Psychosocial Implications of Prenatal Telehealth Genetic Counselling: A Systematic Review

Introduction: Telehealth is a growing service delivery model in clinical genetics and genetic counselling. Despite its popularity, telehealth genetic counselling (TGC) is often not incorporated into prenatal genetic services. Methods: A literature review was conducted to identify peer-reviewed, original research articles, which examined the psychosocial implications (e.g. satisfaction) of prenatal TGC. Using the PubMed database, searches were conducted using the following key terms: “Telehealth Genetic Counselling”, “Prenatal Genetics Telehealth” and “Telegenetics”. Results: The search returned 82 articles; only five articles assessed the psychosocial implications of prenatal TGC. The TGC delivery methods varied among studies, but results consistently revealed positive responses, most notably patient satisfaction. Conclusions: Further use and research of TGC are needed to better understand the social implications of this service delivery model for prenatal populations. This information is essential to guide clinical care for prenatal populations

Psychosocial Implications of Prenatal Telehealth Genetic Counseling: A Systematic Review

Introduction: Telehealth is a growing service delivery model in clinical genetics and genetic counselling. Despite its popularity, telehealth genetic counseling (TGC) is often not incorporated into prenatal genetic services. Methods: A literature review was conducted to identify peer-reviewed, original research articles, that examined the psychosocial implications of prenatal TGC. The PubMed database was used with the following key terms: “Telehealth Genetic Counseling”, “Prenatal Genetics Telehealth” and “Telegenetics”. Results: The search returned 82 articles; only five articles assessed the psychosocial implications of prenatal TGC. The TGC delivery methods varied among studies, but results consistently revealed positive responses, most notably patient satisfaction. Conclusions: Further use and research of TGC are needed to better understand the social implications of this service delivery model for prenatal populations. This information is essential to guide clinical care for prenatal populations

Maternal Obesity Drives Functional Alterations in Uterine NK Cells

Over one-fifth of North American women of childbearing age are obese, putting these women at risk for a variety of detrimental chronic diseases. In addition, obesity increases the risk for developing major complications during pregnancy. The mechanisms by which obesity contributes to pregnancy complications and loss remain unknown. Increasing evidence indicates that obesity results in major changes to adipose tissue immune cell composition and function; whether or not obesity also affects immune function in the uterus has not been explored. Here we investigated the effect of obesity on uterine natural killer (uNK) cells, which are essential for uterine artery remodeling and placental development. Using a cohort of obese or lean women, we found that obesity led to a significant reduction in uNK cell numbers accompanied with impaired uterine artery remodeling. uNK cells isolated from obese women had altered expression of genes and pathways associated with extracellular matrix remodeling and growth factor signaling. Specifically, uNK cells were hyper-responsive to PDGF, resulting in overexpression of decorin. Functionally, decorin strongly inhibited placental development by limiting trophoblast survival. Together, these findings establish a potentially new link between obesity and poor pregnancy outcomes, and indicate that obesity-driven changes to uterine-resident immune cells critically impair placental development

Review of factors resulting in systemic biases in the screening, assessment, and treatment of individuals at clinical high-risk for psychosis in the United States

BACKGROUND: Since its inception, research in the clinical high-risk (CHR) phase of psychosis has included identifying and exploring the impact of relevant socio-demographic factors. Employing a narrative review approach and highlighting work from the United States, sociocultural and contextual factors potentially affecting the screening, assessment, and service utilization of youth at CHR were reviewed from the current literature. RESULTS: Existing literature suggests that contextual factors impact the predictive performance of widely used psychosis-risk screening tools and may introduce systemic bias and challenges to differential diagnosis in clinical assessment. Factors reviewed include racialized identity, discrimination, neighborhood context, trauma, immigration status, gender identity, sexual orientation, and age. Furthermore, racialized identity and traumatic experiences appear related to symptom severity and service utilization among this population. CONCLUSIONS: Collectively, a growing body of research from the United States and beyond suggests that considering context in psychosis-risk assessment can provide a more accurate appraisal of the nature of risk for psychosis, render more accurate results improving the field\u27s prediction of conversion to psychosis, and enhance our understanding of psychosis-risk trajectories. More work is needed in the U.S. and across the globe to uncover how structural racism and systemic biases impact screening, assessment, treatment, and clinical and functional outcomes for those at CHR

MICU2, a Paralog of MICU1, Resides within the Mitochondrial Uniporter Complex to Regulate Calcium Handling

Mitochondrial calcium uptake is present in nearly all vertebrate tissues and is believed to be critical in shaping calcium signaling, regulating ATP synthesis and controlling cell death. Calcium uptake occurs through a channel called the uniporter that resides in the inner mitochondrial membrane. Recently, we used comparative genomics to identify MICU1 and MCU as the key regulatory and putative pore-forming subunits of this channel, respectively. Using bioinformatics, we now report that the human genome encodes two additional paralogs of MICU1, which we call MICU2 and MICU3, each of which likely arose by gene duplication and exhibits distinct patterns of organ expression. We demonstrate that MICU1 and MICU2 are expressed in HeLa and HEK293T cells, and provide multiple lines of biochemical evidence that MCU, MICU1 and MICU2 reside within a complex and cross-stabilize each other's protein expression in a cell-type dependent manner. Using in vivo RNAi technology to silence MICU1, MICU2 or both proteins in mouse liver, we observe an additive impairment in calcium handling without adversely impacting mitochondrial respiration or membrane potential. The results identify MICU2 as a new component of the uniporter complex that may contribute to the tissue-specific regulation of this channel.National Institutes of Health (U.S.) (GM0077465)National Institutes of Health (U.S.) (DK080261