Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.

OBJECTIVE: The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHODS: The six indicators are: (1) congenital anomaly perinatal mortality, (2) congenital anomaly prenatal diagnosis prevalence, (3) congenital anomaly termination of pregnancy, (4) Down syndrome livebirth prevalence, (5) congenital anomaly pediatric surgery, and (6) neural tube defects (NTD) total prevalence. Data presented for this report pertained to all cases (livebirths, fetal deaths, or stillbirths after 20 weeks of gestation and terminations of pregnancy for fetal anomaly [TOPFA]) of congenital anomaly from 27 full member registries of EUROCAT that could provide data for at least 3 years during the period 2004 to 2008. Prevalence of anomalies, prenatal diagnosis, TOPFA, pediatric surgery, and perinatal mortality were calculated per 1000 births. RESULTS: The overall perinatal mortality was approximately 1.0 per 1000 births for EUROCAT registries with almost half due to fetal and the other half due to first week deaths. There were wide variations in perinatal mortality across the registries with the highest rates observed in Dublin and Malta, registries in countries where TOPFA are illegal, and in Ukraine. The overall perinatal mortality across EUROCAT registries slightly decreased between 2004 and 2008 due to a decrease in first week deaths. The prevalence of TOPFA was fairly stable at about 4 per 1000 births. There were variations in livebirth prevalence of cases typically requiring surgery across the registries; however, for most registries this prevalence was between 3 and 5 per 1000 births. Prevalence of NTD decreased by about 10% from 1.05 in 2004 to 0.94 per 1000 in 2008. CONCLUSION: It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarized to policy makers, the need for accurate data from registries emphasized, the need for primary prevention and treatment services highlighted, and the impact of current services measured.

Extensor carpi ulnaris (ECU) subsheath: Normal MRI appearance and findings in athletic injuries : 40

Purpose: First, to report ECU subsheath's normal MRI appearance and the findings in athletic injuries. Second, to determine the best MRI sequence for diagnosis. Methods and materials: Sixteen patients (13 males, 3 females, mean age 30.3 years) with ECU subsheath's athletic injuries sustained between January 2003 and June 2009 were retrospectively reviewed. Wrist MRI studies were performed on 1.5-T units and consisted of at least transverse T1 and STIR sequences in pronation, and FS Gd T1 in pronation and supination. Two radiologists assessed the following items, in consensus: injury type (A to C according to Inoue), ECU tendon stability, and associated lesions (ulnar head oedema, extensor retinaculum injury, ECU tendinosis and tenosynovitis). Then, each reader independently rated the sequences' diagnostic value: 0 = questionable, 1 = suggestive, 2 = certain. Follow-up studies were present in 8 patients. ECU subsheath's normal visibility (medial, central and lateral parts) was retrospectively evaluated in 30 consecutive control MRI studies. Results: FS Gd T1 sequences in supination (1.63) and pronation (1.59) were the most valuable for diagnosis, compared to STIR (1.22) and T1 (1). The study group included 9 type A, 1 type B and 6 type C injuries. There were trends towards diminution in pouches' size, signal intensity and enhancement in follow-up studies, along with tendon stabilization within the ulnar groove. In control studies, ECU subsheath's visibility in medial, central and lateral parts were noted in 66.7-80%, 63.3-80% and 30-50% respectively. Conclusion: ECU subsheath's athletic injuries are visible on 1.5-T MRI studies. FS Gd T1 sequences in supination and pronation are the most valuable.

Nouveautés dans l'ostéogenèse imparfaite: de la recherche à la prise en charge multidisciplinaire [News in osteogenesis imperfecta: from research to clinical management]

Osteogenesis imperfecta (OI) is a rare genetic disease. Today we are able to propose an adapted and efficient management to the patients with this rare disorder (and their families) thanks to a strong collaboration of clinicians and researchers. Recent knowledge regarding the genetics of OI permits an accurate diagnosis of the specific type of OI and its own molecular mechanism, a genetic counseling for family planning and prenatal diagnosis, and in addition more targeted therapeutic options. A specific support with re-education for patients with OI is necessary and efficient. To optimize patient care, a multidisciplinary consultation is proposed at the CHUV, moreover a web site is available for patients, families and therapists: www.infomaladiesrares.ch

