Severe Aplastic Anemia as First Manifestation of Classical Hodgkin Lymphoma.

Autoimmune cytopenia, a known paraneoplastic complication of lymphoid neoplasms, may occur before, concurrently, at relapse, or even years after completion of lymphoma treatment. In the case of Hodgkin lymphoma (HL), it is thought that immune dysregulation, typical of this neoplasm, may be involved in the genesis of these manifestations. We report a 57-year-old male presenting with stage IIIA, International Prognostic Score (IPS) 4, nodular sclerosis HL, and severe AA (SAA) confirmed on the histologic exam of the bone marrow that showed severe marrow hypoplasia due to a decrease in the elements of the three cell linages with left shift of the myeloid maturation. Immunosuppression with steroids and cyclosporine A was started. Eltrombopag and G-CSF were also added. In spite of prompt initiation of immunosuppressive therapy, the patient presented an unfavorable outcome with progressive pancytopenia and severe acute cerebral hemorrhagic event. The patient died 59 days after admission. Although autoimmune disorders are described in HL, its concomitant diagnosis is extremely rare. Our case shows a rare instance of SAA as the first manifestation of HL.

R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Patient-specific cardiomyocytes obtained from induced pluripotent stem cells (CM-iPSC) offer unprecedented mechanistic insights in the study of inherited cardiac diseases. The objective of this work was to study a type 2 long QT syndrome (LQTS2)-associated mutation (c.1600C > T in KCNH2, p.R534C in hERG) in CM-iPSC. Peripheral blood mononuclear cells were isolated from two patients with the R534C mutation and iPSCs were generated. In addition, the same mutation was inserted in a control iPSC line by genome editing using CRISPR/Cas9. Cells expressed pluripotency markers and showed spontaneous differentiation into the three embryonic germ layers. Electrophysiology demonstrated that action potential duration (APD) of LQTS2 CM-iPSC was significantly longer than that of the control line, as well as the triangulation of the action potentials (AP), implying a longer duration of phase 3. Treatment with the IKr inhibitor E4031 only caused APD prolongation in the control line. Patch clamp showed a reduction of IKr on LQTS2 CM-iPSC compared to control, but channel activation was not significantly affected. Immunofluorescence for hERG demonstrated perinuclear staining in LQTS2 CM-iPSC. In conclusion, CM-iPSC recapitulated the LQTS2 phenotype and our findings suggest that the R534C mutation in KCNH2 leads to a channel trafficking defect to the plasma membrane.

Isolated intestinal transit bipartition: a new strategy for staged surgery in superobesity. / Bipartição de trânsito intestinal isolada: uma nova estratégia para cirurgia em estágios em superobesos.

OBJECTIVE: biliopancreatic diversion with duodenal switch is a complex, malabsorptive procedure, associated with improved weight loss and metabolic control. Staged surgery with sleeve gastrectomy as the first stage is an option for reducing complications in superobese patients. However, some problems persist: large livers can hamper the surgical approach and complications such as leaks can be severe. Intestinal transit bipartition is a modified and simplified model of biliopancreatic diversion that complements sleeve gastrectomy. It is similar to the duodenal switch, but with less complexity and fewer nutritional consequences. This study assessed the feasibility and safety of isolated transit bipartition as the initial procedure in a two-step surgery to treat superobesity. METHODS: this prospective study included 41 superobese patients, with mean BMI 54.5±3.5kg/m2. We performed a laparoscopic isolated transit bipartition as the first procedure in a new staged approach. We analyzed weight loss and complications during one year of follow-up. RESULTS: we completed all the procedures by laparoscopy. After six months, the mean percent excess weight loss was 28%, remaining stable until the end of the study. There were no intraoperative difficulties. Half of the patients experienced early diarrhea, and three had marginal ulcers. There were no major surgical complications or deaths. CONCLUSION: isolated laparoscopic transit bipartition is a new option for a staged approach in superobesity, which can provide a safer second procedure after effective weight loss over six months. It may be useful particularly in the management of patients with severe obesity.

