Hemofilia adquirida tipo A

La hemofilia adquirida es un trastorno hemostático causado por la presencia de autoanticuerpos inhibidores contra el F VIII de la coagulación. Clínicamente se presenta como sangrado espontáneo, principalmente en piel y tejidos blandos, y a diferencia de la hemofilia congénita, la hemartrosis es rara. Se presenta el caso de un paciente de sexo masculino, de 60 años, previamente sano, que acude a consulta por cuadro de 8 días de evolución de aparición de hematomas a nivel de miembro superior e inferior. Durante su evolución presenta TTPA alargado y concentraciones bajas de F VIII.

Acquired hemophilia is a hemostatic disorder caused by the presence of inhibitory autoantibodies against coagulation F VIII. Clinically it presents as spontaneous bleeding, mainly in the skin and soft tissues, and unlike congenital hemophilia, hemarthrosis is rare. We present the case of a 60-year-old male patient, previously healthy, who came to the clinic due to an 8-day history of hematomas on the upper and lower limbs. During its evolution it presents prolonged APTT and low concentrations of F VIII.

Influência do tratamento fisioterapêutico na independência funcional de pessoas com hemofilia submetidas à sinovectomia radioativa / Influence of physiotherapeutic treatment on the functional independence of people with hemophilia submitted to radioactive sinovectomy

A sinovectomia radioativa (SR) é considerada o tratamento de eleição no controle da sinovite crônica não responsiva ao tratamento conservador, sendo recomendado tratamento fisioterapêutico para a melhora da funcionalidade. Objetivo: Verificar a influência do tratamento fisioterapêutico na independência funcional e saúde articular de hemofílicos após tratamento com SR. Método: Trata-se de um estudo descritivo, retrospectivo, analítico e metodologia quali-quantitativa. Realizou-se avaliação fisioterapêutica, aplicação do HJHS para avaliação da saúde articular e Escore FISH para avaliação da independência funcional. Os participantes foram subdivididos em dois grupos de acordo com a realização ou não da fisioterapia após a SR. Resultados: Participaram do estudo 8 pessoas com hemofilia A, sexo masculino, média de idade de 19±5,3 anos. Foram 12 articulações submetidas a SR, dessas 41,67% cotovelos, 33,33% joelhos e 25% tornozelos. Na comparação dos grupos, não houve diferença estatística entre os eles nas variáveis: saúde articular e a Independência Funcional. Conclusão: O estudo é uma primeira tentativa de descrever o impacto da fisioterapia na independência funcional e saúde articular de hemofílicos submetidos à SR. Embora possua limitações, foi possível observar que o grupo que não realizou fisioterapia apresentava melhor saúde articular e melhor independência funcional previamente à SR em comparação ao grupo que realizou fisioterapia; porém, o grupo fisioterapia apresentava pior quadro global, com a funcionalidade impactada por outras articulações e não somente aquela tratada com SR, apresentando maior número de articulações alvo.

Radioactive synovectomy (RS) is considered the treatment of choice in the control of chronic synovitis resistant to conservative treatment, and physiotherapy is recommended to improve functionality after procedure. Objective: The aim was to verify the effects of physiotherapy on functional independence and joint health after RS. Method: This is a descriptive, retrospective, analytical study with qualitative/quantitative methodology. Physiotherapeutic evaluation, Hemophilia Joint Health Score (HJHS) application for joint outcome assessment and Functional Independence Score in Hemophilia (FISH) were used to measure the patient's functional ability. The participants were divided into two groups: one group underwent a physiotherapy program and one not treated with physiotherapy after RS. Results: The study included 8 people with hemophilia A, all male, their mean age was 19±5.3 years. Twelve joints were submitted to RS, in which 41.67% elbows, 33.33% knees and 25% ankles. In the comparison of the groups, there was no statistically significant difference between them in joint health and functional independence. Conclusion: The study is a first attempt to describe the impact of physiotherapy on functional independence and joint health of hemophilic patients submitted to SR. Although this study has limitations, it was possible to observe that the group not treated with physiotherapy had better joint health and better functional independence prior to SR compared to the group that underwent physiotherapy, but the group treated with physiotherapy had worse overall health and have their functionality impacted by joints other than those treated with RS, presenting a higher number of target joints.

INFLUÊNCIA DOS DISTÚRBIOS HEREDITÁRIOS DE COAGULAÇÃO NO REPARO DE LESÕES PERIRRADICULARES / INFLUENCE OF HEREDITARY COAGULATION DISORDERS ON THE REPAIR OF PERIRRADICULAR INJURIES

Lesão perirradicular é uma doença de etiologia microbiana, cuja evolução possui forte relação com a resposta imunológica do hospedeiro, que ocorre no intuito de conter essa infecção. O tratamento endodôntico nesses casos tem como objetivo biológico final a desinfecção do sistema de canais radiculares para possibilitar o reparo da região periapical. Esse reparo é um processo complexo que consiste em hemostasia, inflamação, proliferação celular, maturação e remodelação. Diversos estudos vêm sendo realizados no intuito de relacionar fatores sistêmicos ou hábitos adquiridos com o desenvolvimento, diagnóstico, severidade e cura das lesões perirradiculares. Essas condições são referidas como modificadores da doença e podem esclarecer o surgimento de sintomatologia dolorosa em casos assintomáticos, a cura tardia de algumas lesões, e explicar o porquê alguns canais adequadamente tratados resultam em fracasso. As doenças hereditárias de coagulação causam alterações na hemostasia dos portadores, gerando propensão para sangramento abundante e modificações importantes na cicatrização de feridas. Essa revisão bibliográfica identificou as associações existentes entre os transtornos hereditários de coagulação mais comuns (hemofilias A e B e doença de von Willebrand) e o reparo de lesões endodônticas e concluiu que tal condição clínica pode afetar as respostas imunes, interferindo no reparo perirradicular.

