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1.
J Genet Couns ; 2023 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-37665163

RESUMO

Parents use several coping strategies to deal with the challenges of caring for children with disabilities. This qualitative study explored the spiritual/religious coping strategies adopted by Brazilian mothers of children with severe or profound intellectual disabilities who were attending the medical genetics clinic for genetic counseling. Individual semi-structured interviews were conducted with 15 participants, selected by convenience. Thematic content analysis was used to investigate the data. Five major themes were recognized: (1) spirituality/religion as a source of resilience; (2) surrender to God's plan; (3) a feeling of predestination; (4) children with a disability perceived/conceived as a blessing; and (5) pleading for divine intervention. Participants highlighted the ability to recover and adapt to bad circumstances and stressful events with God's support using spiritual/religious resources and practices. They attributed the cause and control of events in their lives to an external and transcendental source, showing themselves to be resigned to the condition of their child with a disability and his/her demands. The feeling of predestination appeared as a form of divine intervention as well as a way of attributing meaning to the situation. Their child with a disability was compared constantly to an "angel," a celestial being created by God to be a messenger and fulfill divine purposes. From the participants' perspective, these coping mechanisms appeared to have helped them adjust to the situation. Spirituality and religiousness have become crucial in cultures such as Brazil, where religious practices, often highly syncretic, are common. A more detailed and comprehensive understanding of how spiritual/religious coping strategies are mobilized during the genetic counseling process can improve the cultural competence of genetic counselors and help guide proposals for more effective clinical interventions.

2.
J Intellect Disabil ; 27(3): 794-807, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35543661

RESUMO

This cross-sectional and descriptive study examined the family quality of life (FQoL) among 72 Brazilian families who have children with Williams syndrome, a rare genetic disorder in which most individuals have an intellectual disability, usually mild. Data were collected using sociodemographic and clinical data forms and the Beach Center FQoL Scale. The overall FQoL score was 3.90 ± 0.45, below the limit of four points considered satisfactory. Families felt more satisfied with the family interaction (4.11 ± 0.57), parenting (4.07 ± 0.42), and disability-related support (3.94 ± 0.62) domains, and less satisfied with the family's emotional (3.49 ± 0.73) and physical/material well-being (3.73 ± 0.74) domains. Paternal education, children's cardiopathy and autonomy in activities of daily living explained 24.5% of the variance in the overall FQoL. Measures are necessary to improve the emotional and physical/material well-being of families to reduce the family burden. Monitoring the child's cardiac condition and promoting independence in activities of daily living are also the main procedures.


Assuntos
Qualidade de Vida , Síndrome de Williams , Criança , Humanos , Qualidade de Vida/psicologia , Atividades Cotidianas , Estudos Transversais , Brasil , Família/psicologia , Poder Familiar/psicologia
3.
Am J Med Genet A ; 188(11): 3294-3305, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35913016

RESUMO

This exploratory cross-sectional study aimed to examine the family quality of life (FQoL) among 51 Brazilian families who have children with Rubinstein-Taybi syndrome, a rare genetic disorder. Data were collected using sociodemographic and clinical data forms, as well as the Beach Center FQoL Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The average score of the overall FQoL was 3.93 ± 0.64. Families' scores were higher for family interaction (4.17 ± 0.76), parenting (4.13 ± 0.61), and disability-related support (4.08 ± 0.76) domains, and lower for the family's emotional well-being (3.31 ± 0.96) and physical/material well-being (3.76 ± 0.82) domains. Family income, attendance at religious services, presence of ocular abnormalities, and aggressive behavior explained 46.2% of the variance in the overall FQoL. In summary, FQoL seems to be anchored in aspects such as family interaction and the care of parents, and be negatively affected by emotional issues, physical, and material limitations. In this context, psychological assistance should be provided to both parents and siblings whenever indicated, for improving emotional well-being and increasing family resilience. Additionally, investments in social policies, services, and human and material resources are needed to improve the physical and material conditions of families, promote better health care, and therefore reduce the family burden.


