteria, Enterobacteriaceae, and a reduction of Firmicutes, Lachnospiraceae, and Blautia was found in the LCIG group. No significant difference was found in the multivariate analysis of these comparisons. The LD group and LCIG group were associated with a metabolic profile linked to gut inflammation. CONCLUSIONS: Our results suggest that LD, and mostly LCIG, might significantly influence the microbiota composition and host/bacteria metabolism, acting as stressors in precipitating a specific inflammatory intestinal microenvironment, potentially related to the PD state and progression.


Assuntos
Microbioma Gastrointestinal , Doença de Parkinson , Antiparkinsonianos , Carbidopa , Combinação de Medicamentos , Géis , Humanos , Levodopa , Metaboloma , Doença de Parkinson/tratamento farmacológico , RNA Ribossômico 16S/genética
4.
J Am Anim Hosp Assoc ; 57(5)2021 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-34370856

RESUMO

An 8 mo old male Doberman pinscher was referred for investigation of persistent urinary incontinence. Physical examination revealed urine leakage and abnormal external genitalia. A computed tomography scan identified a large fluid-filled cavity extending from the caudoventral abdomen displacing the colon and urinary bladder. No retained testicles were identified. A retrograde urethrogram study found a linear communication, cranial to the pubic brim between the urethra to the fluid-filled cavity (fistula). Exploratory celiotomy was performed, and an entire female reproductive tract with a blind-ending vagina and a urethrovaginal fistula was found. En bloc gonad hysterectomy was performed, the fistula was transected, and a careful urethral reconstruction was performed. The urinary incontinence resolved immediately after surgery, and no complications were reported. Mild urinary incontinence recurred 4 days following patient discharge, and a urine bacterial culture was positive for Klebsiella spp. An antibiotic course was prescribed, and the incontinence fully resolved. Congenital urogenital abnormalities should always be considered in young animals presenting with urinary incontinence. Here, a young female pseudohermaphrodite dog with a naturally occurring congenital urethrovaginal fistula is described. Exploratory surgery was required for definitive diagnosis and surgical intervention yielded a good medium-term outcome with resolution of clinical signs.


Assuntos
Doenças do Cão , Incontinência Urinária , Anormalidades Urogenitais , Animais , Doenças do Cão/cirurgia , Cães , Feminino , Masculino , Uretra , Incontinência Urinária/etiologia , Incontinência Urinária/veterinária , Anormalidades Urogenitais/veterinária , Vagina
5.
Vet Surg ; 49(8): 1509-1516, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32949429

RESUMO

OBJECTIVE: To determine whether an anatomical difference in esophageal hiatus (EH) size exists between brachycephalic and nonbrachycephalic dogs. STUDY DESIGN: Retrospective clinical study. ANIMALS: Client-owned dogs (n = 87). METHODS: Clinical records and images of dogs that underwent computed tomography between June 2015 and September 2018 were reviewed. For the first part of the study, EH and aortic (Ao) cross-sectional surface areas were measured in brachycephalic (group 1) and nonbrachycephalic dogs of similar body size (<15 kg) without respiratory or gastroesophageal (GE) signs (group 2) by using multiplanar reconstruction. Esophageal hiatus:aortic ratio was calculated. In the second part of the study, absolute EH measurements were also compared in weight-matched (WM) dogs (8-10 kg) from groups 1 and 2. RESULTS: Mean (±SD) of EH:Ao values for group 1 (8.1 ± 2.8) were higher (P < .0001) than those for group 2 (3.7 ± 1.1). In addition, EH measurements of 20 WM dogs in group 1 were higher than those of 20 dogs in group 2 (P < .05). CONCLUSION: Esophageal hiatus cross-sectional surface area (directly and indirectly measured) in brachycephalic dogs was considerably larger than that in nonbrachycephalic dogs of generally similar body size. CLINICAL SIGNIFICANCE: Results of this study provide evidence to support the existence of a specific anatomical factor that could likely correlate to functional GE alterations (eg, regurgitation, gastroesophageal reflux, and sliding hiatal hernia) commonly seen in brachycephalic dogs.