OBJETIVO: o duodenal switch é um procedimento disabsortivo complexo, associado aos melhores resultados de perda de peso e controle metabólico. A cirurgia em etapas, com gastrectomia vertical como primeiro passo, é uma opção para reduzir complicações em pacientes superobesos. No entanto, alguns problemas persistem, como fígados grandes, que dificultam a abordagem cirúrgica, e complicações, como fístulas graves. A bipartição do trânsito intestinal é um modelo modificado e simplificado de desvio biliopancreático que complementa a gastrectomia vertical. É semelhante ao duodenal switch com menores complexidade e consequências nutricionais. Este estudo avaliou a viabilidade e a segurança da bipartição de trânsito isolada como o procedimento inicial para tratar a superobesidade. MÉTODOS: foram incluídos 41 pacientes superobesos, com IMC médio de 54,5±3,5kg/m2. Uma bipartição de trânsito isolada laparoscópica foi realizada como o primeiro procedimento em uma nova abordagem em duas etapas. Perda de peso e complicações foram analisadas durante um ano de acompanhamento. RESULTADOS: todos os procedimentos foram completados por laparoscopia. Após seis meses, a perda média de excesso de peso percentual foi de 28%, permanecendo estável até o final do estudo. Não houve dificuldades intraoperatórias. Metade dos pacientes apresentou diarreia precoce e três tiveram úlceras marginais. Não houve complicações cirúrgicas maiores ou mortes. CONCLUSÃO: a bipartição de trânsito isolada laparoscópica é uma nova opção para uma abordagem em estágios na superobesidade, que pode permitir um segundo procedimento mais seguro após a perda de peso ao longo de seis meses. Pode ser útil, particularmente, para pacientes com obesidade grave.

Recommendations from a Portuguese Expert Group for Discontinuation of Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia Patients in Clinical Practice.

Until recently, the main goal of chronic myeloid leukemia therapy was disease control with the best overall survival, which required lifelong treatment. However, currently, the treatment-free remission concept is becoming an important goal in clinical practice, and several tyrosine kinase inhibitors discontinuation studies have shown that round 50% of patients with a durable deep molecular response beyond major molecular response successfully interrupt tyrosine kinase inhibitors for at least three years without loss of molecular response. However, and regardless of the existing evidence, the exact conditions for attempting treatment-free remission remain poorly defined. Different authors tried to guide the clinical decision regarding this topic but there are some points that differ, namely with respect to the recommended duration of tyrosine kinase inhibitors therapy and the appropriate molecular response prior to treatment-free remission. The goal of this article is to propose an algorithm to guide clinical practice in Portugal concerning chronic phase-chronic myeloid leukemia patients who wish to attempt treatment-free remission, since there are no national guidelines.

Até recentemente, o objectivo principal do tratamento da leucemia mielóide crónica era o controlo da doença com o maior tempo possível de sobrevivência, o que requeria tratamento durante toda a vida. No entanto, e actualmente, o conceito de remissão livre de tratamento está a tornar-se um objectivo importante na prática clínica, e vários estudos de descontinuação de inibidores de tirosina cinase mostraram que cerca de 50% dos doentes com uma resposta molecular profunda duradoura, para além da resposta molecular major, interrompem tratamento com inibidores de tirosina cinase com sucesso durante pelo menos três anos sem perda da resposta molecular. No entanto, e apesar da evidência existente, as condições concretas e exactas para tentar remissão livre de tratamento são ainda pouco conhecidas. Diferentes autores tentaram guiar a decisão clínica sobre este tópico mas alguns pontos permanecem não consensuais, nomeadamente no que respeita à duração recomendada de tratamento com inibidores de tirosina cinase e à resposta molecular apropriada antes de tentar remissão livre de tratamento. O objectivo desta publicação é propor um algoritmo que permita guiar a prática clínica em Portugal relativa a doentes com leucemia mielóide crónica ou em fase crónica que pretendam tentar remissão livre de tratamento, dada a ausência de recomendações nacionais.

Topic platelet gel application in chronic diabetic foot ulcers.

