Paralisia Facial: Técnicas de Reconstrução Neuro-Muscular

Several surgical procedures have been proposed through the years for the treatment of facial paralysis. The multiplicity and diversity of techniques portray the complexity and challenge represented by this pathology. Two basic dynamic options are available: -Reconstruction of nerve continuity through direct micro suture, with interposition grafts or nerve transpositions. -Regional muscular transposition, most often using the temporalis. Facial reanimation with the temporalis transfer has withstood the test of time and still is a reference technique. In a few weeks, good results can be obtained with a single and rather simple surgical procedure. Functional free flaps have been used with increasing frequency in the last two decades, most often combining a cross-facial nerve graft followed by a gracilis free flap nine months later. With this method there is a potential for restoration of spontaneous facial mimetic function. Apparently there is a limit in microsurgical technique and expertise beyond which there is no clear improvement in nerve regeneration. Current research is now actively studying and identifying nerve growth factors and pharmacological agents that might have an important and complementary role in the near future.

Atrofia Muscular Espinhal: Análise Descritiva de Uma Série de Casos

Introdução: A Atrofia Muscular Espinhal (AME) é o nome dado a uma doença neuromuscular específica caracterizada pela degeneração dos neurónios motores medulares, condicionando atrofia e fraqueza muscular progressivas. É determinada pela alteração do gene Survival Motor Neuron-1 (SMN1), localizado no braço longo do cromossoma cinco. Uma cópia quase idêntica do gene SMN1, chamada SMN2, modula a gravidade da doença. A AME repercute-se a nível de vários órgãos e sistemas, envolvendo frequentemente os sistemas respiratório, osteoarticular e gastrintestinal. Estão descritos vários subtipos da doença, com base quer na idade do início dos sintomas quer na máxima aquisição motora alcançada. Objectivos: Estudar a população de doentes com o diagnóstico de AME (clínico e/ou genético) seguida na Consulta de Medicina Física e de Reabilitação (CMFR) do Hospital de Dona Estefânia (HDE) em Lisboa, no período de Janeiro de 2007 a Outubro de 2009. Métodos: Estudo retrospectivo com análise de parâmetros sócio-demográficos, clínica, exames complementares de diagnóstico, evolução e complicações da doença. Resultados e Discussão: A casuística é constituída por doze doentes, com idades compreendidas entre os 0 meses e os 21 anos de idade, tendo sete o diagnóstico de AME I, um AME II equatro o diagnóstico de AME tipo III. Verificou-se que a gravidade da doença era inversamente proporcional à idade no início dos sintomas e à função motora máxima atingida pelo indivíduo durante o seu desenvolvimento. Todos os doentes apresentaram infecções respiratórias recorrentes e nos óbitos ocorridos, verificou-se como causa de morte a insuficiência respiratória, complicada de paragem cardio-respiratória. As principais complicações ortopédicas foram o desenvolvimento de contracturas articulares das grandes articulações dos membros inferiores, bem como o desenvolvimento de escoliose. A disfagia foi a principal complicação gastrenterológica. Conclusão: A não aquisição de etapas do desenvolvimento motor está correlacionada com um agravamento do prognóstico funcional e vital.

Zero-Time Kidney Histology Predicts Early Graft Function

Our purposes are to determine the impact of histological factors observed in zero-time biopsies on early post transplant kidney allograft function. We specifically want to compare the semi-quantitative Banff Classification of zero time biopsies with quantification of % cortical area fibrosis. Sixty three zero-time deceased donor allograft biopsies were retrospectively semiquantitatively scored using Banff classification. By adding the individual chronic parameters a Banff Chronic Sum (BCS) Score was generated. Percentage of cortical area Picro Sirius Red (%PSR) staining was assessed and calculated with a computer program. A negative linear regression between %PSR/ GFR at 3 year post-transplantation was established (Y=62.08 +-4.6412X; p=0.022). A significant negative correlation between arteriolar hyalinosis (rho=-0.375; p=0.005), chronic interstitial (rho=0.296; p=0.02) , chronic tubular ( rho=0.276; p=0.04) , chronic vascular (rho= -0.360;P=0.007), BCS (rho=-0.413; p=0.002) and GFR at 3 years were found. However, no correlation was found between % PSR, Ci, Ct or BCS. In multivariate linear regression the negative predictive factors of 3 years GFR were: BCS in histological model; donor kidney age, recipient age and black race in clinical model. The BCS seems a good and easy to perform tool, available to every pathologist, with significant predictive short-term value. The %PSR predicts short term kidney function in univariate study and involves extra-routine and expensive-time work. We think that %PSR must be regarded as a research instrument.

