Novel gene mutation causing type 3 Von Willebrand disease: a case report and review of literature

Von Willebrand disease (VWD) Type 3 is an uncommon bleeding disorder, resulting from the near absence of Von Willebrand factor (VWF) and extremely low factor-VIII levels. It is a close differential diagnosis of hemophilia. A wide heterogeneity of VWD mutations are reported in the literature. We report a 16-year-old girl with hemarthrosis, finally diagnosed with Type 3 VWD. Clinical exome sequencing confirmed the diagnosis, revealing a homozygous mutation c.4387G>T (p. Glu1463Ter) in exon 28 of the VWF gene, a unique mutation not yet reported in the literature.

Effectiveness of viscosupplementation in the treatment of hemophilic arthropathy: a systematic review / Efetividade da viscossuplementação no tratamento da artropatia hemofílica: uma revisão sistemática

ABSTRACT Objective: To describe the efficacy of using viscosupplementation in patients with hemophilic arthropathy (HA), on pain, limb functionality, and quality of life. Methods: A systematic review of the literature was performed following the PRISMA guidelines without limitations of language or year of publication. The search was performed on the following medical databases: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost, and PROQUEST in April 2020. The search used the following word: (hemophilia AND joint diseases) OR (haemophilic arthropathy OR hemophilic arthropathy) AND viscosupplementation. Results: The systematic review identified 127 articles, 10 of which were selected for data extraction and qualitative analysis. The 10 selected articles included 297 joints with HA in 177 hemophilic subjects. Our review showed positive results in alleviating pain and improving functional capacity, and quality of life. No major adverse effects were observed. Conclusion: There is a lack of scientific evidence regarding viscosupplementation with hyaluronic acid, but the results presented in this research suggest that it is an effective and safe therapeutic option to alleviate pain and improve functional capacity in patients with HA. Level of Evidence II, Systematic Review.

RESUMO Objetivo: Descrever o uso da viscossuplementação com ácido hialurônico em pacientes com artropatia hemofílica (HA), sua eficácia na dor, a funcionalidade do membro e a qualidade de vida após sua aplicação. Métodos: Revisão sistemática da literatura (RSL) que seguiu as diretrizes PRISMA, sem limitação de idioma ou ano de publicação. A pesquisa foi realizada em abril de 2020 nas seguintes bases de dados médicas: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost e ProQuest. A estratégia de pesquisa foi: (hemofilia AND joint disease) OR (artropatia hemofílica OU artropatia hemofílica) E viscossuplementação. Resultados: A RSL identificou 127 artigos, dos quais 10 foram selecionados para extração de dados e análise qualitativa. Os 10 artigos selecionados incluíram 297 articulações com AH em 177 indivíduos hemofílicos. Nossa revisão mostrou resultados positivos na melhora da dor, na capacidade funcional e na qualidade de vida. Não foram observados efeitos adversos importantes. Conclusão: A evidência científica atual a respeito da viscossuplementação com ácido hialurônico é escassa, mas os resultados apresentados nesta pesquisa sugerem que é uma opção terapêutica eficaz e segura para diminuir a dor e melhorar a capacidade funcional em pacientes com AH. Nível de Evidência II, Revisão Sistemática.

Therapeutic options for hemarthrosis in severe hemophilic patients / Opções terapêuticas para as hemartroses em pacientes hemofílicos graves