In this observational study performed during 45 months we evaluated patients with chronic and recalcitrant diabetic ulcers who were treated with homologous platelet gel. METHODS: platelet gels were obtained from homologous platelet concentrates that were aliquoted and freezed, being then activated with calcium gluconate and applied in the ulcer after cleaning and debridement. We evaluated patient's comorbidities, wound characteristics (size, tissue, inflammatory signs, pain), number and time of treatment as well as outcome (classified as complete epithelialization; partial improvement- 50% reduction in wound size or pain relief; no evolution). RESULTS: Fifty-two patients (42 males, 10 females), with a median age of 65 years (range 43-85) were proposed for platelet gel. The following associated comorbidities were observed: hypertension (n = 41), dyslipidemia (n = 29), polyneuropathy (n = 30), peripheral arteriopathy (n = 32), retinopathy (n = 21), nephropathy (n = 15), cardiac ischemic disease (n = 14), obesity (n = 9). Thirty-eight patients presented with 3 or more associated comorbidities. The more frequent ulcer locations were sole of the foot (n = 13) and heel (n = 10). The median number of applications was 16, during 8.5 weeks. Nineteen patients (44%) achieved complete healing, 3 patients (7%) had a partial response and 21 (49%) had no progression. We did not observe a statistically significant relationship between patient age and response nor between number of comorbidities and response. We observed a more favorable evolution in patients with good compliance and good glycemic control. CONCLUSION: Platelet gel is an effective therapeutic alternative, provided compliance and effective metabolic control are ensured.

Electromagnetic Rod in Lower Limb Lengthening: A Technical Note for Shaft Osteotomy.

PURPOSE: Long bone lengthening procedures are paramount in the treatment of limb length discrepancies. We witnessed a revolution in the treatment paradigm of this pathology with the development of expandable intramedullary rods. Endomedular nailing might be technically demanding and some steps are critical for success. The aim of authors is to describe a technical note of the PRECICE system that may ease femoral nailing and fixation: the nail can be advanced through the femur and proximal and distal fixation performed previous to complete femoral osteotomy. MATERIALS AND METHODS: The authors present a case series of XX patients in which the limb lengthening has been performed with partial osteotomy with Gigli saw, nail advancement, proximal and distal fixation, and osteotomy completion at the end of the procedure. RESULTS: After 18 consecutive limb (femoral) lengthening operations with this technical variation in PRECICE, nail patients presented no significant lower limb length discrepancy. There were no records of rotational deformities, nonunion, or infection. Material failure was not reported. CONCLUSION: This technical note is another positive variable that can help to ease the procedure, minimise possible complications, and confirm magnetic expandable nails as the gold standard technique in limb lengthening procedures and it might be applied to other nailing systems for limb lengthening procedures. HOW TO CITE THIS ARTICLE: Lopes M, Nunes B, Couto A, et al. Electromagnetic Rod in Lower Limb Lengthening: A Technical Note for Shaft Osteotomy. Strategies Trauma Limb Reconstr 2019;14(3):139-141.

Bipartição de trânsito intestinal isolada: uma nova estratégia para cirurgia em estágios em superobesos / Isolated intestinal transit bipartition: a new strategy for staged surgery in superobesity

RESUMO Objetivo: o duodenal switch é um procedimento disabsortivo complexo, associado aos melhores resultados de perda de peso e controle metabólico. A cirurgia em etapas, com gastrectomia vertical como primeiro passo, é uma opção para reduzir complicações em pacientes superobesos. No entanto, alguns problemas persistem, como fígados grandes, que dificultam a abordagem cirúrgica, e complicações, como fístulas graves. A bipartição do trânsito intestinal é um modelo modificado e simplificado de desvio biliopancreático que complementa a gastrectomia vertical. É semelhante ao duodenal switch com menores complexidade e consequências nutricionais. Este estudo avaliou a viabilidade e a segurança da bipartição de trânsito isolada como o procedimento inicial para tratar a superobesidade. Métodos: foram incluídos 41 pacientes superobesos, com IMC médio de 54,5±3,5kg/m2. Uma bipartição de trânsito isolada laparoscópica foi realizada como o primeiro procedimento em uma nova abordagem em duas etapas. Perda de peso e complicações foram analisadas durante um ano de acompanhamento. Resultados: todos os procedimentos foram completados por laparoscopia. Após seis meses, a perda média de excesso de peso percentual foi de 28%, permanecendo estável até o final do estudo. Não houve dificuldades intraoperatórias. Metade dos pacientes apresentou diarreia precoce e três tiveram úlceras marginais. Não houve complicações cirúrgicas maiores ou mortes. Conclusão: a bipartição de trânsito isolada laparoscópica é uma nova opção para uma abordagem em estágios na superobesidade, que pode permitir um segundo procedimento mais seguro após a perda de peso ao longo de seis meses. Pode ser útil, particularmente, para pacientes com obesidade grave.