Assuntos
Craniossinostoses/veterinária , Doenças do Cão/diagnóstico por imagem , Refluxo Gastroesofágico/veterinária , Hérnia Hiatal/veterinária , Animais , Craniossinostoses/patologia , Doenças do Cão/fisiopatologia , Cães , Refluxo Gastroesofágico/diagnóstico por imagem , Refluxo Gastroesofágico/fisiopatologia , Hérnia Hiatal/diagnóstico por imagem , Hérnia Hiatal/fisiopatologia , Refluxo Laringofaríngeo/diagnóstico por imagem , Refluxo Laringofaríngeo/fisiopatologia , Refluxo Laringofaríngeo/veterinária , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/veterinária
6.
Neurol Sci ; 37(8): 1299-303, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27120071

RESUMO

To determine, among a population with subdural hematoma (SH), whether patients affected by neurodegenerative disorders (parkinsonism and dementia) have a worse clinical outcome. We reviewed the data of patients diagnosed with fall-related SH discharged from the Departments of Neurology/Stroke unit, Neurosurgery, Intensive Care Unit at Brotzu General Hospital (Cagliari, Italy) between January 2010 and December 2013. Patients with severe traumatisms, evidence of spontaneous intracerebral bleeding or aged less than 50 were excluded. 332 patients were selected: 69 with a neurodegenerative parkinsonism or dementia (N-group), 217 with history of chronic non-neurological medical conditions with significant disability, previous falls and/or balance problems (NND-group) and 46 with a history of "minor" chronic non-neurological disorder. (NN-group). The clinical status at admission and discharge was assessed by modified Rankin Scale (mRS). The time-span between trauma and hospital admission was also calculated. At hospital admission we found a significantly longer delay in SH's diagnosis (χ (2) test p < 0.001) and a worse mRS score (Kruskal Wallis p < 0.001) in the N-group compared to both NN and NND-groups. During hospital stay we observed the lack of significant variation in mRS score in N-group (Wilcoxon test p = 0.86), in contrast with NN and NND-groups who significantly improved (Wilcoxon test p < 0.001). Our results demonstrate that the consequences of SH are more severe in the N-group compared to NN and NND-groups. The longer interval between trauma and hospital admittance plays a critical role in worsening the outcome of patients with parkinsonism and dementia compared to subjects without neurodegenerative disorders.


Assuntos
Demência/etiologia , Hematoma Subdural/complicações , Hematoma Subdural/diagnóstico , Avaliação de Resultados em Cuidados de Saúde , Transtornos Parkinsonianos/etiologia , Acidentes por Quedas , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitalização , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Alta do Paciente , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo
7.
Neurogenetics ; 16(1): 55-64, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25294124

RESUMO

Parkinson's disease (PD) is a common neurodegenerative disorder of complex aetiology. Rare, highly penetrant PD-causing mutations and common risk factors of small effect size have been identified in several genes/loci. However, these mutations and risk factors only explain a fraction of the disease burden, suggesting that additional, substantial genetic determinants remain to be found. Genetically isolated populations offer advantages for dissecting the genetic architecture of complex disorders, such as PD. We performed exome sequencing in 100 unrelated PD patients from Sardinia, a genetic isolate. SNPs absent from dbSNP129 and 1000 Genomes, shared by at least five patients, and of functional effects were genotyped in an independent Sardinian case-control sample (n = 500). Variants associated with PD with nominal p value <0.05 and those with odds ratio (OR) ≥3 were validated by Sanger sequencing and typed in a replication sample of 2965 patients and 2678 controls from Italy, Spain, and Portugal. We identified novel moderately rare variants in several genes, including SCAPER, HYDIN, UBE2H, EZR, MMRN2 and OGFOD1 that were specifically present in PD patients or enriched among them, nominating these as novel candidate risk genes for PD, although no variants achieved genome-wide significance after Bonferroni correction. Our results suggest that the genetic bases of PD are highly heterogeneous, with implications for the design of future large-scale exome or whole-genome analyses of this disease.


