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

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Secular trend in height and associated factors among adolescents in Florianópolis, Santa Catarina, Brazil, between 2007 and 2017/2018. 2007年至2017/2018年巴西圣卡塔琳娜Florianópolis青少年身高及相关因素的长期趋势。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-05-02 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024159
Clair Costa Miranda, Jean Carlos Parmigiani De Marco, André de Araújo Pinto, Andreia Pelegrini
{"title":"Secular trend in height and associated factors among adolescents in Florianópolis, Santa Catarina, Brazil, between 2007 and 2017/2018.","authors":"Clair Costa Miranda, Jean Carlos Parmigiani De Marco, André de Araújo Pinto, Andreia Pelegrini","doi":"10.1590/1984-0462/2025/43/2024159","DOIUrl":"https://doi.org/10.1590/1984-0462/2025/43/2024159","url":null,"abstract":"<p><strong>Objective: </strong>To assess the secular trend in height among adolescents in Florianópolis between 2007 and 2017/2018, and identify factors associated with height by sex.</p><p><strong>Methods: </strong>The sample included 664 adolescents from public schools in 2007 and 1,008 in 2017/2018. Height was the dependent variable, with age, economic status, sexual maturity, physical activity, body fat (skinfold thickness), and fat-free mass as independent variables. Analysis of covariance evaluated the secular trend, and multiple linear regression identified associated factors.</p><p><strong>Results: </strong>There was a positive secular trend in height in both sexes when comparing the two surveys, with average increases of 3.5 cm in both sexes. Fat-free mass was a positive predictor and body fat was a negative predictor of height in both sexes. Additionally, physical activity emerged as a negative predictor of height specifically in boys.</p><p><strong>Conclusions: </strong>The research revealed a positive secular trend in the height of adolescents in Florianópolis. Fat-free mass contributes positively to gains in height, whereas body fat provides a negative contribution.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024159"},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12052308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060751","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}
引用次数: 0
Associations between children's dietary patterns, excessive weight gain, and obesity risk: cohort study nested to a randomized field trial. 儿童饮食模式、体重过度增加和肥胖风险之间的关系:随机领域试验的队列研究。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-03-24 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024117
Paola Seffrin Baratto, Caroline Nicola Sangalli, Paula Dos Santos Leffa, Julia Luzzi Valmorbida, Marcia Regina Vitolo
{"title":"Associations between children's dietary patterns, excessive weight gain, and obesity risk: cohort study nested to a randomized field trial.","authors":"Paola Seffrin Baratto, Caroline Nicola Sangalli, Paula Dos Santos Leffa, Julia Luzzi Valmorbida, Marcia Regina Vitolo","doi":"10.1590/1984-0462/2025/43/2024117","DOIUrl":"10.1590/1984-0462/2025/43/2024117","url":null,"abstract":"<p><strong>Objective: </strong>To identify the critical period of excessive weight gain (EWG) in childhood and the dietary patterns associated with it.</p><p><strong>Methods: </strong>A cohort study nested to a randomized field trial with mother-child pairs interviewed by home visits at ages six months, 12 months, three years, and six years. We selected 715 pregnant women from 20 healthcare centers in southern Brazil. EWG was considered as a change in body mass index-for-age (BMI-for-age) z-score >0.67. Two 24-hour recalls were used to determine the dietary patterns by exploratory factor analysis. The effect of dietary patterns on EWG was assessed by logistic regressions using Generalized Estimating Equations.</p><p><strong>Results: </strong>The critical period for EWG was from six to 12 months (46.5% BMI variation >0.67; n=228; p≤0.001). Dietary patterns at six months associated with EWG were baby bottles of cow´s milk added to baby cereal flours and added sugar (relative risk - RR 1.43; 95% confidence interval - 95%CI 1.15-1.79; p≤0.001 and RR 1.59; 95%CI 1.28-1.97, p≤0.001); fruit juice and creamy dessert (RR 1.39; 95%CI 1.08-1.33; p≤0.001) and sweet beverages (RR 1.19; 95%CI 1.02-1.38; p=0.024).</p><p><strong>Conclusions: </strong>The second semester of life was the most critical period for EWG in childhood, influenced mostly by the consumption of cow's milk added with baby cereal flour and sugar, fruit juice, creamy desserts, and sweet beverages. These findings emphasize the importance of early dietary interventions to promote healthier food choices and prevent EWG during infancy.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024117"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712517","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}