ABSTRACT Objective: biliopancreatic diversion with duodenal switch is a complex, malabsorptive procedure, associated with improved weight loss and metabolic control. Staged surgery with sleeve gastrectomy as the first stage is an option for reducing complications in superobese patients. However, some problems persist: large livers can hamper the surgical approach and complications such as leaks can be severe. Intestinal transit bipartition is a modified and simplified model of biliopancreatic diversion that complements sleeve gastrectomy. It is similar to the duodenal switch, but with less complexity and fewer nutritional consequences. This study assessed the feasibility and safety of isolated transit bipartition as the initial procedure in a two-step surgery to treat superobesity. Methods: this prospective study included 41 superobese patients, with mean BMI 54.5±3.5kg/m2. We performed a laparoscopic isolated transit bipartition as the first procedure in a new staged approach. We analyzed weight loss and complications during one year of follow-up. Results: we completed all the procedures by laparoscopy. After six months, the mean percent excess weight loss was 28%, remaining stable until the end of the study. There were no intraoperative difficulties. Half of the patients experienced early diarrhea, and three had marginal ulcers. There were no major surgical complications or deaths. Conclusion: isolated laparoscopic transit bipartition is a new option for a staged approach in superobesity, which can provide a safer second procedure after effective weight loss over six months. It may be useful particularly in the management of patients with severe obesity.

Two consecutive limb lengthenings with the same PRECICE nail: a technical note.

PURPOSE: The most significant advance in our time about limb lengthening is the magnetic lengthening nail, as the first reports appeared to show good results with accurate lengthening rates and good regenerate bone formation. The described complication rate is generally low. They avoid external fixation elements, and are activated transcutaneously, so the patient's pain and discomfort are reduced and the rehabilitation is faster and more effective. The aim of authors is to describe a special technical issue of the PRECICE system: the nail can be extended inside the patient limb (after the osteotomy), but it also can be retracted inside the limb after achieving the bone union. METHODS: The authors present a case in which the limb lengthening has been performed in consecutive lengthening periods using the same nail. The nail was extended and retracted by altering the settings on the external remote control as well as accurately setting the rate of distraction. RESULTS: After two consecutive femoral lengthening with the same PRECICE nail, the patient no longer has a significant lower limb length discrepancy and patient satisfaction was high. During this clinical case, we were not confronted with any type of complications. CONCLUSION: This technique utilizes the principles and advantages of lengthening over an magnetic lengthening nail, avoids the necessity of nail removal and minimizes the complication rates and the overall time for complete recovery. LEVEL OF EVIDENCE: Level IV.

KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia.

INTRODUCTION: Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML). CASE REPORT: A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184 µg/L). The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2-CD25+ MC. The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT). The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT. CONCLUSIONS: This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.

A pilot study on the usefulness of peripheral blood flow cytometry for the diagnosis of lower risk myelodysplastic syndromes: the "MDS thermometer".

BACKGROUND: Immunophenotypic analysis of the bone marrow (BM) cells has proven to be helpful in the diagnosis of Myelodysplastic Syndromes (MDS). However, the usefulness of flow cytometry (FCM) for the detection of myelodysplasia in the peripheral blood (PB) still needs to be investigated. The aim of this pilot study was to evaluate the value of FCM-based PB neutrophil and monocyte immunophenotyping for the diagnosis of lower risk MDS (LR-MDS). METHODS: We evaluated by 8-color FCM the expression of multiple cell surface molecules (CD10, CD11b, CD11c, CD13, CD14, CD15, CD16, CD34, CD45, CD56, CD64 and HLA-DR) in PB neutrophils and monocytes from a series of 14 adult LR-MDS patients versus 14 normal individuals. RESULTS: Peripheral blood neutrophils from patients with LR-MDS frequently had low forward scatter (FSC) and side scatter (SSC) values and low levels of CD11b, CD11c, CD10, CD16, CD13 and CD45 expression, in that order, as compared to normal neutrophils. In addition, patients with LR-MDS commonly display a higher fraction of CD14+CD56+ and a lower fraction of CD14+CD16+ monocytes in the PB. Based on these results, we proposed an immunophenotyping score based on which PB samples from patients with LR-MDS could be distinguished from normal PB samples with a sensitivity 93% and a specificity of 100%. In addition, we used this score to construct the MDS Thermometer, a screening tool for detection and monitoring of MDS in the PB in clinical practice. CONCLUSIONS: Peripheral blood neutrophil and monocyte immunophenotyping provide useful information for the diagnosis of LR-MDS, as a complement to cytomorphology. If validated by subsequent studies in larger series of MDS patients and extended to non-MDS patients with cytopenias, our findings may improve the diagnostic assessment and avoid invasive procedures in selected groups of MDS patients.

