Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review.

BACKGROUND: Anorexia nervosa has one of the highest mortality rates of all mental illnesses. For those who survive, less than 70% fully recover, with many going on to develop a more severe and enduring phenotype. Research now suggests that genetics plays a role in the development and persistence of anorexia nervosa. Inclusion of participants with more severe and enduring illness in genetics studies of anorexia nervosa is critical. OBJECTIVE: The primary goal of this review was to assess the inclusion of participants meeting the criteria for the severe enduring anorexia nervosa phenotype in genetics research by (1) identifying the most widely used defining criteria for severe enduring anorexia nervosa and (2) performing a review of the genetics literature to assess the inclusion of participants meeting the identified criteria. METHODS: Searches of the genetics literature from 2012 to 2023 were performed in the PubMed, PsycINFO, and Web of Science databases. Publications were selected per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). The criteria used to define the severe and enduring anorexia nervosa phenotype were derived by how often they were used in the literature since 2017. The publications identified through the literature search were then assessed for inclusion of participants meeting these criteria. RESULTS: most prevalent criteria used to define severe enduring anorexia nervosa in the literature were an illness duration of ≥ 7 years, lack of positive response to at least two previous evidence-based treatments, a body mass index meeting the Diagnostic and Statistical Manual of Mental Disorders-5 for extreme anorexia nervosa, and an assessment of psychological and/or behavioral severity indicating a significant impact on quality of life. There was a lack of consistent identification and inclusion of those meeting the criteria for severe enduring anorexia nervosa in the genetics literature. DISCUSSION: This lack of consistent identification and inclusion of patients with severe enduring anorexia nervosa in genetics research has the potential to hamper the isolation of risk loci and the development of new, more effective treatment options for patients with anorexia nervosa.

Anorexia nervosa (AN) is a serious illness with a high death rate. Many of those with AN do not recover and have continuing severe psychological and physical symptoms that greatly impact their quality of life. Research has shown that genetics plays an important role, along with environment, in the development and persistence of AN. This review highlights the continued lack of consensus on defining criteria for severe and enduring AN in the literature and the continued focus on younger females with shorter illness durations in AN genetics research. Greater efforts are needed to include older participants with severe AN of longer duration in genetics research in hopes of developing more effective treatments for this underrepresented group.

Identifying Congenital Heart Block in Primary Care.

Congenital heart block is a rare disease characterized by electrical conduction abnormalities of the heart in patients with both structural and without structural abnormalities. The most common cause of congenital heart block is autoimmune related, but other potential causes exist. Treatment for congenital heart block is determined by the severity of the disease and presenting symptoms. Primary care providers are in the optimal position to support patients and families. Although common causes and treatments of congenital heart block are known, much research is still to be done on the cause, optimal treatments, and potential long-term side effects.

[Investigations on the influence of different mouth and nose protection masks on the evidential breath alcohol measurement]. / Untersuchungen zum Einfluss verschiedener Mund-Nase-Schutzmasken auf die beweissichere Atemalkoholmessung.

On the occasion of a judicial expert opinion on the question of whether wearing a face mask can lead to a falsification of the breath alcohol value leading to detriment of the accused, an experimental series of tests was carried out under pandemic conditions on six healthy test subjects (four men, two women), who practiced low-risk recreational alcohol consumption. On each day of the study one specific mask type (surgical mask, textile mask, FFP2 mask) was examined. After ingestion of an individually calculated amount of alcohol and a 30-min absorption phase, 6 consecutive breath alcohol measurements were carried out at 30-min intervals, with one mask or no mask worn between measurements. Subsequently, pairs of values for periods with and without a mask were formed and the hourly breath alcohol elimination rates were calculated. As a result, the breath alcohol elimination rates with and without masks did not differ from each other. There were no error messages from the breathalyzer that can be attributed to the previous wearing of a mask.

Adolescent Eating Disorders: Early Identification and Management in Primary Care.

