Conservative management of knee arthropathy in a patient with Klippel Trenaunay syndrome / Manejo conservador da artropatia do joelho em paciente com síndrome de Klippel-Trenaunay

Abstract Klippel-Trenaunay syndrome (KTS) is a rare vascular malformation characterized by capillary malformation, venous malformations, and soft tissue or bone hypertrophy that affect the extremities in most cases. Knee or hip arthropathy are common associated conditions and cause serious disability. We present the case of a patient with a diagnosis of KTS and severe knee arthropathy. A 34-year-old man with KTS was referred to our hospital with severe knee arthropathy, with the joint fixed in a 90° position. CT Angiography and MRI of the left leg showed important varicose development of the superficial venous system with intraarticular vessels. After discussion of the case by a multidisciplinary committee, the patient was enrolled on a physiotherapy program and had achieved significant improvements in movement and quality of life at 12-month follow-up. Treatment of KTS is primarily conservative and a multidisciplinary approach is necessary.

Resumo A síndrome de Klippel-Trenaunay (SKT) é uma malformação vascular rara caracterizada por malformação capilar, malformações venosas e hipertrofia de tecidos moles ou ósseos que afetam as extremidades na maioria dos casos. A artropatia do joelho ou do quadril é uma condição comumente associada e causa sérias deficiências. Apresentamos o caso de um paciente com diagnóstico de SKT e artropatia grave do joelho. Um homem de 34 anos com SKT foi encaminhado ao nosso hospital com artropatia grave do joelho com articulação fixa na posição de 90 °. A angiotomografia e a ressonância magnética da perna esquerda mostraram importante desenvolvimento varicoso do sistema venoso superficial com vasos intra-articulares. Após o caso ser discutido em um comitê multidisciplinar, o paciente foi incluído em um programa de fisioterapia, obtendo uma melhora significativa nos movimentos e na qualidade de vida após 12 meses de acompanhamento. O tratamento da SKT é principalmente conservador e exige uma abordagem multidisciplinar.

Jaccoud arthropathy in systemic lupus erythematosus: clinical and serological findings

OBJECTIVE: To study the prevalence of Jaccoud arthropathy (JA) in a sample of local systemic lupus erythematosus (SLE) patients and its clinical and serological associations. METHODS: 308 SLE patients from a single university center for the last two years were interviewed and examined. The presence of JA was searched for according to the JA index. After this, charts were reviewed for clinical and serological profile. RESULTS: The studied sample was composed by 94.5% females and 5.5% males with mean age of 38.08 ± 12.04 years and mean disease duration of 29.68 ± 11.63 years. A JA prevalence of 6.1% was found in this sample. There was a positive association of JA presence with arthritis complaints (p = 0.001) and a negative association with renal involvement (p = 0.028). Patients with JA had higher positivity for anti-dsDNA (p = 0.022). CONCLUSION: Despite the positive association of JA with arthritis and anti-dsDNA, there was a negative association with nephritis. This could suggest that JA patients belong with a SLE subset with a better prognosis.

Periodontal disease and systemic complications

Periodontal diseases comprise a number of infectious and inflammatory conditions brought about by the interaction between supragingival and subgingival biofilms and the host inflammatory response. Periodontal diseases should be considered systemic conditions. This means that they are both modulated by the body's systems and play a role as a risk factor for systemic derangements. The current evidence supports some of these interactions, such as smoking as a risk factor for periodontal disease and diabetes mellitus, as both influenced by and influencing inflammatory changes in the periodontal tissue. Other potential associations are still being researched, such as obesity, hormonal changes, cardiovascular disease, and adverse outcomes in pregnancy. These, and others, still require further investigation before the repercussions of periodontal disease can be fully elucidated. Nevertheless, at the present time, the treatment of periodontal diseases-and, most importantly, their prevention-enables adequate intervention as a means of ensuring periodontal health.