Introduction: Hemophilia A and B are rare congenital X-linked recessive diseases caused by lack or deficiency of the coagulation factors VIII (FVIII) or IX (FIX), respectively. The primary therapeutic approach is to replace the deficient coagulation factor, which can be achieved with factors derived from human plasma or recombinants. However, despite having a therapeutic approach, most severe cases are symptomatic and may have complications, mainly in the muscles and joints. One example of such disorder is hemarthrosis. This manifestation tends to affect mainly the knee, ankle, or elbow joints in about 80% of cases. Objective: to describe the primary forms of treatment for joint bleeding in patients with severe hemophilia. Methods: This is a qualitative research of the integrative review type meant to identify productions on topics associated with hemarthrosis and severe hemophilia. The articles were searched through the databases PubMed, Scientific Electronic Library Online (Scielo) and Virtual Health Library (BVS) with the following search descriptors: "hemarthrosis and hemophilia"; "joint diseases and Hemophilia" and corresponding terms in Portuguese. The inclusion criteria were as follows: a) scientific articles b) available in full-text c) studies available in Portuguese, English, or Spanish d) randomized clinical trials e) articles published between 2016 and 2021 f) articles containing hemarthrosis caused by severe hemophilia. As exclusion criteria, texts that had no relation to the theme, did not answer the guiding question, other types of articles that did not include randomized clinical trials and/or presented duplicates were discarded. Results: In total, 42 articles were found in the selected databases; eight were duplicated, and 25 were excluded for not being randomized clinical trials or because they did not contemplate the theme. After careful reading, nine articles that met the inclusion and exclusion criteria were identified. Of the eligible studies, one reported factor replacement, and eight reported physiotherapeutic treatment. Conclusion:Factor replacement for hemophilic patients is essential and, based on the information obtained, early replacement is ben-eficial for the patient to avoid joint complications. Prophylaxis is indicated in severe hemophilia and its main objective is to prevent recurrent hemarthrosis, which can cause permanent functional deformities. Some physiotherapeutic interventions are indicated to prevent joint damage in severe hemophilic patients. The findings show diversity in the physical therapy modalities employed. The complete prevention of joint damage is still a challenge. A combination of treatments and a multi-disciplinary team follow-up is necessary to ensure health and quality of life of patients. (AU)

Introdução: As hemofilias A e B são doenças congênitas raras, recessivas ligadas ao X, causadas por falta ou deficiência de fator de coagulação VIII (FVIII) ou IX (FIX), respectivamente. A terapêutica tem como conduta principal a reposição do fator de coagulação deficiente, podendo ser feita com fatores derivados de plasma humano ou recombinantes. Porém, apesar de possuir uma terapêutica, grande parte dos casos graves são sintomáticos e podem ter complicações, na sua maioria, nos músculos e nas articulações. Uma dessas desordens é a hemartrose. Essa manifestação tende a acometer principalmente articulações do joelho, tornozelo ou cotovelo em cerca de 80% dos casos. Objetivo: descrever as principais formas de tra-tamento para sangramento articular em pacientes com hemofilia grave. Método: Trata-se de uma pesquisa qualitativa do tipo revisão integrativa para identificação de produções sobre temas associados a hemartrose e hemofilia grave. A busca dos artigos foi através das bases de dados PubMed, Scientific Electronic Library Online (SciELO) e Biblioteca Virtual em Saúde (BVS) com os seguintes descritores de busca: "hemarthrosis and hemophilia"; "joint diseases and hemophilia" e termos correspondentes no português. Os critérios de inclusão foram os seguintes: a) artigos b) estar disponível em texto completo c) estudos disponíveis nos idiomas português, inglês ou espanhol d) ensaios clínicos randomizados e) artigos publicados entre 2016 e 2021 f) artigos que contemplem hemartrose por hemofilia grave. Resultados: No total, foram encontrados 42 artigos nas bases de dados selecionadas; oito estavam duplicados e 25 foram excluídos por não serem ensaios clínicos randomizados ou por não contemplarem a temática. Após leitura cuidadosa, foram identificados 9 artigos que atenderam aos critérios de inclusão e exclusão. Dos trabalhos elegíveis, um relatou sobre reposição de fator e oito artigos relataram sobre tratamento fisioterapêutico. Conclusão: A reposição de fatores para pacientes hemofílicos é essencial e, com base nas informações obtidas, a reposição precoce é benéfica para o paciente, evitando complicações articulares. A profilaxia está indicada na hemofilia grave e seu principal objetivo é prevenir a hemartrose recorrente, que pode causar deformidades funcionais permanentes. Algumas intervenções fisioterapêuticas são indicadas para prevenir danos articulares em pacientes hemofílicos graves. Os achados mostram diversidade nas modalidades de fisioterapia empregadas. A prevenção total dos danos articulares ainda é um desafio. É necessária uma combinação de tratamentos e acompanhamento por equipe multi-disciplinar de forma a garantir a saúde e qualidade de vida dos pacientes. (AU)