Évaluation de l'impact clinique et économique du développement d'un traitement pour la schizophrénie

Contexte : Les stratégies pharmacologiques pour traiter la schizophrénie reçoivent une attention croissante due au développement de nouvelles pharmacothérapies plus efficaces, mieux tolérées mais plus coûteuses. La schizophrénie est une maladie chronique présentant différents états spécifiques et définis par leur sévérité. Objectifs : Ce programme de recherche vise à: 1) Évaluer les facteurs associés au risque d'être dans un état spécifique de la schizophrénie, afin de construire les fonctions de risque de la modélisation du cours naturel de la schizophrénie; 2) Développer et valider un modèle de Markov avec microsimulations de Monte-Carlo, afin de simuler l'évolution naturelle des patients qui sont nouvellement diagnostiqués pour la schizophrénie, en fonction du profil individuel des facteurs de risque; 3) Estimer le coût direct de la schizophrénie (pour les soins de santé et autres non reliés aux soins de santé) dans la perspective gouvernementale et simuler l’impact clinique et économique du développement d’un traitement dans une cohorte de patients nouvellement diagnostiqués avec la schizophrénie, suivis pendant les cinq premières années post-diagnostic. Méthode : Pour le premier objectif de ce programme de recherche, un total de 14 320 patients nouvellement diagnostiqués avec la schizophrénie ont été identifiés dans les bases de données de la RAMQ et de Med-Echo. Les six états spécifiques de la schizophrénie ont été définis : le premier épisode (FE), l'état de dépendance faible (LDS), l’état de dépendance élevée (HDS), l’état stable (Stable), l’état de bien-être (Well) et l'état de décès (Death). Pour évaluer les facteurs associés au risque de se trouver dans chacun des états spécifiques de la schizophrénie, nous avons construit 4 fonctions de risque en se basant sur l'analyse de risque proportionnel de Cox pour des risques compétitifs. Pour le deuxième objectif, nous avons élaboré et validé un modèle de Markov avec microsimulations de Monte-Carlo intégrant les six états spécifiques de la schizophrénie. Dans le modèle, chaque sujet avait ses propres probabilités de transition entre les états spécifiques de la schizophrénie. Ces probabilités ont été estimées en utilisant la méthode de la fonction d'incidence cumulée. Pour le troisième objectif, nous avons utilisé le modèle de Markov développé précédemment. Ce modèle inclut les coûts directs de soins de santé, estimés en utilisant les bases de données de la Régie de l'assurance maladie du Québec et Med-Echo, et les coûts directs autres que pour les soins de santé, estimés à partir des enquêtes et publications de Statistique Canada. Résultats : Un total de 14 320 personnes nouvellement diagnostiquées avec la schizophrénie ont été identifiées dans la cohorte à l'étude. Le suivi moyen des sujets était de 4,4 (± 2,6) ans. Parmi les facteurs associés à l’évolution de la schizophrénie, on peut énumérer l’âge, le sexe, le traitement pour la schizophrénie et les comorbidités. Après une période de cinq ans, nos résultats montrent que 41% des patients seront considérés guéris, 13% seront dans un état stable et 3,4% seront décédés. Au cours des 5 premières années après le diagnostic de schizophrénie, le coût direct moyen de soins de santé et autres que les soins de santé a été estimé à 36 701 $ canadiens (CAN) (95% CI: 36 264-37 138). Le coût des soins de santé a représenté 56,2% du coût direct, le coût de l'aide sociale 34,6% et le coût associé à l’institutionnalisation dans les établissements de soins de longue durée 9,2%. Si un nouveau traitement était disponible et offrait une augmentation de 20% de l'efficacité thérapeutique, le coût direct des soins de santé et autres que les soins de santé pourrait être réduit jusqu’à 14,2%. Conclusion : Nous avons identifié des facteurs associés à l’évolution de la schizophrénie. Le modèle de Markov que nous avons développé est le premier modèle canadien intégrant des probabilités de transition ajustées pour le profil individuel des facteurs de risque, en utilisant des données réelles. Le modèle montre une bonne validité interne et externe. Nos résultats indiquent qu’un nouveau traitement pourrait éventuellement réduire les hospitalisations et le coût associé aux établissements de soins de longue durée, augmenter les chances des patients de retourner sur le marché du travail et ainsi contribuer à la réduction du coût de l'aide sociale.

