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1.
Orthod Craniofac Res ; 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39049717

RESUMO

BACKGROUND: Non-syndromic orofacial cleft (NSOC) is a complex phenotype, involving multiple genetic and environmental factors. Association studies exploring the genetic susceptibility to this prevalent oral malformation show variability of results in different populations. Using a candidate gene approach, we aimed to verify the role of four single-nucleotide polymorphisms (SNPs) in the susceptibility to NSOC in Portuguese patients. METHODS: A total of 254 non-consanguineous individuals of Portuguese were recruited, including 120 patients with NSOC and 134 controls. About 92% of these patients had non-syndromic cleft lip with or without cleft palate (NSCL/P) and 8% had only non-syndromic cleft palate (NSCP). SNPs in the MTHFR (rs1801133), IRF6 (rs642961), PAX7 (rs742071) and TP63 (rs9332461) genes were studied, using a real-time approach with TaqMan probes. Allelic, genotypic, dominant, recessive and over-dominant models were explored using a chi-squared test. Adjusted p-value was calculated for multiple comparisons using the Benjamini-Hochberg false discovery rate (FDR). RESULTS: All SNPs were in Hardy-Weinberg equilibrium. For MTHFR, IRF6, and PAX7 SNPs, no statistically significant difference was highlighted for any of the evaluated models. For TP63 SNP, data fitted an over-dominant model, with a protective effect for heterozygotes (OR 1.897; CI 95% [1.144-3.147]; p < .016, when comparing controls vs. cases), but significance was lost when applying adjusted p-value for multiple comparisons (4 × 5 tests). CONCLUSION: In this Portuguese population, there was no evidence of an association between the evaluated SNPs and NSOC. For TP63 SNP, the possibility of a protective effect of heterozygotes should be further investigated.

2.
Vet Ophthalmol ; 26(2): 135-144, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36536509

RESUMO

OBJECTIVE: There is limited knowledge regarding the safety and accuracy of ultrasound-guided retrobulbar nerve blocks in horses. The aim of this study was to compare these parameters between blind and ultrasound-guided injection techniques for the dorsal retrobulbar nerve block in horses. METHODS: Equine cadaver heads were used to inject the retrobulbar space with contrast medium (CM). Injections were performed either blindly based on anatomic landmarks (blind group, n = 44) or under ultrasonographic guidance (US-group, n = 44), equally divided between an experienced and unexperienced operator. Needle position and distribution of CM were assessed with computed tomography imaging and evaluated by a board-certified veterinary diagnostic imager blinded to the technique. Safety and accuracy of both techniques were compared. RESULTS: Ocular penetration was observed in two cases (n = 2/44) in the blind group but not in the US group (n = 0/44). No intrathecal, intraneural, or intravascular injections were seen in either group. Safety was significantly improved in the US group (p = .026). There was no statistically significant difference between the groups regarding the accuracy of the injection. Excellent accuracy was achieved more often with the ultrasound-guided technique (n = 11/22) than with the blind technique (n = 7/22) when performed by the unexperienced operator, but this difference was not statistically significant. CONCLUSION: To prevent globe-threatening complications and improve the safety of the injection, we recommend using the ultrasound-guided injection technique for the dorsal retrobulbar nerve block.


Assuntos
Doenças dos Cavalos , Bloqueio Nervoso , Animais , Cavalos , Ultrassonografia de Intervenção/veterinária , Ultrassonografia de Intervenção/métodos , Bloqueio Nervoso/veterinária , Bloqueio Nervoso/métodos , Ultrassonografia/veterinária , Órbita/diagnóstico por imagem , Cadáver
3.
J Pers Med ; 12(5)2022 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-35629211

RESUMO

Drug-induced liver injury (DILI) is an unpredictable and feared side effect of antituberculosis treatment (AT). The present study aimed to identify clinical and genetic variables associated with susceptibility to AT-associated hepatotoxicity in patients with pulmonary tuberculosis treated with a standard protocol. Of 233 patients enrolled, 90% prospectively, 103 developed liver injury: 37 with mild and 66 with severe phenotype (DILI). All patients with mild hepatitis had a RUCAM score ≥4 and all patients with DILI had a RUCAM score ≥ 6. Eight clinical variables and variants in six candidate genes were assessed. A logistic multivariate regression analysis identified four risk factors for AT-DILI: age ≥ 55 years (OR:3.67; 95% CI:1.82−7.41; p < 0.001), concomitant medication with other hepatotoxic drugs (OR:2.54; 95% CI:1.23−5.26; p = 0.012), NAT2 slow acetylator status (OR:2.46; 95% CI:1.25−4.84; p = 0.009), and carriers of p.Val444Ala variant for ABCB11 gene (OR:2.06; 95%CI:1.02−4.17; p = 0.044). The statistical model explains 24.9% of the susceptibility to AT-DILI, with an 8.9 times difference between patients in the highest and in the lowest quartiles of risk scores. This study sustains the complex architecture of AT-DILI. Prospective studies should evaluate the benefit of NAT2 and ABCB11 genotyping in AT personalization, particularly in patients over 55 years.

