Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Background: Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study.

Methods: Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping.

[Discussion on the status quo and solutions to the prevention and control of birth defects among primary obstetricians and gynecologists in the era of molecular genetic testing].

Birth defects are an important factor for the quality of newborn population. With the development of molecular genetic technology, an increasing number of genetic disorders leading to birth defects can now be detected. The lack of the knowledge for the basics and clinical applications of molecular genetic techniques have emerged as a shortcoming for primary care physicians who have formed the first tier prevention for birth defects.

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.

Background: The 16p11.2 deletion is one of the most common genetic aetiologies of neurodevelopmental disorders (NDDs). The prenatal phenotype of 16p11.

Nerve Defect Treatment with a Capping Hydroxyethyl Cellulose/Soy Protein Isolate Sponge Conduit for Painful Neuroma Prevention.

Painful neuroma, as one of the complications of nerve injury from disease or trauma, results in instinctive neuropathic pain that adversely affects a patient's quality of life. To intercept neuroma development, capping strategies have been performed as effective therapies. Nonetheless, the most appropriate biocompatible material to shield the nerves is an urgent clinical requirement.

The risk factors of procedure-related complications after amniocentesis in twin pregnancies: a retrospective analysis.

Background: There is an increasing demand for prenatal diagnostic testing in twin pregnancies, however, anecdotally there is a higher incidence of procedure-related complications after amniocentesis than that in singleton pregnancies. There is a paucity of data regarding risk factors of amniocentesis in twin pregnancies.

Methods: Women with twin pregnancies who underwent amniocentesis between January 2016 and December 2020 were enrolled in this retrospective study.

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss.

Chromosomal abnormalities are a major cause of early pregnancy loss. However, models synthesizing existing genetic technologies to improve pregnancy outcomes are lacking. We aim to provide an integrated laboratory algorithm for the genetic etiology of couples who experienced pregnancy loss.

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples.

We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid.

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Background: X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization.

Results: This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring the clinical genetic effects in patients with X/Y translocations were reviewed.

[Analysis of Pregnancy Outcomes After Fetal Reduction in Monochorionic, Dichorionic, and Trichorionic Triplet Pregnancies].

Objective: To compare the pregnancy outcomes of pregnancy outcomes after selective fetal reduction treatment in monochorionic, dichorionic, and trichorionic triplet pregnancies.

Methods: We conducted a retrospective analysis of the clinical data of 118 pregnant women carrying triplets. All subjects underwent regular prenatal check-ups and were admitted for delivery at West China Second University Hospital, Sichuan University between January 1, 2012 and January 31, 2021.

Characteristic quantum phase in Heisenberg antiferromagnetic chain with exchange and single-ion anisotropies.

We investigate the ground-state phase diagram for a spin-one quantum Heisenberg antiferromagnetic chain with exchange and single-ion anisotropies in an external magnetic field by using the infinite time-evolving block decimation algorithm to compute the ground-state fidelity per lattice site. We detect all phase boundaries solely by computing the ground-state fidelity per lattice site, with the prescription that a phase transition point is attributed to a pinch point on the ground-state fidelity surface. Furthermore, the results indicate that a magnetization plateau corresponds to a fidelity plateau on the ground-state fidelity surface, thus offering an alternative route for investigating the magnetization processes of quantum many-body spin systems.

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with deletion.

Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of the lower extremities with or without XY sex reversal. Diagnosis using ultrasonography is most often made in the latter half of pregnancy. Intragenic heterozygous mutations in SOX9 are responsible for most cases of CD.

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.

For decades, conventional karyotyping analysis has been the gold standard for detecting chromosomal abnormalities during prenatal diagnosis. With the development of molecular cytogenetic methods, this situation has dramatically changed. Chromosomal microarray analysis (CMA), a method of genome-wide detection with high resolution, has been recommended as a first-tier test for prenatal diagnosis, especially for fetuses with structural abnormalities.

The Potential Protective Role of Aspirin Against Migraine in Pregnant Women.