Úvea y enfermedades sistémicas / Uvea and systemic diseases

El ojo, además de entregarnos el sentido de la visión, también nos permite conocer la salud general del organismo. Muchas enfermedades sistémicas se manifiestan en el órgano visual antes, durante o después del debut de ellas a nivel sistémico. Este compromiso visual es variado y depende de la enfermedad en cuestión, destacando la escleritis, uveítis y vasculitis retinales. Conocer el estado ocular permitirá al clínico realizar diagnósticos más asertivos y oportunos, realizar el tratamiento más adecuado y definir pronóstico en varias enfermedades, que tienen al globo ocular como un órgano blanco. El objetivo de esta revisión es atraer la atención del lector sobre el compromiso oftalmológico en varias enfermedades

The eye besides giving us sight, it let us know the general health of the whole body as well. Many systemic diseases become evident in the visual organ before, during or after its systemic onset. The visual involvement in these diseases is wide and depends on the underlying disease. It is worth to stand out the escleritis, uveitis and retinal vasculitis. The knowledge of the ocular health will let the physician to diagnose more accurately and in time, to start the most appropriate treatment and to define the prognosis of several diseases that have the eye as a target organ. The aim of this review is to draw the reader's attention to the ophthalmic involvement in several systemic diseases

Common mental disorders and chronic non-communicable diseases in adults: a population-based study / Transtornos mentais comuns e enfermidades crônicas em adultos: estudo de base populacional

A cross-sectional population-based study was conducted to identify the prevalence of common mental disorders and verify the association with chronic non-communicable diseases (NCDs) and the self-reported number of chronic diseases. The Self-Reporting Questionnaire (SRQ-20) was applied in a multi-stage random sample of 1,276 adults aged 40 and older. Socio-demographic, behavioral, and health-related variables were also obtained using a structured questionnaire. Prevalence of common mental disorders was 30.2 percent. Lower schooling and social class and the 46-55-year age bracket were associated with psychiatric morbidity. Each chronic illness was independently associated with common mental disorders. However, a stronger association was found between common mental disorders and the total number of self-reported chronic conditions, with a prevalence ratio of 4.67 (95 percentCI: 3.19-6.83) for five or more self-reported NCDs. The current study emphasizes the importance of common mental disorders in chronically ill patients, particularly in those with more total chronic conditions.

Estudo transversal de base populacional foi conduzido tendo como objetivos avaliar a prevalência dos transtornos mentais comuns e verificar sua associação com determinadas enfermidades crônicas e com o número de doenças crônicas relatadas pelo indivíduo. Para a avaliação de transtornos mentais comuns, o Self-Reporting Questionnaire (SRQ-20) foi aplicado em 1.276 adultos com 40 anos ou mais. Variáveis sócio-demográficas, comportamentais e relacionadas à saúde foram obtidas por meio de um questionário estruturado. Os transtornos mentais comuns apresentaram uma prevalência de 30,2 por cento, estando associados à baixa escolaridade e classe social, e à faixa etária de 46-65 anos. Todas as doenças crônicas pesquisadas mostraram-se associadas aos transtornos mentais comuns. Entretanto, o número de enfermidades apresentadas pelo indivíduo teve maior importância do que cada uma delas individualmente, com uma razão de prevalência de 4,67 e intervalo de 95 por cento de confiança: 3,19-6,83 para cinco ou mais doenças relatadas. O presente estudo realça a importância de se atentar para os transtornos mentais em indivíduos com enfermidades crônicas, principalmente naqueles que se apresentam com um grande número de doenças.

