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Age at autism diagnosis is associated with sex assigned at birth (hereafter, "sex"), such that girls/women are more likely to be delayed or "missed" entirely in the diagnostic process compared to boys/men. Later diagnosed individuals, especially girls/women, demonstrate increased anxious/depressive symptoms. Data on autistic youth from clinic-based (n = 1035; 22.9% assigned female) and sex-balanced research-based (n = 128; 43% assigned female) samples were probed via regression-based mediation models to understand relationships between diagnostic age, sex, and symptoms of anxiety/depression. We hypothesized diagnostic age would mediate the relationship between sex and anxious/depressive symptoms. In both samples, later diagnostic age predicted greater anxious and depressive symptoms, and sex did not directly predict anxious symptoms. In the clinic-based but not the research-based sample, individuals assigned female at birth were later diagnosed than those assigned male, and there was a significant indirect effect of sex on anxious and depressive symptoms through diagnostic age, such that those assigned female and later diagnosed experienced greater symptoms. Within the research-based sample only, sex predicted depressive symptoms. The present study provides an important impetus for further evaluating the implications of diagnostic timing, enhancing tools for recognizing autism in individuals assigned female at birth, and grounding research with real-world ascertainment strategies. Previous research has shown that girls/women are diagnosed later than boys/men with autism. Individuals who are diagnosed later in life, especially girls/women, have greater anxious and depressive symptoms. Previous research has been limited due to narrow inclusionary criteria for enrollment in studies. The present study uses two samples—one clinic-based, large "real-world" sample and another research-based sample with strict criteria for autism diagnosis—to understand the relationships between diagnostic age, sex assigned at birth, and symptoms of anxiety/depression. In both samples, those who were diagnosed later had greater anxious/depressive symptoms, and anxiety was not predicted by sex. In the clinic-based but not research-based sample, those assigned female at birth were diagnosed later than those assigned male at birth. In the clinic-based sample only, individuals assigned female at birth and who were later diagnosed experienced greater symptoms of anxiety/depression compared to those assigned male who benefited from earlier diagnostic timing. Within the research-based sample, those assigned female at birth had greater depressive symptoms than those assigned male. These findings highlight the importance of timely identification of autism, especially for girls/women who are often diagnosed later. Community-based samples are needed to better understand real-world sex-based and diagnostic age-based disparities in mental health. [ABSTRACT FROM AUTHOR]

Objective: To assess the unmet needs of South Africans with axial spondyloarthritis (axSpA) focusing on the patient journey, functional disability, and health-related quality of life. Methods: One hundred forty-six South African axSpA patients completed the International Map of Axial Spondyloarthritis (IMAS) online survey. Patient journey, functional disability, activities of daily living, and psychological stress were analyzed in relation to socio-demographic characteristics, disease activity, diagnostic delay, extra-musculoskeletal manifestations, and drug therapy. Results: Majority were female (82.2%) and Caucasian (89.7%) and the mean age of participants, age at onset of initial symptoms, and diagnostic delay were 44.7, 26.7, and 10.8 years, respectively. Participants reported a mean of 3.4 visits to healthcare professionals prior to a definitive diagnosis of axSpA, mostly made by rheumatologists (77.9%). Active disease (BASDAI ≥ 4) was reported by 87%, 69.9% suffered from psychological distress (general health questionnaire-12 score ≥ 3), and more than two-thirds suffered functional limitations in daily, personal, and social activities. Multivariable logistic analysis showed that active disease was more common in females [OR (95% CI) = 4.3 (1.2–15.2)] and was associated with greater functional limitation [OR (95% CI) = 1.1 (1.0–1.2)]. Conclusion: Of all the regions assessed in the IMAS (n = 5557 participants, 27 countries), South Africans reported the longest delay in diagnosis. The South African patient journey depicts a process burdened with diagnostic challenges and delays, coupled with patients experiencing significant personal and social limitations. These results emphasize the urgent need to establish local diagnostic and treatment guidelines for axSpA in South Africa, to reduce diagnostic delay, and to control disease activity associated with functional limitation in axSpA. Key Points • Axial spondyloarthritis (axSpA) in South Africans is associated with significant limitations in physical, mental, and social functioning. • First study to describe the unmet needs of South African patients with axSpA. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Objectives Search Strategy Selection Criteria Data Collection and Analysis Main Results Conclusions Endometriosis diagnosis reportedly faces delays of up to 10 years. Despite growing awareness and improved guidelines, information on the current status is limited.To systematically assess the published evidence on the status of time to diagnosis in individuals with endometriosis, with respect to the definition of time to diagnosis, geographical location and patient characteristics.MEDLINE (via PubMed) and Embase were searched for publications reporting time to diagnosing endometriosis since 2018. No restrictions to population or comparators were applied. All publications were screened by two independent reviewers.Search results were limited to primary publications of randomised controlled trials, non‐randomised trials and observational studies. Case reports, secondary publications and grey literature were excluded. No restrictions were made regarding language, provided that an English title and abstract were available.Publications were assessed with respect to time to diagnosis, diagnostic methods, study type, study country and potential bias.The 17 publications eligible for inclusion in this literature review were all observational studies. The publications reported diagnosis times between 0.3 and 12 years, with variations depending on the definition of time to diagnosis (overall, primary, or clinical), geographical location and characteristics of the included study population. Evidence was of poor to good quality overall.Diagnostic delay is still present, primarily driven by physicians, and this review underscores the need for standardised definitions, increased awareness and targeted diagnostic interventions. [ABSTRACT FROM AUTHOR]

Background: Diagnostic errors in multiple sclerosis (MS) impact patients and healthcare systems. Objectives: This study aimed to determine the prevalence of MS misdiagnosis and underdiagnosis, time delay in reaching a correct diagnosis and potential impact of sex. Methods: Systematic review and meta-analysis on MS diagnostic errors. Results: Out of 3910 studies, we included 62 for a qualitative synthesis and 24 for meta-analyses. Frequency of misdiagnosis (incorrect assignment of an MS diagnosis) ranged from 5% to 41%, with a pooled proportion based on six studies of 15% (95% CI: 9%–26%, n = 1621). The delay to rectify a misdiagnosis ranged from 0.3 to 15.9 years. Conversely, underdiagnosis (unrecognized diagnosis of MS) ranged from 3% to 58%, with a pooled proportion in four studies of 36% (95% CI: 20%–55%, n = 728). Pooling seven studies comprising 2851 individuals suggested a diagnostic delay to establish a correct MS diagnosis of 17.3 months (95% CI: 11.9–22.7) in patients underdiagnosed. In a meta-analysis of five studies, women were 2.1 times more likely to be misdiagnosed with MS compared to men (odds ratio, 95% CI: 1.53–2.86). Conclusion: This study provides summary-level evidence for the high prevalence of MS misdiagnosis and underdiagnosis. Future studies are needed to understand the causes of these diagnostic challenges in MS care. [ABSTRACT FROM AUTHOR]

Objective: We sought to correlate the time lag between psoriatic arthritis (PsA) symptom onset and diagnosis to the likelihood and severity of depression, social impairment, and disease impact on quality of life. Methods: This cross-sectional study conducted by the National Psoriasis Foundation (NPF) surveyed individuals with PsA using patient-reported outcome measures. Results: The analysis cohort comprised 2,196 patients with PsA. Likelihood of depression progressively increased when time between PsA symptom onset and diagnosis was beyond six months (28.6% <6 months; 29.6% 7–12 months; 38.1% 13–24 months; 35.4% >2 years; p<0.01). Individuals with more than six months delay reported increasingly higher rates of experiencing moderate limitation in social participation (22.9% <6 months; 29.2% 7–12 months; 34.0% 13–24 months; 35.3% >2 years; p<0.001). Unacceptable PsA symptom rates (PsAID score >4) increased with time between PsA symptom onset and diagnosis (74.7% <6 months; 76.4% 7–12 months; 80.8% 13–24 months; 81.6% >2 years; p<0.05). These relationships persisted in body mass index (BMI) and age adjusted models. Limitations: The study only includes participants who were active members of the NPF, and all data was self-reported. Conclusion: Our results demonstrate that delays between PsA symptom onset and diagnosis that are greater than six months lead to increased likelihoods of depression, social disengagement, and impaired quality of life, and that longer delays lead to increasingly worse outcomes in these domains. [ABSTRACT FROM AUTHOR]

