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

{"title":"Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18.","authors":"Nadini Cristina Marins Martinez, Sheila Tamanini de Almeida, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen","doi":"10.1590/1984-0462/2024/42/2023169","DOIUrl":"10.1590/1984-0462/2024/42/2023169","url":null,"abstract":"<p><strong>Objective: </strong>To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil.</p><p><strong>Methods: </strong>This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020.</p><p><strong>Results: </strong>During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate.</p><p><strong>Conclusions: </strong>This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2023169"},"PeriodicalIF":0.0,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11197772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141452373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iron deficiency and changes in sleep: two conditions that compromise child growth and development.","authors":"Luiz Antonio Del Ciampo, Ieda Regina Lopes Del Ciampo","doi":"10.1590/1984-0462/2025/43/2024017","DOIUrl":"10.1590/1984-0462/2025/43/2024017","url":null,"abstract":"","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024017"},"PeriodicalIF":2.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141428465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaccination coverage and abandonment among children under two years old in Brazil: a time-series study.","authors":"Rossana Marchese Bittencourt Enore, Bruna Hinnah Borges Martins de Freitas, Ronaldo Antonio da Silva, Maria Aparecida Munhoz Gaíva","doi":"10.1590/1984-0462/2024/42/2023116","DOIUrl":"10.1590/1984-0462/2024/42/2023116","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the vaccination coverage and abandonment rates among children under two years old in Brazil, from 2015 to 2021.</p><p><strong>Methods: </strong>A time-series ecological study. The dependent variables of the research were \"vaccination coverage\" and \"abandonment rate\", both assessed by Brazilian region. The data were extracted in July 2022 from the Information System of the National Immunization Program. The Prais-Winsten technique was used for the trend analysis, with the aid of the STATA 16.0 software.</p><p><strong>Results: </strong>The mean vaccination coverage in Brazil was 76.96%, with a decreasing trend during the period (Annual Percent Change=-5.12; confidence interval - CI95% -7.81; -2.34); in 2015, the rate was 88.85% and it dropped to 62.35% in 2021. In turn, the overall abandonment rate was 24.00% in 2015 and 9.01% in 2021, with a mean of 10.48% and a stationary trend (Annual Percentage Change=-9.54; CI95% -22.92; 6.12). In 2021, all the vaccines presented coverage values below 74.00% in the country.</p><p><strong>Conclusions: </strong>The vaccination coverage rate trend among children under two years old was stationary or decreasing for all the immunobiologicals in all Brazilian regions, with the exception of yellow fever in the South and Southeast regions. There was an increase in the abandonment rate trend for the Meningococcal C vaccine in the country and, specifically in relation to the regions, for BCG in the North, Northeast, and Midwest and for Meningococcal C in the North and Northeast.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2023116"},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mortality trends and sociodemographic factors associated with early death in sickle cell disease patients in the state of São Paulo.","authors":"Nayara Dorta de Souza Avelino, Tulio Konstantyner, Kelsy Catherina Nema Areco, Juliana Moreira Franco, Josefina Aparecida Pellegrini Braga","doi":"10.1590/1984-0462/2024/42/2023113","DOIUrl":"10.1590/1984-0462/2024/42/2023113","url":null,"abstract":"<p><strong>Objective: </strong>To estimate trends in mortality rate and average age of death, and identify sociodemographic factors associated with early death in patients with sickle cell disease (SCD).</p><p><strong>Methods: </strong>An ecological and cross-sectional study was conducted using data from the Mortality Information System. All deaths of patients residing in the state of São Paulo from 1996 to 2015 with at least one International Disease Code for SCD in any field of the death certificate were included. Simple linear regression was used to estimate trends. The Log-rank test and multiple Cox regression were used to identify factors associated with early death.</p><p><strong>Results: </strong>The age-standardized mortality rate per million inhabitants increased by 0.080 per year (R2=0.761; p<0.001). When the events were stratified by age at death, the increase was 0.108 per year for those occurring at age 20 years or older, (R2=0.789; p<0.001) and 0.023 per year for those occurring before age 20 years old (R2=0.188; p=0.056). The average age at death increased by 0.617 years (7.4 months) per year (R2=0.835; p<0.001). Sociodemographic factors associated with early death identified were male gender (hazard ratio - HR=1.30), white race (HR=1.16), death occurring in the hospital (HR=1.29), and living in the Greater São Paulo (HR=1.13).