Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores.

Importance: Polygenic risk scores (PRSs) for coronary heart disease (CHD) are a growing clinical and commercial reality. Whether existing scores provide similar individual-level assessments of disease susceptibility remains incompletely characterized.

Objective: To characterize the individual-level agreement of CHD PRSs that perform similarly at the population level.

Polycystic ovary syndrome (PCOS): progress towards a better understanding and treatment of the syndrome.

Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder in women of reproductive age. It has a strong hereditary component estimated at 60 to 70% in daughters. It has been suggested that environmental factors during the fetal period may be involved in the development of the syndrome in adulthood.

Challenges in the management of severe cutaneous mucormycosis: A case of rapid progression in uncontrolled diabetes mellitus with polymicrobial implications.

Mucormycosis, a rare but life-threatening fungal infection, poses significant challenges in clinical management, particularly in patients with uncontrolled diabetes mellitus. This case report presents the clinical journey of a 44-year-old woman who developed a rapidly progressing Mucorales infection following a domestic knife injury. Her condition, complicated by diabetic ketoacidosis and co-infection with , led to severe hand phlegm and sepsis.

Hypothalamic neuroglial plasticity is regulated by anti-Müllerian hormone and disrupted in polycystic ovary syndrome.

Background: Polycystic ovary syndrome (PCOS) is the most common reproductive-endocrine disorder affecting between 5 and 18% of women worldwide. An elevated frequency of pulsatile luteinizing hormone (LH) secretion and higher serum levels of anti-Müllerian hormone (AMH) are frequently observed in women with PCOS. The origin of these abnormalities is, however, not well understood.

Changes in circulating forms of anti-Muüllerian hormone and androgens in women with and without PCOS: a systematic longitudinal study throughout pregnancy.

Study Question: What are the changes in serum concentration of total and cleaved anti-Muüllerian hormone (AMH) molecular forms and of androgens before and throughout pregnancy in women with and without polycystic ovary syndrome (PCOS) in a longitudinal follow-up investigation?

Summary Answer: Serum levels of total and cleaved AMH are higher from preconception to the third trimester of pregnancy in women with PCOS as compared to controls, whereas testosterone and androstenedione levels are higher in women with PCOS than in control women before pregnancy and during the second and third trimester of pregnancy.

What Is Known Already: Cross-sectional or partial longitudinal studies have shown higher AMH and androgen levels in pregnant women with PCOS as compared with non-PCOS women. To date, no complete longitudinal dynamic monitoring of the circulating forms of AMH and androgens from pre-conception to the third trimester of pregnancy have compared women with and without PCOS.

Scratch-AID, a deep learning-based system for automatic detection of mouse scratching behavior with high accuracy.

Mice are the most commonly used model animals for itch research and for development of anti-itch drugs. Most laboratories manually quantify mouse scratching behavior to assess itch intensity. This process is labor-intensive and limits large-scale genetic or drug screenings.

Fertilization, but Not Post-Implantation Development, Can Occur in the Absence of Sperm and Oocyte Beta1 Integrin in Mice.

Fertilization is a complex process that requires successive stages and culminates in the adhesion/fusion of gamete membranes. If the question of the involvement of oocyte integrins has been swept away by deletion experiments, that of the involvement of sperm integrins remains to be further characterized. In the present study, we addressed the question of the feasibility of sperm-oocyte adhesion/fusion and early implantation in the absence of sperm β1 integrin.

Female sexual behavior is disrupted in a preclinical mouse model of PCOS via an attenuated hypothalamic nitric oxide pathway.

Women with polycystic ovary syndrome (PCOS) frequently experience decreased sexual arousal, desire, and sexual satisfaction. While the hypothalamus is known to regulate sexual behavior, the specific neuronal pathways affected in patients with PCOS are not known. To dissect the underlying neural circuitry, we capitalized on a robust preclinical animal model that reliably recapitulates all cardinal PCOS features.

Polycystic ovary syndrome mouse model by prenatal exposure to high anti-Müllerian hormone.

Here, we describe a protocol that provides the steps required for the generation of a mouse model of polycystic ovary syndrome (PCOS) by exposing dams to elevated levels of anti-Müllerian hormone during late gestation. This protocol also describes the steps required to assess the PCOS-like equivalents of the Rotterdam PCOS diagnostic criteria in mice. For complete details on the use and execution of this protocol, please refer to Tata et al.

π-Stacking Interactions of Graphene-Coated Cobalt Magnetic Nanoparticles with Pyrene-Tagged Dendritic Poly(Vinylidene Fluoride).

This study investigates the non-covalent coating of cobalt magnetic nanoparticles (MNPs) involving a graphene surface with pyrene-tagged dendritic poly(vinylidene fluoride) (PVDF). Dendrimers bearing a pyrene moiety were selected to play the role of spacers between the graphene surface of the MNPs and the PVDF chains, the pyrene unit being expected to interact with the surface of the MNPs. The pyrene-tagged dendritic spacer 11 decorated with ten acetylenic units was prepared and fully characterized.

Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.

Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Müllerian hormone () and its receptor, , in 3% of CHH probands using whole-exome sequencing. We showed that during embryonic development, AMH is expressed in migratory GnRH neurons in both mouse and human fetuses and unconvered a novel function of AMH as a pro-motility factor for GnRH neurons.

Elevated prenatal anti-Müllerian hormone reprograms the fetus and induces polycystic ovary syndrome in adulthood.

Polycystic ovary syndrome (PCOS) is the main cause of female infertility worldwide and corresponds with a high degree of comorbidities and economic burden. How PCOS is passed on from one generation to the next is not clear, but it may be a developmental condition. Most women with PCOS exhibit higher levels of circulating luteinizing hormone, suggestive of heightened gonadotropin-releasing hormone (GnRH) release, and anti-Müllerian hormone (AMH) as compared to healthy women.

An analysis of structural influences on selection in RNA genes.

Noncoding RNAs (ncRNAs) are transcripts that do not code for protein but rather function as RNA in catalytic, regulatory, or structural roles in the cell. ncRNAs are involved in universally conserved biological processes, including protein synthesis and gene regulation, and have more specific roles, such as in X-chromosome inactivation in eutherian mammals. In this paper, we propose and investigate a hypothesis for patterns of sequence selection in structurally conserved ncRNAs.

Uncertainty in homology inferences: assessing and improving genomic sequence alignment.

Sequence alignment underpins all of comparative genomics, yet it remains an incompletely solved problem. In particular, the statistical uncertainty within inferred alignments is often disregarded, while parametric or phylogenetic inferences are considered meaningless without confidence estimates. Here, we report on a theoretical and simulation study of pairwise alignments of genomic DNA at human-mouse divergence.