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BMC Medical Genomics Jun 2024TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and...
BACKGROUND
TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset. The onset and severity of the features were considered to be correlated with the types and location of the TTN variants.
METHODS
Whole-exome sequencing was performed on three unrelated families presenting with fetal akinesia deformation sequence (FADS), mainly characterized by reduced fetal movements and limb contractures. Sanger sequencing was performed to confirm the variants. RT-PCR analysis was performed.
RESULTS
TTN c.38,876-2 A > C, a meta transcript-only variant, with a second pathogenic or likely pathogenic variant in trans, was observed in five affected fetuses from the three families. Sanger sequencing showed that all the fetal variants were inherited from the parents. RT-PCR analysis showed two kinds of abnormal splicing, including intron 199 extension and skipping of 8 bases.
CONCLUSIONS
Here we report on three unrelated families presenting with FADS caused by four TTN variants. In addition, our study demonstrates that pathogenic meta transcript-only TTN variant can lead to defects which is recognizable prenatally in a recessive manner.
Topics: Humans; Female; Connectin; Pedigree; Male; Exome Sequencing; Arthrogryposis; Contracture; Mutation; Pregnancy; Fetus; Adult
PubMed: 38937733
DOI: 10.1186/s12920-024-01946-z -
BMC Surgery Jun 2024Although many prognostic factors in neonates with congenital diaphragmatic hernia (CDH) have been described, no consensus thus far has been reached on which and how many...
OBJECTIVES
Although many prognostic factors in neonates with congenital diaphragmatic hernia (CDH) have been described, no consensus thus far has been reached on which and how many factors are involved. The aim of this study is to analyze the association of multiple prenatal and postnatal factors with 1-month mortality of neonates with CDH and to construct a nomogram prediction model based on significant factors.
METHODS
A retrospective analysis of neonates with CDH at our center from 2013 to 2022 was conducted. The primary outcome was 1-month mortality. All study variables were obtained either prenatally or on the first day of life. Risk for 1-month mortality of CDH was quantified by odds ratio (OR) with 95% confidence interval (CI) in multivariable logistic regression models.
RESULTS
After graded multivariable adjustment, six factors were found to be independently and consistently associated with the significant risk of 1-month mortality in neonates with CDH, including gestational age of prenatal diagnosis (OR, 95% CI, P value: 0.845, 0.772 to 0.925, < 0.001), observed-to-expected lung-to-head ratio (0.907, 0.873 to 0.943, < 0.001), liver herniation (3.226, 1.361 to 7.648, 0.008), severity of pulmonary hypertension (6.170, 2.678 to 14.217, < 0.001), diameter of defect (1.560, 1.084 to 2.245, 0.017), and oxygen index (6.298, 3.383 to 11.724, < 0.001). Based on six significant factors identified, a nomogram model was constructed to predict the risk for 1-month mortality in neonates with CDH, and this model had decent prediction accuracy as reflected by the C-index of 94.42%.
CONCLUSIONS
Our findings provide evidence for the association of six preoperational and intraoperative factors with the risk of 1-month mortality in neonates with CDH, and this association was reinforced in a nomogram model.
Topics: Humans; Hernias, Diaphragmatic, Congenital; Nomograms; Infant, Newborn; Retrospective Studies; Female; Male; Prognosis; Gestational Age; Infant Mortality; Risk Factors; Risk Assessment
PubMed: 38937726
DOI: 10.1186/s12893-024-02479-z -
Pediatric Research Jun 2024Prenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging. Despite more precise... (Review)
Review
Prenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging. Despite more precise radiological diagnoses, discussions with expectant parents remain challenging because congenital malformations are associated with a wide spectrum of outcomes. Comprehensive prenatal genetic testing has become an essential tool that improves the accuracy of prognostication. Testing strategies include chromosomal microarray, exome sequencing, and genome sequencing. The diagnostic yield varies depending on the specific malformations, severity of the abnormalities, and multi-organ involvement. The utility of prenatal genetic diagnosis includes increased diagnostic clarity for clinicians and families, informed pregnancy decision-making, neonatal care planning, and reproductive planning. Turnaround time for results of comprehensive genetic testing remains a barrier, especially for parents that are decision-making, although this has improved over time. Uncertainty inherent to many genetic testing results is a challenge. Appropriate genetic counseling is essential for parents to understand the diagnosis and prognosis and to make informed decisions. Recent research has investigated the yield of exome or genome sequencing in structurally normal fetuses, both with non-invasive screening methods and invasive diagnostic testing; the prenatal diagnostic community must evaluate and analyze the significant ethical considerations associated with this practice prior to generalizing its use. IMPACT: Reviews available genetic testing options during the prenatal period in detail. Discusses the impact of prenatal genetic testing on care using case-based examples. Consolidates the current literature on the yield of genetic testing for prenatal diagnosis of congenital malformations.
PubMed: 38937640
DOI: 10.1038/s41390-024-03343-9 -
Journal of Racial and Ethnic Health... Jun 2024Social determinants of health have been used to explore associations with pregnancy outcomes and the birth weight of infants; however, research employing individually...