Periradicular injury is a disease of microbial etiology, whose evolution has a strong relationship with the host's immune response, which occurs in order to contain this infection. The endodontic treatment in these cases has the ultimate biological objective of disinfecting the root canal system to enable repair of the periapical region. This repair is a complex process consisting of hemostasis, inflammation, cell proliferation, maturation and remodeling. Several studies have been carried out in order to relate systemic factors or acquired habits with the development, diagnosis, severity and cure of periradicular lesions. These conditions are referred to as disease modifiers and can clarify the onset of painful symptoms in asymptomatic cases, delayed healing of some lesions, and explain why some properly treated channels result in failure. Hereditary coagulation diseases cause changes in patients' hemostasis, generating a propensity for heavy bleeding and important changes in wound healing. This bibliographic review sought to identify the associations between the most common hereditary coagulation disorders (Hemophilia A and B and von Willebrand's disease) and the repair of endodontic lesions and concluded that such a clinical condition can affect immune responses, interfering with periradicular repair.

Enfermedad von Willebrand: consideraciones prácticas para el odontólogo. Revisión de literatura / von Willebrand disease: practical considerations for the dentist. Literature review

RESUMEN La enfermedad von Willebrand es el desorden hemorrágico hereditario más común, que se origina por la deficiencia del factor von Willebrand, la cual provoca una adhesión y agregación plaquetaria defectuosa. Se caracteriza por un tiempo de sangrado y tiempo parcial de tromboplastina prolongados, con bajos valores del factor VIII, y aumento de fragilidad capilar, pero con recuento normal de plaquetas. El tratamiento odontológico en un paciente con enfermedad von Willebrand, debe ser individualizado de acuerdo con la severidad de la condición del paciente, así como coordinado con el hematólogo, quien debe de determinar el tipo de enfermedad y la necesidad de la terapia de reemplazo del factor según diagnóstico específico previo al manejo de este. Mediante esta revisión bibliográfica se desea reforzar el conocimiento al odontólogo de este trastorno hemorrágico, ya que con ello se pueden evitar o minimizar posibles complicaciones de sangrado durante el tratamiento odontológico.

ABSTRACT von Willebrand disease is the most common inherited bleeding disorder, caused by von Willebrand factor deficiency, which causes defective platelet adhesion and aggregation. It is characterized by a prolonged bleeding time and partial thromboplastin time, with low levels of factor VIII, and increased capillary fragility, but with a normal platelet count. Dental treatment in a patient with von Willebrand disease must be individualized according to the severity of the patient's condition, as well as coordinated with the hematologist, who must determine the type of disease and the need for factor replacement therapy, prior to the patient management. Through this bibliographic review, it wants to reinforce the dentist's knowledge of this bleeding disorder, since this can prevent or minimize possible bleeding complications during dental treatment.

Trombosis de seno venoso asociada con infección por SARS-CoV-2 / Cerebral venous thrombosis associated with SARS-Cov-2 infection

RESUMEN INTRODUCCION: La trombosis del seno venoso se considera una de las causas más infrecuentes de enfermedad cerebrovascular (ECV), prevalente en la edad joven. Suele tener un inicio insidioso, lo cual dificulta su diagnóstico y el inicio oportuno del tratamiento, y se encuentra asociada con múltiples factores de riesgo, incluyendo estados de hipercoagulabilidad, como en aquellos pacientes que cursan con infección por SARS-CoV-2. REPORTE DE CASO: Se presentan dos casos clínicos de pacientes con alteraciones neurológicas, diplopia y estatus epiléptico, en quienes se documentó por medio de la sintomatologia y de estudios imagenológicos, trombosis venosas extensas de localización infrecuente, se descartaron las principales etiologías asociadas, y el único nexo asociado fue la infección por SARS-CoV-2. Ambos pacientes recibieron tratamiento con anticoagulación parenteral, al que respondieron de forma exitosa, por lo cual se logró el alta posteriormente con anticoagulación oral. DISCUSIÓN: Es imprescindible el conocimiento de esta enfermedad, asociada con una alta sospecha diagnóstica, dadas sus manifestaciones clínicas variadas y su asociación cada vez más frecuente con infección por covid-19.

ABSTRACT INTRODUCTION: Venous sinus thrombosis is considered one of the most infrequent causes of cerebrovascular disease (CVD), prevalent in young people. It usually has an insidious onset which difficult its diagnosis and timely initiation of treatment and is associated with multiple risk factors including hypercoagulable states, as in those patients with SARS-CoV-2 (severe acute respiratory syndrome coronavirus-2) infection. CASE REPORT: The following are 2 clinical cases of patients with neurological alterations, diplopia, and status epilepticus, in whom extensive venous thrombosis of infrequent location was documented through symptomatology and imaging studies, ruling out the main associated etiologies, with the only associated nexus: SARS-CoV-2 infection. Both patients received treatment with parenteral anticoagulation, responding successfully and were subsequently discharged with oral anticoagulation. DISCUSSION: It is essential to be aware of this disease associated with a high diagnostic suspicion given its varied clinical manifestations and its increasingly frequent association with COVID-19 infection.

