Delay In Diagnosis Research Articles

Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey.

Timely diagnosis is one of the most serious challenges faced by people living with a rare disease (PLWRD), and this study estimates that in Europe, the average total diagnosis time (TDT) is close to 5 years. We investigated the duration of the TDT for PLWRD in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases (RD). We conducted a survey of PLWRD and their families using Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe. In geographical Europe, we surveyed 6507 people living with 1675 RD in 41 countries. We then performed a descriptive analysis and ordinal logistic regressions to identify the main determinants of diagnosis delays. Average TDT is 4.7 years. 56% of respondents were diagnosed more than 6 months after a first medical contact. The main determinants of diagnosis delays are symptom onset before 30 years of age, especially during childhood (OR = 3.11; 95% CI: 2.4-4.0) and adolescence (OR = 4.79; 95% CI: 3.7-6.2), being a woman (OR = 1.22; 95% CI:1.1-1.4), living in Northern Europe (OR = 2.15; 95% CI:1.8-2.6) or Western Europe (OR = 1.96; 95% CI:1.6-2.3), the number of healthcare professionals consulted (OR = 5.15; 95% CI:4.1-6.4), misdiagnosis (OR = 2.48; 95% CI:2.1-2.9), referral to a centre of expertise (OR = 1.17; 95% CI:1.0-1.3), unmet needs for psychological support (OR = 1.34; 95% CI:1.2-1.5) and financial support (OR = 1.16; 95% CI:1.0-1.3), having a genetic disease (OR = 1.33; 95% CI:1.1-1.5) and a family history of an RD (OR = 1.36; 95% CI:1.1-1.6). These determinants can inform policies and actions to improve access to diagnosis for all PLWRD.

Time to ECG diagnosis delays inter-hospital transfer to revascularization in STEMI patients presenting to a regional emergency department: a five-year audit.

Reducing the door-to-balloon time (D2BT) in ST-elevation myocardial infarction (STEMI) patients maximizes myocardial salvage and mitigates morbidity/mortality. To assess the D2BT in STEMI patients requiring inter-hospital transfer for revascularization and identify any potential causes of delay. Consecutive patients presenting to the Connolly Hospital Blanchardstown (CHB) emergency department (ED) who were transferred to the Mater Misericordiae University Hospital in Dublin for primary percutaneous coronary intervention from January 2018 to October 2022 were identified in a regional database and their D2BTs calculated. D2BTs were further sub-categorized into key intervals to identify any potential causes of delay. A total of 90 patients were included for analysis, with a median D2BT of 117.5min (interquartile range [IQR]: 99.3-170.8min) and 52.5% of patients achieving the ≤ 120min target. Despite being the shortest interval considered, the time from arrival at the CHB ED to diagnostic electrocardiogram (ECG) was a substantial contributor to the overall delay to revascularization given its wide variability (median: 18.0min; IQR: 9.0-46.8min), with only 28.8% of patients achieving the ≤ 10min target. Nearly half of the patients studied failed to achieve the overall target D2BT for revascularization. The time from arrival at the CHB ED to diagnostic ECG was identified as a substantial contributor to this failure, with a median time almost twice that of the target and a quarter of all patients spending longer than 46.8min. These findings highlight a need to improve the implementation of ECG triage and interpretation in the ED.

Comparative Analysis of Pediatric Patients with Different Involvements of Brucellosis.