Effect of patellar resurfacing surgery on bleeding in total knee arthroplasty

SUMMARY OBJECTIVE: Postoperative bleeding is one of the most important factors affecting clinical and functional results in total knee arthroplasty. Therefore, many studies have been conducted on bleeding in arthroplasty patients. However, there are very few reports investigating the effect of patellar surface replacement on bleeding in knee arthroplasty. We, therefore, aimed to investigate the effect of patellar surface replacement on postoperative bleeding. METHODS: In this retrospective study, 30 with patellar resurfacing were compared with 39 without patellar resurfacing among patients who had undergone total knee replacement due to primary osteoarthritis. Demographic data, amount of transfusion, preoperative and postoperative hemoglobin and hematocrit values, and total, visible, and hidden blood loss values were recorded. RESULTS: No statistical difference was found between the two groups in terms of demographic values. There was no significant difference between the groups in terms of the amount of blood in the drain, total blood loss, hidden blood loss, and blood transfusion in patients who had and had not undergone patellar resurfacing. A positive significant correlation was found between postoperative drainage volume and total blood loss. CONCLUSION: Patellar component application in patients who had undergone total knee arthroplasty does not change the blood loss of the patients.

Yttrium-90 radiosynovectomy in knees and ankles (25 joints in 22 hemophilic patients). Short-term results

ABSTRACT Introduction: The radiosynovectomy (RS) is one treatment option for recurrent hemarthrosis in patients with hemophilia (PWH). A prospective cohort study was designed to evaluate the effects of the RS on the synovial membrane volume in the ankles and knees of PWH and patient characteristics related to the RS outcome. Methods: In a one-year follow-up, 25 joints of 22 PWH who presented 3 bleeds or more in the same joint over the last 6 months (target joints) were subjected to the RS. Two groups were compared: those who retained target joints following the RS and those who did not (less than 3 bleeds/6 months after the RS). The groups were analyzed according to age, hemophilia type/severity, joint, body mass index (BMI), inhibitor and Hemophilia Joint Health Score 2.1 (HJHS). The magnetic resonance images (MRI) of six ankles and six knees were acquired prior to, and 6 months after, the RS. The synovial membrane volume and arthropathy MRI scale were accessed and volumes were compared and correlated with the Yttrium-90 dose injected. Results: Patients with a mean age of 12 years and a mean HJHS of 6.7 (p < 0.05) retained target joints after the RS. The inhibitor, joint, type/severity of disease and BMI showed no significant differences between groups. The synovial membrane volume had a significant reduction after the RS (p = 0.03), but no correlation with the Yttrium-90 dose. In proportion to the synovial membrane volume, doses injected to the ankles were larger than those injected to the knees. Conclusion: The synovial membrane volume is reduced after the RS, regardless of the effective 90Y dose.

Avaliação da Força Muscular em Adultos com Hemofilia de uma Associação de Pacientes em Brasília / Assessment of Muscle Strength in Adults with Hemophilia from an Association of Patients in Brasília / Evaluación de la fuerza muscular en adultos con hemofilia de una asociación de pacientes en Brasilia

Objetivo: avaliar a força muscular periférica em adultos portadores de hemofilia, por meio da dinamometria manual, e verificar a diferença da força muscular de acordo com a classificação de gravidade da hemofilia. Método: Participaram da pesquisa 20 homens divididos em 2 grupos, um com hemofílicos e um controle; foi aplicada uma ficha avaliativa seguida do teste de preensão palmar. Resultados: Quando comparados os dois grupos, foi observada diferença estatística significativa nas variáveis estatura (p=0,007) e força de preensão dos lados dominante (p=0,04) e não dominante (0,002), favorecendo o grupo controle; quando comparada a força de preensão dos hemofílicos com a doença leve e grave, houve diferença significativa para o lado não dominante (p=0,01). Conclusão: Pode-se associar a diminuição de força de preensão para o grupo de hemofílicos à sua condição de doença crônica hereditária. Entretanto, como o número de participantes foi pequeno, esses resultados sugestivos, mostram a necessidade de mais estudos sobre o tema

Objective: to evaluate peripheral muscle strength in adults with hemophilia, through manual dynamometry, and to verify the difference in muscle strength according to the classification of hemophilia severity. Method: Twenty men participated in the research, divided into 2 groups, one with hemophiliacs and one control; an evaluation form was applied, followed by the handgrip test. Results: When the two groups were compared, a statistically significant difference was observed in the variables height (p=0.007) and grip strength of the dominant (p=0.04) and non-dominant (0.002) sides, favoring the control group; when comparing the grip strength of hemophiliacs with mild and severe disease, there was a significant difference for the non-dominant side (p=0.01). Conclusion: The decrease in grip strength for the group of hemophiliacs can be associated with their condition of hereditary chronic disease. However, as the number of participants was small, these suggestive results show the need for more studies on the subject.