Crisis celíaca y tetania aguda en pediatría. Reporte de un caso / Celiac crisis and acute tetany in pediatrics. Case report

RESUMEN La enfermedad celíaca es una enfermedad sistémica inmunomediada, con un gran espectro de presentaciones clínicas. El término crisis celíaca describe la forma aguda y potencialmente fatal. Clínicamente se caracteriza por diarrea severa, deshidratación y alteraciones metabólicas. Se reporta el caso de un paciente masculino de 7 años de edad que asiste a guardia con tetania, edema en miembros inferiores, esteatorrea y pérdida de peso de 8 meses de evolución, con hallazgos analíticos de hipocalcemia, hipomagnesemia, hipopotasemia y coagulopatía. El diagnóstico de crisis celíaca se realizó sobre la base de hallazgos serológicos y clínicos compatibles con enfermedad celíaca en el contexto de anomalías metabólicas graves y desnutrición aguda, confirmado posteriormente por anatomía patológica. La importancia de este reporte radica en repasar las características de esta grave entidad, que requiere un elevado índice de sospecha para su diagnóstico.

ABSTRACT Celiac disease is an immune-mediated systemic disease with a wide spectrum of clinical presentations. The term celiac crisis describes the acute and potentially fatal form. Clinically it is characterized by severe diarrhea, dehydration, and metabolic disturbances. The case of a 7-year-old male patient attending the ward with tetany, lower limb edema, steatorrhea and weight loss of 8 months of evolution is reported, with analytical findings of hypocalcemia, hypomagnesemia, hypokalemia and coagulopathy. The diagnosis of celiac crisis was made on the basis of serological and clinical findings compatible with celiac disease in the context of severe metabolic abnormalities and acute malnutrition, later confirmed by pathological anatomy. The importance of this report lies in reviewing the characteristics of this serious entity, which requires a high index of suspicion for its diagnosis.

Can Hemophilia Impact on the Oral Health Conditions of Children and Adolescents? A Systematic Review and Metanalysis

Abstract Objective: To analyze if the oral health conditions in children and adolescents are associated with hemophilia (PROSPERO-42020168192). Material and Methods: The search strategy was performed in PubMed, Scopus, Lilacs/BBO, Web of Science, Cochrane, and Grey literature databases. Two independent researchers assessed the risk of bias in these studies by the Newcastle-Ottawa Scale. For the meta-analysis, the clinical conditions data were extracted as numerical variables according to their indexes, such as dental caries experience (dmft/DMFT), gingival condition (Modified Gingival Index - IGM), and oral hygiene (Plaque Index - PI). The quality of the evidence of the meta-analysis was evaluated by the GRADE tool (GRADEproGDT). Results: From a total of 431 studies, 27 were included, and 10 were included in the meta-analysis. The studies presented a moderate risk of bias, ranging from 2 to 7 points. The dental caries experience in primary (-0.62; CI95%: -1.68-0.43) and permanent dentitions (-0.05; CI95%: -0.69-0.59), gingival condition (-0.12; CI95%: -0.27-0.03), and oral hygiene (0.36; CI95%: -0.06-0.77) did not differ between the groups. Conclusion: Based on studies with very weak evidence, there were no differences in the oral health conditions of children and adolescents with and without hemophilia (AU).

Analysis on risk factors for early trauma-induced coagulopathy in the elderly patients with severe trauma / 中华创伤杂志

Objective:To explore the risk factors for early trauma-induced coagulopathy (TIC) following severe trauma in the elderly patients.Methods:A case-control study was used to analyze the clinical data of 317 elderly patients with severe trauma admitted to Second Affiliated Hospital of Zhejiang University School of Medicine between February 2015 and November 2020. There were 212 males and 105 females, aged 65-96 years [(72.6±6.8)years]. The patients were divided into TIC group ( n=32) and non-TIC group ( n=285) using the international normalised ratio (INR)>1.5 as the reference standard. Sex, age, trauma sites, injury severity score (ISS), Glasgow coma scale (GCS), first body temperature on admission, shock index(SI), first laboratory results of arterial blood gas, routine blood and coagulation, blood transfusion, usage of blood product, hospitalization days and clinical outcomes were compared between the two groups. Univariate and multivariate Logistic regression analysis were used to identify the risk factors for early TIC in patients with severe trauma. Results:Differences in sex, age, injuries to the face, chest and abdomen, GCS, first body temperature and hospitalization days were not statistically significant between the two groups (all P>0.05). The two groups showed statistical differences in the ratio of injuries to head, neck and extremities, ISS, SI, pH value, base excess (BE), lactate, hemoglobin (Hb), platelet (PLT) count (first detection, lowest level), activated partial thromboplastin time (APTT), thrombin time (TT), plasma fibrinogen (FIB), blood transfusion and usage of blood product and clinical outcomes (all P<0.05). According to the univariate analysis, injuries to the head, neck and extremities, ISS, first body temperature, SI, pH value, BE, lactate, Hb, PLT, APTT, TT and FIB were correlated with the occurrence of early TIC (all P<0.05). Multiple Logistic regressions analysis showed that SI ( OR=1.54, 95% CI 1.10-2.17, P<0.05), PLT ( OR=0.67, 95% CI 0.49-0.91, P<0.05) and FIB ( OR=0.56, 95% CI 0.40-0.78, P<0.01) were significantly correlated with the occurrence of early TIC. Conclusion:For elderly patients with severe trauma, higher SI, lower PLT count and lower concentration of FIB are independent risk factors for the incidence of early TIC.

