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  1. Artikel ; Online: PDGFRA, KIT, and KDR Gene Amplification in Glioblastoma: Heterogeneity and Clinical Significance.

    Carlotto, Bianca Soares / Trevisan, Patricia / Provenzi, Valentina Oliveira / Soares, Fabiano Pasqualotto / Rosa, Rafael Fabiano Machado / Varella-Garcia, Marileila / Zen, Paulo Ricardo Gazzola

    Neuromolecular medicine

    2023  Band 25, Heft 3, Seite(n) 441–450

    Abstract: Glioblastoma (GBM) is the most frequent tumor of the central nervous system, and its heterogeneity is a challenge in treatment. This study examined tumoral heterogeneity involving PDGFRA, KIT, and KDR gene amplification (GA) in 4q12 and its association ... ...

    Abstract Glioblastoma (GBM) is the most frequent tumor of the central nervous system, and its heterogeneity is a challenge in treatment. This study examined tumoral heterogeneity involving PDGFRA, KIT, and KDR gene amplification (GA) in 4q12 and its association with clinical parameters. Specimens from 22 GBM cases with GA for the 4q12 amplicon detected by FISH were investigated for homogeneous or heterogeneous coamplification patterns, diffuse or focal distribution of cells harboring GA throughout tumor sections, and pattern of clustering of fluorescence signals. Sixteen cases had homogenously amplification for all three genes (45.5%), for PDGFRA and KDR (22.7%), or only for PDGFRA (4.6%); six cases had heterogeneous GA patterns, with subpopulations including GA for all three genes and for two genes - PDGFRA and KDR (13.6%), or GA for all three and for only one gene - PDGFRA (9.1%) or KIT (4.6%). In 6 tumors (27.3%), GA was observed in focal tumor areas, while in the remaining 16 tumors (72.7%) it was diffusely distributed throughout the pathological specimen. Amplification was universally expressed as double minutes and homogenously stained regions. Coamplification of all three genes PDGFRA, KIT, and KDR, age ≥ 60 years, and total tumor resection were statistically associated with poor prognosis. FISH proved effective for detailed interpretation of molecular heterogeneity. The study uncovered an even more diverse range of amplification patterns involving the 4q12 oncogenes in GBM than previously described, thus highlighting a complex tumoral heterogeneity to be considered when devising more effective therapies.
    Mesh-Begriff(e) Humans ; Middle Aged ; Central Nervous System ; Chromosome Aberrations ; Clinical Relevance ; Gene Amplification ; Glioblastoma/genetics ; Receptor Protein-Tyrosine Kinases ; Vascular Endothelial Growth Factor Receptor-2/genetics ; Receptor, Platelet-Derived Growth Factor alpha/metabolism
    Chemische Substanzen KDR protein, human (EC 2.7.10.1) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; Vascular Endothelial Growth Factor Receptor-2 (EC 2.7.10.1) ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1) ; KIT protein, human (EC 2.7.10.1)
    Sprache Englisch
    Erscheinungsdatum 2023-08-23
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2077809-0
    ISSN 1559-1174 ; 1535-1084
    ISSN (online) 1559-1174
    ISSN 1535-1084
    DOI 10.1007/s12017-023-08749-y
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Patients' prognosis with congenital heart disease followed by ten years: survival and associated factors.

    Silveira, Daniélle Bernardi / Batisti, Rodrigo da Silva / Marchezi, Liana Vitória / Rocha, Beatriz Felipe da / Rosa, Ernani Bohrer da / Correia, Jamile Dutra / Silva, Leonardo Leiria de Moura da / Rosa, Rafael Fabiano Machado / Zen, Paulo Ricardo Gazzola

    Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

    2024  Band 42, Seite(n) e2023134

    Abstract: Objective: To evaluate the prognosis and influence of associated factors in patients with congenital heart disease admitted for the first time to the Intensive Care Unit of the Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de ...

