Rolling technique for treatment of left displacement of the large colon in horses: 11 cases (2004-2009)

Durante o período de 2004 a 2009, 11 animais foram tratados para o deslocamento à esquerda do cólon maior, por meio da técnica de rolamento sob anestesia geral, com uma técnica distinta das demais previamente descritas. A seleção dos casos foi baseada nos achados da palpação retal e confirmada ultrassonograficamente. Nove animais foram tratados com sucesso e dois foram submetidos ao tratamento cirúrgico após três tentativas de rolamento. Não foram observadas complicações decorrentes do procedimento a curto e a longo prazos. Somente um animal apresentou recidiva do quadro clínico 10 meses após o tratamento e foi novamente submetido ao rolamento. Apesar da diferença com relação às outras técnicas, esta também se mostrou eficaz. O rolamento, mesmo quando realizado mais de uma vez, mostrou ser um procedimento seguro, porém enfatiza-se a necessidade de cuidados especiais aos animais após a sua realização, pois medidas emergenciais podem ser necessárias caso complicações decorrentes desta técnica ocorram.

Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi foi descrita pela primeira vez em 1963, após a observação dos traços físicos semelhantes apresentados por sete crianças com retardo mental, baixa estatura, polegares grandes e largos e anomalias faciais. Mais tarde, novas publicações definiram outras características dessa síndrome, a qual incide em 1 a cada 300.000 nascidos e apresenta etiologia incerta. Sintomas otorrinolaringológicos e fonoaudiológicos são freqüentes, daí a importância de melhor conhecimento dessa síndrome por esses especialistas. RELATO DE CASO: Apresentamos as principais manifestações clínicas, traços físicos e as avaliações auditivas de cinco crianças portadoras da Síndrome de Rubinstein-Taybi, em atendimento na Faculdade de Medicina de Botucatu (UNESP). Para as avaliações auditivas foram realizados exames de audiometria tonal, imitanciometria e potenciais evocados do tronco encefálico (BERA). As principais características observadas foram: retardo mental, baixa estatura, polegares largos, pirâmide nasal alta, palato ogival, má oclusão dentária, atraso no desenvolvimento neuropsicomotor e de linguagem. DISCUSSÃO: Os traços físicos característicos dos portadores dessa síndrome facilitam o diagnóstico, e muitos deles são responsáveis por sintomas otorrinolaringológicos e fonoaudiológicos, como infeções de vias aéreas superiores, obstrução nasal, otites médias, hipertrofia adenoamigdaliana, surdez condutiva, hipotonia perioral e disfagia. O importante comprometimento cognitivo é responsável pelo atraso no desenvolvimento da linguagem e pelo baixo rendimento escolar. CONCLUSÕES: Frente às várias manifestações otorrinolaringológicas e fonoaudiológicas apresentadas pelas crianças portadoras da Síndrome de Rubinstein-Taybi, torna-se necessário que esses especialistas conheçam melhor essa síndrome para que possam fazer o diagnóstico precoce e orientar o tratamento dessas crianças.

Caso para diagnóstico

Apresenta-se um caso de bullosis diabeticorum, doença rara associada ao diabetes mellitus crônico e complicações como a neuropatia ou nefropatia. As bolhas são tensas e grandes, com pouca inflamação circundante e localização acral, regredindo espontaneamente em cerca de três semanas. O exame histopatológico é inespecífico, e o diagnóstico diferencial deve ser feito com a epidermólise bolhosa, os pênfigos, o penfigóide bolhoso, queimaduras e erisipelas bolhosas.

Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome

Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.

Alergia látex-fruta

O látex está sendo considerado o alergênico do ano 2000, tendo em vista que inúmeros indivíduos, principalmente profissionais da área de saúde e pacientes submetidos a várias intervenções diagnósticas e terapêuticas, estão freqüentemente expostos aos alérgenos do látex, presentes em produtos de borracha natural. As manifestações clínicas conseqüentes às reações alérgicas de hipersensibilidade imediata vão desde rinite, urticária, conjuntivite, angioedema, asma, até anafilaxia. Estudos recentes estão demonstrando que pacientes alérgicos ao látex desenvolvem concomitantemente sensibilização a certos alimentos de origem vegetal, especialmente frutas como papaia, figo, banana, abacate, kiwi, pêssego, abacaxi, melão e castanha, acreditando-se numa provável ocorrência de reações cruzadas entre os alérgenos do látex e destas frutas. Faz-se, então, uma revisão sobre a alergia ao látex, em particular sobre os grupos de risco, incluindo a presença de reatividade cruzada entre o látex e as frutas.