Assuntos
Exoma , Mutação , Doença de Parkinson/genética , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Itália/epidemiologia , Masculino , Doença de Parkinson/epidemiologia , Polimorfismo de Nucleotídeo Único , Fatores de Risco
8.
Neurol Sci ; 36(9): 1683-6, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25939726

RESUMO

Freezing of gait is a common and disabling disorder in advanced Parkinson's disease (PD). The relationship with dopaminergic medication is complex and often non-linear, thus freezing may occur even when the core parkinsonian features (tremor, rigidity and bradykinesia) appear optimally controlled. We evaluated the effect of Levodopa-carbidopa intrajejunal gel in a group of seven non-demented PD patients with prominent episodes of freezing refractory to adjustments of oral therapy. Clinical assessments were performed in the best "on" state before starting Levodopa-carbidopa intrajejunal gel, while patients were on their standard oral Levodopa (O-LD), and infusion treatment. The main outcome measures were change in freezing of gait (FOG) Questionnaire and UPDRS motor score. FOG Questionnaire and UPDRS subscores related to gait and postural stability significantly improved during Levodopa-carbidopa intrajejunal gel infusion in all patients compared to O-LD treatment. In four out of seven patients, the Levodopa-carbidopa intrajejunal gel dose was equivalent or slightly higher but in three patients was lower compared to O-LD dose recorded at baseline visit. In selected patients, Levodopa-carbidopa intrajejunal gel may improve freezing refractory to oral dopaminergic therapy.


Assuntos
Antiparkinsonianos/administração & dosagem , Carbidopa/administração & dosagem , Levodopa/administração & dosagem , Doença de Parkinson/tratamento farmacológico , Idoso , Combinação de Medicamentos , Feminino , Géis , Humanos , Itália , Jejuno , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Inquéritos e Questionários , Resultado do Tratamento
9.
J Feline Med Surg ; 26(1): 1098612X231216636, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38227337

RESUMO

OBJECTIVES: Angiosarcomas are rare malignant mesenchymal neoplasms of endothelial cell origin with a predilection to the ventral abdominal wall in cats. Larger case series describing this entity are lacking. METHODS: Two referral centre laboratory databases were searched for angiosarcoma of the ventral abdominal wall. Nine cases with a histological diagnosis were included. Immunohistochemistry (factor VIII and PROX-1 antibodies) was used to phenotype them as haemangiosarcoma or lymphangiosarcoma. RESULTS: All cats presented with a ventral abdominal mass, five of which were producing a serosanguinous discharge. Eight underwent tumour staging and pulmonary metastases were suspected in one cat (but not histologically confirmed). With histopathology alone, a diagnosis of angiosarcoma and lymphangiosarcoma was made in four and five cases, respectively. After immunohistochemistry, five cases had a haemangiosarcoma phenotype and four had a lymphangiosarcoma phenotype, including two cases of lymphangiosarcoma that were reclassified as hemangiosarcoma. Eight cats received treatment (either surgery with or without adjuvant therapies or medical management alone). Six cats were euthanased due to local disease progression. The median survival time for haemangiosarcoma was 166 days (range 137-381), and for lymphangiosarcoma it was 197 days (range 67-208). Two cats with haemangiosarcoma remained alive for a follow-up period of 329 and 580 days, respectively. CONCLUSIONS AND RELEVANCE: Feline ventral abdominal angiosarcomas are rare locally aggressive neoplasms. While histology often provides a diagnosis of angiosarcoma, immunohistochemistry is ultimately required to differentiate between haemangiosarcoma and lymphangiosarcoma phenotypes. Further studies are required to evaluate whether the different phenotypes have an impact on treatment response and outcome.


Assuntos
Parede Abdominal , Doenças do Gato , Hemangiossarcoma , Linfangiossarcoma , Sarcoma , Gatos , Animais , Hemangiossarcoma/diagnóstico , Hemangiossarcoma/terapia , Hemangiossarcoma/veterinária , Linfangiossarcoma/diagnóstico , Linfangiossarcoma/veterinária , Sarcoma/veterinária , Doenças do Gato/diagnóstico , Doenças do Gato/terapia
10.
Vet Comp Oncol ; 22(1): 12-21, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37918913

