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1.
Worldviews Evid Based Nurs ; 21(2): 110-119, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38491775

RESUMO

BACKGROUND: Nursing well-being has become a heightened focus since the COVID-19 pandemic. Nurses are leaving the profession early in their careers or retiring sooner than expected. Those who remain in the workforce report higher levels of burnout, anxiety, depression, and exhaustion. There is concern that there may be a shortage of at least half a million nurses by 2030. AIMS: This systematic review aimed to investigate the evidence of using a mental health promotion mHealth app to improve the mental health of hospital nurses. METHODS: A systematic search was conducted in CINAHL Plus with Full Text, MEDLINE with Full Text, Professional Development Collection, Psychology and Behavioral Sciences Collection, Sociological Collection, PsycInfo, Embase, and PubMed with search dates of January 2012-November 15, 2022. The mHealth intervention needed to be asynchronously delivered through a smartphone with hospital nurse participants to be included in this review. RESULTS: Of the 157 articles screened for this review, six were included. Primary outcome variables were anxiety, burnout, coping, depression, self-efficacy, stress, well-being, and work engagement. Intervention types included mindfulness-based interventions (MBIs), cognitive behavioral therapy (CBT), stress inoculation therapy (SIT), psychoeducation, and stress management. Anxiety, depression, well-being, and burnout improved with MBIs; depression improved with CBT; and anxiety and active coping improved with SIT. LINKING EVIDENCE TO ACTION: This review demonstrated promising findings in using mHealth apps to improve the mental health of hospital nurses. However, more randomized controlled trials with larger sample sizes may reveal which type of mHealth app and how much exposure to the intervention is more effective in improving specific mental health symptoms. Longitudinal follow-up is also recommended to study sustainability of the mental health improvements.


Assuntos
Enfermeiras e Enfermeiros , Telemedicina , Humanos , Saúde Mental , Pandemias , Hospitais
2.
Am J Med Genet A ; 194(6): e63514, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38329159

RESUMO

Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.


Assuntos
Genética Médica , Humanos , História do Século XX , História do Século XXI , Genética Humana
3.
Birth Defects Res ; 116(1): e2299, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38277411

RESUMO

BACKGROUND: Gastroschisis has increased worldwide over several decades; however, there are significant gaps in understanding risk factors for development of the defect, particularly those that might be modifiable. Despite advances in survival, little is known about longer-term outcomes for affected individuals. METHODS: On April 27- and 28, 2023, the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention (CDC) and March of Dimes sponsored a meeting entitled "Public Health Priorities for Gastroschisis". The meeting goals were to review current knowledge on gastroschisis, discuss research gaps, and identify future priorities for public health surveillance, research, and action related to gastroschisis. Meeting participants encompassed a broad range of expertise and experience, including public health, clinical care of individuals with gastroschisis, affected individuals and families, and representatives from professional organizations and federal agencies. RESULTS: Several goals were identified for future public health surveillance and research, including focused theory-driven research on risk factors and increased study of longer-term effects of gastroschisis through improved surveillance. Certain public health actions were identified, that which could improve the care of affected individuals, including increased education of providers and enhanced resources for patients and families. CONCLUSIONS: These efforts may lead to an improved understanding of pathogenesis, risk factors, and outcomes and to improved care throughout the lifespan.


Assuntos
Gastrosquise , Humanos , Estados Unidos , Gastrosquise/prevenção & controle , Gastrosquise/epidemiologia , Saúde Pública , Prioridades em Saúde , Centers for Disease Control and Prevention, U.S.
4.
bioRxiv ; 2024 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-38260370

RESUMO

Although an increased risk of the skin cancer melanoma in people with Parkinson's Disease (PD) has been shown in multiple studies, the mechanisms involved are poorly understood, but increased expression of the PD-associated protein alpha-synuclein (αSyn) in melanoma cells may be important. Our previous work suggests that αSyn can facilitate DNA double-strand break (DSB) repair, promoting genomic stability. We now show that αSyn is preferentially enriched within the nucleolus in the SK-MEL28 melanoma cell line, where it colocalizes with DNA damage markers and DSBs. Inducing DSBs specifically within nucleolar ribosomal DNA (rDNA) increases αSyn levels near sites of damage. αSyn knockout increases DNA damage within the nucleolus at baseline, after specific rDNA DSB induction, and prolongs the rate of recovery from this induced damage. αSyn is important downstream of ATM signaling to facilitate 53BP1 recruitment to DSBs, reducing micronuclei formation and promoting cellular proliferation, migration, and invasion.

