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At least 19 recordsLinked to original sources
PubMed2024

Diagnostic delay in monogenic disease: A scoping review.

PURPOSE: Diagnostic delay in monogenic disease is reportedly common. We conducted a scoping review investigating variability in study design, results, and conclusions. METHODS: We searched the academic literature on January 17, 2023, for original peer reviewed journals and conference articles that quantified diagnostic delay in monogenic disease. We abstracted the reported diagnostic delay, relevant study design features, and definitions. RESULTS: Our search identified 259 articles quantifying diagnostic delay in 111 distinct monogenetic diseases. Median reported diagnostic delay for all studies collectively in monogenetic diseases was 5.0 years (IQR 2-10). There was major variation in the reported delay within individual monogenetic diseases. Shorter delay was associated with disorders of childhood metabolism, immunity, and development. The majority (67.6%) of articles that studied delay reported an improvement with calendar time. Study design and definitions of delay were highly heterogenous. Three gaps were identified: (1) no studies were conducted in the least developed countries, (2) delay has not been studied for the majority of known, or (3) most prevalent genetic diseases. CONCLUSION: Heterogenous study design and definitions of diagnostic delay inhibit comparison across studies. Future efforts should focus on standardizing delay measurements, while expanding the research to low-income countries.

Humans↗
PubMed1975

Diagnostic delay in cancer of the breast.

The occurence of delay in the diagnosis of breast cancer was investigated in 115 women with breast cancer. Earlier breast disease and earlier consultations for breast symptoms were thoroughly inquired about and analysed. The part of "diagnostic delay" referred to "doctor's delay" occurred in one fifth of the breast cancer patients but in one third of the patients under 50 years of age compared to one seventh of the patients over 50 years. The reasons for delay were: incomplete investigation of palpable or suspected breast tumour, non-representativeness of surgical biopsy or of slides taken for histopathological examination, underestimation of atypia at histopathological examination, unsatisfactory follow-up after biopsy of suspected tumour.

Adult↗
PubMed1978

Diagnostic delay in neoplastic disease.

It may be possible to measure quality of care in general practice by selecting a single criterion of care such as the delay in the recognition of neoplastic disease. Seven general practitioners reported on 55 new cases and the results are analysed according to age, sex, and diagnostic category. An attempt is made to quantify ;quality' by comparing the theoretical ;ideal' delay (retrospectively assessed) with the ;actual' delay. The wider implications of the study are discussed.

Adolescent↗
PubMed1978

Diagnostic delay in presenile dementia.

In a retrospective study, patients with presenile dementia and histories of symptoms of depressive illness and of antecedent diagnosis of depressive disorder were found to have significantly longer intervals from initial physician contact to final diagnosis than patients without such histories. Patients with histories of psychiatric treatment prior to final diagnosis also had longer intervals, with differences approaching statistical significance. In contrast, intervals from symptom onset to first physician contact were noted to be shorter for those patients with these antecedent histories. A discussion of these results, a review of the relevant literature and an illustrative case report are presented.

Adjustment Disorders↗
PubMed1978

Diagnostic delay in deafness - the effect of active case finding.

Impaired hearing, sensorineural or conductive, was detected in 464 (25 per cent) of the 1,876 children tested during visits with a mobile hearing clinic in rural northern Ontario. Seven severe to profoundly deaf preschool children were identified; expected prevalence in this population is 5--10 preschoolers. Three older children (7--15 years of age), also, were found to have severe to profound deafness that previously had been undetected. Previously, initial identification of severe sensorineural hearing loss in this age group in these areas was at an average age of 30 months. Since visits by the clinic this is 18 months. Conductive hearing losses that had inhibited learning were identified earlier than the reported average (6.4 years vs 5.3--9.0 years of age). Follow-up has shown more effective management of conductive hearing loss since visits by the clinic. Few rural Ontario communities with populations under 10,000 have adequate surveillance for hearing problems. The goal of The Hospital for Sick Children's Mobile Hearing Clinic is to identify early all children with hearing problems and to speed the introduction of a better program for the recommendation and fitting of hearing aids, including proper counselling in the use of amplification.

Adolescent↗
PubMed1979

Delay in the diagnosis of insulinomas.

The median diagnostic delay in 32 patients with verified insulinomas was 2 3/4 years (range 1/4--18). The median delay in the 1939--1958 period was shorter (2 years, n = 17) than in the 1959--1978 period (3 years, n = 15). Thus, modern developments with insulin estimations were without noticeable effect upon the diagnostic delay. The findings can probably only be explained by a poor awareness of the insulinoma syndrome in the medical profession.

Adenoma, Islet Cell↗
PubMedDate not supplied

[Traumatic ruptures of the diaphragma. Diagnostic and therapeutic problems (author's transl)].

