Effect of Model of Neonatal Care on Neurodevelopment at the 18 Month Follow-Up in Moderate and Late Preterm Infants.

Preterm birth, even for moderate or late preterm infants (MLPIs), is associated with longer-term developmental challenges. Family Integrated Care (FICare) models of care, like Alberta FICare, aim to improve outcomes by integrating parents into neonatal care during hospitalization. This follow-up study examined the association between models of care (Alberta FICare versus standard care) and risk of child developmental delay at 18 months corrected age (CA) and explored the influences of maternal psychosocial distress.

Proposal of a Machine Learning Based Prognostic Score for Ruptured Microsurgically Treated Anterior Communicating Artery Aneurysms.

Aneurysmal subarachnoid hemorrhage (aSAH) carries significant mortality and disability rates, with rebleeding posing a grave risk, particularly in anterior communicating artery (AcoA) aneurysms. This retrospective study aims to analyze preoperative and intraoperative variables of patients with ruptured AcoA aneurysms, evaluating the association of these variables with patient outcomes using machine learning techniques, proposing a prognostic score. : A retrospective study was conducted on 50 patients who underwent microsurgical clipping for a ruptured AcoA aneurysm at San Giovanni Bosco Hospital, Turin, Italy.

Blood Biomarkers as a Non-Invasive Method for the Assessment of the State of the Fontan Circulation.

The Fontan operation has become the primary palliative treatment for patients with a functionally univentricular heart. The population of patients with Fontan circulation is constantly growing and aging. As the number of Fontan patients surviving into adulthood increases, there is a clear need for research on how best to follow these patients and manage their complications.

Social Vulnerability and Pregnancy Option Counseling in the Setting of Periviable Delivery.

: According to the American Academy of Pediatrics and the American College of Obstetricians and Gynecologists, pregnant people facing periviable delivery should be counseled on expected neonatal outcomes and available pregnancy options. The objective of this study is to evaluate if rates of neonatology consultation and pregnancy option counseling for those facing periviable delivery differ based on social vulnerability factors or Social Vulnerability Index (SVI). : This was a retrospective cohort study of patients who delivered at 22 0/7 weeks to 25 6/7 weeks of gestation at two academic medical centers with level III or IV neonatal intensive care units from 2019 to 2022.

Maternal and Fetal Complications in Pregnant Women with Neurofibromatosis Type 1: Literature Review and Two Case Reports.

Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.

Maternal Serum Catestatin Levels in Gestational Diabetes Mellitus: A Potential Biomarker for Risk Assessment and Diagnosis.

Gestational diabetes mellitus (GDM) presents significant risks for both maternal and neonatal health, affecting fetal growth and increasing the likelihood of future diabetes mellitus (DM) development in affected women. The dysregulation of metabolic biomarkers, including catestatin, has been implicated in GDM pathophysiology. However, the clinical significance of catestatin in GDM remains poorly understood, particularly in the context of different therapeutic approaches.

Smoking Status in Pregnancy: A Retrospective Analysis in Northern Greece.

Smoking has adverse effects on both maternal and fetal health and its incidence varies among different countries. The aim of this study was to identify the prevalence of smoking during pregnancy and to identify factors associated with smoking. This was a retrospective study conducted at the Third Department of Obstetrics and Gynecology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece, during an 11-year period (2013-2023).

The Effect of COVID-19 on Neonatal Outcomes in a Community Hospital.

: Despite considerable research on pregnancy outcomes affected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, the consequences for infants exposed to the virus in utero remain unclear. : A retrospective cohort study was conducted, encompassing 392 mother-infant pairs delivered between April 2020 and July 2021 at a community hospital network in northeastern Pennsylvania, USA. Of these, 198 mothers had a confirmed SARS-CoV-2 infection during pregnancy, while 194 did not.

Transdiagnostic Predictors of Health-Related Quality of Life in Children with Autism and Epilepsy: A Cross-Sectional Study.

: Our understanding of the transdiagnostic factors that influence health-related quality of life (HRQOL) in individuals with neurodivergent conditions is very sparse and highly siloed by diagnosis labels. Research on transdiagnostic predictors of HRQOL across neurodevelopmental conditions is needed to enable care models that address shared needs of neurodivergent individuals beyond diagnostic boundaries. Our objective was to identify transdiagnostic factors associated with HRQOL in children with autism, epilepsy, or comorbid autism/epilepsy.

Perinatal and Delivery Outcomes Following Amniocentesis: A Case-Control Study in the Polish Population.

Amniocentesis is a widely used invasive prenatal diagnostic procedure, recognized for its high sensitivity and low risk of complications. This study aims to evaluate the association between amniocentesis and pregnancy outcomes, such as miscarriage, preterm rupture of membranes (PROM), and preterm birth, as well as perinatal outcomes. A case-control study was conducted at the Regional Hospital in Kielce, Poland, from 2016 to 2022, involving 1834 patients, 225 of whom underwent amniocentesis, while 1609 did not receive any invasive diagnostics.

Metformin for Treating Gestational Diabetes: What Have We Learned During the Last Two Decades? A Systematic Review.