5.
Pediatr Res ; 95(2): 566-572, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38057577

RESUMO

BACKGROUND: Studies examining the association between in utero Zika virus (ZIKV) exposure and child neurodevelopmental outcomes have produced varied results. METHODS: We aimed to assess neurodevelopmental outcomes among normocephalic children born from pregnant people enrolled in the Zika in Pregnancy in Honduras (ZIPH) cohort study, July-December 2016. Enrollment occurred during the first prenatal visit. Exposure was defined as prenatal ZIKV IgM and/or ZIKV RNA result at enrollment. Normocephalic children, >6 months old, were selected for longitudinal follow-up using the Bayley Scales of Infant and Toddler Development (BSID-III) and the Ages & Stages Questionnaires: Social-Emotional (ASQ:SE-2). RESULTS: One hundred fifty-two children were assessed; after exclusion, 60 were exposed and 72 were unexposed to ZIKV during pregnancy. Twenty children in the exposed group and 21 children in the unexposed group had a composite score <85 in any of the BSID-III domains. Although exposed children had lower cognitive and language scores, differences were not statistically significant. For ASQ:SE-2 assessment, there were not statistically significant differences between groups. CONCLUSIONS: This study found no statistically significant differences in the neurodevelopment of normocephalic children between in utero ZIKV exposed and unexposed. Nevertheless, long-term monitoring of children with in utero ZIKV exposure is warranted. IMPACT: This study found no statistically significant differences in the neurodevelopment in normocephalic children with in utero Zika virus exposure compared to unexposed children, although the exposed group showed lower cognitive and language scores that persisted after adjustment by maternal age and education and after excluding children born preterm and low birth weight from the analysis. Children with prenatal Zika virus exposure, including those normocephalic and have no evidence of abnormalities at birth, should be monitored for neurodevelopmental delays. Follow-up is important to be able to detect developmental abnormalities that might not be detected earlier in life.


Assuntos
Craniossinostoses , Complicações Infecciosas na Gravidez , Efeitos Tardios da Exposição Pré-Natal , Infecção por Zika virus , Zika virus , Gravidez , Lactente , Recém-Nascido , Feminino , Humanos , Estudos de Coortes , Infecção por Zika virus/diagnóstico , Desenvolvimento Infantil
6.
BMC Med Educ ; 23(1): 766, 2023 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-37833686

RESUMO

BACKGROUND: Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income countries (LMICs). Empowering health workers to identify and diagnose major external birth defects (BDs) is crucial to establishing effective hospital-based BD surveillance. Makerere University-Johns Hopkins University (MU-JHU) Research Collaboration BD Surveillance System consists of three diagnostic levels: (1) surveillance midwives, (2) MU-JHU clinical team, and (3) U.S. Centers for Disease Control and Prevention (CDC) birth defects subject matter experts (SMEs) who provide confirmatory diagnosis. The diagnostic concordance of major external BDs by surveillance midwives or MU-JHU clinical team with CDC birth defects SMEs were estimated. METHODS: Study staff went through a series of trainings, including birth defects identification and confirmation, before surveillance activities were implemented. To assess the diagnostic concordance, we analyzed surveillance data from 2015 to 2021 for major external BDs: anencephaly, iniencephaly, encephalocele, spina bifida, craniorachischisis, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate alone, cleft lip alone, cleft lip with cleft palate, imperforate anus, hypospadias, talipes equinovarus, limb reduction, gastroschisis, and omphalocele. Positive predictive value (PPV) as the proportion of BDs diagnosed by surveillance midwives or MU-JHU clinical team that were confirmed by CDC birth defects SMEs was computed. PPVs between 2015 and 2018 and 2019-2021 were compared to assess the accuracy of case diagnosis over time. RESULTS: Of the 204,332 infants examined during 2015-2021, 870 infants had a BD. Among the 1,245 BDs identified, 1,232 (99.0%) were confirmed by CDC birth defects SMEs. For surveillance midwives, PPV for 7 of 17 BDs was > 80%. For the MU-JHU clinical team, PPV for 13 of 17 BDs was > 80%. Among surveillance midwives, PPV improved significantly from 2015 to 2018 to 2019-2021, for microcephaly (+ 50.0%), cleft lip with cleft palate (+ 17.0%), imperforate anus (+ 30.0%), and talipes equinovarus (+ 10.8%). Improvements in PPV were also observed among MU-JHU clinical team; however, none were significant. CONCLUSION: The diagnostic accuracy of the midwives and clinical team increased, highlighting that BD surveillance, by front-line health care workers (midwives) in LMICs is possible when midwives receive comprehensive training, technical support, funding and continuous professional development.