Brucellosis is a zoonotic disease that mimics many other diseases, making diagnosis difficult in pediatric patients. If the clinical signs of the disease are not well known and there is a delay in diagnosis and treatment, complicated brucellosis involving different body sites can develop. This study aimed to analyze the demographics, clinical information, laboratory test results, and imaging findings of children with brucellosis. Particular attention was paid to the involvement of organs and potential complications. Pediatric patients diagnosed with brucellosis at the Sanlıurfa Training and Research Hospital in Turkey were retrospectively evaluated. In total, 101 patients diagnosed with brucellosis were included in this study. Bone-joint involvement was observed in 21 (20.7%) patients. High Brucella Coombs gel test (CT) titers (≥1/640) and increased erythrocyte sedimentation rate (ESR) were significant in the bone-joint brucellosis group (P = 0.022 and P = 0.0205, respectively). Fourteen (13.9%) patients had at least one organomegaly in which Brucella CT titers and C-reactive protein (CRP) levels were substantially higher than those in patients without organomegaly (P = 0.02 and P = 0.0049, respectively). Anemia, leukopenia, and thrombocytopenia were observed in 36 (35.6%), 10 (9.9%), and 4 (3.9%) patients, respectively. At least one elevation in liver function test (LFT) results was observed in 32 (31.7%) patients. High acute-phase reactants, such as ESR, CRP levels, and Brucella CT titers, may help identify complicated brucellosis. This study highlights that pediatric brucellosis can lead to cytopenia and elevated LFT results and should therefore be considered as a differential diagnosis.

Squamous cell carcinoma of the nail in patients with Fitzpatrick phototypes IV-VI: a systematic review.

Squamous cell carcinoma of the nail unit (nSCC) is a rare malignant tumor of the hand and nail. Although skin cancer rarely affects individuals with phototypes IV-VI, its occurrence in these groups is often associated with greater morbidity and mortality. This study aims to characterize the clinical symptoms, presentations, and treatments of nSCC in patients with darker skin types. A systematic review of PubMed and Embase was performedin May 2023 for all peer-reviewed, English-language nSCC studies involving individuals with Fitzpatrick types IV-VI. Most tumors were located on the fingernails (84%), with the right third finger being the most frequently affected (31%). The nail bed (67%) exhibited a higher prevalence than the lateral/proximal nail folds (33%). The duration of symptoms before diagnosis ranged from 1 month to 7 years. nSCC was most commonly treated with Mohs surgery (38%), followed by amputation (35%). Our study was limited to case reports because of a lack of large nSCC studies that provide information on race or images of each patient. These tumors are generally slow-growing yet often misdiagnosed, leading to delays in presentation and diagnosis. Increased awareness about nSCC in phototype IV-VI individuals will reduce misdiagnoses, unnecessary treatment, and recurrences.

Effects of Exercise-Induced Laryngeal Obstruction in Adolescents: A Qualitative Study.

The purpose of this study was to examine the influence of exercise-induced laryngeal obstruction (EILO) on adolescents. Twenty patients (< 17 years) diagnosed with EILO participated in this study. Patients completed semistructured interviews examining their experience with the health care system, treatment, and the effects of EILO symptoms on quality of life. Interviews were analyzed using a combination of directed and conventional content analyses. Researchers identified seven overarching themes either prior to or during analysis, and 24 subthemes were inductively identified from patient interviews using open, axial, and selective coding. On average, patients went 1.9 years between symptom onset and EILO diagnosis. Patients described symptom onset as frightening and confusing. Even after initially reporting symptoms to a medical provider, patients went an average of 10.5 months before diagnosis. Patients perceived that delays in diagnosis prevented efficient management and allowed symptoms to escalate. Patients reported that EILO detrimentally influenced athletic performance, forcing them to pace themselves or cease participation altogether. Social and academic effects of EILO included missed classes, difficulty in physical education courses, and resentment from teammates if athletic performance declined. Both athletes and nonathletes indicated that EILO elicited feelings of fear, frustration, dread, guilt, and embarrassment. Patients reported that therapy with a speech-language pathologist (SLP) effectively addressed symptoms; however, employing rescue breathing techniques was often more difficult than anticipated. Physical and emotional sequelae associated with EILO may have widespread influence on patient quality of life. Therapy with an SLP reportedly ameliorated EILO symptoms; however, patients indicated that delayed diagnosis allowed negative effects to intensify prior to treatment.