Objetivo: El objetivo del estudio fue evaluar la fuerza muscular periférica en adultos con hemofilia, mediante dinamometría manual, y verificar la diferencia en la fuerza muscular según la clasificación de severidad de la hemofilia. Método: Participaron de la investigación 20 hombres, divididos en 2 grupos, uno con hemofílicos y otro control; Se aplicó un formulario de evaluación, seguido de la prueba de agarre. Resultados: Al comparar los dos grupos, se observó una diferencia estadísticamente significativa en las variables altura (p = 0,007) y fuerza de agarre en los lados dominantes (p = 0,04) y no dominantes (0,002), favoreciendo al grupo control; al comparar la fuerza de agarre de los hemofílicos con la enfermedad leve y grave, hubo una diferencia significativa para el lado no dominante (p = 0,01). Conclusión: La disminución de la fuerza de prensión del grupo de hemofílicos puede estar asociada a su condición de enfermedad crónica hereditaria. Sin embargo, como el número de participantes fue pequeño, estos sugerentes resultados muestran la necesidad de más estudios sobre el tema.

Clinical Profile of Hemophilia in Children in a Tertiary Care Hospital in North India

Hemophilia is congenital X-linked disorder of the coagulation system whereby deficiency of factor VIII(hemophilia A) or factor IX (hemophilia B) predisposes the affected male to a lifelong risk of bleeds. Early andadequate support with factor replacement will prevent death from fatal bleeds. However, awareness levelsamong students and general practitioners continued to be very low resulting in delayed and inappropriatemanagement. The present study designed to focus on the presentation, genetic aspects and management ofhemophiliac children. Clinical profile of 119 diagnosed cases of hemophilia up to 18 years of age was analyzed.Out of a total 119 cases enrolled mean age of the patients was 9.5 years with an age range of 6 months to 18years. 97(81%) cases were hemophilia A and 22 (18.4%) cases were hemophilia B. Only 48(40.0%) caseshad family history of bleeding with 71 (60%) had no history of bleeding in family. Among the hemophilia A50.4% (52.5%) cases had mild, 45.2 (47.5%) cases had moderate disease and among the hemophilia B, 9.5(40%) cases had mild, 11.5 (50%) cases had moderate and 2.3 (10%) cases had severe disease. Hemarthrosisof knee joint was the major presentation followed by ankle, elbow, shoulder followed by circumcision andtooth extraction bleeding. 62% of the hemophiliacs in our study had initial bleeding episode before 1 year ofage and by 6 years of age 94% of cases had developed symptoms of bleeding evidence. No patient had historyof bleeding during neonatal period. It is concluded that hemarthrosis found to be the leading cause of presentation;bruises and hematomas either spontaneous or traumatic were the chief complaints at the presentation of thesechildren.

Rheumatoid arthritis combined with pigmented villonodular synovitis: A case report and literature review / 北京大学学报(医学版)

We reported a case of rheumatoid arthritis (RA) combined with pigmented villonodular synovitis (PVNS) from Peking University People's Hospital. The clinical data were introduced and the related literature was reviewed. The clinical features, treatment and prognosis of the disease were summarized to improve clinicians' understanding of this rare disease and avoid misdiagnosis and delayed diagnosis. A 45-year-old female, with 15 years of RA history and unregular treatment, was admitted to the hospital with the complaint of aggravating pain and swelling in the right knee for 3 months. The puncture of the right knee was performed and there was a large amount of bloody synovial fluid that could not be explained by her RA history. Moreover, the magnetic resonance imaging (MRI) of the right knee revealed hemosiderin deposition with low-intensity signals on both T1-weighted and T2-weighted images which suggested PVNS to us. Then, the patient underwent knee arthroscopy and biopsy to assist in diagnosis. The arthroscopic appearance and pathology were consistent with PVNS and the hyperplastic synovium was removed during arthroscopy. After the operation, she did active functional exercises and took disease-modifying antirheumatic drugs to control RA. She recovered well and remained asymptomatic after half a year of follow-up. Also, there was no recurrence of the right knee. As we all know, RA is a systemic autoimmune disease characterized by chronic synovitis and joint damage. And PVNS is characterized by synovial proliferation and infiltrative process. Both of them are synovial involvement and the clinical manifestations are quite similar. PVNS has occasionally been reported in association with RA. So it is difficult to make a clear diagnosis of RA combined with PVNS. Literature was searched with RA+PVNS in the WanFang Medical Network Database and China National Knowledge Infrastructure and there were no related Chinese cases. Then we searched literature from PubMed with RA+PVNS. The cases were still rare and eventually 2 related articles were yielded including 2 similar patients. It is necessary to fully understand the disease development, complicated MRI appearance and various pathological morpho-logy. They can contribute to making a correct diagnosis which is effective to guide the proper treatment.

