Risk perceptions and risk-averse attitude influenced older patients' first-diagnosis-seeking behaviour at tertiary hospitals.

OBJECTIVE: This qualitative study aimed to investigate the associations of older patients' inappropriate healthcare-seeking behaviour at tertiary hospitals in China with their risk perceptions and attitude. METHODS: The study was based on nine focus group interviews (involving 41 older patients, with three to six per group) and involved the grounded theory method. The participants were recruited at tertiary hospitals. RESULTS: The results of this study showed that older patients' inappropriate first-diagnosis-seeking behaviour at tertiary hospitals was impacted by their risk perceptions and risk-averse attitude. Both external factors (family/friends and the Internet) and internal factors (preferences and habits) had played important roles in related processes. CONCLUSION: Thus, to guide older patients' healthcare-seeking behaviour, changing the thoughts and behaviour of the older patients themselves, their spouses, adult children, other relatives, and friends are all important. More attention should be paid on guiding appropriate risk perceptions and attitude regarding lower-level medical institutions, increasing their preferences and habit formation regarding lower-level medical institutions, enhancing older patients' social support and improving and standardising online health information. These are important for the future development of the hierarchical medical system in China.

Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.

Biobanks with exomes linked to electronic health records (EHRs) enable the study of genetic pleiotropy between rare variants and seemingly disparate diseases. We performed robust clinical phenotyping of rare, putatively deleterious variants (loss-of-function [LoF] and deleterious missense variants) in ERCC6, a gene implicated in inherited retinal disease. We analyzed 213,084 exomes, along with a targeted set of retinal, cardiac, and immune phenotypes from two large-scale EHR-linked biobanks. In the primary analysis, a burden of deleterious variants in ERCC6 was strongly associated with (1) retinal disorders; (2) cardiac and electrocardiogram perturbations; and (3) immunodeficiency and decreased immunoglobulin levels. Meta-analysis of results from the BioMe Biobank and UK Biobank showed a significant association of deleterious ERCC6 burden with retinal dystrophy (odds ratio [OR] = 2.6, 95% confidence interval [CI]: 1.5-4.6; p = 8.7 × 10-4 ), atypical atrial flutter (OR = 3.5, 95% CI: 1.9-6.5; p = 6.2 × 10-5 ), arrhythmia (OR = 1.5, 95% CI: 1.2-2.0; p = 2.7 × 10-3 ), and lymphocyte immunodeficiency (OR = 3.8, 95% CI: 2.1-6.8; p = 5.0 × 10-6 ). Carriers of ERCC6 LoF variants who lacked a diagnosis of these conditions exhibited increased symptoms, indicating underdiagnosis. These results reveal a unique genetic link among retinal, cardiac, and immune disorders and underscore the value of EHR-linked biobanks in assessing the full clinical profile of carriers of rare variants.

Relationship between Clinical Features of Diabetic Retinopathy and Systemic Factors in Patients with Newly Diagnosed Type II Diabetes Mellitus.

BACKGROUND: We investigated the relationship between clinical features of diabetic retinopathy (DR) and systemic factors in patients with newly diagnosed type II diabetes mellitus (T2DM). METHODS: Retrospective review of newly diagnosed T2DM-patients who underwent complete ophthalmic examinations at the time of T2DM diagnosis were conducted. We reviewed DM related systemic factor data and investigated systemic factors related to the presence of DR at T2DM diagnosis. In DR patients, the relationship between DR severity and systemic factors was analyzed. RESULTS: Of 380 patients, forty (10.53%) patients had DR at the initial ophthalmologic examination. Glycated hemoglobin (HbA1C), fasting plasma glucose (FPG), urine albumin to creatinine ratio (UACR), and urine microalbumin level were significantly higher in DR patients than in patients without DR. In the multivariate logistic regression analysis, high HbA1C was a significant risk factor for the presence of DR at new T2DM diagnosis (odds ratio, 2.372; P < 0.001). HbA1C, FPG, UACR, and urine microalbumin level showed significantly positive correlations with DR severity . CONCLUSION: In patients with newly diagnosed T2DM, 10.53% have DR at initial ophthalmologic examination and high HbA1C, FPG, UACR and urine microalbumin levels. These factors are significantly positively correlated with DR severity. Therefore, more careful fundus examination is needed for newly diagnosed T2DM patients with high HbA1C, FPG, UACR, and urine microalbumin levels.

[Fever in systemic lupus erythematosus: disease exacerbation or infection?] / Fieber bei systemischem Lupus erythematodes: Krankheitsschub oder Infektion?

