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ABSTRACT Introduction: Although still rare, pulmonary embolism (PE) in children has been increasing over the years. Data regarding this group of patients are still sparse, which contributes to the lack of standardized prophylaxis protocols and the misdiagnosis. This study aimed to determine the incidence of pediatric PE at a Brazilian tertiary hospital, describe clinical characteristics and identify possible risk factors. We also analyzed the diagnosis and management of PE. Methods: This was a retrospective review of tertiary Brazilian single-center data of all pediatric patients (0 - 18 years) with acute PE, diagnosed radiologically, from September 2009 to May 2019. Results: The incidence of PE was 3.3 cases per 10,000 hospitalized children. All the twenty-three cases had some risk factor identified and sixteen of them (69.5%) had more than one risk factor. The most important were central venous catheter (39.1%), malignancy (34.8%) and recent surgery (34.8%). Among the children with identifiable symptoms (69.5%), the most common was dyspnea (56.2%). Only one patient did not receive antithrombotic therapy because of the high bleeding risk and most patients (70.6%) were treated for 3 to 6 months. Among the nineteen patients alive at the end of the six-month follow-up, ten (52.6%) repeated the PE image control. Seven of them (70.0%) had complete or partial resolution of the thrombosis and none had worsening images. Conclusion: Our lower incidence than that of the current literature may reflect underdiagnosis due to low suspicion of PE. At least one risk factor was identified in all patients, which emphasizes the importance of increasing awareness of high-risk children.

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INTRODUCTION: Although still rare, pulmonary embolism (PE) in children has been increasing over the years. Data regarding this group of patients are still sparse, which contributes to the lack of standardized prophylaxis protocols and the misdiagnosis. This study aimed to determine the incidence of pediatric PE at a Brazilian tertiary hospital, describe clinical characteristics and identify possible risk factors. We also analyzed the diagnosis and management of PE. METHODS: This was a retrospective review of tertiary Brazilian single-center data of all pediatric patients (0 - 18 years) with acute PE, diagnosed radiologically, from September 2009 to May 2019. RESULTS: The incidence of PE was 3.3 cases per 10,000 hospitalized children. All the twenty-three cases had some risk factor identified and sixteen of them (69.5%) had more than one risk factor. The most important were central venous catheter (39.1%), malignancy (34.8%) and recent surgery (34.8%). Among the children with identifiable symptoms (69.5%), the most common was dyspnea (56.2%). Only one patient did not receive antithrombotic therapy because of the high bleeding risk and most patients (70.6%) were treated for 3 to 6 months. Among the nineteen patients alive at the end of the six-month follow-up, ten (52.6%) repeated the PE image control. Seven of them (70.0%) had complete or partial resolution of the thrombosis and none had worsening images. CONCLUSION: Our lower incidence than that of the current literature may reflect underdiagnosis due to low suspicion of PE. At least one risk factor was identified in all patients, which emphasizes the importance of increasing awareness of high-risk children.

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This study assessed the technical performance of a rapid lateral flow immunochromatographic assay (LFIA) for the detection of anti-SARS-CoV-2 IgG and compared LFIA results with chemiluminescent immunoassay (CLIA) results and an in-house enzyme immunoassay (EIA). To this end, a total of 216 whole blood or serum samples from three groups were analyzed: the first group was composed of 68 true negative cases corresponding to blood bank donors, healthy young volunteers, and eight pediatric patients diagnosed with other coronavirus infections. The serum samples from these participants were obtained and stored in a pre-COVID-19 period, thus they were not expected to have COVID-19. In the second group of true positive cases, we chose to replace natural cases of COVID-19 by 96 participants who were expected to have produced anti-SARS-CoV-2 IgG antibodies 30-60 days after the vaccine booster dose. The serum samples were collected on the same day that LFIA were tested either by EIA or CLIA. The third study group was composed of 52 participants (12 adults and 40 children) who did or did not have anti-SARS-CoV-2 IgG antibodies due to specific clinical scenarios. The 12 adults had been vaccinated more than seven months before LFIA testing, and the 40 children had non-severe COVID-19 diagnosed using RT-PCR during the acute phase of infection. They were referred for outpatient follow-up and during this period the serum samples were collected and tested by CLIA and LFIA. All tests were performed by the same healthcare operator and there was no variation of LFIA results when tests were performed on finger prick whole blood or serum samples, so that results were grouped for analysis. LFIA's sensitivity in detecting anti-SARS-CoV-2 IgG antibodies was 90%, specificity 97.6%, efficiency 93%, PPV 98.3%, NPV 86.6%, and likelihood ratio for a positive or a negative result were 37.5 and 0.01 respectively. There was a good agreement (Kappa index of 0.677) between LFIA results and serological (EIA or CLIA) results. In conclusion, LFIA analyzed in this study showed a good technical performance and agreement with reference serological assays (EIA or CLIA), therefore it can be recommended for use in the outpatient follow-up of non-severe cases of COVID-19 and to assess anti-SARS-CoV-2 IgG antibody production induced by vaccination and the antibodies decrease over time. However, LFIAs should be confirmed by using reference serological assays whenever possible.

