Adverse pregnancy outcomes and effect of treatment in Wilson disease during pregnancy: Systematic review and meta-analysis.

BACKGROUND AND AIMS: Wilson disease (WD) is a rare disorder of copper metabolism, leading to liver and neurological disease. Existing literature on WD in pregnancy is scarce, limiting preconception and obstetrical counselling. In this systematic review with meta-analysis, we determine the prevalence of various adverse pregnancy and neonatal outcomes in WD, as well as evaluate the impact of WD treatment on these outcomes. METHODS: Scopus, MEDLINE and EMBASE were searched until 12 May 2023, for studies of pregnant individuals with WD and at least one pregnancy or neonatal outcome of interest. Meta-analysis of single proportions was conducted to pool prevalence data for each outcome. Outcome rates were compared between treated and untreated groups in a meta-analysis of dichotomous events. RESULTS: Sixteen studies, published from 1975 to 2022, were included in the systematic review. Thirty-seven percent of pregnancies reported at least one adverse pregnancy outcome. Spontaneous abortions (20%), liver diseases of pregnancy (4.5%) and preterm births (2%) were the most frequent adverse pregnancy outcomes in patients with WD. The prevalence of spontaneous abortions was significantly lower in pregnant individuals with WD who received treatment during pregnancy (OR: .47, 95% CI: 35%-63%). The prevalence of any adverse pregnancy outcome was also significantly lower with treatment (OR: .53, 95% CI: .37-.76), which appears to be mostly driven by the reduction of spontaneous abortions. CONCLUSIONS: There is low to moderate quality evidence to suggest that preconception and obstetrical counselling for patients with WD should include a discussion on the potentially high frequency of adverse pregnancy outcomes in this population, as well as the importance of continuing WD treatment during pregnancy to ensure satisfactory pregnancy course and potentially minimize the risk of spontaneous abortions.

An overlooked mimic? Autoimmune myelofibrosis-A scoping review of the literature.

BACKGROUND AND OBJECTIVES: Autoimmune myelofibrosis (AIMF) is a rare cause of bone marrow fibrosis (BMF) occurring in the presence or absence of a defined autoimmune disease (secondary or primary AIMF, sAIMF/pAIMF, respectively). Unlike primary myelofibrosis (PMF), AIMF responds well to immunosuppressive therapy with a benign clinical course. Diagnostic criteria for AIMF in opposition to PMF have been lacking, though recent work has helped better characterise molecular and pathological features of AIMF, improving diagnostic precision. METHODS: Using a modern clinical and pathophysiological understanding of AIMF, we apply scoping review methodology and rigorous case-criteria to retrospectively analyse the case literature. We examine its patient-population, describing patient-associated factors, presentation, bone marrow pathology, genetics, treatment and outcomes. RESULTS: Fifty-five studies were identified, describing 139 AIMF patients. Patients were mostly young females (~4:1 ratio female:male, median age 40.8 years) and typically presented with cytopenias. Splenomegaly was rare. sAIMF was more common than pAIMF (~3:1 ratio), and most cases responded well to immunosuppressive therapy. CONCLUSIONS: Our results strengthen the emerging picture of AIMF's patient population, natural history and response to treatment. Further work should continue to use reproducible diagnostic criteria, and explore AIMF's pathophysiology, response to different therapies, and sequelae over larger timescales, as well as differences between pAIMF, sAIMF and PMF.

Propofol misuse in medical professions: a scoping review.

PURPOSE: We aimed to describe the current literature concerning propofol misuse in medical professionals, specifically relating to the individual demographics of those misusing propofol and the outcomes of propofol misuse. METHODS: We conducted a retrospective scoping review of the literature using a modified PRISMA approach. We used MEDLINE, EMBASE, and PsycINFO databases to identify relevant studies based on search terms. Studies describing individual medical professionals misusing propofol were included. RESULTS: Twenty-four articles describing 88 individual cases of propofol misuse were included for data charting and analysis. Anesthesiologists and certified registered nurse anesthetists were most commonly identified. Death was a common method of identification of misuse, while rehabilitation and death were common final outcomes associated with propofol misuse. CONCLUSIONS: Despite knowledge of the pharmacokinetic and pharmacodynamic properties of propofol by those misusing this medication, death was a common outcome reported in the literature. Data related to long-term outcomes including re-entry to clinical practice or success of rehabilitation were limited.

