Enhancing thalassemia carrier detection: Advancing genetic screening strategies in prenatal care.

The carrier rates of alpha- and beta-thalassemia are notably high in certain regions. Current screening methods using traditional mean corpuscular volume (MCV) measurements can prevent the birth of severe cases of thalassemia, but often miss carriers of mild forms, potentially leading to hemoglobin H disease or thalassemia in their offspring. This study aimed to demonstrate that genetic carrier screening using next-generation sequencing (NGS) enhances the detection of silent thalassemia carriers and explores its clinical feasibility for large-scale population screening to illustrate the prevalence and spectrum of thalassemia in Taiwan.

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Mutations in filaggrin (FLG), the gene that codes for the skin barrier protein, have been shown to be associated with atopic dermatitis (AD). The objectives of this study were to determine the effects of genetic counseling and parental education on infants at a high risk of AD. We enrolled 7521 newborns in Taiwan from January 1, 2016, to March 30, 2020, and all of them received genetic testing encompassing 20 known FLG mutations.

Long non-coding RNA promotes the proliferation of ovarian granulosa cells and steroid hormone production upregulation of .

Granulosa cells (GCs) are essential for follicular development, and long non-coding RNAs (LncRNAs) are known to support the maintenance of this process and hormone synthesis in mammals. Nevertheless, the regulatory roles of these lncRNAs within sheep follicular GCs remain largely unexplored. This study delved into the influence of a , on the proliferation and steroid hormone synthesis of sheep ovarian GCs and the associated target genes .

Transport Anisotropy in One-Dimensional Graphene Superlattice in the High Kronig-Penney Potential Limit.

One-dimensional graphene superlattice subjected to strong Kronig-Penney (KP) potential is promising for achieving the electron-lensing effect, while previous studies utilizing the modulated dielectric gates can only yield a moderate, spatially dispersed potential profile. Here, we realize high KP potential modulation of graphene via nanoscale ferroelectric domain gating. Graphene transistors are fabricated on PbZr_{0.

Sex-Specific Impact of Fkbp5 on Hippocampal Response to Acute Alcohol Injection: Involvement in Alterations of Metabolism-Related Pathways.

High levels of alcohol intake alter brain gene expression and can produce long-lasting effects. FK506-binding protein 51 (FKBP51) encoded by is a physical and cellular stress response gene and has been associated with alcohol consumption and withdrawal severity. has been previously linked to neurite outgrowth and hippocampal morphology, sex differences in stress response, and epigenetic modification.

The challenging presentation of gastric cancer during pregnancy with krukenberg tumor: a case report.

Unlabelled: The incidence of ovarian tumors in pregnancy is around 0.05%. Primary ovarian cancer and metastatic malignancy are rare in pregnancy, and women often delayed in diagnosis.

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.

Background: The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling.

Methods: We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.

Comprehensive Analysis of Differentially Expressed CircRNAs in the Ovaries of Low- and High-Fertility Sheep.

CircRNAs are essential in regulating follicle growth and development and the female reproductive system at multiple levels. However, the molecular mechanism by which circRNAs regulate reproduction in sheep is unclear and requires further exploration. In this study, RNA sequencing was performed to reveal the circRNA expression profiles in the ovaries of Cele black sheep and Hetian sheep during estrus.

One-step generation of a conditional allele in mice using a short artificial intron.

Despite tremendous advances in genome editing technologies, generation of conditional alleles in mice has remained challenging. Recent studies in cells have successfully made use of short artificial introns to engineer conditional alleles. The approach consists of inserting a small cassette within an exon of a gene using CRISPR-Cas9 technology.

Identification of hub genes associated with follicle development in multiple births sheep by WGCNA.

Sheep exhibit a distinct estrous cycle that includes four different phases: proestrus, estrus, late estrus, and luteal phase. As the estrous cycle repeats, follicular development regularly alternates. We thus investigated ovarian transcriptome data from each of the four phases using weighted gene co-expression network analysis (WGCNA) to identify modules, pathways, and genes essential to follicle growth and development.

Effects of simulated acid rain on rhizosphere microorganisms of invasive and native .

Acid rain not only has serious harm to the environment, but also has the same threat to plants, but the invasive plant still grows well compared to the native plant under acid rain stress. However, the underlying mechanism of resistance to the acid rain environment in invasive remains unclear. In the current study, we comparatively analyzed the plant physiological characteristics, soil physicochemical properties, and rhizosphere microbial communities of invasive .

The correlation of forkhead box protein M1 (FOXM1) with gestational diabetes mellitus in maternal peripheral blood and neonatal umbilical cord blood.

