Profil épidémiologique des thrombopathies constitutionnelles dans l'ouest algérien / Epidemiological profile of constitutional thrombopathies in western Algeria

Introduction. Comme pour toutes les maladies rares ou maladies orphelines, l'étude des thrombopathies devrait être multicentrique pour recenser le maximum ou tous les patients dans une région ou dans le pays concerné. Notre étude a pour objectif d'évaluer la prévalence des thrombopathies constitutionnelles dans l'Ouest Algérien, et décrire ainsi les caractéristiques épidémiologiques de notre population. Patients et méthodes. Il s'agit d'une étude descriptive régionale du profil épidémiologique de 61 patients de l'Ouest Algérien présentant une thrombopathie constitutionnelle. Résultats. Dans notre étude a trouvé 34 thrombasthénies de Glanzmann (TG), 18thrombopathies de Jean Bernard Soulier (JBS), 08thrombopathies de May-Hegglin (MH) et un syndrome de Scott avec une prévalence globale de 1,8/1 million habitants. Conclusion. Notre travail nous a permis d'avoir un contexte global sur les thrombopathies constitutionnelles qui serait sans doute la base d'autres études de caractère clinique, biologique ou même moléculaire surtout en matière de recrutement de patients.

Introduction. As with all rare or orphan diseases, the study of inherited platelet disorders should be multicentric to identify as many or as few patients as possible in a given region or country. The aim of our study is to evaluate the prevalence of inherited platelet disorders in Western Algeria, and thus describe the epidemiological characteristics of our population. Patients and methods. This is a regional descriptive study of the epidemiological profile of 61 patients in Western Algeria with inherited platelet disorders. Results. In our study we found 34 Glanzmann thrombasthenias (TG), 18 Jean Bernard Soulier thrombopathies (JBS), 08 May-Hegglin thrombopathies (MH) and one Scott syndrome with an overall prevalence of 1.8/1 million inhabitants. Conclusion. Our work has allowed us to have a global context on inherited platelet disorders which would undoubtedly be the basis of other studies of clinical, biological or even molecular character especially in terms of patient recruitment.

Trastornos hereditarios de la coagulación en adolescentes con sangrado menstrual excesivo, ¿debemos evaluar la vía fibrinolítica? / Inherited bleeding disorders in adolescents with excessive menstrual bleeding: should we evaluate the fibrinolytic pathway?

Resumen: Introducción: El Sangrado Menstrual Excesivo (SME) es un problema frecuente en la adolescencia. La prevalencia de trastornos hereditarios de la coagulación (THC) como causa del SME no está bien establecida y la participación de defectos de la vía fibrinolítica ha sido poco explorada. Objetivo: Determinar la prevalencia de THC y defectos de la fibrinólisis en adolescentes con SME. Pacientes y Método: Se incluyeron 93 adolescentes, edad 11 a 18 años. Los antecedentes personales y familiares de sangra do se obtuvieron con un cuestionario estandarizado. Se controló exámenes: tiempo de protrom- bina (TP), tiempo de tromboplastina parcial activada (TTPa), estudio del factor Von Willebrand, recuento y función plaquetaria. Los pacientes que no fueron diagnosticados como THC, se evaluaron adicionalmente con el tiempo de lisis del coágulo. Resultados: 41 pacientes (44%) fueron diagnos ticados como THC: Enfermedad de Von Willebrand n = 28, defectos de la función plaquetaria n = 8, hemofilia leve n = 5. Se confirmó disminución del tiempo de lisis del coágulo en 31 pacientes. El 54% de pacientes diagnosticado como THC, tuvo SME como la primera manifestación hemorrágica. Conclusión: Estos resultados apoyan la necesidad de evaluación de la coagulación, incluyendo la vía fibrinolítica, en el estudio de adolescentes con SME.

Abstract: Introduction: Heavy Menstrual Bleeding (EMB) is a frequent problem in adolescence. The prevalence of inherited bleeding disorders (IBD) as a cause of EMB is not well established and the involvement of fibri nolytic pathway defects has been poorly explored. Objective: To determine the prevalence of IBD and fibrinolysis defects in adolescents with EMBs. Patients and Method: 93 adolescents (11 to 18 years old) were included. Personal and family history of bleeding were obtained through a standard ized questionnaire. The following lab tests were performed: prothrombin time (PT), activated partial thromboplastin time (aPTT), von Willebrand factor quantification, and platelet count and function. Those patients who were not diagnosed with IBD were further evaluated with clot lysis time assay. Results: 41 patients (44%) were diagnosed as IBD (Von Willebrand disease n = 28, platelet func tion defects n=8, mild hemophilia n = 5. Decreased clot lysis time was found in 31 patients. 54% of patients diagnosed with IBD had EMB as the first hemorrhagic manifestation. Conclusion: These results support the need to evaluate the coagulation process, including the fibrinolytic pathway in the study of adolescents with EMB.