引用次数: 0
Forced expiration technique: impact on the respiratory mechanics parameters of children and adolescents with cystic fibrosis. 强迫呼气技术:对囊性纤维化儿童和青少年呼吸力学参数的影响。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-03-24 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024155
Patricia Morgana Rentz Keil, Renata Maba Gonçalves Wamosy, Tayná Castilho, Juliana Cardoso, Camila Isabel Santos Schivinski
{"title":"Forced expiration technique: impact on the respiratory mechanics parameters of children and adolescents with cystic fibrosis.","authors":"Patricia Morgana Rentz Keil, Renata Maba Gonçalves Wamosy, Tayná Castilho, Juliana Cardoso, Camila Isabel Santos Schivinski","doi":"10.1590/1984-0462/2025/43/2024155","DOIUrl":"10.1590/1984-0462/2025/43/2024155","url":null,"abstract":"<p><strong>Objective: </strong>Determine the immediate effect of forced expiration technique (FET) on the respiratory mechanics of children and adolescents with cystic fibrosis (CF). As a secondary objective, the effect of cough induced by FET was evaluated by comparing respiratory mechanics and lung function between those who coughed and those who did not during the FET.</p><p><strong>Methods: </strong>A before-after clinical trial was conducted with children and adolescents with CF aged six to 15 years. Respiratory mechanics parameters were assessed using the impulse oscillometry system (IOS) in three stages: basal IOS, post-huff IOS, and final post-diaphragmatic breathing exercises (DBE) IOS. For the intervention, FET was requested with five low-volume followed by three high-volume huffs, and finally ten DBE repetitions. Coughing occurred randomly and was not previously requested. To investigate whether FET-induced coughing alters oscillometric parameters, the participants were divided into two groups: those who presented with cough (CG) during the protocol and those who did not (NCG).</p><p><strong>Results: </strong>Forty-three children and adolescents with CF participated in the study (51.2% female), with an average age of 10.44±2.64 years, where forced expiratory value - FEV1=78.51±23.28%, and body mass index - BMI=17.18±2.24 kg/m2. The huffing sequence increased all oscillometric parameters, while DBE repetitions led to an increase in these parameters, without a complete return to baseline values. In terms of coughing, there was no significant difference between the NCG and CG in any of the parameters studied.</p><p><strong>Conclusions: </strong>It was observed that, during the FET, diaphragmatic breathing exercises can attenuate the effort exerted by the forced expiratory maneuver on the airways.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024155"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712521","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}
引用次数: 0
Multiple endocrine neoplasia type 1 in childhood and description of a novel variant. 儿童多发1型内分泌肿瘤及一种新变异的描述。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-03-24 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024175
Mayara Teixeira Alexandrino Sales, Rebeca Costa Castelo Branco, Carlos Henrique Paiva Granjeiro, Milena Silva Sousa, Luciana Felipe Férrer Aragão, Annelise Barreto de Carvalho, Ana Paula Dias Rangel Montenegro, Ana Rosa Pinto Quidute
{"title":"Multiple endocrine neoplasia type 1 in childhood and description of a novel variant.","authors":"Mayara Teixeira Alexandrino Sales, Rebeca Costa Castelo Branco, Carlos Henrique Paiva Granjeiro, Milena Silva Sousa, Luciana Felipe Férrer Aragão, Annelise Barreto de Carvalho, Ana Paula Dias Rangel Montenegro, Ana Rosa Pinto Quidute","doi":"10.1590/1984-0462/2025/43/2024175","DOIUrl":"10.1590/1984-0462/2025/43/2024175","url":null,"abstract":"<p><strong>Objective: </strong>To describe a case of multiple endocrine neoplasia type 1 in the pediatric age group and its molecular diagnosis.