causes of prematurity

Neuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative disorders of early life in humans. Disease-causing variants have been described for 13 different NCL genes. In this study, a refined pathological characterization of a female rabbit with progressive neurological signs reminiscent of NCL was performed. Cytoplasmic pigment present in neurons was weakly positive with Sudan black B and autofluorescent. Immunohistology revealed astrogliosis, microgliosis and axonal degeneration. During the subsequent genetic investigation, the genome of the affected rabbit was sequenced and examined for private variants in NCL candidate genes...

INTRODUCTION: Owing to legislative changes and regional disparities, knowledge of firearm death profile in Brazil is limited, creating a complex situation that requires data to improve the strategies to reduce the burden of this health problem. The aim of this study was to describe the burden of firearm injuries and regional disparities in Brazil, including the characterization of mortality profiles specifically in the year 2019. METHOD: The researchers extracted secondary data from the Institute of Health Metrics and Evaluation, from Global Burden of Disease study, including information on new cases and deaths caused by firearms...

Transcription enhancers are genomic sequences regulating common and tissue-specific genes and their disruption can contribute to human disease development and progression. Klotho, a sexually dimorphic gene specifically expressed in kidney, is well-linked to kidney dysfunction and its deletion from the mouse genome leads to premature aging and death. However, the sexually dimorphic regulation of Klotho is not understood. Here, we characterize two candidate Klotho enhancers using H3K27ac epigenetic marks and transcription factor binding and investigate their functions, individually and combined, through CRISPR-Cas9 genome engineering...

BACKGROUND: A peripherally inserted central catheter (PICC) is an important way to supply long-term intravenous infusion or parenteral nutrition for premature infants, especially very low birth weight (VLBW) infants. PICC removal difficulties occur mostly during use. It is rare to have difficulty removing a PICC due to reverse folding during catheterization. We presented a case to explore the nursing experience of caring for a VLBW infant with difficult PICC removal. CASE DESCRIPTION: A 30-week, 1,240-g infant, suffered a difficult PICC removal during the catheterization adjustment process...

Managing acute abdomen in very low birth weight (VLBW) and premature infants presents a diagnostic challenge, often necessitating a thorough assessment to discern underlying causes. Umbilical venous catheters (UVCs), commonly used in neonatal intensive care, are essential but not without risks. A 29-week premature male infant, born to a 23-year-old mother, was referred to our clinic on the 16th day of life with a suspected diagnosis of necrotizing enterocolitis (NEC). The infant had spent the first day intubated and received non-invasive respiratory support for 15 days...

PURPOSE: In this report, we aim to present an unusual reappearance of hyaloidal artery remnant with atypical localization during the follow-up of an infant who underwent indirect laser photocoagulation for type 1 ROP. METHODS: Retrospective case report. RESULTS: We report a case of reappearance of an eccentrically located hyaloidal stalk in the macular area during the follow-up period, 2 weeks after laser photocoagulation for type 1 ROP subsequently progressed to cause foveal distortion, which is successfully removed with a lens-sparing vitrectomy...

BACKGROUND: Retinopathy of prematurity (ROP), which often presents with bronchopulmonary dysplasia (BPD), is among the most common morbidities affecting extremely premature infants and is a leading cause of severe vision impairment in children worldwide. Activations of the inflammasome cascade and microglia have been implicated in playing a role in the development of both ROP and BPD. Apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) is pivotal in inflammasome assembly...

OBJECTIVE: To provide a comprehensive overview of predisposing factors and clinical-microbiological profile of neonatal corneal ulcer. METHODS: The literature search was undertaken in PubMed, SCOPUS, Embase, Web of Science, and Google Scholar databases on published papers from inception to May 31, 2023. The included articles were independently assessed for methodological quality using a Joanna Briggs Institute checklist. Weighted analysis was utilized, assigning a weight of one to each case report and a weight equivalent to the sample size for the case series/original studies...

BACKGROUND:  Stillbirths are a global public health challenge, predominantly affecting low- and middle-income countries. The causes of most stillbirths are preventable. OBJECTIVES:  this study reviewed perinatal clinical audit data from Kgapane Hospital over a 4-year period with a special focus on the factors associated with stillbirths. METHODS:  File audits were done for all stillbirths occurring at Kgapane Hospital and its catchment area from 2018 to 2021...

AUDIENCE: The target audiences for this team-based learning (TBL) activity are resident physicians and medical students. INTRODUCTION: According to the Centers for Disease Control and Prevention (CDC), nearly half of the adults in the United States have hypertension,1 which is a leading cause of cardiovascular disease and premature death.2 In extreme cases, patients may present in hypertensive emergencies, defined as an acute, marked elevation of systolic blood pressure >180mmHg or diastolic blood pressure >120mmHg with evidence of organ dysfunction...

