Genetic factors associated with hidradenitis suppurativa, a literature review.

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory disease characterized by deep-seated, painful lesions most frequently occurring in intertriginous areas of the skin. HS leads to poor quality of life in affected individuals and is difficult to diagnose and treat. Objective: Understanding the genetics associated with familial inheritance may lead to a better understanding of the pathogenesis of this debilitating disease. Methods: Articles published until March 9, 2023, were identified in PubMed using the following search terms: hidradenitis suppurativa and gene* or acne inversa and gene*. Results: The rate of monogenic mutations associated with HS is less than 7%, with the most common genetic mutations reported in sporadic and familial HS cases being in NCSTN and less frequently in PSENEN. Individuals with mutations in the gamma-secretase complex tended to have more severe HS and an early age of onset. Limitations: This study was limited to the case studies available in PubMed, the majority of which used targeted gene panels to detect genetic mutations. Conclusion: Approximately 30% of individuals diagnosed with HS report having a positive family history; however, very few studies demonstrate monogenic familial transmission of HS. The case studies of syndromic HS reported a variety of genetic mutations associated with HS, some of which were familial, while others were sporadic, suggesting that other pathways may be involved in the pathogenesis of HS and other potential mutations that have yet to be evaluated. More research is needed to understand the genetic mutations in HS.

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.

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.

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.

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.

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).

Practice Guidelines for Peanut Allergies.

This article reviews the latest recommendations and clinical practice guidelines for peanut allergies among the pediatric population. Recommendations in this paper were compiled using information collected from a variety of publications of accredited professional organizations. Peanut allergies are the body's response to what it sees to be an unwanted substance in the body. This article focuses on the causes, signs and symptoms, prevention, diagnosis, and management of peanut allergies.

Breastfeeding and Growth of Children in the Peri/postnatal Epigenetic Twins Study (PETS): Theoretical Epigenetic Mechanisms.

BACKGROUND: The prevalence of overweight infants and toddlers has increased by 60% in the past 30 years and is a significant contributor to diabetes, cardiovascular disease, and early morbidity and mortality. The World Health Organization's updated meta-analysis in 2013 observed an association between breastfeeding and a lower prevalence of obesity later in life. The purpose of this study was to assess the growth of children in a cohort of Australian twins to examine associations between duration of breastfeeding and growth at 18 months of age. Our hypothesis is that the anthropometric measurements of the participants will be greater with shorter duration of breastfeeding. METHODS: Methods include using cross-sectional data from a cohort at the 18-month visit (n = 179) in the Peri/postnatal Epigenetics Twins Study (PETS) to assess the relationship between duration of breastfeeding and infant size at 18 months of age. Inclusion criteria were birth weight of more than 2000 grams and breastfed for less than 1 month, 1 to 3 months, or 4 to 6 months. RESULTS: The analysis suggested that infants breastfed for 1 to 3 months were significantly larger than infants breastfed for 4 to 6 months in terms of mean body mass index (BMI) (0.61 kg/m(2); P = .02; 95% confidence interval [CI], 0.17-1.05), arm circumference (0.66 cm; P = .006; 95% CI, 0.26-1.06), and abdominal circumference (1.16 cm; P = .03; 95% CI, 0.26-2.06). The analysis also suggested that infants breastfed for less than 1 month were significantly larger than infants breastfed for 4 to 6 months in terms of mean arm circumference (0.72 cm; P = .009; 95% CI, 0.26-1.17). CONCLUSION: Results suggest that supplementing with non-breast milk before 4 months of age was associated with an increased BMI, arm circumference, and abdominal circumference at 18 months of age. The mean BMI decreased from 85% to 65% when infants were breastfeeding for 4 to 6 months as compared to breastfeeding for 1 to 3 months. Breastfeeding for 4 to 6 months appeared to protect against the risk of obesity for the children in the PETS.