RéSUMé: OBJECTIF: Nous avons cherché à décrire la littérature actuelle concernant l'abus de propofol chez les professionnels de la santé, en particulier en ce qui concerne les données démographiques individuelles de ceux qui abusent du propofol et les issues d'un tel abus. MéTHODE: Nous avons réalisé une étude de portée rétrospective de la littérature à l'aide d'une approche PRISMA modifiée. Nous avons utilisé les bases de données MEDLINE, EMBASE et PsycINFO pour identifier les études pertinentes en fonction des termes de recherche. Les études décrivant des professionnels de la santé abusant du propofol ont été incluses. RéSULTATS: Vingt-quatre articles décrivant 88 cas individuels d'abus de propofol ont été inclus pour la cartographie et l'analyse des données. Les anesthésiologistes et les infirmières anesthésistes autorisées certifiées ont été le plus souvent identifiés. La mort était une méthode courante d'identification de l'abus, tandis que la réhabilitation et la mort étaient des issues finales fréquemment associées à l'abus de propofol. CONCLUSION: Malgré la connaissance des propriétés pharmacocinétiques et pharmacodynamiques du propofol par ceux qui abusent de ce médicament, le décès était une issue fréquente rapportée dans la littérature. Les données relatives aux issues à long terme, y compris le retour à la pratique clinique ou le succès de la réhabilitation, étaient limitées.

Associations of the MUC5B promoter variant with timing of interstitial lung disease and rheumatoid arthritis onset.

OBJECTIVES: To investigate the associations of the common MUC5B promoter variant with timing of RA-associated interstitial lung disease (RA-ILD) and RA onset. METHODS: We identified patients with RA meeting 2010 ACR/EULAR criteria and available genotype information in the Mass General Brigham Biobank, a multihospital biospecimen and clinical data collection research study. We determined RA-ILD presence by reviewing all RA patients who had CT imaging, lung biopsy or autopsy results. We determined the dates of RA and RA-ILD diagnoses by manual records review. We examined the associations of the MUC5B promoter variant (G>T at rs35705950) with RA-ILD, RA-ILD occurring before or within 2 years of RA diagnosis and RA diagnosis at age >55 years. We used multivariable logistic regression to estimate odds ratios (ORs) for each outcome by MUC5B promoter variant status, adjusting for potential confounders including genetic ancestry and smoking. RESULTS: We identified 1005 RA patients with available genotype data for rs35705950 (mean age 45 years, 79% female, 81% European ancestry). The MUC5B promoter variant was present in 155 (15.4%) and was associated with RA-ILD [multivariable OR 3.34 (95% CI 1.97, 5.60)], RA-ILD before or within 2 years of RA diagnosis [OR 4.01 (95% CI 1.78, 8.80)] and RA onset after age 55 years [OR 1.52 (95% CI 1.08, 2.12)]. CONCLUSIONS: The common MUC5B promoter variant was associated with RA-ILD onset earlier in the RA disease course and older age of RA onset. These findings suggest that the MUC5B promoter variant may impact RA-ILD risk early in the RA disease course, particularly in patients with older-onset RA.

Outcomes of rotational atherectomy followed by cutting balloon versus plain balloon before drug-eluting stent implantation for calcified coronary lesions: A meta-analysis.

