Ovarian absence: a systematic literature review and case series report.

Ovarian absence is an uncommon condition that most frequently presents unilaterally. Several etiologies for the condition have been proposed, including torsion, vascular accident, and embryological defect. A systematic review was conducted to describe the clinical presentation of ovarian absence, as well as its associations with other congenital anomalies, through a systematic search of Cochrane Library, ClinicalTrials.gov, Google Scholar, Ovid Embase, Ovid Medline, PubMed, Scopus, and Web of Science. Exclusion criteria included cases with suspicion for Differences of Sex Development, lack of surgically-confirmed ovarian absence, and karyotypes other than 46XX. Our search yielded 12,120 citations, of which 79 studies were included. 10 additional studies were found by citation chasing resulting in a total 113 cases including two unpublished cases presented in this review. Abdominal/pelvic pain (30%) and infertility/subfertility (19%) were the most frequent presentations. Ovarian abnormalities were not noted in 28% of cases with pre-operative ovarian imaging results. Approximately 17% of cases had concomitant uterine abnormalities, while 22% had renal abnormalities. Renal abnormalities were more likely in patients with uterine abnormalities (p < 0.005). Torsion or vascular etiology was the most frequently suspected etiology of ovarian absence (52%), followed by indeterminate (27%) and embryologic etiology (21%). Most cases of ovarian absence are likely attributable to torsion or vascular accidents, despite many references to the condition as "agenesis" in the literature. Imaging may fail to correctly diagnose ovarian absence, and diagnostic laparoscopy may be preferable in many cases as genitourinary anatomy and fertility considerations can be assessed during the procedure. Fertility is likely minimally or not affected in women with unilateral ovarian absence.

Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when associated with extragenital anomalies including kidney and skeletal abnormalities. The genetic basis of MRKH syndrome remains unexplained and several candidate genes have been proposed to play a role in its etiology, including HNF1B, LHX1 and WNT4. Here, we conducted a microarray analysis of 13 women affected by MRKH syndrome, resulting in the identification of chromosomal changes, including the deletion at 17q12, which contains both HNF1B and LHX1. We focused on HNF1B for further investigation due to its known association with, but unknown etiological role in, MRKH syndrome. We ablated Hnf1b specifically in the epithelium of the Müllerian ducts in mice and found that this caused hypoplastic development of the uterus, as well as kidney anomalies, closely mirroring the MRKH type II phenotype. Using single-cell RNA sequencing of uterine tissue in the Hnf1b-ablated embryos, we analyzed the molecules and pathways downstream of Hnf1b, revealing a dysregulation of processes associated with cell proliferation, migration and differentiation. Thus, we establish that loss of Hnf1b function leads to an MRKH phenotype and generate the first mouse model of MRKH syndrome type II. Our results support the investigation of HNF1B in clinical genetic settings of MRKH syndrome and shed new light on the molecular mechanisms underlying this poorly understood condition in women's reproductive health.

The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder caused by Müllerian ducts dysgenesis affecting 1 in 5000 women with a typical 46,XX karyotype. The etiology of MRKH syndrome is complex and largely unexplained. Familial clustering suggests a genetic component and the spectrum of clinical presentations seems consistent with an inheritance pattern characterized by incomplete penetrance and variable expressivity. Mutations of several candidate genes have been proposed as possible causes based on genetic analyses of human patients and animal models. In addition, studies of monozygotic twins with discordant phenotypes suggest a role for epigenetic changes following potential exposure to environmental compounds. The spectrum of clinical presentations is consistent with intricate disruptions of shared developmental pathways or signals during early organogenesis. However, the lack of functional validation and translational studies have limited our understanding of the molecular mechanisms involved in this condition. The clinical management of affected women, including early diagnosis, genetic testing of MRKH syndrome, and the implementation of counseling strategies, is significantly impeded by these knowledge gaps. Here, we illustrate the embryonic development of tissues and organs affected by MRKH syndrome, highlighting key pathways that could be involved in its pathogenesis. In addition, we will explore the genetics of this condition, as well as the potential role of environmental factors, and discuss their implications to clinical practice.

Wastewater-based epidemiology pilot study to examine drug use in the Western United States.

The extent of prescription and illicit drug abuse in geographically isolated rural and micropolitan communities in the intermountain western United States (US) has not been well tracked. The goal of this pilot study was to accurately measure drug dose consumption rates (DCR) between two select populations, normalize the data and compare the DCRs to similar communities. To learn about patterns of drug abuse between the two disparate communities, we used the emergent field of wastewater-based epidemiology (WBE). A rapid, quantitative and systematic process for the determination of multiple classes of prescribed and illicit drugs was applied to influent wastewater samples. Influent samples were collected over the course of three months (April to June 2019) at two wastewater treatment plants representing a small urban and a rural community. Collection of sewage influent included 24-h composite samples and the use of polar organic chemical integrative samplers (POCIS), time-weighted samplers. Using the results from the composite sampling data, DCRs per 1000 population could be calculated from the concentration data and the use of excretion correction factors. The following 18 compounds: amphetamine, methamphetamine, MDA, MDMA, morphine, 6-acetylmorphine, methadone, EDDP, codeine, benzoylecgonine, hydrocodone, hydromorphone, oxycodone, noroxycodone, ketamine, fluoxetine, tramadol, and ritalinic acid; represent a subset of the targeted analytes that were consistently measured at detectable concentration levels, and present at both sites. Following normalization of the drug measurements to influent flow rates and per capita, the small urban community demonstrated greater collective excretion rates (CER) than the rural community, with the exceptions of amphetamine and methamphetamine.

