Diagnostic Delay In Patients Research Articles

Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis.

Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition with a wide range of genotype/phenotype presentations. It is frequently diagnosed late in its course, particularly in sporadic cases. Analysing predictors of diagnostic delay in this subpopulation should be, therefore, a priority. 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (ULS Santa Maria-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. Diagnostic delay was compared between different decades with a Kruskal-Wallis test, and its predictors were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. The median diagnostic delay was 1262days. There was a non-significant difference in diagnostic delay between the 80s, 90s, 2000s and 2010s decades. There was a non-significant trend for a longer diagnostic delay in woman and in patients having no neurologic symptoms at onset. There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.

Spatiotemporal distribution and risk factors for patient and diagnostic delays among groups with tuberculous pleurisy: an analysis of 5-year surveillance data in eastern China.

To understand and analyze the factors relating to patient and diagnostic delays among groups with tuberculous pleurisy (TP), and its spatiotemporal distribution in Zhejiang Province. Data 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. In 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. In 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.

Quantifying Diagnostic Delays in Patients with Indolent and Aggressive Systemic Mastocytosis

Quantifying Diagnostic Delays in Patients with Indolent and Aggressive Systemic Mastocytosis

A Shortened Diagnostic Interval and Its Associated Clinical Factors and Related Outcomes in Inflammatory Bowel Disease Patients from a Cohort Study in China.

The diagnosis of inflammatory bowel disease (IBD) worldwide is complicated and results in diagnostic delay. However, the diagnostic interval of IBD and the factors associated with diagnostic delay in patients in China have not been determined. We retrospectively analyzed clinical data of hospitalized IBD patients in Peking Union Medical College Hospital from January 1998 to January 2018. Patients were divided into non-delayed and delayed groups according to their diagnostic interval. A total of 516 and 848 patients were confirmed to have Crohn's disease (CD) and ulcerative colitis (UC), respectively. The median diagnostic intervals were 6 and 20 months in patients with UC and CD, respectively (P<0.05). A decreasing trend in the diagnostic interval for IBD was observed over time, from 9 months to 1 month in UC patients and from 30 months to 3 months in CD patients. The longest diagnostic interval was 29.5 months in CD patients with first symptoms at the age of 51-60 years and 12.5 months in UC patients at the age of 41-50 years. In patients with CD, intestinal obstruction (OR=2.71), comorbid diabetes (OR=4.42), and appendectomy history (OR=2.18) were risk factors for diagnostic delay, whereas having fever as the first symptom may reduce its risk (OR=0.39). In patients with UC, the misdiagnosis of chronic enteritis (OR=2.10) was a risk factor for diagnostic delay. The diagnostic interval for IBD has decreased over the years. Some clinical manifestations, such as initial symptoms and age at symptom onset, may help to shorten this interval. Diseases such as tuberculosis and infectious enteritis should be considered during differentiation.

Diagnostic Delay in Patients with Osteoid Osteoma.

To assess diagnostic delay in patients with osteoid osteoma and to analyze influencing factors. All patients treated for osteoid osteoma at our tertiary referral center between December 1997 and February 2021 were retrospectively identified (n = 302). The diagnosis was verified by an expert panel of radiologists and orthopedic surgeons. The exclusion criteria were post-interventional recurrence, missing data on symptom onset, and lack of pretherapeutic CT images. Clinical parameters were retrieved from the local clinical information system. CT and MR images were assessed by a senior specialist in musculoskeletal radiology. After all exclusions, we studied 162 patients (mean age: 24 ± 11 years, 115 men). The average diagnostic delay was 419 ± 485 days (median: 275 days; range: 21-4503 days). Gender, patient age, presence of nocturnal pain, positive aspirin test, extent of bone sclerosis, and location of the tumor within bone and relative to joints did not influence diagnostic delay (p > 0.05). It was, however, positively correlated with nidus size (r = 0.26; p < 0.001) and was shorter with affection of long tubular bones compared to all other sites (p = 0.04). If osteoid osteoma was included in the initial differential diagnoses, the diagnostic delay was also shorter (p = 0.007). The diagnostic delay in patients with osteoid osteoma is independent of demographics, clinical parameters, and most imaging parameters. A long average delay of more than one year suggests low awareness of the disease among physicians. Patients with unclear imaging findings should thus be referred to a specialized musculoskeletal center or an expert in the field should be consulted in a timely manner. · In this retrospective study of 162 patients treated for osteoid osteoma, the median diagnostic delay was 275days (range: 21-4503 days).. · Gender, age, presence of nocturnal pain, positive aspirin test, extent of bone sclerosis, and location of the tumor did not influence the diagnostic delay (p > 0.05).. · Diagnostic delay was positively correlated with nidus size (r = 0.26; p < 0.001) and was shorter with affection of long tubular bones compared to all other sites (376 ± 485 vs. 560 ± 462 days; p = 0.04)..