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OBJECTIVES: To compare demographic/clinical/laboratory/treatments and outcomes among children and adolescents with laboratory-confirmed coronavirus disease 2019 (COVID-19). METHODS: This was a cross-sectional study that included patients diagnosed with pediatric COVID-19 (aged <18 years) between April 11, 2020 and April 22, 2021. During this period, 102/5,951 (1.7%) of all admissions occurred in neonates, children, and adolescents. Furthermore, 3,962 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) detection samples were processed in patients aged <18 years, and laboratory-confirmed COVID-19 occurred in 155 (4%) inpatients and outpatients. Six/155 pediatric patients were excluded from the study. Therefore, the final group included 149 children and adolescents (n=97 inpatients and 52 outpatients) with positive SARS-CoV-2 results. RESULTS: The frequencies of sore throat, anosmia, dysgeusia, headache, myalgia, nausea, lymphopenia, pre-existing chronic conditions, immunosuppressive conditions, and autoimmune diseases were significantly reduced in children and adolescents (p<0.05). Likewise, the frequencies of enoxaparin use (p=0.037), current immunosuppressant use (p=0.008), vasoactive agents (p=0.045), arterial hypotension (p<0.001), and shock (p=0.024) were significantly lower in children than in adolescents. Logistic regression analysis showed that adolescents with laboratory-confirmed COVID-19 had increased odds ratios (ORs) for sore throat (OR 13.054; 95% confidence interval [CI] 2.750-61.977; p=0.001), nausea (OR 8.875; 95% CI 1.660-47.446; p=0.011), and lymphopenia (OR 3.575; 95% CI 1.355-9.430; p=0.010), but also had less hospitalizations (OR 0.355; 95% CI 0.138-0.916; p=0.032). The additional logistic regression analysis on patients with preexisting chronic conditions (n=108) showed that death as an outcome was significantly associated with pediatric severe acute respiratory syndrome (SARS) (OR 22.300; 95% CI 2.341-212.421; p=0.007) and multisystem inflammatory syndrome in children (MIS-C) (OR 11.261; 95% CI 1.189-106. 581; p=0.035). CONCLUSIONS: Half of the laboratory-confirmed COVID-19 cases occurred in adolescents. Individuals belonging to this age group had an acute systemic involvement of SARS-CoV-2 infection. Pediatric SARS and MIS-C were the most important factors associated with the mortality rate in pediatric chronic conditions with COVID-19.

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BACKGROUND/AIMS: Obesity leads to increased risk of thromboembolic events in adults, but few studies have addressed the relationship between obesity and thrombogenic risk during childhood. The aim of this study was to evaluate the prothrombotic state of obese children in comparison with healthy children. METHODS: Thrombin generation, fibrinogen, and D-dimer levels, along with metabolic parameters, were measured in 72 prepubertal children, of which 47 were obese and 25 eutrophic. RESULTS: A significant increase in thrombin generation, fibrinogen, and dyslipidemia was found among obese patients. CONCLUSION: A prothrombotic state develops in childhood obesity during the prepubertal phase.

