ERIKA ARAI FURUSAWA
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA(2015) HONJO, Rachel Sayuri; DUTRA, Roberta Lelis; FURUSAWA, Erika Arai; ZANARDO, Evelin Aline; COSTA, Larissa Sampaio de Athayde; KULIKOWSKI, Leslie Domenici; BERTOLA, Debora Romeo; KIM, Chong AeWilliams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA). Methods. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Crianca of the Hospital das Clinicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion. Results. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%), neuropsychomotor delay (98.2%), hypersocial behavior (94.5%), hyperacusis (94.5%), and congenital heart disease (81.8%). Conclusions. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.
- Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases(2022) HONJO, Rachel Sayuri; MONTELEONE, Vanessa Figueiredo; AIELLO, Vera Demarchi; WAGENFUHR, Jaqueline; ISSA, Victor Sarli; POMERANTZEFF, Pablo Maria Alberto; FURUSAWA, Erika Arai; ZANARDO, Evelin Aline; KULIKOWSKI, Leslie Domenici; BERTOLA, Debora Romeo; KIM, Chong AeWilliams-Beuren syndrome (WBS) is a rare, microdeletion syndrome characterized by facial dysmorphisms, intellectual disability, a friendly personality, cardiovascular and other abnormalities. Cardiovascular defects (CVD) are among the most prevalent characteristics in WBS, being supravalvular aortic stenosis (SVAS) the most frequent, followed by peripheral pulmonary stenosis (PPS). A comprehensive retrospective review of medical records of 127 patients with molecular diagnosis of WBS, in a period of 20 years, was done to evaluate the incidence, the natural history of cardiovascular disease, and the need for surgical intervention, including heart transplantation (HT). A total of 94/127 patients presented with CVD. Of these 94 patients, 50% presented with SVAS and 22.3% needed heart surgery and/or cardiac catheterization including one that required HT due to severe SVAS-related heart failure at 19 years of age. The patient died in the postoperative period due to infectious complications. Cardiovascular problems are the major cause of sudden death in patients with WBS, who have a significantly higher mortality risk associated with surgical interventions. There is a higher risk for anesthesia-related adverse events and for major adverse cardiac events following surgery. End-stage heart failure due to myocardial ischemia has been described in WBS patients and it is important to consider that HT can become their only viable option. To our knowledge, the case mentioned here is the first HT reported in an adolescent with WBS. HT can be a viable therapeutic option in WBS patients with adequate evaluation, planning, and a multidisciplinary team to provide the required perioperative care and follow-up.
- Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA (vol 2015, 903175, 2015)(2015) HONJO, Rachel Sayuri; DUTRA, Roberta Lelis; FURUSAWA, Erika Arai; ZANARDO, Evelin Aline; COSTA, Larissa Sampaio de Athayde; KULIKOWSKI, Leslie Domenici; BERTOLA, Debora Romeo; KIM, Chong Ae
conferenceObject ABPM in children and adolescents with renovascular hypertension(2016) LEITE, B.; BATISTA, G.; SUZUKI, L.; DRAGER, L.; FURUSAWA, E.; KOCH, V.; WATANABE, A.- Home and Ambulatory Blood Pressure to Identify White Coat and Masked Hypertension in the Pediatric Patient(2011) FURUSAWA, Erika A.; FILHO, Ulysses D.; MION JUNIOR, Decio; KOCH, Vera H.OBJECTIVE To evaluate the effect of the environment and the observer on the measurement of blood pressure (BP) as well as to compare home BP (HBP) and ambulatory BP (ABP) measurements in the diagnosis of white coat hypertension (WCH) and masked hypertension (MH) in children and adolescents with hypertension (HT). METHODS BP of 40 patients with HT (75% of which had secondary HT and were on antihypertensive medication), mean age 12.1 years was evaluated through casual measurements at the clinic and at the HT unit, HBP for 14 days with the OMRON HEM 705 CP monitor (Omron, Tokyo, Japan) and ABP performed with SPACELABS 90207 (Spacelabs, Redmond, WA), for 24 h. RESULTS HT was diagnosed at the doctor's office by ABP and HBP in 30/40, 27/40, and 31/40 patients, respectively. Based on office BP and ABP, 60% of patients were normotensive, 17.5% HT, 7.5% had WCH, and 15% had MH, whereas based on office BP and HBP 65, 12.5, 10, and 12.5% of patients were classified according to these diagnoses, respectively. There was considerable diagnostic agreement of HT by ABP and HBP (McNemar test, P < 0.01) (kappa = 0.56). CONCLUSION In hypertensive children and adolescents, HBP and ABP present comparable results. HBP appears to be a useful diagnostic test for the detection of MH and WCH in pediatric patients.
- Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome(2018) FURUSAWA, Erika Arai; ESPOSITO, Camila Sanches Lanetzki; HONJO, Rachel Sayuri; SUZUKI, Lisa; LEAL, Gabriela Nunes; KIM, Chong Ae; SCHVARTSMAN, Benito Galassi SoaresAIM: To describe the incidence, diagnosis, and management of systemic arterial hypertension related to renal artery stenosis in patients with Williams-Beuren syndrome. METHODS: Sixty-five patients with Williams-Beuren syndrome were evaluated for hypertension. Enrolled patients underwent Doppler sonography of the renal arteries and Doppler echocardiography. Those with Doppler sonography-detected lesions or with normal Doppler sonography but severe hypertension underwent computed tomography or gadolinium-enhanced magnetic resonance angiography of the aorta and renal vessels. Patients needing vascular therapeutic intervention underwent conventional angiography. RESULTS: Systemic arterial hypertension was diagnosed in 21/65 patients with Williams-Beuren syndrome (32%; 13 male) with a mean age of 13.9 years (5mo-20yrs). In 8/21 patients renovascular hypertension was detected. Angioplasty was unsuccessful in five patients with renal artery stenosis, requiring additional treatment. Doppler echocardiography showed cardiac abnormalities in 16/21 (76%) hypertensive patients. CONCLUSION: Cardiac abnormalities and hypertension in patients with Williams-Beuren syndrome are common. Thus, thorough evaluation and follow-up are necessary to reduce cardiovascular risks and mortality of these patients.
- Uso do eculizumab na síndrome hemolítica urêmica atípica: relato de caso e revisão da literatura(2013) VAISBICH, Maria Helena; HENRIQUES, Luciana dos Santos; WATANABE, Andréia; PEREIRA, Lilian Monteiro; METRAN, Camila Cardoso; MALHEIROS, Denise Avancini; MODANEZ, Flávia; SILVA, João Domingos Montoni da; VIEIRA, Simone; MACEDO, Ana Catarina Lunz; MASSAROPE, Bianca; FURUSAWA, Érika Arai; SCHVARTSMAN, Benita Galassi SoaresSHU atypical (aHUS), that is, not associated with Escherichia coli Shiga toxinproducing, is seen in 5 to 10% of cases of Hemolytic Uremic Syndrome (HUS), and can occur at any age and may be sporadic or familial. The prognosis in these cases is reserved, with high mortality and morbidity in the acute phase of the disease, and about 50% of cases can develop chronic kidney disease. The increased knowledge of the pathogenesis of aHUS (overactivation of the alternative pathway of complement), was accompanied by the appearance of a drug, eculizumab, which acts as an inhibitor of membrane attack complex. Our goal is to report a case of infant with aHUS with excellent clinical and laboratory response with the use of eculizumab. 14 month old infant, previously healthy, male, presented anemia and thrombocytopenia at 12 months of age. He was treated with corticosteroids and forwarded to our service for high blood pressure. However, the scans showed nephrotic proteinuria with renal involvement and hypoalbuminemia with direct Coombs negative. He developed anemia, thrombocytopenia, worsening of renal function and hypertension. Renal biopsy showed thrombotic microangiopathy (TMA). On the non-hemolytic anemia, thrombocytopenia and acute renal failure with histological substrate MAT, was diagnosed of aHUS. The patient received eculizumab excellent clinical and laboratory response. This case shows the importance of early diagnosis and treatment of the aHUS. Eculizumab is effective and keeps long-term remission, avoiding invasive measures such as plasmapheresis, which resolves only part of the picture.
- Pediatric hypertension as an early manifestation of cardiovascular disease in children(2024) KOCH, Vera Hermina Kalika; FURUSAWA, Erika AraiIn adults, cardiovascular events associated with arterial hypertension (AH) have a major impact on morbidity and mortality. In light of recent findings, AH in children has been interpreted as early cardiovascular disease (CVD), while exposure to CV risk factors in children proves to be a predictor of subclinical CVD in adults. The American College of Cardiology/American Heart Association has recently updated the classifications for measuring blood pressure (BP) in adults and children. Primary AH in children is generally asymptomatic, and it is associated with a family history of AH, overweight/obesity, and normal morphofunctional characteristics of the urinary system. The younger the child and the higher the BP, the greater the likelihood of secondary AH. The investigation into the etiology of AH begins with a detailed anamnesis, which should include clinical information and details on the use of medication, smoking, and alcohol consumption from the perinatal period to the time of consultation. Modifying risk factors by reducing weight, decreasing alcohol consumption and increasing vegetable intake from childhood to adulthood has been associated with the resolution of AH in the childhoodadulthood transition, and with the reversal of cardiometabolic adverse effects in non-obese adult individuals. Pharmacological therapy should be initiated in cases of symptomatic AH, AH secondary to chronic kidney disease or diabetes mellitus, presence of target organ lesions, stage 2 AH with no modifiable cause and resistant AH unresponsive to lifestyle changes.