Diagnostic work-up and surgical management of insulinoma: A retrospective analysis from a tertiary referral center.

Insulinoma is a multifaceted disease that poses several challenges in terms of clinical presentation, diagnostic work-up, and surgical management. The aim of this study was to describe diagnostic work-up, surgical management, and postoperative outcomes of patients with insulinoma. All consecutive patients who underwent surgery for insulinoma at San Raffaele Hospital (Milan, Italy) between January 2008 and January 2022 were included. Overall, 98 patients were considered. The median delay between presenting symptoms and insulinoma diagnosis was 10 months (IQR, 4-21). Insulinoma diagnosis was made at our Institution in 45 patients, 20 of whom referred within 6 months from symptoms onset. In this subgroup, the median interval between symptoms presentation and insulinoma diagnosis was 4 months (IQR, 2-6), as compared to 14 months (IQR, 10-26) in patients (n = 25) who referred to our institution after 6 months from symptoms onset (p < .001). The insulinoma was localized preoperatively in all the cases. All patients underwent ≥1 high-quality imaging: computed tomography (CT: n = 87, sensitivity 84%), magnetic resonance imaging (MRI: n = 55, sensitivity 85%) and endoscopic ultrasound (EUS: n = 79, sensitivity 100%). MRI identified the tumor in eight patients with negative CT. EUS localized the insulinoma in three patients with negative CT and negative MRI. Parenchyma-sparing resections were performed in 41 patients. Contact with major vessels, lesion close to Wirsung duct and suspect of malignancy were the main reasons to perform a formal resection. An early referral to high-volume centers is important for reducing diagnostic delay in patients with insulinoma. The diagnostic work-up of insulinoma frequently requires several imaging modalities to be performed, with EUS being the most sensitive one. Parenchyma-sparing surgery for insulinoma should be performed whenever technically and oncologically feasible.

Diagnostic delay in psoriatic arthritis: insights from a nationwide multicenter study.

This study aimed to investigate the duration of diagnostic delay in patients with psoriatic arthritis (PsA) and identify potential contributing factors using a comprehensive, population-based approach. Data were obtained from the Turkish League Against Rheumatism (TLAR)-Network, involving patients who met the CASPAR criteria. Diagnostic delay was defined as time interval from symptom onset to PsA diagnosis, categorized as ≤ 2 years and > 2 years. Temporal trends were assessed by grouping patients based on the year of diagnosis. Various factors including demographics, clinical characteristics, disease activity, quality of life, physical function, disability, fatigue, and well-being were examined. Logistic regression models were used to identify factors associated with diagnostic delay. Among 1,134 PsA patients, mean diagnostic delay was 35.1 months (median: 12). Approximately 39.15% were diagnosed within 3 months, and 67.02% were diagnosed within 24 months. Patients experiencing longer delays had higher scores in Psoriatic Arthritis Quality of Life Questionnaire (PsAQoL), Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-Fatigue), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), patient's global assessment (PtGA) and physician's global assessment (PhGA). Diagnostic delay has decreased over time, with median delay falling from 60 to 24 months throughout pre-2010 and 2015-2019 terms. Several factors were identified as significant contributors to delayed diagnosis, including lower levels ofeducation (OR = 2.63), arthritis symptoms preceding skin manifestations (OR = 1.72), low back pain at first visit (OR = 1.60), symptom onset age (OR = 0.96), and psoriasis subtype (OR = 0.25). Timely diagnosis of PsA is crucial for effective management and improved outcomes. Despite recent improvements, about one-third of PsA patients still experience delays exceeding 2 years. By identifying influential factors such as education level, arthritis symptoms preceding skin manifestations, initial visit symptoms, age of symptom onset, and psoriasis subtype, healthcare practitioners may create specific techniques to help in early detection and intervention.

Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review

BackgroundHereditary and wild-type transthyretin-mediated (ATTRv and ATTRwt) amyloidoses result from the misfolding of transthyretin and aggregation of amyloid plaques in multiple organ systems. Diagnosis of ATTR amyloidosis is often delayed due to its heterogenous and non-specific presentation. This review investigates the association of musculoskeletal (MSK) manifestations with ATTR amyloidosis and the delay from the onset of these manifestations to the diagnosis of ATTR amyloidosis.MethodsThis systematic review utilized Medline and EMBASE databases. Search criteria were outlined using a pre-specified patient, intervention, comparator, outcome, time, study (PICOTS) criteria and included: amyloidosis, ATTR, and MSK manifestations. Publication quality was assessed utilizing Joanna Briggs Institute (JBI) critical appraisal checklists.The search initially identified 7,139 publications, 164 of which were included. PICOTS criteria led to the inclusion of epidemiology, clinical burden and practice, pathophysiology, and temporality of MSK manifestations associated with ATTR amyloidosis. 163 publications reported on ATTR amyloidosis and MSK manifestations, and 13 publications reported on the delay in ATTR amyloidosis diagnosis following the onset of MSK manifestations.ResultsThe MSK manifestation most frequently associated with ATTR amyloidosis was carpal tunnel syndrome (CTS); spinal stenosis (SS) and osteoarthritis (OA), among others, were also identified. The exact prevalence of different MSK manifestations in patients with ATTR amyloidosis remains unclear, as a broad range of prevalence estimates were reported. Moreover, the reported prevalence of MSK manifestations showed no clear trend or distinction in association between ATTRv and ATTRwt amyloidosis.MSK manifestations precede the diagnosis of ATTR amyloidosis by years, and there was substantial variation in the reported delay to ATTR amyloidosis diagnosis. Reports do suggest a longer diagnostic delay in patients with ATTRv amyloidosis, with 2 to 12 years delay in ATTRv versus 1.3 to 1.9 years delay in ATTRwt amyloidosis.ConclusionThese findings suggest that orthopedic surgeons may play a role in the early diagnosis of and treatment referrals for ATTR amyloidosis. Detection of MSK manifestations may enable earlier diagnosis and administration of effective treatments before disease progression occurs.

Abstract PD1-02: Evaluating Racial and Ethnic Disparities in Diagnostic Breast Imaging: A Retrospective Cohort Study

Abstract Purpose: The purpose of this study is to examine the association between race/ethnicity and diagnostic delays in patients with abnormal screening mammograms. Methods: HIPAA-compliant, institutional review board exempt retrospective cohort study was performed at a multi-location academic medical center located in the Midwest. Patients included women aged 40-74 years old undergoing screening mammography from 2013-2019 who received a Breast Imaging Reporting and Data System (BI-RADS) category 0 on their screening mammogram, derived from the electronic medical records. Primary outcome variables included timely follow up diagnostic imaging (&amp;lt; 30 days), days to diagnostic exam, timely recommended biopsy (&amp;lt; 60 days), and days to recommended biopsy. Primary exposure variables included race (American Indian/Alaska Native, Asian/Native Hawaiian/Other Pacific Islander, Black or African American, White) and ethnicity (Hispanic/Latino, and Not Hispanic/Latino). Binary outcomes (timely follow up diagnostic imaging, timely recommended biopsy) were analyzed using logistic regression and continuous outcomes (days to diagnostic exam, days to recommended biopsy) were analyzed using Cox proportional hazards regression, adjusted for potential confounders (insurance, age, preferred language, having primary care doctor, married or domestic partnership, availability of on-site diagnostic imaging). Results: 13,269 unique patients received BI-RADS category 0 on screening mammogram (mean age 54.6). Adjusted for potential confounders, Black (OR 0.54, 95% CI 0.42 to 0.69, p &amp;lt; 0.001) and Asian (OR 0.62, 95% CI 0.45 to 0.85, p = 0.004) patients were less likely to have timely follow up diagnostic imaging compared to White patients. American Indian and Hispanic patients were comparably likely to have timely follow up diagnostic imaging (p &amp;gt; 0.05). Black (HR 0.76, 95% CI 0.69 to 0.84, p &amp;lt; 0.001), Asian patients (HR 0.78, 95% CI 0.70 to 0.87, p &amp;lt; 0.001), and Hispanic patients (HR 0.90, 95% CI 0.82 to 0.99, p = 0.041) experienced increased days to diagnostic examinations compared with White patients. American Indian patients experienced comparable times to diagnostic examinations (p = 0.136). 22.3% of patients received recommendations for biopsy (2,796/12,535). No statistically significant differences were found in timely follow up after recommended biopsy (&amp;lt; 60 days) comparing Black, Asian, American Indian, and Hispanic to White patients (p &amp;gt; 0.05). Black, American Indian, and Hispanic patients experienced comparable days to recommended biopsy (p &amp;gt; 0.05). Asian patients experienced increased days to recommended biopsy (HR 0.76, 95% CI 0.58 to 0.99, p = 0.046). Conclusions: Racial/ethnic minority patients are more likely to experience diagnostic delays after screening mammograms. Further research into culturally appropriate patient navigation services and improved accessibility of diagnostic imaging centers (operating hours, same day services, transportation, parking) to reduce disparities in diagnostic imaging delays is warranted. Citation Format: Arissa Milton, Ryan Woods, Mai Elezaby, Joan Neuner, Kelly Hackett, Anand Narayan, Roberta Strigel. Evaluating Racial and Ethnic Disparities in Diagnostic Breast Imaging: A Retrospective Cohort Study [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr PD1-02.