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Abstract Introduction: Little attention is given to thrombosis associated with pediatric acute promyelocytic leukemia (APL). This study describes the thrombotic and hemorrhagic manifestations of APL in pediatric patients and evaluates their hemostasis, based on coagulation tests. Methods: Inclusion criteria were age 0-18 years and APL diagnosis between April 2005 and November 2017. Patients who had received blood transfusion prior to coagulation tests were excluded. Baseline coagulation tests, hematologic counts, and hemorrhagic/thrombotic manifestations were evaluated. Results: Median age was 10.7 years (1-15 years). The initial coagulation tests revealed a median Hgb of 8.3 g/dL (4.7-12.9 g/dL), median leucocyte count of 10.9 × 109/L (1.1-95.8 × 109/L), median platelet count of 31.8 × 109/L (2.0-109.0 × 109/L), median activated partial thromboplastin time (aPTT) of 31.7 s (23.0-50.4 s), median aPTT ratio of 1.0 (0.78-1.6), median thromboplastin time (PT) of 17.5 s (13.8-27.7 s), median PT activity of 62% (25-95 %), and median fibrinogen of 157.7 mg/dL (60.0-281.0 mg/dL). Three patients (13%) had thrombosis. At diagnosis, 21 patients (91.3%) had bruising, one patient (4.3%) had splenic vein and artery thrombosis and one patient (4.3%) presented without thrombohemorrhagic manifestations. During treatment, two patients (8.6%) had thrombosis. Conclusion: Knowledge of thrombosis in pediatric APL is important to determine its risk factors and the best way to treat and prevent this complication.

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BACKGROUND: Kidney transplantation is the gold standard treatment for children with end-stage chronic kidney disease. Graft thrombosis is an important cause of graft failure, with high morbidity, mortality, and impact on quality of life and to the health system. The role of thromboprophylaxis in this setting is still uncertain. We describe the demographic characteristics and thrombotic risk factors in pediatric renal transplant recipients, determining the rate of renal graft thrombosis, and discuss the role of thromboprophylaxis. METHODS: This retrospective study reviewed 96 pediatric renal transplantations between 2008 and 2017 in a single hospital. Patients were assigned to one of two groups: children who did not receive thromboprophylaxis after transplantation and those who did. We reported their characteristics, comparing the incidence of graft thrombosis and hemorrhagic complications between the groups. RESULTS: Forty-nine patients (51%) received thromboprophylaxis. Thrombosis occurred in 5 patients who did not receive thromboprophylaxis (5.2%) compared with none in the group that did (p = .025). In all patients, renal graft thrombosis resulted in early graft loss. Thirteen patients had hemorrhagic complications. Seven were unrelated to pharmacological thromboprophylaxis (2 major, 1 moderate, and 4 minor bleeding, which either did not receive thromboprophylaxis or had bleeding prior to thromboprophylaxis), while six occurred during heparinization (2 major, 1 moderate, and 3 minor bleeding). There was no significant difference in the rate of hemorrhagic complications between the groups (p = .105). CONCLUSIONS: The rate of renal graft thrombosis was 5.2%. Thrombosis remains an important cause of early graft loss. Thromboprophylaxis was associated with a reduction in graft thrombosis without increased risk of bleeding.

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INTRODUCTION: Little attention is given to thrombosis associated with pediatric acute promyelocytic leukemia (APL). This study describes the thrombotic and hemorrhagic manifestations of APL in pediatric patients and evaluates their hemostasis, based on coagulation tests. METHODS: Inclusion criteria were age 0-18 years and APL diagnosis between April 2005 and November 2017. Patients who had received blood transfusion prior to coagulation tests were excluded. Baseline coagulation tests, hematologic counts, and hemorrhagic/thrombotic manifestations were evaluated. RESULTS: Median age was 10.7 years (1-15 years). The initial coagulation tests revealed a median Hgb of 8.3 g/dL (4.7-12.9 g/dL), median leucocyte count of 10.9 × 109/L (1.1-95.8 × 109/L), median platelet count of 31.8 × 109/L (2.0-109.0 × 109/L), median activated partial thromboplastin time (aPTT) of 31.7 s (23.0-50.4 s), median aPTT ratio of 1.0 (0.78-1.6), median thromboplastin time (PT) of 17.5 s (13.8-27.7 s), median PT activity of 62% (25-95 %), and median fibrinogen of 157.7 mg/dL (60.0-281.0 mg/dL). Three patients (13%) had thrombosis. At diagnosis, 21 patients (91.3%) had bruising, one patient (4.3%) had splenic vein and artery thrombosis and one patient (4.3%) presented without thrombohemorrhagic manifestations. During treatment, two patients (8.6%) had thrombosis. CONCLUSION: Knowledge of thrombosis in pediatric APL is important to determine its risk factors and the best way to treat and prevent this complication.