</p><p><strong>Case description: </strong>An 11-year-old boy began to present generalized tonic-clonic seizures in the presence of hypoglycemia, with high insulin dosage, leading to suspicion of insulinoma. Abdominal magnetic resonance imaging confirmed a pancreatic nodule, which was surgically resected, resulting in glycemic normalization. Low growth hormone levels and hyperprolactinemia, secondary to macroprolactinoma, were also identified. Treatment with cabergoline led to a reduction in size. Hyperparathyroidism was found asymptomatically, with parathyroid scintigraphy suggestive of adenoma, thus, the patient underwent subtotal parathyroidectomy and thymectomy with resolution of the condition. He entered puberty spontaneously at 15 years of age; however, he had decreased growth speed, short stature, and low insulin-like growth factor 1 (IGF-1) levels, indicating recombinant growth hormone. The next-generation sequencing panel for multiple endocrine neoplasia type 1 identified a probably pathogenic variant c.442A>C: p.(Thr148Pro) in heterozygosity in the MEN1 gene, without previous description in databases (ClinVar).</p><p><strong>Comments: </strong>We highlight the pre-pubertal age of multiple endocrine neoplasia type 1 diagnosis, which is made before age 21 in only 12-17% of cases, and hypoglycemia secondary to insulinoma as the initial manifestation, differing from what is most frequently described, namely prolactinoma and parathyroid adenoma. The clinical diagnosis was made based on the occurrence of two primary endocrine tumors and confirmed through a next-generation sequencing panel, with a variant not previously described in ClinVar.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024175"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712524","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}
引用次数: 0
The implications of hyperekplexia on children's quality of life: a report on two cases. 过度臂丛症对儿童生活质量的影响:两例报告。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-03-24 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024189
Beatriz Salimon Carlos Dos Santos, João Pedro Garcia de Mattos, Laura Souza Juliano, Rodrigo Rigoleto de Souza, César Antônio Franco Marinho
{"title":"The implications of hyperekplexia on children's quality of life: a report on two cases.","authors":"Beatriz Salimon Carlos Dos Santos, João Pedro Garcia de Mattos, Laura Souza Juliano, Rodrigo Rigoleto de Souza, César Antônio Franco Marinho","doi":"10.1590/1984-0462/2025/43/2024189","DOIUrl":"10.1590/1984-0462/2025/43/2024189","url":null,"abstract":"<p><strong>Objective: </strong>To report two pediatric cases of hyperekplexia in a small city of São Paulo state, Brazil.</p><p><strong>Case description: </strong>Two female patients, one aged three years and six months and one aged five months, receiving care from an APAE (Association of Parents and Friends of People with Disabilities) unit, were diagnosed with hyperekplexia 1, a neurological disorder characterized by an excessive startle response. Hyperekplexia cases can be divided into three subgroups: hereditary, sporadic, and symptomatic. Several specialists have examined patient 1 since she was three weeks old, leading to two initial diagnostic hypotheses (childhood chronic non-progressive encephalopathy and spastic cerebral palsy). She was diagnosed with hyperekplexia 1 at eleven months when a genetic test revealed changes in the GLRA1 gene. Patient 2, at birth, presented hyperextension of both legs, low-set ears, cranial asymmetry, prominent occiput, and tremors in the lower limbs. After several tests and evaluations, the final diagnosis was confirmed at three months old. Her family history indicates the possibility of hereditary hyperekplexia.</p><p><strong>Comments: </strong>The cases were compared with information obtained through a bibliographical review. Both patients presented several symptoms associated with hyperekplexia, including neurological symptoms such as increased startle response, convulsions, and hypertonia, which were alleviated with appropriate treatment. So far, combining multidisciplinary assistance with drug treatment, particularly anxiolytics and anticonvulsants, with clonazepam being the most used, has significantly contributed to both patients' improved quality of life. However, physical symptoms, such as hip dislocation and clubfoot, require future surgical intervention.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024189"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712528","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}
引用次数: 0
Protocol for translation and cross-cultural adaptation of diagnostic questionnaires for pediatric disorders of gut-brain interaction. 儿童肠脑相互作用疾病诊断问卷的翻译和跨文化改编方案。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-03-24 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024191