The differential diagnosis of fever, especially in the context of autoimmune diseases is broad. Accordingly, the spectrum of diagnostic procedures is extensive and the therapeutic consequences are partly contradictory. Fever is basically the manifestation of an increased cell proliferation, such as classically seen in tumors, infections or autoimmune inflammation. Systemic lupus erythematosus (SLE) is one of the most multifaceted rheumatological diseases. Fever is one component of the new classification criteria which help to classify and possibly diagnose SLE. The differential work-up of fever is a special challenge for clinicians particularly in the context of the initial diagnosis of SLE or another autoimmune disease and also in the course of the disease in patients with autoimmune diseases. Based on a case report this article discusses differential diagnostic considerations and proposes a concrete differential diagnostic procedure. The patient's history is highlighted as an extremely important source of relevant information. Without claiming completeness various factors are listed, which help to differentiate fever as a consequence of SLE activity versus fever as a consequence of an infection.

[Prevalence of patients with HIV receiving outpatient medical care in Germany-an analysis based on secondary data]. / Häufigkeiten von Patienten mit HIV in der ambulanten Versorgung in Deutschland ­ Eine Analyse auf Basis von Sekundärdaten.

BACKGROUND: The Robert Koch Institute (RKI) annually publishes an estimate of the number of new HIV diagnoses and the total number of people diagnosed with HIV in Germany. So far, only medication prescription data have served as secondary data as a basis for such estimates. OBJECTIVES: In this study, we used billing data from the outpatient sector to estimate the number of patients with newly diagnosed HIV, the overall number of patients with HIV, and the HIV test rates in those with statutory health insurance in Germany. MATERIALS AND METHODS: We analyzed billing data from the outpatient sector for all persons covered by statutory health insurance between 2009 and 2018. We designed annual cohorts of patient for the years 2011 to 2017 and analyzed the number of HIV diagnoses, the number of HIV-related care services, and HIV testing rates. RESULTS: Every year, about 6000 new patients with HIV are treated in outpatient care. The total number of patients with HIV in 2011 was about 59,300 (0.106%), which increased to 80,800 (0.141%) in 2017. The average increase in the total number of patients per year of about 3600 was significantly below the estimated number of newly treated patients for each year. CONCLUSION: The results may provide an indication of patients receiving HIV care in the outpatient sector. The secondary data provide the possibility of developing another epidemiological data source for population-based representation of the administrative prevalence of HIV. To clarify over-representation, there is a need for further research on patients who are using outpatient care for the first time.

[Clinical analysis and literature review of 7 cases of plasmacytoma first diagnosed with head and neck symptoms].

Objective:In order to better understand the condition and provide the groundwork for early detection and treatment of plasmacytomas, it is important to examine the clinical characteristics, therapeutic options, and effectiveness of plasmacytomas that are initially identified with head and neck symptoms. Methods:Retrospective analysis, evaluation, and discussion of the clinical data of 7 patients with plasmacytoma initially diagnosed with head and neck symptoms and admitted to the Affiliated Hospital of Qingdao University during the period of June 2013 to November 2022 was done in combination with pertinent literature. Results:All seven patients were diagnosed with plasmacytoma by histopathology, with lesions located in the nasopharyngeal oropharynx in 4 cases, nasal sinuses in 2 cases, and ventricular zone in 1 case. Clinical manifestations and imaging were atypical, with localized manifestations, of which 2 cases were accompanied by multiple skeletal lesions throughout the body, and 4 cases had lymph node metastasis. Surgery was preferred for all patients, and individualized treatment was recommended after surgery. Of the 7 patients, 3 patients underwent surgery and chemotherapy, 2 patients underwent surgery and radiotherapy and chemotherapy, 1 patient underwent surgery and radiotherapy, and 1 case was treated with surgery only. The follow-up period was 3-60 months, with a 100% follow-up rate. 5 cases were alive and 2 cases died of multiple myeloma after 4-5 years Conclusion:Plasmacytomas first diagnosed with head and neck symptoms are rare, and extramedullary plasmacytomas have a better prognosis, while more advanced multiple myeloma has a poorer prognosis; Therefore, enhancing the quality of survival as well as the duration of survival for patients with plasmacytomas requires early diagnosis and individualized treatment.

Treatment of Metastatic Melanoma at First Diagnosis: Review of the Literature.

Metastatic melanoma (MM) is a pathological entity with a very poor prognosis that, until a few decades ago, had a low response rate to systemic treatments. Fortunately, in the last few years, new therapies for metastatic melanoma have emerged. Currently, targeted therapy and immunotherapy are the mainstays of the therapeutic arsenal available for patients with unresectable or metastatic melanoma. However, both clinical evolution and drug efficacy in melanoma patients are very different depending on the stage at which it is diagnosed. In fact, the aggressiveness of melanoma is different depending on whether it debuts directly as metastatic disease or if what occurs is a relapse after a first diagnosis at an early stage, although the biological determinants are largely unknown. Another key aspect in the clinical management of metastatic melanoma at first diagnosis strives in the different prognosis of melanoma of unknown primary (MUP) compared to melanoma of known primary (MPK). Understanding the mechanisms behind this, and the repercussion of implementing targeted and immune therapies in this specific form is crucial for designing diagnosis and treatment decision algorithms that optimize the current strategies. In this review article, we recapitulate the information available thus far regarding the epidemiology and response to immunotherapy treatments or targeted therapy in patients diagnosed with metastatic melanoma as a first diagnosis, with especial emphasis on the emerging specific information of the subpopulation formed by MUP patients.