OBJECTIVE: The aim of this study is to compare outcomes of rotational atherectomy and cutting balloon (RACB) versus rotational atherectomy and plain balloon (RAPB) before drug-eluting stent (DES) implantation in calcified coronary lesions. METHODS: Randomized controlled trials (RCT) and observational studies comparing RACB with RAPB were identified through a systematic search of published literature across multiple databases. Random effect meta-analysis was performed to compare the outcome between the two groups. RESULTS: Four studies were included in the meta-analysis (three observational and one RCT) involving a total of 315 patients. 166 patients had RACB, and 149 patients had RAPB before DES placement with a median follow-up of 11.5 months. Compared with patients who had RAPB there was no difference in MACE (composite of death, myocardial infarction, and target vessel revascularization) (odds ratio [OR]: 0.74; 95% confidence interval [CI]: 0.25-2.18], slow flow/no reflow (OR: 0.71; 95% CI: 0.23-2.16), all-cause mortality (OR: 2.02; 95% CI: 0.28-14.60), and device success rate (OR: 1.79; 95% CI: 0.28-11.18) in the RACB approach. There was a benefit towards less target lesion revascularization in the RACB group; however, this outcome was reported in two studies (OR: 0.29; 95% CI: 0.08-0.99). On meta-regression there was no association between age, sex, diabetes, or lesion location with MACE and all-cause mortality. The studies were homogenous across all outcomes. CONCLUSION: RACB, as compared with RAPB, had a similar risk of MACE, all-cause mortality, device success, and complication, but a lower risk of target lesion revascularization.

Movement markers of schizophrenia: a detailed analysis of patients' gait patterns.

Motor abnormalities occur in the majority of persons with schizophrenia but are generally neglected in clinical care. Psychiatric diagnostics fail to include quantifiable motor variables and few assessment tools examine full-body movement. We assessed full-body movement during gait of 20 patients and 20 controls with motion capture technology, symptom load (PANSS, BPRS) and Neurological Soft Signs (NSS). In a data-driven analysis, participants' motion patterns were quantified and compared between groups. Resulting movement markers (MM) were correlated with the clinical assessment. We identified 16 quantifiable MM of schizophrenia. While walking, patients and controls display significant differences in movement patterns related to posture, velocity, regularity of gait as well as sway, flexibility and integration of body parts. Specifically, the adjustment of body sides, limbs and movement direction were affected. The MM remain significant when controlling for medication load. They are systematically related to NSS. Results add assessment tools, analysis methods as well as theory-independent MM to the growing body of research on motor abnormalities in schizophrenia.

Impact of technology-based interventions on linking potential kidney donors and transplant candidates: a scoping review.

Despite the demonstrated survival advantage in end-stage kidney disease (ESKD) patients of a preemptive living donor kidney transplantation (LDKT), there has been a decline in LDKT among African American and Hispanic populations. We performed a scoping review and summarized the evidence about the use of technology-based interventions (TBI) to not only increase knowledge and awareness of LDKT but also link living donors with transplant candidates. We evaluated 31 studies and characterized them into "transplant-candidate facing" TBI, "transplant donor facing" TBI, and "interactive websites" targeting both donors and candidates. For the patient-facing interventions, 60% of studies suggested an increased likelihood of linking possible donors and candidates. The donor-facing interventions showed an increase in donor awareness and 75% of these interventions suggested increasing donor-candidate linkage. This study also demonstrates that TBI (regardless of medium) that are accessible and customized to the specific target population can potentially increase linkage of donors to recipients and serve as effective guides to connect potential donors to transplant candidates.

Systematic Review of Electronic Cigarette Use (Vaping) and Mental Health Comorbidity Among Adolescents and Young Adults.

INTRODUCTION: The prevalence of electronic cigarette (EC) use has risen dramatically among adolescents and young adults (AYA, ages 12-26) over the past decade. Despite extensive established relationships between combustible cigarette use and mental health problems, the mental health comorbidities of EC use remain unclear. AIMS AND METHODS: To provide a systematic review of existing literature on mental health comorbidities of EC use among AYA. Database searches using search terms related to EC, AYA, and mental health identified 1168 unique articles, 87 of which prompted full-text screening. Multiple authors extracted data, applied the Effective Public Health Practice Project Quality Assessment Tool to evaluate the evidence, and synthesized findings. RESULTS: Forty articles met eligibility criteria (n = 24 predominantly adolescent and 16 predominantly young adult). Analyses yielded three main categories of focus: internalizing disorders (including depression, anxiety, suicidality, eating disorders, post-traumatic stress disorder), externalizing disorders (attention-deficit/hyperactivity disorder and conduct disorder), and transdiagnostic concepts (impulsivity and perceived stress). Significant methodological limitations were noted. CONCLUSIONS: Youth EC use is associated with greater mental health problems (compared with nonuse) across several domains, particularly among adolescents. Because many existing studies are cross-sectional, directionality remains uncertain. Well-designed longitudinal studies to investigate long-term mental health sequelae of EC use remain needed. IMPLICATIONS: Forty recent studies demonstrate a variety of mental health comorbidities with AYA EC use, particularly among adolescents. Mental health comorbidities of EC use generally parallel those of combustible cigarette use, with a few exceptions. Future EC prevention and treatment strategies may be enhanced by addressing mental health.

