Epidemiologic Characteristics, Time Trend, and Seasonality of Orofacial Clefts in São Paulo State, Brazil. 2008-2019.

OBJECTIVE: To characterize the epidemiology, identify trends in prevalence, seasonality, and risk factors for orofacial clefts (OFC), selecting the São Paulo state (SPS) population database. DESIGN: A population-based study to estimate the OFC prevalence trends in recent years, stratified by maternal age and SPS geographical clusters. SETTING: All live births (LB) with OFC in SPS from 2008-2019. PATIENTS: 5342 cases of OFC among 7 301 636 LB. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: OFC prevalence trends, annual percent change (APC) with a 95% confidence interval, and seasonality. RESULTS: We found an OFC prevalence of 7.3/10 000LB in SPS, Brazil. Among all the cases, the majority were male (57.1%), Caucasian (65.4%), 77.8% born at term, 75.8% weight >2500 g, 97.1% singleton, and 63.9% of births were by cesarean section. From 2008-2019, SPS presented a stationary OFC prevalence trend; in São Paulo city, the highest APC was observed (0.05%); the maternal age group with the highest OFC prevalence rate was ≥35 years (9.2/10 000LB). We identified the existence of seasonal variation based on the conception date in the final months of the year, corresponding to the spring season (P < .001). CONCLUSION: OFC had a stationary prevalence trend in recent years, with the highest prevalence in the Central North Cluster and ≥35 years maternal age group. Seasonality was observed in the spring season, and congenital malformation of lips was the most common associated pathology. This population-based study is the first to summarize the current epidemiology of OFC in SPS.

Congenital heart diseases trends in São Paulo State, Brazil: a national live birth data bank analysis.

BACKGROUND: Congenital heart diseases (CHD) are the most common type of birth defects, affecting millions of newborns every year; no prevalence data are available in São Paulo State, Brazil's most populous state. The objective is to identify trends in prevalence and risk factors for CHD in São Paulo State, Brazil. METHODS: We developed a population-based study to estimate the CHD trend of prevalence in recent years, stratified by maternal age and geographical clusters, using all cases of CHD identified by the Live Births Information System (SINASC-Sistema de Informação Sobre Nascidos Vivos) from January 1, 2005, to December 31, 2018. We calculated the trends of prevalence, the regression coefficient (ß), the annual percent change (APC), and 95% confidence interval using the Prais-Winsten regression model, with the Durbin-Watson test. RESULTS: We found 10,594 cases of CHD among 8,536,101 live births (LB), a prevalence of 12.4/10,000 LB. There was no difference in the sex distribution; they are primarily Caucasian (60.2%), 75.2% born at term, and 74.4% weight > 2500 g, 66.9% of births were by cesarean section. São Paulo State presented an increasing CHD trend of prevalence (APC = 18.9%). The highest CHD prevalence rate was in mothers aged ≥ 35 years (22.2/10,000 LB). There were 12,271 specific congenital heart defects among 10,594 patients (1.16 CHD/patient). Atrial septal defect has the highest number of cases (3835), with a prevalence of 4.49/10,000 LB, corresponding to 31.3% of all CHD. CONCLUSION: CHD had an increasing prevalence trend in recent years, being highest in São Paulo City and ≥ 35-year mothers.

Epidemiological characteristics of live births with esophageal atresia in Sao Paulo State, Brazil, from 2005 to 2018.

Background: The estimated prevalence of esophageal atresia (EA) is 1 in 2500-4500 live births (LBs). Researchers have already identified risk factors, but the mechanisms are still unknown. The aim of this study is to identify EA prevalence trends and its risk factors in the São Paulo State (SPS) population database. Methods: We conducted a population-based study using all EA cases identified by the Live Births Information System across 14 years (2005-2018) to estimate EA prevalence trends in recent years, stratified by maternal age and SPS geographical clusters. We calculated the prevalence trends, regression coefficient (ß), annual percent change (APC), and 95% confidence interval (CI). Results: We found 820 EA cases among 8,536,101 LBs with a prevalence of 1.0/10,000 LBs in SPS, Brazil. There was no significant difference in distribution by sex. Among all the cases, the majority (65%) were Caucasian; 51.8% were born at term; 43% had weight of ≥2500 g; 95.4% were singleton; and 73.4% of births were by cesarean section. From 2005 to 2018, there was an increasing trend of EA prevalence (APC=6.5%) with the highest APC of 12.2%. The highest EA prevalence rate (1.7/10,000 LB) was found in the group with maternal age of ≥35 years. No significant seasonal variation was found based on the conception month (p=0.061). Conclusions: EA had an increasing prevalence trend in SPS, Brazil, in recent years, with the highest prevalence rate in the group with maternal age of ≥35 years. No seasonality was observed. This population-based study is the first to summarize the current epidemiology of EA in SPS LB.

