Anti-Signal Recognition Particle Myopathy in a Geriatric Patient

Anti-signal recognition particle (SRP) myopathy is a rare idiopathic inflammatory myositis that usually affects middle-age women, and is characterized by rapidly progressive proximal and symmetrical muscle weakness, elevated creatine kinase levels, severe necrotizing immune-mediated myopathy, presence of anti-SRP autoantibodies and poor response to steroid therapy. We report a geriatric case of a previously independent patient, presenting with slow onset of proximal paraparesis, myalgia and severe gait impairment. The patient was treated with steroid and azathioprine, with laboratory and pain response but modest muscle strength improvement. The clinical presentation of this unusual patient was atypical, which hampered the correct diagnosis.

Strongyloides stercoralis - a Legacy from the Past

The authors present the case of a 65-year-old Caucasian man who had previously lived in Guinea-Bissau. The patient was diagnosed in Portugal with an anti-neutrophil cytoplasmic antibody-associated vasculitis and started on corticosteroids plus cyclophosphamide, with clinical improvement. Some months later, his general status deteriorated, iatrogenic bicytopenia developed and immunosuppressive drugs were tapered. Microbiological tests identified numerous larvae and eggs of Strongyloides stercoralis in various biological samples, and a diagnosis of hyperinfection syndrome was established. The patient was started on antihelminthic drugs but developed septic shock and died. This case highlights a rare and severe complication of immunosuppression in developed countries.

Acute Acalculous Cholecystitis as a Presenting Manifestation in Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is known to involve the gastrointestinal tract, but gallbladder involvement is rare. The authors report the case of a 26-year-old postpartum female who presented with acute right upper quadrant abdominal pain and was diagnosed with acute acalculous cholecystitis (AAC). In the presence of concomitant features of nephritis, pericardial effusion, anaemia and positive ANA titre, the diagnosis of SLE was confirmed during hospitalisation. Histopathological analysis of the gall bladder revealed evidence of vasculitis. Although rare, AAC can be the first presentation of patients diagnosed with SLE. Prompt diagnosis and management results in a better patient outcome.

Epidemiología y manifestaciones clínicas de la enfermedad de Kawasaki en el Hospital Nacional de Niños Benjamín Bloom de Enero 2009 a Diciembre 2013.

La Enfermedad de Kawasaki es una enfermedad febril aguda auto limitada, siendo la vasculitis más frecuente en la población infantil menor de 5 años. Al momento existen dos estudios previos sobre epidemiología y características clínicas en El Salvador. Objetivos: Describir el perfil clínico-epidemiológico de la Enfermedad de Kawasaki en el Hospital Nacional de Niños Benjamín Bloom entre Enero 2009 a Diciembre 2013. Material y métodos: Diseño descriptivo, transversal, observacional y retrospectivo. Se incluyeron los expedientes de pacientes con diagnóstico de Enfermedad de Kawasaki encontrados en la base de datos del Departamento de Estadística del Hospital Nacional de Niños Benjamín Bloom entre enero de 2009 a diciembre de 2013, se tomó en cuenta la epidemiología, manifestaciones clínicas, hallazgos de laboratorio y ecocardiograma. Se estima que se presentan de un 10 a 20 nuevos casos por año, con predominio en edad preescolar y sexo masculino. Según estudios previos se observa una tendencia de aumento de casos en el país.

Vasculites cerebrais na doença inflamatória intestinal

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Penile Skin Involvement as the First Presentation of Henoch-Schonlein Purpura Report of Nine Cases and Review of Literature

Introduction: Involvement of penis is a rare presentation in henoch-schonlein purpura (HSP). The presentations are mainly due to the deposition of immunoglobulin A (IgA) into the vessel walls. In this report, we present the clinical history of nine HSP cases that presented with penile skin involvement. Case Presentation: All patients were referred in the acute phase of HSP. Penile skin involvement was evident as erythema, edema, ecchymosis, or induration of prepuce and/or penile shaft, that appeared simultaneously with skin rash in seven patients. Gastrointestinal involvement was positive in six patients. Patients were treated with steroids and follow up visits were normal except for one patient that developed crescentic glomerulonephritis. Conclusions: We present nine cases of HSP with penile involvement in order to indicate another rare aspect of HSP and its possible complications as well as its appropriate treatment.