Inhalants other than personal cigarette smoking and risk for developing rheumatoid arthritis.

PURPOSE OF REVIEW: The current review summarizes the current evidence on inhalants other than personal cigarette smoking and risk for developing rheumatoid arthritis (RA). RECENT FINDINGS: Personal cigarette smoking has been implicated as an environmental risk factor for seropositive RA, perhaps by inducing autoimmunity at pulmonary mucosa. Since many patients with RA are nonsmokers, other inhalants are being investigated as potential RA risk factors. Recent case-control and cohort studies have investigated passive cigarette smoking, air pollution, inhalant-related occupations, silica, pesticides, household environment, and allergic inhalants as inhalant exposures for RA risk. Inhalant-related occupations and silica inhalants have the most consistent evidence for associations with increased RA risk. However, most studies relied on retrospective designs and had limited ability to adjust for personal cigarette smoking or investigate associations among nonsmokers. SUMMARY: Several inhalants other than personal cigarette smoking may be associated with increased risk for developing RA. These results support the hypothesis that inhalants, pulmonary mucosal inflammation, and RA pathogenesis may be linked. Future studies are needed to firmly establish the independence of these findings from personal cigarette smoking and to determine the specific inhalants and biologic mechanisms related to RA pathogenesis.

Diagnosing Prosthetic Joint Infections in Patients With Inflammatory Arthritis: A Systematic Literature Review.

BACKGROUND: Patients with inflammatory arthritis (IA) are at increased risk of prosthetic joint infections (PJI), yet differentiating between septic and aseptic failure is a challenge. The aim of our systematic review is to evaluate synovial biomarkers and their efficacy at diagnosing PJI in patients with IA. METHODS: A comprehensive literature search was performed in the following databases from inception to January 2018: Ovid MEDLINE, Ovid EMBASE, and the Cochrane Library. Searches across the databases retrieved 367 results. Two of 5 reviewers independently screened a total of 298 citations. Discrepancies were resolved by a third reviewer. Twenty articles fit our criteria, but due to methodological differences findings could not be pooled for meta-analysis. For 5 studies, raw data were provided, pooled, and used to derive optimal diagnostic cut points. RESULTS: Our final analysis included 1861 non-IA patients, including 426 patients with PJI, and 90 IA patients of whom 26 had PJI. There was a significant difference among the 4 groups for serum C-reactive protein (CRP), erythrocyte sedimentation rate, and synovial CRP, polymorphonuclear neutrophil percent, white blood cells, interleukin (IL)-6, IL-8, and IL-1b. Polymorphonuclear neutrophil percent had the highest sensitivity (95.2%) and specificity (85.0%) to detect infections with an optimum threshold of 78%. CONCLUSION: While levels of synovial white blood cells, IL-6, IL-8, and serum CRP appear higher in patients with IA, there is overlap with those who are not infected. Further studies are needed to explore diagnostic tests that will better detect PJI in patients with IA.

Involvement of information professionals in patient- and family-centered care initiatives: a scoping review.