Objective: The transcription activator FOXM1 was found to be essential for beta cell expansion and glucose homeostasis during pregnancy in a mouse model. We assumed that the mechanism would be similar in humans. Thus, we aimed to determine the correlation, if any, between FOXM1 and gestational diabetes mellitus in pregnant women.

Dissecting protein function in vivo: Engineering allelic series in mice using CRISPR-Cas9 technology.

Allelic series are extremely valuable genetic tools to study gene function and identify essential structural features of gene products. In mice, allelic series have been engineered using conventional gene targeting in embryonic stem cells or chemical mutagenesis. While these approaches have provided valuable information about the function of genes, they remain cumbersome.

Antibiotic choice for the management of preterm premature rupture of membranes in Taiwanese women.

Background: Preterm premature rupture of membranes (PPROM) is one of the most common causes of preterm birth. Antibiotic treatment is recommended to prolong the pregnancy course and reduce fetal morbidity in women with PPROM. However, the guidelines for antibiotic selection are based on studies done years ago, mostly in Western countries, which may not reflect the geographic, temporal, and ethnic variation in microbial colonization and infection in other parts of the world.

Genome-wide analyses reveal the detrimental impacts of SARS-CoV-2 viral gene Orf9c on human pluripotent stem cell-derived cardiomyocytes.

Patients with coronavirus disease 2019 (COVID-19) commonly have manifestations of heart disease. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genome encodes 27 proteins. Currently, SARS-CoV-2 gene-induced abnormalities of human heart muscle cells remain elusive.

Uncontrolled before-after study adding carbetocin in addition to oxytocin decreases blood loss for cesarean section in twin pregnancies.

Purpose: To evaluate the effectiveness of adding carbetocin to regular uterotonic agents for prevention of postpartum hemorrhage (PPH) after cesarean section for twin pregnancies.

Methods: This is a retrospective uncontrolled before-after study done in a tertiary center in Taiwan, 2010-2017. Women with twin pregnancies that underwent cesarean section were enrolled.

Prolapsed epiploica of bowel after robotic hysterectomy: A case report.

Purpose: Vaginal cuff dehiscence with evisceration was defined as expulsion of intraperitoneal organs through the separated incision. Prolapsed epiploica of the colon is a rare complication after hysterectomy. The most common organ to prolapsed out from the dehiscence vaginal cuff is terminal ileum.

Polar coupling enabled nonlinear optical filtering at MoS/ferroelectric heterointerfaces.

Complex oxide heterointerfaces and van der Waals heterostructures present two versatile but intrinsically different platforms for exploring emergent quantum phenomena and designing new functionalities. The rich opportunity offered by the synergy between these two classes of materials, however, is yet to be charted. Here, we report an unconventional nonlinear optical filtering effect resulting from the interfacial polar alignment between monolayer MoS and a neighboring ferroelectric oxide thin film.

BMP10 preserves cardiac function through its dual activation of SMAD-mediated and STAT3-mediated pathways.

Bone morphogenetic protein 10 (BMP10) is a cardiac peptide growth factor belonging to the transforming growth factor β superfamily that critically controls cardiovascular development, growth, and maturation. It has been shown that BMP10 elicits its intracellular signaling through a receptor complex of activin receptor-like kinase 1 with morphogenetic protein receptor type II or activin receptor type 2A. Previously, we generated and characterized a transgenic mouse line expressing BMP10 from the α-myosin heavy chain gene promoter and found that these mice have normal cardiac hypertrophic responses to both physiological and pathological stimuli.

Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation.

Background: CRISPR-Cas9 gene-editing technology has facilitated the generation of knockout mice, providing an alternative to cumbersome and time-consuming traditional embryonic stem cell-based methods. An earlier study reported up to 16% efficiency in generating conditional knockout (cKO or floxed) alleles by microinjection of 2 single guide RNAs (sgRNA) and 2 single-stranded oligonucleotides as donors (referred herein as "two-donor floxing" method).

Results: We re-evaluate the two-donor method from a consortium of 20 laboratories across the world.

The Alexipharmic Mechanisms of Five Licorice Ingredients Involved in CYP450 and Nrf2 Pathways in Paraquat-Induced Mice Acute Lung Injury.

Oxidative stress is an important mechanism in acute lung injury (ALI) induced by paraquat (PQ), one of the most widely used herbicides in developing countries. In clinical prophylaxis and treatment, licorice is a widely used herbal medicine in China due to its strong alexipharmic characteristics. However, the corresponding biochemical mechanism of antioxidation and detoxification enzymes induced by licorice's ingredients is still not fully demonstrated.