Publications by authors named "Rosana Cardoso Manique Rosa"
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
Rev Paul Pediatr
July 2018
Objective: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents.
Case Description: The patient was the third son of young and healthy parents.
Birth weight, length and head circumference: Progression and impact over the outcome of patients with congenital heart disease.
Int J Cardiol
September 2017
Background: There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome.
Methods: The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil.
Objective:: Investigate the relationship of the tumor volume after preoperative chemotherapy (TVAPQ) and before preoperative chemotherapy (TVBPQ) with overall survival at two and at five years, and lifetime.
Methods:: Our sample consisted of consecutive patients evaluated in the period from 1989 to 2009 in an Onco-Hematology Service. Clinical, histological and volumetric data were collected from the medical records.
Context And Objective: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.
Design And Setting: A retrospective study in a referral hospital in southern Brazil.
Context: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.
Case Report: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative.
Background: Wilms tumor (WT) is the most common renal malignancy of childhood. The aim of this study was to verify the epidemiological profile and prognosis of a sample of patients from Brazil and compare them to similar data from other Latin American studies.
Method: The sample consisted of consecutive patients diagnosed with WT in an oncohematology service of a referral hospital in Southern Brazil, between 1989 and 2009.
Background: Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients-among them are neural tube defects.
Methods: We verified the frequency and types of major neural tube defects observed among patients with trisomy 18.
Background: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality.
Objective: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS.
Methods: We conducted a cross-sectional study with a control cohort.
Objective: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES).
Method: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings.
Context: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival.
Case Reports: The first patient was a boy aged six years and five months presenting weight of 14.
The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined.
View Article and Find Full Text PDFObjective: To assess the psychometric properties of the official Brazilian Portuguese-language version of the Paediatric Asthma Quality of Life Questionnaire (PAQLQ) in a representative group of Brazilian children and adolescents with asthma.
Methods: A total of 125 individuals with asthma, aged 8-17 years and being monitored at a pediatric pulmonology outpatient clinic in the city of Porto Alegre, Brazil, completed the PAQLQ. Validity was assessed by means of convergent validity (correlation between PAQLQ domains and those of the Pediatric Quality of Life Inventory (PedsQL) 4.
Purpose: to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities.
Methods: a retrospective analysis of the clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted.