ABSTRACT
In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′ untranslated region (5′UTR) of the ...interferon‐induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.–14C > T) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. The variability of the phenotype was quite large even within families. Whereas some patients presented with the typical calcification of the forearm interosseous membrane, radial head dislocation and hyperplastic callus (HPC) formation following fractures, others had only some of the typical OI type V findings. Thirteen had calcification of interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral mixed hearing loss. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.
Attention-deficit/hyperactivity disorder (ADHD) is a common disorder affecting people of all ages, and is characterized by inattention, hyperactivity, and impulsivity. Adults frequently have less ...hyperactivity or impulsivity but struggle more with inattentiveness and restlessness. Adults also may have comorbid psychiatric conditions and substance use issues that can make ADHD challenging to detect and treat. If left untreated, ADHD may harm the patient's quality of life. This article examines therapies for treating adults with ADHD.
There is strikingly limited information on linear growth and weight in the different types of osteogenesis imperfecta (OI). Here, we define growth patterns further with the intent of implementing ...appropriate adaptations proactively.
We report cross-sectional anthropometric data for 343 subjects with different OI types (144 children, 199 adults). Longitudinal height data for 36 children (18 girls, 18 boys) with OI type I and 10 children (8 girls, 2 boys) with OI type III were obtained.
In all cases, the height Z-scores were negatively impacted, and final height Z-scores were impacted the most. In type I, the growth velocities taper near puberty, and there is a blunted pubertal growth spurt. The growth velocities of children with type III decelerate before age 5 y; poor growth continues without an obvious pubertal growth spurt. Obesity is a concern for all patients with OI, with type III patients being the most affected.
The linear growth patterns, in addition to the marked increase in weight over time, indicate a need for lifestyle modifications early in childhood, especially a need for weight control. Further definition of the anthropometric measures in OI enables patients to begin modifications as early as possible.
Objectives Undergraduate nursing and first-year medical students participated in a brief, scenario-based, interprofessional event. The experimental group only was provided an innovative, rapid ...e-learning instructional module focused on interprofessional roles/responsibilities and communication prior to the event. Methods Pre-post attitudes toward physician-nurse collaboration were surveyed, and collaborative behaviors were observed during the event. Results For the experimental group, a statistically significant (p<0.05) attitude improvement was found between pre-post e-learning module scores as well as pre-e-learning module and post-simulation event scores. For the control group, a statistically significant (p=0.001) attitude improvement was found between pre-post simulation event scores. No statistically significant differences in team collaborative behaviors were observed between experimental and control. Conclusions The combination of module and simulation event was not a more effective option than the event alone. As both interventions present unique challenges in regards to technology and facility requirements, having multiple effective intervention options will be of benefit to educational institutions.
ABSTRACT In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′ untranslated region (5′UTR) of the ...interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.–14C > T) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. The variability of the phenotype was quite large even within families. Whereas some patients presented with the typical calcification of the forearm interosseous membrane, radial head dislocation and hyperplastic callus (HPC) formation following fractures, others had only some of the typical OI type V findings. Thirteen had calcification of interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral mixed hearing loss. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.
Kisspeptin, encoded by Kiss1, stimulates GnRH neurons to govern reproduction. In rodents, estrogen-sensitive kisspeptin neurons in the anterior ventral periventricular nucleus and neighboring ...periventricular nucleus are thought to mediate sex steroid-induced positive feedback induction of the preovulatory LH surge. These kisspeptin neurons coexpress estrogen and progesterone receptors and display enhanced neuronal activation during the LH surge. However, although estrogen regulation of kisspeptin neurons has been well studied, the role of progesterone signaling in regulating kisspeptin neurons is unknown. Here we tested whether progesterone action specifically in kisspeptin cells is essential for proper LH surge and fertility. We used Cre-lox technology to generate transgenic mice lacking progesterone receptors exclusively in kisspeptin cells (termed KissPRKOs). Male KissPRKOs displayed normal fertility and gonadotropin levels. In stark contrast, female KissPRKOs displayed earlier puberty onset and significant impairments in fertility, evidenced by fewer births and substantially reduced litter size. KissPRKOs also had fewer ovarian corpora lutea, suggesting impaired ovulation. To ascertain whether this reflects a defect in the ability to generate sex steroid-induced LH surges, females were exposed to an estradiol-positive feedback paradigm. Unlike control females, which displayed robust LH surges, KissPRKO females did not generate notable LH surges and expressed significantly blunted cfos induction in anterior ventral periventricular nucleus kisspeptin neurons, indicating that progesterone receptor signaling in kisspeptin neurons is required for normal kisspeptin neuronal activation and LH surges during positive feedback. Our novel findings demonstrate that progesterone signaling specifically in kisspeptin cells is essential for the positive feedback induction of normal LH surges, ovulation, and normal fertility in females.
To compare differences in infertility-related stress and quality of life (QOL) among women with infertility and concurrent reproductive trauma, defined as pregnancy loss during the infertility ...experience.