Kawasaki Disease and Peripheral Gangrene in Infancy

Introduction: Early diagnosis and treatment of Kawasaki disease as the most common cause of acquired heart disease in childhood, may significantly improve the prognosis. Diagnosing infantile Kawasaki (younger than a year) is difficult because of obscure symptoms; at the same time they are at the higher risk of coronary abnormalities. Case Presentation: We report three infants with prolonged (more than 5 days) fever and peripheral gangrene without any other clinical manifestations of Kawasaki disease. Kawasaki was diagnosed due to dilation of coronary artery and other aortic branches, thrombocytosis, and rising of ESR and CRP. All patients were treated with high dose aspirin, IVIG and pulse therapy with methylprednisolone. Additionally, cytotoxic drugs or infliximab were used for two of them because of severe aneurysms in the aortic branches. All 3 patients received aspirin with anti-platelet aggregation dose and 2 patients heparin as an anti-coagulant agent for longtime. After adequate treatment, peripheral gangrene, arterial dilations and aneurysms improved, but during 12 months follow-up coronary aneurysms did not improve completely. Conclusions: Peripheral gangrene must be regarded as an important sign of infantile Kawasaki disease early treatment of which can prevent severe permanent coronary involvements and sequels.

Antibiotic Therapy for Very Low BirthWeigh Newborns in NICU

Background: Prolonged empiric antibiotics therapy in neonates results in several adverse consequences including widespread antibiotic resistance, late onset sepsis (LOS), necrotizing enterocolitis (NEC), prolonged hospital course (HC) and increase in mortality rates. Objectives: To assess the risk factors and the outcome of prolonged empiric antibiotic therapy in very low birth weight (VLBW) newborns. Materials and Methods: Prospective study in VLBW neonates admitted to NICU and survived > 2 W, from July 2011 - June 2012. All relevant perinatal and postnatal data including duration of antibiotics therapy (Group I < 2W vs Group II > 2W) and outcome up to the time of discharge or death were documented and compared. Results: Out of 145 newborns included in the study, 62 were in group I, and 83 in Group II. Average duration of antibiotic therapy was 14 days (range 3 - 62 days); duration in Group I and Group II was 102.3 vs 25.510.5 days. Hospital stay was 22.311.5 vs 44.3 14.7 days, respectively. Multiple regression analysis revealed following risk factors as significant for prolonged empiric antibiotic therapy: VLBW especially < 1000 g, (P < 0.001), maternal Illness (P = 0.003), chorioamnionitis (P = 0.048), multiple pregnancy (P = 0.03), non-invasive ventilation (P < 0.001) and mechanical ventilation (P < 0.001). Seventy (48.3%) infants developed LOS; 5 with NEC > stage II, 12 (8.3%) newborns died. Infant mortality alone and with LOS/NEC was higher in group II as compared to group I (P < 0.002 and < 0.001 respectively). Conclusions: Prolonged empiric antibiotic therapy caused increasing rates of LOS, NEC, HC and infant mortality

Perinatal complications associated with preterm deliveries at 24 to 33 weeks and 6 days gestation (2011- 2012): A hospital-based retrospective study

Background: Morbidity and mortality of preterm babies are important issues in perinatal medicine. In developed countries, preterm delivery is the cause of about 70% of mortality and 75% of morbidity in the neonatal period, respectively. Objective: The aim of this study was to determine the risk factors for preterm labor and the outcomes, in terms of perinatal mortality and morbidity at the time of discharge home, among preterm infants at less than 34 weeks gestation. Materials and Methods: A retrospective study was conducted and all infants with a gestational age of 24 to 33 weeks and 6 days who were born from November 1st , 2011 to March 31, 2012 were enrolled in this study. Results: From 1185 preterm infants were born during this period, 475 (40.08%) infants with less than 34 weeks gestational age were included in the study. Our study showed the major obstetrical risk factors for preterm labor were as follows: preeclampsia (21%), premature rupture of membranes (20.3%), abruption of placenta (10%), and idiopathic cases (48.7%). The neonatal mortality rate in less than 34 weeks was 9.05%. Significant perinatal morbidity causesd in less than 34 weeks were as follows: sepsis (46.94%), respiratory distress syndrome (41.47%), patent ductus arteriosus (21.47%), retinopathy of prematurity (3.57%), necrotizing entrocolitis (1.68%), intra-ventricular hemorrhage (9%), and broncho-pulmonary dysplasia (0.84%). Conclusion: Preterm birth is associated with adverse perinatal outcome. This situation needs to be improved by directing appropriately increased resources for improving prenatal health services and providing advanced neonatal care.