Awareness of transthyretin amyloid cardiomyopathy (ATTR-CM) has increased over the years due to diagnostic and therapeutic developments. Timely initiation of novel disease-modifying treatments improves both morbidity and mortality, which underlines the necessity for a prompt diagnosis. Nevertheless, early diagnosis of ATTR-CM remains challenging. This is a retrospective observational cohort study of patients diagnosed with ATTR-CM. Between 2016 and 2023, 87 patients were diagnosed with cardiac amyloidosis of which 65 (75%) patients with ATTR-CM and 22 (25%) patients with light chain amyloidosis. This study included 65 ATTR-CM patients (mean age 77 ± 7 years; 86% male) of whom 59 (91%) with wild-type ATTR-CM (ATTRwt) and six (9%) with variant ATTR-CM. We observed a surge in ATTR-CM diagnoses from 3 patients/year (2016–2020) to 16 patients/year (2021–2023), driven by ATTRwt. Nevertheless, the interval between the onset of heart failure symptoms and ATTR-CM diagnosis has not changed significantly (2016–2020 27.3 months [18.6–62.4]; 2021–2023 30.0 months [8.6–57.2]; p = 0.546), driven by time to referral. Red flags for ATTR-CM preceded diagnosis by several years: left ventricular hypertrophy (79%, 5.8 years [3.3–7.0]) and carpal tunnel syndrome (49%, 6.8 years [2.3–12.1]). Despite the presence of typical red flags, symptom-to-diagnosis duration has remained similar driven by time to referral. Improved recognition of red flags for ATTR-CM could reduce the time to diagnosis and improve overall recognition. [ABSTRACT FROM AUTHOR]

Introduction: Lip and oral cavity cancer is the second most frequent cancer in India, accounting for more than 10% of the total cancer incidence in the country. Oral malignancies are frequently found and diagnosed at advanced stages, resulting in dismal survival rates. The influence of healthcare-related factors in the diagnostic interval of oral cancer remains poorly understood. Methods and material: This study followed the principles of the Aarhus statement for early cancer diagnosis research. Researchers non-selectively recruited 261 patients with histopathologically proven Squamous Cell Carcinoma of the oral cavity at the comprehensive Cancer Care Centre in Northern Kerala, India. They acquired information in direct patient interviews using validated instruments. They triangulated self-reported data with case notes, referral letters and biopsy results. Results: The median (Interquartile range) diagnostic interval reported by the study participants (n = 261) was 36.00 (14.00-76.50) days. The proportion of participants having diagnostic intervals of more than 30 days was 57.9% (n = 151). The predictors of diagnostic interval include 'Type of advice provided by the health care provider', Number of healthcare providers consulted in the diagnostic journey, 'Age of the participant', 'Monthly income' and 'Caste'. Conclusion: Nearly three-fifths of the study participants had diagnostic intervals that exceeded the acceptable limit, highlighting the need to streamline the facilities and processes required for early diagnosis of oral cancer. Strengthening the health system at the primary level by incorporating referral guidelines and in-service training of primary care practitioners will reduce diagnostic intervals for oral cancer. [ABSTRACT FROM AUTHOR]

Purpose: Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by the loss of motor neurons in the spinal cord and brainstem, leading to muscle atrophy and weakness. To understand the diagnostic process of Korean patients with SMA, we analyzed their clinical characteristics and challenges. Materials and Methods: We conducted a retrospective study of 38 patients with SMA (9 type II and 29 type III) between January 2000 and September 2023. Clinical, laboratory, and genetic data were reviewed. Results: The median ages at symptom onset and diagnosis were 3.0 years [interquartile range (IQR): 1.0-7.3 years] and 25.0 years (IQR: 10.5-37.3 years), respectively. The median diagnostic delay was 19.6 years (IQR: 6.4-31.0 years). A significantly longer delay was observed in SMA type III patients (median: 21.0 years, IQR: 11.0-31.0 years) compared to SMA type II patients (median: 3.0 years, IQR: 0.9-21.0 years) (p=0.021). No significant difference was observed in the number of clinic visits before diagnosis between patients with SMA type II (median: 2.0, IQR: 1.0-4.5) and those with type III (median: 2.0, IQR: 2.0-6.0, p=0.282). The number of clinic visits before diagnosis showed no significant association with the age at symptom onset and diagnosis (p=0.998 and 0.291, respectively). Conclusion: Our investigation is the first examination of the diagnostic journey of Korean patients with SMA. As treatments for SMA progress, the significance of an accurate diagnosis has increased, highlighting the importance of reviewing the diagnostic advancements made thus far. [ABSTRACT FROM AUTHOR]

Background: Early diagnosis of CH is a cornerstone and it is important to detect causes leading to diagnostic delay. Limited published data exist regarding CH in Egypt, and with no data showing characteristics of CH or causes of diagnostic delay. Aim: To investigate clinical characteristics, for CH and detect causes of diagnostic delay in Egypt. Methodology: A cross-sectional study was conducted including all patients (age: 18–60 years) with primary headache disorders in Egypt with CH patients consecutively recruited over 1 year. Demographic and clinical characteristics as well as rate of diagnostic delay were collected. Results: This registry included 1187 patients with primary headaches over a year. CH accounted for 1.9%. The majority of CH patients were males (82%), and a mean age of 37.9 ± 10 years. The mean age of disease onset was 25 ± 8 years. Sixty-five percent had episodic CH, while 34.8% had chronic CH. Most of the patients (95.7%) had strictly unilateral pain (right side 52.2%, left side 43.5%). Autonomic features were rhinorrhea (91%), ptosis (87%), and lacrimation (78%). Migrainous features were found in 26% of patients. Bout duration of CH lasted on an average of 1–4 months. Time interval of diagnostic delay ranged from 0.5 to 29 years, with a mean diagnostic delay of 9.8 ± 7.9 years. Conclusion: This study showed that CHs present 1.9% of primary headache disorders in Egypt, with males more affected than females. the incidence of smoking was higher among CH patients. Marked diagnostic delay was found which necessitate an action toward raising awareness. [ABSTRACT FROM AUTHOR]

Background and Aims: Superficial fungal infections are common dermatological reasons to visit a doctor in primary care in Finland. However, their variable clinical picture and minor symptoms may lead to delayed diagnosis. We aimed to investigate the epidemiology and patient profile of fungal infections treated in secondary care over a decade. Methods: This is a retrospective study including adult patients with a fungal infection in the scalp, nails, or superficial skin diagnosed at the Oulu University Hospital, Finland between the years 2010 and 2021. Results: There were 573 patients with male predominance (57.6%). All studied fungal infections were more common in the oldest age group (>61 years). The number of fungal infections increased from the year 2017 onward. Only one‐third (37.7%) of the patients were referred to the dermatology clinic because of a suspected dermatophyte infection, and in 46.0% of cases, the diagnostic delay exceeded 6 months. The most common fungal infection was tinea pedis (n = 295, 51.5%) followed by tinea unguium (n = 275, 48.0%); as concomitant infection, they were present in 108 (18.8%) of all patients. The most common pathogen causing a fungal infection was Trichophyton rubrum. Conclusion: During the study period, the incidence of diagnosed superficial fungal skin infections increased. There was a remarkable diagnostic delay from the onset of symptoms to diagnosis in these most common dermatological conditions. Key points: Superficial fungal infections are highly prevalent and they cause burden and decrease the quality of life.We found that the incidence of superficial fungal infections treated in secondary care was increasing.Fungal infections affect both genders, but more often males and especially those who are older.There was a remarkable diagnostic delay in these diseases. [ABSTRACT FROM AUTHOR]