Sinoviortesis con radioisótopos en hemofilia: Experiencia de un centro en Chile / Radionuclide synoviorthesis in hemophilia: experience in 107 patients

Background: In patients with hemophilia, radionuclide synoviorthesis, or the intra-articular injection of a radionuclide to decrease the synovial hypertrophy tissue, aims to decrease or avoid hemarthrosis. Aim: To evaluate the effectiveness of radionuclide synoviorthesis in hemophilia. Material and Methods: Observational retrospective study of the evolution of 107 male patients aged 3 to 54 years who were subjected to radionuclide synoviorthesis between 2007 and 2015. Results: Of 164 treated joints, in 65% treatment was successful, (defined as zero to two hemarthroses and absence of synovitis during the follow up period), in 17% it was partially successful (defined as two or less hemarthroses, but persistence of the synovitis) and failed in 18% of the procedures. No important complications were recorded. Conclusions: Radionuclide synoviorthesis has an overall 82% success rate, is minimally invasive, can be used at any age and is inexpensive We recommend its implementation in Chilean hemophilia treatment centers.

Hemarthrosis Occurred after Arthroscopic Rotator Cuff Repair in a Chronic Renal Failure Patient with a Stenosis in an Ipsilateral Arteriovenous Fistula / 대한정형외과학회잡지

Hemarthrosis occurring after arthroscopic surgery for lesions of the shoulder joint is a very rare complication that can develop due to an injury to the blood vessels when an anterior portal is formed. This is a complication that rarely develops in patients who are taking antithrombotic drugs or who do not have associated diseases, such as thrombocytopenia. We report a case of hemarthrosis that occurred after performing arthroscopic surgery to repair a rotator cuff tear in a patient with a stenosis in an arteriovenous fistula for hemodialysis in the ipsilateral upper arm.

Frequência de alterações posturais em hemofílicos / Frequency of postural alterations in haemophiliacs

Introduction: A hemophilia is a chronic disease of genetic origin caused by a mutation of the genes which encode blood clotting factors. One of the consequences of this alteration is the involvement of the musculoskeletal system, which may influence the posture of these individuals. Objective:To estimate the frequency of postural changes in hemophilia patients, and identify possible factors associated. Methods:A cross-sectional descriptive study, conducted with individuals aged ≥ 18 years,with diagnosis of hemophilia,in follow-up at the Hematology and Hemotherapy Foundation of Bahia (HEMOBA).The participants were submitted to postural evaluation,through visual analysis, Adams test and the application of a semi-structured form.Epi Info® (v.3.5.2) was used for data analysis and to verify the existence of associations between the variables of the study were used the Exact Fisher, Qui-Square and Qui-Square Tests with the Yates correction and considered as statistically significant associations with p <0.05.Results:Twenty-nine hemophiliacs participated in this study, with mean age of 34.98 ± 12,6 years, 25 (86.2%) reported having hemophilic arthropathy. Of the 13 research participants (68.4%) presented scoliotic posture detected by the Adams test.The change was more frequent in individuals with more than one joint affected by hemophilic arthropathy, with a statistically significant value for this variable (p = 0.039).Conclusion:The frequencies of postural changes in individuals with hemophilia are elevated with a significant association for individuals over 40 years of age and with with more than one joint affected by haemophilic arthropathy. (AU)