Dermatofibrosarcoma of Darrier and Ferrand: Recurrency Character: A Case-Report (Experience of the University Hospital Tangier-Tetouan-Al Hoceima)

Introduction: Dermatofibrosarcoma of Darier and Ferrand (DFSP) is a rare skin tumor characterized by its local aggressiveness and high potential. Its prognosis depends essentially on the quality of its management. Observation and Results: In this article, we report the case of a young patient treated at the Department of Plastic, Reconstructive and Aesthetic Surgery, Tangier, for a Darier and Ferrand dermatofibrosarcoma that recurred five times after surgical excision, with a 5-cm margin on the surface and a healthy anatomical barrier at depth. Coverage of the loss of substance (LOS) was performed after anatomopathological confirmation of the carcinological nature of the excision, and essentially involved skin grafting. Despite a course of radiotherapy prescribed at the 4th recurrence, a 5th rapid recurrence was noted. Discussion: The great clinical, histological and evolutionary polymorphism of this type of sarcoma results in an underestimated incidence and explains the delay in diagnosis. Recurrences are frequent, and usually local. Initial wide surgical excision is the reference treatment, and directly conditions the prognosis of DFSP. According to several studies, recurrence may depend on the quality of surgical excision, but could also be attributed to genetic or environmental factors, or to variations in the histological subtype of the sarcoma. Conclusion: Darier Ferrand is an uncommon tumor with local malignancy, whose evolutionary risk depends mainly on the quality of the initial excision. The chances of cure in the case of well performed primary surgery are significantly higher than in the case of salvage surgery. Tumor excision must the refore be wide and deep, with sacrifice of a healthy barrier at depth.

Features of nutritional support for dysphagia. The role of a speech therapist

Neurogenic oropharyngeal dysphagia remains a widespread complication of neurological diseases. Its prevalence in stroke patients reaches 50%, among patients with multiple sclerosis — 44%, with amyotrophic lateral sclerosis — 60%, after brain injury — 50%, with Parkinson’s disease — 84%. Neurogenic oropharyngeal dysphagia can lead to a decrease in food intake, development of malnutrition and dehydration, and can also be complicated by the development of aspiration pneumonia, followed by death. Currently, the detection of dysphagia in hospitalized patients is often carried out late or outside the algorithm, which significantly increases the risk of nutritional deficiency, decreased quality of life, and other complications when eating. A clinical study of the swallowing function at the earliest possible time of hospitalization avoids delays in diagnosis and timely determines the feeding tactics of a patient with neurogenic dysphagia. The assessment of the swallowing function should be carried out in the first hours of the patient’s hospitalization, and the main conclusion to be drawn from the results of a clinical study of the swallowing function is whether the patient can receive food through the mouth to satisfy nutritional needs. Despite the urgency of the problem of the development of nutritional deficiency in patients with dysphagia, there are few specific recommendations in the Russian literature on the stages of diagnosis, medical rehabilitation and nutritional support for this category of patients. This review is devoted to the analysis of the need for correct diagnosis and rehabilitation of patients with dysphagia and the impact of dysphagia on the quality of life and nutritional status of the patients.

Impact of misdiagnosis on the treatment and prognosis of acute aortic syndrome

Abstract Funding Acknowledgements None. Introduction Acute aortic syndrome (AAS) embraces a spectrum of pathologies with relatively low prevalence but associated with high mortality. The clinical presentation of AAS is highly variable and the differential diagnosis with other much more common diseases such as myocardial infarction (AMI) or pulmonary embolism (PE) is often difficult to achieve. AAS detection requires a high index of suspicion and the delay in diagnosis is associated with increased morbidity and mortality. Purpose The aim of this study is to characterize the diagnostic approach to AAS patients in the emergency department (ED) and to study the impact of the initial diagnostic suspicion on the treatment and prognosis of patients with AAS. Methods The "Aorta Code" is an inter-hospital and interdisciplinary care protocol for the management of patients with AAS in a 4-Hospital network. Patients with AAS were prospectively and consecutively collected from 2019 to 2022. The sample was classified into two groups according to whether the initial suspicion was AAA or another clinical entity. The diagnosis of AAS was established by computed tomography in all patients. Time, clinical, treatment and prognostic variables were analyzed. Results A total of 113 patients with AAS were included. Of them, only 38% (34) were initially suspected of having an AAS (Figure). AMI and PE were the initial diagnosis in 34% of patients (Figure). There were no significant differences in age, history of hypertension or other cardiovascular risk factors between the groups (table). Anterior chest pain was more frequent in the "AAS-suspicion" group. The diagnostic time delay was longer in patients with initial misdiagnosis (table). Patients with type A AAS with initial misdiagnosis underwent surgery in a lower proportion (table). Although the differences were not significant, patients with initial misdiagnosis had more postoperative complications and higher mortality. Conclusion It is essential to maintain a high index of diagnostic suspicion for AAS in the ED. Initial misdiagnosis is associated with a delayed diagnosis, delayed surgical treatment and a lower rate of surgery. In addition, although it is a small sample size, this group of patients had more postoperative complications and higher mortality.

Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China

ObjectiveTo study the current status of hemophilia B (HB) patients in the central and western regions of China.MethodsThis cross-sectional, multicenter study was conducted in seven provinces in the central and western regions of China from April 2019 to June 2023. Samples were collected for the factor IX activity, inhibitor screen, and gene mutation. Furthermore, the status of six index joints and quality of life (QoL) were assessed.ResultsA total of 185 HB patients (mild 15, moderate 75, and severe 95) with a median age of 12.17 years were enrolled. 30.3% (56/185) of patients had a family history of HB. 34.6% (64/185) of HB patients had diagnostic delay and 38.5% (69/179) experienced treatment delay. The incidence of inhibitors was 6.1% (11/179). We identified 123 genetic variants in this study, with missense mutations being the most common. 84.0% (89/106) of HB mothers were genetically identified as carriers, with 27.7% (13/47) of carriers having clotting factor levels less than 0.40 IU/ml. 71.4% (132/185) of HB patients had a history of joint hemorrhage, with a rate of target joint in these patients was 64.4% (85/132). Lower extremity joints were most often affected in patients. The Hemophilia Joint Health Score (HJHS) score was significantly positively correlated with the Hemophilia Early Arthropathy Detection with Ultrasound in China (HEAD-US-C) (r = 0.542, P &amp;lt; 0.001). Patients who received prevention treatment, inhibitor negative, without treatment delay, and without high-intensity replacement therapy showed a higher total score of the short form-36 health survey (SF-36).ConclusionsOne-third of HB patients had delay in diagnosis and treatment, and the incidence of inhibitors was 6.1%. Target joints were present in nearly half of HB patients. Missense was the main mutation type. 84.0% of mothers of HB patients in this study were found to be carriers. HEAD-US-C and HJHS can complement each other in the evaluation of joint status and give a valid basis for early clinical management. Early detection and preventive treatment, as well as reducing high-intensity replacement therapy and inhibitor generation, can effectively improve the QoL of patients.

Charcot Foot: An Update on Diagnosis, Treatment, and Areas of Uncertainty.

Charcot neuroosteoarthropathy (CN) is considered a rare complication of diabetic neuropathy. Due to its insidious mode of presentation, CN may be difficult to diagnose timely and a high index of suspicion is required from both, the diabetic patient (especially those with neuropathy) and their physicians for the early diagnosis and treatment to prevent major complications. We planned a narrative review and searched MEDLINE database to identify evidence regarding CN incidence, treatment options, and recent guidelines. As practitioners do not commonly treat CN, a characteristic clinical case is also presented. The available evidence for diagnosis and treatment remains of low quality. On the one hand, there is an urgent need for action to increase awareness of the disease in both practitioners and people with diabetes. On the other hand, prospective nationwide registries of patients with diabetic neuropathy will help clarify the prognostic factors that may predispose to this complication, and more randomized clinical trials are needed to identify whether medical treatment may improve CN outcomes. For the time being, offloading of the foot to stop the perpetuation of trauma, and inflammation, and importantly to arrest the progression to a deformed nonfunctional foot is the cornerstone of medical therapy of CN. Multidisciplinary assessment between diabetologists and radiologists is fundamental for prompt diagnosis. To avoid potentially deleterious delays in diagnosis and treatment, every physician should bear in mind that every patient with diabetic neuropathy presenting with a warm swollen foot should be treated as having CN until proven otherwise.