    Abstract Objective: To evaluate the prognosis and influence of associated factors in patients with congenital heart disease admitted for the first time to the Intensive Care Unit of the Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, especially those factors associated with death.
    Methods: Patients were prospectively and consecutively allocated over a period of one year (August 2005 to July 2006). Now, 15 years after the initial selection, we collected data from these patients in the database of the Cytogenetics Laboratory of the Universidade Federal de Ciências da Saúde de Porto Alegre and in the medical records of the hospital.
    Results: Of the 96 patients, 11 died and 85 were alive until 20 years old. Four patients died in the Intensive Care Unit. The survival probability up to 365 days of life was 95.8%. The survival assessment identified that the deaths occurred mainly before the patients completed one thousand days of life. We found that complex heart disease was independently associated with an odds ratio of 5.19 (95% confidence interval - CI:1.09-24.71; p=0.038) for death.
    Conclusions: Knowledge about the factors that interfere with the prognosis can be crucial in care practice planning, especially considering that congenital heart disease is an important cause of mortality in the first year of life.
    Mesh-Begriff(e) Humans ; Young Adult ; Adult ; Prognosis ; Hospitalization ; Hospitals ; Odds Ratio ; Heart Defects, Congenital/diagnosis
    Sprache Englisch
    Erscheinungsdatum 2024-02-12
    Erscheinungsland Brazil
    Dokumenttyp Journal Article
    ZDB-ID 2560228-7
    ISSN 1984-0462 ; 1984-0462
    ISSN (online) 1984-0462
    ISSN 1984-0462
    DOI 10.1590/1984-0462/2024/42/2023134
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Alcohol consumption during pregnancy by women from southern Brazil: a cross-sectional study.

    Zottis, Laira Francielle Ferreira / Souza, Mateus Arenhardt de / Hartmann, Jéssica Karine / Gama, Thiago Kenji Kurogi / Rizental, Laís Borges / Maciel, Anita Machado / Gresele, Merialine / Rosa, Ernani Bohrer da / Nunes, Maurício Rouvel / Rocha, Juliana Trevisan da / Telles, Jorge Alberto Bianchi / Cunha, André Campos da / Zen, Paulo Ricardo Gazzola / Rosa, Rafael Fabiano Machado

    Sao Paulo medical journal = Revista paulista de medicina

    2024  Band 142, Heft 5, Seite(n) e2023186

    Abstract: Background: Some maternal characteristics are related to alcohol intake during pregnancy, which irreversibly compromises the maternal-fetal binomial integrity.: Objectives: To identify the frequency, impact, and factors associated with alcohol ... ...

    Abstract Background: Some maternal characteristics are related to alcohol intake during pregnancy, which irreversibly compromises the maternal-fetal binomial integrity.
    Objectives: To identify the frequency, impact, and factors associated with alcohol consumption during pregnancy.
    Design and setting: A cross-sectional study was performed at the Hospital Materno Infantil Presidente Vargas (HMIPV) in Porto Alegre/RS between March and December 2016.
    Methods: A structured questionnaire was administered along with a medical records review. They refer to the maternal sociodemographic and gestational status, alcohol consumption patterns, and characteristics of the fetus/newborn. In the statistical analysis, P values < 0.05 were considered significant.
    Results: The frequency of alcohol intake was 37.3%; this was characterized by the consumption of fermented beverages (89.3%), especially during the first trimester (79.6%). Risky consumption (high and/or early) occurred for 30.2% of participants. Risk factors associated with maternal alcohol consumption during pregnancy were tobacco use (P < 0.001) and abortion attempt (P = 0.023). Living with a partner (P = 0.002) and planning pregnancy (P = 0.009) were protective factors. Risky consumption was related to all of the aforementioned variables as well as threatened abortion (P = 0.023).
    Conclusions: Alcohol intake during pregnancy is common and affects nearly one-third of pregnant women. Knowledge of the population at risk and protective factors is essential for the development of campaigns that seek to reduce consumption and, therefore, its consequences for the mother and fetus.
    Mesh-Begriff(e) Humans ; Female ; Pregnancy ; Alcohol Drinking/epidemiology ; Alcohol Drinking/adverse effects ; Cross-Sectional Studies ; Brazil/epidemiology ; Adult ; Young Adult ; Risk Factors ; Socioeconomic Factors ; Surveys and Questionnaires ; Adolescent ; Sociodemographic Factors
    Sprache Englisch
    Erscheinungsdatum 2024-04-22
    Erscheinungsland Brazil
    Dokumenttyp Journal Article
    ZDB-ID 1203171-9
    ISSN 1806-9460 ; 1516-3180 ; 0035-0362
    ISSN (online) 1806-9460
    ISSN 1516-3180 ; 0035-0362
    DOI 10.1590/1516-3180.2023.0186.R1.08022024
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