Home therapy for inherited bleeding disorders in south Africa: results of a modified delphi consensus process

Background. Optimal care of patients with inherited bleeding disorders requires that bleeding episodes are treated early, or still better prevented, through extension of patient care beyond hospital-based treatment to home-based therapy. In South Africa (SA), adoption of home therapy is variable, in part owing to lack of consensus among healthcare providers on what constitutes home therapy, which patients should be candidates for it, how it should be monitored, and what the barriers to home therapy are.Objectives. To conduct a modified Delphi process in order to establish consensus on home therapy among haemophilia healthcare providers in SA.Methods. Treaters experienced in haemophilia care were invited to participate in a consensus-seeking process conducted in three rounds. In round 1, provisional statements around home therapy were formulated as questions and collated in a structured list. In rounds 2 and 3, evolving versions of the questionnaire were administered to participants. Consensus was defined as ≥70% agreement among the participants.Results. The panel composition included an equal number of physicians and non-physicians. The participation rate was 100% through all three consensus rounds. The group reached consensus for 92% of the statements. Consensus of 100% was reached on starting home therapy in paediatric patients, requiring all patients on home therapy to sign informed consent and indemnity, and providing round-the-clock support for patients on home therapy.Conclusions. The home therapy consensus statements in this report have the potential to translate to policy on home therapy and to guide the initiation, practice and evaluation of home therapy programmes in SA

Osteocondroma solitario del tercio proximal del fémur. Indicación y resultados de la exceresis sin luxación de la cadera / Solitary osteochondroma of the proximal third of the femur. Indication and results of exceresis without hip dislocation

Los osteocondromas constituyen el grupo de tumores óseos benignos más frecuentes en cadera, solitarios o como parte de una enfermedad exostosante múltiple; pueden ser asintomáticos o sintomáticos. Se tratan para evitar el riesgo de una degeneración sarcomatosa relativamente frecuente en este sitio. El propósito del estudio es revisar la entidad a partir de experiencia hospitalaria con énfasis en las manifestaciones clínicas y tratamiento. Se reporta el caso de un paciente masculino de 22 años e historia de hemofilia, que presentó una tumoración ósea a nivel de cadera derecha que los limita rangos de movilidad

Osteochondromas constitute the group of benign bone tumors most frequent in the hip, solitary or as part of a multiple exostosante disease; They can be asymptomatic or symptomatic. They are treated to avoid the risk of a relatively frequent sarcomatous degeneration at this site. The purpose of the study is to review the entity based on hospital experience with emphasis on clinical manifestations and treatment. The case of a 22-year-old male patient and a history of hemophilia is reported, who presented a bone tumor at the right hip level that limits mobility ranges.

Conhecimento dos cirurgiões-dentistas em atendimento de pacientes com coagulopatias hereditárias / Knowledge of dentists in the care of patients with hereditary coagulopathies