Assuntos
Resiliência Psicológica , Síndrome de Rubinstein-Taybi , Brasil/epidemiologia , Criança , Estudos Transversais , Família/psicologia , Saúde da Família , Humanos , Poder Familiar/psicologia , Qualidade de Vida/psicologia , Síndrome de Rubinstein-Taybi/epidemiologia , Síndrome de Rubinstein-Taybi/genética
4.
Qual Health Res ; 31(11): 2123-2134, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34166121

RESUMO

With this research, we aimed to raise elements to enhance the understanding of alcohol consumption among pregnant women in Brazil. Fourteen women identified as alcohol consumers during pregnancy were interviewed. Alcohol consumption during pregnancy seemed to be associated with three groups of interconnected issues: subjective and individual issues (such as expectations, motivations, and women's difficulty in identifying their own consumption as risky); sociocultural and environmental issues (such as alcohol cultural value, easy access, and influence from relatives, friends, and partners); misinformation, inconsistent opinions publicized through media and lack of technically addressing the subject during prenatal care. Collective and individual health educative actions seem necessary to decrease alcohol consumption among Brazilian women with similar sociocultural characteristics. Media campaigns and explicit information about negative alcohol effects, articulated with individualized actions, such as a systematic approach of this theme during prenatal care, could allow earlier and more appropriate identification and intervention of women at risk.


Assuntos
Consumo de Bebidas Alcoólicas , Gestantes , Consumo de Bebidas Alcoólicas/epidemiologia , Brasil/epidemiologia , Feminino , Humanos , Motivação , Gravidez , Cuidado Pré-Natal
5.
Genet Mol Biol ; 40(2): 387-397, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28534929

RESUMO

Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758). Moreover, we report on Brazilian cases of teratogenesis due to the recent Zika virus infection, and to the use of misoprostol, thalidomide, alcohol and illicit drugs. Special attention has been given to the Zika virus infection, now proven to be responsible for the microcephaly outbreak in Brazil, with 8,039 cases under investigation (from October 2015 to June 2016). From those cases, 1,616 were confirmed and 324 deaths occurred due to microcephaly complications or alterations on the central nervous system. Congenital anomalies impact life quality and raise costs in specialized care, justifying the classification of teratogens as a public health issue.

6.
J Genet Couns ; 25(5): 1063-74, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-26944915

RESUMO

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients' lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1. The first stage was developed using a quantitative methodology, namely the WHOQOL-100 questionnaire; responses for the 13 patients were compared to a matched control group. The second stage comprised clinical-qualitative research whereby participants took part in a semi-structured interview; these data were analyzed using the categorical thematic analysis technique. There were no statistically significant differences in the questionnaire domains between the NF1 patients and the control subjects. Eighteen main themes were extracted from the interviews, showing interference of the NF1 visibility principally in psychological aspects and social relationships. Patients mentioned curiosity about NF1 and confusion about the distinctions between NF1 and contagious diseases, which lead to prejudice. They were concerned about the future and how the disease would develop in themselves and their offspring, and emphasized difficulties acquiring proper healthcare. These findings may help in planning healthcare for Brazilian NF1 patients and improving their quality of life.


Assuntos
Neurofibromatose 1/psicologia , Qualidade de Vida , Estresse Psicológico , Adolescente , Adulto , Brasil , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto Jovem
7.
Front Public Health ; 12: 1399333, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38799689