4.
Vet Rec ; 190(2): e780, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34352128

RESUMO

BACKGROUND: Computed tomography (CT) and ultrasonography (US) may be used to assist staging in dogs with lymphoma. The imaging features of splenic and hepatic infiltration have never been directly compared in the same population of dogs. METHODS: The aim of this retrospective study was to describe and compare the CT and US findings of the liver and spleen in dogs with confirmed hepatic and/or splenic lymphoma and compare imaging and cytological diagnoses. RESULTS: CT and US studies of 18 dogs with multicentric lymphoma involving the liver and/or the spleen were retrospectively evaluated. US detected abnormalities more frequently than CT in the spleen with lymphoma, whereas CT detected abnormalities more frequently in the liver with lymphoma. The two diagnostic imaging modalities often disagreed in the findings, including the imaging classification of the organ as normal or abnormal. CONCLUSION: US and CT often disagree in the imaging findings present in hepatic and splenic lymphoma. The results of this study suggest that cytologic evaluation of both the liver and spleen is advisable regardless of their US or CT appearance for detection of lymphoma.


Assuntos
Doenças do Cão , Linfoma , Neoplasias Esplênicas , Animais , Doenças do Cão/diagnóstico por imagem , Cães , Fígado/diagnóstico por imagem , Linfoma/diagnóstico por imagem , Linfoma/veterinária , Estudos Retrospectivos , Baço/diagnóstico por imagem , Neoplasias Esplênicas/diagnóstico por imagem , Neoplasias Esplênicas/veterinária , Tomografia Computadorizada por Raios X/veterinária , Ultrassonografia/veterinária
5.
Vet Rec ; 190(1): e199, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33899941

RESUMO

BACKGROUND: Abdominal ultrasound is frequently used to detect non-perforated gastroduodenal ulcers in dogs. Studies assessing the diagnostic utility of abdominal ultrasound for the detection of non-perforated gastroduodenal ulcers have yielded mixed results. No studies to date have investigated the effects of patient bodyweight, breed, sex, age, ulcer aetiology (neoplastic or inflammatory) or location on the diagnostic accuracy of abdominal ultrasound. METHODS: Retrospective, multicentre study to evaluate the diagnostic utility of abdominal ultrasonography for the diagnosis of non-perforated gastroduodenal ulceration in dogs. RESULTS: Sixty-one dogs met the inclusion criteria. Ulcers were detected during ultrasound examination in 18 of 61 dogs, yielding a sensitivity of 29.5% (95% confidence interval 18.8%-42.7%). Ulcers in the pyloric region were detected more frequently than those in the duodenum; however, location was not significantly associated with the ability of ultrasound to detect lesions (p = 0.41). No associations were identified between the ability of ultrasound to detect an ulcer and patient bodyweight (p = 0.45), breed (p = 0.98), sex (p = 0.90), age (p = 0.94), and neoplastic versus inflammatory nature of ulcerative lesions (p = 0.93). CONCLUSION: The diagnostic utility of ultrasound as the sole modality for the detection of non-perforated gastroduodenal mucosal ulceration is poor. The authors therefore recommend the use of additional modalities when ulcerative lesions are suspected.


Assuntos
Doenças do Cão , Úlcera Gástrica , Animais , Doenças do Cão/diagnóstico por imagem , Cães , Estudos Retrospectivos , Úlcera Gástrica/diagnóstico por imagem , Úlcera Gástrica/veterinária , Ultrassonografia/veterinária
7.
J Am Vet Med Assoc ; 253(6): 757-762, 2018 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-30179097