We used a descriptive, cross-sectional study design to recruit 205 women who underwent infertility treatments from infertility-related Facebook support groups and pages. Participants completed the Copenhagen Multi-center Psychosocial Infertility Fertility Problem Stress Scale, the Fertility Quality of Life tool, and a supplemental infertility demographic form. Statistical analyses included descriptive statistics, Pearson correlations, multivariate analysis of variance (MANOVA), univariate ANOVA, and eta squared. Statistical significance was evaluated using a Bonferroni adjusted alpha = .05/7 = .007.
Participants with concurrent reproductive trauma had significantly higher social stress (p < .001), and significantly lower emotional QOL (p = .003) than women with infertility alone. Although not statistically significant, participants with concurrent reproductive trauma reported higher personal and marital stress scores and lower mind/body, relational, and social QOL scores than women with infertility alone.
Women with concurrent reproductive trauma may need psychological support to combat the emotional distress of pregnancy loss during infertility treatment.
Abstract Background The oral vasopressin-2 receptor antagonist tolvaptan causes aquaresis in patients with volume overload, potentially facilitating decongestion and improving the clinical course of ...patients with acute heart failure (AHF). Objectives To address the acute use of tolvaptan to improve congestion in AHF, we conducted the Targeting Acute Congestion with Tolvaptan in Congestive Heart Failure (TACTICS-HF, NCT01644331) study. Methods TACTICS-HF randomized patients within 24 hours of AHF presentation in a prospective, double blind, placebo-controlled trial. Patients were eligible regardless of ejection fraction, and were randomized to either 30 mg of tolvaptan or placebo given at 0, 24, and 48 hours, with a fixed-dose furosemide regimen as background therapy. The primary endpoint was the proportion of patients considered responders at 24 hours. Secondary endpoints included symptom improvement, changes in renal function, and clinical events. Results A total of 257 patients were randomized. Dyspnea relief by Likert scale was similar between tolvaptan and placebo at 8 hours (25% moderately or markedly improved for tolvaptan vs. 28% placebo, p=0.59) and at 24 hours (50% tolvaptan vs. 47% placebo, p=0.80). Need for rescue therapy was also similar at 24 hours (21% tolvaptan, 18% placebo, p=0.57). The proportion defined as responders at 24 hours (primary study endpoint) was 16% for tolvaptan and 20% for placebo (p=0.32). Tolvaptan resulted in greater weight loss and net fluid loss compared to placebo, but tolvaptan-treated patients were more likely to experience worsening renal function during treatment. There were no differences in in-hospital or post-discharge clinical outcomes. Conclusions In patients hospitalized with AHF, dyspnea, and congestion, the addition of tolvaptan to a standardized furosemide regimen did not improve the number of responders at 24 hours despite greater weight loss and fluid loss.
Women who undergo assisted reproductive technology (ART) treatments experience infertility-related stress and have low quality of life (QOL). However, there is limited understanding of ...infertility-related stress, coping, or QOL among women who undergo non-ART treatments. The purpose of this study was to examine infertility-related stress, coping, and QOL among women who undergo ART and non-ART infertility treatments. Using a descriptive correlational cross-sectional design, we recruited 200 women who underwent infertility treatments. Participants completed the Copenhagen Multi-centre Psychosocial Infertility (COMPI) Fertility Problem Stress Scale, COMPI Coping Styles Scale, Fertility Quality of Life tool, and a demographic infertility survey. Data analysis included descriptive statistics, independent t-test, chi-square, and hierarchical multiple regression. Women who underwent non-ART had more personal stress, used more active-avoidance coping, and had lower emotional, social, and treatment environment QOL compared to those in ART treatment. Women who underwent ART treatments used more meaning-based coping but had lower treatment tolerability QOL. Stress and coping contribute to core QOL differently among infertility treatment groups. Both treatment groups report low satisfaction with emotional services. Regardless of the treatment type, women who undergo infertility treatments may need care to address their psychological health.
Sweeping policy changes during the COVID-19 pandemic increased alcohol availability through permitted to-go sales, potentially posing unique risks to college students. While to-go sales may make ...binge drinking more convenient, little remains known about these practices. Therefore, this study aimed to assess whether drinking establishments' to-go sales practices are associated with their other operational practices and state policy.
This cross-sectional analysis included 221 randomly selected bars, nightclubs, and restaurants within two miles of a large public university. Telephone interviews assessed establishment practices, and the Alcohol Policy Information System provided state alcohol to-go laws. Regression models tested whether establishment to-go sales practices were associated with their business practices (logistic regression) and state policy (generalized estimating equations).
Nearly one-half (44.8%) of drinking establishments sold alcohol to-go. Establishments with higher vodka prices had nearly 30% higher odds of selling spirits to-go (aOR = 1.29) and establishments offering happy hours specials had more than twice the odds of selling beer (aOR = 2.22), wine (aOR = 2.53), and spirits to-go (aOR = 2.60). Additionally, establishments that implemented physical distance requirements had higher odds of selling wine to-go (aOR = 3.00). State to-go laws were associated with higher odds of selling wine (aOR = 3.99) and spirits to-go (aOR = 5.43) in the full sample and beer to-go (aOR = 4.92) in urban counties.
Establishments that sell alcohol to-go tend to engage in other practices designed to drive sales. Evaluations of alcohol to-go sales laws on risky consumption among priority populations, including college students, are urgently needed to inform decisions about how to appropriately regulate sales.
PDF