RESUMO

Introduction: Alcohol consumption during pregnancy can lead to fetal alcohol spectrum disorders. This study developed and validated a questionnaire to assess university students' knowledge regarding the effects of alcohol during pregnancy. Methods: We designed an instrument with true-false-I do not know statements. Initially, 45 true statements were formulated and subjected to content validation by 19 experts. Based on the Content Validity Index (CVI), 17 items were selected. The instrument, called the Fetal Alcohol Consequences Test (FACT), was first assessed by 31 university students for the level of understanding. Then, the questionnaire was administered to a national Brazilian sample of university students, and an Exploratory Factor Analysis (EFA) was conducted. Each correct FACT answer was worth 1 point, and the knowledge was categorized as high (total score ≥ 80%), moderate (score between 60 and 79%), and low (score ≤ 59%). Results: When the questionnaire was being designed, the CVI values ranged from 0.779 to 1.0, and all statements were considered suitable by the target audience. For psychometric evaluation, 768 students from 24 Brazilian states participated. In the EFA, five statements were removed, revealing a tool with 12 items and two latent factors: "fetal alcohol spectrum disorders" and "conceptions and guidance on alcohol consumption during pregnancy." The KMO index (0.76426) and Bartlett's sphericity test (6362.6, df = 66, p < 0.00001) both supported the final EFA model. The goodness-of-fit indices for the factor structure were adequate: χ2 = 119.609, df = 43, p < 0.00001; RMSEA = 0.048; CFI = 0.977; TLI = 0.965. The mean total FACT score among participants was 7.71 ± 2.98, with a median of 8; 32.03% of the students had high (10-12 points), 24.09% moderate (8-9 points), and 43.88% low knowledge (<8 points). The questionnaire proved reliable, with a floor effect of 1.17%, a ceiling effect of 9.25%, and a Cronbach's alpha index of 0.798. Conclusion: The FACT can be utilized in university students' health education processes, contributing to greater knowledge and information dissemination about the effects of alcohol during pregnancy, in addition to the formulation of policies on the subject directed to this group of young adults.


Assuntos
Consumo de Bebidas Alcoólicas , Conhecimentos, Atitudes e Prática em Saúde , Psicometria , Estudantes , Humanos , Feminino , Inquéritos e Questionários , Estudantes/psicologia , Gravidez , Universidades , Brasil , Masculino , Adulto Jovem , Adulto , Transtornos do Espectro Alcoólico Fetal , Reprodutibilidade dos Testes , Adolescente
8.
An Bras Dermatol ; 99(4): 520-526, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38493052

RESUMO

BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. OBJECTIVES: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. METHODS: This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05. RESULTS: The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028). STUDY LIMITATIONS: Cross-sectional study, conducted with a convenience sample and using self-reported measures. CONCLUSIONS: The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.


Assuntos
Neurofibromatose 1 , Qualidade de Vida , Fatores Socioeconômicos , Humanos , Feminino , Masculino , Estudos Transversais , Neurofibromatose 1/psicologia , Adulto , Brasil/epidemiologia , Pessoa de Meia-Idade , Adulto Jovem , Adolescente , Inquéritos e Questionários , Escolaridade
9.
Artigo em Inglês | MEDLINE | ID: mdl-38198376

RESUMO

This study aimed to determine the antibiotic profile of microorganisms isolated from urine samples of patients with community urine tract infections (UTI) admitted to the University Hospital of the Federal University of Sao Carlos to support an appropriate local empirical treatment. A retrospective cross-sectional study was conducted from October 2018 to October 2020. Data from 1,528 positive urine cultures for bacterial pathogens and antibiograms were tabulated. Bacterial species prevalence and their resistance profile were analyzed and compared by sex and age. For Gram-negative fermenting bacteria, resistance rates were compared between patients with previous hospitalization and the total of infections caused by this group. For comparisons, the Chi-square test was performed, using Fisher's exact test when necessary (BioEstat program, adopting p ≤ 0.05). A multivariate analysis was applied to assess the effect of the studied variables in predicting multidrug resistance. Infections were more prevalent in women and older adults. Gram-negative bacteria represented 90.44% of total cultures. In both sexes, E. coli prevalence was significantly higher in adults compared with older adults (p < 0.0001). For several antibiotics, resistance rates were higher in the older adults compared with other ages and in patients with Gram-negative fermenting infections and previous hospitalization compared with the total of infections by this group of bacteria. The closer to the hospitalization, the higher the number of antibiotics with superior resistance rates. Resistance rates for aminoglycosides, carbapenems, ceftazidime, nitrofurantoin, piperacillin+tazobactam, and fosfomycin were less than 20%, considered adequate for empirical treatment. Only hospitalization in the previous 90 days was statistically significant in predicting infections by multidrug-resistant bacteria.