Detección del polimorfismo p.K952L en pacientes cubanos con la enfermedad de Wilson

RESUMEN Fundamento La enfermedad de Wilson es una entidad rara con patrón de herencia autosómico recesivo, a causa de las mutaciones en el gen ATP7B, lo cual provoca la acumulación de cobre en tejidos y órganos. En la literatura se informan más de 800 polimorfismos. Objetivo identificar el polimorfismo p.K952L en los pacientes cubanos con diagnóstico clínico presuntivo de enfermedad de Wilson. Métodos se realizó un estudio descriptivo, en el Centro Nacional de Genética Médica y el Instituto Nacional de Gastroenterología, que incluyó 35 pacientes con diagnóstico clínico de la enfermedad de Wilson. La extracción del ADN fue por la técnica de precipitación salina; y la amplificación del fragmento de interés, mediante la técnica de Reacción en Cadena de la Polimerasa. Además, se empleó la técnica de Polimorfismo Conformacional de Simple Cadena para la determinación de los cambios conformacionales y la presencia del polimorfismo p.K952L. Resultados en el exón 12 se identificaron los cambios conformacionales denominados b y c, que correspondieron al polimorfismo p.K952L en estado heterocigótico y homocigótico, respectivamente. La frecuencia alélica del polimorfismo p.K952L fue de 38,6 %. Las manifestaciones más frecuentes en los pacientes que presentaron este polimorfismo fueron las hepáticas. Conclusión Se identificó el polimorfismo p.K952L en 21 pacientes cubanos con diagnóstico clínico de enfermedad de Wilson, lo cual posibilita ampliar los estudios moleculares por métodos indirectos.

ABSTRACT Background Wilson's disease is a rare entity with an autosomal recessive inheritance pattern, due to mutations in the ATP7B gene, which causes the accumulation of copper in tissues and organs. More than 800 polymorphisms are reported in the literature. Objective to identify the p.K952L polymorphism in Cuban patients with a presumptive clinical diagnosis of Wilson's disease. Methods a descriptive study was carried out at the Medical Genetics National Center and the Gastroenterology National Institute, which included 35 patients with a Wilson's disease clinical diagnosis. DNA extraction was by saline precipitation technique; and the amplification of the fragment of interest, by means of the Polymerase Chain Reaction technique. In addition, the Simple Chain Conformational Polymorphism technique was used to determine the conformational changes and the presence of the p.K952L polymorphism. Results in exon 12 the conformational changes called b and c were identified, which corresponded to the polymorphism p.K952L in the heterozygous and homozygous state, respectively. The allelic frequency of the p.K952L polymorphism was 38.6%. The most frequent manifestations in patients with this polymorphism were liver. Conclusion The p.K952L polymorphism was identified in 21 Cuban patients with a clinical diagnosis of Wilson's disease, which makes it possible to extend molecular studies by indirect methods.

Computed tomography features of cerebrovascular complications in intensive care unit patients with severe COVID-19 / Alterações na tomografia computadorizada das complicações cerebrovasculares em pacientes com COVID-19 grave na unidade de terapia intensiva

Abstract Objective: To report the computed tomography (CT) features of acute cerebrovascular complications in severely ill patients with confirmed coronavirus disease 2019 (COVID-19) in the intensive care unit. Materials and Methods: We conducted a retrospective analysis of 29 intensive care unit patients with confirmed COVID-19 who underwent CT of the brain. We describe the CT features of the cerebrovascular complications of COVID-19, as well the demographic characteristics and clinical features, together with the results of laboratory tests, such as complete blood cell count, coagulation testing, renal function testing, and C-reactive protein assay. Results: Two patients were excluded because of brain death. Among the remaining 27 patients, CT revealed acute cerebrovascular complications in six (three men and three women; 49-81 years of age), whereas no such complications were seen in 21 (15 men and six women; 36-82 years of age). Conclusion: Radiologists should be aware of the risks of cerebrovascular complications of COVID-19 and the potential underlying etiologies. COVID-19-associated coagulopathy is likely multifactorial and may increase the risk of ischemic and hemorrhagic infarction.

Resumo Objetivo: Relatar as características da tomografia computadorizada (TC) das complicações cerebrovasculares agudas em pacientes com doença do coronavírus 2019 (COVID-19) grave, internados em unidade de terapia intensiva. Materiais e Métodos: Foi realizada análise retrospectiva de 29 pacientes com COVID-19 confirmada, internados em unidade de terapia intensiva, que realizaram TC de crânio. Descrevemos as alterações tomográficas das complicações cerebrovasculares, bem como as características demográficas, clínicas e exames laboratoriais, tais como hemograma completo, teste de coagulação, função renal e proteína C reativa desses pacientes. Resultados: Seis pacientes (três homens e três mulheres; faixa etária de 49-81 anos) apresentaram alterações cerebrovasculares reveladas por TC e 21 pacientes (15 homens e 6 mulheres; faixa etária de 36-82 anos) não apresentaram complicações cerebrovasculares agudas. Dois pacientes foram excluídos por morte encefálica. Conclusão: Os radiologistas devem estar cientes dos riscos de complicações cerebrovasculares da COVID-19 e das possíveis etiologias subjacentes. A coagulopatia relacionada à COVID-19 é provavelmente multifatorial e pode aumentar os riscos de infarto isquêmico e hemorrágico.

Características epidemiológicas y clínicas de los menores de 18 años con hemofilia asistidos en el Centro Hospitalario Pereira Rossell. 2016 - 2018 / Epidemiologic and clinical characteristics of hemophilic patients of under 18 years of age assisted at the Pereira Rossell Hospital Center. 2016-2018 / Características epidemiológicas e clínicas de menores de 18 anos com hemofilia assistidos no Centro Hospitalar Pereira Rossell. 2016 - 2018