</p><p><strong>Conclusions: </strong>The mortality rate and the average age of death in patients with SCD have increased over the last two decades. Sociodemographic factors such as gender, race, place of occurrence, and residence were found to be associated with early death.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2023113"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.","authors":"Adriana Amaral Carvalho, Renato Assis Machado, Célia Márcia Fernandes Maia, Luis Antônio Nogueira Dos Santos, Daniella Reis Barbosa Martelli, Ricardo Della Coletta, Hercílio Martelli Júnior","doi":"10.1590/1984-0462/2024/42/2022189","DOIUrl":"10.1590/1984-0462/2024/42/2022189","url":null,"abstract":"<p><strong>Objective: </strong>To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T).</p><p><strong>Case description: </strong>A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications.</p><p><strong>Comments: </strong>MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2022189"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombotic microangiopathy in patients with sickle cell disease.","authors":"Gabriella Biasi Carrasco, Patricia Belintani Blum, Josefina Aparecida Pellegrini Braga","doi":"10.1590/1984-0462/2024/42/2023108","DOIUrl":"10.1590/1984-0462/2024/42/2023108","url":null,"abstract":"<p><strong>Objective: </strong>To describe two cases of patients who had thrombotic microangiopathy (TMA) associated with sickle cell disease (SCD).</p><p><strong>Case description: </strong>Both patients started with a painful crisis and had acute chest syndrome during hospitalization. They showed significant worsening of hemolytic anemia, with very high levels of lactate dehydrogenase, thrombocytopenia, lowered level of consciousness, organ damage and the presence of schistocytes in peripheral blood. Due to the possibility of TMA, despite the very rare association with SCD, they were treated with fresh frozen plasma replacement and plasmapheresis, with good response.</p><p><strong>Comments: </strong>TMA is a serious, life-threatening disease, characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage. The association of SCD and TMA is difficult to diagnose, since they can share a similar clinical presentation. Recognizing this association and promptly instituting treatment may impact the survival of these patients.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2023108"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidental diagnosis of cardiac fibroma in an infant with acute viral bronchiolitis.","authors":"Yasmine Gorczevski Pigosso, Izabela Mara Fogiato, Gabriela Guimarães Vieira, André Vaz, Ana Paula Percicote, Bruno Hideo Saiki Silva, Paulo Ramos David João","doi":"10.1590/1984-0462/2024/42/2022157","DOIUrl":"10.1590/1984-0462/2024/42/2022157","url":null,"abstract":"<p><strong>Objective: </strong>Pediatric cardiac tumors are rare and, among them, 90% are benign. Cardiac fibroma is the second most frequent tumor, after rhabdomyoma. The objective of this study is to report a case of cardiac fibroma diagnosed incidentally in a patient admitted with acute viral bronchiolitis.</p><p><strong>Case description: </strong>A 5-month-old male infant was admitted to the pediatric emergency department with acute viral bronchiolitis requiring hospitalization. He presented a detectable respiratory syncytial virus in oropharyngeal swab, blood test with lymphocytosis and a chest radiography revealed cardiomegaly. Further cardiologic testing was performed detecting elevation of cardiac biomarkers, an electrocardiogram with alteration of left ventricular repolarization and echocardiogram with a heterogeneous mass in the left ventricular, with areas of calcification. A chest angiotomography suggested rhabdomyosarcoma or cardiac fibroma and a magnetic resonance showed a mass, with characteristics suggesting fibroma. The final diagnosis was made after two cardiac catheterizations for biopsy of the lesion, confirming cardiac fibroma by anatomopathological examination. Because the patient had moderate to severe systolic dysfunction, he was submitted to heart transplant.</p><p><strong>Comments: </strong>One third of cardiac fibromas are asymptomatic, generally diagnosed late through tests ordered for other reasons. The gold-standard test for definitive diagnosis is biopsy. Cardiac fibroma usually does not present spontaneous regression and, in most cases, partial or total surgical resection is necessary. When tumors are unresectable, heart transplantation should be indicated. It is essential to have detailed characterization of the cardiac mass to establish the most appropriate therapeutic approach for each patient.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2022157"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sudden infant death syndrome - a community intervention project.","authors":"Ana Fraga, Aida Correia de Azevedo, Joana Veloso, Marta Ferreira, Filipa Carvalho, Filipa Vale, Ana Correia de Azevedo, Ana Luísa Corte-Real","doi":"10.1590/1984-0462/2024/42/2022205","DOIUrl":"10.1590/1984-0462/2024/42/2022205","url":null,"abstract":"<p><strong>Objective: </strong>To capacitate pregnant women to comply with measures designed to prevent sudden infant death syndrome.