Assuntos
Antibacterianos , Infecções Urinárias , Masculino , Humanos , Feminino , Idoso , Antibacterianos/farmacologia , Brasil/epidemiologia , Estudos Transversais , Escherichia coli , Prevalência , Estudos Retrospectivos , Farmacorresistência Bacteriana , Infecções Urinárias/tratamento farmacológico , Infecções Urinárias/epidemiologia , Hospitalização , Hospitais Universitários
10.
Front Med (Lausanne) ; 10: 1144226, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37200963

RESUMO

Sickle cell disease is the most common hemoglobinopathy among humans. As the condition promotes susceptibility to infections, chronic inflammation, and hypercoagulability disorders, several international agencies have included individuals with this disease in the COVID-19 risk group for severe outcomes. However, available information about the subject is not properly systematized yet. This review aimed to understand and summarize the scientific knowledge about the impact of SARS-CoV-2 infection in patients with sickle cell disease. Searches were performed in the Medline, PubMed, and Virtual Health Library databases based on descriptors chosen according to the Medical Subject Headings. We analyzed studies published between 2020 and October 2022, developed with qualitative, quantitative, or mixed methodology, and written in English, Spanish, or Portuguese. The search resulted in 90 articles organized into six categories. There is disagreement in the literature about how different aspects related to sickle cell disease, such as chronic inflammation status, hypercoagulability, hemolytic anemia, use of hydroxyurea, and access to medical care interference with the clinical course of COVID-19. These topics deserve further investigation. It is evident, however, that the infection may manifest in an atypical way and act as a trigger for the development of sickle cell-specific complications, such as acute chest syndrome and vaso-occlusive crises, conditions that are associated with great morbidity and mortality. Therefore, healthcare professionals must be aware of the different forms of presentation of COVID-19 among these individuals. Specific guidelines and therapeutic protocols, as well as public policies for sickle cell individuals, must be considered. Systematic review registration: This review (https://doi.org/10.17605/OSF.IO/NH4AS) and the review protocol (https://osf.io/3y649/) are registered in the Open Science Framework platform.

11.
Sao Paulo Med J ; 142(2): e2023015, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37610949

RESUMO

BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).


Assuntos
COVID-19 , Síndrome de Down , Humanos , SARS-CoV-2 , Síndrome de Down/complicações , Brasil/epidemiologia , Síndrome da Liberação de Citocina
12.
J Community Genet ; 14(4): 407-418, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37594660

RESUMO

This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were collected using forms that included sociodemographic and clinical information, as well as the Beach Center Family Quality of Life Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The mean overall FQoL score was 3.56 ± 0.79; the emotional well-being domain had the lowest score (2.98 ± 1.11) and showed significant differences between the other domains: family interaction (3.81 ± 0.89; p < 0.001), parenting (3.66 ± 0.89; p < 0.001), physical and material well-being (3.48 ± 0.83; p < 0.001), and disability-related support (3.75 ± 0.98; p < 0.001). Physical and material well-being was the second-lowest domain and was statistically different from the family interaction domain (p = 0.013). Lower FQoL satisfaction ratings were found in families with children who had difficulty getting along with people of the same age (t(51) = -3.193, p = 0.002; d = 1.019) and difficulty in living together on a day-to-day basis (t(51) = -3.060, p = 0.004; d = 0.888). These results highlight the importance of proper emotional support for the family, emphasizing the need to provide assistance not only for individuals with FXS but also for other family members. Besides, we advocate for the adoption of public policies that provide financial assistance to families and the implementation of the Brazilian Policy of Comprehensive Care for People with Rare Diseases.