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OBJECTIVES: To compare demographic/clinical/laboratory/treatments and outcomes among children and adolescents with laboratory-confirmed coronavirus disease 2019 (COVID-19). METHODS: This was a cross-sectional study that included patients diagnosed with pediatric COVID-19 (aged <18 years) between April 11, 2020 and April 22, 2021. During this period, 102/5,951 (1.7%) of all admissions occurred in neonates, children, and adolescents. Furthermore, 3,962 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) detection samples were processed in patients aged <18 years, and laboratory-confirmed COVID-19 occurred in 155 (4%) inpatients and outpatients. Six/155 pediatric patients were excluded from the study. Therefore, the final group included 149 children and adolescents (n=97 inpatients and 52 outpatients) with positive SARS-CoV-2 results. RESULTS: The frequencies of sore throat, anosmia, dysgeusia, headache, myalgia, nausea, lymphopenia, pre-existing chronic conditions, immunosuppressive conditions, and autoimmune diseases were significantly reduced in children and adolescents (p<0.05). Likewise, the frequencies of enoxaparin use (p=0.037), current immunosuppressant use (p=0.008), vasoactive agents (p=0.045), arterial hypotension (p<0.001), and shock (p=0.024) were significantly lower in children than in adolescents. Logistic regression analysis showed that adolescents with laboratory-confirmed COVID-19 had increased odds ratios (ORs) for sore throat (OR 13.054; 95% confidence interval [CI] 2.750-61.977; p=0.001), nausea (OR 8.875; 95% CI 1.660-47.446; p=0.011), and lymphopenia (OR 3.575; 95% CI 1.355-9.430; p=0.010), but also had less hospitalizations (OR 0.355; 95% CI 0.138-0.916; p=0.032). The additional logistic regression analysis on patients with preexisting chronic conditions (n=108) showed that death as an outcome was significantly associated with pediatric severe acute respiratory syndrome (SARS) (OR 22.300; 95% CI 2.341-212.421; p=0.007) and multisystem inflammatory syndrome in children (MIS-C) (OR 11.261; 95% CI 1.189-106. 581; p=0.035). CONCLUSIONS: Half of the laboratory-confirmed COVID-19 cases occurred in adolescents. Individuals belonging to this age group had an acute systemic involvement of SARS-CoV-2 infection. Pediatric SARS and MIS-C were the most important factors associated with the mortality rate in pediatric chronic conditions with COVID-19.

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OBJECTIVE: To report a single-center experience with thrombolytic therapy using recombinant tissue plasminogen activator (rt-PA) in preterm neonates with severe thrombotic events, in terms of thrombus resolution and bleeding complications. STUDY DESIGN: This retrospective study included 21 preterm neonates with severe venous thrombotic events admitted to the neonatal intensive care unit, identified in our pharmacy database from January 2001 to December 2016, and treated with rt-PA until complete or partial clot lysis, no-response or bleeding complications. Our primary outcome was thrombus resolution. RESULTS: Twenty-one preterm neonates were treated with rt-PA for an average of 2.9 cycles. Seventeen patients (80.9%) had superior vena cava thrombosis and superior vena cava syndrome. All patients had a central venous catheter, parenteral nutrition, mechanical ventilation, and sepsis. Fifteen patients (71.4%) were extremely preterm, 11 (52.4%) were extremely low birth weight, and seven (33.3%) were very low birth weight. The patency rate was 85.7%, complete lysis occurred in 11 (52.4%) patients, and partial lysis in seven (33.3%). Minor bleeding occurred in five (23.8%) patients, three patients (14.2%) had clinically relevant nonmajor bleeding events, and major bleeding occurred in six (28%) patients. CONCLUSION: In this study, the rate of thrombus resolution in preterm neonates treated with rt-PA were similar to the percentages reported in children and adolescents, with a high rate of bleeding. Therefore, rt-PA thrombolytic therapy should only be considered as a treatment option for severe life-threatening thrombosis in premature neonates for whom the benefits of the thrombolytic treatment outweigh the risks of bleeding.