Resumen: Introducción: la hemofilia es una enfermedad hereditaria, ligada al cromosoma X, debida al déficit de factor VIII (tipo A) o IX (tipo B). La prevalencia estimada al nacimiento es de 24,6 casos cada 100.000 varones para hemofilia A y 5 casos cada 100.000 para hemofilia B. El Departamento de Medicina Transfusional (DMT) del Centro Hospitalario Pereira Rossell (CHPR) es el Centro de Referencia Nacional (CDRN) para los menores de 18 años. El abordaje integral, inter-disciplinario del paciente con hemofilia en un centro especializado disminuye la morbi-mortalidad y contribuye a mejorar la calidad de vida. Objetivo: describir las características epidemiológicas y clínicas de los menores de 18 años con hemofilia asistidos en el DMT-CHPR entre el 1 enero de 2016 y el 31 de diciembre de 2018. Metodología: estudio descriptivo, retrospectivo, de todos los menores de 18 años con hemofilia. Se describió: edad y circunstancias del diagnóstico, tipo y severidad de la hemofilia, controles en salud, estudios complementarios, complicaciones, frecuencia y motivos de hospitalización, tratamiento. El protocolo de estudio fue aprobado por el Comité de Ética Institucional. Resultados: se asistieron 67 pacientes, 57 con hemofilia A y 10 con hemofilia B. La mediana de edad fue 8 años. Presentaban hemofilia severa 61 pacientes, moderada 2 y leve 4. Presentaban antecedentes familiares de coagulopatía 41. La mediana de edad al diagnóstico fue 2 meses. Se diagnosticaron en el período neonatal 24 de los pacientes con hemofilia A y 5 con hemofilia B. Desarrollaron inhibidores 7 pacientes, todos con hemofilia severa. Conclusiones: en esta serie, predominaron los pacientes con hemofilia A, severa, antecedentes familiares conocidos de coagulopatía, en tratamiento profiláctico con factores de la coagulación. Esta comunicación aporta información valiosa sobre las características de estos pacientes, lo que contribuye a la gestión clínica y a planificar estrategias de mejora de la calidad asistencial.

Summary: Introduction: hemophilia is a hereditary disease, linked to chromosome X and caused by the deficit of factor VIII (type A) and IX (type B). Estimated prevalence at birth is 24.6 cases every 100,000 boys for hemophilia A and 5 cases every 100,000 cases for hemphilia B. The Transfusion Medical Department (TMD) of the Pereira Rossell Children's Hospital Center (CHPR, acronym in Spanish) is the national reference center (NRC) for patients under 18 years of age. A comprehensive, inter-disciplinary approach to hemophilic patients at a specialized center decreases morbidity and mortality and contributes to improving quality of life. Objective: to describe the epidemiologic, clinical and progression characteristics of hemophilic patients of under 18 years of age assisted at the TMD-CHPR between January 1st 2016 and December 31st, 2018. Methodology: descriptive, retrospective study of all hemophilic patients of under 18 years of age. Variables described: age, circumstances of diagnosis, type and severity of hemophilia, health check-ups, tests, complications, frequency and reasons for hospital admittance, treatment. The study protocol was approved by the Institutional Ethics Committee. Results: 67 patients were assisted, 57 with hemophilia A and 10 with hemophilia B. Median age was 8 years. Severe hemophilia was present in 61 patients, moderate in 2 and mild in 4. 41 had a family history of coagulopathy. Median age at diagnosis was 2 months. 24 patients with hemophilia A and 5 patients with hemophilia B were diagnosed during the neonatal period. 7 patients developed inhibitors, all of them with severe hemophilia. Conclusions: in this study there is a predominance of patients with severe hemophilia A, known family history of coagulopathy, under prophylactic treatment with coagulation factors. This study provides valuable information about the characteristics of these patients, which contributes to improved clinical management and planning strategies to improve their quality of care.

Resumo: Introdução: o Departamento de Medicina Transfusional (DMT) do Centro Hospitalar Pereira Rossell (CHPR) é o Centro Nacional de Referência (CNR) para menores de 18 anos de idade. A abordagem abrangente e interdisciplinar do paciente com hemofilia em um centro especializado reduz a morbimortalidade e contribui para a melhoria da qualidade de vida. Objetivo: descrever as características epidemiológicas, clínicas e evolutivas em crianças menores de 18 anos com hemofilia atendidas no DMT-CHPR entre 1 de janeiro de 2016 e 31 de dezembro de 2018. Metodologia: estudo descritivo, retrospectivo, de todos os menores de 18 anos com hemofilia. Descrevemos: idade e circunstâncias do diagnóstico, tipo e gravidade da hemofilia, controles de saúde, estudos complementares, complicações, frequência e motivos de hospitalização, tratamento. O protocolo do estudo foi aprovado pelo Comitê de Ética Institucional. Resultados: 67 pacientes foram atendidos, 57 com hemofilia A e 10 com hemofilia B. A media de idade foi de 8 anos. Houve 61 pacientes com hemofilia grave, moderada 2 e leve 4. 41 tiveram história familiar de coagulopatia. A media de idade no diagnóstico foi de 2 meses. 24 dos pacientes com hemofilia A e 5 com hemofilia B foram diagnosticados no período neonatal e 7 desenvolveram inibidores, todos com hemofilia grave. Conclusões: neste estudo, predominaram pacientes com hemofilia A grave, história familiar conhecida de coagulopatia, em tratamento profilático com fatores de coagulação. O estudo fornece informações valiosas sobre as características desses pacientes, o que contribui para o manejo clínico e estratégias de planejamento para melhorar a qualidade do atendimento deles.

Damage control in the intensive care unit: what should the intensive care physician know and do? / Control de daños en la unidad de cuidados intensivos: ¿qué debe conocer y hacer el médico intensivista?

Abstract Damage control surgery has transformed the management of severely injured trauma patients. It was initially described as a three-step process that included bleeding control, abdominal cavity contamination, and resuscitation in the intensive care unit (ICU) before definitive repair of the injuries. When the patient is admitted into the ICU, the physician should identify all the physiological alterations to establish resuscitation management goals. These strategies allow an early correction of trauma-induced coagulopathy and hypoperfusion increasing the likelihood of survival. The objective of this article is to describe the physiological alterations in a severely injured trauma patient who undergo damage control surgery and to establish an adequate management approach. The physician should always be aware and correct the hypothermia, acidosis, coagulopathy and hypocalcemia presented in the severely injured trauma patients.