13.
Lasers Med Sci ; 27(5): 1059-65, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22249456

RESUMO

Topical glucocorticoid (GC) therapy has been successfully used in the treatment of several common cutaneous diseases in clinical practice for a long time, and skin atrophy is one of the most typical cutaneous side effects of this therapy. The aim of this study was to evaluate the potential of noninvasive fluorescence spectroscopy (FS) technique in the detection and classification of GC-induced skin atrophy. A total of 20 male Wistar rats were used in the experimental protocol under controlled environmental conditions and with free access to food. One group received topical application of clobetasol propionate 0.05% for 14 days to induce cutaneous atrophy (atrophic group) and the other (control) group received only vehicle application following the same protocol and schedule. Histological analyses and FS measurements with laser excitation at both 532 nm and 408 nm were obtained on days 1 and 15. The FS results were classified as "normal" or "atrophic" according by histological analysis. Fluorescence spectra obtained with excitation at 408 nm allowed a clear distinction between the control and atrophic groups, and were more informative than the those obtained at 532 nm. Our results reveal that, if correctly applied, FS allows noninvasive evaluation of corticosteroid-induced skin atrophy, and thus represents an important step towards better monitoring of undesirable side effects of cutaneous therapy.


Assuntos
Glucocorticoides/efeitos adversos , Pele/efeitos dos fármacos , Pele/patologia , Espectrometria de Fluorescência/métodos , Animais , Atrofia , Clobetasol/efeitos adversos , Modelos Animais de Doenças , Masculino , Ratos , Ratos Wistar
14.
Arq Neuropsiquiatr ; 80(4): 360-367, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35293554

RESUMO

BACKGROUND: Intellectual disability (ID) and autism spectrum disorder (ASD) are often concomitant childhood developmental disorders. These disorders can alter family quality of life (FQoL). OBJECTIVE: To investigate FQoL among families who have children with mild ID, associated with mild ASD. METHODS: Cross-sectional descriptive study with 69 families who have children with mild ID and ASD, ranging from six to 16 years old, and who were provided with disability-related services in Brazil. Data were collected using a family sociodemographic questionnaire, an ID and ASD personal profile form, the Barthel index for activities of daily living and the Beach Center FQoL scale. RESULTS: People with ID and ASD had an average score of 88.2±11.5 in the Barthel index, thus indicating moderate dependency in basic activities of daily living. The average total FQoL score (3.56±0.34) was lower than the scores for the "family interaction" (3.91±0.42; p<0.001), "parenting" (3.79±0.35; p<0.001) and "disability-related support" (3.98±0.16; p<0.001) domains; and higher than the scores for the "physical/material well-being" (3.19±0.64; p<0.001) and "emotional wellbeing" (2.75±0.62; p<0.001) domains. Parents' marital condition, monthly family income, family religious practice and effective communication skills among the people with ID and ASD were predictors for FQoL (R2=0.407; p<0.001). CONCLUSIONS: FQoL was sustained through factors such as family interaction and parents' care for their children. Improving families' emotional wellbeing and physical and material conditions is likely to positively affect the FQoL of these families.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Atividades Cotidianas , Adolescente , Transtorno do Espectro Autista/psicologia , Criança , Estudos Transversais , Família/psicologia , Humanos , Qualidade de Vida/psicologia
15.
J Community Genet ; 12(3): 389-395, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33462772

RESUMO

We present the initial results of a neonatal screening program in part of the public health system in Honduras, that is, the Honduran Social Security Institute. The program design includes steps from neonatal bloodspot in the first newborn days to evaluation and treatment when necessary. In 2018 and 2019, 19,911 newborns were tested for hypothyroidism, cystic fibrosis, galactosemia, phenylketonuria, and adrenal hyperplasia. Abnormalities were identified in 18 newborns, corresponding to a prevalence of 9:10,000. Considering all births in Honduras, the estimated coverage of screening ranged between 4.4 and 5.7%. These results reinforce the need to expand and consolidate neonatal screening.