Early diagnosis of oncologic pathologies has a crucial role to determine patient's prognosis and therapeutic path. Nonetheless, clinical errors and omissions that can occur during diagnostic, as well as detection of preneoplastic or neoplastic condition, may result in devasting consequences both for patients in terms of health and for professionals in terms of medico‐legal responsibility. This study is aimed at examining in depth, through the presentation of a specific clinical case, the medico‐legal aspects inherent to the diagnosis of oral cancer, analyzing the preventive, interceptive, and diagnostic strategies, the legal implications of clinical evaluation errors and diagnostic omission, and the type of medical damage produced and professional liability. The medico‐legal landscape surrounding oral squamous cell carcinoma is multifaceted and characterized by diagnostic challenges, treatment complexities, and legal considerations. Health‐care providers must remain vigilant in navigating these complexities to ensure optimal patient care while mitigating legal risks. By prioritizing high‐quality medical records, fostering transparent communication with patients, and implementing preventive strategies, health‐care institutions can strive to minimize the incidence of litigation and uphold standards of ethical practice in oral carcinoma cases. Additionally, continued research and education in forensic and legal medicine are essential in informing evidence‐based practices and promoting patient safety in this evolving field. [ABSTRACT FROM AUTHOR]

Objective Hereditary angioedema (HAE) is characterized by attacks of subcutaneous and mucosal edema. HAE usually affects the skin or mucosal tissues of the upper respiratory and gastrointestinal tract. Irritable bowel syndrome (IBS) is one of the diseases in which the abdominal symptoms of HAE may be confused. In this study, we aimed to clarify the role of IBS in clinical presentation and diagnostic delay in HAE. Material and Method 50 patients with HAE followed in our clinic between January 2013 and April 2023 were included in this study, and hospital records were retrospectively reviewed. Patients with HAE were divided into two groups, those with and without IBS, and evaluated according to Rome IV criteria for diagnosing IBS. Results The mean age of the study group was 40 ± 13 years, and 60% (n=30) were female. IBS was observed in 30% (n=15) of the patients, and 60% (n=9) had IBS before diagnosing HAE. The frequency of attacks and history of gastrointestinal tract medical/surgical history were more frequent in HAE patients with IBS (p<0.001, p=0.032, respectively). Abdominal symptoms before the diagnosis of HAE and persistent abdominal symptoms other than attacks after the diagnosis of HAE were more common in HAE patients with IBS (p<0.001, p<0.001, respectively). HAE patients with IBS had a more significant delay in diagnosing HAE (p=0.011). Conclusion Clinicians should keep HAE in mind in patients with suspected IBS or patients presenting with recurrent unexplained abdominal pain. [ABSTRACT FROM AUTHOR]

Objectives Timely diagnosis remains a challenge in axial SpA (axSpA). In addition, data are scarce on the impact of diagnostic delay and disease progression in affected individuals. The British Axial Spondyloarthritis Inception Cohort (BAxSIC) study aims to investigate the impact of newly diagnosed axSpA, the natural history of the disease and the effect of diagnostic delay on disease outcomes. Methods BAxSIC is a prospective, multicentre, observational study. Eligible participants are adults (≥16 years of age), with a physician-confirmed diagnosis of axSpA in the 6 months prior to study entry, recruited from secondary and tertiary rheumatology centres in the UK. Participants will be followed up for 3 years, with in-person visits at baseline and 24 months. In addition, patient self-reported assessments will be recorded remotely via the online electronic case report form (eCRF) at 6, 12, 18, 30 and 36 months. Results The first patient was enrolled in BAxSIC in June 2023. Recruitment is currently ongoing and is planned to end in June 2026. Initial results will be available in 2027. Since opening, the trial has undergone two protocol amendments. Conclusion The BAxSIC study is the first inception cohort designed to investigate the impact of diagnostic delay on clinical presentation and long-term functional outcomes in patients with axSpA in the UK. With an innovative, patient-led virtual longitudinal data collection model, data generated from this study will help inform and improve the care of people newly diagnosed with axSpA. Trial registration ClinicalTrials.gov (http://clinicaltrials.gov), NCT05676775. [ABSTRACT FROM AUTHOR]

Background. Existing registries of patients with spinal muscular atrophy (SMA) 5q serve as a valuable source of information on identified patients. Information on the characteristics of Russian patients with SMA 5q and the therapy administered in real clinical practice is currently limited.Aim. To describe a cohort of Russian patients with a confirmed diagnosis of SMA 5q and to evaluate patient routing data in real clinical practice settings in Russia.Materials and methods. The present study was a descriptive non-interventional retrospective cohort study in patients diagnosed with SMA 5q who were enrolled in the Russian patient registry between January 1, 2020 and March 31, 2023. Study participants who met the inclusion criteria were automatically identified in the integrated database of the SMA 5q patient registry. Data were uploaded into validated electronic charts, verified and analyzed using descriptive statistics methods. Results. As of March 31, 2023, the Russian SMA registry contained information on 1408 patients from all federal districts and obtained epidemiological, sociodemographic and clinical characteristics of patients, as well as routes to diagnosis and treatment regimens for patients. The median time from disease onset to confirmed diagnosis was 3 months in patients with SMA type 1, 9 months in patients with SMA type 2, 20 months in patients with SMA type 3 and 68 months in patients with SMA type 4. The median time from confirmed diagnosis to the start of disease-modifying therapy was 0.5 months in SMA patients identified by neonatal screening, 21 months in patients with SMA type 1, 59 months in patients with SMA type 2, 47 months in patients with SMA type 3 and 87 months in patients with SMA type 4.Conclusion. This retrospective analysis was carried out in order to identify recent approaches to the diagnosis and treatment of SMA used in real-world clinical practice in Russia. The identified parameters (duration from the disease onset to confirmed diagnosis, duration from the confirmed diagnosis to disease-modifying therapy initiation) indicate that more widespread use of newborn screening and more rapid treatment initiation are unmet needs for SMA patients in Russia.

Background: Celiac disease (CD) is underdiagnosed and associated with diagnostic delays. This has long‐term consequences for the health and well‐being of people living with the condition. Little is known about the qualitative configurations of the assessment processes of people living with CD. Methods: Using a thematic network analysis of 24 in‐depth interviews, this study explored the experiences of people living with CD related to their assessment processes leading to being diagnosed. Results: A significant diagnostic delay (up to 26 years) was evident in many interviews. Factors contributing to diagnostic delay included limited knowledge about CD among general practitioners (GP) and in the general population, categorisations of symptoms as 'typical' or 'atypical' and psychosomatic explanations of symptoms. Diagnostic delay resulted in (1) decreased psychological well‐being due to severe symptoms, changes in self‐perception and self‐blame; (2) decreased physiological well‐being due to comorbidities; and (3) mistrust in the healthcare system, leading to an increase in informants' responsibility for expediting their assessment processes. This suggested the presence of a neoliberal tendency because informants felt they were primarily responsible for their assessment processes. Conclusions: We encourage the implementation of initiatives to increase awareness of CD among GPs as well as more consistent and frequent use of the screening guideline due to variations in its clinical presentation. Increased awareness and consistency could reduce variations in assessment processes given GPs' varying knowledge about the condition. Key points: Factors contributing to diagnostic delay included varying and inadequate knowledge about celiac disease (CD) among general practitioners (GP) and informants. This highlights the importance of ensuring more consistent and frequent use of existing clinical guidelines in GPs' screening for CD and implementing initiatives to increase public awareness of CD and its diverse symptoms.For informants, diagnostic delays resulted in mistrust in the healthcare system, decreased physiological well‐being and decreased psychological well‐being due to changes in self‐perception and self‐blame. This signals the importance of increasing GPs' awareness of approaching patients with understanding in a nonstigmatising manner. [ABSTRACT FROM AUTHOR]

Ulcerative Colitis (UC) is a chronic Inflammatory Bowel Disease (IBD) that affects the inner lining of the colon, imposing a significant burden on healthcare systems worldwide. Symptoms include bloody stools and abdominal pain. The prevalence of UC is increasing, particularly among young adults. The pathogenesis involves immune responses, genetics and environmental factors. Diagnostic delays are common, leading to complications and increased costs. Early diagnosis is crucial for preventing complications. Endoscopy is the primary diagnostic tool. Treatment aims to reduce inflammation and achieve remission. Delayed diagnosis can lead to long-term complications such as Colorectal Cancer (CRC) and bowel stenosis. Prompt recognition and management are essential for minimising the disease burden and optimising care. The present study delves into the complex nature of UC, a chronic IBD, revealing its epidemiology, pathogenesis, diagnostic challenges, treatment strategies, prognosis, complications and the impact of delayed diagnosis on patients’ quality of life. The study highlights the evolving understanding of UC pathogenesis, incorporating immune responses, genetics, environmental factors and biomarkers. It also discusses diagnostic delays due to symptom similarities and the need for increased awareness among healthcare providers and the public. The study also discusses advanced diagnostic methods and therapeutic approaches, including novel drug targets and surgical interventions. It also highlights the negative consequences of delayed diagnosis, including increased morbidity, psychological distress and socioeconomic burden. The study emphasises the need for collaborative efforts to ensure timely and appropriate care for UC patients.