Eating disorders are complex, potentially life-threatening conditions characterized by disruptive eating behaviors that significantly impact physical and psychosocial functioning. The adolescent population is at an increased risk of developing eating disorders because of developmental changes affecting their perception. Eating disorders are associated with devastating medical complications and high mortality rates if left untreated. As the prevalence of eating disorders among adolescents continues to increase, it is important that clinicians are knowledgeable about early signs of disordered eating and facilitate timely evaluation and care coordination. Newly released clinical guidelines from the American Academy of Pediatrics are reviewed for early identification and management of eating disorders in children and adolescents. The epidemiology, risk factors, and medical complications for common eating disorders in primary care such as anorexia nervosa, bulimia nervosa, and binge eating disorder, are presented. An approach to screening for eating disorders, clinical assessment, and treatment options are outlined.

Adolescent Ethanol Exposure Alters Cholinergic Function and Apical Dendritic Branching Within the Orbital Frontal Cortex.

During adolescence, heavy binge-like ethanol consumption can lead to frontocortical structural and functional impairments. These impairments are likely driven by adolescence being a critical time point for maturation of brain regions associated with higher-order cognitive functioning. Rodent models of heavy binge-like ethanol exposure show consistent disruptions to the typical development of the prefrontal cortex (PFC). All deep cortical layers receive cholinergic projections that originate from the Nucleus basalis of Meynert (NbM) complex. These cholinergic projections are highly involved in learning, memory, and attention. Adolescent intermittent ethanol exposure (AIE) induces cholinergic dysfunction as a result of an epigenetic suppression of the genes that drive the cholinergic phenotype. The current study used a model of AIE to assess structural and functional changes to the frontal cortex and NbM following binge-like ethanol exposure in adolescence. Western blot analysis revealed long-term disruptions of the cholinergic circuit following AIE: choline acetyltransferase (ChAT) was suppressed in the NbM and vesicular acetylcholine transporter (VAChT) was suppressed in the orbitofrontal cortex (OFC). In vivo microdialysis for acetylcholine efflux during a spatial memory task determined changes in cholinergic modulation within the PFC following AIE. However, AIE spared performance on the spatial memory task and on an operant reversal task. In a second study, Golgi-Cox staining determined that AIE increased apical dendritic complexity in the OFC, with sex influencing whether the increase in branching occurred near or away from the soma. Spine density or maturity was not affected, likely compensating for a disruption in neurotransmitter function following AIE.

Pregnant and Parenting Women's Experiences with Substance Use Disorder.

PURPOSE: The purpose of the study was to describe and analyze the experience of women with substance use disorder during pregnancy and parenting to inform health care services that promote recovery. STUDY DESIGN: Interviews of pregnant or parenting women with substance use disorder were used in this qualitative descriptive study. METHODS: Participants were recruited from two recovery centers serving pregnant or parenting women with substance use disorder. Participants called a study cellphone to speak with the researchers about their substance use and recovery. Four independent reviewers conducted thematic analysis and were facilitated by Atlas.ti qualitative analysis program. RESULTS: N = 15 women called the study cellphone; 10 met inclusion criteria and were interviewed. Researchers coded 81 themes with the common occurrence of prior trauma, multiple substances used, stigma and judgment from others, and having children as a motivation to seeking recovery. Co-occurrence of themes of positive social support and the pursuit of recovery was identified. CLINICAL IMPLICATIONS: Positive social support co-occurring with recovery supports the need for strengthened social support structures. Health care professionals should intentionally address the culture of caring for pregnant and parenting women with substance use disorder through education, practice, advocacy, and research.

Slipped Capital Femoral Epiphysis: Early Intervention and Referral.

Slipped capital femoral epiphysis is the most common hip pathology in children aged 8-15 years old. Research has shown that when a nonorthopedic provider evaluates this patient population, there can be a significant delay in the appropriate treatment, which may have serious consequences for the prognosis of the patient. The delays are often caused by the practitioner's inability to put the clinical picture into focus with regard to how these patients typically present.. This article presents the demographics, clinical presentation, differential diagnosis, radiological and physical examination techniques, and prevention strategies to recognize this condition and provide early intervention.