Coxalgia en el adulto joven: enfoque actual / Coxalgia in young adults: current approach

El pinzamiento femoroacetabular es reconocido hoy como una de las principales causas de coxalgia en el adulto joven y corresponde a la primera causa de artrosis la cuarta y sexta década de la vida. El pinzamiento se produce debido a una incongruencia entre el acetábulo y la cabeza femoral; el origen de ésta puede ser principalmente de la porción femoral, tipo CAM, y/o de origen acetabular tipo PINCER. Es un fenómeno dinámico y progresivo en el tiempo, cuyo tratamiento es básicamente quirúrgico, a través de cirugía artroscópica, teniendo como objetivo la restitución de la anatomía normal de la cadera. Los resultados a mediano y largo plazo están en directa relación con el daño articular al momento de la cirugía, teniendo los mejores resultados en pacientes jóvenes y sin artrosis.

Hip impingement syndrome or femoro-acetabular impingement (F Al) is a well known cause of hip pain in the young-adult group, and it is also the main cause of arthritis among people in their forties to sixties. F Al is caused by an offset between the femoral head and acetabulum. This deformity may be mainly present on the femoral side: CAM type, and/or in the acetabular side: PINCER type. It is a dynamic and progressive concern that can be treated with arthroscopic surgery. The main goal of surgery is to restore the normal shape of the hip joint. Mid to long-term results for this procedure depend on age and joint status at the moment of the surgery. Younger, non arthritic patients respond better.

Relationship of Facet Tropism with Degeneration and Stability of Functional Spinal Unit

PURPOSE: The authors investigated the effect of lumbar facet tropism (FT) on intervertebral disc degeneration (DD), facet joint degeneration (FJD), and segmental translational motion. MATERIALS AND METHODS: Using kinetic MRI (KMRI), lumbar FT, which was defined as a difference in symmetry of more than 7degrees between the orientations of the facet joints, was investigated in 900 functional spinal units (300 subjects) in flexion, neutral, and extension postures. Each segment at L3-L4, L4-L5, and L5-S1 was assessed based on the extent of DD (grade I-V) and FJD (grade 1-4). According to the presence of FT, they were classified into two groups; one with FT and one with facet symmetry. For each group, demographics, DD, FJD and translational segmental motion were compared. RESULTS: The incidence of FT was 34.5% at L3-L4, 35.1% at L4-L5, and 35.2% at L5-S1. Age and gender did not show any significant relationship with FT. Additionally, no correlation was observed between DD and FT. FT, however, wasfound to be associated with a higher incidence of highly degenerated facet joints at L4-L5 when compared to patients without FT (p < 0.01). Finally, FT was not observed to have any effects upon translational segmental motion. CONCLUSION: No significant correlation was observed between lumbar FT and DD or translational segmental motion. However, FT was shown to be associated significantly with the presence of high grades of FJD at L4-L5. This suggests that at active sites of segmental motion, FT may predispose to the development of facet joint degeneration.

Coxalgia en el niño: de la clínica al diagnóstico / Hip pain in children

El dolor de la cadera en niños es un motivo de consulta de relativa frecuencia en pediatría, pudiendo ser causado por patología propia de la cadera o referida. La acuciosidad semiológica y el conocimiento de las distintas etiologías permiten un adecuado análisis, evitando secuelas derivadas de un diagnóstico y tratamiento tardío.

Tumoral calcinosis of the foot with unusual presentation in an 11-year-old boy: a case report and review of literature.

Tumoral calcinosis is an uncommon disorder characterized by development of calcified masses within the soft tissues near the large joints such as the hip, elbow and shoulder and rarely occurs in the foot. We report the clinical, radiological and magnetic resonance imaging findings in a case of tumoral calcinosis of the foot observed in an 11-year-old boy which caused erosion of underlying bone and describe the surgical treatment and pathology results.

Role of HLA B27 in diagnosis of seronegative spondyloarthropathies.