    Besson, Marina da Rocha / Taiarol, Mateus Dos Santos / Fernandes, Eliaquim Beck / Ghiorzi, Isadora Bueloni / Nunes, Maurício Rouvel / Zen, Paulo Ricardo Gazzola / Rosa, Rafael Fabiano Machado

    Sao Paulo medical journal = Revista paulista de medicina

    2023  Band 141, Heft 5, Seite(n) e2022426

    Abstract: Background: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce.: Objectives: To evaluate the frequency and types of CAs detected by karyotyping in patients ... ...

    Abstract Background: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce.
    Objectives: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA.
    Design and setting: This retrospective study was performed in a reference clinical genetic service in South Brazil.
    Methods: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant.
    Results: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025).
    Conclusions: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.
    Mesh-Begriff(e) Female ; Humans ; Retrospective Studies ; Amenorrhea/genetics ; Chromosome Aberrations ; Karyotyping
    Sprache Englisch
    Erscheinungsdatum 2023-04-07
    Erscheinungsland Brazil
    Dokumenttyp Journal Article
    ZDB-ID 1203171-9
    ISSN 1806-9460 ; 1516-3180 ; 0035-0362
    ISSN (online) 1806-9460
    ISSN 1516-3180 ; 0035-0362
    DOI 10.1590/1516-3180.2022.0426.R1.14012023
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea

    Marina da Rocha Besson / Mateus dos Santos Taiarol / Eliaquim Beck Fernandes / Isadora Bueloni Ghiorzi / Maurício Rouvel Nunes / Paulo Ricardo Gazzola Zen / Rafael Fabiano Machado Rosa

    São Paulo Medical Journal, Vol 141, Iss

    a retrospective study

    2023  Band 5

    Abstract: ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in ... ...

    Abstract ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher’s bicaudate exact test and Student’s t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.
    Schlagwörter Amenorrhea ; Menopause ; premature ; Primary ovarian insufficiency ; Abnormal karyotype ; Chromosomes ; human ; x ; Secondary amenorrhea ; Karyotype ; Chromosomal abnormalities ; Short stature ; Medicine ; R
    Thema/Rubrik (Code) 610 ; 616
    Sprache Englisch
    Erscheinungsdatum 2023-04-01T00:00:00Z
    Verlag Associação Paulista de Medicina
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case-control study.

    da Rosa, Ernani Bohrer / Correia, Jamile Dutra / Silveira, Daniélle Bernardi / Nunes, Mauricio Rouvel / Gresele, Merialine / Dallagnol, Miriam Elisa / Ziliotto, Marieli Barp / Rosa, Rafael Fabiano Machado / Zen, Paulo Ricardo Gazzola

    Birth defects research

    2023  Band 116, Heft 1, Seite(n) e2289

    Abstract: Background: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can ... ...