De Novo Hypertension and Decline of Renal Function in a Young Woman with Systemic Lupus Erythematosus and Antiphospholipid Syndrome

Antiphospholipid syndrome nephropathy and lupus nephritis have similar clinical and laboratory manifestations and achieving the accuracy of diagnosis required for correct treatment frequently necessitates a kidney biopsy. We report the case of a 29-year-old woman referred to the nephrology service for de novo hypertension, decline of renal function and proteinuria. She had had systemic lupus erythematosus and antiphospholipid syndrome since the age of 21 and was taking oral anticoagulation. Two weeks later, after treatment of hypertension and achievement of adequate coagulation parameters, a percutaneous renal biopsy was performed. The biopsy revealed chronic lesions of focal cortical atrophy, arterial fibrous intimal hyperplasia and arterial thromboses, which are typical features of antiphospholipid syndrome nephropathy. We describe the clinical manifestations and histopathology of antiphospholipid syndrome nephropathy and review the literature on renal biopsy in patients receiving anticoagulation.

Anestesia para a Distrofia Muscular Oculo-Faríngea: a Propósito de um Caso Clínico

A importância deste caso clínico particular prende-se com o facto da distrofia muscular oculo-faríngea ser uma forma rara de distrofia muscular com importantes implicações anestésicas. Doente de 64 anos com manifestações de distrofia muscular oculo-faríngea desde 1994, proposto para parotidectomia esquerda sob anestesia geral. Na avaliação pré-operatória evidência de ptose bilateral e envolvimento dos músculos esqueléticos proximais das extremidades ao exame neurológico. Foi programado para o primeiro tempo da sala operatória e foram tomadas todas as precauções inerentes ao alto risco para hipertermia maligna. Foi realizada uma indução de sequência rápida com propofol por TCI (target controlled infusion), perfusão contínua de remifentanil e uma dose de 0,9 mg/kg de rocurónio por via endovenosa com intubação endotraqueal sem intercorrências. Manutenção anestésica com anestesia endovenosa total. A propósito deste doente fomos rever as implicações e cuidados anestésicos a ter neste tipo de distrofia muscular pouco referida na literatura anestésica com apenas um artigo de há 15 anos descrevendo a sua abordagem anestésica.

Atheroembolic Renal Disease As a Cause of Allograft Primary Non-Function

Atheroembolic renal disease, also referred to as cholesterol crystal embolization, is a rare cause of renal failure, secondary to occlusion of renal arteries, renal arterioles and glomerular capillaries with cholesterol crystals, originating from atheromatous plaques of the aorta and other major arteries. This disease can occur very rarely in kidney allografts in an early or a late clinical form. Renal biopsy seems to be a reliable diagnostic test and cholesterol clefts are the pathognomonic finding. However, the renal biopsy has some limitations as the typical lesion is focal and can be easily missed in a biopsy fragment. The clinical course of these patients varies from complete recovery of the renal function to permanent graft loss. Statins, acetylsalicyclic acid, and corticosteroids have been used to improve the prognosis. We report a case of primary allograft dysfunction caused by an early and massive atheroembolic renal disease. Distinctive histology is presented in several consecutive biopsies. We evaluated all the cases of our Unit and briefly reviewed the literature. Atheroembolic renal disease is a rare cause of allograft primary non -function but may become more prevalent as acceptance of aged donors and recipients for transplantation has become more frequent.

Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotypes Associated with Upregulated Type I Interferon Signaling

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer a gain-of-function - so that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.

LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patients

Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination of full genomic sequencing and complementary DNA analysis led to the particularly high mutation detection rate of 96% (50/52 disease alleles). Besides 22 undocumented polymorphisms, 18 different mutations were identified in the course of this work, 14 of which were novel. In particular, we describe the first fully characterized gross deletion in the LAMA2 gene, encompassing exon 56 (c.7750-1713_7899-2153del), detected in 31% of the patients. The only two missense mutations detected were found in heterozygosity with nonsense or truncating mutations in the two patients with the milder clinical presentation and a partial reduction in muscle laminin-alpha2. Our results corroborate the previous few genotype/phenotype correlations in MDC1A and illustrate the importance of screening for gross rearrangements in the LAMA2 gene, which may be underestimated in the literature.