Epilepsy and EEG Abnormalities in Congenital Zika Syndrome.

SUMMARY: The congenital Zika syndrome is a new entity of a group of etiologies that can lead to microcephaly and other brain damages during pregnancy, such as toxoplasmosis, rubeola, cytomegalovirus, and herpes simplex. The Zika virus crosses the placental barrier and, predominantly, affects neuronal progenitor cells. This disruptive process results in severe cortical developmental disorder, calcifications, cortical and subcortical atrophies, and malformations of the cerebellum, brain stem, and spinal cord. Children with congenital Zika syndrome have a set of clinical findings, such as cerebral palsy, dysphagia, orthopedic deformities, visual and auditory impairment, and, rarely, hydrocephalus. Because of the severity of brain lesions, epilepsy is a common finding and a frequent cause of increased morbidity. The prevalence of epilepsy in different series of patients ranges from 37.7% to 71.4%. The aim of this study is to review the studies published so far regarding epilepsy and the EEG pattern in series of patients with congenital Zika syndrome.

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.

OBJECTIVE: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in SMN1 and with the SMN2 copy number. METHODS: Four hundred fifty Brazilian patients with SMA were included in a retrospective study, and clinical data were analyzed compared with genetic data; the SMN2 copy number was obtained by multiplex ligation-dependent probe amplification and pathogenic variants in SMN1 by next-generation sequencing. RESULTS: Four hundred two patients (89.3%) presented homozygous exon 7-SMN1 deletion, and 48 (10.7%) were compound heterozygous for the common deletion in one allele and a point mutation in the other allele. Recurrent variants in exons 3 and 6 (c.460C>T, c.770_780dup and c.734_735insC) accounted for almost 80% of compound heterozygous patients. Another recurrent pathogenic variant was c.5C>G at exon 1. Patients with c.770_780dup and c.734_735insC had a clinical phenotype correlated with SMN2 copy number, whereas the variants c.460C>T and c.5C>G determined a milder phenotype independently of the SMN2 copies. CONCLUSIONS: Patients with specific pathogenic variants (c.460C>T and c.5C>G) presented a milder phenotype, and the SMN2 copy number did not correlate with disease severity in this group.

RADIOLOGICAL ANALYSIS OF BONE TUNNEL POSITION IN ANTERIOR CRUCIATE LIGAMENT RECONSTRUCTION SURGERY: COMPARISON BETWEEN THE OPEN TECHNIQUE AND ARTHROSCOPY VIA AN ANTEROMEDIAL PORTAL.

OBJECTIVES: To evaluate and compare bone tunnel positioning in anterior cruciate ligament (ACL) reconstruction surgery using the arthroscopic technique and the open technique consisting of arthrotomy. METHOD: A comparative retrospective study on 70 patients with ACL lesions was conducted. Thirty-five patients underwent ACL reconstruction by means of the open technique and 35 by means of the arthroscopic technique using an anteromedial portal. All the patients underwent ACL reconstruction using an autologous graft from the middle third of the patellar tendon, fixed using interference screws. The postoperative radiographs were reviewed and the positioning of the femoral tunnel was evaluated using the methods proposed by Harner et al. and Aglietti et al., while the tibial tunnel was assessed using the method proposed by Rauschning and Stäubli. RESULTS: Fifty-four of the patients were male and 16 were female. Their mean age at the time of the procedure was 34 years and 3 months, with a range from 17 to 58 years. The arthroscopic technique was shown to be more accurate than the open technique for positioning both the femoral and the tibial bone tunnels. CONCLUSIONS: Radiological analysis on the knees subjected to ACL reconstruction showed that the positioning of both the femoral and the tibial bone tunnels presented less variation when the surgery was performed arthroscopically.

Successful nonmyeloablative allogeneic stem cell transplantation for therapy-related acute myelogenous leukemia in a patient with preexisting visceral fungal infection.

Therapy-related acute myelogenous leukemia (t-AML) is a generally fatal disease with a very poor response to conventional chemotherapy. Allogeneic stem cell transplantation (allo-SCT) has been reported in patients with chemotherapy- responsive t-AML. However its use is limited owing to complications from previous treatments. Nonmyeloablative conditioning provides rapid hematologic engraftment and it is a feasible option for patients who are at increased risk for conventional SCT. There are few data on their use in patients with t-AML. We describe the case of a boy who developed visceral fungal infection with liver abscesses after induction chemotherapy for t-AML. He received allo-SCT with a nonmyeloablative regimen, plus amphotericin B during the transplant procedure. The patient is alive and free of both leukemia and fungal infection 2 years after allo-SCT. Nonmyeloablative allo-SCT may provide durable remission in patients with t-AML, preexisting invasive fungal infections, and a high risk of adverse effects from standard chemotherapy and prolonged cytopenia, without resurgence of the fungal infection.