Thaís Moreno Tomé, Ana Beatriz de Menezes Lima, Janaína Mezzonato Machado, Mariana Tschoepke Aires, Silvio da Rocha Carvalho, José Cesar da Fonseca Junqueira, Carlos Fernando Francesconi
{"title":"Protocol for translation and cross-cultural adaptation of diagnostic questionnaires for pediatric disorders of gut-brain interaction.","authors":"Thaís Moreno Tomé, Ana Beatriz de Menezes Lima, Janaína Mezzonato Machado, Mariana Tschoepke Aires, Silvio da Rocha Carvalho, José Cesar da Fonseca Junqueira, Carlos Fernando Francesconi","doi":"10.1590/1984-0462/2025/43/2024191","DOIUrl":"10.1590/1984-0462/2025/43/2024191","url":null,"abstract":"<p><strong>Objective: </strong>To describe the protocol used for translation and cross-cultural adaptation of the questionnaires developed by the Rome Foundation for the diagnosis of disorders of gut-brain interaction in the pediatric population.</p><p><strong>Methods: </strong>The protocol was proposed based on a narrative review of the literature on the cultural adaptation process of measurement instruments in epidemiology, analyzing its stages, and verifying its use and feasibility. The guidelines for the cross-cultural adaptation of diagnostic instruments developed by the Rome Foundation, which defines and periodically reviews diagnostic criteria, were incorporated into the protocol.</p><p><strong>Results: </strong>The proposed protocol includes: (i) preparation; (ii) forward translation; (iii) reconciliation; (iv) backward translation; (v) review of the backward translation; (vi) cognitive debriefing; (vii) final review; (viii) calculation of the item content validity index; and (ix) approval by the Rome Foundation.</p><p><strong>Conclusions: </strong>The methodological steps described in this protocol may contribute to future translations and cross-cultural adaptations of diagnostic questionnaires of disorders of gut-brain interaction and other materials from the Rome Foundation, enabling their use in epidemiological studies.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024191"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712525","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}
引用次数: 0
Physical development and sociocultural context influences on children's physical activity. 身体发育和社会文化背景对儿童身体活动的影响。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-01-20 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024113
Alessandro Hervaldo Nicolai Ré, Maria Teresa Cattuzzo, David Stodden, Guilherme Dos Santos, Albert Lucas Olinto Tertuliano, Carlos Bandeira de Mello Monteiro, Diogo Henrique Constantino Coledam, Anthony David Okely
{"title":"Physical development and sociocultural context influences on children's physical activity.","authors":"Alessandro Hervaldo Nicolai Ré, Maria Teresa Cattuzzo, David Stodden, Guilherme Dos Santos, Albert Lucas Olinto Tertuliano, Carlos Bandeira de Mello Monteiro, Diogo Henrique Constantino Coledam, Anthony David Okely","doi":"10.1590/1984-0462/2025/43/2024113","DOIUrl":"10.1590/1984-0462/2025/43/2024113","url":null,"abstract":"<p><strong>Objective: </strong>To examine the predictive strength of cardiorespiratory fitness (CRF), motor competence (MC), maternal educational status, and parental perception of their children's favorite leisure activities for meeting physical activity (PA) guidelines of each gender among children aged 3-6 years.</p><p><strong>Methods: </strong>This is a cross-sectional study with 367 preschoolers (53% girls), assessing CRF (PREFIT 20m shuttle run), MC (battery of motor skills), PA (accelerometry), maternal education and parental perception of children's preferred leisure (questionnaires). Factorial analysis of covariance, multiple logistic regression, and chi-square tests were conducted.</p><p><strong>Results: </strong>In both genders, CRF was associated with meeting PA guidelines (girls: odds ratio [OR] 1.10; 95% confidence interval [CI] 1.03-1.18; boys: OR 1.12; 95%CI 1.05-1.19), independently of maternal education or parental perception of children's leisure activities. For girls, active leisure with balls (OR 28.91; 95%CI 6.88-121.50) and without balls (OR 4.32; 95%CI 1.95-9.57) enhanced the odds of compliance with PA guidelines, without effect of maternal education. For boys, maternal education was inversely associated with meeting the PA guidelines. Boys of lower-educated mothers were more likely to have activities with balls as favorite leisure, which was a stronger predictor and enhanced the odds of meeting the guidelines (OR 4.09; 95%CI 1.71-9.79) regardless of maternal education. Boys had a higher prevalence of active leisure with balls than girls (42.8 vs. 7.7%).