Resumen Cuando el paciente de trauma ingresa a la unidad de cuidado intensivo después de una cirugía de control de daños, generalmente aún presenta algún grado de hemorragia, hipoperfusión y lesiones que requieren reparo definitivo. La evaluación por parte del intensivista del grado de severidad de tales alteraciones, y las repercusiones sistémicas, permitirán establecer las necesidades de reanimación, prever potenciales complicaciones y hacer los ajustes al tratamiento con el fin de minimizar la morbilidad y mortalidad asociada al trauma. El objetivo de este artículo es describir las alteraciones que presentan los pacientes con trauma severo manejados con cirugía de control de daños y las consideraciones a tener en cuenta para su abordaje terapéutico. Se presentan los aspectos más relevantes del manejo del paciente con trauma severo y cirugía de control de daños a su ingreso a la UCI. El intensivista debe conocer las alteraciones fisiológicas que puede presentar el paciente de trauma sometido a cirugía de control de daños, especialmente las causadas por la hemorragia masiva. La evaluación de estas alteraciones, de la severidad del sangrado y del estado de choque, y estimar en qué punto de la reanimación se encuentra el paciente a su ingreso a la unidad de cuidados intensivos son fundamentales para definir la estrategia de monitoria y soporte a seguir. La corrección de la hipotermia, la acidosis y la coagulopatía es la prioridad en el tratamiento del paciente con trauma severo.

Pulmonary thromboembolism in conjunction with intracavitary thrombus caused by severe acute respiratory syndrome coronavirus-2 infection in a patient living with human immunodeficiency virus

Abstract Approximately one-third of patients with coronavirus disease 2019 (COVID-19) present with coagulation disorders and hematological changes. However, the clinical manifestations of COVID-19 and prognoses of people living with human immunodeficiency virus (HIV) remain controversial. This study reports the case of a 27-year-old HIV-infected man who regularly used antiretroviral medications, had no other comorbidities and was admitted for acute respiratory distress syndrome caused by COVID-19. Complementary examinations during hospitalization revealed a diagnosis of pulmonary thromboembolism in association with an intracavitary thrombus.

Dental surgical care in blood dyscrasias patients: an epidemiological study / Cuidados em cirurgias dentárias de pacientes com discrasias sanguíneas: um estudo epidemiológico

ABSTRACT Introduction: In Brazil, about 18.500 people have some kind of hereditary coagulopathy. In combination, the increase in life expectancy has led to an increasingly frequent presence of older people in medical offices. These patients make use of many drugs, including those that produce anticoagulant effects. The dentist should be aware about the impact of bleeding disorders during the approach of their patients, especially if invasive procedures are considered. Objective: To identify the most prevalent blood dyscrasias presented by patients covered by the Program of dental surgical care to patients with blood dyscrasias; to establish the presence of associated diseases and investigate the correlation between pre- and postoperative drug protocols and the occurrence of postoperative complications. Methods: This was an epidemiological retrospective cross-sectional study of medical reports used by the program. After the survey of defined variables, data were tabulated in Microsoft Excel ® software and evaluated using the chi-square and Fisher's exact tests. Results: One patient was identified as having Human Immunodeficiency Virus and 18 with Hepatitis C virus. There was a statistically significant difference between patients with haemophilia B and Hepatitis C. The administration of tranexamic acid as pre- and post-surgical protocol was the therapy of choice. Of the 11 patients with vWD, 7 of them received tranexamic acid as preoperative medication. Conclusion: The appropriate retention system for the patient depends on several factors, including indication, advantages and disadvantages, retention provided, aesthetics and clinical performance.

RESUMO Introdução: No Brasil, cerca de 18.500 pessoas apresentam algum tipo de coagulopatia hereditária. O aumento da expectativa de vida tem levado a uma presença cada vez mais frequente de idosos nos consultórios médicos. Esses pacientes fazem uso de diversos medicamentos, inclusive aqueles que produzem efeitos anticoagulantes. O dentista deve estar ciente do impacto dos distúrbios hemorrágicos durante a abordagem de seus pacientes, especialmente se procedimentos invasivos forem considerados. Objetivos: Identificar as discrasias sanguíneas mais prevalentes apresentadas pelos pacientes atendidos pelo Programa de assistência cirúrgica odontológica a pacientes com discrasias sanguíneas; estabelecer a presença de doenças associadas e investigar a correlação entre os protocolos medicamentosos pré e pós-operatórios e a ocorrência de complicações pós-operatórias. Métodos: Trata-se de um estudo epidemiológico retrospectivo transversal dos laudos médicos utilizados pelo programa. Após o levantamento das variáveis definidas, os dados foram tabulados no software Microsoft Excel ® e avaliados pelos testes qui-quadrado e exato de Fisher. Resultados: Um paciente foi identificado como portador do Vírus da Imunodeficiência Humana e 18 com Vírus da Hepatite C. Houve uma diferença estatisticamente significativa entre os pacientes com hemofilia B e hepatite C. A administração de ácido tranexâmico como protocolo pré e pós-cirúrgico foi a terapia de escolha. Dos 11 pacientes com vWD, 7 deles receberam ácido tranexâmico como medicação pré-operatória. Conclusão: O ácido tranexâmico foi o fármaco mais utilizado como medicamento para cirurgia oral sem. Não há associações entre os protocolos cirúrgicos e complicações pós-operatórias. Foi encontrada significância estatística entre Hemofilia B e hepatite C. Estudos futuros devem enfocar esta relação entre hemofilia e hepatite C.

