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rettes) can have on fetal health and development.

This study examined maternal pregnancy wantedness and perceptions of paternal wantedness, and their associations with maternal perinatal mental health symptoms and relationship dynamics.

Low-income, ethnically-diverse pregnant women (N = 101, M

 = 29.10years, SD

 = 6.56, range

 = 18-44; 37% Latina, 22% African-American, 20% White, 21% biracial/multiracial/other) completed semi-structured interviews of pregnancy wantedness coded by trained raters, and standardized instruments of depression and PTSD symptoms during pregnancy and at 3-4-months postpartum.

While maternal pregnancy wantedness (rated from 0-Predominately Ambivalent, 1-Mixed, and 2-Predominately Positive) showed no significant associations, a couple-level scale that combined maternal wantedness and her perceptions of paternal wantedness (Equally Positive Wantedness, Mom Wants More, Dad Wants More and Equally Ambivalent) showed several significant associations. Compared to women in the Equally Positive group, women in the Mom Wants More grouivalent. Providers should ask women about their perceptions of partners' pregnancy wantedness to inform delivery of targeted mental health and relationship-based intervention during pregnancy.

Low birthweight is one of the main causes of poor health outcomes among newborns, with Black women having a disproportionately high prevalence. A digital intervention targeted Black women in Orange County, Florida with information on positive pregnancy-related knowledge and attitudes related to low birthweight. This paper reports on campaign methods for the first 2.5 years of implementation.

Campaign content was tailored toward Black women, around a reproductive empowerment lens. Content focused on emphasizing healthy pregnancy-related behaviors and creating positive representations of Black women throughout the various stages of pregnancy through both static images and a web series. Digital metrics gauged campaign engagement. Three cross-sectional online surveys conducted in the intervention county examined Black women's pregnancy-related knowledge, attitudes, and behaviors.

