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Article ; Online: A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.

Dangoni, Gustavo Dib / Teixeira, Anne Caroline Barbosa / Aguiar, Talita Ferreira / Sugayama, Sofia Mizuho Miura / Filho, Vicente Odone / Bertola, Débora Romeo / Krepischi, Ana Cristina Victorino

Pediatric blood & cancer

2023 Volume 70, Issue 7, Page(s) e30311

MeSH term(s)	Humans ; Child ; Hepatoblastoma/genetics ; Mutation ; Liver Neoplasms/genetics ; Abnormalities, Multiple ; Jagged-1 Protein/genetics
Chemical Substances	JAG1 protein, human ; Jagged-1 Protein
Language	English
Publishing date	2023-03-25
Publishing country	United States
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.30311
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Article ; Online: Natural history of 39 patients with Achondroplasia.

Ceroni, Jose Ricardo Magliocco / Soares, Diogo Cordeiro de Queiroz / Testai, Larissa de Cássia / Kawahira, Rachel Sayuri Honjo / Yamamoto, Guilherme Lopes / Sugayama, Sofia Mizuho Miura / Oliveira, Luiz Antonio Nunes de / Bertola, Debora Romeo / Kim, Chong Ae

Clinics (Sao Paulo, Brazil)

2018 Volume 73, Page(s) e324

Abstract: Objectives: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.: Methods: Observational and retrospective study of 39 patients who were attended at a public tertiary level ... ...

Abstract	Objectives: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. Methods: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. Results: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). Conclusions: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.
MeSH term(s)	Achondroplasia/diagnosis ; Achondroplasia/genetics ; Achondroplasia/pathology ; Adult ; Age Factors ; Aged ; Female ; Follow-Up Studies ; Humans ; Infant, Newborn ; Male ; Middle Aged ; Molecular Diagnostic Techniques ; Mutation ; Radiography ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Retrospective Studies ; Young Adult
Chemical Substances	Receptor, Fibroblast Growth Factor, Type 3 (EC 2.7.10.1)
Language	English
Publishing date	2018-07-02
Publishing country	United States
Document type	Journal Article ; Observational Study
ZDB-ID	2182801-5
ISSN	1980-5322 ; 1807-5932
ISSN (online)	1980-5322
ISSN	1807-5932
DOI	10.6061/clinics/2018/e324
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Article ; Online: Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

Homma, Thais Kataoka / Freire, Bruna Lucheze / Honjo Kawahira, Rachel Sayuri / Dauber, Andrew / Funari, Mariana Ferreira de Assis / Lerario, Antônio Marcondes / Nishi, Mirian Yumie / Albuquerque, Edoarda Vasco de / Vasques, Gabriela de Andrade / Collett-Solberg, Paulo Ferrez / Miura Sugayama, Sofia Mizuho / Bertola, Debora Romeo / Kim, Chong Ae / Arnhold, Ivo Jorge Prado / Malaquias, Alexsandra Christianne / Jorge, Alexander Augusto de Lima

The Journal of pediatrics

2019 Volume 215, Page(s) 192–198

Abstract: Objective: To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause.: Study design: For whole exome sequencing analysis, we ... ...

Abstract	Objective: To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design: For whole exome sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology. Results: Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair. Conclusions: The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature.
MeSH term(s)	Abnormalities, Multiple/genetics ; Actins/genetics ; Adenosine Triphosphatases/genetics ; Cell Cycle Proteins/genetics ; Child ; Cyclin-Dependent Kinase Inhibitor p57/genetics ; Cytoskeletal Proteins/genetics ; DNA-Binding Proteins/genetics ; Dwarfism/genetics ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Infant, Small for Gestational Age ; Kinesin/genetics ; Male ; Mutation ; Myeloid-Lymphoid Leukemia Protein/genetics ; Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases/genetics ; Prospective Studies ; Repressor Proteins/genetics ; Transcriptional Elongation Factors/genetics ; Tumor Suppressor Proteins/genetics ; Ubiquitin-Protein Ligases/genetics ; Whole Exome Sequencing
Chemical Substances	ACTG1 protein, human ; AFF4 protein, human ; ANKRD11 protein, human ; Actins ; BCL11B protein, human ; CDKN1C protein, human ; Cell Cycle Proteins ; Cyclin-Dependent Kinase Inhibitor p57 ; Cytoskeletal Proteins ; DNA-Binding Proteins ; GINS1 protein, human ; KIF11 protein, human ; KMT2A protein, human ; POC1A protein, human ; Repressor Proteins ; Transcriptional Elongation Factors ; Tumor Suppressor Proteins ; Myeloid-Lymphoid Leukemia Protein (149025-06-9) ; Histone-Lysine N-Methyltransferase (EC 2.1.1.43) ; BRAP protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; INPPL1 protein, human (EC 3.1.3.86) ; Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases (EC 3.1.3.86) ; Adenosine Triphosphatases (EC 3.6.1.-) ; SRCAP protein, human (EC 3.6.4.-) ; Kinesin (EC 3.6.4.4)
Language	English
Publishing date	2019-10-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2019.08.024
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Article ; Online: Natural history of 39 patients with Achondroplasia