Eficácia da imunoterapia no tratamento de pitiose facial em equino

Background: Pythiosis in horses is a proliferative and ulcerative disease that primarily affects the skin and subcutaneous tissue of limbs, thoracic-abdominal region and head. This disease sometimes can also affect limb bones or cause tumoral masses in abdomen. Usually, the cutaneous cases are confused with habronemiasis. The disease is more common in marshy areas, places with formation of slow drainage ponds and aquatic vegetation under high temperatures. The aim of this study was to describe the development of facial lesions in a horse caused by pythiosis in Cuiaba, Mato Grosso, and, additionally to discuss relevant issues regarding the diagnosis, clinical course and response to immunotherapy treatment.Case: One five years old mare of unknown breed, created in property located in the Cerrado region, had a wound on its face difficult to be healed and non-responsive to several treatments based on ivermectin and organophosphate administrated by either topical or systemic via. The animal was assisted on the farm of origin by the veterinary team of the Clinical Medicine sector, of the Veterinary Hospital, Universidade Federal de Mato Grosso (HOVET-UFMT). on the occasion of the visit, which occurred 60 days after onset of signs, the animal showed a circular single large lesion, ulcerative with serous discharge on the right part of its face, between the eyes and nostrils. There were some necrotic foci with sinus, from which kunkers were extracted; a condition compatible with pythiosis. The diagnosis was confirmed by histology, ELISA and PCR.Discussion: Assuming pythiosis from data obtained from the survey and profile of the lesion (secretory aspect, emaciation and presence of sinus and kunkers), immunotherapy treatment was immediately applied. The advanced clinical aspects and the fact that early diagnosis and treatment are essentials to satisfactory therapeutic response were also taken into consideration for starting the treatment. The remission of signs was achieved after five subcutaneous applications with 14 days between each application. From the second application, it was observed clinical improvement and after 60 days of treatment there was almost complete remission of signs. The signs for a satisfactory response in the injury site followed the order of decreasing secretory aspect, decreasing borders, decrease the itching and bringing the edges together with the formation of a thin layer of crust on the surface. Pythiosis cases with lesions on the face and lower abdomen are commonly confused with habronemiasis by macroscopic and widespread similarity between technicians and attendants, and essential support to the diagnosis through laboratory tests, which in turn are still underutilized. In this case, the authors demonstrated the therapeutic efficacy of immunotherapy as an advantage, considering the possibility of applying it in cases of lesions in areas of difficult surgical access, treatment conditions in the field, with low cost and ease of application. Further studies approaching this alternative therapy are necessary, since side effects have been observed in some cases.

Incontinência urinária após gonadectomia em fêmeas caninas

A incontinência urinária adquirida é uma condição debilitante e, muitas vezes, incurável que acomete fêmeas castradas e raramente fêmeas inteiras ou machos. A manifestação clínica pode ocorrer em qualquer momento após a gonadectomia e resulta em graves problemas no manejo do paciente. Os mecanismos que desencadeiam a incontinência após ovariectomia envolvem decréscimo na pressão de fechamento uretral, alterações hormonais, aumento na deposição de colágeno na musculatura lisa da bexiga, diminuição na contratilidade do músculo detrusor e redução na resposta aos estímulos elétricos e ao carbachol. O diagnóstico é realizado pelo histórico do animal, pelo exame físico, pelos exames laboratoriais, pelo perfil de pressão uretral, pela ultrassonografia e pelas radiografias abdominais. O tratamento clínico envolve utilização de fármacos -adrenérgicos, estrógenos, análogos de GnRH e agentes antidepressivos. As técnicas cirúrgicas recomendadas correspondem à uretropexia, cistouretropexia, aplicação de colágeno na uretra e colpossuspensão. Melhor compreensão da etiologia, da fisiopatologia, dos métodos de diagnóstico e tratamentos é fundamental em razão do pouco conhecimento e da identificação dessa condição no Brasil.