P255 Diagnostic delay and economic burden in Inflammatory Bowel Disease: a single-centre experience in patients treated with biologics

Abstract Background Inflammatory Bowel Disease (IBD), Crohn's Disease (CD) and Ulcerative Colitis (UC), are chronic and immune-mediated diseases with a relapsing-remitting trend. The overall incidence of these diseases is increasing. However, it is estimated that more than one third of patients experienced symptoms for more than one year before diagnosis. Delay in IBD diagnosis has several clinical, therapeutic and economic implications. Early diagnosis and proper treatment are the cornerstones for improving the standard of care for these patients.This study aims to evaluate the diagnostic delay in patients with IBD and to analyze the clinical and economic burden of the delay in IBD diagnosis in patients treated with biological drugs. Methods An observational and retrospective study was performed in IBD patients, regularly followed in our IBD Unit. Data regarding delay in IBD diagnosis were assessed through a questionnaire evaluating the disease course. Moreover, data about biologics dispensation were obtained from the medical records in the period 2014-2020. Results 606 IBD patients were enrolled. The median delay in IBD diagnosis was 5.0 months (IQR:1.0 11.0); it was statistically lower in UC patients (4 months (IQR: 1.0 12.0)) compared to CD (6 months (IQR: 2.0 12.0)) ( p =0.041). Of these 606, 229 patients were treated with biological therapy; in this subgroup 58.9% showed a diagnostic delay. The statistical analysis showed that the diagnostic delay was statistically significant associated with biological drugs (p=0.041). Conversely, there was no association with surgical treatment. Moreover, it has appeared that the diagnostic delay is associated, with a trend of statistical significance, with need to switch or swap to other biologics (p=0.058). Regarding economic burden, patients with delayed diagnosis have significantly higher median annual cost of biological therapy than patients without diagnostic delay (€7179.26 vs € 5131.51 p= 0.009). Conclusion The diagnostic delay in IBD represents a challenge with clinical, therapeutic and economic impact. It’s crucial to cooperate with general practitioner and gastroenterologists not dedicated to IBD in order to reduce the diagnostic delay and guarantee an effective, appropriate and early treatment that will improve the patients’ quality of life and meanwhile reduce the health care system costs.