OBJECTIVE: The goal of this scoping review was to collect data on patient- and family-centered care (PFCC) programs and initiatives that have included the direct involvement of librarians and information professionals to determine how librarians are involved in PFCC and highlight opportunities for librarians to support PFCC programs. METHODS: Systematic literature searches were conducted in seven scholarly databases in the information, medical, and social sciences. Studies were included if they (1) described initiatives presented explicitly as PFCC programs and (2) involved an information professional or librarian in the PFCC initiative or program. Based on the definition of PFCC provided by the Institute for Patient- and Family-Centered Care, the authors developed a custom code sheet to organize data elements into PFCC categories or initiatives and outcomes. Other extracted data elements included how the information professional became involved in the program and a narrative description of the initiatives or programs. RESULTS: All included studies (n=12) identified patient education or information-sharing as an integral component of their PFCC initiatives. Librarians were noted to contribute to shared decision-making through direct patient consultation, provision of health literacy education, and information delivery to both provider and patient with the goal of fostering collaborative communication. CONCLUSIONS: The synthesis of available evidence to date suggests that librarians and information professionals should focus on patient education and information-sharing to support both patients or caregivers and clinical staff. The burgeoning efforts in participatory care and inclusion of patients in the decision-making process pose a unique opportunity for librarians and information professionals to offer more personalized information services.

[Conceptions of "transcultural competence" and their relevance for the psychiatric-psychotherapeutic care. Results of an interdisciplinary literature review]. / Konzeptionen von "transkultureller Kompetenz" und ihre Relevanz für die psychiatrisch-psychotherapeutische Versorgung. Ergebnisse eines disziplinübergreifenden Literaturreviews.

The concept of transcultural competence is increasingly discussed in Germany as a requirement for providing adequate psychiatric-psychotherapeutic care for persons with a migration background. To this day, understanding of this concept is heterogeneous. This overview aims at systemizing existing definitions of transcultural competence in psychology, medicine and related fields to improve understanding of the term in practice. 130 German and English language scientific papers were analyzed and were evaluated qualitatively with grounded theory method. The analysis produced 3 approaches: a technological approach, a component approach and a positioning-and-attitude approach. The suggested categorization of the understandings of the term transcultural competence allows for a detailed overview of the current definitions of this term and thus provides criteria for a better evaluation of implemented transcultural competence in fields of psychiatric-psychotherapeutic care.

Systematic review and meta-analysis evaluating clinical outcomes in adult acute myeloid leukemia patients with central nervous system involvement.

Patients with acute myeloid leukemia (AML) may experience extramedullary involvement when disease is present outside of the blood and bone marrow. In particular, the presence of central nervous system (CNS) involvement has traditionally been thought of as a poor prognostic factor. In the presently available literature, there is a paucity of conclusive data surrounding CNS AML given its rarity and lack of unified screening practices. Thus, we performed a systematic review and meta-analysis in order to more definitively characterize survival outcomes in this patient population. In this meta-analysis, we evaluated survival outcomes and response rates from clinical studies on patients with AML stratified by the presence of CNS involvement. Twelve studies were included in the meta-analysis with a resulting hazard ratio (HR) for overall survival (OS) of 1.34 with a 95 % CI of 1.14 to 1.58. These findings suggest that CNS involvement in adult patients with AML is associated with an increased hazard of mortality compared to those patients without CNS involvement. As such, CNS involvement should be viewed as negative prognostic marker, and attention should be made to ensure prompt identification and treatment of patients who experience this complication.

Cellular and Molecular Effects of Steroid Sex Hormones on the Vocal Folds: A Scoping Review.