16.
PLoS One ; 16(6): e0253229, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34133461

RESUMO

OBJECTIVE: This study aimed to look for a possible relationship between thyrotropin (TSH) values from neonatal bloodspot screening testing and newborn lower auditory pathway myelinization evaluated using the brainstem evoked response audiometry (ABR) test. METHODS: Sixty-two healthy full-term newborns without perinatal problems were enrolled in the study. TSH results were collected from neonatal bloodspot screening data and were below the test cut-off level (15µUI/mL). The TSH test was performed between three and seven days, and the ABR test was performed in the first 28 days of life. The newborns were divided into two groups: Group 1 (n = 35), TSH between 0 and 5µUI/mL, and group 2 (n = 27), TSH between 5 and 15µUI/mL. Data are presented as mean ± SD, median, or percentage, depending on the variable. RESULTS: Wave latency and interpeak interval values for Groups 1 and 2 were as follows: Wave I: 1.8 ± 0.1 and 1.7 ± 0.1; Wave III: 4.4 ± 0.1 and 4.4 ± 0.1; Wave V: 6.9 ± 0.1 and 6.9 ± 0.1; interval I-III: 2.6 ± 0.1 and 2.6 ± 0.1; interval I-V: 5.1 ± 0.1 and 5.1 ± 0.1; interval III-V: 2.4 ± 0.1 and 2.4 ± 0.1. There were no significant differences in ABR parameters between groups 1 and 2 (p > 0.05). Multiple regression analysis showed a slight significant negative correlation between TSH and wave I values (standardized ß = -0.267; p = 0.036), without observing any relationship with the other ABR waves recorded. CONCLUSIONS: This study investigated the relationship of TSH and auditory myelinization evaluated by ABR. It did not show a significant change in lower auditory pathway myelinization according to TSH levels in newborns with TSH screening levels lower than 15 µUI/mL.


Assuntos
Vias Auditivas , Tireotropina/sangue , Adulto , Audiometria de Resposta Evocada , Vias Auditivas/crescimento & desenvolvimento , Vias Auditivas/fisiologia , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/fisiopatologia , Estudos Transversais , Feminino , Humanos , Recém-Nascido , Masculino
17.
J Pediatr (Rio J) ; 96(2): 202-209, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30315755

RESUMO

OBJECTIVE: This study analyzed the relationship between latent iron deficiency evaluated by ferritin, and the myelination of the central nervous system evaluated through the brainstem evoked response audiometry test. METHOD: A total of 109 full-term newborns, born without anemia and risk factor for hearing deficiency, were enrolled. After delivery, umbilical cord blood was collected to determine ferritin and hematocrit levels. The brainstem evoked response audiometry test was carried out in the first 28 days of life. Analysis was performed between the control group (n=71) with ferritin greater than 75ng/mL, and the latent iron deficiency group (n=38) with ferritin between 11 and 75ng/mL. Results were presented as mean±standard deviation. Statistical analysis was performed using GraphPad prism7 and SPSS with a significance level of 5%. RESULTS: A significant higher V-wave (p=0.02) and interpeak intervals I-III (p=0.014), I-V (p=0.0003), and III-V (p=0.0002) latencies were found in the latent iron deficiency group, as well as a significant inversely proportional correlation between ferritin and the same wave and intervals (p=0.003, p=0.0013, p=0.0002, p=0.009, respectively). Multiple correlation analysis showed a significant correlation of latent iron deficiency with all interpeak intervals, even taking into account newborn gestational age. CONCLUSION: Iron deficiency anemia is a prevalent pathology; this study showed auditory delayed maturation associated to intrauterine iron deficiency, even in its latent form. This reinforces the importance of adopting effective measures, on a global scale, to prevent and treat this pathology in different life periods, especially in the most vulnerable population.