Bias Among Health Care Professionals: How Prejudice Leads to Diagnostic Delay in Patients Using Anabolic–Androgenic Steroids

Introduction: Anabolic–androgenic steroids (AASs) are commonly used by both professional and amateur athletes to improve strength, muscle mass, and physical appearance. Aims: Scientific data on the adverse effects of AASs are scarce and there is little place for the subject in medical curricula. This may lead to a lack of knowledge and distrusting attitudes of physicians toward AAS users. The aim of this case series is to illustrate how these issues may lead to diagnostic delay and to make a plea for better education on the topic. Case Description: We describe three patients who attended our outpatient AAS clinic with azoospermia, gynecomastia, and hypogonadism, respectively. After referral to the appropriate specialist, symptoms were wrongly appreciated, sometimes despite our medical recommendations, and patients did not receive the necessary additional investigations or treatment in a timely manner. Discussion: Diagnostic delay in the presented cases was the result of inexperience with the subject and unfamiliarity with health effects of AASs. Prejudice and stigmatization may lead to a tendency to wait, and a reluctance to help, (former) AAS users. Conclusion: All patients and substance abusers, including AAS users, should be treated equally, despite the cause of their illness. Diagnostic delay can be prevented with an unbiased attitude and improved education.

Effect of neurofilament analysis on the diagnostic delay in amyotrophic lateral sclerosis.

The aim of this study was to investigate whether neurofilament light (NfL) and phosphorylated neurofilament heavy (pNfH) in cerebrospinal fluid (CSF), sampled prior to referral to a neuromuscular reference center (NMRC), shorten the diagnostic delay in patients with amyotrophic lateral sclerosis. In this retrospective study, patients with ALS were included with (i) determination of neurofilaments (Nfs) before referral to the NMRC (preC-Nfs ALS, n= 58), (ii) determination of Nfs at the NMRC (C-Nfs, n= 54) or (iii) with no determination of Nfs (C-No Nfs, n= 180). Fifty-six disease controls were included. The preC-Nfs cohort had CSF sampled 2.2months (range: 0.6-12.0months) before referral to the NMRC. In this cohort, the diagnostic delay was significantly shorter [median (range): 8.24 (2.37-49.7) months] than in the C-Nfs cases [median (range): 11.4 (2.93-86.5) months; p< 0.05], but not in the C-No Nfs cases. When including the disease progression rate and the presence of a genetic mutation as covariates, the difference ceased to exist (p= 0.14). pNfH and NfL levels in the preC-Nfs cohort were significantly higher than in disease controls (p< 0.0001). Both Nfs showed a similar discriminating performance. CSF Nfs assessed before the diagnosis of ALS at a NMRC decreased the diagnostic delay in specific cases by 3months and only when other covariates were not taken into account.

Relationship between time from symptom’s onset to diagnosis and prognosis in patients with symptomatic colorectal cancer

BackgroundControversy exists regarding the relationship of the outcome of patients with colorectal cancer (CRC) with the time from symptom onset to diagnosis. The aim of this study is to investigate this association, with the assumption that this relationship was nonlinear and with adjustment for multiple confounders, such as tumor grade, symptoms, or admission to an emergency department.MethodsThis multicenter study with prospective follow-up was performed in five regions of Spain from 2010 to 2012. Symptomatic cases of incident CRC from a previous study were examined. At the time of diagnosis, each patient was interviewed, and the associated hospital and clinical records were reviewed. During follow-up, the clinical records were reviewed again to assess survival. Cox survival analysis with a restricted cubic spline was used to model overall and CRC-specific survival, with adjustment for variables related to the patient, health service, and tumor.ResultsA total of 795 patients had symptomatic CRC and 769 of them had complete data on diagnostic delay and survival. Univariate analysis indicated a lower HR for death in patients who had diagnostic intervals less than 4.2 months. However, after adjustment for variables related to the patient, tumor, and utilized health service, there was no relationship of the diagnostic delay with survival of patients with colon and rectal cancer, colon cancer alone, or rectal cancer alone. Cubic spline analysis indicated an inverse association of the diagnostic delay with 5-year survival. However, this association was not statistically significant.ConclusionsOur results indicated that the duration of diagnostic delay had no significant effect on the outcome of patients with CRC. We suggest that the most important determinant of the duration of diagnostic delay is the biological profile of the tumor. However, it remains the responsibility of community health centers and authorities to minimize diagnostic delays in patients with CRC and to implement initiatives that improve early diagnosis and provide better outcomes.

Diagnostic Delay in Patients With Eosinophilic Esophagitis Has Not Changed Since the First Description 30 Years Ago: Diagnostic Delay in Eosinophilic Esophagitis.