Increasing prevalence, time trend and seasonality of gastroschisis in São Paulo state, Brazil, 2005-2016.

To estimate the gastroschisis seasonality and trend of prevalence in recent years, stratified by maternal age and geographical clusters of São Paulo state, a population-based study was designed. We used data from the Live Births Information System (SINASC) in São Paulo state, Brazil, from 2005 to 2016. Trends of prevalence were evaluated for the specific subgroups using the Prais-Winsten regression model, and the Durbin-Watson test was used, to estimate the regression coefficient, the annual percent change (APC), and 95% confidence interval (CI). We observed 1576 cases of gastroschisis among 7,317,657 live births (LB), a prevalence of 2.154 (95% CI: 2.047-2.260) per 10,000 LB which included, 50.6% males, 67.4% Caucasians, 53.4% preterm births, and 80.9% caesarean births. The prevalence of gastroschisis significantly increased by 2.6% (95% CI: 0.0-5.2) per year, and this trend was higher in mothers aged 30-34 years (APC: 10.2, 95% CI: 1.4-19.4) than in mothers of other age groups. Between 2011 and 2016, we identified the existence of seasonality based on the date of conception in the middle months of the year (p = 0.002). This is the first and largest population-based study summarizing current epidemiology and identifying trend of prevalence of gastroschisis in São Paulo state.

Complete Androgen Insensitivity Syndrome and Literature Review / Síndrome da insensibilidade androgênica completa e revisão de literatura

BACKGROUNG: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as "testicular feminization". It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. The main clinical presentation in childhood is the presence of bilateral inguinal hernia in phenotypically female subjects. Incidence of androgen insensitivity syndrome in phenotypically females with inguinal hernia is estimated in 0.8% to 2.4%. This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. CASE SUMMARY: We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. CONCLUSION: Investigation of CAIS should be standard in pre-pubertal girls with bilateral inguinal hernia, genetic techniques involving X chromatin or Y chromosome tests present the best choices.

INTRODUÇÃO: A síndrome da insensibilidade androgênica completa (SIAC) é relatada desde 1923, mas foi em 1953 que ficou conhecida como "feminilização testicular". É uma doença genética recessiva rara, ligada ao cromossomo X, causando diversas mutações no receptor de androgênio. A principal apresentação clínica na infância é a presença de hérnia inguinal bilateral em indivíduos fenotipicamente femininos com uma incidência estimada de 0,8% a 2,4%. Apresentamos um caso de insensibilidade androgênica completa, com revisão de literatura dos métodos diagnósticos pré operatórios. Relato do Caso: Apresentamos uma criança de 3 anos e 6 meses de idade com fenótipo feminino, nascida em São Paulo, Brasil diagnosticada com síndrome da insensibilidade androgênica completa, durante a cirurgia de herniorrafia inguinal bilateral e apresentamos potenciais alternativas diagnósticas a fim de evitar esse tipo de surpresa durante a cirurgia. CONCLUSÃO: Em meninas pré-puberes, portadoras de hérnia inguinal bilateral, a pesquisa de SIAC se faz necessária, técnicas genéticas que utilizam a pesquisa da cromatina X ou do cromossomo Y seriam as melhores escolhas.

A unique case of inflammatory fibroid polyp in the duodenum of a female adolescent: Case report and literature review.

BACKGROUND: Inflammatory fibroid polyp (IFP) is a very rare benign condition in children that can occur throughout the gastrointestinal tract. It is characterized as a polypoid lesion originating in the submucosa, composed of connective tissue and eosinophilic infiltrate. It is most common in the stomach and in adults between the fifth and seventh decades of life. Its occurrence is unusual in the duodenum. CASE SUMMARY: One case of duodenal IFP was described and the literature is reviewed with emphasis on the clinical and pathological features of IFP in children. A case of an IFP in the duodenum of a 13-year-old girl, who presented with abdominal pain, weight loss, vomiting, and constipation. The patient underwent exploratory laparotomy; a stenosing tumor of the third duodenal portion was found. The affected segment was resected and an end-to-end anastomosis between the duodenum and jejunum segment was performed. Immunohistochemically, actin and CD34 were positive, Ki67 was positive in <1% of cells, and the proteins CD117 and S100 were negative. CONCLUSION: To our best of our knowledge, this is the fourth report of IFP in adolescents, the first in a female's duodenum.