Seronegative Spondyloarthropathies (SSA) is a very common problem in our area. The main aim of present study was (1) to find the HLA B27 positivity in patients presenting with sacroileitis (2) to see the correlation of B27 positivity on haematological, radiological and extra articular manifestations. Total 110 patients of SSA were studied between July 2004 to June 2005. Routine haematological and immunological test were done by standard method. Total positivity of B27 in SSA was 43.63%, HLA B27 positivity was higher in children (68.75%). Sex wise analysis of B27 positive cases showed that 81.81% B27 positive patients were males. In HLA B27 positive cases lower spine, hip, sacroiliac, shoulder and knee joints were more involved (77.08%, 79.16%, 79.16%, 37.50% and 50.00% respectively). Urinary tract infection (UTI), diarrhoea and constipation were more common in B27 positive cases. Leukocytosis of neutrophilic type (33.33%), raised ESR (77.55%)., CRP positivity (63.63%) and anaemia (65.00%) were seen more frequently in B27 positive cases. In bilateral sacroiliitis diagnosed by X-ray, only 69.23% patient were B27 positive. Our study concludes that HLA B 27 positivity is higher in SSA seen in childhood and in young adult males. B27 positive patients have more severe disease and systemic manifestation Hence, male patients specially young adolescent or young adults with sacroileitis must be subjected for B27 typing.

A influência das doenças crônicas na capacidade funcional dos idosos do Município de São Paulo, Brasil / The effect of chronic diseases on functional status of the elderly living in the city of São Paulo, Brazil

O objetivo principal deste estudo foi investigar a influência de doenças crônicas (hipertensão arterial, diabetes mellitus, doença cardíaca, doença pulmonar, câncer e artropatia) na capacidade funcional (atividades de vida diária - AVDs - e atividades instrumentais de vida diária - AIVDs) dos idosos, controlando por idade, sexo, arranjo familiar, educação e presença de outras comorbidades. Os dados foram obtidos do Projeto SABE que inclui pessoas de 60 anos e mais, residentes no Município de São Paulo, Brasil, entre janeiro de 2000 e março de 2001. A amostra foi constituída de 1.769 idosos. Para a análise dos dados foi utilizada a regressão logística multinomial múltipla. Em comparação com a categoria de referência independente, as doenças que exercem uma significativa influência na categoria dependente nas AIVDs são a doença cardíaca (OR = 1,82), a artropatia (OR = 1,59), a doença pulmonar (OR = 1,50) e a hipertensão arterial (OR = 1,39). Quanto à resposta na categoria dependente nas AIVDs e AVDs, os resultados mostram que a doença pulmonar (OR = 2,58), a artropatia (OR = 2,27), a hipertensão arterial (OR = 2,13) e a doença cardíaca (OR = 2,10) demonstram um forte efeito. Os resultados são estatisticamente significativos (p < 0,05).

The main focus of this study was the effect of chronic disease (hypertension, diabetes mellitus, heart disease, lung disease, cancer, and arthropathy) on the functional status (activities of daily living - ADL, instrumental activities of daily living - IADL) among the elderly, controlling for age, gender, living arrangements, education, and comorbidity. The analysis was based on information provided by the SABE Project, from the city of São Paulo, Brazil, including individuals 60 years of age and over (n = 1,769), from January 2000 to March 2001. A multinomial logistic regression model was used. Compared to the absence of dependency category, heart disease (OR = 1.82), arthropathy (OR = 1.59), lung disease (OR = 1.50), and hypertension (OR = 1.39) were the main diseases that affected the IADL dependency category. Lung disease (OR = 2.58), arthropathy (OR = 2.27), hypertension (OR = 2.13), and heart disease (OR = 2.10) had important impact on the IADL and ADL dependency categories. The results were statistically significant (p < 0.05).

Ganglion cyst of the proximal tibiofibular joint causing foot drop-diagnostic problem of differentiating from neuritic leprosy.

A six-year old boy presented with pain around the knee joint and abnormal gait of one month duration. There was no history of hypopigmented anaesthetic patches, neuritis or family history of leprosy. Clinical examination revealed a localized cystic swelling of 1 x 1 cm in size in the region of left common peroneal nerve, with sensory loss on the lateral aspect of the left leg which was mistaken for a nerve abscess.