</p><p><strong>Conclusions: </strong>Regardless of CRF or MC, family and sociocultural circumstances influenced PA according to gender. Health policies should encourage equal gender participation in culturally significant sports or activities of a particular region/country, specifically within the family context.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024113"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025818","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}
引用次数: 0
First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes. 左心发育不全综合征首次报道及候选基因综述。
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-01-20 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024133
Ana Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, Marcela Rodrigues Nunes, Rafaella Mergener, Luisa Pigatto Kalil, Patrícia Trevisan, Paulo Ricardo Gazzola Zen
{"title":"First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.","authors":"Ana Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, Marcela Rodrigues Nunes, Rafaella Mergener, Luisa Pigatto Kalil, Patrícia Trevisan, Paulo Ricardo Gazzola Zen","doi":"10.1590/1984-0462/2025/43/2024133","DOIUrl":"10.1590/1984-0462/2025/43/2024133","url":null,"abstract":"<p><strong>Objective: </strong>3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome. Furthermore, we aim to establish a gene-phenotype association.</p><p><strong>Case description: </strong>The diagnosis was made by karyotyping, followed by a literature investigation and in silico bioinformatic analysis about the possible candidate genes associated with congenital heart defects or hypoplastic left heart syndrome in 3p- syndrome. All genes analyzed that could affect heart formation are located in the 3p25.3 region, adjacent to the deleted region in the newborn from our case (3p26). Taking into account the technical limitations of the karyotype and the strength of evidence from each gene evaluated and locus proximity, it is likely that an unidentified partial break in the CAV3 gene occurred.</p><p><strong>Comments: </strong>We identified an indirect relation between gene CAV3 and hypoplastic left heart syndrome due to its strong association with cardiomyopathies and isolated cardiac defects. Furthermore, the cytogenetic band from our case is new information for the delimitation of a critical cardiac region on 3p syndrome, a discussion that has been ongoing since 1986. Thus, we reinforce the importance of cytogenetic investigation in patients with hypoplastic hearts and dysmorphia, assisting in diagnosis, definition of prognosis, and genetic counseling for the family.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024133"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024801","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}
引用次数: 0
Neonatal mortality of live births with congenital diaphragmatic hernia in São Paulo State, Brazil: Failure of care? 巴西<s:1>圣保罗州先天性膈疝活产新生儿死亡率:护理失败?
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-01-20 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024138
Ana Sílvia Scavacini Marinonio, Milton Harumi Miyoshi, Daniela Testoni Costa Nobre, Adriana Sanudo, Kelsy Catherina Nema Areco, Mandira Daripa Kawakami, Rita de Cássia Xavier Balda, Tulio Konstantyner, Carina Nunes Vieira E Oliveira, Paulo Bandiera-Paiva, Rosa Maria Vieira de Freitas, Monica La Porte Teixeira, Bernadette Cunha Waldvogel, Carlos Roberto Veiga Kiffer, Maria Fernanda Branco de Almeida, Ruth Guinsburg
{"title":"Neonatal mortality of live births with congenital diaphragmatic hernia in São Paulo State, Brazil: Failure of care?","authors":"Ana Sílvia Scavacini Marinonio, Milton Harumi Miyoshi, Daniela Testoni Costa Nobre, Adriana Sanudo, Kelsy Catherina Nema Areco, Mandira Daripa Kawakami, Rita de Cássia Xavier Balda, Tulio Konstantyner, Carina Nunes Vieira E Oliveira, Paulo Bandiera-Paiva, Rosa Maria Vieira de Freitas, Monica La Porte Teixeira, Bernadette Cunha Waldvogel, Carlos Roberto Veiga Kiffer, Maria Fernanda Branco de Almeida, Ruth Guinsburg","doi":"10.1590/1984-0462/2025/43/2024138","DOIUrl":"10.1590/1984-0462/2025/43/2024138","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to analyze if the healthcare organization of perinatal care and availability of referral neonatal intensive care units (NICU) impacted congenital diaphragmatic hernia (CDH) neonatal mortality in the period 2004-2020. This study analyzed the spatial distribution of neonatal deaths of live births with CDH in São Paulo State, Brazil, and its association with NICU beds' availability.