CLINICAL PROFILE OF PATIENTS WITH MUSCULOSKELETAL TUBERCULOSIS VISITING A TERTIARY CARE CENTRE IN INDIA

Background: Musculoskeletal tuberculosis a major cause of mortality and morbidity in India and other developing countries. Musculoskeletal TB comprises around 10 to 30% of all EPTB cases. Even though skeletal tuberculosis is an important debilitating disease, the literature in statistical data regarding the socio-demographic distribution and clinical presentation of disease is very scarce. Objective: To study the socio- demographic and clinical profile of musculoskeletal tuberculosis patients reaching the Orthopaedics Department in a tertiary care hospital in India. Methodology: 186 patients with musculoskeletal tuberculosis who have completed treatment were called for a follow up and data regarding demographic, person and illness related factors affecting disease were collected and were tabulated and represented in various charts and diagrams, and analysed. Results: Almost equal sex distribution was seen. Maximum proportion (26%) of the patients were belonging to 40-49 age group, with a mean age of 49.6 years. Patients with age &lt;40 had less incidence compared to middle aged and elderly patients. Maximum number of patients were belonging to upper lower class (102 out of 186). Spine was the commonest site involved among the 138 cases. Spinal involvement was predominant in dorso- lumbar junction followed by thoracic spine and lumbar spine. 100% patients had pain as the presenting complaint and other complaints were not consistent. Only 16% of the patients had history of pulmonary tuberculosis and history of contact with tuberculosis case was present in 25% cases. 28% cases were diabetic and other comorbidities were less frequent. 19% of the cases had multi drug resistance. Conclusion: It was seen that Musculoskeletal tuberculosis is most frequently seen in middle age with majority of spine affected cases. The study reinforces the acquaintance of tuberculosis with low socioeconomic status and to some extend the debilitating diseases. It often has an atypical presentation leading to delay in diagnosis.

A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece

Predominantly antibody deficiencies (PAD) represent the most common type of primary immunodeficiencies in humans, characterized by a wide variation in disease onset, clinical manifestations, and outcome. Considering that the prevalence of PAD in Greece is unknown, and there is limited knowledge on the clinical and laboratory characteristics of affected patients, we conducted a nationwide study including 153 patients (male/female: 66/87; median age: 43.0 years; range: 7.0–77.0) diagnosed, and followed-up between August 1979 to September 2023. Furthermore, we classified our cohort into five groups according to their medical history, immunoglobulin levels, and CTLA4-mutational status: 123 had common variable immunodeficiency (CVID), 12 patients with “secondary” hypogammaglobulinemia due to a previous B-cell depletion immunotherapy for autoimmune or malignant disease several years ago (median: 9 years, range 6–14) displaying a typical CVID phenotype, 7 with combined IgA and IgG subclass deficiencies, 5 patients with CVID-like disease due to CTLA4-mediated immune dysregulation syndrome, and 6 patients with unclassified hypogammaglobulinemia. We demonstrated a remarkable delay in PAD diagnosis, several years after the onset of related symptoms (median: 9.0 years, range: 0–43.0). A family history of PAD was only present in 11.8%, with the majority of patients considered sporadic cases. Most patients were diagnosed in the context of a diagnostic work-up for recurrent infections, or recurrent/resistant autoimmune cytopenias. Interestingly, 10 patients (5.6%) had no history of infection, diagnosed due to either recurrent/resistant autoimmunity, or during a work-up of their medical/family history. Remarkable findings included an increased prevalence of lymphoproliferation (60.1%), while 39 patients (25.5%) developed bronchiectasis, and 16 (10.5%) granulomatous disease. Cancer was a common complication in our cohort (25 patients, 16.3%), with B-cell malignancies representing the most common neoplasms (56.7%). Our findings indicate the necessity of awareness about PAD and their complications, aiming for early diagnosis and the appropriate management of affected patients.

Bile Acid Diarrhea is Associated with an Increased Incidence of Gastrointestinal Cancers.