Assuntos
Anus Imperfurado , Fenda Labial , Fissura Palatina , Pé Torto Equinovaro , Microcefalia , Masculino , Humanos , Uganda/epidemiologia , Hospitais
8.
Am J Med Genet A ; 191(6): 1546-1556, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36942736

RESUMO

The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child-parent trios, one child-mother duo, and 1513 parents of children with other birth defects were analyzed. Most (91%) cases were isolated BA. We performed (1) a trio-based analysis to identify rare de novo, homozygous, and compound heterozygous PAVs and (2) a case-control analysis using a sequence kernel-based association test to identify genes enriched with rare PAVs. While we replicated previous findings on PKD1L1, our results do not suggest that recurrent de novo PAVs play important roles in BA susceptibility. In fact, our finding in NOTCH2, a disease gene associated with Alagille syndrome, highlights the difficulty in BA diagnosis. Notably, IFRD2 has been implicated in other gastrointestinal conditions and warrants additional study. Overall, our findings strengthen the hypothesis that the etiology of BA is complex.


Assuntos
Atresia Biliar , Humanos , Atresia Biliar/epidemiologia , Atresia Biliar/genética , Atresia Biliar/diagnóstico , Exoma/genética , Homozigoto , Pais , Estudos de Casos e Controles , Proteínas de Membrana/genética
9.
PLoS Med ; 20(2): e1004181, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36827251

RESUMO

BACKGROUND: Children with congenital Zika syndrome (CZS) have severe damage to the peripheral and central nervous system (CNS), greatly increasing the risk of death. However, there is no information on the sequence of the underlying, intermediate, immediate, and contributing causes of deaths among these children. The aims of this study are describe the sequence of events leading to death of children with CZS up to 36 months of age and their probability of dying from a given cause, 2015 to 2018. METHODS AND FINDINGS: In a population-based study, we linked administrative data on live births, deaths, and cases of children with CZS from the SINASC (Live Birth Information System), the SIM (Mortality Information System), and the RESP (Public Health Event Records), respectively. Confirmed and probable cases of CZS were those that met the criteria established by the Brazilian Ministry of Health. The information on causes of death was collected from death certificates (DCs) using the World Health Organization (WHO) DC template. We estimated proportional mortality (PM%) among children with CZS and among children with non-Zika CNS congenital anomalies (CA) by 36 months of age and proportional mortality ratio by cause (PMRc). A total of 403 children with confirmed and probable CZS who died up to 36 months of age were included in the study; 81.9% were younger than 12 months of age. Multiple congenital malformations not classified elsewhere, and septicemia unspecified, with 18 (PM = 4.5%) and 17 (PM = 4.2%) deaths, respectively, were the most attested underlying causes of death. Unspecified septicemia (29 deaths and PM = 11.2%) and newborn respiratory failure (40 deaths and PM = 12.1%) were, respectively, the predominant intermediate and immediate causes of death. Fetuses and newborns affected by the mother's infectious and parasitic diseases, unspecified cerebral palsy, and unspecified severe protein-caloric malnutrition were the underlying causes with the greatest probability of death in children with CZS (PMRc from 10.0 to 17.0) when compared to the group born with non-Zika CNS anomalies. Among the intermediate and immediate causes of death, pneumonitis due to food or vomiting and unspecified seizures (PMRc = 9.5, each) and unspecified bronchopneumonia (PMRc = 5.0) were notable. As contributing causes, fetus and newborn affected by the mother's infectious and parasitic diseases (PMRc = 7.3), unspecified cerebral palsy, and newborn seizures (PMRc = 4.5, each) were more likely to lead to death in children with CZS than in the comparison group. The main limitations of this study were the use of a secondary database without additional clinical information and potential misclassification of cases and controls. CONCLUSION: The sequence of causes and circumstances involved in the deaths of the children with CZS highlights the greater vulnerability of these children to infectious and respiratory conditions compared to children with abnormalities of the CNS not related to Zika.