There has been accumulating evidence over the past two decades that metformin can be an effective treatment for gestational diabetes mellitus (GDM) in women whose diet and exercise fail to attain optimal glycemic control. The objective of this review was to comprehensively analyze all studies investigating the effectiveness of metformin compared to insulin and other drugs utilized for the treatment of GDM. After a comprehensive literature review based on PRISMA 2020, 35 studies were included after a selection process utilizing predetermined inclusion and exclusion criteria.

Human Defence Factors in Different Gestational Week Placenta: A Pilot Study.

Background: Numerous studies have shown the presence of multiple defence factors in placental tissue, although their role is partially understood; therefore, the aim of this study was to evaluate the expression of nuclear factor-kappa B (NF-κB); human beta-defensin 2, 3, and 4 (HBD-2,3,4); cathelicidine (LL-37); heat shock protein 60 (HSP60); and interleukin 10 (IL-10) in dissimilar gestational week placental tissue and display correlations between immunoreactive cells.

Methods: A total of 15 human placental tissue samples were acquired from mothers with different gestational weeks: 28, 31, and 40. Routine staining and immunohistochemistry for the samples were executed.

Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of , , and in Long-Lasting Olfactory Dysfunction.

COVID-19-related persistent olfactory dysfunction (OD) presents remarkable interindividual differences, and little is known about the host genetic factors that are involved in its etiopathogenesis. The goal of this study was to explore the genetic factors underpinning COVID-19-related OD through the analysis of Whole Genome Sequencing data of 153 affected subjects, focusing on genes involved in antiviral response regulation. An innovative approach was developed, namely the assessment of the association between a "gene score", defined as the ratio of the number of homozygous alternative variants within the gene to its length, and participants' olfactory function.

Effect of Aerobic Exercise on Blood Glucose Among Those with Prediabetes: A Systematic Review and Meta-Analysis.

Prediabetes, a state between normoglycemia and diabetes, is increasingly affecting population health; thus, it should not be overlooked. This systematic review and meta-analysis aimed to explore the efficacy of aerobic exercise on blood glucose indicators among those with prediabetes. Five databases, including PubMed, Embase, the Cochrane Library, Web of Science, and CINAHL, were searched up to September 2024 to identify randomized controlled trials measuring the effect of aerobic exercise on blood glucose levels among individuals with prediabetes.

De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

Alcohol Consumption and Autoimmune Diseases.

Alcohol is the second-most misused substance after tobacco. It has been identified as a causal factor in more than 200 diseases and 5.3% of all deaths and is associated with significant behavioral, social, and economic difficulties.

A Review of Immunological Evaluation of Patients with Recurrent Spontaneous Abortion (RSA).

In approximately half of the recurrent spontaneous abortion (RSA) cases, the underlying cause is unknown. However, most unexplained miscarriages are thought to be linked to immune dysfunction. This review summarizes the current evidence regarding the immunological evaluations of patients with RSA, with potential implications for clinical research.

-like Transposon Elements Inserted in Cause Male Sterility in Maize.

Using male sterile (MS) lines instead of normal inbred maternal lines in hybrid seed production can increase the yield and quality with lower production costs. Therefore, developing a new MS germplasm is essential for maize hybrid seed production in the future. Here, we reported a male sterility gene , cloned from a newly found MS mutant .

Application of the OSNA Technique (One-Step Nucleic Acid Amplification Test) in Breast Cancer.

Breast cancer is one of the most common cancers diagnosed in both countries with high and low levels of socio-academic development. Routine, regular screening tests being introduced in an increasing number of countries make it possible to detect breast cancer at an early stage of development, as a result of which the trend in the incidence of metastatic breast cancer has been decreasing in recent years. The latest guidelines for the treatment of this tumor do not recommend axillary dissection, which limits the need for rapid assessment of the nodes during surgery.

Orogeny and High Pollen Flow as Driving Forces for High Genetic Diversity of Endangered (Franch.) Pax Endemic to China.

(Franch.) Pax is an endangered species endemic to China, mainly scattered in the Qinling-Daba Mountains. The genetic diversity of 17 natural populations were analyzed by nuclear DNA (nDNA) and chloroplast DNA (cpDNA) to explore the driving forces for its microevolution.

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.

Differences in Characteristics of Peripartum Patients Who Did and Did Not Require an Upgrade to the Intensive Care Unit: A Propensity Score Matching Study.

This study sought to identify predictors for peripartum patients admitted to non-intensive care wards who later upgraded to the Intensive Care Unit (ICU). This was a retrospective observational study of patients admitted to the Maternal Fetal Ward between 01/2017 and 12/2022, who later upgraded to the ICU. Upgraded patients were 1:1 propensity score matched with those who remained on the Maternal Fetal Ward (control).

Congenital Bullous Syphilis: A Case Report from Italy and a Comprehensive Literature Review.

Congenital syphilis remains a significant global health concern, with severe morbidity and mortality if undiagnosed and untreated. Although many infants appear asymptomatic at birth, subtle clinical signs-including bullous lesions (congenital bullous syphilis, also known as pemphigus syphiliticus)-may facilitate early detection. Recognizing this rare manifestation is crucial for timely intervention, reducing serious outcomes.

Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.