Bile acid diarrhea (BAD) is an underrecognized and socially debilitating disease caused by high concentrations of bile acids in the colon. Bile acids directly and indirectly promote carcinogenesis. Here, we investigated if individuals with BAD have an increased risk of gastrointestinal (GI) cancers. By using the Danish health registries, adult individuals with BAD were identified by international classification of disease 10th revision (ICD10) code K90.8 or referral to the diagnostic ⁷⁵selenium-homotaurocholic acid test followed by prescription of a bile acid sequestrant within 365 days (n=5,245). Age and sex-matched individuals without BAD were included for comparison (n=52,450). We analyzed the cumulative incidence of GI cancers after BAD diagnosis and the odds ratios (ORs) of GI cancer eight and 15 years before BAD diagnosis/matching. Cumulative incidence of GI cancer six years after BAD diagnosis/matching was 1.6% in the BAD group and 1.1% in controls (p=0.01). The ORs of total GI cancer eight and 15 years before BAD diagnosis were 6.16 (5.08-7.48) and 5.19 (4.28-6.29), respectively. Furthermore, 47 individuals with BAD (0.9%) and 250 (0.5%) controls died of GI cancer. This nationwide cohort study indicates an association between BAD and GI cancers. We found both a higher incidence of GI cancer after BAD diagnosis compared with controls and increased OR of GI cancer before BAD diagnosis. Bearing in mind the underdiagnosis of BAD, the delay of BAD diagnosis, and the carcinogenic effect of bile acids, these findings warrant further investigations of the risk of GI cancer in individuals with BAD.

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.

An Artificial Intelligence Driven Approach for Classification of Ophthalmic Images using Convolutional Neural Network: An Experimental Study.

Early disease detection is emphasized within ophthalmology now more than ever, and as a result, clinicians and innovators turn to deep learning to expedite accurate diagnosis and mitigate treatment delay. Efforts concentrate on the creation of deep learning systems that analyze clinical image data to detect disease-specific features with maximum sensitivity. Moreover, these systems hold promise of early accurate diagnosis and treatment of patients with common progressive diseases. DenseNet, ResNet, and VGG-16 are among a few of the deep learning Convolutional Neural Network (CNN) algorithms that have been introduced and are being investigated for potential application within ophthalmology. In this study, the authors sought to create and evaluate a novel ensembled deep learning CNN model that analyzes a dataset of shuffled retinal color fundus images (RCFIs) from eyes with various ocular disease features (cataract, glaucoma, diabetic retinopathy). Our aim was to determine (1) the relative performance of our finalized model in classifying RCFIs according to disease and (2) the diagnostic potential of the finalized model to serve as a screening test for specific diseases (cataract, glaucoma, diabetic retinopathy) upon presentation of RCFIs with diverse disease manifestations. We found adding convolutional layers to an existing VGG-16 model, which was named as a proposed model in this article that, resulted in significantly increased performance with 98% accuracy (p<0.05), including good diagnostic potential for binary disease detection in cataract, glaucoma, diabetic retinopathy. The proposed model was found to be suitable and accurate for a decision support system in Ophthalmology Clinical Framework.

Diagnostic Strategy Using Color Doppler Ultrasound of Temporal Arteries in Patients With High Clinical Suspicion of Giant Cell Arteritis : A Prospective Cohort Study.