Assuntos
Anemia Ferropriva , Potenciais Evocados Auditivos do Tronco Encefálico , Ferritinas , Sangue Fetal , Idade Gestacional , Humanos , Recém-Nascido , Nascimento a Termo
18.
PLoS One ; 14(10): e0223351, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31584967

RESUMO

BACKGROUND: In Brazil, alcohol consumption is estimated to range from 7 to 40% in pregnant women. This research investigated the motivation for alcohol consumption or abstinence during pregnancy in a purposive sample of Brazilian women. METHODS: Clinical-qualitative research was conducted, in which 14 women participated, identified as risk-drinkers during pregnancy by the T-ACE screening tool. Data were collected through semi-structured individual interviews. Reports were recorded, transcribed and investigated by a thematic content analysis approach. The results were discussed based on a comprehensive and interpretive framework. RESULTS: Sixteen themes were extracted and these were then classified into three thematic categories: (a) general motives for alcohol use, (b) specific motives for drinking during pregnancy, and (c) reasons for partly or fully abstaining from drinking during pregnancy. Social motives were the most relevant, particularly due to deeply rooted cultural values. Enhancement motives were widely mentioned and associated with a hedonic posture. Consumption also aimed to deal with negative emotions, characterizing two types of coping specifically to pregnancy: first, perceiving pregnancy as a period of less opportunity for social interaction and, therefore, drinking alcohol at home to compensate; secondly, perceiving pregnancy as a period of greater irritability, and hence experiencing difficulties to abstain. On the other hand, concern about fetal health, disapproval of consumption by relatives and health professionals, as well as the social construction of mothering were reported as reasons to abstain. CONCLUSIONS: Some specificities influence the decision to continue or discontinue alcohol consumption during pregnancy. To reduce consumption, we suggest educational actions based on a collective health perspective, articulated with individualized measures that allow identification and proper intervention for women at risk.


Assuntos
Abstinência de Álcool/psicologia , Consumo de Bebidas Alcoólicas/psicologia , Motivação , Adulto , Brasil/epidemiologia , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Pesquisa Qualitativa , Inquéritos e Questionários , Adulto Jovem
19.
São Paulo med. j ; 142(2): e2023015, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1509217

RESUMO

ABSTRACT BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).

20.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1529457

RESUMO

ABSTRACT This study aimed to determine the antibiotic profile of microorganisms isolated from urine samples of patients with community urine tract infections (UTI) admitted to the University Hospital of the Federal University of Sao Carlos to support an appropriate local empirical treatment. A retrospective cross-sectional study was conducted from October 2018 to October 2020. Data from 1,528 positive urine cultures for bacterial pathogens and antibiograms were tabulated. Bacterial species prevalence and their resistance profile were analyzed and compared by sex and age. For Gram-negative fermenting bacteria, resistance rates were compared between patients with previous hospitalization and the total of infections caused by this group. For comparisons, the Chi-square test was performed, using Fisher's exact test when necessary (BioEstat program, adopting p ≤ 0.05). A multivariate analysis was applied to assess the effect of the studied variables in predicting multidrug resistance. Infections were more prevalent in women and older adults. Gram-negative bacteria represented 90.44% of total cultures. In both sexes, E. coli prevalence was significantly higher in adults compared with older adults (p < 0.0001). For several antibiotics, resistance rates were higher in the older adults compared with other ages and in patients with Gram-negative fermenting infections and previous hospitalization compared with the total of infections by this group of bacteria. The closer to the hospitalization, the higher the number of antibiotics with superior resistance rates. Resistance rates for aminoglycosides, carbapenems, ceftazidime, nitrofurantoin, piperacillin+tazobactam, and fosfomycin were less than 20%, considered adequate for empirical treatment. Only hospitalization in the previous 90 days was statistically significant in predicting infections by multidrug-resistant bacteria.

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