Assuntos
Paralisia Cerebral , Malformações do Sistema Nervoso , Complicações Infecciosas na Gravidez , Sepse , Infecção por Zika virus , Zika virus , Gravidez , Feminino , Recém-Nascido , Criança , Humanos , Brasil , Causas de Morte , Convulsões
10.
Birth Defects Res ; 115(3): 265-274, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36513609

RESUMO

Zika virus (ZIKV) was identified as a teratogen in 2016 when an increase in severe microcephaly and other brain defects was observed in fetuses and newborns following outbreaks in French Polynesia (2013-2014) and Brazil (2015-2016) and among travelers to other countries experiencing outbreaks. Some have questioned why ZIKV was not recognized as a teratogen before these outbreaks: whether novel genetic changes in ZIKV had increased its teratogenicity or whether its association with birth defects had previously been undetected. Here we examine the evidence for these two possibilities. We describe evidence for specific mutations that arose before the French Polynesia outbreak that might have increased ZIKV teratogenicity. We also present information on children born with findings consistent with congenital Zika syndrome (CZS) as early as 2009 and epidemiological evidence that suggests increases in CZS-type birth defects before 2013. We also explore reasons why a link between ZIKV and birth defects might have been missed, including issues with surveillance of ZIKV infections and of birth defects, challenges to ZIKV diagnostic testing, and the susceptibility of different populations to ZIKV infection at the time of pregnancy. Although it is not possible to prove definitively that ZIKV had teratogenic properties before 2013, several pieces of evidence support the hypothesis that its teratogenicity had been missed in the past. These findings emphasize the need for further investments in global surveillance for emerging infections and for birth defects so that infectious teratogens can be identified more expeditiously in the future.


Assuntos
Microcefalia , Complicações Infecciosas na Gravidez , Teratogênese , Infecção por Zika virus , Zika virus , Gravidez , Criança , Feminino , Recém-Nascido , Humanos , Complicações Infecciosas na Gravidez/epidemiologia , Teratogênicos/toxicidade , Microcefalia/epidemiologia , Microcefalia/etiologia , Infecção por Zika virus/epidemiologia
11.
J Rural Health ; 39(3): 535-544, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-35261082

RESUMO

PURPOSE: We sought to understand concerns fundamental to planning medical education specific to rural southern African Americans who are virtually nonexistent in American medical schools. METHODS: A diverse multidisciplinary research team conducted this qualitative study with 3 focus groups, including 17 rural medical educators recruited nationwide, 10 African American alumni of a rural medical education pipeline in Alabama, and 5 community and institutional associates of this pipeline. Analysis of recorded transcripts generated themes fitting an ecological model suggesting concerns and intervention foci at individual, community, and institutional levels. FINDINGS: Three major themes operating at all ecological levels were: (1) How "rural minority student" is defined, with "rural" often supplanting race to indicate minority status; (2) Multiple factors relate to rural racial minority student recruitment and success, including personal relationships with peers, mentors, and role models and supportive institutional policies and culturally competent faculty; and (3) Challenges to recruitment and retention of rural minority students, especially financial concerns and preparation for medical education. CONCLUSIONS: Our findings suggest that individuals, communities, and institutions provide intervention points for planning medical education specific to southern rural African Americans. These spheres of influence project a need for partnership among communities and rural medical educators to affect broad programmatic and policy changes that address the dire shortage of rural African American health professionals to help ameliorate health inequities experienced in their home communities. It is likely that linear thinking and programming will be replaced by integrated, intertwined conceptualizations to reach this goal.