Objetivo: verificar o conhecimento dos cirurgiões-dentistas que trabalham nas Unidades Básicas de Saúde (UBS) com Equipes de Saúde Bucal (ESB) modalidade I, no município de Campina Grande, sobre o atendimento odontológico de pacientes com coagulopatias hereditárias. Sujeitos e método: por meio de questionário autoaplicável, foi feita uma entrevista com os cirurgiões-dentistas do município em questão para analisar os seus conhecimentos. Participaram da pesquisa 24 profissionais que se encaixaram nos critérios de inclusão e responderam de forma adequada o questionário com questões objetivas, sendo que os participantes foram orientados a assinalar somente uma alternativa para cada questionamento. Resultados: a maioria dos profissionais é formada há mais de 10 anos. A média de acertos das respostas foi de 50%. Em relação aos achados clínicos que determinam a possível presença de distúrbio hemorrágico, 44% afirmaram que são: púr-pura, sangramento gengival espontâneo e hemartrose. Os pacientes considerados de risco elevado para o tratamento odontológico foram: pacientes sem distúrbios hemorrágicos revelados, mas com exames complementares alterados; pacientes em tratamento com AAS; e pacientes em tratamento com anticoagulante por via oral. A maioria (68%) não considera a utilização de sugadores de saliva como risco para sangramento bucal. Os procedimentos odontológicos que os profissionais não se sentem seguros a executar, nesse tipo de paciente, foram: exodontias (88%); tratamento periodontal cirúrgico (76%); raspagem e alisamento coronoradicular (RACR) (28%); anestesia do nervo alveolar inferior ou outros (24%); tratamento endodôntico (20%); e anestesia infiltrativa (8%). Conclusão: os dados obtidos na pesquisa mostraram que o conhecimento dos cirurgiões-dentistas das UBS do município de Campina Grande não é satisfatório, havendo dúvidas sobre a maioria dos tratamentos odontológicos direcionados aos pacientes com coagulopatias hereditárias. (AU)

Objective: this study aimed to determine the knowledge of dentists working in UBS with ESB mode I in the city of Campina Grande on Patients with hereditary Coagulopathies. Through self-administered questionnaire, own and without exclusion criteria, an interview was conducted with dental surgeons of the municipality concerned to analyze their knowledge of the relevant topic. By itself and without exclusion criterion an interview was made with the dentists concerning to analyze their knowledge about hereditary coagulopathies. Subjects and method: the participants were 24 dentists which fit the inclusion criteria and responded adequately to the questionnaire which contained objective questions, and the respondents were asked to point out only one alternative of each questioning. Results: most of them were graduated over 10 years. The mean score was 50% of the questionnaire. In relation to clinical findings that determine the possible presence of bleeding disorder, 44% said they are: purple spontaneous gingival bleeding and hemarthrosis; patients considered at high risk for dental treatment were patients without bleeding disorders disclosed but with altered exams; patients being treated with ASA; and patients treated with anticoagulant orally. Most dentists (68%) do not consider the use of saliva-sucking as a risk for oral bleeding. Dental procedures that professionals do not feel safe running in those patients were: extractions (88%); surgical periodontal treatment (76%); RACR (28%); anesthesia of nerve alveolar inferior or other (24%); endodontic treatment (20%); and infiltrative anesthesia (8%). Conclusion: the data obtained from the survey showed that knowledge of dentists from Campina Grande municipality is not satisfactory and there is doubt on most dental treatments targeted to patients with inherited bleeding disorders. (AU)

Diagnóstico laboratorial de coagulopatías hemorrágicas en pacientes del Hospital Nacional de Itauguá / Laboratory diagnosis of hemorrhagic coagulopathies in patients of the National Hospital of Itauguá

Introducción: la hemostasia es el conjunto de sistemas que actúan coordinadamente para mantener la integridad de los vasos sanguíneos y la fluidez de la sangre; la alteración puede desencadenar trastornos trombóticos o hemorrágicos, dependiendo de la naturaleza de la falla. Objetivos: describir las coagulopatías hemorrágicas que se registraron en el departamento de laboratorio del Hospital Nacional de Itauguá, desde julio 2014 hasta diciembre 2015, obtener frecuencia y datos demográficos, edad, sexo, procedencia y clasificar las coagulopatías según deficiencias de factores de la coagulación, vía extrínseca, vía intrínseca y vía común final; sospecha de inhibidores adquiridos y enfermedad de von Willebrand. Material y Métodos: diseño observacional, descriptivo, retrospectivo de corte trasverso; incluyéndose pacientes de ambos sexos, todas las edades, derivados de médicos hematólogos. Resultados: se registraron 77 pacientes con coagulopatías hemorrágicas en el Laboratorio, 43 fueron del sexo masculino, de 1 a 75 años, mediana 18 años; 31% (24/77) con deficiencias del factor VII, todos leves, edades 7 a 75 años. En la vía intrínseca, la deficiencia del factor VIII o Hemofilia A, fue la más observada 29%(22/77), mayoría severas (13/22), mientras que déficit de factor IX, Hemofilia B, en 4 pacientes 5%(4/77). 85% Hemofilia A y 15% Hemofilia B, edades 1 y 64 años, mediana 13,5 años, todos del sexo masculino; no se registraron deficiencias de FXI y FXII en el periodo de estudio. De la vía común final, se encontraron 3 pacientes con hipofibrinogenemia, 1 con probable disfibrinogenemia, 1 con déficit de Factor II, 2 de Factor V y 2 de Factor X, 2 adultas, y el resto pediátricos; estas deficiencias son muy poco frecuentes, Factor I, V y X de 1/1.000.000 y FII 1/2.000.000 personas. Quince pacientes con sospecha de inhibidores, dos de ellas con inhibidor específico anti-FVIII, y probables inhibidores de interferencia. Se confirmó el primer déficit de factor Von Willebrand, en una mujer de 47 años. Conclusiones: entre las coagulopatías hemorrágicas de mayor frecuencia, se encuentran las Hemofilias A y B, seguida de deficiencias del factor VII y probables inhibidores de interferencia, los dos casos de inhibidores específicos anti Factor VIII fueron en pacientes con Hemofilia A severa. Fue relevante también el hallazgo de deficiencias de la vía común de la coagulación, a pesar de ser poco frecuentes. Algunos pacientes fueron diagnosticados en edad adulta, reflejando lo tardío que se llega al diagnóstico en el país.