RESUMO

Due to the low frequency and the changes in diagnostic techniques and terminology during the last few years, only little clinical information is available on splenic stromal sarcoma (SSS). This multi-institutional study aimed at gathering clinical cases of SSS in dogs and investigates their clinical behaviour, as well as analyse possible clinicopathological prognostic factors, including the use of adjuvant therapy. Dogs with a histologically confirmed SSS that underwent splenectomy were retrospectively included. To be included in the study, either FFPE tissue blocks or multiple tissue sections had to be available for histopathologic and immunohistochemical revision. Clinical and pathological variables, along with adjuvant therapy data, were collected. Cumulative incidence of metastatic disease was analysed through univariate and bivariate analyses. The impact of adjuvant chemotherapy on metastasis incidence and survival was assessed, considering an estimated propensity score. A total of 32 dogs were included. Among them, 22 developed metastases with an incidence of 37.5%, 59.38%, and 65.94% at 6, 12, and 24 months, respectively. Univariate analysis identified mitotic count, total scoring, and necrosis as prognostic factors. In bivariate analysis, mitotic count remained prognostic. The administration of adjuvant chemotherapy did not have an impact on metastasis incidence or survival time. The study found that dogs with SSSs are at high risk of metastasis, although a small subgroup may experience longer survival after splenectomy. Mitotic count was the only variable having a reliable prognostic impact. Adjuvant chemotherapy did not appear to decrease the incidence of metastasis or prolong survival in these dogs.


Assuntos
Doenças do Cão , Sarcoma , Neoplasias de Tecidos Moles , Cães , Animais , Prognóstico , Estudos Retrospectivos , Doenças do Cão/diagnóstico , Doenças do Cão/cirurgia , Sarcoma/diagnóstico , Sarcoma/terapia , Sarcoma/veterinária , Baço/patologia , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/veterinária , Quimioterapia Adjuvante/veterinária
11.
Vet Comp Oncol ; 22(2): 198-203, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38327132

RESUMO

Osteosarcoma is the most common malignant primary bone cancer, but it is infrequently reported in cats. Feline appendicular osteosarcoma typically exhibits good prognosis when treated with surgery alone. A retrospective multi-institutional study was conducted to identify possible prognostic factors. Cats diagnosed with appendicular osteosarcoma were included if initial staging and follow-up information were available. Data including signalment, tumour characteristics, treatment modalities, and survival outcomes were collected and analysed. Fifty-six cats were included; the femur was the most frequently affected bone. Eight cats had distant metastasis at admission and an additional 9 developed metastatic disease during follow-up, resulting in an overall metastatic rate of 30%. Forty-nine (87.5%) cats underwent surgery, and 4 also received adjuvant chemotherapy. Among operated cats, median time to local progression (TTLP), time to distant progression and tumour-specific survival (TSS) were not reached. One- and 2-year survival rates were 66% and 55%, respectively. Seven (12.5%) cats received no treatment; 1- and 2-year survival rates were 25% and 0%, respectively. Operated cats had significantly longer TTLP (P < .001) and TSS (P = .001) compared with non-operated cats. Among operated cats, young age negatively impacted local tumour progression, while the presence of distant metastasis at diagnosis was associated with a higher risk of tumour-related death. This study reaffirms the good prognosis for cats with appendicular osteosarcoma undergoing surgery, but sheds light on some additional factors to consider. Accurate initial staging is recommended, as the metastatic rate may exceed many previous estimations. Surgery substantially extends survival time, whereas the role of chemotherapy remains uncertain.


Assuntos
Doenças do Gato , Osteossarcoma , Animais , Osteossarcoma/veterinária , Osteossarcoma/terapia , Osteossarcoma/patologia , Gatos , Doenças do Gato/patologia , Estudos Retrospectivos , Masculino , Feminino , Neoplasias Ósseas/veterinária , Neoplasias Ósseas/patologia , Neoplasias do Apêndice/veterinária , Neoplasias do Apêndice/patologia , Itália
12.
Mov Disord ; 28(9): 1295-8, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23568243

RESUMO

BACKGROUND: Psychogenic (or functional) movement disorders (PMDs) are considered sporadic. Despite the growing literature describing the clinical features and the natural history of sporadic cases with PMDs, their occurrence in familial clusters is not reported. METHODS: We identified 10 patients from 5 families affected by PMDs. In this report, we describe the clinical characteristics along with videos and long-term follow-up of these patients. RESULTS: Clinical clues from the history and signs suggesting a functional origin of the symptoms in these patients with familial PMD were similar to those identified in sporadic cases. The phenomenology of the PMD was similar in the affected members of the same family. CONCLUSIONS: We wish to highlight that a positive family history does not necessarily imply an organic disorder. When a positive family history for a condition is reported by a patient with PMD, examination of these further affected members may be needed and may identify further family members suffering from PMDs. A positive family history of PMDs may be an additional risk factor for developing PMDs. © 2013 Movement Disorder Society.