OBJECTIVE: The study set to explore the mortality causes across six years and identify potential mortality determinates at a population level in Malta. STUDY DESIGN AND METHODS: A longitudinal follow-up of a Malta based cross-sectional national representative study across 6 years (2014-2020) was carried out. The study population was cross-linked to the mortality register and causes of death obtained. Population characteristics gathered during initial examination were analysed through univariant and multivariant logistic regressions...

Background The most common preventive cause of premature labour is ascending infections. This study was conducted to evaluate the association between bacterial vaginosis (BV) and preterm labour in antenatal women and determine the significance of using the Amsel criteria to screen for BV. Methods This was a hospital-based cross-sectional study conducted among 100 antenatal mothers in the second trimester attending the antenatal OPD at a tertiary care hospital in Chennai from October 2019 to September 2021 after obtaining clearance from the institutional ethics committee and written informed consent from the study participants...

BACKGROUND: Ischemic Heart Disease (IHD) is a leading cause of global mortality, including in the United States. Understanding the burden of IHD in the United States is crucial for informed decision-making and targeted interventions aimed at reducing morbidity and mortality associated with this leading cause of death. This study aimed to understand the burden of IHD, identify gender disparities and risk factors, explore the relationship between socioeconomic growth and IHD, and analyze risk factor distribution across the states of the United States...

AIM: To assess the presence of mitochondrial (mt) DNA somatic mutations, determine the relationship between clinicopathological characteristics and mutations, and assess the survival outcomes in Malay patients with primary brain tumors. METHODS: The study enrolled 54 patients with primary brain tumors. DNA extracted from paired tissue and blood samples was subjected to Sanger sequencing to identify alterations in the entire mtDNA. The associations between clinicopathological characteristics and mutations were evaluated...

Preterm birth (PTB) is a complex syndrome traditionally defined by a single parameter, namely, gestational age at birth (ie, ˂37 weeks). This approach has limitations for clinical usefulness and may explain the lack of progress in identifying cause-specific effective interventions. The authors offer a framework for a functional taxonomy of PTB based on (1) conceptual principles established a priori; (2) known etiologic factors; (3) specific, prospectively identified obstetric and neonatal clinical phenotypes; and (4) postnatal follow-up of growth and development up to 2 years of age...

Preterm birth (PTB) and its associated morbidities are a leading cause of infant mortality and morbidity. Accurate predictive models and a better biological understanding of PTB-associated morbidities are critical in reducing their adverse effects. Increasing availability of multimodal high-dimensional data sets with concurrent advances in artificial intelligence (AI) have created a rich opportunity to gain novel insights into PTB, a clinically complex and multifactorial disease. Here, the authors review the use of AI to analyze 3 modes of data: electronic health records, biological omics, and social determinants of health metrics...

Preterm birth (PTB) is a leading cause of morbidity and mortality in children aged under 5 years globally, especially in low-resource settings. It remains a challenge in many low-income and middle-income countries to accurately measure the true burden of PTB due to limited availability of accurate measures of gestational age (GA), first trimester ultrasound dating being the gold standard. Metabolomics biomarkers are a promising area of research that could provide tools for both early identification of high-risk pregnancies and for the estimation of GA and preterm status of newborns postnatally...

Preterm birth (PTB) is the leading cause of infant mortality and morbidity. For several decades, extensive epidemiologic and genetic studies have highlighted the significant contribution of maternal and offspring genetic factors to PTB. This review discusses the challenges inherent in conventional genomic analyses of PTB and underscores the importance of adopting nonconventional approaches, such as analyzing the mother-child pair as a single analytical unit, to disentangle the intertwined maternal and fetal genetic influences...

Preterm birth (PTB) is the leading cause of morbidity and mortality in children globally, yet its prevalence has been difficult to accurately estimate due to unreliable methods of gestational age dating, heterogeneity in counting, and insufficient data. The estimated global PTB rate in 2020 was 9.9% (95% confidence interval: 9.1, 11.2), which reflects no significant change from 2010, and 81% of prematurity-related deaths occurred in Africa and Asia. PTB prevalence in the United States in 2021 was 10.5%, yet with concerning racial disparities...

Down syndrome (DS) is the most common condition with intellectual disability and is caused by trisomy of Homo sapiens chromosome 21 (HSA21). The increased dosage of genes on HSA21 is associated with early neurodevelopmental changes and subsequently at adult age with the development of Alzheimer-like cognitive decline. However, the molecular mechanisms promoting brain pathology along aging are still missing. The novel Ts66Yah model represents an evolution of the Ts65Dn, used in characterizing the progression of brain degeneration, and it manifest phenotypes closer to human DS condition...