Assuntos
Negro ou Afro-Americano , Educação Médica , Humanos , Grupos Focais , Saúde da População Rural , Pessoal de Saúde
12.
Birth Defects Res ; 114(14): 805-811, 2022 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-35906998

RESUMO

During the Centers for Disease Control and Prevention's Zika Virus Response, birth defects surveillance programs adapted to monitor birth defects potentially related to Zika virus (ZIKV) infection during pregnancy. Pregnancy outcomes occurring during January 2016 to June 2017 in 22 U.S. states and territories were used to estimate the prevalence of those brain and eye defects potentially related to ZIKV. Jurisdictions were divided into three groups: areas with widespread ZIKV transmission, areas with limited local ZIKV transmission, and areas without local ZIKV transmission. Prevalence estimates for selected brain and eye defects and microcephaly per 10,000 live births were estimated. Prevalence ratios (PRs) and 95% confidence intervals (CIs) were estimated using Poisson regression for areas with widespread and limited ZIKV transmission compared with areas without local ZIKV transmission. Defects with significantly higher prevalence in areas of widespread transmission were pooled, and PRs were calculated by quarter, comparing subsequent quarters to the first quarter (January-March 2016). Nine defects had significantly higher prevalence in areas of widespread transmission. The highest PRs were seen in intracranial calcifications (PR = 12.6, 95% CI [7.4, 21.3]), chorioretinal abnormalities (12.5 [7.1, 22.3]), brainstem abnormalities (9.3 [4.7, 18.4]), and cerebral/cortical atrophy (6.7 [4.2, 10.8]). The PR of the nine pooled defects was significantly higher in three quarters in areas with widespread transmission. The largest difference in prevalence was observed for defects consistently reported in infants with congenital ZIKV infection. Birth defects surveillance programs could consider monitoring a subset of birth defects potentially related to ZIKV in pregnancy.


Assuntos
Anormalidades Congênitas , Anormalidades do Olho , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Encéfalo/anormalidades , Encéfalo/virologia , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/virologia , Anormalidades do Olho/epidemiologia , Anormalidades do Olho/virologia , Feminino , Humanos , Lactente , Microcefalia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Prevalência , Infecção por Zika virus/complicações , Infecção por Zika virus/congênito , Infecção por Zika virus/epidemiologia
13.
J Pediatr ; 249: 59-66.e1, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35772508

RESUMO

OBJECTIVE: To assess whether the severity of cases of spina bifida changed after the institution of mandatory folic acid fortification in the US. STUDY DESIGN: Six active population-based birth defects programs provided data on cases of spina bifida for 1992-1996 (prefortification period) and 1999-2016 (postfortification period). The programs contributed varying years of data. Case information included both a medical record verbatim text description of the spina bifida diagnosis and spina bifida codes (International Classification of Diseases, Clinical Modification, or a modified birth defects surveillance coding system). Comparing the prefortification and postfortification periods, aORs for case severity (upper-level lesions [cervical, thoracic] vs lower-level lesions [lumbar, sacral]) and prevalence ratios (PRs) were estimated. RESULTS: A total of 2593 cases of spina bifida (out of 7 816 062 live births) met the inclusion criteria, including 573 cases from the prefortification period and 2020 cases from the postfortification period. Case severity decreased by 70% (aOR, 0.30; 95% CI, 0.26-0.35) between the fortification periods. The decrease was most pronounced for non-Hispanic White mothers. Overall spina bifida prevalence declined by 23% (PR, 0.77; 95% CI, 0.71-0.85), with similar reductions seen across the early, mid, and recent postfortification periods. A statistically significant decrease in upper-level lesions occurred in the postfortification period compared with the prefortification period (PR, 0.28; 95% CI, 0.22-0.34), whereas the prevalence of lower-level lesions remained relatively similar (PR, 0.94; 95% CI, 0.84-1.05). CONCLUSIONS: The severity of spina bifida cases decreased after mandatory folic acid fortification in the US. Further examination is warranted to better understand the potential effect of folic acid on spina bifida severity.