</p><p><strong>Methods: </strong>A quasi-experimental study was conducted before and after the intervention that included pregnant women attending the Course of Preparation for Childbirth and Parenthood of Health Centers Cluster. Six training sessions were given in the context of preventing this syndrome. Three questionnaires were applied, one to evaluate the knowledge of pregnant women before classes, other was submitted after the sessions, and another, one month after the birth of the babies, to identify what skills were acquired and which were practiced.</p><p><strong>Results: </strong>Among 77 studied pregnant women, 70 answered pre-session questionnaire and the proportion of correct answers varied from from 60.0% to 84.3%. After the intervention, 64 women answered the questionnaire and the proportion of correct answers varied between 79.7% and 100% . Prior to the intervention, the most wrong answers were related to the role of smoking as a risk factor for sudden infant death syndrome and to the use of pacifiers as a protective measure. After the sessions, all women answered correctly to the questions concerning where the baby should sleep and the safest way to lay the baby in the cradle.</p><p><strong>Conclusions: </strong>Health education with the aim of establishing measures may have a significant impact in terms of care delivery and mortality rate caused by sudden infant death syndrome.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2022205"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bronchodilator response assessment through impulse oscillometry system and spirometry in children and adolescents with cystic fibrosis.","authors":"Tayná Castilho, José Dirceu Ribeiro, Renata Maba Gonçalves Wamosy, Juliana Cardoso, Gabriela Castilhos Ducati, Camila Isabel Santos Schivinski","doi":"10.1590/1984-0462/2024/42/2023162","DOIUrl":"10.1590/1984-0462/2024/42/2023162","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effect of bronchodilator on the respiratory mechanics and pulmonary function of children and adolescents with cystic fibrosis.</p><p><strong>Methods: </strong>Cross-sectional study on clinically stable children and adolescents with cystic fibrosis aged from six to 15 years. Participants underwent impulse oscillometry and spirometry evaluations before and 15 minutes after bronchodilator inhalation. The Kolmogorov-Smirnov test was applied to verify the sample distribution, and the Student's t-test and Wilcoxon test were used to compare the data before and after bronchodilator inhalation.</p><p><strong>Results: </strong>The study included 54 individuals with a mean age of 9.7±2.8 years. The analysis showed a statistically significant improvement in impulse oscillometry and spirometry parameters after bronchodilator inhalation. However, according to the American Thoracic Society (ATS) and European Respiratory Society (ERS) recommendations (2020 and 2021), this improvement was not sufficient to classify it as a bronchodilator response.</p><p><strong>Conclusions: </strong>The use of bronchodilator medication improved respiratory mechanics and pulmonary function parameters of children and adolescents with cystic fibrosis; however, most patients did not show bronchodilator response according to ATS/ERS recommendations.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2023162"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Grasping the meaning of perinatal palliative care for the multiprofessional team.","authors":"Fernanda Pegoraro de Godoi Melo, Adriana Valongo Zani, Juliane Pagliari Araujo, Adriana Martins Gallo, Marcelle de Oliveira Peripolli, Vanessa Suziane Probst","doi":"10.1590/1984-0462/2024/42/2023178","DOIUrl":"10.1590/1984-0462/2024/42/2023178","url":null,"abstract":"<p><strong>Objective: </strong>To grasp the meaning of perinatal palliative care for the multidisciplinary team.</p><p><strong>Methods: </strong>This is a qualitative study guided by content analysis. The study included 56 health professionals working in maternal and child units of a public university hospital. A semi-structured interview was conducted, which was recorded and subsequently fully transcribed. The collection took place from June 2018 to May 2019. Data were entered and exported to Atlas ti: The Qualitative Date Analysis & Research Software, version 23.1.1.0.</p><p><strong>Results: </strong>Four thematic categories emerged from the data analysis: palliative care and eligible public in the view of professionals; communication between family and team in decision-making; assistance in palliative care; humanized care.</p><p><strong>Conclusions: </strong>The professionals think of palliative care in Perinatology in a similar way and perceive the difficulties of communication with the family and decision-making. They agree that it is necessary to provide greater support to the family, and to provide comfort measures, either for the non-viable fetus or for the baby eligible for palliative care.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"42 ","pages":"e2023178"},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}