Predictive value of coagulation indexes in maintenance peritoneal dialysis patients on the risk of all-cause death / 国际外科学杂志

Objective:To construct nomogram model based on coagulation indicators to predict the risk of all-cause death in maintenance peritoneal dialysis patients.Methods:One hundred and sixty-five patients who underwent maintenance peritoneal dialysis treatment at the Department of Nephrology, Urumqi Friendred Hospital from January 2010 to December 2018 were selected retrospectively as the research objects and were followed up once a month after the start of peritoneal dialysis treatment: inpatients were in the patient′s ward; in-home treatment were followed up by telephone. The follow-up time of all the study subjects was until death or 24 months. After the end of the follow-up period, the study subjects were divided into survival group and death group according to whether they died. General information, blood coagulation indicators, renal function indicators, blood lipids, blood potassium, blood calcium, blood phosphorus and blood glucose of the research subjects were recorded and compared the differences between the two groups of patients. The measurement data conforming to the normal distribution were expressed as mean±standarad deviation ( Mean± SD), and the student t-test was used for comparison between groups; the Chi-square test was used for comparison of enumeration data between groups. Two categories Cox regression analysis was used to determine independent risk factors for death in peritoneal dialysis patients, Nomogram prediction model was constructed, and receiver operating characteristic (ROC) was drawn to evaluate the predictive ability of the nomogram model. Results:Combined diabetes, high platelet count, short prothrombin time, short activated partial thrombin time, low international standardization ratio, high fibrinogen level, short thrombin time, high prothrombin activity, high D-dimer level and advanced age were independent risk factors for death in peritoneal dialysis patients. The Nomogram model constructed based on these risk factors had a good fitting effect, and the area under the ROC curve was 0.809 (0.792-0.825), indicating that it had strong predictive ability.Conclusions:Abnormal coagulation indicators were closely related to the risk of death in peritoneal dialysis patients. Diabetes and advanced age also had a certain predictive ability for all-cause death in peritoneal dialysis patients. Nomogram model constructed in this study could be used as a quantitative tool to predict the risk of all-cause death in peritoneal dialysis patients, help to develop individualized treatment plans for peritoneal dialysis patients and improve the prognosis of patients.

Manejo quirúrgico del paciente con hemofilia sometido a cirugía bucal: Reporte de un caso clínico / Surgical management of the patient with hemophilia undergoing oral surgery: A case report

Resumen Introducción: La hemofilia es una deficiencia congénita de un factor de la coagulación, la cual consta en un trastorno recesivo asociado al cromosoma X, generando disminución o ausencia de actividad funcional del factor. Objetivo: Presentar una revisión narrativa de la literatura sobre pacientes hemofílicos, junto con un caso de manejo de un paciente con la condición. Metodología: Paciente de sexo femenino, 18 años, acude al postgrado de Cirugía y Traumatología bucomaxilofacial de la Universidad Andrés Bello de Santiago de Chile, derivada para realizar exodoncia de terceros molares debido al término de su mecánica ortodóntica. Al realizar la anamnesis próxima, la paciente relata padecer hemofilia A leve, y hace 6 meses presentó un 38% de factor VIII. Previo al tratamiento quirúrgico se solicitó un hemograma completo con examen de coagulación para medir el TTPA. Además, se realizó una interconsulta con el hematólogo tratante para evaluación de su patología y recomendaciones para efectuar la misma con la menor cantidad de riesgos intraquirúrgicos y postquirúrgicos, el cual sugirió la administración de factor VIII previo, y posterior al acto quirúrgico. Así mismo, se aplicaron medidas de hemostasia locales para mejor control y un correcto manejo analgésico postquirúrgico. Conclusión: La hemofilia, es un trastorno que requiere un minucioso manejo tanto pre, intra y postoperatorio de parte del odontólogo, donde los exámenes complementarios, comunicación con el hematólogo, procedimiento atraumático y un correcto manejo de la hemostasia, son fundamentales para el éxito del tratamiento.

Abstract Introduction: Hemophilia is a congenital deficiency of a coagulation factor, associated to a recessive pattern located in the X chromosome, which induces a lower or even absent functional activity of that factor. Objective: To provide a narrative review of the literature about haemophiliac patients, as well as a case report of a patient. Methods: Female patient, 18 years old, attended in the postgraduate of Maxillofacial Surgery of the Andrés Bello University to Santiago, Chile, derived to perform extractions of wisdom teeth due to the end of its orthodontic mechanics. At the anamnesis, the patient reports to suffer from mild hemophilia A, and 6 months ago she had 38% VIII factor. Prior to surgical treatment, a complete blood count with a coagulation test was requested to measure TTPA. In addition, an interconsultation was made with the treating hematologist to perform a correct management to assess of her pathology and recommendations to carry out it with the least amount of intrasurgical and post-surgical risks. Suggested the administration of factor of freeze-dried VIII factor before and after surgery. Local hemostasis measures were also applied for better control and proper post-surgical pain management. Conclusion: Hemophilia, requires the dentist to perform a thorough management pre, intra and postoperatory, in which complementary tests, communication with the hematologist, atraumatic procedure and a precise management of hemostasis, are key for the treatment's success.