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Hepatitis A vaccine is recommended for all individuals with hemophilia, although patients with bleeding disorders should avoid intramuscular (IM) injections. To date, only few studies showed subcutaneous (SC) route immunogenicity is comparable with the IM route. Therefore, this randomized study compared immunogenicity, long term protection and safety of hepatitis A vaccine administered by SC route with the IM route in 78 children and adults with hemophilia and other bleeding disorders. Thirty-eight patients had serology performed after first vaccine dose, determining seroconversion rates of 83.3% and 90.0% for the SC and the IM group, respectively (p = 0.5). Median IgG CO/OD value for the SC group was almost the double compared with the IM group (4.4 vs 2.6, p = 0.2). After second vaccine dose, seroconversion rates for the SC group was 97.5% and for the IM group was 97.4% (p = 1.0). Of the two patients who did not have seroconversion, interval between vaccine dose and serology was only one and two days for the SC and the IM group, respectively and in the following routine antibody dosage they presented seroconversion (100% for both groups). Median IgG CO/OD value for the SC group was greater than the IM group (72.5 vs. 58.0, p = 0.2). In a median of nine years after second vaccine dose, median IgG S/CO value for the SC group was slightly greater than the IM group (7.6 vs. 7.4, p = 0.8). There were no serious adverse events in both groups. Five (12.5%) patients of the SC group and seven (18.4%) of the IM group presented adverse events (p = 0.5). Twice as many patients of the IM group had clotting factor concentrates need for adverse events (15.8% vs. 7.5%, p = 0.3). Therefore, hepatitis A vaccine administered subcutaneously is as immunogenic, long term protective and even safer than the intramuscular route.

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Abstract Due to the longer survival of critically ill children, venous thromboembolism is a problem which is becoming increasingly recognized in pediatric practice. In the last decades, several international studies have been published, shedding a light upon the epidemiology of this disease during childhood. These data show peculiarities in the clinical presentation and the significant morbidity and mortality. The new "epidemic of thrombosis" in pediatric hospitals points toward the urgent need for specific treatment and prevention protocols targeting this population. In Brazil, knowledge regarding this disease remains scarce. The lack of epidemiological data impacts both the clinical care and the design of specific public policies in the field. Thus, a national registry of pediatric venous thromboembolism is relevant to the proposal of an appropriate plan of action to create a qualified net of assistance. The improvement in educational initiatives related to the field of Pediatric Hemostasis is also very important. In this review, we have updated the epidemiological, clinical and therapeutic aspects of the disease, as well as the prevention strategies.

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Due to the longer survival of critically ill children, venous thromboembolism is a problem which is becoming increasingly recognized in pediatric practice. In the last decades, several international studies have been published, shedding a light upon the epidemiology of this disease during childhood. These data show peculiarities in the clinical presentation and the significant morbidity and mortality. The new "epidemic of thrombosis" in pediatric hospitals points toward the urgent need for specific treatment and prevention protocols targeting this population. In Brazil, knowledge regarding this disease remains scarce. The lack of epidemiological data impacts both the clinical care and the design of specific public policies in the field. Thus, a national registry of pediatric venous thromboembolism is relevant to the proposal of an appropriate plan of action to create a qualified net of assistance. The improvement in educational initiatives related to the field of Pediatric Hemostasis is also very important. In this review, we have updated the epidemiological, clinical and therapeutic aspects of the disease, as well as the prevention strategies.