Females are highly predisposed to the occurrence of migraine, a recurrent neurovascular headache disorder. Although migraine improves or disappears during pregnancy, a significant association between migraine and hypertension (i.e.

Down-regulated long non-coding RNA-ATB in preeclampsia and its effect on suppressing migration, proliferation, and tube formation of trophoblast cells.

Preeclampsia is a pregnancy-specific syndrome and is one of the main causes of maternal, fetal, and neonatal morbidity and mortality. Inadequate trophoblast invasion and failure of uterine spiral artery remodeling exert a major role in the development of preeclampsia, especially the early-onset one. LncRNA-ATB is verified to be aberrantly expressed in many cancers and promote the invasion-metastasis and proliferation cascades.

Association between preeclampsia and the CXC chemokine family (Review).

Preeclampsia is a major cause of maternal and perinatal mortality and morbidity, characterized by gestational hypertension, proteinuria, systemic endothelial cell activation and an exaggerated inflammatory response. The precise cause of preeclampsia is not currently known; however, it is widely accepted that the pathogenesis of preeclampsia involves inadequate trophoblast invasion, leading to generalized endothelial dysfunction and an exaggerated inflammatory response. Chemokines are a superfamily of structurally similar proteins that mediate cell recruitment, angiogenesis, immunity and stem cell trafficking.

Role of osteoprotegerin gene variants in early-onset severe pre-eclampsia.

Aim: The aim of this study was to detect the role of osteoprotegerin (OPG) gene variants in early-onset severe pre-eclampsia.

Material And Methods: The associations of 163A/G (rs3102735) and 950T/C (rs2073617) polymorphisms of OPG with pre-eclampsia (60 cases of early-onset severe pre-eclampsia and 91 cases of late-onset pre-eclampsia), as well as with the clinical manifestations of individuals, were evaluated.

Results: Data showed lower frequencies of TC and TC + CC genotypes and C allele of 950T/C in the early-onset group than those of the control and late-onset groups (P = 0.

Prostasin gene polymorphism at rs12597511 is associated with severe preeclampsia in Chinese Han women.

Background: Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease associated with shallow invasion of trophoblast cells and inadequate spiral artery remodeling. Trophoblast and tumor cells have similar invasion mechanism. Prostasin is closely related to tumor development, invasion and metastasis and influences blood pressure through activating epithelial sodium channel.

Plasma concentrations of sAxl are associated with severe preeclampsia.

Objective: Preeclampsia, a multisystem disorder unique to pregnancy, is a major cause of maternal and perinatal mortality and morbidity. Inadequate trophoblast invasion and vascular dysfunction are believed to be involved in preeclampsia. Axl, which interacts with its ligand Gas6, known to regulate cell migration, adhesion, and vascular angiogenesis or homeostasis and vascular network formation, may be implicated in preeclampsia, as preeclampsia is a specific vascular disease.

Enhanced oxidation stability of quasi core-shell alloyed CdSeS quantum dots prepared through aqueous microwave synthesis technique.

Quasi core shell alloyed CdSeS quantum dots (QDs) have been prepared through a facile aqueous-phase route employing microwave irradiation technique. The optical spectroscopy and structure characterization evidenced the quasi core shell alloyed structures of CdSeS QDs. The X-ray diffraction patterns of the obtained CdSeS QDs displayed peak positions very close to those of bulk cubic CdS crystal structures and the result of X-ray photoelectron spectroscopy data re-confirmed the thick CdS shell on the CdSe core.

[Studies on chemical constituents of Eleutherine americana].

Objective: To research the chemical constituents from Eleutherine americana.

Methods: Column chromatography with silica gel was employed to isolate and purify the constituents. Their structures were elucidated by means of MS and NMR.

Puerarin induces angiogenesis in myocardium of rat with myocardial infarction.

Puerarin is a major effective ingredient extracted from the traditional Chinese medicine ge-gen (radix puerariae, RP). Recently, puerarin has been used to treat patients with coronary artery diseases (CAD). However, the mechanisms of puerarin on coronary artery diseases are still not very clear.