Social determinants of health have been used to explore associations with pregnancy outcomes and the birth weight of infants; however, research employing individually based social risk measures has not examined associations among underserved populations, including pregnant persons at community health centers. Data were collected from a sample (n = 345) of pregnant persons who sought care at a community health center between January 2019 and December 2020. Social risks of pregnant patients were measured using the PRAPARE tool. First, associations between patients' social risks and trimester in which they initiated care were assessed using ANOVAs, grouping social risk by PRAPARE social determinant domains (persona characteristics, family and home, money and resources, and social and emotional health). ANOVAs were stratified by ethnicity. Next, a multivariate logistic regression examined associations between social measures and seeking care after the first trimester. Patients who sought care in the first trimester reported more financial needs than those who sought care in the second (p = .02) or the third (p = .049). Hispanic patients who sought care in the first trimester reported more monetary needs than those who sought care in the second trimester (p = .048), and non-Hispanic patients who sought care in the first trimester reported greater family and home needs than those who sought care in the second trimester (p = .47). Those who experienced stress were 3.07 times as likely to seek care after the first trimester as those who reported no stress. CHC may reduce social risk among poor and underserved communities by reducing barriers to access to care.
PubMed: 38935333
DOI: 10.1007/s40615-024-02052-7 -
Indian Journal of Public Health Oct 2023A major group of the population, especially antenatal checkup (ANC) mothers and their spouses, people admitted for surgery, and people attending STI clinics, are...
BACKGROUND
A major group of the population, especially antenatal checkup (ANC) mothers and their spouses, people admitted for surgery, and people attending STI clinics, are reluctant to pretest counseling.
OBJECTIVES
This study has been taken up to explore the barriers and possible solutions to improve the utilization of Facility based integrated counseling and testing center (F-ICTC) counseling services.
MATERIALS AND METHODS
Phase 1: In-depth interview and ranking with stakeholders from the F-ICTC center (n = 13) were conducted to identify the barriers to utilization of F-ICTC and solution for the same. Phase 2.
A
Delphi panel with experts (n = 17) was invited through mail to find out the potential solution to improve the utilization of F-ICTC counseling services.
RESULTS
Possible barriers from the stakeholders' perspectives were fear of the disease, violate the privacy, unacceptance, gender bias, fear of social stigma and discrimination, and neglect attached to the disease. At third round of Delphi experts had arrived at a consensus regarding of following possible potential solutions: 1. Those who refuse pretest counseling they should be asked to answer a set of questions(which are usually told during counseling), only those questions not answered correctly by them can be corrected, 2.conducive hospital environment, 3.zero discrimination policy, 4. group counseling for ANC mothers and patients in waiting area of the hospital,5. phone counseling for unwilling patients and relocation of testing center and health education camping.
CONCLUSION
Context-specific proactive evidence-based intervention will help in improving the proper utilization of the F-ICTC center.
Topics: Humans; Delphi Technique; Female; Counseling; Prenatal Care; Male; Pregnancy; Adult; India; Social Stigma; Interviews as Topic; Patient Acceptance of Health Care
PubMed: 38934833
DOI: 10.4103/ijph.ijph_1529_22 -
Indian Journal of Public Health Oct 2023The research paper explores the burden and associated factors of intestinal parasitic infections among pregnant women in Sikkim, India, categorized as neglected tropical...
The research paper explores the burden and associated factors of intestinal parasitic infections among pregnant women in Sikkim, India, categorized as neglected tropical diseases affecting 1.5 billion globally, with higher rates in tropical regions. These infections pose significant health risks, causing anemia, poor maternal-perinatal health, and perpetuating generational undernutrition and recurrent infections. A cross-sectional study of 100 pregnant women in Sikkim aimed to determine the burden of intestinal parasitosis and associated sociodemographic factors. It reported a lower prevalence compared to similar studies, with Giardia Lamblia as the dominant parasite. The study found a significant link between intestinal parasitosis and anemia. In conclusion, the paper recommends routine screening and deworming for pregnant women with low hemoglobin levels, emphasizing health education and awareness about intestinal parasitosis during pregnancy, especially in resource-limited settings. Adherence to India's National Guidelines for Deworming during pregnancy is crucial.
Topics: Humans; Female; India; Pregnancy; Cross-Sectional Studies; Adult; Intestinal Diseases, Parasitic; Young Adult; Tertiary Care Centers; Prevalence; Pregnancy Complications, Parasitic; Socioeconomic Factors; Anemia; Prenatal Care; Adolescent
PubMed: 38934813
DOI: 10.4103/ijph.ijph_1633_22 -
Human Vaccines & Immunotherapeutics Dec 2024This study aimed to assess the attitudes and willingness of pregnant women to receive the influenza vaccine and the factors influencing their decisions. A sample survey...