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OBJECTIVE: To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early diagnoses and follow-up. DATA SOURCES: Scientific articles in the PubMed and SciELO databases. The research was not limited to a specific time period and included all articles in such databases. DATA SYNTHESIS: The Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the loss of imprinted gene expression within the paternal chromosome 15q11-q13. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism and complex behavioral and intellectual difficulties. PWS individuals also may present other comorbidities, such as sleep disorders, scoliosis, constipation, dental issues and coagulation disorders. The follow-up protocol of the Children's Institute at Universidade de São Paulo is based on four main pillars: diet, exercise, recombinant human growth hormone (rhGH) therapy and behavioral and cognitive issues. The diet must include a caloric restriction of 900 kcal/day, according to the Prader-Willi Eating Pyramid and exercise plan is focused on daily aerobic exercises and postural therapy. The rhGH therapy is highly recommended by the international scientific literature and must be started as soon as the diagnostic is made. The management of behavioral issues is based on strategies to establish routine and rules. CONCLUSIONS: If the general pediatrician becomes more familiar with PWS, the diagnosis and treatment will start earlier, which is essential to improve the quality of life and care for these individuals.

OBJETIVO: Realizar uma revisão sobre a Síndrome de Prader-Willi (SPW) com base nas publicações mais recentes e fornecer recomendações ao pediatra geral para diagnóstico precoce e seguimento. FONTE DE DADOS: Artigos publicados nas bases Pubmed e SciELO. A pesquisa não foi limitada a um período e incluiu todos os artigos das bases de dados. SÍNTESE DOS DADOS: A SPW é uma síndrome genética rara, resultante da perda do imprinting gênico expresso no cromossomo paterno 15q11-q13, sendo caracterizada por alterações endocrinológicas, como deficiência de hormônio de crescimento, obesidade, insuficiência adrenal central, hipotireoidismo, hipogonadismo, além de alterações comportamentais e déficit intelectual. Há outras comorbidades associadas, como distúrbios de sono, escoliose, constipação, problemas dentários e alterações de coagulação. O protocolo de seguimento da SPW do Instituto da Criança da Universidade de São Paulo se baseia em quarto pilares principais: dieta, exercício físico, terapia com hormônio de crescimento humano recombinante (rhGH) e manejo comportamental e cognitivo. A dieta deve ser restrita a 900 kcal/dia, de acordo com a Pirâmide Alimentar do Prader-Willi, e o exercício físico deve ser diário, aeróbico e postural. A terapia com rhGH é fortemente recomendada pela literatura científica internacional e deve ser iniciada assim que for realizado o diagnóstico da síndrome. O manejo do comportamento é realizado com estratégias para estabelecer rotina e regras. CONCLUSÕES: Se a SPW se tornar mais familiar ao pediatra geral, o diagnóstico e o tratamento começarão mais precocemente, o que irá melhorar a qualidade de vida e os cuidados desses pacientes.

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RESUMO Objetivo: Realizar uma revisão sobre a Síndrome de Prader-Willi (SPW) com base nas publicações mais recentes e fornecer recomendações ao pediatra geral para diagnóstico precoce e seguimento. Fonte de dados: Artigos publicados nas bases Pubmed e SciELO. A pesquisa não foi limitada a um período e incluiu todos os artigos das bases de dados. Síntese dos dados: A SPW é uma síndrome genética rara, resultante da perda do imprinting gênico expresso no cromossomo paterno 15q11-q13, sendo caracterizada por alterações endocrinológicas, como deficiência de hormônio de crescimento, obesidade, insuficiência adrenal central, hipotireoidismo, hipogonadismo, além de alterações comportamentais e déficit intelectual. Há outras comorbidades associadas, como distúrbios de sono, escoliose, constipação, problemas dentários e alterações de coagulação. O protocolo de seguimento da SPW do Instituto da Criança da Universidade de São Paulo se baseia em quarto pilares principais: dieta, exercício físico, terapia com hormônio de crescimento humano recombinante (rhGH) e manejo comportamental e cognitivo. A dieta deve ser restrita a 900 kcal/dia, de acordo com a Pirâmide Alimentar do Prader-Willi, e o exercício físico deve ser diário, aeróbico e postural. A terapia com rhGH é fortemente recomendada pela literatura científica internacional e deve ser iniciada assim que for realizado o diagnóstico da síndrome. O manejo do comportamento é realizado com estratégias para estabelecer rotina e regras. Conclusões: Se a SPW se tornar mais familiar ao pediatra geral, o diagnóstico e o tratamento começarão mais precocemente, o que irá melhorar a qualidade de vida e os cuidados desses pacientes.