Jose Ricardo Magliocco Ceroni / Diogo Cordeiro de Queiroz Soares / Larissa de Cássia Testai / Rachel Sayuri Honjo Kawahira / Guilherme Lopes Yamamoto / Sofia Mizuho Miura Sugayama / Luiz Antonio Nunes de Oliveira / Debora Romeo Bertola / Chong Ae Kim

Clinics, Vol 73, Iss

2018

Abstract: OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level ... ...

Abstract	OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.
Keywords	Achondroplasia ; Natural History ; Growth ; FGFR3 ; Medicine (General) ; R5-920
Subject code	610 ; 616
Language	English
Publishing date	2018-07-01T00:00:00Z
Publisher	Elsevier España
Document type	Article ; Online
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Article: Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).

Sugayama, Sofia Mizuho Miura / Koch, Vera Hermina Kalika / Furusawa, Erica Arai / Leone, Cláudio / Kim, Chong Ae

Revista do Hospital das Clinicas

2004 Volume 59, Issue 5, Page(s) 266–272

Abstract: Purpose: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract ... ...

Abstract	Purpose: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. Methods: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. Results: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. Conclusions: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended.
MeSH term(s)	Child ; Child, Preschool ; Female ; Humans ; Hypertension/diagnosis ; In Situ Hybridization, Fluorescence ; Infant ; Kidney/abnormalities ; Kidney Diseases/diagnosis ; Male ; Prospective Studies ; Urinary Tract/abnormalities ; Williams Syndrome/complications ; Williams Syndrome/diagnosis
Language	English
Publishing date	2004-10-29
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	603326-x
ISSN	1678-9903 ; 0041-8781 ; 0556-6479
ISSN (online)	1678-9903
ISSN	0041-8781 ; 0556-6479
DOI	10.1590/s0041-87812004000500008
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Article ; Online: Williams Syndrome

Sofia Mizuho Miura Sugayama / Cláudio Leone / Maria de Lourdes Lopes Ferrari Chauffaille / Thelma Suely Okay / Chong Ae Kim

Clinics, Vol 62, Iss 2, Pp 159-

development of a new scoring system for clinical diagnosis Síndrome de Williams: proposta de sistema de pontuação para diagnóstico clínico

2007 Volume 166

Abstract: OBJECTIVE: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. METHODS: ...

Abstract	OBJECTIVE: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. METHODS: The fluorescent in-situ hybridization test was performed on 20 patients presenting William syndrome suggestive clinical features. Eleven studies were selected from the literature in which there were 2 groups: patients with positive or negative fluorescent in-situ hybridization tests. Forty-two clinical characteristics were compared to those reported in the literature to determine which ones were associated with the affected patients (ie, bearing deletions) using meta-analysis. The 2-tailed Fisher exact test were used so that the frequency of findings observed in fluorescent in-situ hybridization positive and fluorescent in-situ hybridization negative patients could be compared in the present study together with the patients from the literature. We developed a scoring system based on clinical findings and their significant associations with patients with positive fluorescent in-situ hybridization tests. From themean and standard-deviation values of the data from our patients, we determined the cut-off score that that indicated the need for a fluorescent in-situ hybridization test to confirm diagnosis. RESULTS: Seventeen patients were fluorescent in-situ hybridization positive, and 3 were fluorescent in-situ hybridization negative. The more discriminative findings among fluorescent in-situ hybridization positive patients were the following: typical facies, low birth weight, feeding difficulties, constipation, supravalvar aortic stenosis, mental retardation, and friendly personality. The distribution of the points among the 20 patients ranged from 19 to 28 points with a mean value of 23.3 out of a possible total of 31 points. The cut-off score that indicated the need for a fluorescent in-situ hybridization test was 20. CONCLUSIONS: Our scoring system enables ...
Keywords	Síndrome de Williams-Beuren ; Cromossomos humanos par 7 ; Hibridização in situ ; Gene da elastina ; Williams syndrome ; Chromosome 7 ; In-situ hybridization ; Elastin gene ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2007-01-01T00:00:00Z
Publisher	Elsevier España
Document type	Article ; Online
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Article: Williams Syndrome: development of a new scoring system for clinical diagnosis.

