Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report

Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. It is characterized by dystonia and compulsive self-mutilation, in particular, biting behavior on the oral mucosa, tongue, lips, fingers, and shoulders, typically before one year of age. The majority of these patients require several procedures, including dental extractions, to prevent significant secondary lesions. This article aims to report a clinical case of a 12-year-old boy with an LNS diagnosis who was referred to the Paediatric Stomatology Department of Central Lisbon University Hospital. Since the age of eight, the patient had displayed self-harm behavior, with arm and oral injuries. On evaluation, he presented with deep ulcerated lesions on the lips and tongue, with substance loss associated with a significant decrease in food intake and consequent weight loss. The management included conservative therapy with gabapentin, lorazepam, and botulinum toxin injections. A successful reduction of self-mutilation with no signs of new lesions in the oral cavity and an improvement in nutritional status were reported. The therapeutic approach is essential to provide the best quality of life for patients and their caregivers. To delay radical treatments, multiple therapeutic options can be used. The oral pathology team considered that the most appropriate therapy was botulinum toxin A injections along with therapeutic adjustment, which was effective in wound healing and self-mutilation behavior ceasing at the two-month follow-up.info:eu-repo/semantics/publishedVersio

Our golden rule in Behçet's disease: treating the clinical manifestation

A Doença de Behçet (DB) é uma vasculite sistémica que pode ser definida na fronteira entre a doença autoimune e autoinflamatória. A sua etiopatogenia ainda não é completamente conhecida, embora saibamos que contribuem factores genéticos (Antigénios de Histocompatibilidade/ HLA, por exemplo) e ambienciais (maior prevalência em zonas específicas do globo). Há células implicadas no processo patológico (neutrófilos, macrófagos, linfócitos T reguladores) e outros componentes (factor de necrose tumoral/ TNF, interleucinas) do sistema imune. As formas clínicas da DB são muito variadas, quer na gravidade, quer nos órgãos atingidos: Behçet Mucocutâneo, Behçet Ocular, Vasculobehçet, Neurobehçet, Behçet Intestinal, Behçet Cardíaco. Independentemente dos mecanismos imuno-inflamatórios subjacentes às diversas apresentações clínicas, a terapêutica tem de ser adaptada a cada uma delas. A nossa série de DB, coligida ao longo de 20 anos, é representativa de todo o espectro clínico de DB e consideramos útil fazer uma resenha atual da terapêutica indicada, caldeando os dados da literatura, com a nossa experiência.info:eu-repo/semantics/publishedVersio

A Rare Case of Pleural Empyema Caused by Campylobacter Rectus

Campylobacter rectus is considered to be a primary periodontal pathogen that is rarely identified in extraoral specimens. We report a case of pleural empyema caused by Campylobacter rectus: the pathogen was isolated in the drained pleural fluid sample. Since the patient had previously undergone multiple antibiotic treatments, oral cultures were highly unlikely to be positive, although poor dental hygiene appears to be the leading risk factor for C. rectus systemic infections. The present case illustrates that C. rectus can be a cause of not only periodontal disease but also pulmonary infection.info:eu-repo/semantics/publishedVersio

As gramáticas da forma no processo de criação arquitetónica: as gramáticas originais e o desenho do espaço

O estudo apresentado foca-se no uso das gramáticas da forma, nomeadamente nas gramáticas originais, enquanto ferramenta de conceção do espaço arquitetónico. Uma gramática da forma constitui um sistema generativo de desenho, baseado num conjunto de regras que definem uma linguagem. O trabalho apresentado teve como ponto de partida apresentar as mais-valias das gramáticas da forma como uma metodologia que pode auxiliar o arquiteto na conceção do projeto. Neste sentido, as gramáticas foram utilizadas com o intuito de informar a fase de estudo prévio do projeto, através da definição de princípios de composição, dos volumes principais e das suas relações com a envolvente. Como aplicação prática, utilizou-se o formalismo das gramáticas da forma na procura de uma resposta a um problema de projeto enunciado no âmbito do exercício final de projeto do Mestrado Integrado em Arquitetura do ISCTE-IUL. O recurso às gramáticas da forma possibilita a geração de várias hipóteses sobre as quais pode haver uma comparação crítica e uma avaliação rigorosa. No presento trabalho a utilização da gramática de um modo computacional permitiu explorar a sua eficácia como método de trabalho em arquitetura.info:eu-repo/semantics/acceptedVersio

Trapeziectomy with Suture-Button Suspensionplasty Versus Ligament Reconstruction and Tendon Interposition: A Randomized Controlled Trial