Estudo genético-clínico e molecular em portadores de síndrome de Stickler: análise do gene COL2A1 / Study molecular genetic-physician and in carriers of syndrome of Stickler: analysis of gene COL2A1

Com objetivo de identificar possível correlação entre genótipo e fenótipo, nós avaliamos os sinais clínicos de 92 indivíduos, pertencentes a 25 famílias brasileira, com diagnóstico clínico de síndrome de Stickler e realizamos análise de mutação do gene COL2A1 nos propósitos. Quatorze mutações foram encontradas, sendo 13 mutações nulas e 1 mutação com sentido. Os indivíduos com mutação nula apresentam fenótipo típico de síndrome de Stickler, com grande variabilidade clínica. A paciente com mutação com sentido (Gli25Ala) apresentou fenótipo atípico, caracterizado por anomalia de sistema nervoso central, atraso leve no desenvolvimento neuropsicomotor, hipotonia generalizada e fácies atípico associado à fissura de palato e a anomalias oculares graves. Este foi considerado fenótipo variante da síndrome de Stickler. Mutações localizadas no domínio amino (N) da proteína cursam com freqüência aumentada de glaucoma, enquanto que mutações no domínio da tripla hélice, próximo ao domínio carboxila (C), cursaram com freqüência menor de anomalias oculares graves. Indivíduos com mutações em bases conservadas do sítio de splice mostram fenótipo ocular mais brando, sugerindo a ocorrência de redução quantitativa na expressão do alelo mutante. Além das 14 mutações patogênicas, foram encontradas outras 11mutações raras, as quais não foram observadas em controles normais. Nenhuma destas mutações foi considerada patogênica. Dois aspectos clínicos foram considerados importantes para o diagnóstico clínico: a freqüência alta de casos familiares (78 por cento) entre os indivíduos com mutação do gene COL2A1 e a freqüência alta de hipoplasia da metade distal lateral da tíbia (100 por cento dos indivíduos avaliados)...

Audiçäo, fala e linguagem na síndrome de Stickler: relato de caso / Hearing, speech and language in Stickler Syndrome: case report

Este relato visa apresentar as manifestaçöes de audiçäo, fala e linguagem de uma criança atendida por equipe multidisciplinar no Ambulatório dos Distúrbios da Comunicaçäo Humana da Universidade Federal do Estado de Säo Paulo (UNIFESP) com diagnóstico genético de Síndrme de Stickler. A avaliaçäo foram observadas alteraçöes fenotípicas relacionadas ao crânio e à face, dificuldade de interaçäo, intençäo comunicativa restrita, tempo de atençäo reduzido, fala inteligível e ecolalia. Seräo comentados os exames complementares bem como aspectos de evoluçäo no processo de fonoterapia. Este relato de caso ressalta a importância da abordagem multidisciplinar na formulaçäo das hipóteses diagnósticas e no esabelecimento de condutas que contribuam para o prognóstico do paciente.

Manejo de pseudoartrosis congénita de tibia en el Instituto Nacional de Pediatría. Experiencia de 24 años / Congenital pseudoarthrosis of the tibia. Experience in the National Institute of Pediatrics of Mexico in 24 years

En el Servicio de Ortopedía del Instituto Nacional de Pediatría, México, D.F., se realizó un estudio retrospectivo, analizando 23 expedientes clínicos y radiográficos de pacientes con diagnóstico de pseudoartrosis congénita de tibia captados entre 1970 y 1994 con el fin de determinar los resultados obtenidos con los métodos quirúrgicos practicados. Se analizaron otras variables mostrando predominio del sexo masculino (14 casos), mayor afección de la extremidad derecha (15 casos); asociación con neurofibromatosis en el 65 por ciento de los casos; la mayoría de los pacientes fueron captados entre los 2 y 8 años; el tipo II de pseudoartrosis fue el más frecuente (47 por ciento) seguido por el tipo V (34 por ciento); no hubo en estos pacientes antecedentes hereditarios; se presentaron más pacientes de Michoacán (6 vasos) y D.F. (5 casos). De un total de 10 técnicas quirúrgicas realizadas 3 fueron las más comunes; hubo consolidación completa en 14 pacientes, 4 sin consolidación y 5 casos perdidos. Seis pacientes presentaron infección como complicación y las secuelas más comunes fueron acortamiento y deformidad angular. Dos casos requirieron amputación