Abstract We conducted a retrospective study to investigate risk factors for tuberculosis care-seeking delay and diagnostic delays among pediatric pulmonary tuberculosis cases in Zhejiang Province from 2013 to 2022. Among 1274 cases, 49.61% experienced tuberculosis care-seeking delays (> 14 days from symptom onset to first hospital visit) and 14.91% faced diagnostic delays (> 14 days from initial consultation to diagnosis). The proportion of care-seeking delays ranged from 37.42 to 64.89%, while diagnostic delay fluctuated from 6.11 to 21.02%. Urban residence (OR = 0.78, 95% CI 0.62–0.98, P = 0.030), first visiting a municipal-level hospital (OR = 0.57, 95% CI 0.45–0.72, P

Abstract Background Early diagnosis and treatment of rheumatoid arthritis (RA) are essential to prevent progressive joint destruction and improve the quality of life (QOL) of patients. This study aimed to identify the factors associated with the duration from symptom onset to seeking initial medical care among older rural patients diagnosed with RA. Methods This retrospective cohort study was conducted in Unnan City, Japan, using electronic patient records. Data from patients aged > 65 years, who were admitted to the Unnan City Hospital between April 2016 and March 2021, were analyzed. The primary outcome was the duration from symptom onset to the initial visit to the medical institution. Demographic factors, laboratory data, and data on symptoms were collected and analyzed using statistical tests and regression models. Results In total, 221 participants were included in this study. The longer duration from symptom onset to medical care usage was significantly associated with age (adjusted odds ratio [OR]: 1.09, 95% confidence interval [CI]: 1.03–1.15), isolated conditions (adjusted OR: 4.45, 95% CI: 1.85–10.70), and wrist symptoms (adjusted OR: 3.22, 95% CI: 1.44–7.17). Higher education level and alcohol consumption were also associated with the duration from symptom onset to medical care usage. Conclusions Older age, isolated conditions, and specific joint symptoms were significant factors influencing delays in seeking medical care among older rural patients with RA. Interventions to improve health literacy, increase social support, and raise awareness of RA symptoms are essential for expediting diagnosis and improving patient QOL. Further research is needed to explore additional psychosocial factors and beliefs that affect health-seeking behaviors in patients with RA.

Ulcerative Colitis (UC) is a chronic Inflammatory Bowel Disease (IBD) that affects the inner lining of the colon, imposing a significant burden on healthcare systems worldwide. Symptoms include bloody stools and abdominal pain. The prevalence of UC is increasing, particularly among young adults. The pathogenesis involves immune responses, genetics and environmental factors. Diagnostic delays are common, leading to complications and increased costs. Early diagnosis is crucial for preventing complications. Endoscopy is the primary diagnostic tool. Treatment aims to reduce inflammation and achieve remission. Delayed diagnosis can lead to longterm complications such as Colorectal Cancer (CRC) and bowel stenosis. Prompt recognition and management are essential for minimising the disease burden and optimising care. The present study delves into the complex nature of UC, a chronic IBD, revealing its epidemiology, pathogenesis, diagnostic challenges, treatment strategies, prognosis, complications and the impact of delayed diagnosis on patients' quality of life. The study highlights the evolving understanding of UC pathogenesis, incorporating immune responses, genetics, environmental factors and biomarkers. It also discusses diagnostic delays due to symptom similarities and the need for increased awareness among healthcare providers and the public. The study also discusses advanced diagnostic methods and therapeutic approaches, including novel drug targets and surgical interventions. It also highlights the negative consequences of delayed diagnosis, including increased morbidity, psychological distress and socioeconomic burden. The study emphasises the need for collaborative efforts to ensure timely and appropriate care for UC patients. [ABSTRACT FROM AUTHOR]

The global healthcare sector faced immense challenges due to the COVID‐19 pandemic. Oncologists noted reduced cancer screening, which impacted melanoma diagnosis and treatment, leading to concerns about delayed care and poorer outcomes. This review analyzes how the pandemic influenced melanoma ulceration risk and Breslow thickness index through a meta‐analysis of published studies. Following PRISMA guidelines, we conducted a systematic review of literature from January 2021 to December 2022 on cutaneous melanoma before and during the COVID‐19 pandemic. Upon screening 1854 manuscripts, the review led to 13 studies meeting inclusion standards. The quality assessment followed MINORS and Newcastle‐Ottawa Scale criteria. Regarding ulceration, post‐COVID ulceration surpassed pre‐COVID levels significantly, with a risk ratio of 1.31 and an estimated odds ratio of 1.41, indicating a 44% rise post‐COVID. As for Breslow thickness, studies show a rising trend in the Breslow index post‐COVID, but less significantly, with an effect size of 0.08 regarding the meta‐analysis model (P = 0.02) with a pre‐COVID mean Breslow of 1.56 mm and post‐COVID of 1.84 mm. This meta‐analysis concluded that post‐COVID ulceration rates significantly surpassed pre‐COVID levels. Considering that ulcerated melanomas usually undergo sentinel lymph node biopsy and are more likely to benefit from adjuvant therapies, this indicates important implications, as many patients might have missed the opportunity to start therapy appropriately, regardless of their Breslow thickness status. [ABSTRACT FROM AUTHOR]

Introduction: People with low income have worse outcomes throughout the cancer care continuum; however, little is known about income and the diagnostic interval. We described diagnostic pathways by neighborhood income and investigated the association between income and the diagnostic interval. Methods: This was a retrospective cohort study of colon cancer patients diagnosed 2007–2019 in Ontario using routinely collected data. The diagnostic interval was defined as the number of days from the first colon cancer encounter to diagnosis. Asymptomatic pathways were defined as first encounter with a colonoscopy or guaiac fecal occult blood test not occurring in the emergency department and were examined separately from symptomatic pathways. Quantile regression was used to determine the association between neighborhood income quintile and the conditional 50th and 90th percentile diagnostic interval controlling for age, sex, rural residence, and year of diagnosis. Results: A total of 64,303 colon cancer patients were included. Patients residing in the lowest income neighborhoods were more likely to be diagnosed through symptomatic pathways and in the emergency department. Living in low‐income neighborhoods was associated with longer 50th and 90th‐percentile symptomatic diagnostic intervals compared to patients living in the highest income neighborhoods. For example, the 90th percentile diagnostic interval was 15 days (95% CI 6–23) longer in patients living in the lowest income neighborhoods compared to the highest. Conclusion: These findings reveal income inequities during the diagnostic phase of colon cancer. Future work should determine pathways to reducing inequalities along the diagnostic interval and evaluate screening and diagnostic assessment programs from an equity perspective. [ABSTRACT FROM AUTHOR]

In the past three decades, significant improvements have occurred in the study of Duchenne muscular dystrophy (DMD). DMD is a rare, severe neuromuscular disease that causes death due to cardiovascular and respiratory complications among affected boys. Since the 1980s, ongoing preclinical and clinical studies have been conducted to explore the disease in depth and discover potential therapeutic strategies. In Saudi Arabia, it is unclear whether health services and research efforts are keeping pace with global achievements. Therefore, this review aims to explore the diagnostic and management strategies and research efforts in Saudi Arabia over the past three decades. I searched the PubMed/Medline, Scopus, and Web of Science databases and included all published articles on the epidemiology, genetics, diagnosis, and management of DMD/BMD in this review. The findings suggest a lack of local standardized diagnostic strategies, a poor understanding of epidemiology and common pathogenic variants, and a critical need for preclinical and clinical research. At the time of writing, no such comprehensive review has been published. Challenges, limitations, and future perspectives are also discussed in this article. [ABSTRACT FROM AUTHOR]