Still Left Behind: Fewer Black School-Aged Youth Receive ASD Diagnoses Compared to White Youth.

Prior research suggests that Black children are at risk for delays in diagnosis of autism, but factors that influence diagnostic timing across races remain unclear. This study analyzed data from Black and White children who received a first-time autism diagnosis at a specialty clinic. Black youth were under-represented in the group who received a first diagnosis in middle/late childhood (i.e., after age six). Receiving a diagnosis later in childhood was related to higher IQ (trend level) and more internalizing problems for White children whereas it was related to lower IQ (trend level) and higher ASD symptom intensity for Black children. Findings suggest racial disparities in early identification of autism may be diminishing but persist among those diagnosed later in childhood..

Did patients with COVID-19 receive timely treatment in the early epidemic?-a systematic review and meta-analysis.

BACKGROUND: Corona virus disease 2019 (COVID-19) showed a significant difference in case fatality rate between different regions at the early stage of the epidemic. In addition to the well-known factors such as age structure, detection efficiency, and race, there was also a possibility that medical resource shortage caused the increase of the case fatality rate in some regions. METHODS: Medline, Cochrane Library, Embase, Web of Science, CBM, CNKI, and Wanfang of identified articles were searched through 29 June 2020. Cohort studies and case series with duration information on COVID-19 patients were included. Two independent reviewers extracted the data using a standardized data collection form and assessed the risk of bias. Data were synthesized through description and analysis methods including a meta-analysis. RESULTS: A total of 109 articles were retrieved. The time interval from onset to the first medical visit of COVID-19 patients in China was 3.38±1.55 days (corresponding intervals in Hubei province, non-Hubei provinces, Wuhan, Hubei provinces without Wuhan were 4.22±1.13, 3.10±1.57, 4.20±0.97, and 4.34±1.72 days, respectively). The time interval from onset to the hospitalization of COVID-19 patients in China was 8.35±6.83 days (same corresponding intervals were 12.94±7.43, 4.17±1.45, 14.86±7.12, and 5.36±1.19 days, respectively), and when it was outside China, this interval was 5.27±1.19 days. DISCUSSION: In the early stage of the COVID-19 epidemic, patients with COVID-19 did not receive timely treatment, resulting in a higher case fatality rate in Hubei province, partly due to the relatively insufficient and unequal medical resources. This research suggested that additional deaths caused by the out-of-control epidemic can be avoided if prevention and control work is carried out at the early stage of the epidemic. TRIAL REGISTRATION: CRD42020195606.

First diagnosis of psychosis in the prison: results from a data-linkage study.

BACKGROUND: Psychosis is more prevalent among people in prison compared with the community. Early detection is important to optimise health and justice outcomes; for some, this may be the first time they have been clinically assessed. AIMS: Determine factors associated with a first diagnosis of psychosis in prison and describe time to diagnosis from entry into prison. METHOD: This retrospective cohort study describes individuals identified for the first time with psychosis in New South Wales (NSW) prisons (2006-2012). Logistic regression was used to identify factors associated with a first diagnosis of psychosis. Cox regression was used to describe time to diagnosis from entry into prison. RESULTS: Of the 38 489 diagnosed with psychosis for the first time, 1.7% (n = 659) occurred in prison. Factors associated with an increased likelihood of being diagnosed in prison (versus community) were: male gender (odds ratio (OR) = 2.27, 95% CI 1.79-2.89), Aboriginality (OR = 1.81, 95% CI 1.49-2.19), older age (OR = 1.70, 95% CI 1.37-2.11 for 25-34 years and OR = 1.63, 95% CI 1.29-2.06 for 35-44 years) and disadvantaged socioeconomic area (OR = 4.41, 95% CI 3.42-5.69). Eight out of ten were diagnosed within 3 months of reception. CONCLUSIONS: Among those diagnosed with psychosis for the first time, only a small number were identified during incarceration with most identified in the first 3 months following imprisonment. This suggests good screening processes are in place in NSW prisons for detecting those with serious mental illness. It is important these individuals receive appropriate care in prison, have the opportunity to have matters reheard and possibly diverted into treatment, and are subsequently connected to community mental health services on release. DECLARATION OF INTEREST: None.