Eosinophilic esophagitis (EoE) is a chronic progressive disease. Diagnostic delay (DD) is associated with increased risk of esophageal strictures and food impactions. We aimed to assess the evolution of DD since the first description of EoE in 1993 until 2021. We analyzed data from patients prospectively included in the Swiss EoE database. DD was calculated as the time interval between the first occurrence of EoE symptoms and the confirmed diagnosis. DD was analyzed annually over time (1989-2021) and according to milestone publications in the field (1993: first description; 2007: first consensus recommendations; and 2011: updated consensus recommendations). In addition, a Cox proportional hazards model has been used to describe the relation between DD and covariates. Complete data of 1,152 patients (857 male [74%]; median age at diagnosis: 38 years, interquartile range: 28-49, range: 1-86) were analyzed. Overall, median DD was 4 years (interquartile range: 1-11, range, 0-56), with DD ≥ 10 years in 32% of the population. Over time, DD did not significantly change, neither annually nor according to release dates of milestone publications with a persistently stable fraction of roughly one-third of all patients with a DD of ≥10 years. Both ages at diagnosis ( P < 0.001, with an increase in DD up to the age of 31-40 years) and at symptom onset (younger patients had a longer DD; P < 0.001) were significantly associated with DD. DD has not changed since the first description of EoE almost 30 years ago and remains substantial. Even today, one-third of patients have a persistently high DD of ≥10 years. Substantial efforts are warranted to increase awareness for EoE and its hallmark symptom, solid food dysphagia, as an age-independent red-flag symptom among healthcare professionals and presumably the general population alike to lower risk of long-term complications.

Non-radiographic axial spondyloarthritis in South America. Burden of disease and differential features with respect to ankylosing spondylitis at time of diagnosis. A comprehensive analysis with a focus on images.

Non-radiographic axial spondyloarthritis (nr-axSpA) data from South America are scarce, especially regarding image features. Objective To estimate the frequency of nr-axSpA and ankylosing spondylitis (AS) in a cohort of Argentinian patients with chronic low back pain (LBP) and to analyze the difference between both, with focus on magnetic resonance imaging (MRI) lesions, at diagnosis. Patients with LBP and a diagnosis of axSpA who participated in a reuma-check program were included. All patients with a suspicion of SpA were evaluated using blood analytics, HLA-B27, and images (MRI). Sociodemographic data, SpA features, diagnostic dela,y and clinimetrics were assessed by an operator who was blinded to the patient's test results. On MRI, the presence of SpA lesions was assessed and a concordance exercise was carried out between rheumatologists and radiologist. Of 198 LBP patients, 97 had axSpA, 54% of whom were nr-axSpA. A positive MRI was found in 50%. No difference in terms of disease activity, functional impact, laboratory or treatments between nr-axSpA and AS were found. Higher frequencies of male sex and chronic lesions on sacroiliac MRI were found in AS patients. In the logistic regression, an independent association with AS diagnosis was found: male (odds ratio [OR] 4.8), MRI fat replacement (OR 4.6), MRI sclerosis (OR 7.6), and diagnostic delay of more than 2 years (OR 10). The concordance between rheumatologists and radiologists was considered good to very good (κ 0.7-0.8). The frequency of nr-axSpA was 54%. We found a higher frequency of being male, more SpA features, and a longer diagnostic delay in patients with AS. Patients with AS had more structural lesions, with a good concordance between rheumatologist and radiologist.

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

BackgroundThis paper aimed to evaluate the frequency of observation of genetically determined developmental encephalopathies with epilepsy and movement disorders in a specialistic center, the distribution of etiologies and presenting clinical hallmarks, and the mean times for the achievement of molecular genetic diagnosis.Patients and MethodsRetrospective data about clinical phenotypes, etiology, and diagnostic pathways were collected in all the genetically confirmed patients with developmental encephalopathies with epilepsy and movement disorders referred to our institution between 2010 and 2020. The cohort was divided into two groups according to the predominant movement disorder type: 1) Group A: patients with hyperkinetic movement disorders; 2) Group B: patients with hypokinetic movement disorders. Both groups were analyzed in terms of developmental, epileptic, and movement disorder phenotypes.ResultsThe cohort included 69 patients (Group A = 53; Group B = 16). The etiological spectrum was heterogeneous with a predominance of Rett and Angelman syndrome in Group A and neurodegenerative disorders in Group B. A moderate/severe intellectual disability was assessed in 58/69 patients (mean age at the first signs of developmental impairment = 1,87 ± 1,72 years). Group A included patients with an earlier onset of epileptic seizures (2,63 ± 3,15 vs. 4,45 ± 5,55 years of group B) and a predominant generalized motor semiology of seizures at the onset. Focal seizures were the main initial epileptic manifestations in Group B. Seizures were noticed earlier than movement disorders in Group A while the opposite occurred in Group B. A higher increase in molecular genetic diagnosis was obtained in the last five years. Mean diagnostic delay was longer in Group B than in Group A (12,26 ± 13,32 vs. 5.66 ± 6.41 years). Chorea as an initial movement disorder was associated with a significantly longer diagnostic delay and a higher age at etiological diagnosis.ConclusionsThis study suggested: (a) a higher frequency of genetic defects involving neurotransmission, neuronal excitability, or neural development in patients with hyperkinetic movement disorders; (b) a higher frequency of neurodegenerative courses and a longer diagnostic delay in patients with hypokinetic movement disorders.