We conducted a retrospective study to investigate risk factors for tuberculosis care-seeking delay and diagnostic delays among pediatric pulmonary tuberculosis cases in Zhejiang Province from 2013 to 2022. Among 1274 cases, 49.61% experienced tuberculosis care-seeking delays (> 14 days from symptom onset to first hospital visit) and 14.91% faced diagnostic delays (> 14 days from initial consultation to diagnosis). The proportion of care-seeking delays ranged from 37.42 to 64.89%, while diagnostic delay fluctuated from 6.11 to 21.02%. Urban residence (OR = 0.78, 95% CI 0.62–0.98, P = 0.030), first visiting a municipal-level hospital (OR = 0.57, 95% CI 0.45–0.72, P < 0.001), and diagnostic method (OR = 0.66, 95%CI 0.52–0.84, P < 0.001) were associated with tuberculosis care-seeking delay, whereas first visiting a municipal-level hospital (OR = 2.05, 95% CI 1.49–2.80, P < 0.001) was linked to diagnostic delay. Further analysis using a 28-day cutoff point revealed that children aged 0–4 years, those from migrant populations, laboratory-confirmed patients, and those who first visited a county-level hospital were more likely to experience delays in seeking tuberculosis care. Thus, society should pay more attention to the health of rural, migrant, and 0–4-year-old children, as they are at higher risk of experiencing tuberculosis care-seeking delays. [ABSTRACT FROM AUTHOR]

Background Spinal involvement is a common but serious complication of human brucellosis. However, information on the risk factors associated with spinal involvement in individuals with brucellosis is limited. Methods This retrospective case-control study aimed to determine the potential risk factors associated with spinal complications in inpatients with brucellosis. Results During the study period, brucellosis was diagnosed in 377 patients, of whom 108 (28.64%) showed spinal involvement. Those with spinal involvement were significantly older than patients in the control group (mean age [standard deviation], 53.25 [10.48] vs 43.12 [13.84] years, respectively; P <.001). The diagnostic delays were significantly longer in patients with spinal involvement than in the control group (mean delay [standard deviation], 11.17 [13.55] vs 6.03 [8.02] weeks; P =.001). Age >40 years (odds ratio, 5.42 [95% confidence interval, 2.65–11.05]; P <.001) and diagnostic delay >4 weeks (2.94 [1.62–5.35]; P <.001) were independently associated with spinal involvement in brucellosis. The lumbar spine at the L3–5 level was the most affected (152 of 249 [61.04%]). Back pain (92 of 108 in case patients vs 21 of 108 in controls; P <.001) and splenomegaly (23 vs 42 of 108, respectively; P =.005) differed significantly between the 2 groups. Conclusions Age >40 years and diagnostic delay >4 weeks increased the risk of spinal involvement in brucellosis. Therefore, the time from symptom onset to diagnosis should be shortened, using effective measures to reduce spinal involvement risk. [ABSTRACT FROM AUTHOR]

Motor neuron disease (MND) is an uncommon but invariably fatal condition, with a median survival of 24-48 months from symptom onset. Although there is no cure at the moment, early diagnosis is crucial to enable timely access to multidisciplinary care, and enrolment in clinical trials utilising investigational therapies. Unfortunately, diagnostic delays remain common, and the average delay between symptom onset and diagnosis is 12 months. Large numbers of specialist referrals have been suggested as a key contributor to diagnostic delays. We conducted a retrospective review of the medical records of patients diagnosed with MND in Lancashire and South Cumbria, to investigate whether large numbers of specialty referrals are a common occurrence in MND. Our review identified that 35% of patients with MND were seen by two or more specialties before being referred to neurology. This rose to 49% when patients with bulbar onset disease were considered. 9% of cases saw three or more specialists. There was a statistically significant correlation between the number of specialist referrals and delays in neurology referral. We hope our findings will increase awareness of the importance of early neurology referral in the diagnosis of MND and promote the use of the MND Red Flag tool as a means of identifying patients in need of prompt neurological evaluation. [ABSTRACT FROM AUTHOR]

Background: Acne inversa (Ai, also known as hidradenitis suppurativa) is a chronic recurrent skin disease of the terminal hair follicles. It occurs after puberty and predominantly in apocrine-gland-rich intertriginous skin areas. It repeatedly causes inflammatory nodules and abscesses located deeply in the skin, which in severe cases can lead to irreversible tunnels and scar formation. Objective: To demonstrate the high relevance of general practitioners in the diagnosis and treatment of Ai patients, who are often young and under great distress. Materials and methods: Review of the evidence on the current care situation and presentation of the authors' experiences from participation in the largest German healthcare research study on Ai (EsmAiL project). Results: The average time to diagnosis for Ai is currently 9 years. Due to disease progression during this time, patients often experience irreversible physical and psychological harm. As the primary point of contact, general practitioners have a significant influence on early diagnosis and the individual course of the chronic disease. The results of the healthcare research project EsmAiL show that by specializing in Ai, a central point of contact can be created that effectively cares for patients accounting for their degree of disease severity. Conclusion: With our holistic expertise as general practitioners, we are not only in a position to provide diagnostics, but can also help as a specialized center to ensure that Ai no longer has to be a stigmatizing disease. [ABSTRACT FROM AUTHOR]

Purpose: The gold standard for diagnostics in primary central nervous system lymphoma (PCNSL) is histopathological diagnosis after stereotactic biopsy. Yet, PCNSL has a multidisciplinary diagnostic work up, which associated with diagnostic delay and could result in treatment delay. This article offers recommendations to neurosurgeons involved in clinical decision-making regarding (novel) diagnostics and care for patients with PCNSL with the aim to improve uniformity and timeliness of the diagnostic process for patients with PCNSL. Methods: We present a mini review to discuss the role of stereotactic biopsy in the context of novel developments in diagnostics for PCNSL, as well as the role for cytoreductive surgery. Results: Cerebrospinal fluid-based diagnostics are supplementary and cannot replace stereotactic biopsy-based diagnostics. Conclusion: Histopathological diagnosis after stereotactic biopsy of the brain remains the gold standard for diagnosis. Additional diagnostics should not be a cause of diagnostic delay. There is currently no sufficient evidence supporting cytoreductive surgery in PCNSL, with recent studies showing contradictive data and suboptimal study designs. [ABSTRACT FROM AUTHOR]

The current study was a secondary analysis of cross-sectional data collected in New Zealand. Parents (n = 291) of an autistic child completed an online survey that included temporal/demographic questions relating to the parent and child, and parent ratings of the child's core ASD symptoms, their parenting stress, and psychological well-being. Child and parent ages were related to ASD core symptoms, parenting stress, and psychological well-being, the parent-child age gap was not. Diagnostic delay was only positively associated with parent depression and negatively associated with child communication impairment. Findings indicated that temporal variables can be predictive of parent well-being and child autism symptoms. The findings suggest that focusing interventions on communication abilities may have positive impacts parental mental health. [ABSTRACT FROM AUTHOR]