Iniciativas de comunicação na interação entre crianças com distúrbios do espectro autístico e suas mães: análise pragmática

OBJETIVOS: investigar as iniciativas de comunicação na interação entre crianças com distúrbios do espectro autístico (DEA) e suas mães, por meio de uma análise pragmática. MÉTODO: cinco crianças com DEA, de ambos os gêneros, idades entre cinco e 12 anos juntamente com suas mães. O grupo controle constou de cinco crianças com desenvolvimento normal, pareadas com as crianças com DEA de acordo com gênero e idade e suas respectivas mães, totalizando 20 participantes. Para a caracterização da amostra foram utilizadas uma Ficha informativa e a Escala de Avaliação de Traços Autísticos. Cada díade foi filmada por 30 minutos durante as interações lúdicas, analisadas a partir do Protocolo de Pragmática. Este instrumento avalia as iniciativas de comunicação, meios e funções comunicativas expressas. Os dados foram tratados estatisticamente (p < 0,05; foram utilizados os testes não-paramétricos de Wilcoxon e de Mann-Whitney). RESULTADOS: foram observadas diferenças estatisticamente significantes entre as iniciativas comunicativas das crianças com DEA e suas mães, quando comparadas ao grupo controle. As díades que envolveram crianças com DEA iniciaram menos a comunicação e utilizaram predominantemente gestos e vocalizações menos interativas. CONCLUSÕES: estes dados possibilitaram descrever aspectos fundamentais para compreensão das manifestações clínicas da população estudada e para a elaboração de programas de intervenção que visem melhorar a qualidade de vida da criança e sua família.

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non-Jewish patients are different and more diverse. In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found. of these,14 are novel, including five missense mutations (E24G, D68A, D249V, C152W, H244R), two nonsense mutations (Q184X, E214X), three deletions (923delT, 33del13, 244delA), one insertion mutation (698insC), two sequence variations in one allele ([10T>G; 11insG]), an elimination of the stop codon (941A>G, TAG-->TGG, X314W), and one splice acceptor site mutation (IVS1 - 2A>T). The E24G mutation resulted in substitution of an invariable amino acid residue (Glu) in the first esterase catalytic domain consensus sequence. The IVS1 - 2A>T mutation caused the retention of 40 nucleotides of intron 1 upstream of exon 2. The results of transient expression of the mutant ASPA cDNA containing these mutations in COS-7 cells and assays for ASPA activity of patient fibroblasts indicated that these mutations were responsible for the enzyme deficiency. In addition, patients with the novel D249V mutation manifested clinically at birth and died early. Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frameshift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease.

Sympathetic hyperactivity, respiratory failure, pruritus, and anesthesia after unintentional epidural injection of potassium chloride: Case report

Background and Objectives. A combination of epidural and general anesthesia has been widely used to attenuate the surgical stress response and to provide postoperative analgesia. This case report illustrates the use of this anesthetic technique. Analgesia was induced with local anesthetic in the immediate postoperative period using unintentional 19.1% potassium chloride (KCI) as diluent. Methods. An ASA I male patient was scheduled for surgical correction of idiopathic megaesophagus under continuous epidural anesthesia combined with general anesthesia. In the postoperative period, while preparing 10 mt 0.125% bupivacaine to be administered through the epidural catheter for pain control, 5 mt 19.1% KCI was unintentionally used as diluent, resulting in a 9.55% potassium solution concentration. Results. The patient developed warmness of the lower limbs, tachycardia, hypertension, intense pruritus on the chest, agitation, exacerbation of sensory and motor blocks, and respiratory failure secondary to pulmonary edema, requiring ventilatory support. Total recovery was observed after 24 hours. Conclusions. Epidurally injected potassium leads to severe clinical manifestations caused by autonomic dysfunction, spinal cord irritation, and possible release of histamine. Despite continuous recommendations, ampule misidentification still happens in hospitals, frequently leading to serious accidents.

Epidemiology of the Cnidarian Physalia physalis stings attended at a health care center in beaches of Adicora, Venezuela

Stings caused by jellyfish and jellyfish-like colonies are common all around the world, with serious manifestations and occasional deaths reported in some countries. Between December 2006 and 2007, epidemiological, clinical and treatment aspects of stings caused by the Portuguese man-of-war (Physalia physalis) in 59 patients consulting the ambulatory emergency in Adicora, Falcon State, Venezuela, were studied. Most of the stings occurred in males (59%) preschool and school-aged children (49%), visitors from other areas of the country (92%) during holidays when bathing or diving at the beach (97%). Injuries presented linear erythematous plaques at the point of contact with the animal, located in several anatomical sites. Most clinical manifestations observed were: intense burning pain, urticaria, erythema and inflammation (100%), as well dyspnea with laryngeal edema and fever (19%). Patients were treated with topical drugs, including antihistamine and antipyretic drugs, but also with systemic hydrocortisone. P. physalis stings in Adicora appeared to have a seasonal pattern, with systemic complications potentially life-threatening. Thus, epidemiological surveillance program is recommended, particularly in travelers. (C) 2012 Elsevier Ltd. All rights reserved.

The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Estudo das alterações eletrocorticográficas na insuficiência hepática aguda experimental.