Giant cell arteritis (GCA) is the most prevalent systemic vasculitis in people older than 50 years. Any delay in diagnosis impairs patients' quality of life and can lead to permanent damage, particularly vision loss. To evaluate a diagnostic strategy for GCA using color Doppler ultrasound of the temporal artery as a first-line diagnostic test, temporal artery biopsy (TAB) as a secondary test, and physician expertise as the reference method. Prospective multicenter study with a 2-year follow-up. (ClinicalTrials.gov: NCT02703922). Patients were referred by their general practitioner or ophthalmologist to a physician with extensive experience in GCA diagnosis and management in one of the participating centers: 4 general and 2 university hospitals. 165 patients with high clinical suspicion of GCA, aged 79 years (IQR, 73 to 85 years). The diagnostic procedure was ultrasound, performed less than 7 days after initiation of corticosteroid therapy. Only ultrasound-negative patients underwent TAB. Bilateral temporal halo signs seen on ultrasound were considered positive. Ultrasound and TAB results were compared with physician-diagnosed GCA based on clinical findings and other imaging. Diagnosis of GCA was confirmed in 44%, 17%, and 21% of patients by ultrasound, TAB, and clinical expertise and/or other imaging tests, respectively. Their diagnosis remained unchanged at 1 month, and 2 years for those with available follow-up data. An alternative diagnosis was made in 18% of patients. The proportion of ultrasound-positive patients among patients with a clinical GCA diagnosis was 54% (95% CI, 45% to 62%). Small sample size, no blinding of ultrasound and TAB results, lack of an objective gold-standard comparator, and single diagnostic strategy. By using ultrasound of the temporal arteries as a first-line diagnostic tool in patients with high clinical suspicion of GCA, further diagnostic tests for patients with positive ultrasound were avoided. Tender "Recherche CH-CHU Poitou-Charentes 2014."

Access to early diagnosis for attention-deficit/hyperactivity disorder among children and adolescents in Mexico City at specialized mental health services

BackgroundIn Mexico, this pioneering research was undertaken to assess the accessibility of timely diagnosis of Dyads [Children and adolescents with Attention Deficit Hyperactivity Disorder (ADHD) and their primary caregivers] at specialized mental health services. The study was conducted in two phases. The first phase involved designing an “Access Pathway” aimed to identify barriers and facilitators for ADHD diagnosis; several barriers, with only the teacher being identified as a facilitator. In the second phase, the study aimed to determine the time taken for dyads, to obtain a timely diagnosis at each stage of the Access Pathway. As well as identify any disparities based on gender and socioeconomic factors that might affect the age at which children can access a timely diagnosis.MethodIn a retrospective cohort study, 177 dyads participated. To collect data, the Acceda Survey was used, based on the robust Conceptual Model Levesque, 2013. The survey consisted of 48 questions that were both dichotomous and polytomous allowing the creation of an Access Pathway that included five stages: the age of perception, the age of search, the age of first contact with a mental health professional, the age of arrival at the host hospital, and the age of diagnosis. The data was meticulously analyzed using a comprehensive descriptive approach and a nonparametric multivariate approach by sex, followed by post-hoc Mann-Whitney’s U tests. Demographic factors were evaluated using univariable and multivariable Cox regression analyses.Results71% of dyads experienced a late, significantly late, or highly late diagnosis of ADHD. Girls were detected one year later than boys. Both boys and girls took a year to seek specialized mental health care and an additional year to receive a formal specialized diagnosis. Children with more siblings had longer delays in diagnosis, while caregivers with formal employment were found to help obtain timely diagnoses.ConclusionsOur findings suggest starting the Access Pathway where signs and symptoms of ADHD are detected, particularly at school, to prevent children from suffering consequences. Mental health school-based service models have been successfully tested in other latitudes, making them a viable option to shorten the time to obtain a timely diagnosis.

Musculoskeletal misdiagnoses in pediatric patients with spinal tumors.

Childhood spinal tumors often present with musculoskeletal symptoms, potentially causing a misdiagnosis and delays in diagnosis and treatment. This study aims to identify, characterize, and compare children with spinal tumors who had prior musculoskeletal misdiagnoses to those without, analyzing clinical presentation, diagnostic interval, and outcome. This retrospective cohort study evaluated all children aged 0-14years diagnosed with a spinal tumor in Denmark from 1996 to 2018. The cohort was identified through the Danish Childhood Cancer Registry, and the registry data were supplemented with data from medical records. The survival was compared using the Kaplan-Meier method. Among 58 patients, 57% (33/58) received musculoskeletal misdiagnoses before the spinal tumor diagnosis. Misdiagnoses were mostly nonspecific (64%, 21/33), involving pain and accidental lesions, while 36% (12/33) were rheumatologic diagnoses. The patients with prior misdiagnosis had less aggressive tumors, fewer neurological/general symptoms, and 5.5months median diagnostic interval versus 3months for those without a misdiagnosis. Those with prior misdiagnoses tended to have a higher 5-year survival of 83% (95% confidence interval [CI]: 63%-92%) compared to 66% (95% CI: 44%-82%) for those without (p=.15). Less aggressive spinal tumors may manifest as gradual skeletal abnormalities and musculoskeletal symptoms without neurological/general symptoms, leading to misdiagnoses and delays.