Assuntos
Saúde da Família , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/psicologia , Transtornos Psicofisiológicos/diagnóstico , Adulto , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Adulto Jovem
13.
Neurol Sci ; 34(5): 683-7, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-22678179

RESUMO

The Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has been available in English since 2008. As part of this process, the MDS-UPDRS organizing team developed guidelines for development of official non-English translations. We present here the formal process for completing officially approved non-English versions of the MDS-UPDRS and specifically focus on the first of these versions in Italian. The MDS-UPDRS was translated into Italian and tested in 377 native-Italian speaking PD patients. Confirmatory and exploratory factor analyses determined whether the factor structure for the English-language MDS-UPDRS could be confirmed in data collected using the Italian translation. To be designated an 'Official MDS translation,' the Comparative Fit Index (CFI) had to be ≥0.90 relative to the English-language version. For all four parts of the Italian MDS-UPDRS, the CFI, in comparison with the English-language data, was ≥0.94. Exploratory factor analyses revealed some differences between the two datasets, however these differences were considered to be within an acceptable range. The Italian version of the MDS-UPDRS reaches the criterion to be designated as an Official Translation and is now available for use. This protocol will serve as outline for further validation of this in multiple languages.


Assuntos
Transtornos dos Movimentos , Exame Neurológico/métodos , Exame Neurológico/normas , Doença de Parkinson/diagnóstico , Sociedades Médicas/normas , Avaliação da Deficiência , Análise Fatorial , Feminino , Humanos , Itália , Masculino , Testes Neuropsicológicos , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Traduções
14.
Vet Comp Oncol ; 21(2): 191-199, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36635958

RESUMO

There is scant literature on primary nonhematopoietic malignant liver tumours (PMLT) in cats. In this retrospective study, medical data of 40 cats diagnosed with PMLT were reviewed over a period of 22 years (2000-2021). The most frequent epithelial tumours were hepatocellular (42.5%) and bile duct carcinomas (32.5%), only six (15%) cats had mesenchymal tumours. The median age was 13 years and clinical signs commonly included ano-/hyporexia (62.5%), apathy/lethargy (52.5%), weight loss (42.5%) and vomiting (35%). At initial diagnosis, metastases were confirmed in 1 (2.5%) and suspected in three (7.5%) cats. Massive was the most frequent morphology (75%). Most intrahepatic tumours were left-sided (54.2%) with the left medial lobe being primarily affected (25%). Extrahepatic tumours were rare (5%). In 34 (85%) cats, liver lobectomy was performed (surgery group), four (10%) were treated palliatively (non-surgery group), and two (5%) received no treatment. Intraoperative complications occurred in 11.8% with four (15.4%) postoperative deaths. Recurrence was detected in 28.6% at a median of 151 days (range, 79-684 days), while postoperative metastases were suspected in 21.4% at a median of 186 days (range, 79-479 days). The median survival time (MST) was significantly longer in cats of the surgery group (375 days) than in the non-surgery group (16 days) (p = .002). MST was 868 days for hepatocellular compared to 270 days for bile duct carcinomas (p = .06). In summary, liver lobectomy is associated with prolonged survival times and good prognosis in cats with hepatocellular, and an acceptable prognosis in cats with bile duct carcinoma.


Assuntos
Carcinoma , Doenças do Gato , Neoplasias Hepáticas , Gatos , Animais , Estudos Retrospectivos , Prognóstico , Redução de Peso , Neoplasias Hepáticas/cirurgia , Neoplasias Hepáticas/veterinária , Carcinoma/veterinária , Doenças do Gato/diagnóstico , Doenças do Gato/cirurgia
15.
J Feline Med Surg ; 24(8): 754-758, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34542357