Endovascular Treatment of Aortic Aneurysms and Blood Transfusion. What do We Need?

INTRODUCTION: Comparatively to open repair, endovascular aneurysm repair has reduced transfusion rates but thereâs no recommendation about number of red blood cells units to be crossmatched preoperatively. Our aim is contribute to the analysis of red blood cells units needs in endovascular and hybrid aortic aneurysm repair and developing a protocol for maximum surgical blood orders schedule. MATERIAL AND METHODS: We retrospectively analyzed our prospective database of elective endovascular aneurysm repair from 2001 to 2012. We analyzed patients' age, gender, ASA classification, maximum surgical blood orders schedule, red blood cells units transfused and timings, types of endoprosthesis, red blood cells units consumption/endoprosthesis' type ratio, crossmatch to transfusion ratio, conversion to open repair, hemoglobin concentrations before surgery and discharge. RESULTS: We selected 187 patients, 90% men, mean age 73.1, ASA mode III. The endoprosthesis were aorto-bi-iliac in 71%, aorto-uni-iliac in 23% and thoracic in 6%. Of these, 72,6% of the patients did not require blood transfusion. We transfused 171 red blood cells units. Crossmatch to transfusion ratio was 10.1 until 2010 and 7.3 after. The ratio of red blood cells units consumption/endoprosthesis in the first 24 hours was 0.21 red blood cells units/aorto-bi-iliac, 0.46 red blood cells units/aorto-uni-iliac, 0.8 red blood cells units/thoracic, 1.3 red blood cells units/hybrid-thoracic and 2 red blood cells units/hybrid-aorto-bi-iliac. A statistical correlation was observed between red blood cells units transfused postoperatively and type of endoprosthesis (p < 0.001) and between ASA classification and red blood cells units transfused after 24 hours (p < 0.01). DISCUSSION: Guidelines from the British Society of Haematology are based on a crossmatch to transfusion ratio of 2:1. Our crossmatch to transfusion ratio was 10.1 until 2010 and 7.3 from 2011 to 2012. CONCLUSION: These results changed our policy of maximum surgical blood orders schedule for endovascular aneurysm repair. We now type and screen aorto-bi-iliac and aorto-uni-iliac. We crossmatch two red blood cells units for thoracic, three red blood cells units for hybrid thoracic and four red blood cells units for hybrid abdominal procedures. This may lead to financial savings, improved efficiency and reduce workload in hematology department.