Introduction: hemostasis is the set of systems that work in concert to maintain the integrity of blood vessels and blood flow; alteration can trigger thrombotic disorders or bleeding, depending on the nature of the fault Objective: describe hemorrhagic coagulopathy registered in the Medical Laboratory Department diagnosis at the National Hospital of Itauguá, from July 2014 to December 2015, obtain frequency and demographics, age, sex, origin and classify coagulopathy in to deficiencies of coagulation factors of the extrinsic pathway, intrinsic pathway, and common pathway; suspicion acquired inhibitors and von Willebrand's disease. Material and Methods: the design was an observational, descriptive, retrospective cross sectional study; being including patients of both sexes, all ages, referred by hematologists. Results: 77 patients with hemorrhagic coagulopathies, were female 43 male and 34 female, from 1 to 75 years, median age of 18 years; 31% (24/77) with factor VII deficiency, all mild, ages 7 to 75, 1 / 500,000 appears. In the intrinsic pathway, the factor VIII deficiency or hemophilia A, was the most observed 29% (22/77) severe majority (13/22), while Factor IX deficit, Hemophilia B, in 5% of patients (4/77). 85% Hemophilia A, and 15% Hemophilia B, ages 1 to 64 years, median age of 13.5 years, all male; no FXI and FXII deficiencies were recorded in the study period.Of the final common pathway, 3 patients with hipofibrinogenemia were found, 1 probable dysfibrinogenaemia, 1 deficiency of FII, 2 FV and FX 2, 2 were adult and the rest were pediatric; these deficiencies are rare, FI, V and X of 1 / 1,000,000 and FII 1 / 2,000,000 people. Fifteen patients with suspected inhibitors adquired, two of them with anti-FVIII specific inhibitor, and probable interference inhibitors. The first von Willebrand, factor deficiency was confirmed in a woman of 47 years. Conclusions: among the most frequent hemorrhagic coagulation disorders, we found hemophilia A and B, followed by deficiencies of factor VII and probable interference inhibitors both cases of specific inhibitors of factor VII were found in patients with severe Hemophilia A. Some patients were diagnosed in adulthood

Utilization Patterns of Coagulation Factor Consumption for Patients with Hemophilia

Hemophilia is a serious rare disease that requires continuous management and treatment for which the medicine is costly at the annual average of 100 million KRW for an individual. The aim of this study was to investigate trends in the utilization of coagulation factor (CF) used for hemophilia treatment using the National Health Insurance database from 2010 to 2013 in Korea and compare the utilization of CF with other countries. The consumption of CF per capita (IU) in Korea was not more than other countries with similar income to Korea. However, CF usage per patient IU was higher because the prevalence rate of hemophilia in Korea was lower than in other countries while the number of serious patients was much more. Therefore, it is difficult to say that the consumption of hemophilia medicine in Korea is higher than that in other countries. The consumption and cost of hemophilia medicine in Korea is likely to increase due to the increased utilization of expensive bypassing agents and the widespread use of prophylaxis for severe hemophilia. Even during the research period, it increased slightly and other countries show a similar trend. Thus, hemophilia patient management should accompany active monitoring on the health and cost outcomes of pharmaceutical treatment in the future. This study is expected to contribute to further insight into drug policies for other countries that face similar challenges with high price pharmaceuticals.