Objective: To examine patient‐described experiences of endometriosis diagnosis. Design: Mixed‐methods study. Setting: Online patient‐led endometriosis support groups. Population or Sample: People with endometriosis aged over 18. Methods: A survey with qualitative and quantitative questions was distributed through online patient‐led endometriosis support groups. Descriptive statistics were used to analyse quantitative data, and thematic analysis was used for qualitative responses. Quantitative and qualitative data were triangulated to examine patient experiences of endometriosis diagnosis across age groups. Main outcome measures: Experiences of endometriosis diagnosis among people with endometriosis. Results: A total of 2017 people with endometriosis from 63 countries responded to the questionnaire. Patients experienced an average delay of 3.7 years between symptom onset and first presentation of symptoms to a physician (the care‐seeking delay) and an average delay of 5.8 years between first presentation of symptoms to a physician and diagnosis of endometriosis (the healthcare‐related delay). Patients experienced an average total diagnostic delay of 9.6 years. Participants aged over 35 at the time of the study reported significantly longer times to receive an endometriosis diagnosis (mean 10.7, 95% confidence interval [CI] 10.2–11.2) compared with participants age 18–24 (6.8, 95% CI 6.1–7.5 years). The qualitative analysis identified the following themes: physicians normalised endometriosis symptoms, patients felt their symptoms were ignored by physicians because they were considered unreliable, and participant character attributes (e.g. age, appearance, weight or physical ability) led to clinician dismissal. Conclusions: People with endometriosis of all age groups reported pervasive negative healthcare experiences during their adolescence. Patients experience delays in seeking care and in receiving a diagnosis once presenting for care. [ABSTRACT FROM AUTHOR]

The 10 Warning Signs of Primary Immunodeficiency were created 30 years ago to advance recognition of inborn errors of immunity (IEI). However, no population-level assessment of their utility applied to electronic health record (EHR) data has been conducted. We sought to quantify the value of having ≥2 warning signs (WS) toward diagnosing IEI using a highly representative real-world US cohort. A secondary goal was estimating the US prevalence of IEI. In this cohort study, we accessed normalized and de-identified EHR data on 152 million US patients. An IEI cohort (n = 41,080), in which patients were defined by having at least 1 verifiable IEI diagnosis placed ≥2 times in their record, was compared with a matched set of controls (n = 250,262). WS were encoded along with relevant diagnoses, relative weights were calculated, and the proportion of IEI cases versus controls with ≥2 WS was compared. The proportion of IEI cases with ≥2 WS significantly differed from controls (0.33 vs 0.031; P <.0005, χ2 test). We also estimated a US IEI prevalence of 6 per 10,000 individuals (41,080/73,165,655; 0.056%). WS 9 (≥2 deep-seated infections), 7 (fungal infections), 5 (failure to thrive) and 4 (≥2 pneumonias in 1 year) were the most heavily weighted among the IEI cohort. This nationally representative US-based cohort study demonstrates that presence of WS and associated clinical diagnoses can facilitate identification of patients with IEI from EHR data. In addition, we estimate that 6 in 10,000, or approximately 150,000 to 200,000 individuals are affected by IEI across the United States. [ABSTRACT FROM AUTHOR]

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SUMMARY: Background: The chronic inflammatory skin disease hidradenitis suppurativa (HS) leads to severe pain and reduced quality of life. Nonetheless, it often takes years until a correct diagnosis is made. In this analysis, disease‐related experiences and pathways of patients with HS were investigated and compared with the physicians' perspective. Methods: Public posts on forums and social media as well as results of a survey conducted among dermatologists and their patients on the actual medical care reality of HS in Germany were analysed. Furthermore, claims data from German health insurance companies were evaluated. Results: Patients with HS suffer from a 43.3% reduction in working ability. Dermatology (26.5%) was the most frequently consulted specialty, with HS diagnosed predominantly in the inpatient setting (43.8%). Abscesses were described as the most frequent alternative diagnosis in HS patients (53.2%). Patient‐reported changes of physicians in dermatology (34.1%) and surgery (42.4%) occurred predominantly within the specialty. Dermatology received most referrals from general practitioners (67.1%), but only 12.1% from surgeons. Conclusion: There is an urgent need to reduce the delay in diagnosis and the prolonged burden of disease in patients with HS. Therefore, awareness of the disease, its detection and treatment which goes beyond dermatology should be promoted, if possible as part of medical studies. [ABSTRACT FROM AUTHOR]

Background: Systemic mastocytosis (SM), a rare condition affecting about 32,000 individuals in the United States, is often misdiagnosed or underdiagnosed owing to its nonspecific symptoms and the need for invasive biopsies. Objective: Our aim was to identify, classify, and characterize the natural history of patients with SM. Methods: In a retrospective cohort study, administrative data from a large managed care organization was used to identify patients with confirmed SM, based on World Health Organization criteria. Demographic data, delay to diagnosis, disease progression, and health care resource utilization were examined. Results: Of 116 patients with confirmed SM, 77% had indolent SM, 2% had smoldering SM, 12% had SM with associated hematologic neoplasm, 9% had aggressive SM, and none had mast cell leukemia. In all, 5 patients were misclassified as having a less advanced SM subtype initially and 3 were completely undiagnosed (missed diagnosis). The average delay to diagnosis of SM was 58.3 plus or minus 73.1 months. In all, 18% of patients progressed from a nonadvanced form of SM (indolent or smoldering SM) to an advanced form of SM (aggressive SM, SM with associated hematologic neoplasm, or mast cell leukemia) over an average of 88.3 plus or minus 82.7 months. Patients with SM had increased health care utilization, including increases in their numbers of hospital admissions, emergency room visits, urgent care visits, and specialty provider visits, after diagnosis versus before. Conclusions: Rare diseases such as SM would benefit from increased understanding and awareness to improve diagnostic accuracy. Prospective studies are needed to better characterize this patient population and determine the type of follow-up needed to recognize advanced forms of SM so that appropriate treatment can be implemented.

Background: Due to a heterogeneity of symptoms, a lack of an adequate diagnostic test, and a lack of awareness, diagnostic delay in endometriosis in primary care on average amounts to 35 months. Aim: To determine which interventions are most feasible to reduce time to diagnosis in primary care, focusing on GPs’ preferences, the intervention’s content, design, and implementation. Design & setting: We conducted a qualitative study by performing focus groups with GPs and GP trainees between July and October 2021. Method: Data collection was continued until saturation was obtained. Focus groups were transcribed and openly encoded. Themes were formulated by three independent researchers. Results: Divided over five focus groups 22 GPs and 13 GP trainees participated. Three themes were formulated: increasing awareness, combined intervention, and reaching unaware GPs. Suggestions for a combined intervention strategy were adaptation of guidelines, a diagnostic support tool, and compulsory education. To reach unaware GPs, participants felt that education should be offered in regional networks and education for GP trainees should be mandatory. A guideline on menstrual symptoms should be considered and the term endometriosis should be added to the differential diagnosis paragraphs of existing guidelines. A diagnostic support tool should be linked to a guideline and consist of a flowchart with steps starting with the first presentation of symptoms leading to the diagnosis of endometriosis. Conclusion: According to GPs, a combined intervention strategy consisting of an adapted guideline, a diagnostic support tool, and education might be successful interventions in reducing diagnostic delay in endometriosis.

ABSTRACT Background and Aim Delay in diagnosis and treatment of lung cancer is thought to be a major cause of its poor outcomes. We evaluated the delays within the presentation to the initiation of diagnostic and therapeutic interventions amongst lung cancer patients in Southern Iran. Methods This cross‐sectional study was conducted from March 2019 to March 2021. The data collected through interview included socio‐demographic, medical and clinical findings, and the time intervals needed to visit physician, refer to specialist, request diagnostic procedures, reach diagnosis of lung cancer, and hospitalization. Results Eighty‐nine patients (58 males and 31 females) with a mean age of 61.01 ± 12.25 years were included. The median time of symptom presentation and first physician visit interval was 25 days. Sixty‐five days were spent for requesting, performing, and evaluating the diagnostic procedures. The median interval between diagnosis and initiation of treatment was 16 days. Totally, it took an average of 122 days from the presentation to the definite diagnosis of lung cancer. Patient‐, diagnosis‐, and treatment‐related delays were not significantly correlated with any of the demographic, socioeconomic, and clinical (disease stage, symptom) variables, as well as the diagnosis tool and the first physician who visited the patient (p > 0.05). Conclusions There was a significant delay but relatively similar to other countries in the diagnosis and treatment of lung cancer patients in Southern Iran. The largest portion of delay could be attributed to the raising clinical suspicion in the physicians, referral for diagnostic assessments, and the diagnosis process.