RESUMO

OBJECTIVES: The aim of this retrospective observational study was to describe the clinical presentation, treatment and outcome of cats with sialocoele. METHODS: Clinical records from seven referral hospitals were retrospectively searched to identify cats with sialocoele between 2007 and 2021. RESULTS: Nineteen cats were identified. The most common clinical signs were ptyalism, dysphagia and anorexia. Localisation of the sialocoele was cervical (n = 6), sublingual (n = 6), cervical/sublingual (n = 3), facial (n = 2), cervical/pharyngeal (n = 1) and zygomatic (n = 1). The affected salivary glands were mandibular-sublingual (n = 15), mandibular-sublingual/parotid (n = 1), zygomatic/parotid (n = 1) and parotid (n = 2). The aetiology of the sialocoele was traumatic in two cases, neoplastic in one cat and unknown in 16 cats. Sialoadenectomy was performed in 11 cats. Other treatments included ranula marsupialisation (n = 3), needle drainage (n = 2), single stab incision (n = 2) and parotid duct ligation (n = 1). The median follow-up time was 399 days (range 15-1460). Postoperative seroma was the only complication observed in one cat. No recurrence was reported. CONCLUSIONS AND RELEVANCE: Feline salivary sialocoele are relatively rare and have a good prognosis. They can be managed successfully with sialoadenectomy; however, a more conservative approach can be used with appropriate case selection.


Assuntos
Doenças do Gato , Ductos Salivares , Animais , Doenças do Gato/diagnóstico , Doenças do Gato/cirurgia , Gatos , Glândula Parótida/cirurgia , Complicações Pós-Operatórias/veterinária , Estudos Retrospectivos , Ductos Salivares/cirurgia , Resultado do Tratamento
16.
Vet Comp Oncol ; 20(3): 669-678, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35420253

RESUMO

The aim of this study was to determine the outcome of dogs with soft tissue sarcoma (STS) within the region of the ischiatic tuberosity (ITSTS) treated surgically. This was a multi-institutional retrospective study. Fifty-two dogs met the inclusion criteria, which were: histologically confirmed STS in the region of the IT treated with surgical resection between March 1st, 2009 and March 1st, 2021 with a minimum follow-up time of 6 months. Data collected included patient signalment, preoperative diagnostics, surgical intent/method, surgical complications, histopathology, margins, outcome and cause of death. Statistical analyses were performed to determine significant factors in the treatment and prognosis of ITSTS. Overall survival time (OST) and disease progression were negatively associated with tumour grade, while recurrence was positively associated with grade and incomplete margins. Of the 52 included dogs, there were 24 grade I, 20 grade II and 7 grade III tumours. Forty dogs had reported histopathologic margins of which 26 were reported to be complete and 14 were incomplete. OST and progression-free survival was not reached for tumours graded as I or II and was 255 and 268 days respectively, for grade III. Median time to recurrence was not reached for tumours excised with complete margins and was 398 days for those with incomplete margins. The surgical complication rate was 25%. ITSTS was not found to be a unique clinical entity in dogs as tumour behavior, treatment recommendations, and prognosis were similar to STS in other locations, with overall outcome and prognosis influenced by histologic grade and margins. While surgical complications were common, none resulted in significant morbidity or mortality.


Assuntos
Doenças do Cão , Sarcoma , Neoplasias de Tecidos Moles , Oncologia Cirúrgica , Animais , Doenças do Cão/patologia , Cães , Margens de Excisão , Recidiva Local de Neoplasia/veterinária , Estudos Retrospectivos , Sarcoma/cirurgia , Sarcoma/veterinária , Sociedades Veterinárias , Neoplasias de Tecidos Moles/cirurgia , Neoplasias de Tecidos Moles/veterinária , Resultado do Tratamento
17.
Brain Commun ; 4(6): fcac276, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36483457

RESUMO

KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability and short stature. Disease onset occurs typically before 10 years of age. We report the clinical and genetic findings of a series of subjects affected by adult-onset dystonia, hearing loss or intellectual disability carrying rare heterozygous KMT2B variants. Twelve cases from five unrelated families carrying four rare KMT2B missense variants predicted to impact protein function are described. Seven affected subjects presented with adult-onset focal or segmental dystonia, three developed isolated progressive hearing loss, and one displayed intellectual disability and short stature. Genome-wide DNA methylation profiling allowed to discriminate these adult-onset dystonia cases from controls and early-onset DYT-KMT2B patients. These findings document the relevance of KMT2B variants as a potential genetic determinant of adult-onset dystonia and prompt to further characterize KMT2B carriers investigating non-dystonic features.