Temporomandibular disorder: prevalence among hemophiliac patients / Trastorno temporomandibular: prevalencia en pacientes hemofílicos

The objective was to investigate the prevalence of temporomandibular dysfunction ­TMD - in severe and moderate hemophiliac A and B patients and healthy men as control group. Hemophilia complication is chronic arthropathy that results from repeated joint bleeding, leading to limited movement. Limitation of jaw movement is present in patients with TMD. Hemophiliac patients were recruited in the Hemophilia outpatient clinic at Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP). The control group was composed of voluntary subjects recruited among medical and dental students of UNIFESP. Both groups were screened for TMD symptoms according to the European Academy of Craniomandibular Disorders questionnaire. The Research Diagnostic Criteria further evaluated those considered positive for TMD. The results showed a similar prevalence of TMD in the hemophiliac group compared to the control group (n= 38, n= 79; p= 0.7). There were no significant differences in severity of sign and symptoms between the groups. In conclusion, patients with hemophilia do not have a higher prevalence of temporomandibular disorders, indicating absence of hemorrhage in temporomandibular joint.

El objetivo fue investigar la prevalencia de trastornos temporomandibulares (TTM) entre pacientes hemofílicos A y B severos y moderados, y hombres sanos como grupo de control. Una complicación de la Hemofilia es la artropatía crónica como resultado de una hemorragia articular a repetición, limitando el movimiento en el tiempo. La limitación del movimiento de la mandíbula está presente en pacientes con TTM. Los pacientes hemofílicos fueron reclutados en la clínica de atención ambulatoria de hemofilia en Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP). El grupo control estaba compuesto por sujetos voluntarios reclutados entre los estudiantes de Medicina y Odontología de UNIFESP. Ambos grupos fueron evaluados por síntomas de TTM según cuestionario de trastornos craneomandibulares de la Academia Europea. Los criterios de diagnósticos de investigación evaluados se consideraron positivos para TTM. Los resultados mostraron una prevalencia similar de TTM en el grupo de hemofílicos en comparación con el grupo control (n= 38, n= 79; p= 0,7). No se encontraron diferencias significativas en la gravedad de los signos y síntomas entre los grupos. En conclusión, los pacientes con hemofilia no tienen una mayor prevalencia de trastornos temporomandibulares, indicando la ausencia de hemorragia en la articulación temporomandibular.

Intimate partner violence after the diagnosis of sexually transmitted diseases / Violência por parceiro íntimo após diagnóstico de doenças sexualmente transmissíveis

OBJECTIVE To assess the prevalence and factors associated with intimate partner violence after the diagnosis of sexually transmitted diseases. METHODS This cross-sectional study was conducted in Fortaleza, CE, Northeastern Brazil, in 2012 and involved 221 individuals (40.3% male and 59.7% female) attended to at reference health care units for the treatment of sexually transmitted diseases. Data were collected using a questionnaire applied during interviews with each participant. A multivariate analysis with a logistic regression model was conducted using the stepwise technique. Only the variables with a p value < 0.05 were included in the adjusted analysis. The odds ratio (OR) with 95% confidence interval (CI) was used as the measure of effect. RESULTS A total of 30.3% of the participants reported experiencing some type of violence (27.6%, psychological; 5.9%, physical; and 7.2%, sexual) after the diagnosis of sexually transmitted disease. In the multivariate analysis adjusted to assess intimate partner violence after the revelation of the diagnosis of sexually transmitted diseases, the following variables remained statistically significant: extramarital relations (OR = 3.72; 95%CI 1.91;7.26; p = 0.000), alcohol consumption by the partner (OR = 2.16; 95%CI 1.08;4.33; p = 0.026), history of violence prior to diagnosis (OR = 2.87; 95%CI 1.44;5.69; p = 0.003), and fear of disclosing the diagnosis to the partner (OR = 2.66; 95%CI 1.32;5.32; p = 0.006). CONCLUSIONS Individuals who had extramarital relations, experienced violence prior to the diagnosis of sexually transmitted disease, feared disclosing the diagnosis to the partner, and those whose partner consumed alcohol had an increased likelihood of suffering violence. The high prevalence of intimate partner violence suggests that this population is vulnerable and therefore intervention efforts should be directed to them. Referral health care services for the treatment of sexually transmitted ...