RESUMO

OBJECTIVE To characterize CT findings in dogs with a presumptive diagnosis of chronic bronchitis, estimate the accuracy of thoracic CT for the diagnosis of chronic bronchitis in dogs, and determine interobserver agreement for this method. DESIGN Retrospective case-control and cross-sectional study. ANIMALS 26 dogs with confirmed chronic bronchitis and 20 control dogs with unremarkable results of thoracic CT and no recorded history of cough. PROCEDURES Thoracic CT images of all dogs were interpreted for signs of chronic bronchitis by 2 observers who used specific criteria; observers also used the images to compute the bronchial wall thickness-to-pulmonary artery diameter (BWPA) ratio of the cranial lung lobes. Interobserver agreement was assessed for both diagnostic approaches. Performance of thoracic CT and the BWPA ratio specifically in the diagnosis of chronic bronchitis were evaluated, with the final diagnosis made by the attending internist as the reference standard. Associations between independent variables and the BWPA ratio for all dogs were assessed by linear regression. RESULTS Accuracy of thoracic CT examination for the diagnosis of chronic bronchitis was 57%, sensitivity was 46%, and specificity was 90%. Interobserver agreement was moderate (κ = 0.50). The BWPA ratio had poor accuracy for discriminating dogs with chronic bronchitis from control dogs. Linear regression revealed that as dog body weight increased, BWPA ratios for the left and right cranial lung lobes decreased slightly but significantly. CONCLUSIONS AND CLINICAL RELEVANCE These results suggested that thoracic CT and the associated BWPA ratio have limited value in the diagnosis of chronic bronchitis in dogs.


Assuntos
Bronquite Crônica/veterinária , Doenças do Cão/diagnóstico por imagem , Animais , Bronquite Crônica/diagnóstico por imagem , Estudos de Casos e Controles , Estudos Transversais , Cães , Feminino , Masculino , Variações Dependentes do Observador , Estudos Retrospectivos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/veterinária
8.
Vet Clin Pathol ; 46(2): 337-343, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28370186

RESUMO

A 10-year-old, female spayed mixed-breed or cross-bred dog was referred to the Small Animal Teaching Hospital of the University of Liverpool due to tachypnea, dyspnea, and pleural effusion not responding to diuretics and antibiotics. The chest was drained and cytology of the pleural fluid was consistent with a modified transudate with presence of atypical cells initially attributed to mesothelial hyperplasia and dysplasia. Computed tomography detected, in addition to the bilateral pleural effusion, diffuse pleural thickening, multiple pleural and pulmonary nodules, and a mineralized and lytic mass in the left scapula. Imaging findings were suggestive of a primary bone tumor with intrathoracic metastasis. Cytology of the left scapular and pleural masses revealed a malignant neoplasm highly suggestive of osteosarcoma. The diagnosis was confirmed by demonstration of a positive cytochemical reaction for alkaline phosphatase on prestained cytology slides. This finding prompted review of the initial interpretation of the pleural effusion cytology. The presence of neoplastic osteoblasts in the thoracic fluid was identified by a combination of cytochemistry, cell pellet immunohistochemistry, and transmission electron microscopy findings. In this report, a multidisciplinary integrated diagnostic approach was used to diagnose and confirm a neoplastic pleural effusion due to osteosarcoma metastasis in a dog.


Assuntos
Neoplasias Ósseas/veterinária , Doenças do Gato/diagnóstico , Osteossarcoma/veterinária , Derrame Pleural Maligno/veterinária , Escápula , Animais , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Doenças do Gato/patologia , Gatos , Cães , Feminino , Osteossarcoma/diagnóstico , Osteossarcoma/patologia , Derrame Pleural Maligno/diagnóstico , Derrame Pleural Maligno/etiologia , Derrame Pleural Maligno/patologia , Escápula/patologia , Neoplasias Torácicas/secundário , Neoplasias Torácicas/veterinária , Tomografia Computadorizada por Raios X/veterinária
9.
Vet Radiol Ultrasound ; 56(1): 33-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25124052

RESUMO

Eosinophilic bronchopneumopathy is a disease characterized by the infiltration of the lung and bronchial mucosa by eosinophils. The aim of the present study was to describe the CT findings in a large series of dogs with confirmed diagnosis of eosinophilic bronchopneumopathy. Computed tomographic scans of 15 dogs with confirmed diagnosis of eosinophilic bronchopneumopathy were evaluated retrospectively by two boarded radiologists who reached a consensus. Abnormalities were identified in 14/15 (93%) dogs, including pulmonary parenchymal abnormalities in 14/15 (93%) dogs, bronchial wall thickening in 13 (87%) dogs, which was considered marked in eight (53%), plugging of the bronchial lumen by mucus/debris in 11 (73%) dogs, and bronchiectasis in nine (60%) dogs. Pulmonary nodules were identified in 5/15 (33%) dogs including one dog with a mass. All dogs with a nodular lung pattern had additional abnormalities. Lymphadenopathy was present in 10 dogs (67%). Lesions associated with eosinophilic bronchopneumopathy are variable and heterogeneous and encompass a wider variety of computed tomographic features than reported previously. Computed tomographic images were abnormal in the majority of affected dogs, hence CT is a useful modality to characterize the nature and distribution of thoracic lesions in dogs with eosinophilic bronchopneumopathy.