El ecocardiograma en la evaluacion del compromiso cardíaco en las espondiloartropatias seronegativas / Echocardiography in the evaluation of cardiac involvement in seronegative spondylo-arthropathies

Se estudió compromiso cardíaco en pacientes con espondiloartropatías seronegativas utilizando la ecodopplercardiografía. De los 35 pacientes, 20 eran portadores de espondilitis anquilosantes, 10 de síndrome de Reiter y 5 presentaban artritis psoriásica. Se estudiaron 21 hombres y 14 mujeres de entre 17 y 68 años. La mayoría (65,71 por ceinto) no presentaba sintomatología cardíaca y 12 (34, 29 por ciento) eran oligosintomáticos. El sintoma predominante era palpitaciones. Todos fueron sometidos a un estudo ecodoppler y electrocardiográfico. El ecocardiograma mostró alteraciones en 19 pacientes (54, 29 por ciento), de ellos, el 28,50 por ciento era asintomáticos y el 25,71 por ciento presentaba síntomas cardiovasculares. El examen bidimensional fue el que detectó mayor número de alteraciones (17/19-84,47 por ciento), en tanto que el Doppler pulsado detectó 10 de los 19 (52,63 por ceinto) y unidimensional (9/19-47,36 por ciento). La válvula aórtica estaba comprometida en 10 pacientes (28,58 por ciento) de los que 7 tenían engrosamiento y 3 calcificación; la válvula mitral mostraba alteraciones en 11 enfermos (57,89 por ciento), engrosamientos en 9, calcificación en 1 y prolapso en 2. No se observaron alteraciones en las válvulas tricúspide y pulmonar. El Doppler pulsado detectó 4 insuficiencias aórticas y 3 mitrales. El compromiso valvular aórtico estaba presente en 8 (40 por ciento) de los pacientes con espondilitis anquilosante. El examen electrocardiográfico presentó una bradicardia sinusal, un bloqueo aurículo-ventricular de 1er grado, un bloqueo de rama derecha y 19 casos con ATc prolongado. El ecocardiograma demostró ser un método no invasivo de gran utilidad para revelar alteraciones cardíacas en los pacientes con espondiloartropatías seropnegativas

Artritis séptica en enfermedades del tejido conectivo y otras artropatías crónicas / Septic arthritis in connective tissue diseases and other chronic arthropathies

Se estudiaron retospectivametne 17 casos de artritis séptica en pacientes portadores de enfermedades del tejido conectivo ECT). Las ETC más frecuentes fueron Lupus Eritematoso Sistémico y Artritis Reumatoidea. El compromiso fue oligoarticular en el 64% de los casos y monoarticular en los restantes. Los hallazgos clínicos, radiológicos y de laboratorio fueron insuficientes para realizara el diagnóstico diferencial entrea Artritis Séptica y brote de la enfermedad de base, el cual sólo pudo ser realizado por aislamiento del agente etiológico en el líquido sinovial. El germen más frecuente fue Staophylococcus aureus. Los pacientes fueron tratados con punción y antibioticoterapia por vía parenteral (promedio: 7 días) completándose por vía oral (46 días). los casos con mayor retraso del comienzo de tratamiento presentaron como complicación. Los casos con mayor retraso del comienzo de tratamiento presentaron como complicación osteomielitis, requiriendo artrotomía y mayor incidencia de secuelas funcionales