OBJETIVO Analisar a prevalência e fatores associados à violência por parceiro íntimo após diagnóstico de doença sexualmente transmissível. MÉTODOS Estudo transversal realizado em Fortaleza, CE, em 2012, com 221 pessoas (40,3% do sexo masculino e 59,7% do feminino) atendidas em serviços de referência para tratamento de doenças sexualmente transmissíveis. Os dados foram coletados por meio de questionário aplicado face a face aos participantes. Realizou-se análise multivariada com modelo de regressão logística, utilizando-se a técnica de stepwise. Para análise ajustada, permaneceram as variáveis que tiveram o valor de p < 0,05. Como medida de efeito, usou-se a razão de chances (OR) com intervalo de confiança de 95%. RESULTADOS Referiram ter sofrido violência após o diagnóstico de doenças sexualmente transmissíveis 30,3% dos participantes (27,6% psicológica, 5,9% física e 7,2% sexual). Na análise multivariada ajustada para sofrer violência por parceiro íntimo após a revelação do diagnóstico de doença sexualmente transmissível, mantiveram significância estatística: ter tido relações extraconjugais (OR = 3,72; IC95% 1,91;7,26; p = 0,000), parceiro usar álcool (OR = 2,16; IC95% 1,08;4,33; p = 0,026), sofrer violência antes do diagnóstico (OR = 2,87; IC95% 1,44;5,69; p = 0,003) e ter receio de revelar o diagnóstico ao parceiro (OR = 2,66; IC95% 1,32;5,32; p = 0,006). CONCLUSÕES Pessoas que tiveram relações extraconjugais, que sofreram violência antes do diagnóstico e que tiveram receio de revelar o diagnóstico ao parceiro, bem como o parceiro fazer uso de álcool, tiveram as chances aumentadas para sofrer violência. A prevalência elevada de violência por parceiro íntimo sugere que pessoas com diagnóstico de doenças sexualmente transmissíveis é uma população crítica para a qual devem ser direcionados esforços de intervenção, e que os serviços de referência para atendimento das doenças sexualmente transmissíveis podem ser locais estratégicos ...

Hemophilia A in a Senior Patient: A Case Report of Spinal Epidural Hematoma as First Presentation

Hemophilia A is a hereditary coagulation disorder. Most cases are diagnosed at birth or at least during childhood. A spontaneous spinal epidural hematoma was developed in a 74-year-old male patient who hadn't had a family or past medical history of bleeding disorders. On magnetic resonance imaging, epidural hematoma at L1-2 was accompanied by spinal stenosis at L4-5 and spondylolytic spondylolisthesis at L5. Hematoma evacuation and surgery for distal lumbar lesions were performed at once. After transient improvement, complete paraplegia was developed due to redevelopment of large epidural hematomas at L1-2 and L4-S1 which blocked epidural canal completely. Emergency evacuation was performed and we got to know that he had a hemophilia A. Factor VIII was 28% of normal value. Mild type hemophilia A could have not been diagnosed until adulthood. Factor VIII should have been replaced before the surgical decompression.

Extracciones dentales atraumáticas en pacientes pediátricos con trastornos de la coagulación: descripción de la técnica y reporte de un caso / Atraumatic tooth extractions in pediatric patients with bleeding disorders: a technical description and report of a case

Se detalla y fundamenta la técnica de extracción atraumática de dientestemporales unirradiculares en pacientes pediátricos con trastornos de lacoagulación utilizando separadores elastoméricos. Se expone el caso deun paciente pediátrico con diagnóstico de defi ciencia de factor X de lacoagulación, quien requirió de la extracción atraumática de los órganosdentarios centrales superiores temporales debido a la gingivorragiapropia de la exfoliación natural.

We describe the technique of atraumatic tooth extraction for single-rooted temporary and permanent teeth in pediatric patients with bleed-ing disorders using elastomeric separators and discuss its benefi ts. We present the case of a pediatric patient diagnosed with coagulation factor X defi ciency who required the atraumatic extraction of his temporary upper central teeth due to gingival bleeding caused by natural exfoliation.

Doenças hemorrágicas hereditárias com pouca sintomatologia hemorrágica: orientações básicas aos pacientes e familiares / Hereditary hemorrhagic diseases with little hemorrhagic symptoms: basic guidelines for patients and families

Este manual tem o objetivo de orientar os portadores de doenças hemorrágicas com baixo risco hemorragico como deficiência de Fator VIII, deficiência de Fator de von Willebrand tipos 1 e 2, Trombopatias Hereditárias entre outras.