Introdução: A hemofilia é uma doença crônica de origem genética causada por uma mutação dos genes que codificam os fatores de coagulação sanguíneos. Uma das consequências dessa alteração é o acometimento do sistema musculoesquelético, o que pode influenciar na postura desses indivíduos. Objetivo: Estimar a frequência de alterações posturais em portadores de hemofilia, e identificar possíveis fatores associados. Métodos: Estudo descritivo de corte transversal, conduzido com indivíduos com idade ≥ 18 anos, com diagnóstico de hemofilia, em acompanhamento na Fundação de Hematologia e Hemoterapia da Bahia (HEMOBA). Os participantes foram submetidos à avaliação postural, por meio da análise visual, teste de Adams e aplicação de um formulário semi-estruturado. Empregou-se o Epi Info® (v.3.5.2) para análise dos dados e, para verificar a existência de associações entre as variáveis do estudo foram utilizados os Testes exato de Fisher, Qui-quadrado (bicaudal) e Qui-Quadrado com a correção de Yates. Consideradas como estatisticamente significantes associações com p <0,05. Resultados: Participaram deste estudo 29 hemofílicos, com média de idade de 34,9 ± 12,6 anos, 25 (86,2%) informaram ter artropatia hemofílica. Dos participantes da pesquisa 13 (68,4%) apresentaram postura escoliótica detectada pelo teste de Adams. A alteração foi mais frequente nos indivíduos com mais de uma articulação afetada pela artropatia hemofílica, com valor estatisticamente significativo para esta variável (p= 0,039). Conclusão: As frequências de alterações posturais em indivíduos com hemofilia são elevadas com associação significativa para os indivíduos com idade superior a 40 anos e com mais de uma articulação afetada pela artropatia hemofílica. (AU)

Treatment of Recurrent Hemarthrosis after Total Knee Arthroplasty

PURPOSE: The purpose of this study is to evaluate the incidence and treatment of recurrent hemarthrosis after total knee replacement (TKR). MATERIALS AND METHODS: Among a total of 5,510 patients who underwent TKR from March 2000 to October 2016, patients who had two or more bleeding 2 weeks after surgery were studied. Conservative treatments were performed for all cases with symptoms. In patients who did not respond to conservative treatment several times, embolization was performed. We retrospectively evaluated the postoperative bleeding time, bleeding frequency, treatment method, and outcome. RESULTS: Seventeen (0.3%) of the 5,510 patients developed recurrent hemarthrosis. Bleeding occurred at an average of 2 years 3 months after the operation. Joint aspiration was performed 3.5 times (range, 2 to 10 times) on average, and 14 cases (82.3%) were treated with conservative treatment. In 3 patients with severe bleeding and hemorrhage, embolization was performed. CONCLUSIONS: Recurrent hemarthrosis after TKR is a rare disease with a low incidence of 0.3% and usually could be treated by conservative treatment. If recurrences occur repeatedly, embolization through angiography or surgical treatment may be considered, but the results are not satisfactory and careful selection of treatment modalities is warranted.

Hemarthrosis subtalar, a rare diagnosis / Hemartrose subtalar, um diagnóstico raro

ABSTRACT Type B hemophilia usually affects patients with a family history of this disease and has a typical clinical picture. However, in the present case it appeared in a patient outside the typical age with no family history of hematologic malignancies and with an unusual clinical picture.

RESUMO A hemofilia do tipo B afeta normalmente pacientes com história familiar positiva para a doença e se apresenta com quadro clínico típico. No presente caso, no entanto, o diagnóstico se deu em um paciente fora da idade típica, sem histórico familiar de doenças hematológicas e quadro clínico diferente do habitual.

Sinovitis vellonodular pigmentada localizada, causa de hemartrosis en rodilla / Localized pigmented vellonodular sunovitis, cause of knee hemarthrosis

Resumen: La sinovitis vellonodular pigmentada (SVP) es una neoplasia benigna con proliferación sinovial y depósito de hemosiderina, se caracteriza por comprometer grandes articulaciones, en especial la rodilla. En la actualidad se describen dos variantes clínicas, la forma difusa (SVPD) y la localizada (SVPL). La sinovectomía artroscópica y sinovectomía por radiación conforman el tratamiento que ha demostrado mejores resultados funcionales. La resonancia magnética nuclear es un método adecuado para establecer el diagnóstico de la SVPL.