</p><p><strong>Methods: </strong>Population-based study of all live births in São Paulo State from mothers residing in the same State, from 2004 to 2020. CDH definition was based on WHO-ICD-10 codes; CDH-associated neonatal death was defined as death up to 27 days after birth of infants with CDH. The distribution of CDH-associated neonatal mortality (per 10,000 live births) and NICU beds' availability (≥1 or not available) was mapped, and their association was evaluated by the Mann-Whitney test.</p><p><strong>Results: </strong>Among 10,246,686 live births, there were 1378 CDH-associated neonatal deaths across 124/645 (19.2%) municipalities of the State. The median CDH-associated neonatal mortality rate in municipalities with NICU beds was 1.22 (95%CI 0.99-1.51), similar to that found in municipalities with no NICU beds (1.40; 95%CI 1.15-1.67; p=0.224).</p><p><strong>Conclusions: </strong>CDH-associated neonatal deaths were spread throughout São Paulo State with no difference in CDH-associated neonatal mortality rates between municipalities with and without NICU beds available. These findings suggest the necessity of implementing regionalization strategies for CDH perinatal care in the State.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024138"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025708","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}
引用次数: 0
Effect of application of the thoracoabdominal rebalancing (TAR) method in moderate premature children: randomized and controlled clinical trial. 应用胸腹再平衡(TAR)方法治疗中度早产儿的效果:随机对照临床试验
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo Pub Date : 2025-01-20 eCollection Date: 2025-01-01 DOI: 10.1590/1984-0462/2025/43/2024069
Jaqueline Lomônaco Lemos, Denise Iunes, Aline Roberta Danaga, Carmélia Rocha, Juliana Bassalobre Carvalho Borges
{"title":"Effect of application of the thoracoabdominal rebalancing (TAR) method in moderate premature children: randomized and controlled clinical trial.","authors":"Jaqueline Lomônaco Lemos, Denise Iunes, Aline Roberta Danaga, Carmélia Rocha, Juliana Bassalobre Carvalho Borges","doi":"10.1590/1984-0462/2025/43/2024069","DOIUrl":"10.1590/1984-0462/2025/43/2024069","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the effect of the thoracoabdominal rebalancing (TAR) method on respiratory biomechanics, respiratory discomfort, pain sensation, and physiological parameters in moderate preterm newborns, compared to a control group.</p><p><strong>Methods: </strong>This randomized clinical trial was conducted in a neonatal intensive care unit. The evaluation included: Neonatal Infant Pain Scale, physiological parameters, Silverman-Andersen score, and biomechanics (thoracic cirtometry and Charpy angle). The newborns were randomized into the TAR group (n=17) or control group (n=13) and subjected to the slow expiratory flow acceleration technique (SEFA). The evaluation of a single session was performed three times: before, after, and 30 minutes after the intervention.</p><p><strong>Results: </strong>In the intergroup comparison, there was a significant difference in respiratory rate 30 minutes after the intervention. There was no significant difference in intra- and intergroup comparisons for pain and respiratory discomfort. Regarding biomechanics, there was a significant difference in the TAR group in the Charpy angle (between assessments 1 and 2), in the axillary cirtometry (between assessments 1 and 3), and in the xiphoid process (between assessments 2 and 3). In the control group, a significant difference was observed in the axillary line (between assessments 1 and 2; 2 and 3).</p><p><strong>Conclusions: </strong>The TAR method showed a positive effect on respiratory rate and respiratory biomechanics when compared to the control group. In both groups, the techniques did not promote respiratory discomfort or pain sensation, making them safe techniques for this population.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024069"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143026116","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}
引用次数: 0
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