    Abstract Background: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM.
    Methods: This is a case-control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers' data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each case. Data analysis was performed using the two-tailed Fisher's exact test, Pearson's chi-square test, and the t-test.
    Results: We identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p = .001), maternal diabetes (p = .009), advanced maternal age (p = .035), and a history of vaginal bleeding (p < .001). Furthermore, these patients exhibited a tendency to be born prematurely (p = .027), with low birth weight (p = .007), and lower Apgar scores (p = .003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p = .003) and vaginal bleeding (p = .032) remained independently associated with craniofacial microsomia.
    Conclusions: We have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases.
    Mesh-Begriff(e) Infant ; Child ; Humans ; Pregnancy ; Female ; Case-Control Studies ; Goldenhar Syndrome/epidemiology ; Risk Factors ; Diabetes, Gestational ; Uterine Hemorrhage
    Sprache Englisch
    Erscheinungsdatum 2023-12-21
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2104792-3
    ISSN 2472-1727
    ISSN (online) 2472-1727
    DOI 10.1002/bdr2.2289
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.

    Diniz, Bruna Lixinski / Deconte, Desirée / Gadelha, Kerolainy Alves / Glaeser, Andressa Barreto / Guaraná, Bruna Baierle / de Moura, Andreza Ávila / Rosa, Rafael Fabiano Machado / Zen, Paulo Ricardo Gazzola

    Journal of pediatric genetics

    2023  Band 12, Heft 2, Seite(n) 113–122

    Abstract: Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigation, ... ...

    Abstract Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigation, especially in individuals with a mild phenotype. Nowadays, different cytogenetic methodologies have emerged and are used routinely in research laboratories. Hence, choosing an efficient technology and providing an accurate interpretation of clinical findings is crucial for 22q11.2DS patient's diagnosis. This systematic review provides an update of the last 20 years of research on 22q11.2DS patients with CHD and the investigation process behind each diagnosis. A search was performed in PubMed, Embase, and LILACS using all entry terms to DiGeorge syndrome, CHDs, and cytogenetic analysis. After screening, 60 papers were eligible for review. We present a new insight of ventricular septal defect as a possible pivotal cardiac finding in individuals with 22q11.2DS. Also, we describe molecular technologies and cardiac evaluation as valuable tools in order to guide researchers in future investigations.
    Sprache Englisch
    Erscheinungsdatum 2023-02-17
    Erscheinungsland Germany
    Dokumenttyp Journal Article ; Review
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.1055/s-0043-1763258
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: Diagnósticos de enfermagem na síndrome de Turner

    Maurício Rouvel Nunes / Simone Travi Canabarro / Ana Paula Vanz / Rafael Fabiano Machado Rosa / Paulo Ricardo Gazzola Zen

    O Mundo da Saúde, Vol 45, Iss s/n (2021)

    2021  

    Abstract: A síndrome de Turner é uma doença genética rara e possui repercussão importante na assistência em saúde destas pacientes. Apesar da ST não ser incomum, ainda existem lacunas na literatura acerca da assistência de enfermagem. O objetivo do trabalho foi ... ...

    Abstract A síndrome de Turner é uma doença genética rara e possui repercussão importante na assistência em saúde destas pacientes. Apesar da ST não ser incomum, ainda existem lacunas na literatura acerca da assistência de enfermagem. O objetivo do trabalho foi inferir diagnósticos de enfermagem a partir das condições clínicas apresentadas pelas pacientes com síndrome de Turner (ST), conforme a taxonomia II NANDA-I. Trata-se de um estudo transversal e retrospectivo, de abordagem quantitativa. A amostra foi constituída por 59 pacientes com ST, diagnosticadas no período de 1993 a 2019. Os dados foram extraídos dos seus prontuários e submetidos à inferência diagnóstica pautados na taxonomia II NANDA-I. O julgamento clínico ocorreu com as principais dismorfias descritas entre as pacientes. No que tange aos resultados, a constituição cromossômica mais frequente foi a monossomia do cromossomo X (40,7%) e a média de idade do diagnóstico das pacientes foi de 15,9 anos (variou de 1 mês a 34 anos). As principais dismorfias descritas foram: baixa estatura, cúbito valgo, pectus excavatum e palato ogival. Os diagnósticos inferidos para a população estudada foram isolamento social, mobilidade física prejudicada, deglutição prejudicada, baixa autoestima situacional e padrão respiratório ineficaz. Concluiu-se que a proposição de diagnósticos de enfermagem possibilita qualificar a assistência destas pacientes, a partir de evidências no cuidado à pacientes com doenças raras.
    Schlagwörter Síndrome de Turner. Genética. Terminologia Padronizada em Enfermagem ; Medicine (General) ; R5-920
    Sprache Englisch
    Erscheinungsdatum 2021-03-01T00:00:00Z
    Verlag Centro Universitário São Camilo
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Thoracoabdominal ectopia cordis with good outcome.