Abstract: The pigmented vellonodular sinovitis (PVNS) is benign neoplasm with synovial proliferation and hemosiderin deposit, characterized by large compromising joints, especially the knee. At present, two variants of clinics, the diffuse form (PVNSD) and the localized (PVNSL) are described. Arthroscopic synovectomy and radiosynoviorthesis (RSO) is the treatment that has shown the best functional results. Nuclear magnetic resonance is an appropriate method for conducting the diagnosis of PVNSL.

Spontaneous elbow hemarthrosis identified by point-of-care ultrasound

Traumatic or spontaneous hemarthroses are an important cause of joint effusions, and can complicate innate or acquired coagulopathies. The elbow is an unusual location for a spontaneous hemarthrosis; we describe a previously unreported case of warfarin-induced spontaneous elbow hemarthrosis, diagnosed by point-of-care ultrasound. On the basis of clinical and ultrasound findings arthrocentesis was deferred, and the patient was successfully treated with warfarin reversal and conservative care. Physical examination is unreliable for the detection of a joint effusion, and misdiagnosis and can lead to unnecessary investigation or resource use. Point-of-care ultrasound allows accurate, prompt, direct visualization of a joint effusion, and non-invasive confirmation of a hemarthrosis. Ultrasound can facilitate accurate diagnosis and characterization of joint effusions to improve the care of patients with coagulopathy.

A Clinico-Pathological Study of Hemophilia in Rural Set up of Karnataka.

Haemophilia is the most common inherited coagulation disorders, with X linked recessive inheritance, affecting the males while females are the carriers of the disease. Haemophilia A and Haemophilia B are the commonest form of Haemophilia encountered and they result from defect in Factor VIII and Factor IX gene respectively. A clinico hematological study with suspected coagulation disorder was conducted over a period of two years, from June 2008 to July 2010. Of the 76 patients visited OPD, based on clinical presentation and family history, 50 cases were categorized as Hemophilia A or B after laboratory investigations. Majority (41) of the cases were categorized as Hemophilia A & only 7 cases were Hemophilia B. The mean age group of the patients was 2.87 years with an age of onset ranged between 3rd day to 5.6 years. All the cases were males and only a very rare case of female Hemophilia patient was noted. Thirty five (52.23%) patients had positive family history of bleeding. In 12 families (18.75%) there had been consanguineous marriage. Spontaneous bleeding was the predominant presenting symptom followed by Hemarthrosis and prolonged post traumatic bleeding. The knee joint was most commonly involved. Coagulation screening tests showed that 60% patients had prolonged activated partial thromboplastin time (APTT) with an average of 88 seconds. Mixing and substitution studies were very useful in distinguishing between Hemophilia A & B. Factor assays in both Hemophilia A & B showed 66% of cases with severe factor deficiency, 26% moderate and 8% with mild deficiency. In the present study an effort is made to explore, elucidate and document the clinico haematological correlation of Hemophilia in this part of Karnataka.

Therapeutic Embolization for Spontaneous Recurrent Hemarthrosis of the Knee in the Elderly / 대한정형외과학회잡지

Without traumatic history, spontaneous hemarthrosis of the knee is a relatively rare condition, and there is no report of the diagnosis and treatments in Korea. In this case, magnetic resonance imaging and arthroscopic findings showed hemarthrosis and a lateral meniscus tear. Hemarthrosis of the patient remained after meniscus resection and coagulation; we then, found rupture of the lateral geniculate artery by computed tomography-angiography. We report on a case of successful treatment of spontaneous hemarthrosis with therapeutic embolization with a thorough review of the relevant literatures.

Clinical and functional evaluation of the joint status of hemophiliac adults at a Brazilian blood center

BACKGROUND: Hemophilia is a potentially disabling condition as hemophilic arthropathy develops early in life and is progressive, especially in patients treated in an on-demand regime. Objective: This study aimed to describe the structural joint status and the functional independence score of hemophiliac adults and correlate structural damage with the functional deficits found in these patients. METHODS: Hemophiliacs at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation, aged 18 years and over and treated in an on-demand regime, were clinically evaluated in respect to structural joint damage using the World Federation of Hemophilia Physical Examination Scale (WFH-PE) and functional deficits using the Functional Independence Score in Hemophilia (FISH). The Spearman rank test was used to evaluate the correlation between the two scores. RESULTS: Thirty-nine patients were evaluated. The mean age was 36.8 years. Target joints were detected in 69.2% of patients studied. The mean Physical Examination Scale and Functional Independence Score were 16.87 and 25.64, respectively. Patients with mild hemophilia showed no significant joint involvement. Patients with severe or moderate hemophilia had similar results regarding structural damage (p-value < 0.001) and functional deficits (p-value = 0.001). There was statistical significance in the correlation between the two scores (r = -0.850; p-value = 0.01). CONCLUSIONS: The World Federation of Hemophilia Physical Examination Scale and Functional Independence Score in Hemophilia may be useful to clinically assess structural joint damage and functional deficits in hemophiliacs as the tools are inexpensive and easy to administer and may be able to detect hemophilic arthropathy, which results from recurrent hemarthrosis and is common in the population studied.