Assuntos
Broncopatias/veterinária , Doenças do Cão/diagnóstico por imagem , Eosinofilia/veterinária , Eosinofilia Pulmonar/veterinária , Tomografia Computadorizada por Raios X/veterinária , Animais , Broncopatias/diagnóstico por imagem , Bronquiectasia/diagnóstico por imagem , Bronquiectasia/veterinária , Líquido da Lavagem Broncoalveolar/citologia , Tosse/veterinária , Cães , Eosinofilia/diagnóstico por imagem , Feminino , Pulmão/anormalidades , Pulmão/diagnóstico por imagem , Doenças Linfáticas/diagnóstico por imagem , Doenças Linfáticas/veterinária , Masculino , Nódulos Pulmonares Múltiplos/diagnóstico por imagem , Nódulos Pulmonares Múltiplos/veterinária , Eosinofilia Pulmonar/diagnóstico por imagem , Estudos Retrospectivos
10.
Rev Port Pneumol ; 11(2): 111-33, 2005.
Artigo em Inglês, Português | MEDLINE | ID: mdl-15947857

RESUMO

Sarcoidosis is a systemic disease of unknown aetiology, morphologically characterized by well-formed epithelioid granulomas, which show little or no central necrosis. These may be present in any organ or tissue. The lung is the most frequently and prominently involved target. The granuloma is often very sharply demarcated from the adjacent tissue and is surrounded by a mantle of lymphocytes, which mediate lysis of target cells by various mechanisms, including exocytosis of lytic proteins, perforins and granzymes. Sarcoidosis laboratorial diagnosis is usually made by SACE and Lisozyme dosages. The granzymes A and B could be two other markers of the disease, since the sarcoidosis granuloma is rich in cytotoxic and NK cells. An ELISA Kit was used to measure Granzyme A and B in serum of a normal control group (NC) (n=30), and in two groups with lung pathology: one without sarcoidosis, disease control (DC) (n=21) and other with sarcoidosis (S) (n=11). Our results showed that SACE activity is significantly augmented in S group comparing with NC and DC, respectively: 82,6+/-32,7/31,9+/-17,8 - p=0,00017 and 82,6+/-32,7/31,9+/-17,8 - p=0,00024. Lisozyme activity is significantly augmented in S and DC groups comparing with NC. Granzyme B showed a significant decrease in DC and S groups comparing with NC. Granzyme A showed a significant decrease between S/NC groups. Our results suggest that the decrease of Granzyme A and B in sarcoidotic patients could be related to an ineffective inflammatory local response related to the formation of sarcoidosis granulomas. More studies are needed, particularly in BAL.


Assuntos
Sarcoidose Pulmonar/sangue , Serina Endopeptidases/sangue , Linfócitos T Citotóxicos , Adolescente , Adulto , Feminino , Granzimas , Humanos , Masculino , Sarcoidose Pulmonar/enzimologia , Linfócitos T Citotóxicos/enzimologia
11.
Pathophysiology ; 11(3): 147-152, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15561511

RESUMO

The prevention of hepatitis B is important, since it is responsible for significant morbidity and mortality around the world. Unfortunately, hepatitis B vaccine does not always induce protective immunity. The lack of immune response to vaccine (non-responders) can depend on individual characteristics. The objective of this study was to correlate the CD26/DPPIV cellular expression and DPPIV serum activity with HBV vaccine response and its possible role as an indicator of immune competence acquisition. We also determined the cellular expression of CD3, CD19, CD56 and CD25 in peripheral blood T lymphocytes. Blood samples were obtained from 28 healthy human volunteers who were enrolled with a vaccination program. There were "responders" (RM = 13) and "non-responders" (NRM = 15), after vaccination. The lymphocyte populations were identified by flow cytometry. DPPIV serum activity was measured fluorimetrically. CD26 expression in responders (55.9 +/- 7.7%) versus in non-responders (51.9 +/- 7.0%) did not show a significant difference. The DPPIV serum activity in responders compared to in non-responder subgroup (59.9 +/- 8.4/50.3 +/- 10.6U/L) showed, however, a significant difference (P < 0.05). The expression of CD3, CD19 and CD56 on peripheral lymphocytes was similar between responders and non-responders. The expression of CD3CD26 (52.2 +/- 8.6%) and CD3CD25 (10.9 +/- 3.8%) in responders versus the expression of CD3CD26 (48.0 +/- 5.7%) and CD3CD25 (8 +/- 4.6%) in non-responders did not show statistically significant difference. CD25 referred as a marker of T lymphocyte activation was increased in responders (15.8 +/- 4.5%) versus in non-responders (10.1 +/- 4.8%), showing a significant difference (P = 0.003). It was, however, impossible to demonstrate an increase in CD3CD25 and CD3CD26 in the responder subgroup. This suggests that different lymphocyte subsets other than T cells are implicated in the response to hepatitis B vaccination.

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