Análise radiológica do posicionamento dos túneis ósseos na cirurgia de reconstrução do ligamento cruzado anterior: comparação entre as técnicas aberta e artroscópica via portal anteromedial / Radiological analysis of bone tunnel position in anterior cruciate ligament reconstruction surgery: comparison between the open technique and arthroscopy via an anteromedial portal

OBJETIVO: Avaliar e comparar o posicionamento dos túneis ósseos na cirurgia de reconstrução do ligamento cruzado anterior (LCA) pela técnica artroscópica e pela técnica aberta através da artrotomia. MÉTODO: Foi realizado um estudo retrospectivo comparativo de 70 pacientes acometidos por lesão do LCA. Trinta e cinco pacientes foram submetidos à reconstrução do LCA por via aberta e 35 por via artroscópica utilizando a técnica via portal anteromedial. Todos os pacientes foram submetidos à reconstrução do LCA usando enxerto autólogo do terço central do tendão patelar fixado com parafusos de interferência. As radiografias pós-operatórias foram revisadas e o posicionamento do túnel femoral foi avaliado pelos métodos propostos por Harner e Aglietti, enquanto o túnel tibial foi avaliado pelo método proposto por Staubli e Rauschning. RESULTADOS: Foram observados 54 pacientes do sexo masculino e 16 do sexo feminino. A média de idade na ocasião do procedimento foi de 34 anos e três meses, variando de 17 a 58 anos. A técnica artroscópica mostrou-se mais precisa que a técnica aberta quanto ao posicionamento dos túneis ósseos, tanto femoral quanto tibial. CONCLUSÃO: Através da análise radiológica dos joelhos submetidos à reconstrução do LCA, observou-se que o posicionamento dos túneis ósseos, tanto femoral quanto tibial, apresenta menor variação quando a cirurgia é feita pela via artroscópica.

OBJECTIVES: To evaluate and compare bone tunnel positioning in anterior cruciate ligament (ACL) reconstruction surgery using the arthroscopic technique and the open technique consisting of arthrotomy. METHOD: A comparative retrospective study on 70 patients with ACL lesions was conducted. Thirty-five patients underwent ACL reconstruction by means of the open technique and 35 by means of the arthroscopic technique using an anteromedial portal. All the patients underwent ACL reconstruction using an autologous graft from the middle third of the patellar tendon, fixed using interference screws. The postoperative radiographs were reviewed and the positioning of the femoral tunnel was evaluated using the methods proposed by Harner and Aglietti, while the tibial tunnel was assessed using the method proposed by Rauschning and Staubli. RESULTS: Fifty-four of the patients were male and 16 were female. Their mean age at the time of the procedure was 34 years and 3 months, with a range from 17 to 58 years. The arthroscopic technique was shown to be more accurate than the open technique for positioning both the femoral and the tibial bone tunnels. CONCLUSIONS: Radiological analysis on the knees subjected to ACL reconstruction showed that the positioning of both the femoral and the tibial bone tunnels presented less variation when the surgery was performed arthroscopically.

Prospective trial of mycophenolate mofetil-cyclosporine A prophylaxis for acute GVHD after G-CSF stimulated allogeneic bone marrow transplantation with HLA-identical sibling donors in patients with severe aplastic anemia and hematological malignancies.

The combination of methotrexate and cyclosporine A (MTX-CSA) is the standard regimen for the prevention of graft vs. host disease (GVHD) after allogeneic hematopoietic stem cell transplantation (allo-SCT) from HLA-identical siblings. Mycophenolate mofetil and CSA (MMF-CSA) combination has been successfully used for GVHD prophylaxis after non-reduced intensity conditioning (non-RIC) allo-SCT with peripheral blood or non-G-CSF stimulated bone marrow as stem cell source. We report the results of the first prospective trial of the MMF-CSA combination for acute GVHD prophylaxis in 47 patients after non-RIC G-CSF stimulated allo-BMT (G-BMT) from HLA-identical siblings in patients with severe aplastic anemia (SAA) or hematological malignancies. Median age was 28 yr (range, 6-48 yr). Median follow-up was 22 months. The median time to neutrophil and platelets recovery were nine d (range, 8-17) and 16 d (range, 10-28), respectively. Acute GVHD of grade II-IV and chronic GVHD occurred in 51% and 27%, respectively. Overall survival rates at two yr for patients with SAA and hematological malignancies were 87% and 65%, respectively. The event-free survival at two yr for patients with hematological malignancies was 76%. We concluded that MMF-CSA appears equivalent to MTX-CSA for GVHD prophylaxis in patients receiving non-RIC G-BMT from HLA-identical siblings, with a tendency for more rapid neutrophil engraftment.