A Case of Delayed Recurrent Hemarthrosis after Percutaneous Pin Fixation of the Patellar Fracture

A 24-year-old man underwent percutaneous fixation with pins for an undisplaced patellar fracture. At 7 months follow-up postoperatively, he presented with recurrent, painful swelling of the operated knee following trivial activities of daily life. Aspiration had been performed two times before he presented to us with symptoms. An x-ray showed that one of the pins was suspected to be protruding at the inferior pole of the patella. Magnetic resonance imaging confirmed effusion in the joint. Arthroscopy revealed that the pin was prominent intraarticularly, and the adjacent infrapatellar fat pad with surrounding synovial tissue seemed to be abraded. The pins were removed under arthroscopic guidance and any pain or hemarthrosis disappeared thereafter.

Radiographical diagnosis of posttraumatic knee joints hemarthrosis and lipohemarthrosis / 中华放射学杂志

Objective To explore the imaging findings and diagnostic values of X-ray, CT, MR,and ultrasonography in traumatic knee joints hemarthrosis and lipohemarthrosis. Methods Traumatic knee joints hemarthrosis (12 knees) and lipohemarthrosis (18 knees) proved by operation (27 knees) or puncturation (3 knees) were included in the study. Horizontal-beam plain radiographs (16 knees), CT (30 knees), MRI (30 knees) and ultrasonography (24 knees) in supine position were investigated. Results (1)supine position horizontal-beam plain radiographs: Fat-liquid layer was found in 8 cases of lipohemarthrosis. Dense supragenual bursa was found in 1 case of lipohemarthrosis and 7 cases of hemarthrosis. Fracture (13 knees) was diagnosed correctly. (2) CT findings: double fluid-fluid layer was found in 11 of all 18 cases, and single fluid-fluid layer was found in 7 of 11 cases of lipohemarthrosis. Single fluid-fluid layer was found in 3 of 12 cases of hemarthrosis. Isodensity was detected in 9 cases, and high-density blood clot was found in 4 cases. Fracture (30 knees) was diagnosed correctly. (3) MRI findings: in 12 of 18 cases of lipohemarthrosis, double fluid-fluid layer was shown including supernatant layer as short T1, long T2signal and low signal after fat-suppression, middle layer as long T1, long T2 signal and high signal after fat-suppression, and dependent layer as iso-T1, iso-T2 and slight high signal after fat-suppression. Single fluid-fluid layer was seen in 6 cases, only had aforementioned upper and under layer.Only aforementioned supernatant layer and dependent layer were seen in 12 cases of hemarthrosis. 4 cases showed entire blood clot in fluid, T1WI showed middle signal or center iso-signal accompanied with peripheral high signal ring, and fat-suppression imaging showed high signal. T2WI and fat-suppressionimaging showed middling or high signal accompanied with peripheral low signal ring. Fracture (30 knees) was diagnosed correctly. (4) Ultrasound findings: In 10 of 14 cases of lipohemarthrosis, double fluid-fluid level was shown, supernatant layer as equal echo, middle layer as echoless, and dependent layer as cloudy echo. Four cases with single fluid-fluid level only showed aforementioned upper and under layer. Three of 10 cases of hemarthrosis showed single fluid-fluid level, only showing aforementioned upper and under layer,and 7 cases showed cloudy echo and float. In 3 cases the fluid blood clot showed irregular shape low-equal echo bolus. No fracture hne was found. Conclusions CT can clearly detect fracture line, hemarthrosis and lipohemarthresis, and can substitute plain radiography. MRI is the best way to diagnose hemarthresis and lipohemarthrosis. Ultrasonography can be used in diagnosing hemarthresis and lipohemarthrosis but not helpful in the diagnosis of fracture.