Respuesta a la prueba de desmopresina: estudio de cohorte en un hospital de Bogotá / Response to the desmopressin test: cohort study in a Bogota hospital

Introducción: La desmopresina es un análogo sintético de la vasopresina que aumenta los niveles plasmáticos del factor VIII y del factor de von Willebrand. Algunos autores señalan el tiempo de mantenimiento del efecto hemostático entre 6 y 8 h, por lo que es necesario estudiar su efecto en el tiempo. Objetivo: Determinar la variación de las variables de laboratorio de pacientes con enfermedad de von Willebrand y hemofilia tipo A posterior a la administración de desmopresina. Métodos: Estudio de cohorte retrospectivo en un hospital universitario en Bogotá. Se realizó un muestreo no aleatorio, se incluyeron 24 pacientes mayores de 18 años con diagnóstico de enfermedad de von Willebrand (67 por ciento) y hemofilia tipo A no grave (33 por ciento), a quienes se les realizó la prueba de desmopresina. Se conformaron dos grupos de pacientes, independientemente del diagnóstico: 15 pacientes con valores basales de factor VIII ; 50 UI y 13 pacientes con valores basales de antígeno von Willebrand lt; 50 UI. Se efectúo análisis estadístico descriptivo y correlacional en Stata 13. Resultados: El 87 por ciento de los pacientes del grupo I alcanzó el valor terapéutico a las 2 h de administrada la desmopresina (p= 0,000), el cual se mantuvo hasta 6 h en el 77 por ciento (p= 0,000). En el grupo II el 92 por ciento logró el valor terapéutico en 2 h (p= 0,003), que continuó hasta las 6 h en el 83 por ciento (p= 0,000). Conclusiones: La respuesta a la administración de desmopresina fue máxima a las 2 h posteriores, cuando comenzó a disminuir progresivamente, pero mantuvo el efecto terapéutico. Aunque no se encontraron efectos adversos, existe variabilidad de respuesta entre pacientes(AU)

Introduction: Desmopressin is a synthetic analog for vasopressin that increases the plasma levels of factor VIII and of von Willebrand factor. Some authors indicate maintenance time of hemostatic effect between 6 and 8 hours, so it is necessary to study its effect over time. Objective: To determine the variation of laboratory variables in patients with von Willebrand disease and type A hemophilia after desmopressin administration. Methods: Retrospective cohort study carried out in a university hospital in Bogotá. Nonrandomized sampling was used, including 24 patients older than 18 years and with a diagnosis of von Willebrand disease (67 percent) and non-severe type A hemophilia (33 percent), who underwent the desmopressin test. Two groups of patients were created, regardless of diagnosis: 15 patients with baseline values of factor-VIII 8203; #8203;lower than 50 IU and 13 patients with baseline values of von Willebrand antigen8203;8203;lower than 50 IU. Descriptive and correlational statistical analysis was performed in Stata 13. Results: 87 percent of patients in group I reached the therapeutic value two hours after desmopressin administration (p=0.000), which was maintained for up to six hours in 77 percent (p=0.000). In group II, 92 percent achieved the therapeutic value in two hours (p=0.003), which continued until six hours in 83 percent (p=0.000). Conclusions: Response to desmopressin administration was maximum at two hours, when it began to decrease progressively, but maintained the therapeutic effect. Although no adverse effects were found, there is variability of response among patients(AU)

Trastornos de la coagulación en pacientes cubanos con diagnóstico clínico de Enfermedad de Wilson / Coagulation disorders in Cuban patients with a clinical diagnosis of Wilson's disease

RESUMEN Fundamento: La enfermedad de Wilson constituye un problema de salud mundial. Las manifestaciones clínicas son muy variables, lo cual contribuye a las dificultades en el diagnóstico. La presencia de trastornos de los factores de la coagulación, asociados a ella, no es común, pero se han informado casos en la literatura. Objetivo: identificar trastornos de la coagulación y su causa molecular en pacientes cubanos con diagnóstico clínico de enfermedad de Wilson. Métodos: estudio descriptivo de 50 pacientes cubanos con diagnóstico clínico de enfermedad de Wilson, realizado en el Centro Nacional de Genética Médica, La Habana. Se extrajo el ADN de la sangre de los pacientes por precipitación salina. Se realizó la búsqueda de mutaciones en los exones: 2, 3, 6, 8, 10 y 14 del gen atp7b mediante las técnicas SSCP, digestión enzimática y secuenciación. Resultados: solo en un paciente fue identificado el trastorno de coagulación (mutación p.L708P), lo que representó el 2 % del total. El análisis de dicha mutación mostró una puntuación de 0,74, lo que significó que puede provocar daño a la proteína ATP7B. Conclusión: La frecuencia de aparición de trastornos de los factores de la coagulación en pacientes cubanos con diagnóstico clínico de enfermedad de Wilson resultó baja respecto a la informada por otros estudios. Sin embargo, hay que considerarla como una probabilidad real, y realizar las pruebas necesarias para su confirmación.

Foundation: Wilson's disease is a global health problem. Clinical manifestations are quite variable, which makes the diagnosis difficult. The presence of factor coagulation disorders associated with it is not common, but cases have been reported in literature. Objective: to identify coagulation disorders and their molecular cause in Cuban patients with a clinical diagnosis of Wilson's disease. Methods: descriptive study of 50 Cuban patients with clinical diagnosis of Wilson's disease, conducted at the National Center for Medical Genetics, Havana. DNA was extracted from patients' blood by saline precipitation. Exon mutations: 2, 3, 6, 8, 10 and 14 of the atp7b gene were searched using SSCP techniques, enzymatic digestion and sequencing. Results: only one patient was identified with coagulation disorder (mutation p.L708P), which represented 2% of the total. The analysis of this mutation showed a score of 0.74, which meant that it could cause damage to the ATP7B protein. Conclusion: The frequency of occurrence of factor coagulation disorders in Cuban patients with a clinical diagnosis of Wilson's disease was low compared to that reported by other studies. However, it must be considered as a real probability, and perform the necessary tests for confirmation.