Hematological and biochemical profiles and histopathological evaluation of experimental intoxication by sodium fluoroacetate in cats

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo dos métodos de rotina diagnóstica de mastite no leite de éguas

Routine diagnosis methods used in bovine mastitis were studied in 55 mares in lactation. The findings of strip cup test, California Mastitis Test-CMT, electronic somatic cell count-CCS, microbiological culture, and in vitro antimicrobial susceptibility profile of isolates were discussed. Streptococcus spp., Staphylococcus spp, and enterobacteria were the most common microorganisms isolated in health and CMT-positive mammary glands. Staphylococcus aureus and Arcanobacterium pyogenes were identified in two mares presenting clinical mastitis. Mean somatic cell count of eight mares without presence of microorganisms in milk was 247.57x10³/mL and 1.621,86x10³/mL in 47 mares with positive microbiological culture. Moderate concordance (63.8%) between positive reactions in CMT (1 to 3+) and microbiological culture was observed. Amicacin (78.9%), ceftiofur (74.7%), sulpha-trimetoprim (69,0%) and norfloxacin (69.0%), were the most effective drugs, while resistance of isolates was mainly observed against penicillin (64.8%), gentamycin (35.2%), azithromycin (35.2%), enrofloxacin (28.2%), and florfenicol (28.2%).

Sobremordida exagerada: diagnóstico e estratégias de tratamento

A sobremordida exagerada é um tipo de má oclusão que apresenta etiologia multifatorial e necessita de um diagnóstico diferencial elaborado e específico. O objetivo desse artigo é descrever os principais elementos de diagnóstico facial, cefalométrico e dentário e as principais estratégias de tratamento, como a extrusão de dentes posteriores, a intrusão de dentes anteriores ou a combinação dessas. Serão apresentados seis casos clínicos, auxiliando o ortodontista no diagnóstico e na seleção da estratégia de tratamento individualizada para cada situação clínica.

Digit ratio (2D:4D) is associated with gastric cancer

Background: Sex steroid exposure during early human development may influence disease susceptibility. Digit ratio (2D:4D) is a putative marker for prenatal hormone exposure and sensitivity, as well as the action of genes closely related to carcinogenesis. Digit ratio could act as a possible marker for cancer predisposition. Aims: The aim of this study is to investigate the possible correlations between right hand, left hand and right minus left (R. - L) 2D:4D and gastric cancer (GCA) in men and women and assess the correlations with tumor staging and histological diagnosis. Methods: Digital images of the right and left hand palms of patients diagnosed with GCA (n = 57, 42 males, 15 females) and age and sex-matched controls (n = 59, 41 males, 18 females) were obtained. Means for 2D:4D were compared. Data were analyzed by repeated-measures one-way ANOVA and Student's t-test for finger measurements and group comparisons and Pearson's and Spearman's tests for correlations with tumor staging (α = 0.05). Results: GCA group presented significantly higher left 2D:4D, but significantly lower R. - L in comparison to healthy controls, particularly so for males. Digit ratio did not correlate to clinical staging or TNM staging. However, low R. - L was significantly related to adenocarcinomas. Conclusions: Early developmental conditions, including prenatal testosterone seem to play a role on the malignant transformation of gastric lesions. The 2D:4D pattern found for gastric cancer parallels that earlier described for breast cancer. The findings suggest that 2D:4D could add to the list of etiological factors and be a putative marker for the screening of patients' susceptibility to develop gastric cancer. © 2012 Elsevier Ltd.

Estudo dacriocistográfico e tomográfico da via lacrimal excretora de cães portadores de epífora

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Diagnose de trincas em sistemas rotativos, utilizando modelos de falhas através da metodologia dos observadores de estados

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Isolamento, caracterização bioquímica e molecular por PCR-RFLP e análise dos polissacarídeos produzidos na formação de biofilme de Flavobacterium columnare em peixes

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Amplificação de DNA circulante para o diagnóstico da cisticercose bovina

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo clínico da infecção natural por T. cruzi em cães residentes em uma área rural de Mato Grosso do Sul, Brasil

Pós-graduação em Medicina Veterinária - FCAV