Survival analysis and gender differences in hypertrophic cardiomyopathy proband patients referred for genetic testing

BackgroundHypertrophic cardiomyopathy (HCM) is believed to have low overall mortality rate, that could be influenced by gender, particularly among probands. We aimed to evaluate the survival rates and possible gender differences in a homogeneous cohort of HCM proband patients, referred for genetic testing, from the same geographical area, without differences in medical care access nor clinical referral pathways. Methodswe compared the mortality rates of a cohort of consecutive HCM probands referred for genetic testing (2000−2022), from a Spanish region (xxx1) with a centralized genetic testing pathway, with its control reference population by Ederer II method. Gender differences were analyzed. ResultsAmong the 649 HCM probands included in this study, there were significantly more men than women (61.3% vs 38.7, p < 0.05), with an earlier diagnosis (53.5 vs 61.1 years old, p < 0.05). Clinical evolution or arrhythmogenic HCM profile did no show no significant gender differences. Mean follow up was 9,8 years ±6,6 SD (9,9 ± 7 vs 9,6 ± 6,1, p = 0.59). No statistically significant differences in observed mortality, expected survival and excess mortality were found in the general HCM proband cohort. However, we found a significant excess mortality in female probands with HCM. No additional differences in analysis by genetic status were identified. ConclusionExpected survival in our HCM probands did not differ from its reference population. However, despite no gender differences in phenotype severity were identified, proband HCM women did present a diagnosis delay and worse mortality outcomes.

Identification of relapse predictors of IgG&lt;sub&gt;4&lt;/sub&gt;-related sclerosing cholangitis

Introduction. Relapses occur in 30–50% of patients IgG4-related sclerosing cholangitis. Relapses may act an independent risk factor for malignancy development and the need in maintenance therapy for relapse prevention is still uncertain. Thus, studying relapse predictors and developing reliable preventive approaches is an important area of research for this condition.Aim. To determine relapse predictors of IgG4-related sclerosing cholangitis.Materials and methods. A single- center dynamic bidirectional observational study was conducted in patients aged 18 years and older with verified IgG4-related sclerosing cholangitis (n = 32). We searched for possible factors influencing the relapse of IgG4- related sclerosing cholangitis. The development of a prognostic model for the relapse probability was carried out using logistic regression. ROC analysis was used to assess the diagnostic performance of quantitative variables in predicting of relapse.Results. The median follow-up period was 33 (16–60) months. The majority of patients with IgG4-related sclerosing cholan- gitis were male (71.9%), median age was 59 ± 13 years. In most patients, delayed diagnosis (median 10.5 [4.8; 22.5] months) was associated with overdiagnosis of primary sclerosing cholangitis (41.2%) or bile duct malignancy (43.8%). Surgical interventions were performed in 50% of patients. Median serum IgG4 level was 2.70 g/L [1.92; 6.48], and 21.9% of patients had normal serum IgG4 level. Disease relapse developed in 34.4% (n = 11) of patients. Serum IgG4 level before glucocorticosteroid therapy ≥ 2.24 g/L and a delay in diagnosis by ≥ 17 months were associated with the relapse (p = 0.040 and p = 0.049 respectively). Multi-organ involvement, and extrahepatic localization of biliary strictures in the patients with the history of surgical interventions increased the risk of relapse 85 (p = 0.001) and 12 (p = 0.047) fold, respectively. The presence of biliary strictures below the confluence reduced the risk of relapse 7.5 fold (p = 0.032).Conclusions. Possible predictors of IgG4-related sclerosing cholangitis relapse may include multi- organ involvement, intrahepatic and proximal extrahepatic strictures, prior surgical interventions in patients with extrahepatic strictures, high serum IgG4 level, and delayed diagnosis.