The aim of this study was to test the application and value of electrocorticography (ECG) in the early diagnosis and characterization of electrocorticograms changes on experimental fulminant hepatic failure (FHF). Our material was composed of two groups of guinea pigs: a) ethanolamine group--42 animals with FHF induced by intrabiliary injection of 2.5 ml of monoethanolamine oleate; b) control group--10 animals submitted to intrabiliary injection of 2.5 ml of saline. Electrocorticograms recordings were taken in both groups with the electrodes implanted on the parieto-occipital regions of the skull. The hepatic failure was characterized by clinical manifestations, serum biochemical tests and histopathological findings. In the early hepatic coma the electrocorticograms could not be unequivocally distinguished from normal pattern, and alpha rhythm was recognizable in most animals. With further deterioration of the clinical condition the tracing showed progressive slowness of the normal rhythm, increased voltage and triphasic waves followed by suppression of electrical activity preceding the animal death. The electrocorticography was not suitable for the early diagnosis of hepatic coma, since the ECG alterations became evident only in overt coma. However the method could be useful for the characterization of cerebral disorders and the study of the pathogenesis of fulminant hepatic failure.

Foreign body in the tracheobronchial tree

A 20-year experience with the treatment of 74 patients (83.8% children) for foreign body aspiration is reviewed. The object of this review is to show the clinical manifestations, the radiological findings, the nature and distribution in the bronchial tree, and complications due to longstanding (months or years) foreign bodies in the bronchial tree. The most common foreign bodies found were peanuts (13.5%), corn (13.5%), and beans (13.5%). The most frequent clinical manifestation was choking (67.5%), and the most frequent radiological finding was atelectasis (41.8%). The most serious complication was bronchiectasis needing resection in six patients who had the foreign body retained for years in the bronchial tree. In conclusion, in spite of an obvious foreign body in the tracheobronchial tree many cases are not diagnosed, and a longstanding foreign body in the airway may be responsible for irreversible complications.

Paracoccidioidomicose

The aspects related to the epidemiology, pathogenesis, clinical classification, clinical manifestations and treatment of Paracoccidioidomycosis, are presented. The disease is caused by Paracoccidioides brasiliensis and is the most frequent and the most important systemic mycosis in the South America, specifically in Brazil, Argentina, Colombia and Venezuela. Because of the high frequency of cutaneous-mucosal lesions presented by the patients, the potential severity of the disease and the socio-economic consequences to the patient, it is very important for a drematologist to be qualified to precisely diagnose the disease and render proper care.

Seqüência de moebius: Manifestações clínicas e avaliação auditiva

Introduction: Children with Moebius syndrome may present paralysis of cranial nerves III, IV, V, VI, VII, VIII, IX, X and XII, compromising motor and sensorial functions. Hands and feet defects (syndactyly, equinovarus and arthrogryposis) are frequently associated. These manifestations can be attributed to the use of misoprostol during pregnancy to induce abortion. Study design: Clinical prospective. Aim: To evaluate the main clinical manifestations, hearing acuity and possible etiologic factors in children with Moebius syndrome. Material and method: The children were submitted to clinical, otolaryngological and hearing acuity assessment. Hearing acuity was evaluated through behavioral tests, pure tone audiometry, tympanometry and auditory brainstem response (ABR). We investigated possible etiologic factors. Results: Three boys and two girls were evaluated. The main manifestations were: facial paralysis, paralysis of masseter muscle, defects in dental occlusion, retraction of tympanic membrane, equinovarus, oblique palpebral fissure and tongue atrophy. Conductive hearing loss was detected in three children and sensorineural hearing loss in one child. The use of misoprostol during pregnancy was reported by four mothers. Conclusions: The children with Moebius syndrome evaluated in the present study manifested palsies of various cranial nerves, especially V, VII and XII nerves, responsible for motor and sensorial alterations. Inadequate eustachian tube function associated to conductive hearing loss was frequent. The use of misoprostol during pregnancy was reported by the mothers and it was considered a possible etiologic factor.

Evaluation of DNA polymorphisms amplified by arbitrary primers (RAPD) as genetically associated elements to differentiate virulent and non-virulent Paracoccidioides brasiliensis isolates

Randomly amplified polymorphic DNA (RAPD) analysis of 35 Paracoccidioides brasiliensis isolates was carried out to evaluate the correlation of RAPD profiles with the virulence degree or the type of the clinical manifestations of human paracoccidioidomycosis. The dendrogram presented two main groups sharing 64% genetic similarity. Group A included two isolates from patients with chronic paracoccidioidomycosis; group B comprised the following isolates showing 65% similarity: two non-virulent, six attenuated, five virulent, eight from patients with chronic paracoccidioidomycosis and two from patients with acute paracoccidioidomycosis. The virulent Pb18 isolate and six attenuated or non-virulent samples derived from it were genetically indistinguishable (100% of similarity). Thus, in our study, RAPD patterns could not discriminate among 35 P. brasiliensis isolates according to their differences either in the degree of virulence or in the type of the clinical manifestation of this fungal infection. © 2002 Federation of European Microbiological Societies. Published by Elsevier Science B.V. All rights reserved.