When blood is thinner than water.

Antagonists of vitamin K dependant clotting factors are commonly used as treatment/prophylaxis for anticoagulation. Due to their narrow therapeutic window, a wide range of complications including death may occur. International normalized ratio (INR) is monitored to measure adequacy/excess of anticoagulation. There is a plethora of risk factors that may contribute to the uncontrollably high INR values. We describe our experience of a case of deep venous thrombosis wherein the patient had an overshoot of INR during anticoagulation therapy. We review the literature and discuss management in such scenarios.

Recurrent Acute Pulmonary Embolism Associated With Protein S Deficiency

Pulmonary embolism is a common clinical problem in patients with immobilization, cancer, indwelling central venous catheter and surgery. However, although rare, it may occur in patients with inherited thrombophilia. Protein S deficiency is known to increase the risk of venous thrombosis and pulmonary embolism. There are many reports of venous thrombosis with protein S deficiency, but there are few reports of arterial thrombosis, especially recurrent acute pulmonary embolism. Here, we report a case of recurrent pulmonary embolism associated with type II protein S deficiency.

Knowledge and performance among dentists regarding coagulation tests in patients with hereditary bleeding disorders and patients on anticoagulant therapy

Some of the dental procedures can cause bleeding. Bleeding control can be affected in some patients due to systemic disease or chronic anticoagulant therapy, so they may be at increased risk for bleeding events or even death following invasive dental procedures. This study was designed to evaluate the knowledge of general dentists in Qazvin city regarding coagulation tests performed in bleeding disorders during 2010-2011. A questionnaire [including 23 questions] was designed with the aid of specialists in the field of oral medicine and hematology. This questionnaire was distributed among 124 general practitioners. Data were analyzed with SPSS version 15 and T-test, one-way ANOVA and Tukey. The mean score for dentists knowledge was 8.64 +/- 1.20. There was no significant difference in the mean knowledge scores among male and female dentists. Tukey test showed a significant difference in the mean knowledge level among 31 -40 year old and over forty year old dentists [p<0.04]. This study showed that knowledge of the dentists regarding bleeding disorders is not at desirable level which requires planning for continuing education courses

Molecular genetics and clinical features of nine patients with inherited coagulation factor VII deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate potential mutations and clinical features of 9 unrelated patients with inherited coagulation factor VII (FVII) deficiency.</p><p><b>METHODS</b>Clinical diagnosis was validated by assaying of coagulation parameters including prothrombin time, activated partial thromboplastin time, FVII activity and specific antigens. All exons, exon-intron boundaries, and 5' and 3' untranslated regions of F7 genes were amplified with PCR. Potential mutations were detected by direct sequencing of purified PCR products. Suspected mutations were confirmed by sequencing of the opposite strand.</p><p><b>RESULTS</b>All probands have featured prolonged prothrombin time, with FVII activity ranging between 2.0% to 6.0%. The titers of FVII antigen were significantly reduced in 7 probands. Eight mutations, including 6 missense mutations, 1 deletion and 1 insertion, were identified, among which 3 (Gln100Leu, Ser269Pro and g.11520_11521insT) were not described previously. Six mutations have located in the protease domain. All mutations were inherited, and consanguineous marriages were reported in 5 families. Mutations g.27_28delCT, Cys329Gly, Arg304Trp and His348Gln have been identified in unrelated families. There was a lack of correlation between the mutations and their clinical features. Two individuals with homozygous His348Gln mutations and 1 individual with homozygous Arg304Trp mutation were only mildly affected or asymptomatic. Two patients, who have respectively carried homozygous and heterozygous deletions of g.27_28delCT, were moderately affected and asymptomatic. In 4 patients carrying double heterozygous mutations, 1 (Ser269Pro and Cys329Gly) was asymptomatic, 2 (Arg304Trp and Cys329Gly, Arg277Cys and g.11520_11521insT, respectively) had a mild bleeding tendency, whilst 1 (Gln100Leu and His348Gln) has a moderate bleeding diathesis.</p><p><b>CONCLUSION</b>There seem to be hotspots of F7 gene mutations in ethnic Han Chinese populations. And there is a lack of correlation between particular types of mutations and clinical phenotypes.</p>