Introdução: O tratamento endovascular dos aneurismas da aorta reduziu as taxas de transfusão. Não existem recomendações relativamente às unidades de glóbulos vermelhos a serem tipadas por crossmatch pré-operatoriamente. O nosso objetivo é contribuir para a análise das unidades de glóbulos vermelhos necessárias no tratamento endovascular dos aneurismas da aorta e na cirurgia híbrida de aneurismas da aorta e definir um protocolo do Maximum Surgical Blood Orders Schedule. Material e Métodos: Analisámos retrospetivamente a base de dados prospectiva dos doentes tratados eletivamente por tratamento endovascular dos aneurismas da aorta, entre 2001 e 2012. Analisamos idade, género, classe ASA, Maximum Surgical Blood Orders Schedule, unidades de glóbulos vermelhos transfundidas e tempos, endoprótese, relação unidades de glóbulos vermelhos consumidas/endoprótese, relação unidades crossmatched/transfundidas, conversão para cirurgia convencional, hemoglobina pré-operatória e na alta. Resultados: Selecionamos para análise 187 doentes, 90% homens, idade média 73,1, classe ASA III mais frequente. Usamos próteses aorto-bi-iliaca em 71%, aorto-uni-iliaca 23% e torácica 6%. Não necessitaram transfusão 72,6%. Transfundimos 171 unidades de glóbulos vermelhos. A relação unidades crossmatched/transfundidas foi 10,1 até 2010 e 7,3 após. A relação unidades de glóbulos vermelhos consumidas/endoprótese nas primeiras 24 horas foi 0,21 unidades de glóbulos vermelhos/aorto-bi-iliaca, 0,46 unidades de glóbulos vermelhos/aorto-uni-iliaca, 0,8 unidades de glóbulos vermelhos/torácica, 1,3 unidades de glóbulos vermelhos/híbrida-torácica e duas unidades de glóbulos vermelhos/híbrida-aorto-bi-iliaca. Obtivemos relação estatisticamente significativa entre unidades de glóbulos vermelhos transfundidas/endoprótese (p < 0,001) e entre classificação ASA e unidades de glóbulos vermelhos transfundidas após 24 h (p < 0,01). Discussão: As recomendações da British Society of Haematology baseiam-se numa relação unidades crossmatched/transfundidas de 2:1. Na nossa instituição, a relação unidades crossmatched/transfundidas foi de 10,1 até 2010 e 7,3 de 2011 a 2012. Conclusões: Os resultados mudaram o nosso Maximum Surgical Blood Orders Schedule para o tratamento endovascular dosaneurismas da aorta. Atualmente procedemos ao teste 'type and screen' para próteses aorto-bi-iliaca e aorto-uni-iliaca e a testes de crossmatch de duas unidades de glóbulos vermelhos para torácica, três para híbrida-torácica e quatro para híbrida-abdominal. Isto pode levar a menos gastos, aumento de eficácia e reduzir a sobrecarga no departamento de hematologia.

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.

BACKGROUND: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the primary cause of morbidity and mortality. Macrocytosis and increased fetal hemoglobin, two indicators of bone marrow stress erythropoiesis, are generally the first hematological manifestations to appear in FA. However, the significance of RDW and its possible relation to stress erythropoiesis have never been explored in FA. In the present study we analyzed routine complete blood counts from 34 FA patients and evaluated RDW, correlating with the hematological parameters most consistently associated with the FA phenotype. RESULTS: We showed, for the first time, that RDW is significantly increased in FA. We also showed that increased RDW is correlated with thrombocytopenia, neutropenia and, most importantly, highly correlated with anemia. Analyzing sequential hemograms from 3 FA patients with different clinical outcomes, during 10 years follow-up, we confirmed a consistent association between increased RDW and decreased hemoglobin, which supports the postulated importance of RDW in the evaluation of hematological disease progression. CONCLUSIONS: This study shows, for the first time, that RDW is significantly increased in FA, and this increment is correlated with neutropenia, thrombocytopenia, and highly correlated with anemia. According to the present results, it is suggested that increased RDW can be a novel marker of stress erythropoiesis in FA.

Congenital dislocation of the patella - clinical case.

Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

A luxação congênita da patela é uma patologia rara, em que a patela se encontra permanentemente luxada e manualmente irredutível. A patela desenvolve-se normalmente como um osso sesamoide do fêmur. A luxação congênita da patela resulta da falência da rotação interna do miótomo que forma o fêmur, músculo quadricípite e o aparelho extensor. Usualmente manifesta-se imediatamente após o nascimento, embora em alguns casos raros o diagnóstico possa ser adiado até a adolescência/idade adulta. O diagnóstico precoce é importante, permite a correção cirúrgica, evita as sequelas tardias, notadamente alterações degenerativas precoces do joelho. É apresentado um caso de luxação permanente da patela, numa criança de sexo feminino, com sete anos.

Congenital dislocation of the patella - clinical case / Luxação congênita da patela - Caso clínico

Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

A luxação congênita da patela é uma patologia rara, em que a patela se encontra permanentemente luxada e manualmente irredutível. A patela desenvolve-se normalmente como um osso sesamoide do fêmur. A luxação congênita da patela resulta da falência da rotação interna do miótomo que forma o fêmur, músculo quadricípite e o aparelho extensor. Usualmente manifesta-se imediatamente após o nascimento, embora em alguns casos raros o diagnóstico possa ser adiado até a adolescência/idade adulta. O diagnóstico precoce é importante, permite a correção cirúrgica, evita as sequelas tardias, notadamente alterações degenerativas precoces do joelho. É apresentado um caso de luxação permanente da patela, numa criança de sexo feminino, com sete anos.