Using simulation mannequins and actors in training for external post-mortem examinations -experiences from use in medical students and police officers.

In the daily practice of external post-mortem examinations and dealing with surviving dependents, striking failures can be observed regularly, pointing to an increased demand for training of the various professional groups involved. In this study, the experience gained from using simulation mannequins and actors for post-mortem examination training in medical students and police officers are presented. Since 2017, a training station has been offered at the Medical Faculty of the Technical University of Dresden (Germany) for practicing examinations in death scene and establishing communication with grieving relatives. It is conducted in small groups of up to 5 people, both for medical students and for police officers and police recruits. These courses are evaluated by means of questionnaires including 3 and 11 items respectively for the different groups. The questionnaires have been completed by 679 medical students and 67 police participants. Both groups of participants evaluated their previous experience as average. They assessed the course as having a high degree of practical and professional relevance. The didactic transfer of the teaching contents and its competent support were rated remarkably positive by the participants. Additionally, the police group reported high rates of approval for the use of feedback, the learning effect, and the appropriateness of the group size. The establishment and continuation of the simulation-based external post-mortem examination in the form of small-group teaching is associated with a considerable expenditure of equipment, material and personnel. In addition, its implementation requires sound cooperation structures. On the other hand, introduction and continuation of these types of additional teaching and learning methods, with a large practical component, can increase confidence in daily practice, and thus improve the quality of external post-mortem examination. Ultimately, this can also improve the cooperation between forensic medicine and the investigating authorities.

LGBT Youth, Sex Trafficking, and the Nurse Practitioner's Role.

Sex trafficking is one of the most profitable forms of transnational crimes (U.S. Department of Homeland Security, 2018). Sex traffickers prey on vulnerable populations to commission these crimes. Lesbian, gay, bisexual, and transgender (LGBT) youth are subject to adversity from an early age, which leaves them especially vulnerable to sex traffickers. Health care providers lack the resources, education, protocols, and policies required to protect these youth members of society. This literature review explores LGBT youth's risk factors for becoming a trafficked child, a provider's role in protecting and treating these youth, the legalities of a provider reporting sex trafficking, and research opportunities pertinent to these issues.

Calcifying epithelial odontogenic tumours: Collaborative study of 32 cases and review of literature.

OBJECTIVES: To analyse the occurrence of calcifying epithelial odontogenic tumours (CEOT) based on biopsy records from different Brazilian geographic regions and to contrast the data with a review of the literature. MATERIALS AND METHODS: A 2-step study was conducted. Step 1 consisted of a collaborative study of biopsies obtained from 1953 to 2017 at six Brazilian oral and maxillofacial pathology centres. Evaluation of 86,268 biopsy records was performed. Demographic and histopathological diagnosis data were assessed. In Step 2, a review of the literature of case reports and cases series of CEOT identified across five electronic databases was conducted. RESULTS: In the collaborative study, 32 cases of CEOT were evaluated. This figure represented 0.03% of the oral and maxillofacial lesions and 1.7% of all odontogenic tumours across the centres. Women in the fourth decade of life were more affected. CEOT occurred more in the mandible than in the maxilla (ratio 1.9:1). The review of the literature showed that Asian individuals were more affected by this neoplasm. CONCLUSIONS: Useful knowledge on the epidemiology, treatment and follow-up of CEOT has been provided. Demographic data and clinical features of the cases presented in this collaborative study were quite similar to those of studies reported worldwide.

Celiac Disease in the Pediatric Population.