Clinical characteristics of patients with spondyloarthritis and inflammatory bowel disease versus inflammatory bowel disease-related arthritis.

The purpose of this study was to clarify the clinical characteristics of spondyloarthritis (SpA) patients with inflammatory bowel disease (IBD) compared to those without IBD. Furthermore, among patients with SpA and IBD, we aimed to clarify what clinical characteristics lead rheumatologists to diagnose "IBD-related arthritis." Utilizing SpA and psoriatic arthritis (PsA) patients' data from an international, cross-sectional, observational study, we analyzed information on demographics and disease characteristics, dichotomizing patients by IBD status. The presence or absence of IBD was determined based on data collection of treating rheumatologists. Patients with SpA (including PsA) and IBD were also categorized based on treating rheumatologists' definitive diagnosis in regard to SpA type, and compared by whether the patients had IBD-related arthritis or not. Among 4465 SpA patients, 287 (6.4%, 95%CI 5.7-7.2%) were identified with IBD. Compared to SpA patients without IBD, patients with SpA and IBD had a longer diagnostic delay (5.1 vs. 2.9years, p < 0.001). In patients with SpA and IBD, 111 (38.7%, 95%CI 33.0-44.6%) were diagnosed with IBD-related arthritis. Multivariable analyses showed that HLA-B27 positivity [OR = 0.35, (95%CI 0.15-0.80)], psoriasis [OR = 0.14, (95%CI 0.04-0.50)], IBD as first symptom of SpA [OR = 3.32, (95%CI 1.84-6.01)], and need for IBD-specific treatment [OR = 5.41, (95%CI 2.02-14.50)] were independently associated with the definitive diagnosis of IBD-related arthritis. Collaboration with gastroenterologists is needed to shorten the diagnostic delay in patients with SpA and IBD. The recognition of the factors for the diagnosis of "IBD-related arthritis" may lead to the elucidation of the pathogenesis.

Analysis of disease progression rate and related factors in amyotrophic lateral sclerosis patients at initial visit