Assuntos
Ácido Fólico , Disrafismo Espinal , Feminino , Ácido Fólico/uso terapêutico , Alimentos Fortificados , Humanos , Nascido Vivo , Gravidez , Prevalência , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/prevenção & controle
14.
Vaccine ; 40(24): 3389-3394, 2022 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-35489985

RESUMO

BACKGROUND: Pregnant persons are at increased risk of severe illness from COVID-19 infection, including intensive care unit admission, mechanical ventilation, and death compared with non-pregnant persons of reproductive age. Limited data are available on the safety of COVID-19 vaccines administered during and around the time of pregnancy. OBJECTIVE: To evaluate and summarize reports to the Vaccine Adverse Event Reporting System (VAERS), a national spontaneous reporting system, in pregnant persons who received a COVID-19 vaccine to assess for potential vaccine safety problems. METHODS: We searched VAERS for US reports of adverse events (AEs) in pregnant persons who received a COVID-19 vaccine from 12/14/2020-10/31/2021. Clinicians reviewed reports and available medical records. Crude reporting rates for selected AEs were calculated, and disproportional reporting was assessed using data mining methods. RESULTS: VAERS received 3,462 reports of AEs in pregnant persons who received a COVID-19 vaccine; 1,831 (52.9%) after BNT162b2, 1,350 (38.9%) after mRNA-1273, and 275 (7.9%) after Ad26.COV2.S. Eight maternal deaths and 12 neonatal deaths were reported. Six-hundred twenty-one (17.9%) reports were serious. Pregnancy-specific outcomes included: 878 spontaneous abortions (<20 weeks), 101 episodes of vaginal bleeding, 76 preterm deliveries (<37 weeks), 62 stillbirths (≥20 weeks), and 33 outcomes with birth defects. Crude reporting rates for preterm deliveries and stillbirths, as well as maternal and neonatal mortality rates were below background rates from published sources. No disproportional reporting for any AE was observed. CONCLUSIONS: Review of reports to VAERS following COVID-19 vaccines in pregnant persons did not identify any concerning patterns of maternal or infant-fetal outcomes.


Assuntos
COVID-19 , Vacinas , Ad26COVS1 , Sistemas de Notificação de Reações Adversas a Medicamentos , Vacina BNT162 , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , Natimorto/epidemiologia , Estados Unidos/epidemiologia
15.
Birth Defects Res ; 114(7): 215-227, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35274497

RESUMO

BACKGROUND: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined exomes of children with non-syndromic SA. METHODS: Using buccal cell specimens from families of children with non-syndromic SA, exomes of 28 child-parent trios (eight with and 20 without a maternal diagnosis of pregestational diabetes) and two child-father duos (neither with diagnosis of maternal pregestational diabetes) were exome sequenced. RESULTS: Three children had heterozygous missense variants in ID1 (Inhibitor of DNA Binding 1), with CADD scores >20 (top 1% of deleterious variants in the genome); two children inherited the variant from their fathers and one from the child's mother. Rare missense variants were also detected in PDZD2 (PDZ Domain Containing 2; N = 1) and SPTBN5 (Spectrin Beta, Non-erythrocytic 5; N = 2), two genes previously suggested to be associated with SA etiology. Examination of variants with autosomal recessive and X-linked recessive inheritance identified five and two missense variants, respectively. Compound heterozygous variants were identified in several genes. In addition, 12 de novo variants were identified, all in different genes in different children. CONCLUSIONS: To our knowledge, this is the first study reporting a possible association between ID1 and non-syndromic SA. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings add to the knowledge of gene variants associated with non-syndromic SA and provide data for future studies.


Assuntos
Anormalidades Múltiplas , Meningocele , Anormalidades Múltiplas/genética , Exoma/genética , Humanos , Lactente , Região Sacrococcígea/anormalidades
16.
Birth Defects Res ; 114(8): 314-318, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35332688

