6 documents found, page 1 of 1
Targeted massively parallel sequencing for congenital generalized lipodystrophy
Costa-Riquetto,Aline D.; Santana,Lucas S.; Caetano,Lílian A.; Lerário,Antônio M.; Correia-Deur,Joya E. M.; Bertola,Débora R.; Kim,Chong A.; Nery,MárciaABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated...
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 ...
Poloni,Soraia; Hoss,Giovana W.; Sperb-Ludwig,Fernanda; Borsatto,Taciane; Doriqui,Maria Juliana R.; Leão,Emília K.E.A; Boa-Sorte,Ney; Lourenço,Charles M.Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the...
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450...
Bonamichi,Beatriz D. S. F.; Santiago,Stella L. M.; Bertola,Débora R.; Kim,Chong A.; Alonso,Nivaldo; Mendonca,Berenice B.; Bachega,Tania A. S. S.SUMMARY P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity....
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Del...
Grassi,Marcília S.; Jacob,Cristina M. A.; Kulikowski,Leslie D.; Pastorino,Antonio C.; Dutra,Roberta L.; Miura,Nana; Jatene,Marcelo B.Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and...
Infantile autism and 47,XYY karyotype
Kuczynski,Evelyn; Bertola,Débora Romeo; Castro,Cláudia Irene Emílio de; Koiffmann,Célia Priszkulnik; Kim,Chong A.
Hematological findings in Noonan syndrome
Bertola,Débora R.; Carneiro,Jorge David A.; D'Amico,Élbio Antônio; Kim,Chong A.; Albano,Lilian Maria José; Sugayama,Sofia M.M.; Gonzalez,Claudette H.OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin ti...