Sugayama, Sofia Mizuho Miura / Leone, Cláudio / Chauffaille, Maria de Lourdes Lopes Ferrari / Okay, Thelma Suely / Kim, Chong Ae

Clinics (Sao Paulo, Brazil)

2006 Volume 62, Issue 2, Page(s) 159–166

Abstract: Objective: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed.: ... ...

Abstract	Objective: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. Methods: The fluorescent in-situ hybridization test was performed on 20 patients presenting William syndrome suggestive clinical features. Eleven studies were selected from the literature in which there were 2 groups: patients with positive or negative fluorescent in-situ hybridization tests. Forty-two clinical characteristics were compared to those reported in the literature to determine which ones were associated with the affected patients (ie, bearing deletions) using meta-analysis. The 2-tailed Fisher exact test were used so that the frequency of findings observed in fluorescent in-situ hybridization positive and fluorescent in-situ hybridization negative patients could be compared in the present study together with the patients from the literature. We developed a scoring system based on clinical findings and their significant associations with patients with positive fluorescent in-situ hybridization tests. From the mean and standard-deviation values of the data from our patients, we determined the cut-off score that that indicated the need for a fluorescent in-situ hybridization test to confirm diagnosis. Results: Seventeen patients were fluorescent in-situ hybridization positive, and 3 were fluorescent in-situ hybridization negative. The more discriminative findings among fluorescent in-situ hybridization positive patients were the following: typical facies, low birth weight, feeding difficulties, constipation, supravalvar aortic stenosis, mental retardation, and friendly personality. The distribution of the points among the 20 patients ranged from 19 to 28 points with a mean value of 23.3 out of a possible total of 31 points. The cut-off score that indicated the need for a fluorescent in-situ hybridization test was 20. Conclusions: Our scoring system enables physicians to differentiate between those individuals who can be reliably diagnosed as having Williams syndrome solely from the clinical findings and those who need to undergo fluorescent in-situ hybridization testing for a correct diagnosis.
MeSH term(s)	Chromosomes, Human, Pair 7/genetics ; Elastic Tissue ; Elastin/genetics ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence/methods ; Karyotyping ; Male ; Phenotype ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics
Chemical Substances	Elastin (9007-58-3)
Language	English
Publishing date	2006-06-30
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Review
ZDB-ID	2182801-5
ISSN	1807-5932
ISSN	1807-5932
DOI	10.1590/s1807-59322007000200011
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Article ; Online: Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH) Achados renais e urinários em 20 pacientes com síndrome de Williams-Beuren diagnosticados pelo teste de hibridização in situ por fluoresceína (FISH)

Sofia Mizuho Miura Sugayama / Vera Hermina Kalika Koch / Érica Arai Furusawa / Cláudio Leone / Chong Ae Kim

Revista do Hospital das Clínicas, Vol 59, Iss 5, Pp 266-

2004 Volume 272

Abstract: PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract ... ...

Abstract	PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended. OBJETIVO: A síndrome de Williams-Beuren é uma rara síndrome de deleção de genes contíguos que cursa com múltiplas anomalias congênitas, deficiência mental e anomalias renais e urinárias. O objetivo deste trabalho foi determinar a freqüência e os tipos de anomalias renais e urinárias em 20 pacientes com síndrome de Williams-Beuren diagnosticados pelo teste de hibridização in situ por fluorescência. MÉTODOS: Estudou-se prospectivamente os aspectos renais e urinários através de avaliação laboratorial da função renal, ultrassonografia de rins e vias urinárias, uretrocistografia miccional e estudo urodinâmico. O teste da hibridização in situ por fluorescência com a sonda LSI Williams Region foi feito nos 20 pacientes com síndrome de Williams-Beuren para a confirmação do diagnóstico. RESULTADOS E DISCUSSÃO: A deleção do gene da elastina (teste de hibridização in situ por fluorescência positivo) foi detectado em 17/20 afetados (85%). As alterações renais foram diagnosticadas em 5/17 (29%) dos pacientes com a deleção e em 1/3 dos indivíduos sem a deleção. Catorze pacientes com a deleção apresentavam disfunções miccionais. A hipertensão arterial foi diagnosticada em três pacientes com a deleção e um deles apresentava estenose bilateral das artérias renais. CONCLUSÕES: Devido à elevada incidência de anormalidades renais e do trato urinário na síndrome de Williams-Beuren, recomenda-se realizar uma avaliação laboratorial e de imagem sistematizada nos pacientes.
Keywords	Síndrome de Williams-Beuren ; Hibridização in situ por fluoresceína ; Elastina ; Anormalidades renais ; Disfunção vesical ; Williams-Beuren syndrome ; Fluorescence in situ hybridization ; Elastin ; Renal abnormalities ; Voiding dysfunction ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2004-01-01T00:00:00Z
Publisher	Universidade de São Paulo - FM/USP
Document type	Article ; Online
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Article: Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.