Objective: To find out the relationship of the progression rate of amyotrophic lateral sclerosis (ALS) patients with relevant clinical indicators at initial visit so as to enrich the knowledge of ALS at its early stage. Methods: The clinical data of 282 patients diagnosed with ALS at Neurology Department of the First Medical Center, Chinese PLA General Hospital from June 2016 to March 2021 were collected in order to make a retrospective analysis of the dynamic change of the progression rate (ΔFS) and influencing factors, and thus a classification of the progression rate will be summarized. Results: Among 282 patients, 164 were males and 118 were females. The age of onset was (53±11) years old. The ΔFS had a negative exponential relationship with delay time of diagnosis no matter what kinds of onset the patients experienced (upper limb onset, lower limb onset or bulbar onset). The ΔFS for the limb function sub-group had a similar functional relationship with diagnostic delay in patients with either upper limb onset or lower limb onset. The statistical model indicated that the disease progression rate of ALS at initial visit can be classified into three types (high speed type: ΔFS≥1.0 score/month; moderate speed type: 0.5≤ΔFS<1.0 score/month; low speed type: ΔFS<0.5 score/month). The critical values of the three types in patients with upper limb onset were 8 and 20 months, while 9 and 24 months for lower limb onset patients, and 9 and 36 months for bulbar onset patients. At initial visit, there were significant statistical differences among these three types in age at onset (P=0.008), diagnostic delay (P<0.001), ALS functional rating scale-revised (ALSFRS-R) score (P<0.001) and onset site (P=0.006). The age at onset in moderate speed type was significantly greater than that of the slow speed type [(54.9±10.4) years vs (50.2±9.6) years, P=0.002]. The diagnostic delay in high speed type [6 (4, 10) months] was significantly shorter than that in moderate speed type [12 (8, 19) months, P<0.001] and low speed type [22 (14, 36) months, P<0.001], and the moderate speed type was shorter in comparison with low speed type (P<0.001). As for the ALSFRS-R score, the high speed type [36(32, 39)] was significantly lower than the moderate speed type [39 (36, 42), P<0.001] and low speed type [42 (39, 44), P<0.001], and the moderate speed type was lower in comparison with low speed type (P=0.002). The proportion of cases with upper limb onset in high speed type (20.3%) was significantly lower than that in low speed type (42.2%, P<0.001) and moderate speed type (37.5%, P=0.014). By contrast, the proportion of cases with lower limb onset in high speed type (39.2%) was significantly higher than that in low speed type (28.9%, P=0.023), however no difference was shown between the fast speed type and moderate speed type (32.0%, P=0.061). There was no difference among these three progression types in patients with bulbar onset. Conclusions: The disease progression rate of ALS at initial visit can be classified into three types including high speed, moderate speed and low speed. At early stage of ALS, ΔFS is affected by onset age, onset site, diagnostic delay and ALSFRS-R score.

Total, Patient and System Diagnostic Delays for Pulmonary Bacilliferous Tuberculosis in the Six Diagnostic and Treatment Centers in the Five Health Districts of the Central Region, Burkina Faso, 2018

IntroductionLong diagnosis delay contributes significantly to the failure to eradicate tuberculosis. The objective of this study was to evaluate the total, patient and system delays in diagnosis of pulmonary bacilliferous in the six tuberculosis Diagnostic and Treatment Centers in the five health districts of the central region in Burkina Faso.MethodsA descriptive cross-sectional study was conducted among 384 microscopy-positive pulmonary tuberculosis patients in 2018 to address this objective. It concerned the socio-demographic, clinical, microbiological characteristics, and referral location/pathway characteristics of the patients. We then calculated the different delays. The “patient” (time from first symptoms to first consultation), “system” (time from first consultation to first diagnosis) and total (time from first symptoms to diagnosis) median diagnostic delay were estimated.ResultsThe median “total”, “patient” and “system” diagnostic times were 37, 21 and 7 days, respectively. Of the 384 patients surveyed, 158 patients or 41.25% of patients had a long total diagnostic delay (> 45 days). The number of patients with a long system diagnostic delay was 125 patients (32.55%; p < 0.001) and those with a long patient diagnostic delay were 105 patients (27.34%; p < 0.001).ConclusionThe total diagnosis delay of pulmonary tuberculosis was long for almost half of the patients. Awareness of the signs of tuberculosis among patients and caregivers, and consultation in a health center must be intensified to help considerably reduce these delays.

Diagnostic Delay in Epilepsy: the Scope of the Problem.

Diagnostic delay is an increasingly recognized issue in epilepsy. At the same time, there is a clear disparity between public awareness of epilepsy and that of other public health issues. A contributing factor for this seems to be a lack of studies testing interventions designed to improve seizure recognition. In this review, we summarize the main findings from recent studies investigating diagnostic delay in epilepsy, highlighting causes, consequences, and potential interventions in future research that may improve quality of care in this population. Building on prior evidence, diagnostic delay in patients with new-onset focal epilepsy has been identified as an important problem for patients with epilepsy. Such delay in diagnosis can lead to delayed treatment and potentially preventable morbidity and mortality including motor vehicle accidents. Nonmotor seizure semiology appears to be a major contributor for delay; such seizures are largely unrecognized when patients present to emergency departments for care. Improving recognition and diagnosis of recurrent nonmotor seizures in emergency departments represents a significant opportunity for improving time to diagnosis, particularly when patients present following a first lifetime motor seizure and meet diagnostic criteria for epilepsy. Diagnostic delay in epilepsy is a significant public health issue and recent studies have highlighted potential areas for intervention.