Celiac disease is an autoimmune disorder in which the lining of the gastrointestinal tract is damaged by an immune-mediated response to gluten proteins (Allen, 2015). It is a polygenetic disease that only appears in genetically susceptible individuals (Newton & Singer, 2012). It is a worldwide concern, with North America having a high prevalence rate (Liu et al., 2017). Celiac disease can present in a spectrum of manifestations, making it difficult to identify and diagnosis (Reilly & Green, 2012). High-risk populations include those with a positive family history as well as individuals with other autoimmune disorders (Newton & Singer, 2012). Screening and diagnosis are completed with a blood test followed by a biopsy of the small intestinal lining (Zevit & Shamir, 2014). Currently, the only treatment for celiac disease is a strict, gluten-free diet. Further research is warranted in areas of environmental risk factors and treatments (Allen, 2015; Newton & Singer, 2012).

Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life.

BACKGROUND: An early observation after chest wall correction is direct inspection from the PE patient of their "new" thorax. Changes in self-perception may give raise to other psychological adaptations. The aim of this study was to evaluate the early changes in the fields of self-esteem, body image and QoL. METHODS: Prospective observational longitudinal multicenter cohort study. Self-esteem, emotional limitations and general health were assessed using the Child Health Questionnaire (CHQ) in patients under 18 and the World Health Organization Quality of Life Questionnaire-bref (WHOQOL-bref) was used for body image, psychological domain and overall QoL in patients over 16 years of age. Measurements were taken before surgery (T1) and 6 weeks (T2), and 6 months thereafter (T3). RESULTS: Scores on post-operative self-esteem were significantly higher compared with scores pre-operatively (p < 0.007). Also body image, psychological domain and emotional limitations showed significant improvement, respectively p < 0.001, p < 0.001, and p < 0.016. Significant improvement in the first three components was mainly achieved in the first 6 weeks post-operative. In emotional limitation, however, the largest change was between 6 weeks and 6 months. Overall quality of life in the WHOQOL-bref and general health domain in the CHQ showed no significant improvement in relation to the pre-operative scores. CONCLUSION: Post-operative PE patients after Nuss procedure showed an improved body image, increased self-esteem and increased psychological resilience in the first 6 months, with the most marked change in the first 6 weeks. Also emotional limitations changed significantly over time. The changes were not large enough to influence general QoL or general health significantly.

Objective structured clinical examination "Death Certificate" station - Computer-based versus conventional exam format.

One option for improving the quality of medical post mortem examinations is through intensified training of medical students, especially in countries where such a requirement exists regardless of the area of specialisation. For this reason, new teaching and learning methods on this topic have recently been introduced. These new approaches include e-learning modules or SkillsLab stations; one way to objectify the resultant learning outcomes is by means of the OSCE process. However, despite offering several advantages, this examination format also requires considerable resources, in particular in regards to medical examiners. For this reason, many clinical disciplines have already implemented computer-based OSCE examination formats. This study investigates whether the conventional exam format for the OSCE forensic "Death Certificate" station could be replaced with a computer-based approach in future. For this study, 123 students completed the OSCE "Death Certificate" station, using both a computer-based and conventional format, half starting with the Computer the other starting with the conventional approach in their OSCE rotation. Assignment of examination cases was random. The examination results for the two stations were compared and both overall results and the individual items of the exam checklist were analysed by means of inferential statistics. Following statistical analysis of examination cases of varying difficulty levels and correction of the repeated measures effect, the results of both examination formats appear to be comparable. Thus, in the descriptive item analysis, while there were some significant differences between the computer-based and conventional OSCE stations, these differences were not reflected in the overall results after a correction factor was applied (e.g. point deductions for assistance from the medical examiner was possible only at the conventional station). Thus, we demonstrate that the computer-based OSCE "Death Certificate" station is a cost-efficient and standardised format for examination that yields results comparable to those from a conventional format exam. Moreover, the examination results also indicate the need to optimize both the test itself (adjusting the degree of difficulty of the case vignettes) and the corresponding instructional and learning methods (including, for example, the use of computer programmes to complete the death certificate in small group formats in the SkillsLab).

