Turner syndrome mosaicism: Challenges in identification and management in primary care.

ABSTRACT: The spectrum of Turner syndrome (TS) includes Turner syndrome mosaicism (TSM), which is typically a nonhereditary chromosomal abnormality. Turner syndrome mosaicism presents uncommonly to primary care providers (PCPs), who often fail to recognize the subtle signs. The average age at diagnosis for common TS and TSM karyotype is 5.4 years, averaging 7.3 years. Often genetic confirmation, management, and recommended surveillance are delayed. Oftentimes, the PCP suspects a genetic etiology of an unusual phenotype, such as pinna placement or other unusual ear configurations, webbed neck with low posterior hairline, wide-spaced nipples, or short stature among other presentations. The PCP or geneticist orders diagnostic studies to confirm the diagnosis, such as a karyotype. After diagnosis, the PCP refers to the geneticist who initiates surveillance and makes recommendations for management. There are potential neurocognitive, cardiovascular, renal, reproductive, and endocrine issues. Treatment literature is vague and parental concerns are linked to quality mental health and quality of life for the family member with TS or TSM. The purpose of this article was to use a case study to introduce the topic of TS and TSM and to assist the PCP in the identification and management of patient and family concerns.

Adolescent Girls and Alcohol Use: Increasing Concern During the COVID-19 Pandemic.

ABSTRACT: Adolescence is a time known for risky behaviors and often the initiation of alcohol use. Readily available, alcohol is often one of the drugs of choice for adolescents. Whereas in the past 30 years, the overall consumption of alcohol is down, the data in the past 10 years have shown more girls are binge drinking and meeting criteria for alcohol use disorder (AUD). The alarm of early alcohol use is the association with problems with the substances later in life. Historically, men and male adolescents consumed more alcohol than females. Recent studies indicate girls' alcohol use surpasses boys, whereas women now are developing AUD at the same rate as men. The consequences of early use can result in women's increased risk for multiple cancers, having a more severe form of AUD with less alcohol consumption as well as premature death. To further exacerbate this growing concern, the novel coronavirus (COVID-19) pandemic has created a perfect storm for increased use of alcohol to cope with the stress of living in an uncertain world. Normal daily activities have been halted with the uncertainty of school closures, zoom classroom sessions, and living in mandated social isolation. All nurses need to be screening for how families under their care have been managing stress. The time is opportune to educate and support parents in engaging their children in conversations around substance use. Parents can be supported to increase awareness of their own coping mechanisms and strengthen positive coping. Adolescents need support to strengthen interpersonal skills as well as make informed decisions concerning when and how they engage in alcohol consumption. This article will illuminate the growing need for all healthcare providers to assess and guide adolescents' coping skills during COVID with a focus on mental health, high-risk behavior, and alcohol use.

Nausea in Numbers: Electronic Medical Record Nausea and Vomiting Assessment for Children With Cancer.

Purpose: Chemotherapy-induced nausea and vomiting (CINV) is a distressing, underrecognized effect of treatment that can occur in up to 80% of patients. The purpose of this quality improvement project was to evaluate the impact of implementation of a standardized nausea assessment tool, the Baxter Animated Retching Faces (BARF) scale, on nursing compliance with nausea assessment and the frequency and severity of patient-reported CINV for children with cancer. Method: The Plan-Do-Study-Act cycle was used to implement this practice change. With stakeholder support and hospital governance council approval, the BARF scale was introduced into the electronic medical record. Nurses were provided education about the assessment tool and were given badge buddy cards to prompt use of the tool, and workstation reminders were created. A root cause analysis was conducted to provide feedback for continuous quality improvement. Results: Retrospective, aggregate electronic medical record data from May 2018 to April 2019 were analyzed for assessment compliance, total number of admissions with vomiting episodes, and average BARF score. Over the 12-month implementation period, run charts demonstrated a shift in nursing practice with increased compliance in documented nausea assessments during the second 6-month period. There was not a significant decrease in patient-reported CINV. Conclusion: The use of standardized nausea assessments based on patient self-reporting can provide useful and consistent feedback for nurses and health care providers. This quality improvement project demonstrated increased compliance with nausea assessment documentation. Further studies are needed to demonstrate that improvements in nausea assessment may reduce the frequency and severity of CINV.

Understanding health policy to improve primary care management of obesity.

NPs are ideal candidates for implementing positive health changes for obese patients. Providers have medical expertise and can promote obesity reduction strategies to their patients. Increased awareness of the influence of health policy and clinical implications for obesity management are needed.

High-field 19.6T 27Al solid-state MAS NMR of in vitro aluminated brain tissue.

The combination of (27)Al high-field solid-state NMR (19.6T) with rapid spinning speeds (17.8 kHz) is used to acquire (27)Al NMR spectra of total RNA human brain temporal lobe tissues exposed to 0.10 mM Al(3+) (as AlCl(3)) and of human retinal pigment epithelial cells (ARPE-19), grown in 0.10 mM AlCl(3). The spectra of these model systems show multiple Al(3+) binding sites, good signal/noise ratios and apparent chemical shift dispersions. A single broad peak (-3 to 11 ppm) is seen for the aluminated ARPE-19 cells, consistent with reported solution-state NMR chemical shifts of Al-transferrin. The aluminated brain tissue has a considerably different (27)Al MAS NMR spectrum. In addition to the transferrin-type resonance, additional peaks are seen. Tentative assignments include: -9 to -3 ppm, octahedral AlO(6) (phosphate and water); 9 ppm, condensed AlO(6) units (Al-O-Al bridges); 24 ppm, tetrahedral AlO(3)N and/or octahedral Al-carbonate; and 35 ppm, more N-substituted aluminum and /or tetrahedral AlO(4). Thus, brain tissue is susceptible to a broad range of coordination by aluminum. Furthermore, the moderate (27)Al C(Q) values (all less than 10 MHz) suggest future NMR studies may be performed at 9.4T and a spin rate of 20 kHz.

Congestive heart failure performance-improvement project: special needs for special patients.

This article describes a performance-improvement project designed and implemented for Cullman Regional Medical Center's Congestive Heart Failure Disease Management Program. A large percentage of the program's clientele was either visually or hearing impaired, developmentally delayed, or illiterate. While the low-sodium diet-teaching sheet being utilized in the program prior to implementation of the project was excellent for some patients, it was not conducive to the disparities of the majority of the group. Many could not comprehend the diet sheet, making it difficult for them to be compliant to a diet necessary for disease control. The project consisted of a new, low-sodium diet-teaching sheet designed by the author and implemented over a 6-week time period. The tool was subsequently evaluated by administering a patient satisfaction survey. Outcomes and processes of the project are analyzed. Systematic evaluation of costs, data collection processes, benchmarks, and the utilization of technology are examined, as well as health and cultural beliefs of the clientele. The lessons learned as a result of implementing a simple modification to an existing teaching tool are shared.