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

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.

Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case-control study.

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.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

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.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

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.

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study.

BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.

Diagnósticos de enfermagem na síndrome de Turner / Nursing diagnoses in Turner syndrome

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.

Turner's syndrome (TS) is a rare genetic disease and has an important impact on the health care of these patients. Although TS is not uncommon, there are still gaps in the literature about nursing care. The objective of the study was to infer nursing diagnoses from the clinical conditions presented by patients with Turner syndrome, according to NANDA-I taxonomy II. This is a cross-sectional and retrospective study, with a quantitative approach. The sample consisted of 59 patients with TS, diagnosed from 1993 to 2019. The data were extracted from their medical records and submitted to diagnostic inference based on the NANDA-I taxonomy II. The clinical judgment occurred with the main dysmorphias described among the patients. Regarding the results, the most common chromosomal constitution was X chromosome monosomy (40.7%) and the mean age of the patients at diagnosis was 15.9 years (ranged from 1 month to 34 years). The main dysmorphias described were: short stature, ulna valgus, pectus excavatum, and ogival palate. The diagnoses inferred for the studied population were social isolation, impaired physical mobility, impaired swallowing, low situational self-esteem, and ineffective breathing patterns. It was concluded that the proposal of nursing diagnoses makes it possible improve the assistance of these patients, based on evidence in the care of patients with rare diseases.

Birth weight, length and head circumference: Progression and impact over the outcome of patients with congenital heart disease.

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. Controls were composed of patients with no clinical evidence of CHD hospitalized soon after cases. The cases underwent high-resolution karyotype and fluorescence in situ hybridization (FISH) for 22q11 microdeletion. We analyzed birth weight, length and head circumference of patients of both groups. For CHD patients, we evaluated their progression and impact until hospitalization at ICU. RESULTS: Our sample was composed of 198 cases and controls. We observe a difference in birth weight of CHD patients only in relation to general population. There was a significant increase in children with CHD and weight below the lower limit from birth until the hospitalization at ICU, and this occurred more in those without complex CHD. Syndromic patients and with an extracardiac malformation also presented a greater difficulty to maintain not only the weight but also the length/height until the hospitalization. Individuals with weight below the lower limit at hospitalization who died had a tendency to present longer stay at ICU. CONCLUSIONS: Some CHD patients, especially without complex defects, and with syndromic aspect and a major extracardiac malformation, present a higher difficult to maintain their weight and growth, and, therefore, may be at risk and should be more closely monitored.