After two years of campaign implementation, social media accounts showed 1784 followers. While Facebook showed more average monthor changes on a larger scale. This may be particularly important given that the COVID-19 pandemic may be changing the ways that pregnant women access information. Studies should examine the impact and feasibility of using culturally-appropriate digital interventions that directly address Black women and their specific experiences during pregnancy.Endocrine therapy (ET) is integral to the treatment of hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) metastatic breast cancer (MBC). Aromatase inhibitors (AIs; e.g., anastrozole, letrozole, exemestane), selective estrogen receptor modulators (e.g., tamoxifen), and the selective estrogen receptor degrader, fulvestrant, inhibit tumor cell proliferation by targeting ER signaling. However, the efficacy of ET could be limited by intrinsic and acquired resistance mechanisms, which has prompted the development of targeted agents and combination strategies. In recent years, the treatment landscape for HR+, HER2- MBC has evolved rapidly. AIs, historically the first-line treatment for postmenopausal patients with HR+, HER2- MBC, have been challenged by more effective ET, such as fulvestrant alone or in combination with an AI, and the cyclin-dependent kinase (CDK)4/6 inhibitors, which have increasingly become the new standard of care. For endocrine-resistant disease (≥ second-line), clinical trials demonstrated that the mammalian target of rapamycin inhibitor, everolimus, enhanced the efficacy of exemestane or fulvestrant after progression on an AI. CDK4/6 inhibitors in combination with fulvestrant have demonstrated superior progression-free survival and overall survival versus fulvestrant alone. Recently, the combination of fulvestrant with alpelisib in phosphatidylinositol-4,5-bisphosphate 3-kinase (PIK3CA) mutated HR+, HER2- MBC following progression on or after ET was approved, based on the SOLAR-1 study. However, the optimal sequencing of treatments is unknown, especially following disease progression on a CDK4/6 inhibitor. This review aims to provide practical guidance for the management of HR+, HER2- MBC based on available data and the utility of genomic biomarkers, including germline breast cancer genes 1 and 2 (BRCA1/2) mutations, and somatic estrogen receptor alpha gene (ESR1), HER2, and PIK3CA mutations.There are no currently available disease-modifying pharmacological treatments for most of the chronic hereditary ataxias; thus, effective rehabilitative strategies are crucial to help improve symptoms and therefore the quality of life. We propose to gather all available evidence on the use of video games, exergames, and apps for tablet and smartphone for the rehabilitation, diagnosis, and assessment of people with ataxias. Relevant literature published up to June 8, 2020, was retrieved searching the databases PubMed, ISI Web of Science, and the Cochrane Database. Data were extracted using a standardized form, and their methodological quality was assessed using RoB and QUADAS-2. Six studies of 434 retrieved articles met the predefined inclusion/exclusion criteria. Two of them were diagnostic, while 4 were experimental studies. Studies included participants ranging from 9 to 28 in trials and 70 to 248 in diagnostic studies. Although we found a small number of trials and of low methodological quality, all of them reported an improvement of motor outcomes and quality of life as measured by specific scales, including the SARA, BBS, DHI, and SF-36 scores. The main reason for such low quality in trials was that most of them were small and uncontrolled, thus non-randomized and unblinded. As video games, exergames, serious games, and apps were proven to be safe, feasible, and at least as effective as traditional rehabilitation, further and more high-quality studies should be carried out on the use of these promising technologies in people with different types of ataxia.This study presented two Chinese adult female patients who were diagnosed with adult-onset Krabbe disease (KD) and reviewed this disease in Chinese patients. Two young female adults in their 20s were enrolled in this study. Clinical data, including symptoms, magnetic resonance imaging (MRI) scanning, and laboratory studies were collected. Sequence alignment and structural modeling were carried out to analyze the pathogenesis of the disease. Both patients were adult-onset and both had a mild clinical course, presented with spastic weakness. The MRI study showed demyelination confined to the corticospinal tracts and parieto-occipital white matter. The β-galactocerebrosidase (GALC) activity was obviously decreased in both patients. Gene test of GALC showed that both patients were compound heterozygotes; proband I was a carrier of p.L634S (c.1901 T > C) and p.I250T (c.749 T > C), while proband II was a carrier of p.L634S (c.1901 T > C) and a new variant of c.283_284del. Molecular analysis revealed the variants may influence the function of GALC. We provided two Chinese adult-onset KD, and the clinical and genetic characteristics of proband II was especially rare due to asymmetric symptoms, spinal cord involvement, and the identification of a new point mutation c.283_284del in the GALC gene. Variant c.749 T > C can present mild syndromes except for severe cases. c.283_284del is a new variant that may occur in adult-onset type.The key players of the chronic kidney disease-mineral and bone disorders (CKD-MBD) are calcium, phosphate, PTH, FGF23, and the vitamin D hormonal system. The progressive reduction of kidney function greatly modifies the tightly interrelated mechanisms that control these parameters. As a result, important changes occur in the bone and mineral hormonal axis, leading to changes in bone turnover with relevant consequences in clinical outcomes, such as decrease in bone mass with increased bone fragility and bone fractures and increased vascular and valvular calcification, also with great impact in the cardiovascular outcomes. alphaNaphthoflavone So far, the knowledge of the mineral and bone disorders in CKD and the increased variety of efficacious therapies should lead to a better prevention and management of CKD-MBD.Notch signaling plays a crucial role in differentiation and homeostasis in a wide variety of epithelia. The tumor suppressor role of Notch in bladder urothelium is well accepted as the inactivation of this pathway due to damaging mutations in its components is associated with neoplastic transformation. Monitoring Notch signaling is therefore critical to understand how the deregulation of cell-cell communication can lead to differentiation loss and carcinogenesis. In this chapter, we provide a method to visualize active Notch signaling by the detection of the nuclear levels of Notch intracellular domain in mouse urothelium. The technique outlined below is characterized by high sensitivity and specificity and has been successfully applied to human tumor specimens. In this context, this technique could be used to characterize the molecular profile of Notch-deficient tumors and analyze the clonal expansion dynamics and the heterogeneity patterns of Notch inactivation.The realization of the full potential of human pluripotent stem cells (hPSCs), including human induced PSCs (iPSC), relies on the ability to precisely edit their genome in a locus-specific and multiplex manner. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) serve as a guide for the endonuclease Cas9 (CRISPR-associated protein 9) to recognize and cleave specific strands of DNA that are complementary to the CRISPR sequence. CRISPR/Cas9-mediated editing has become the gold standard for precise genome manipulation as it offers a unique, versatile, and limitless tool for fast, robust, and efficient genome editing. Here, we provide a protocol to successfully generate gene knockout and/or knockin iPSCs. We include detailed information on the design of guide RNAs (gRNAs), T7 endonuclease assay to detect on-target CRISPR/Cas9 editing events, DNA electroporation of the iPSCs with a ribonucleoprotein complex, and single-cell cloning steps for the selection of the genome-edited iPSC clones.Diabetes is a complex metabolic disorder, with no available treatment. Islet transplantation is currently practiced beta cell replacement therapy option, however, with major limitations. Human pluripotent stem cells (hPSCs) can be used as a scalable source for generation of insulin-secreting cells as hPSCs have high proliferative capacity and can differentiate into any tissue type. In vitro stepwise protocols have been designed for differentiating hPSCs into pancreatic lineages that finally give rise to beta cells; however, these hPSC-derived beta cells are dissimilar to adult human beta cells in key aspects of gene expression and functionality. Alternatively, pancreatic progenitors, when transplanted in the body, have been shown to mature into functional insulin-secreting beta cells, capable of reversing hyperglycemia. These pancreatic progenitors require the co-expression of PDX1, a transcription factor (TF) regulating pancreatic development, and NKX6.1, another TF key for beta cell maturation and function, to produce glucose-responsive beta cells.