Abstract Background and Aims Superficial fungal infections are common dermatological reasons to visit a doctor in primary care in Finland. However, their variable clinical picture and minor symptoms may lead to delayed diagnosis. We aimed to investigate the epidemiology and patient profile of fungal infections treated in secondary care over a decade. Methods This is a retrospective study including adult patients with a fungal infection in the scalp, nails, or superficial skin diagnosed at the Oulu University Hospital, Finland between the years 2010 and 2021. Results There were 573 patients with male predominance (57.6%). All studied fungal infections were more common in the oldest age group (>61 years). The number of fungal infections increased from the year 2017 onward. Only one‐third (37.7%) of the patients were referred to the dermatology clinic because of a suspected dermatophyte infection, and in 46.0% of cases, the diagnostic delay exceeded 6 months. The most common fungal infection was tinea pedis (n = 295, 51.5%) followed by tinea unguium (n = 275, 48.0%); as concomitant infection, they were present in 108 (18.8%) of all patients. The most common pathogen causing a fungal infection was Trichophyton rubrum. Conclusion During the study period, the incidence of diagnosed superficial fungal skin infections increased. There was a remarkable diagnostic delay from the onset of symptoms to diagnosis in these most common dermatological conditions.

ObjectivesTo explore the demographic and clinical profile of erosive lichen planus (ELP) across multiple ethnicities within a single cohort, deepening our understanding of disease severity, progression and outcomes.MethodsA longitudinal retrospective cohort study of ELP patients in the ethnically diverse population of East London was carried out, profiling ELP (n = 57) against the milder reticular lichen planus (RLP) (n = 35).ResultsA higher prevalence of ELP was observed in white populations compared to other ethnicities. Affected females were no more likely than males to develop ELP. There was an increased time to diagnosis for ELP patients (median ELP: 452 days, RLP: 312 days), spending longer in primary care before onward referral, in particular when referred by their general medical practitioner (GP) (median dentist 313 days, GP: 606 days). Depression was more likely to occur alongside ELP. Being an ex-smoker is a risk factor for ELP while being a current smoker is associated with RLP. A higher proportion of patients with ELP were missing teeth and had periodontal disease. Multisite involvement was more common in ELP, (ELP: 68% RLP: 11.43%). 55% of ELP cases developed scarring and were less likely to respond to first line medications, requiring systemic immunosuppression. The duration of follow up was increased in the ELP who were reviewed for almost twice as long as RLP patients (ELP 71 months, RLP 35 months).ConclusionELP takes longer to diagnose, requires prolonged tertiary care and is more resistant to treatment, when compared across multiple ethnicities. These patients have increased medical and oral health needs and are at greater risk of scarring than the reticular form. A greater education amongst primary carers on its presentation, as well as a greater understanding of the cellular and molecular mechanisms driving ELP are required to improve diagnostics and identify novel therapeutic approaches.

BackgroundEosinophilic esophagitis (EoE) is a chronic and progressive type 2 inflammatory disease affecting the esophagus. Its prevalence has increased in recent years due to increased awareness, evolving clinical guidelines, and heightened sensitivity among healthcare professionals managing the condition. The exact causes behind EoE’s development remain unknown, and its clinical presentation varies, often leading to significant diagnostic delays depending on the age at which symptoms manifest. Consequently, achieving long-term disease control through heightened awareness becomes imperative. EoE generates a significant clinical burden, resulting in substantial economic consequences for patients, healthcare systems, and society. This study aimed to assess the economic and social impacts on EoE patients within the Italian context.MethodsA cost-of-illness analysis was conducted from two perspectives: the National Health System (NHS) and the societal perspective. This analysis encompassed direct healthcare, indirect healthcare, and non-healthcare costs. Data were collected and assessed through a survey administered to a panel of expert clinicians and EoE-affected patients.ResultsManaging EoE incurs a significant burden on healthcare systems, amounting to €6,852.28 per patient per year. The primary cost component appears to be direct costs, comprising 60.73% of the total cost per patient for this condition, while indirect costs contribute to 29.68% of the overall management expenses.ConclusionThis analysis underscores a substantial financial burden on both the healthcare system and patients affected by eosinophilic esophagitis. It emphasizes the imperative need for a continuous and combined effort from clinicians, patients, and families to promptly recognize symptoms and adaptive behavior to mitigate diagnostic delays.

ObjectiveTo understand and analyze the factors relating to patient and diagnostic delays among groups with tuberculous pleurisy (TP), and its spatiotemporal distribution in Zhejiang Province.MethodsData of all tuberculous pleurisy patients were collected from the existing Tuberculosis Information Management System. A time interval of > 2 weeks between first symptom onset and visit to the designated hospital was considered a patient delay, and a time interval of > 2 weeks between the first visit and a confirmed TP diagnosis was considered a diagnostic delay. Univariate and multivariate logistic regression analyses were used to explore factors influencing patient and diagnostic delays in patients with TP. Spatial autocorrelation and spatiotemporal scan analyses were used to identify hot spots and risk clusters, respectively.ResultsIn total, 10,044 patients with TP were included. The median time and interquartile range for patients seeking medical care and diagnosis were 15 (7–30) and 1 (0–8) days, respectively. The results showed that people aged > 65 years, retirees, and residents of Jinhua, Lishui, and Quzhou were positively correlated with patient delay, whereas retreatment patients, houseworkers, unemployed people, and residents of Zhoushan or Ningbo were positively correlated with diagnostic delay. Additionally, high-risk clusters of patient delays were observed in the midwestern Zhejiang Province. The most likely clusters of TP diagnostic delays were found in southeast Zhejiang Province.ConclusionIn summary, patient delay of TP in Zhejiang province was shorter than for pulmonary tuberculosis in China, while the diagnostic delay had no difference. Age, city, occupation, and treatment history were related to both patient and diagnostic delays in TP. Interventions in central and western regions of Zhejiang Province should be initiated to improve the early detection of TP. Additionally, the allocation of health resources and accessibility of health services should be improved in the central and eastern regions of Zhejiang Province.

Abstract Background The first COVID-19 wave in 2020 necessitated temporary suspension of non-essential medical services including organized cancer screening programs in Belgium. This study assessed the impact of the pandemic on breast cancer (BC) incidence, stage at diagnosis, and management in Belgium in 2020. Methods All Belgian residents diagnosed with in situ or invasive BC in 2015–2020 in the nationwide, population-based cancer registry database were included. Incidence trends for 2015–2019 were extrapolated to predict incidence and stage distribution for 2020 and compared with the observed values. National healthcare reimbursement data were used to examine treatment strategies. Exact tumor diameter and nodal involvement, extracted from pathology reports, were analyzed for 2019 and 2020. Results 74,975 tumors were selected for analysis of incidence and clinical stage. Invasive BC incidence declined by -5.0% in 2020, with a drop during the first COVID-19 wave (Mar-Jun; -23%) followed by a rebound (Jul-Dec; +7%). Predicted and observed incidence (in situ + invasive) was not different in patients

Abstract Background The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of rare diseases in clinical settings is challenging, with patients typically experiencing a multitude of unnecessary tests and procedures. To improve diagnosis of rare disease, clinicians require evidence-based guidance on when their patient may be presenting with a rare disease. This study aims to identify common experiences amongst patients with rare diseases, to inform a series of ‘red flags’ that can aid diagnosis of rare diseases in non-specialist settings. A questionnaire was developed by Medics for Rare Diseases, informed by the experiences of clinicians, rare disease patients and patient advocates, and was shared with UK-based rare disease patient groups. Study participants were engaged via social media platforms, blogs and email newsletters of three umbrella rare disease organisations. The questionnaire, comprising 22 questions, was designed to identify typical experiences relating to physical and psychosocial manifestations and presentation of disease, patient interactions with healthcare providers, and family history. Results Questionnaire responses were received from 79 different rare disease patient groups and the common experiences identified were used to inform seven red flags of rare disease: multi-system involvement (3 or more); genetic inheritance pattern; continued presentation throughout childhood and adulthood; difficulties at school, especially relating to absences, difficulty participating in physical education and experiences of bullying or social isolation; multiple specialist referrals; extended period with unexplained symptoms; and misdiagnosis. In light of the red flags identified, recommendations for primary care and education settings have been proposed, focusing on the need for holistic assessment and awareness of both physical and psychosocial factors. Conclusions This study identified key commonalities experienced by patients with rare disease across physical and psychosocial domains, in addition to understanding patients’ history and experiences with healthcare providers. These findings could be used to develop a clinical decision‑making tool to support non-specialist practitioners to consider when their patient may have an undiagnosed rare condition, which may minimise the challenges of the ‘diagnostic odyssey’ and improve the patient experience.