Expanding Environmental Health Literacy-A Focus on Water Quality and Tribal Lands.

Environmental health literacy (EHL), an evolving concept, has potential for significant public health impact. However, complex skills are needed to access and use information, to study and document hazards, to link findings to health outcomes, and to understand the complexities of regulations and laws needed to take efficacious action. Because water issues are creating headlines world-wide, we draw from several water-related cases on American Indian tribal lands to examine some of the complexities associated with building needed skills, obtaining accessible information, and navigating the layers of laws and regulations that enable or inhibit efficacious action. Each case highlights the importance of partnerships, skill building, and collaborative action to redress environmental assaults. For our analysis, we draw from and expand upon Nutbeam's typology of health literacy which includes functional, interactive, and critical stages to derive lessons from each of the EHL cases. Community partnerships engaging in EHL efforts still face many challenges, including enhancing skills for community members as well as professionals, clarifying scientific processes and findings, articulating and respecting cultural practices and needs, and translating policies and laws for community accessibility and collaborative action.

A potential Human Rights Act in Queensland and inclusion of the right to health.

OBJECTIVE: To identify the level of public support for a Human Rights Act for Queensland (HRAQ) and for inclusion of the right to health by participants in a public inquiry process. METHODS: We reviewed the 492 written submissions to the Legal Affairs and Community Safety Committee's Inquiry into a potential HRAQ and the transcripts documenting the public hearings held by the Committee in 2016. RESULTS: A total of 465 written submissions were analysed; 419 (90%) were for a HRAQ. More than 80% of the 'for' submissions advocated the right to health's inclusion. At the seven public hearings, 72 persons made verbal submissions and most supported a HRAQ. Five major themes were identified in our synthesis of the public hearing transcripts. Three related specifically to health and human rights: 1) the need to consider the holistic health and human rights of Indigenous Queenslanders and Indigenous Queensland communities; 2) instilling a human rights culture in Queensland; and 3) access to health care and the underlying determinants of health. The other two themes related to the conduct of the Inquiry: 4) the importance of community participation in developing a HRAQ; and 5) concerns about the public consultation processes. CONCLUSION: This study found strong support in the majority of submissions for the Queensland Parliament to draft and enact a HRAQ, and for the inclusion of the right to health in such legislation. Implications for public health: The Queensland Parliament's enactment of a HRAQ that expressly included the right to health would increase the accountability and transparency of government health (and related) decision making and resource allocation, and would better identify and address health inequities across the state. This Act is imperative for improving the health and wellbeing of all Queenslanders, particularly rural and remote and Aboriginal and Torres Strait Islander Queenslanders.

Availability, Price, and Quality of Fruits and Vegetables in 12 Rural Montana Counties, 2014.

We assessed the consumer food environment in rural areas by using the Nutrition Environment Measures Survey for Stores (NEMS-S) to measure the availability, price, and quality of fruits and vegetables. We randomly selected 20 grocery stores (17 rural, 3 urban) in 12 Montana counties using the 2013 US Department of Agriculture's rural-urban continuum codes. We found significant differences in NEMS-S scores for quality of fruits and vegetables; of 6 possible points, the mean quality score was 4.5; of rural stores, the least rural stores had the highest mean quality scores (6.0). Intervention strategies should aim to increase fruit and vegetable quality in rural areas.

Are telehealth technologies for hypertension care and self-management effective or simply risky and costly?

Hypertension is a prevalent chronic disease that requires ongoing management and self-care. The disease affects 31% of American adults and contributed to or caused the deaths of 348,000 Americans in 2008, fewer than 50% of whom effectively self-managed the disease. However, self-management is complex, with patients requiring ongoing support and easy access to care. Telehealth may help foster the knowledge and skills necessary for those with hypertension to engage in successful self-management. This paper considers the applicability, efficacy, associated risks, and cost-effectiveness of telehealth for individuals and populations with hypertension. Telehealth is a broad term, encompassing telemedicine and mobile health that is used for physician-patient interactions, diagnostics, care delivery, education, information sharing, monitoring, and reminders. Telemedicine may have considerable utility for people diagnosed with hypertension who have poor access or social barriers that constrain access, but potential risks exist. Telehealth technology is evolving rapidly, even in the absence of fully proven cost-effectiveness and efficacy. Considering the cost of inpatient and emergency department care for patients with hypertension, telehealth is a highly attractive alternative, but there are risks to consider. Incorporating telehealth, which is increasingly characterized by mobile health, can increase both the capacity of health care providers and the reach of patient support, clinical management, and self-care. Telehealth studies need improvement; long-term outcome data on cardiovascular events must be obtained, and robust risk analyses and economic studies are needed to prospectively evaluate the safety and cost savings for hypertension self-management.