This study aimed to assess the attitudes and willingness of pregnant women to receive the influenza vaccine and the factors influencing their decisions. A sample survey was conducted among pregnant women receiving prenatal care at various medical institutions in Minhang District, Shanghai, from March to June 2023. The survey included inquiries about demographic information, knowledge, and perception of influenza disease and influenza vaccine. Logistic regression models and chi-square tests were used to analyze the data. 6.9% (78/1125) of participants considered receiving the influenza vaccine during pregnancy. Participants with graduate education or above (OR = 4.632, 95%CI: 1.046-20.517), non-office workers (OR = 2.784, 95%CI: 1.560-4.970), and participants whose spouses were not office workers (OR = 0.518, 95% CI: 0.294-0.913) were significantly associated with high intent to vaccinate. Participants with superior knowledge (>30 points) exhibited greater willingness ( < .001). Participants who viewed post-influenza symptoms as mild had a significantly lower willingness to vaccinate during pregnancy (2.3%), compared to those who disagreed ( = .015). Conversely, those recognizing a heightened risk of hospitalization due to respiratory diseases in pregnant women post-influenza were significantly more inclined to vaccinate during pregnancy (8.8%) ( = .007). Participants recognizing benefits uniformly expressed willingness to receive the influenza vaccine during pregnancy ( < .001), while those perceiving barriers uniformly rejected vaccination ( < .001). Higher education, non-office worker status, and having an office worker spouse correlate with greater willingness to receive the influenza vaccine during pregnancy. Enhanced knowledge and accurate perceptions of influenza and its vaccine influenced willingness. Accumulating knowledge about influenza and its vaccine fosters accurate perceptions. Notably, overall willingness to vaccinate during pregnancy remains low, likely due to safety concerns, and lack of accurate perceptions. Targeted health education, improved communication between healthcare providers and pregnant women, and campaigns highlighting vaccine benefits for mothers and children are essential.
Topics: Humans; Female; Health Knowledge, Attitudes, Practice; Pregnancy; China; Adult; Influenza Vaccines; Influenza, Human; Pregnant Women; Patient Acceptance of Health Care; Young Adult; Surveys and Questionnaires; Vaccination; Pregnancy Complications, Infectious; Prenatal Care; Cross-Sectional Studies; Adolescent
PubMed: 38932738
DOI: 10.1080/21645515.2024.2368944 -
Pediatrics Jun 2024From 2020 to 2023, South Dakota witnessed a substantial increase in cases of congenital syphilis (CS), with the highest rates identified in rural and Native American...
From 2020 to 2023, South Dakota witnessed a substantial increase in cases of congenital syphilis (CS), with the highest rates identified in rural and Native American (NA) communities. Here, we discuss 3 severe cases of CS in premature infants born to NA individuals and communities in South Dakota with poor access to prenatal care. The infants in these 3 cases presented with varying clinical conditions, including respiratory failure, persistent pulmonary hypertension of the newborn, severe direct hyperbilirubinemia, feeding intolerance, and necrotizing enterocolitis. Lack of prenatal care and other systemic health disparities likely contributed to the increased disease burden. For NA communities, rurality, limited resources, systemic racism, historical trauma, and lack of trust in medical institutions likely contribute to inadequate prenatal care. All 3 of these cases also occurred in pregnant people with a present or history of substance use disorders, which may have led to further hesitancy to seek care because of fear of prosecution. To combat the rising number of syphilis and CS cases, we advocate for new and continued outreach that provides education about and testing for sexually transmitted diseases to NA and rural populations, increased care coordination, the integration of point-of-care testing and treatment strategies in lower resource centers, and legislative allocation of additional resources to engage pregnant people with or at risk for substance use disorders.
PubMed: 38932726
DOI: 10.1542/peds.2023-063823 -
Journal of Clinical Medicine Jun 2024: This study evaluated early childhood comorbidities of cerebral palsy (CP) in low birth weight (LBW) children and assessed the impact of maternal bio-psychosocial...
The Prevalence and Risk Analysis of Cerebral Palsy and Other Neuro-Psychological Comorbidities in Children with Low Birth Weight in Taiwan: A Nationwide Population-Based Cohort Study.
: This study evaluated early childhood comorbidities of cerebral palsy (CP) in low birth weight (LBW) children and assessed the impact of maternal bio-psychosocial factors on CP risk in preterm infants of varying birth weights (BWs). : Data from 15,181 preterm infants (2009-2013) and 151,810 controls were analyzed using Taiwan's National Health Insurance Research Database. CP prevalence and LBW-associated comorbidities were examined, and odds ratios (ORs) were calculated. : This study confirmed increasing prematurity and LBW rates in Taiwan, with LBW infants showing higher CP prevalence. Significant maternal risk factors included age extremes (<20 and >40 years). LBW infants exhibited higher risks for respiratory, circulatory, nervous system, and psycho-developmental comorbidities compared with controls, with the lowest BW having even higher ORs. Maternal factors such as family income, the number of hospital admissions, and length of hospital stay were remarkably correlated with BW and subsequent complications. Each additional gestational week crucially reduced the risk of complications in premature infants. : LBW infants are at a higher risk for CP and various comorbidities, with maternal bio-psychosocial factors playing a critical role. Addressing these factors in prenatal care and interventions is essential to improve outcomes for premature infants.
PubMed: 38930008
DOI: 10.3390/jcm13123480