Albano, Lilian Maria José / Nishioka, Silvana Angelina Dório / Moysés, Regina Lucia / Wagenführ, Jaqueline / Bertola, Débora / Sugayama, Sofia Mizuho Miura / Chong, A Kim

Arquivos brasileiros de cardiologia

2002 Volume 78, Issue 5, Page(s) 444–451

Abstract: Objective: Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide ... ...

Abstract	Objective: Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide repeats that results in the disease). Methods: Clinical and cardiac study including electrocardiogram and echocardiogram of all patients and molecular analysis to detect the frequency and the size of GAA expansion, by polymerase chain reaction analysis. Results: Homozygous GAA expansion was detected in 17 patients (68%) - all typical cases. In 8 (32%) cases (6 atypical and 2 typical), no GAA expansion was observed, therefore it was not considered Friedreich's ataxia. All patients with GAA expansion (100%) had electrocardiographic abnormalities, and only 25% of the cases without GAA expansion had some abnormality on this exam. However, only 6% of all patients revealed some signals/symptoms suggestive of cardiac involvement. Conclusion: A molecular analysis is essential to confirm the diagnosis of Friedreich's ataxia; however, an adequate cardiac evaluation, including an electrocardiogram, was extremely useful to better screening the patients which should perform these molecular analysis.
MeSH term(s)	Adaptor Proteins, Signal Transducing ; Adolescent ; Cardiomyopathy, Hypertrophic/genetics ; Child ; Child, Preschool ; Electrocardiography ; Friedreich Ataxia/diagnosis ; Friedreich Ataxia/genetics ; Humans ; Mutation ; Nerve Tissue Proteins/genetics ; Prospective Studies ; Trinucleotide Repeat Expansion
Chemical Substances	APBA1 protein, human ; Adaptor Proteins, Signal Transducing ; Nerve Tissue Proteins
Language	Portuguese
Publishing date	2002-06-03
Publishing country	Brazil
Document type	Journal Article ; Review
ZDB-ID	730261-7
ISSN	0066-782X
ISSN	0066-782X
DOI	10.1590/s0066-782x2002000500002
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Article: Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization.

Sugayama, Sofia Mizuho Miura / Moisés, Regina Lúcia / Wagënfur, Jaqueline / Ikari, Nana Miura / Abe, Kikue Terada / Leone, Cláudio / da Silva, Clóvis Artur Almeida / Lopes Ferrari Chauffaille, Maria de Lourdes / Kim, Chong Ae

Arquivos brasileiros de cardiologia

2003 Volume 81, Issue 5, Page(s) 462–473

Abstract: Objective: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome.: Methods: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with ... ...

Abstract	Objective: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome. Methods: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography. Fluorescence in situ hybridization (FISH) was used to confirm the diagnosis of the syndrome. Results: Elastin gene locus microdeletion was detected in 17 patients (85%) (positive FISH), and in 3 patients deletion was not detected (negative FISH). Sixteen patients with a positive FISH (94%) had congenital cardiovascular disease (mean age at diagnosis: 2,3 years old). We observed isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16). Four patients with severe supravalvular aortic stenosis underwent surgery (mean age: 5.7 years old), and 2 patients had normal pressure gradients (mean follow-up: 8.4 years). Conclusion: A detailed cardiac evaluation must be performed in all patients with Williams-Beuren syndrome due to the high frequency of cardiovascular abnormalities.
MeSH term(s)	Child ; Child, Preschool ; Female ; Follow-Up Studies ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/etiology ; Heart Defects, Congenital/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Prospective Studies ; Retrospective Studies ; Williams Syndrome/complications ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics
Language	Portuguese
Publishing date	2003-12-01
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	730261-7
ISSN	0066-782X
ISSN	0066-782X
DOI	10.1590/s0066-782x2003001300003
Database	MEDical Literature Analysis and Retrieval System OnLINE

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