Abstract Background Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literature to determine the overall diagnostic delay of sarcoidosis, factors associated with diagnostic delay, and the experiences of people with sarcoidosis of diagnostic delay. Methods Three databases (PubMed/Medline, Scopus, and ProQuest) and grey literature sources were searched. Random effects inverse variance meta-analysis was used to pool mean diagnostic delay in all types of sarcoidosis subgroup analysis. Diagnostic delay was defined as the time from reported onset of symptoms to diagnosis of sarcoidosis. Results We identified 374 titles, of which 29 studies were included in the review, with an overall sample of 1531 (694 females, 837 males). The overall mean diagnostic delay in all types of sarcoidosis was 7.93 months (95% CI 1.21 to 14.64 months). Meta-aggregation of factors related to diagnostic delay in the included studies identified three categories: (1) the complex and rare features of sarcoidosis, (2) healthcare factors and (3) patient-centred factors. Meta-aggregation of outcomes reported in case studies revealed that the three most frequent outcomes associated with diagnostic delay were: (1) incorrect diagnosis, (2) incorrect treatment and (3) development of complications/disease progression. There was no significant difference in diagnostic delay between countries with gatekeeper health systems (where consumers are referred from a primary care clinician to specialist care) and countries with non-gatekeeper systems. No qualitative studies examining people’s experiences of diagnostic delay were identified. Conclusion The mean diagnostic delay for sarcoidosis is almost 8 months, which has objective consequences for patient management. On the other hand, there is a paucity of evidence about the experience of diagnostic delay in sarcoidosis and factors related to this. Gaining an understanding of people’s experiences while seeking a diagnosis of sarcoidosis is vital to gain insight into factors that may contribute to delays, and subsequently inform strategies, tools and training activities aimed at increasing clinician and public awareness about this rare condition. Trial registration PROSPERO Registration number: CRD42022307236.

Abstract Background Despite the rising incidence of pediatric inflammatory bowel disease (PIBD) globally, multicenter collaborative studies of PIBD children among developing countries remain sparse. We therefore aimed to define the initial presentation and short-term outcomes of Thai children with PIBD from a multicenter registry. Methods Four teaching hospitals participated in this study. A diagnosis of PIBD requires gastrointestinal endoscopy and histopathology in children aged

ABSTRACTLeprosy is an infectious neglected tropical disease, which can cause irreversible disabilities if not diagnosed in time. Colombia continues to show high rates of leprosy-related disability, mainly due to a delay in diagnosis. Limited knowledge is available that explains this delay, therefore our study aimed to explore the perceptions and experiences of leprosy health professionals with the delay in leprosy diagnosis in the Cesar and Valle del Cauca departments, Colombia. Nine semi-structured expert interviews with leprosy health professionals were conducted in May-June 2023 in Colombia. Thematic analysis was performed to analyse the interview results. Our analysis highlighted that the main reasons for delay at the health system-level included accessibility issues to obtain a diagnosis, lack of expertise by health staff, and barriers related to the organisation of the care pathway. Individual – and community-level factors included a lack of leprosy awareness among the general population and leprosy-related stigma. Diagnostic delay consists of a fluid interplay of various factors. Structural changes within the health system, such as organising integral leprosy care centres and highlighting leprosy in the medical curriculum, as well as awareness-related interventions among the general population, might help reducing diagnostic delays.

Endometriosis is a common condition with varying delays from symptom onset to diagnosis reported internationally. In New Zealand, the previously accepted average delay to diagnosis was 8.6–8.7 years. An online survey completed by the largest cohort of self‐reported New Zealand‐confirmed endometriosis patients (n = 1024) for the collection of delay to diagnosis was conducted in September and October of 2023. The results revealed an average delay of 9.7 ± 7.1 years overall, with a significantly longer delay in the North Island than in the South. This study identifies potential factors for future research that may influence diagnostic delays in New Zealand. [ABSTRACT FROM AUTHOR]

Introduction: Almost one third of people affected by leprosy in Colombia suffer from disability, which often results from delayed diagnosis and treatment. We aimed to explore the experience of people affected by leprosy during the process of diagnosis and treatment and if and how this experience was influenced by peers. Methods: A qualitative study using body map stories was conducted from October 2019 to February 2020 in Colombia. Adult people affected by leprosy were recruited through patient associations in different cities. We conducted three sessions with an average duration of 2–3 h per participant, during which the participants created a painted map of their body and chose symbols to represent their experience, while being engaged in an informal interview. The sessions were audio recorded, transcribed verbatim and analyzed thematically by an interdisciplinary team, consisting of physicians, social workers and a person affected by leprosy. Results: The 17 study participants (11 female) were aged 20 to 70 years. Leprosy-related manifestations ranged from no to advanced disability. Some participants were active members of associations for people affected by leprosy. Three main themes were identified during analysis: (1) A long pathway to diagnosis, (2) Therapy as a double-edged sword and (3) The influence of other people affected by leprosy. The participants described an often years-long process until being diagnosed, which was marked by insecurities, repeated misdiagnosis, and worsening mental and physical health. Delayed diagnosis was related to late health care seeking, but also to inadequate health communication, lack of leprosy-related knowledge and negligence among health care workers. A high desire to cure motivated the participants to take their medication rigorously, despite the high treatment burden. Support from peers, either within the own social environment or provided from associations, contributed to a faster diagnosis and increased therapy adherence. Peers helped to recognize the symptoms, urged patients to seek care, recommended physicians with leprosy-related knowledge and provided a realistic example of both disease severity and curability. Conclusion: People affected by leprosy experience a significant burden during the process of diagnosis and treatment. Involving well-trained peers could foster early diagnosis, treatment compliance and prevention of disability. [ABSTRACT FROM AUTHOR]

Background: The first COVID-19 wave in 2020 necessitated temporary suspension of non-essential medical services including organized cancer screening programs in Belgium. This study assessed the impact of the pandemic on breast cancer (BC) incidence, stage at diagnosis, and management in Belgium in 2020. Methods: All Belgian residents diagnosed with in situ or invasive BC in 2015–2020 in the nationwide, population-based cancer registry database were included. Incidence trends for 2015–2019 were extrapolated to predict incidence and stage distribution for 2020 and compared with the observed values. National healthcare reimbursement data were used to examine treatment strategies. Exact tumor diameter and nodal involvement, extracted from pathology reports, were analyzed for 2019 and 2020. Results: 74,975 tumors were selected for analysis of incidence and clinical stage. Invasive BC incidence declined by -5.0% in 2020, with a drop during the first COVID-19 wave (Mar-Jun; -23%) followed by a rebound (Jul-Dec; +7%). Predicted and observed incidence (in situ + invasive) was not different in patients < 50 years. In the 50–69 and 70 + age groups, significant declines of -4.1% and − 8.4% respectively were found. Excess declines were seen in clinical stage 0 and I in Mar-Jun, without excess increases in clinical stage II-IV tumors in Jul-Dec. There was no increase in average tumor diameter or nodal involvement in 2020. Patients diagnosed in Mar-Jun received significantly more neoadjuvant therapy, particularly neoadjuvant hormonal therapy for patients with clinical stage I-II BC. Conclusions: BC incidence decline in 2020 in Belgium was largely restricted to very early-stage BC and patients aged 50 and over. Delayed diagnosis did not result in an overall progression to higher stage at diagnosis in 2020. Observed treatment adaptations in Belgium were successful in prioritizing patients for surgery while preventing tumor progression in those with surgical delay. Continuation of monitoring BC incidence and stage in the future is crucial. [ABSTRACT FROM AUTHOR]