Autoinducer-2 plays a crucial role in gut colonization and probiotic functionality of Bifidobacterium breve UCC2003

In the present study we show that luxS of Bifidobacterium breve UCC2003 is involved in the production of the interspecies signaling molecule autoinducer-2 (AI-2), and that this gene is essential for gastrointestinal colonization of a murine host, while it is also involved in providing protection against Salmonella infection in Caenorhabditis elegans. We demonstrate that a B. breve luxS-insertion mutant is significantly more susceptible to iron chelators than the WT strain and that this sensitivity can be partially reverted in the presence of the AI-2 precursor DPD. Furthermore, we show that several genes of an iron starvation-induced gene cluster, which are downregulated in the luxS-insertion mutant and which encodes a presumed iron-uptake system, are transcriptionally upregulated under in vivo conditions. Mutation of two genes of this cluster in B. breve UCC2003 renders the derived mutant strains sensitive to iron chelators while deficient in their ability to confer gut pathogen protection to Salmonella-infected nematodes. Since a functional luxS gene is present in all tested members of the genus Bifidobacterium, we conclude that bifidobacteria operate a LuxS-mediated system for gut colonization and pathogen protection that is correlated with iron acquisition.

Bifidobacterium breve UCC2003 metabolises the human milk oligosaccharides lacto-N-tetraose and lacto-N-neo-tetraose through overlapping, yet distinct pathways

In this study, we demonstrate that the prototype B. breve strain UCC2003 possesses specific metabolic pathways for the utilisation of lacto-N-tetraose (LNT) and lacto-N-neotetraose (LNnT), which represent the central moieties of Type I and Type II human milk oligosaccharides (HMOs), respectively. Using a combination of experimental approaches, the enzymatic machinery involved in the metabolism of LNT and LNnT was identified and characterised. Homologs of the key genetic loci involved in the utilisation of these HMO substrates were identified in B. breve, B. bifidum, B. longum subsp. infantis and B. longum subsp. longum using bioinformatic analyses, and were shown to be variably present among other members of the Bifidobacterium genus, with a distinct pattern of conservation among human-associated bifidobacterial species.

Gengivite Ulcerativa Necrosante (GUN)

Introdução: A Gengivite Ulcerativa Necrosante (GUN) é uma das patologias orais com mais décadas de estudo. A sua designação foi evoluindo ao longo dos anos até ter sido englobada na categoria das doenças periodontais necrosantes (DPN). As lesões provocadas pela GUN são consideradas únicas entre as doenças periodontais, principalmente pela sua apresentação clínica bastante distinta (Rowland, 1999). Apesar de ser uma doença com sinais muito próprios e fatores predisponentes bem estabelecidos, a etiologia e patogénese das lesões são muito mal compreendidas. O objetivo deste trabalho é efetuar uma revisão bibliográfica dos principais conceitos relativos a esta doença, defini-la e classificá-la, assim como fazer uma abordagem ao seu diagnóstico e respetivo plano de tratamento. Materiais e Métodos: Foi realizada uma pesquisa na base de dados da PubMed e da b-ON, utilizando como palavras-chave: “Necrotizing ulcerative gingivitis”, AND “Necrotizing periodontal disease”. Apenas foram pesquisados artigos em português e inglês, não tendo sido empregues quaisquer limites temporais, resultando num total de 32 artigos, complementado com uma obra literária. Resultados/Conclusões: Após análise da literatura é possível verificar que, mesmo os estudos mais recentes, revelam muitas dúvidas sobre esta doença, apesar das décadas de existência. Porém todos os estudos são unânimes em realçar um aspeto muito importante, a realização de um diagnóstico precoce é a chave para um tratamento adequado, criando, aos pacientes, as condições mínimas necessárias para uma adequada higiene oral e alimentação, que até aí a doença os obrigava a privar.

Factores asociados a mortalidad en pacientes con enfermedades autoinmunes en cuidado intensivo, Hospital de la Samaritana 2007-2013