[Legal medicine specialists within the framework of acute care : Analysis of legal medicine consultations in relation to the victims' statistics of the state office of criminal investigation in Saxony-Anhalt]. / Der Rechtsmediziner im Rahmen der Akutversorgung : Analyse rechtsmedizinischer Konsile in Relation zur Opferstatistik des Landeskriminalamtes Sachsen-Anhalt.

BACKGROUND: In acute medical care, there are patients who have been injured by the influence of others. The aim of this study was to analyze all cases which were presented to the Institute for Legal Medicine of the University Halle (Saale). The cases where analyzed in relation to the victims' statistics of the state office of criminal investigation in Saxony-Anhalt. MATERIALS AND METHODS: The consultations of the Institute for Legal Medicine Halle-Wittenberg for 2012-2015 were evaluated with regard to the age and gender distribution, the reasons for the consultation and time until the request for consultations. These cases were statistically compared to the victims' statistics of the state office of criminal investigation in Saxony-Anhalt 2014-2015. RESULTS: A total of 536 cases (55.6% male and 44.4% female patients) were evaluated. In all, 62.1% of patients were under 18 years of age; 43.5% of all consultations were requested by pediatric (surgery) clinics. The most common reasons for consultation were sexual child abuse or violence against children (50.7%). Compared to the victims' statistics, significantly more children were examined by legal medicine specialists than could have been expected (p < 0.001). In adult patients, the most common causes for consultation were acts of violence (20.4%) and domestic violence (10.1%). Among adults, significantly more women and fewer men were presented than expected (p = 0.001). CONCLUSION: There were only a small number of consultations of legal medicine specialists in relation to the victims' statistics. Most of them were children and women. The temporal latency between the act of violence and the consultations was one day and more. The latency and the renunciation of the consultation of the legal medicine specialists can lead to loss of evidence.

Establishment of two forensic medicine OSCE stations on the subject of external post-mortem examination.

An improvement in quality of medical external post-mortem examinations among others can be achieved by more intensive training of medical students. Modern learning and teaching methods such as e-learning modules and SkillsLab stations should be used for this. The introduction of corresponding methods of assessment such as the OSCE procedure is necessary to test the success of learning. In Halle (Germany), two OSCE stations on the subject of external post-mortem examinations were introduced in 2016. The 'practical external post-mortem examination' station test skills and abilities students have learned during practical external post-mortem examination in small group classes on a simulation doll. At the 'death certificate' station, an original death certificate must be filled in, testing the knowledge, skills and abilities learned in the SkillsLab station and during e-learning. A total of 148 students took part in the test. At both stations, at least two thirds of the students (69.5 and 81.7%) were able to show good or very good test results. In addition to the strengths, a detailed evaluation of the test results showed that there were still deficits in terms of the corresponding courses (e.g. inspection of the neck region in the small group classes), which will have to be remedied in the future. When analysing the test concept and the test implementation, objectivity was nearly perfect. There was a satisfactory internal consistency and stability over 8 months. Ultimately, in addition to several strengths (such as good understanding and transparency of the checklists) the evaluation of the examiners also showed further potential areas for improvement (e.g. harmonisation of the degree of difficulty for the individual rotations) when designing the OSCE stations. Overall, it was possible to determine that the OSCE testing format is a suitable tool to test external post-mortem examination skills and that conclusions about improvements in teaching can also be drawn from this.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" (ME) constitute an alternative strategy to WES, but its efficiency is poorly known. In this study, we report the experience of 2 clinical genetic centers using ME for diagnosis of NDDs. We recruited 216 consecutive index patients with NDDs in 2 French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (NSID, n = 33), syndromic ID (NSID = 122), pediatric neurodegenerative disorders (n = 7) and autism spectrum disorder (ASD, n = 54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnosis yield was higher in patients with ID as the main diagnosis (32%) than in patients with ASD (3.7%). Our results suggest that the use of ME is a valuable strategy for patients with ID when WES cannot be used as a routine diagnosis tool.