ABSTRACT Objective: To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early diagnoses and follow-up. Data sources: Scientific articles in the PubMed and SciELO databases. The research was not limited to a specific time period and included all articles in such databases. Data synthesis: The Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the loss of imprinted gene expression within the paternal chromosome 15q11-q13. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism and complex behavioral and intellectual difficulties. PWS individuals also may present other comorbidities, such as sleep disorders, scoliosis, constipation, dental issues and coagulation disorders. The follow-up protocol of the Children's Institute at Universidade de São Paulo is based on four main pillars: diet, exercise, recombinant human growth hormone (rhGH) therapy and behavioral and cognitive issues. The diet must include a caloric restriction of 900 kcal/day, according to the Prader-Willi Eating Pyramid and exercise plan is focused on daily aerobic exercises and postural therapy. The rhGH therapy is highly recommended by the international scientific literature and must be started as soon as the diagnostic is made. The management of behavioral issues is based on strategies to establish routine and rules. Conclusions: If the general pediatrician becomes more familiar with PWS, the diagnosis and treatment will start earlier, which is essential to improve the quality of life and care for these individuals.

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Objective: To evaluate the outcome of children with severe acquired aplastic anemia treated with rabbit antithymocyte globulin and cyclosporine as first-line treatment at this institution. Methods: Retrospective analysis of 26 pediatric patients with aplastic anemia, treated between 1996 and 2011 with rabbit antithymocyte globulin plus cyclosporine. Results: The overall response rate at six months was 34.6% (9/26), and the cumulative incidence of relapse was 26.5% (95% confidence interval [CI]: 1.4%-66%) at 5 years. The cumulative incidence of clonal evolution after immunosuppressive therapy was 8.3% (95% CI: 0.001%-53.7%) at five years with both clonal evolutions in non-responders who acquired monosomy 7 karyotype. The overall survival at five years was 73.6% (95% CI: 49.2%-87.5%). Conclusions: The present results confirm the poor response rate with rabbit antithymocyte globulin as first therapy in pediatrics patients, similar to what has been reported for patients of all ages. This confirmation is problematic in Brazil, given the lack of horse antithymocyte globulin in many markets outside the United States. .

Objetivo: Avaliar o resultado de crianças com anemia aplástica grave adquirida tratadas com globulina antitimocítica de coelho e ciclosporina como tratamento inicial em nosso instituto. Métodos: Análise retrospectiva de 26 pacientes pediátricos com anemia aplástica tratados entre 1996 e 2011 com globulina antitimocítica de coelho e ciclosporina. Resultados: A taxa de resposta geral em seis meses foi de 34,6% (9/26), e a incidência acumulada de recorrência foi de 26,5% (intervalo de confiança [IC] de 95%,1,4%-66%) em cinco anos. A incidência acumulada de evolução clonal após a terapia imunossupressora foi de 8,3% (IC 95%, 0,001%-53,7%) em cinco anos, com ambas as evoluções clonais em pacientes sem resposta que adquiriram o cariótipo com monossomia 7. A sobrevida geral em cinco anos foi de 73,6% (IC 95%, 49,2%-87,5%). Conclusões: Nossos resultados confirmam a baixa taxa de resposta com globulina antitimocítica de coelho como terapia inicial em pacientes pediátricos, da mesma forma como relatado para pacientes de todas as idades. Essa confirmação é problemática em nosso país devido à falta de globulina antitimocítica de cavalo em muitos mercados fora dos Estados Unidos, incluindo o Brasil. .