Introducción y objetivos: Las enfermedades autoinmunes en cuidado intensivo están relacionadas con tasas de mortalidad elevadas. El propósito del presente estudio fue buscar factores asociados a mortalidad en estos pacientes. Materiales y métodos: estudio observacional de casos incidentes, retrospectivo, en base a revisión de historias clínicas de los pacientes que ingresaron a la unidad de cuidado intensivo del Hospital Universitario de la Samaritana; se recolecto un total de 68 eventos con los que se evaluó la relación de las variables estudiadas con mortalidad. Resultados: Las enfermedades autoinmunes se presentan más frecuentemente en mujeres (66%), el lupus eritematoso sistémico fue la afección reumatológica más común (36%), el promedio de edad fue de 46 años, la media de días en ventilación mecánica fue de 10 (desviación estándar 13 días), el valor del APACHE promedio fue de 19 puntos, el sistema orgánico más afectado fue el renal (58,5%) y la mortalidad global fue de 40%. Se encontró asociación estadísticamente significativa con cinco variables: presencia de shock al ingreso a UCI OR: 7,368 (IC95% 1,886-28,794); nivel de procalcitonina mayor a 10 OR: 5,231 (IC95% 1,724-15,869); complemento C3 consumido OR: 4,014 (IC95% 1,223-13,173); serositis en la radiografía de tórax OR: 3,771 (IC95% 1,238-11,492); recuento de plaquetas menor a 100.000 OR: 3,33 (IC95%: 1,037-10,714). Conclusión: Existen factores que pueden estar asociados con mortalidad en pacientes con enfermedades autoinmunes en cuidado intensivo, su detección temprana y manejo oportuno podría mejorar el pronóstico de estos pacientes.

Caracterización y prevalencia del compromiso ocular en pacientes con enfermedad autoinmune y autoinflamatoria en un centro de referencia reumatológica en Colombia entre los años 2000 a 2015

RESUMEN Objetivo: Estimar la prevalencia de las diferentes enfermedades oftalmológicas que aparecen en el contexto de una enfermedad autoinmune (EAI) en pacientes de un centro de referencia reumatológica en Colombia, según características clínicas y sociodemográficas durante un período de 15 años, comprendido entre los años 2000 a 2015. Métodos: Se realizó un estudio descriptivo, observacional de prevalencia. El tipo de muestreo fue aleatorio estratificado con asignación proporcional en el programa Epidat 3.4. Los datos se analizaron en el programa SPSS v22.0 y se realizó análisis univariado de las variables categóricas, para las variables cuantitativas se realizaron medidas de tendencia central. Resultados: De 1640 historias clínicas revisadas, se encontraron 634 pacientes (38,65%) con compromiso ocular. Si excluimos los pacientes con SS, que por definición presentan ojo seco, 222 pacientes (13,53%) presentaron compromiso oftalmológico. Del total de pacientes, el 83,3% fueron mujeres. La AR fue la enfermedad autoinmune con mayor compromiso oftalmológico con 138 pacientes (62,2%), y en último lugar la sarcoidosis con 1 solo paciente afectado. La QCS fue la manifestación más común en todos los grupos diagnósticos de EAI, con 146 pacientes (63,5%). De 414 pacientes con Síndrome de Sjögren (SS) y QCS 8 presentaron compromiso ocular adicional, siendo la uveítis la segunda patología ocular asociada en pacientes con SS y la primera causa en las espondiloartropatias (71,4 %). Los pacientes con catarata (4,1%) presentaron la mayor prevalencia de uso de corticoide (88.8%). De 222 pacientes, 28 (12,6%) presentaron uveítis. Del total de pacientes, 16 (7,2%) presentaron maculopatía por antimalaráricos y 6 (18,75%) de los pacientes con LES. Los ANAS se presentaron en el 100% los pacientes con trastorno vascular de la retina. Los pacientes con epiescleritis presentaron la mayor proporción de positivización de anticuerpos anti-DNA. La EAI que más presentó epiescleritis fue LES con 4 pacientes (12,5%) El 22% de paciente con anticuerpos anti-RNP presentaron escleritis y 32,1% de los pacientes con uveítis presentaron HLA-B27 positivo. Las manifestaciones oftalmológicas precedieron a las sistémicas entre un 11,1% y un 33,3% de los pacientes. Conclusión: Las enfermedades oculares se presentan con frecuencia en los pacientes colombianos con EAI (38.65%), siendo la AR la enfermedad con mayor compromiso ocular (62,2%) y la QCS la enfermedad ocular con mayor prevalencia en todas las EAI (63,5%). La uveítis se presentó en 28 pacientes (12,6%). Las manifestaciones oftalmológicas pueden preceder a las sistémicas. El examen oftalmológico debe ser incluido en los pacientes con EAI, por ser la enfermedad ocular una comorbilidad frecuente. Adicionalmente, los efectos oftalmológicos de las medicaciones sistémicas utilizadas en EAI deben ser estrechamente monitorizados, durante el curso del tratamiento.