RESUMO

BACKGROUND: The US Zika Pregnancy and Infant Registry (USZPIR) monitors infants born to mothers with confirmed or possible Zika virus infection during pregnancy. The surveillance case definition for Zika-associated birth defects includes microcephaly based on head circumference (HC). METHODS: We assessed birth and follow-up data from infants with birth HC measurements <3rd percentile and birthweight ≥10th percentile to determine possible misclassification of microcephaly. We developed a schema informed by literature review and expert opinion to identify possible HC measurement inaccuracy using HC growth velocity and longitudinal HC measurements between 2 and 12 months of age. Two or more HC measurements were required for assessment. Inaccuracy in birth HC measurement was suspected if growth velocity was >3 cm/month in the first 3 months or HC was consistently >25th percentile during follow-up. RESULTS: Of 6,799 liveborn infants in USZPIR, 351 (5.2%) had Zika-associated birth defects, of which 111 had birth HC measurements <3rd percentile and birthweight ≥10th percentile. Of 84/111 infants with sufficient follow-up, 38/84 (45%) were classified as having possible inaccuracy of birth HC measurement, 19/84 (23%) had HC ≥3rd percentile on follow-up without meeting criteria for possible inaccuracy, and 27/84 (32%) had continued HC <3rd percentile. After excluding possible inaccuracies, the proportion of infants with Zika-associated birth defects including microcephaly decreased from 5.2% to 4.6%. CONCLUSIONS: About one-third of infants in USZPIR with Zika-associated birth defects had only microcephaly, but indications of possible measurement inaccuracy were common. Implementation of this schema in longitudinal studies can reduce misclassification of microcephaly.


Assuntos
Microcefalia , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Peso ao Nascer , Feminino , Humanos , Lactente , Masculino , Microcefalia/diagnóstico , Microcefalia/epidemiologia , Microcefalia/etiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Sistema de Registros , Infecção por Zika virus/complicações , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/epidemiologia
17.
N Engl J Med ; 386(8): 757-767, 2022 02 24.
Artigo em Inglês | MEDLINE | ID: mdl-35196428

RESUMO

BACKGROUND: Prenatal exposure to Zika virus has potential teratogenic effects, with a wide spectrum of clinical presentation referred to as congenital Zika syndrome. Data on survival among children with congenital Zika syndrome are limited. METHODS: In this population-based cohort study, we used linked, routinely collected data in Brazil, from January 2015 through December 2018, to estimate mortality among live-born children with congenital Zika syndrome as compared with those without the syndrome. Kaplan-Meier curves and survival models were assessed with adjustment for confounding and with stratification according to gestational age, birth weight, and status of being small for gestational age. RESULTS: A total of 11,481,215 live-born children were followed to 36 months of age. The mortality rate was 52.6 deaths (95% confidence interval [CI], 47.6 to 58.0) per 1000 person-years among live-born children with congenital Zika syndrome, as compared with 5.6 deaths (95% CI, 5.6 to 5.7) per 1000 person-years among those without the syndrome. The mortality rate ratio among live-born children with congenital Zika syndrome, as compared with those without the syndrome, was 11.3 (95% CI, 10.2 to 12.4). Among infants born before 32 weeks of gestation or with a birth weight of less than 1500 g, the risks of death were similar regardless of congenital Zika syndrome status. Among infants born at term, those with congenital Zika syndrome were 14.3 times (95% CI, 12.4 to 16.4) as likely to die as those without the syndrome (mortality rate, 38.4 vs. 2.7 deaths per 1000 person-years). Among infants with a birth weight of 2500 g or greater, those with congenital Zika syndrome were 12.9 times (95% CI, 10.9 to 15.3) as likely to die as those without the syndrome (mortality rate, 32.6 vs. 2.5 deaths per 1000 person-years). The burden of congenital anomalies, diseases of the nervous system, and infectious diseases as recorded causes of deaths was higher among live-born children with congenital Zika syndrome than among those without the syndrome. CONCLUSIONS: The risk of death was higher among live-born children with congenital Zika syndrome than among those without the syndrome and persisted throughout the first 3 years of life. (Funded by the Ministry of Health of Brazil and others.).