    Acco, Fernanda Scalco / Bortoli, Andressa Fiori / Capaverde, Vinícius de Borba / Zen, Paulo Ricardo Gazzola / Rosa, Rafael Fabiano Machado

    Pediatrics international : official journal of the Japan Pediatric Society

    2019  Band 61, Heft 11, Seite(n) 1179–1180

    Mesh-Begriff(e) Abdomen/abnormalities ; Abdomen/surgery ; Cardiac Surgical Procedures/methods ; Computed Tomography Angiography ; Ectopia Cordis/diagnostic imaging ; Ectopia Cordis/surgery ; Hernia, Diaphragmatic/surgery ; Humans ; Infant, Newborn ; Male ; Reconstructive Surgical Procedures/methods ; Thorax/abnormalities ; Treatment Outcome
    Sprache Englisch
    Erscheinungsdatum 2019-11-13
    Erscheinungsland Australia
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1470376-2
    ISSN 1442-200X ; 1328-8067
    ISSN (online) 1442-200X
    ISSN 1328-8067
    DOI 10.1111/ped.13999
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Peripheral and Central Auditory Findings in Individuals with Williams Syndrome

    Rayane Fraga / Pricila Sleifer / Rafael Fabiano Machado Rosa / Paulo Ricardo Gazzola Zen

    Journal of Health Sciences (2019)

    2019  

    Abstract: Introduction: Williams syndrome (WS) is a rare neurodevelopment genetic condition. The syndrome may present manifestations associated with the central nervous system, hearing, and language. It is possible, as well, to observe an alteration in the central ...

    Abstract Introduction: Williams syndrome (WS) is a rare neurodevelopment genetic condition. The syndrome may present manifestations associated with the central nervous system, hearing, and language. It is possible, as well, to observe an alteration in the central auditory system, which can be diagnosed through long-latency auditory evoked potential (LLAEP). Objective: The aim of this study was to describe and analyze the results obtained by peripheral and central auditory evaluation on individuals with WS, verifying if there is a relationship between audiological findings and gender, age and ear side. Methods: This is a cross-sectional study in which 14 individuals with WS were evaluated. The exams performed consisted of pure tone audiometry, vocal audiometry, acoustic immittance measures, LLAEP, and cognitive potential. Results: The sample was composed of patients from 4 to 18 years old, with a mean age of 11.6 years old (±5.3), being 9 males (64.3%) and 5 females (35.7%). We mainly verified mild to moderate degree (40-44%) of sensorineural auditory loss (35.7-42.9%), type A tympanometric curve (57.1-64.3%), and absent acoustic reflexes (57.1%). As for central auditory evaluation, the subjects showed latency delay in all of the LLAEP components. Moreover, it was evidenced a statistically significant difference when comparing ears for amplitude on cognitive potential evaluation (p = 0.032), observing higher values at the left ear. It was also observed an inverse association between age and P1 wave latency both on the right (p = 0.006) and on the left ear (p = 0.022), and this result can be related to the nervous system maturational process of the WS individuals. Conclusion: There are few studies investigating the central auditory pathway on WS in literature. The present study contributes to the extension of the knowledge about the central involvement of the auditory phenotype in the syndrome. However, considering the sample size, more studies are suggested to confirm these findings.
    Schlagwörter Williams Syndrome ; Hearing ; Central Auditory Evaluation ; Event-Related Potentials ; Evoked Potentials ; Medicine (General) ; R5-920
    Thema/Rubrik (Code) 150
    Sprache Englisch
    Erscheinungsdatum 2019-07-01T00:00:00Z
    Verlag University of Sarajevo
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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