OBJECTIVE: Steroid sex hormones (SSH) target cell nuclei to affect transcription. Although laryngeal tissue is theorized to be hormonally responsive, SSH receptor presence and cellular effects on the vocal folds are not well-established. A scoping review of this literature might inform future research. DATA SOURCES: Medline, Embase, Scopus, and Web of Science were searched. REVIEW METHODS: This review followed JBI and PRISMA-ScR Guidelines. Two independent reviewers screened each title/abstract and full text according to eligibility criteria. Exclusion criteria included primary outcomes based on subjective interpretation and secondary effects on the vocal folds (e.g., voice). RESULTS: Three hundred and sixty one articles were screened at the title/abstract level, 83 at the full-text level, and 32 met inclusion criteria. Fourteen studies were performed in humans and 15 in animals; 3 were review articles. In studies directly examining receptors (n = 17), estrogen receptors (ER) were found in 10 of 15 studies, progesterone receptors (PR) in 6/10, and androgen receptors (AR) in 6/9. When the effects of SSH on vocal folds were studied (n = 16), estrogen had effects in 10/13, progesterone in 3/3, and androgens in 4/5. ER and PR were mostly identified in epithelium and fibroblasts of lamina propria (LP) while AR was found in muscle, lamina propria, and epithelium. CONCLUSIONS: Existing evidence variably supports the presence of SSH receptors in vocal fold tissue; therefore, further clarification is needed. Estrogen and progesterone were most identified in mucosal tissue, where they decrease fibrosis and help maintain the epithelial barrier. Androgens appear to be pro-fibrotic in epithelium and hypertrophic in muscle. Laryngoscope, 2024.

Psychosocial interventions to improve sexual functioning in women with cancer: a systematic review of randomized controlled trials.

INTRODUCTION: Many women with cancer struggle with sexual side effects during and after treatment. Although preliminary evidence indicates that psychosocial interventions may be efficacious in improving sexual functioning for women with cancer, no systematic review has summarized the state of the science in this area. OBJECTIVES: The primary goal of this review was to narratively synthesize the results of randomized controlled trials (RCTs) testing the efficacy of psychosocial interventions to address sexual dysfunction in women with cancer. A secondary goal was to describe the diversity of the included samples (ie, racial/ethnic and sexual minority). METHODS: Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, a systematic review was conducted examining RCTs of psychosocial interventions to improve sexual functioning for women with cancer. Articles were identified using MEDLINE, Embase, PsycINFO, and Cochrane CENTRAL. Two reviewers independently assessed each article for inclusion, with a third to resolve discrepancies. RESULTS: Seventeen studies were included in the review, 12 of which provided sufficient information to calculate effect sizes. Ten of the 12 studies primarily aimed to improve sexual functioning, all of which demonstrated positive effects on at least 1 outcome of sexual functioning. In the 2 RCTs of psychosocial interventions in which sexual function was a secondary aim, effects were negligible (ds = -0.04 and -0.15). Commonalities among the studies with large effect sizes were that they included education, mindfulness/acceptance, and communication/relationship skills as intervention components. Of note, there was an overall lack of sample diversity across studies, and most studies failed to report the race/ethnicity or sexual orientation of the participants. CONCLUSION: Results support interventions targeting sexual functioning outcomes for women with cancer and suggest that multimodal interventions including education, mindfulness/acceptance, and communication/relationship skills may be most effective. Future research should also focus on examining the efficacy and potential adaptations of extant sexual functioning interventions for underrepresented groups.

An experimental paradigm for triggering a depressive syndrome.

Research investigating whether depression is an adaptation or a disorder has been hindered by the lack of an experimental paradigm that can test causal relationships. Moreover, studies attempting to induce the syndrome often fail to capture the suite of feelings, thoughts, and behaviors that characterize depression. An experimental paradigm for triggering depressive symptoms can improve our etiological understanding of the syndrome. The present study attempts to induce core symptoms of depression, particularly those related to rumination, in a healthy, nonclinical sample through a controlled social experiment. These symptoms are sad or depressed mood, anhedonia, feelings of worthlessness or guilt, and difficulty concentrating. One hundred and thirty-four undergraduate students were randomly assigned to either an exclusion (E) or control (C) group. Participants in the exclusion group were exposed to a modified Cyberball paradigm, designed to make them feel socially excluded, followed by a dual-interference task to assess whether their exclusion interfered with their working memory. Excluded participants: (a) self-reported a significant increase in sadness and decrease in happiness, but not anxiety or calmness; (b) scored significantly higher in four of five variables related to depressive rumination; and (c) performed significantly worse on a dual-interference task, suggesting an impaired ability to concentrate. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Systematic review: Scores used to predict outcomes in acute severe ulcerative colitis.

Predictive scores for ASUC outcomes according to time of application.