Assuntos
Mortalidade Infantil , Infecção por Zika virus/congênito , Infecção por Zika virus/mortalidade , Peso ao Nascer , Brasil/epidemiologia , Pré-Escolar , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Lactente , Masculino
18.
Birth Defects Res ; 114(5-6): 184-196, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35098705

RESUMO

BACKGROUND: Neural tube defects (NTDs) encompass a variety of distinct types. We assessed if the preventive effect of folic acid (FA) varied by NTD type and infant sex. METHODS: We examined all pregnancies with NTD status confirmation from a pregnancy-monitoring system in selected locations in northern and southern regions of China between 1993 and 1996. Women who took 400 µg of FA daily during 42 days after last menstrual period were considered FA users. We analyzed NTD prevalence by FA use status, NTD type, geographic region, and infant sex. RESULTS: Among 626,042 pregnancies, 700 were affected by an NTD. Among FA nonusers, 65 pregnancies (8.8 per 10,000) in the north and 51 pregnancies (1.2 per 10,000) in the south were affected by one of the two rare NTDs, that is, craniorachischisis, iniencephaly. FA use prevented occurrence of these two rare NTDs and reduced the prevalence of spina bifida (SB) by 78% (from 17.9 to 3.9 per 10,000) in the north and 51% (from 2.4 to 1.2 per 10,000) in the south. Among FA users, SB prevalence, including SB with high lesion level, was significantly reduced in both geographic regions. FA use reduced prevalence of anencephaly and encephalocele by 85% and 50%, respectively in the north, while it did not reduce the prevalence of these two NTDs in the south. There was a greater reduction in NTD prevalence in female than in male infants and fetuses. CONCLUSIONS: This is the first study to show that FA prevents the entire spectrum of NTD types.


Assuntos
Anencefalia , Defeitos do Tubo Neural , Disrafismo Espinal , Anencefalia/epidemiologia , Anencefalia/prevenção & controle , China/epidemiologia , Suplementos Nutricionais , Feminino , Ácido Fólico , Humanos , Masculino , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/prevenção & controle , Gravidez , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/prevenção & controle
19.
Birth Defects Res ; 114(2): 80-89, 2022 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-34984857

RESUMO

BACKGROUND: In 2016, Zika virus (ZIKV) was recognized as a human teratogen. North Carolina (NC) had no local transmission of ZIKV but infants with relevant birth defects, including severe brain anomalies, microcephaly, and eye abnormalities, require specialized care and services, the costs of which have not yet been quantified. The objective of this study is to examine NC Medicaid healthcare expenditures for infants with defects potentially related to ZIKV compared to infants with no reported defects. METHODS: Data sources for this retrospective cohort study include NC birth certificates, Birth Defects Monitoring Program data, and Medicaid enrollment and paid claims files. Infants with relevant defects were identified and expenditure ratios were calculated to compare distributions of estimated expenditures during the first year of life for infants with relevant defects and infants with no reported defects. RESULTS: This analysis included 551 infants with relevant defects and 365,318 infants with no reported defects born 2011-2016. Mean total expenditure per infant with defects was $69,244 (median $30,544) for the first year. The ratio of these expenditures relative to infants with no reported defects was 14.5. Expenditures for infants with select brain anomalies were greater than those for infants with select eye abnormalities only. CONCLUSIONS: Infants with defects potentially related to ZIKV had substantially higher Medicaid expenditures than infants with no reported defects. These results may be informative in the event of a future outbreak and are a resource for program planning related to care for infants in NC.


Assuntos
Anormalidades do Olho , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Atenção à Saúde , Feminino , Gastos em Saúde , Humanos , Lactente , Medicaid , North Carolina/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Estudos Retrospectivos , Estados Unidos/epidemiologia , Infecção por Zika virus/epidemiologia
20.
Death Stud ; 46(2): 501-507, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-32212913

RESUMO

We report on a novel 2-week intensive outpatient treatment program (IOP) for 24 widows bereaved by the suicide death of their veteran spouse. We targeted symptoms of posttraumatic stress disorder (PTSD) and complicated grief (CG) concurrently in three separate cohorts. All patients either witnessed the death or discovered the body of their deceased partner, who was a veteran of the United States military. PTSD, CG, and depression symptom severity decreased significantly from pre- to post-treatment, with effect sizes of 0.85, 1.21, and 1.35, respectively. These outcomes provide preliminary support for an IOP to treat co-occurring PTSD and CG among widowed survivors of veteran suicide.


Assuntos
Militares , Transtornos de Estresse Pós-Traumáticos , Suicídio , Viuvez , Depressão , Feminino , Pesar , Humanos , Pacientes Ambulatoriais , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/terapia
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