5 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...
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....
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis
Albano,Lilian Maria José; Sakae,Paula Priscila Ohara; Mataloun,Marta Maria Galli Bozzo; Leone,Clea Rodrigues; Bertola,Débora R.; Kim,Chong AeSchinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congeni...
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...
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
Albano,Lilian M. J.; Sugayama,Sofia S. M. M.; Bertola,Débora R.; Andrade,Carlos E. F.; Utagawa,Cláudia Y.; Puppi,Flávia; Nader,Helena B.; Toma,LenyThe mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all pa...