18.
Neurogenetics ; 12(3): 203-9, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21667065

RESUMO

Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson's disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate. We studied 327 consecutive Sardinian patients with clinically diagnosed PD (88 familial, 239 sporadic) and 578 Sardinian controls. One family with FTLD and parkinsonism was also included. The p.Ala382Thr heterozygous mutation was detected in eight unrelated PD patients (2.5%). The three patients from the FTLD/parkinsonism family also carried this mutation. Within the control group, there were three heterozygous mutation carriers. During follow-up, one of these individuals developed motoneuron disease and another, a rapidly progressive dementia; the third remains healthy at the age of 79 but two close relatives developed motoneuron disease and dementia. The eight PD patients carrying the p.Ala382Thr mutation had all sporadic disease presentation. Their average onset age was 70.0 years (SD 9.4, range 51-79), which is later but not significantly different from that of the patients who did not carry this mutation. In conclusion, we expand the clinical spectrum associated with TARDBP mutations to FTLD with parkinsonism without motoneuron disease and to clinically definite PD. The TDP-43 protein might be directly involved in a broader neurodegenerative spectrum, including not only motoneuron disease and FTLD but also PD.


Assuntos
Proteínas de Ligação a DNA/genética , Mutação de Sentido Incorreto , Doença de Parkinson/genética , Idoso , Alanina/genética , Substituição de Aminoácidos/fisiologia , Estudos de Casos e Controles , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/fisiologia , Degeneração Neural/genética , Doença de Parkinson/epidemiologia , Treonina/genética
19.
Haematologica ; 96(11): 1708-11, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21791473

RESUMO

Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of deferiprone for reducing cerebral iron accumulation in neurodegeneration with brain iron accumulation. Four patients with genetically-confirmed pantothenate kinase-associated neurodegeneration, and 2 with parkinsonism and focal dystonia, but inconclusive genetic tests, received 15 mg/kg deferiprone bid. Magnetic resonance imaging and neurological examinations were conducted at baseline, six and 12 months. Chelation treatment caused no apparent hematologic or neurological side effects. Magnetic resonance imaging revealed decreased iron accumulation in the globus pallidus of 2 patients (one with pantothenate kinase-associated neurodegeneration). Clinical rating scales and blinded video rating evaluations documented mild-to-moderate motor improvement in 3 patients (2 with pantothenate kinase-associated neurodegeneration). These results underline the safety and tolerability of deferiprone, and suggest that chelating treatment might be effective in improving neurological manifestations associated with iron accumulation. (Clinicaltrials.gov Identifier: NTC00907283).


Assuntos
Quelantes de Ferro/administração & dosagem , Distúrbios do Metabolismo do Ferro/tratamento farmacológico , Ferro/metabolismo , Doenças Neurodegenerativas/tratamento farmacológico , Piridonas/administração & dosagem , Adulto , Idoso , Deferiprona , Feminino , Humanos , Quelantes de Ferro/efeitos adversos , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/diagnóstico por imagem , Distúrbios do Metabolismo do Ferro/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/complicações , Doenças Neurodegenerativas/diagnóstico por imagem , Doenças Neurodegenerativas/metabolismo , Projetos Piloto , Piridonas/efeitos adversos , Radiografia
20.
Front Vet Sci ; 8: 645982, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33996973

RESUMO

In dogs, digit squamous cell carcinoma (SCC) is uncommon. Clinical signs are frequently underestimated, leading to a diagnostic delay. The purpose of this retrospective study was to report our experience regarding the clinical presentation, diagnostic work-up, treatment and outcome of 79 client-owned dogs with SCC of the digit. The greatest majority (84.8%) of dogs was dark-coated. Schnauzers represented approximately one third of the study population, and had a poorer outcome compared with other breeds. The majority of SCCs occurred in the front limbs (61%), and bone lysis was frequently observed (92.4%). Approximately 9% of dogs had involvement of multiple digits, and this was associated with a shorter time to progression (TTP; P = 0.047). Similarly, a duration of clinical signs >90 days was associated with a shorter TTP (P = 0.02). Regional lymph node metastases were documented in 17.7% of dogs at admission and were significantly associated with tumor-related death (P < 0.001). At presentation, none of the dogs had evidence of distant metastasis. Digit amputation achieved adequate local tumor control in the majority of cases. Adjuvant chemotherapy and radiation therapy were carried out in 21.5% of cases, with uncertain benefit. Due to the relatively non-aggressive clinical behavior of digit SCC, chemotherapy should only be offered in the case of metastatic disease. Approximately one fourth of dogs developed de novo SCCs during the follow-up. Careful examination of the digits should be encouraged in breeds considered at high risk and in dogs with a previous history of digital SCC.

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