The purpose of the present study was to compare the results of patients operated with trapeziectomy and ligament reconstruction and tendon interposition (LRTI) using flexor carpi radialis tendon versus trapeziectomy followed by suspension of the first metacarpal to the second metacarpal using a Mini TightRope® suture button (suture button suspension: SBS). A single-center prospective randomized controlled trial was performed, comparing 37 patients with SBS and 39 with LRTI. All surgeries were performed by the same fellowship-trained hand surgeon. Patients were assessed by an independent observer at 40 months' follow-up. Pre- and postoperative strength, trapezial space ratio (TSR), range of motion, QuickDASH and visual analogue pain score were recorded. Both procedures improved functional parameters of pain, key strength, tip strength and grip strength while maintaining range of motion, without significant differences. In the SBS group, TSR decreased by 17%, compared to 28% in the LRTI group. The mean operative time was shorter in SBS (63 vs 91 minutes; p < 0.0001), as was immobilization time (2 vs 6 weeks; p < 0.0001), and patients resumed normal activity sooner (10 vs 12 week; p = 0.0138) and required less physical therapy (19.3 vs 13.1 weeks; p < 0.0001). We believe that our results are related to the hypothesis suggested by biomechanical studies that revealed better initial load bearing profile and maintenance of trapezial space following serial loading in cadaver models.info:eu-repo/semantics/publishedVersio

Anterior Slope Correction-Flexion Osteotomy in Traumatic Genu Recurvatum

A decreased posterior tibial slope has been associated with an increased risk of posterior cruciate ligament failure, anterior knee pain, and premature knee osteoarthritis. Trauma is a common cause of osseous genu recurvatum. Surgical management is recommended to correct the tibial slope and prevent knee pain and osteoarthritis progression. This article discusses our preferred treatment using a proximal tibial opening-wedge osteotomy for surgical management of genu recurvatum secondary to significant anterior tibial slope.info:eu-repo/semantics/publishedVersio

Is Bilateral Hallux Valgus Chevron Osteotomy a Safe Procedure for Ambulatory Surgery?

Introduction: Several osteotomies of the first metatarsal have been described for treatment of hallux valgus but chevron osteotomy is one of the most common and well-established procedure for treating this deformity. Although there is a trend towards considering bilateral surgery there is lack of publications addressing bilateral treatment in ambulatory units. The aim of this study is to analyze results of bilateral and unilateral distal chevron osteotomies associated with lateral soft tissue release as ambulatory procedures. Materials and methods: A retrospective review was made about the patients treated at our ambulatory unit over a period of five years. Initially, general information as patient's satisfaction's rate and return to normal activity's time and evaluation of standardized follow-up charts and records made by the surgeon were recorded. Secondly, the hallux metatarsophalangeal interphalangeal scale developed by the American Orthopedic Foot & Ankle Society was used. Results: A total of 194 patients with 230 feet operated were included in this study. We found 29 patients that didn't meet the inclusion criteria and were excluded. The unilateral group was composed by 139 feet and the bilateral group by 52 feet. The improvement between preoperative and discharge clinical and radiographic results was significant independently in both groups. A total of 14% of complications were found in our study, 19% in the unilateral group and 12% at the bilateral group. None of them required revision surgery. Conclusion: Bilateral distal chevron osteotomies, associated with lateral soft tissue release, are safe and effective ambulatory procedures. It was found a satisfactory deformity correction in moderate HV. Both patients that underwent unilateral and bilateral procedures had similar clinical and radiological outcomes with no increase in complications or return to normal activity time. With this study it was demonstrated that bilateral chevron osteotomies can be performed as ambulatory procedures.info:eu-repo/semantics/publishedVersio

Avaliação de clones de café conilon de maturação intermediária no sul do Estado do Espírito Santo.

A cafeicultura de conilon do Espírito Santo é uma das atividades mais importante na geração de renda e emprego no Estado. O objetivo do trabalho foi estudar a produtividade de 95 clones elites de café conilon de maturação intermediária, selecionados no norte do Estado, nas condições edafoclimáticas do sul do Espírito Santo. O trabalho foi conduzido na Fazenda Experimental de Bananal do Norte/Incaper, Cachoeiro de Itapemirim, ES. O delineamento experimental foi blocos casualizados com quatro repetições. A parcela experimental foi de cinco plantas. O espaçamento foi de 3,0 x 1,2 metros. O trabalho foi implantado em maio de 2004 e os resultados apresentados são de três colheitas. Os clones mais promissores com em três colheitas foram os 710/97, 24/93, 124/89, 26/86, 656/97, 15/6/89, 88/87/1, 32/89, 73/87/1e 172/89 com produtividades maiores que 61,00 sc.benef./ha, valores esses superiores a média do ensaio (53,13 sc. benef./ha) e das testemunhas. A grande variabilidade para produtividade, associada ao bom potencial de produção de vários clones e a outras características avaliadas darão subsídios para seleção de clones de maturação intermediária, que após o teste de incompatibilidade genética, poderão ser agrupados para formação e lançamento de variedade, mais específica para condições agroclimáticas do Sul do Estado do Espírito Santo. Há necessidade dos dados da quarta colheita para maior acurácia na seleção dos clones superiores. Os resultados poderão ser utilizados para a ampliação da base do conhecimento e para definição de estratégias de futuros trabalhos de melhoramento genético com o café conilon