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OBJECTIVE: To evaluate the outcome of children with severe acquired aplastic anemia treated with rabbit antithymocyte globulin and cyclosporine as first-line treatment at this institution. METHODS: Retrospective analysis of 26 pediatric patients with aplastic anemia, treated between 1996 and 2011 with rabbit antithymocyte globulin plus cyclosporine. RESULTS: The overall response rate at six months was 34.6% (9/26), and the cumulative incidence of relapse was 26.5% (95% confidence interval [CI]: 1.4%-66%) at 5 years. The cumulative incidence of clonal evolution after immunosuppressive therapy was 8.3% (95% CI: 0.001%-53.7%) at five years with both clonal evolutions in non -responders who acquired monosomy 7 karyotype. The overall survival at five years was 73.6% (95% CI: 49.2%-87.5%). CONCLUSIONS: The present results confirm the poor response rate with rabbit antithymocyte globulin as first therapy in pediatrics patients, similar to what has been reported for patients of all ages. This confirmation is problematic in Brazil, given the lack of horse antithymocyte globulin in many markets outside the United States.

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Objetivo: Descrever o caso de um lactente portador de deficiência congênita de fator X e discutir o diagnóstico diferencial dessa coagulopatia rara. Relato do caso: Lactente, 54 dias de vida, sexo masculino, foi encaminhado paraavaliação hematológica devido a episódios prévios de hemorragia de etiologia a esclarecer. No segundo dia de vida, apresentou epistaxe e aumento do perímetro cefálico e, na segunda semana de vida, apresentou enterorragia. Foram realizados examesque evidenciaram TP e TTPA prolongados e antecedentes familiares sugestivos de diátese hemorrágica. Em nosso serviço, foram descartadascausas adquiridas que poderiam justificar o prolongamento dos tempos de coagulação (deficiência de vitamina K, infecção, hepatopatias) e também foram descartados sangramentos emoutros locais (sistema nervoso central e abdome). As dosagens dos fatores de coagulação II e V foram normais, sendo detectados níveis de fator X inferioresa 1% (FX < 1%), evidenciando deficiência grave desta proteína. Durante a investigação, o paciente apresentou novo episódio de enterorragia, sem descompensação hemodinâmica e recebeu plasma fresco congelado. Atualmente, está em seguimento ambulatorial, em uso profilático de concentrado de complexo protrombínico, sem manifestaçõeshemorrágicas. Conclusão: As coagulopatias congênitas são doenças hemorrágicas resultantes da deficiência quantitativa ou qualitativa de umaou mais das proteínas plasmáticas da coagulação. Os pacientes acometidos podem apresentar sangramentos de gravidade variável, espontâneosou pós-traumáticos, presentes ao nascimento ou diagnosticados ocasionalmente. Estas coagulopatiassão caracterizadas por herança genética, quadro clínico e laboratorial distintos entre si e, entre elas, as hemofilias e a doença de Von Willebrand são as mais comuns. São consideradas coagulopatias raras as deficiências de fatores I, II, V,...

Objective: To describe the case of an infant with congenital factor X deficiency and to discuss the differential diagnosis of other rare coagulopathies. Case report: Infant, 54-day-old male was referred for hematologic evaluation due to previous episodes of bleeding of unknown etiology. On the second day of life, he had epistaxis and increased head circumference and, in the second week of life, had rectal bleeding. Laboratory assays were performed and showed prolonged PT and APTT and family history suggestive of bleeding disorders. In our department, other acquired causes that could justify the prolongation of clotting time (vitaminK deficiency, infection, liver disease) were excluded and bleeding were also evaluated at other sites (central nervous system and abdomen). The levels of coagulation factors II and V were normal and detected levels of factor X less than 1% (FX<1%),suggesting serious deficiency of this protein. During the investigation, the patient presented a new episode of rectal bleeding, without hemodynamicinstability, and received fresh frozen plasma. He is currently in follow-up, receiving prophylactic prothrombin complex concentrate, without hemorrhagic manifestations. Conclusion: the congenital coagulopathies are bleeding disorders resulting from a quantitative or qualitative deficiency of one or more of the plasma procoagulant protein. The affected patients may have bleeding of varying sev rity, spotaneous or post traumatic, present at birthor diagnosed occasionally. These bleding disorders are characterized by specific genetic inheritance and clinical and laboratory characteristics. Amonginherited bleedingdisorders, the hemophilia and Von Willebrand disease are the most common. The deficienciesof factors I, II, V, VII, X and XIII are considered rare coagulation disorders and the differential diagnosis among these diseases is essential to guideappropriate therapy. In cases of severe deficiency of factor X, as patients may have...

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