Between 1970 and 1976, 34 cases of traumatic ruptures of the diaphragma were observed and treated at the Surgical Clinic of the University of Würzburg: 23 acute ruptures and 11 delayed diagnostic ruptures. The etiology and mechanism of the rupture are discussed. A predominency of left over right ruptures occured in 90% of cases. In only one case there was an open rupture of the right side. Among associated abdominal lesions, ruptures of the spleen are the most frequent. Among skeletal associated lesions, one observes most frequently, fractures of the ribs. In 4 acute cases, there were no herniated organs. In the 11 patients were diagnosis was delayed we always found herniated viscera. Symptoms and diagnostic means are discussed. Traumatic rupture of the diaphragm is an absolute surgical indication. In acute cases we attempt the repair through a laparotomy; delayed cases should be treated by thoracotomy. Among 23 cases operated in emergency, 3 died because of associated lesions. Operative mortality was zero in the 11 patients with delayed diagnosis.

Abdominal Injuries↗
PubMed1978

Radiology in early slipped femoral capital epiphysis.

In a study of 38 hips showing only minor abnormality on the AP radiograph, it was found that the most reliable sign of an early slip was blurring of the junction between the metaphysis and the growth plate. The diagnosis could not be made on the AP film alone in 11% of cases and it is recommended that a routine lateral radiograph is obtained when slipped epiphysis is a clinical possibility. The importance of the radiologist in the early diagnosis of the condition is stressed and the causes of diagnostic delay are considered.

Adolescent↗
PubMed1976

Diagnostic problems in suppurative lung disease.

Eleven of 48 (23%) patients diagnosed as having lung abscess or empyema presented diagnostic problems in the localization of infected material. All 11 patients were found eventually to have empyemas, all but one of which was complicated by bronchopleural fistulas. Difficulty in distinguishing abscess from empyema on a chest roentgenogram delayed diagnostic and therapeutic thoracentesis from 1 to 12 days. Pleural effusions were noted in all but one of the patients who did not initially have a bronchopleural fistula. In addition, once the bronchopleural fistula became established, the extension of the air-fluid level to the chest wall, the tapered borders of the air-fluid pocket, and the extension of the lesion across fissure lines were noted, in retrospect, to be suggestive of pleural localization. Delay in the evacuation of empyema fluid can lead to chronic complications and increased morbidity. Early identification and treatment of pleural effusions may avoid these diagnostic and therapeutic problems.

Adolescent↗
PubMed2026

Guidelines for Genetic Testing of Peripheral Nerve Disorders.

Inherited peripheral neuropathies (IPNs) comprise a clinically and genetically heterogeneous group of disorders affecting approximately 1 in 2500 individuals and represent one of the most common inherited neurologic diseases. The rapidly expanding identification of disease-causing genes and the widespread implementation of next-generation sequencing (NGS) have fundamentally transformed the diagnostic evaluation of these disorders. Contemporary molecular testing has substantially increased diagnostic yield, shortened the diagnostic delay, refined disease classification, and strengthened genotype-phenotype correlations. In the United States, NGS-based multigene panels have become the most cost-effective first-line molecular diagnostic approach for most patients with suspected inherited neuropathies, whereas phenotype-directed single-gene testing remains appropriate in selected clinical circumstances and in healthcare systems in which access to comprehensive sequencing is limited. Despite these advances, challenges continue to affect diagnostic accuracy, including interpretation of variants of uncertain significance, detection of copy number variants and repeat expansions, technical limitations associated with highly homologous genomic regions such as SORD, and variability in gene content and analytic performance among commercially available testing platforms. Accurate diagnosis therefore requires integration of clinical phenotype, electrodiagnostic findings, family history, and molecular data. Establishing a precise genetic diagnosis has become increasingly important because it improves prognostic accuracy, guides genetic counseling and cascade testing, identifies patients with treatable hereditary neuropathies such as transthyretin amyloidosis, and facilitates enrollment in gene-specific clinical trials and emerging precision therapies. An evidence-based, phenotype-driven approach that incorporates contemporary molecular technologies is essential to maximize diagnostic efficiency while recognizing the strengths and limitations of currently available genetic testing strategies.

Charcot–Marie–tooth disease↗
PubMed1979

Identification of impaired hearing in early childhood.

Although the incidence of congenital deafness is high, routine neonatal screening for this problem is not practised, and early identification of congenital or early acquired deafness is relatively rare. Delaying therapy until a child is 3 or more years old severely limits speech development, language acquisition and learning. The commonest causes of delay in diagnosis are the refusal of physicians to listen to the parents' observations, their failure to screen children for hearing and speech problems, and their reluctance to arrange prompt referral for audiologic assessment. Diagnostic delay occurs even though half the children who have impaired hearing are known to be at increased risk. A plea is made for the setting up of a register of infants known to be at risk for impaired hearing. First-contact physicians should be alert to the possibility of hearing problems, particularly in children at high risk. Screening methods for use by nonspecialist practitioners are outlined.

Age Factors↗
PubMed2026

Re-emerging Marburg virus disease in Africa: spillover ecology, geographic expansion, and surveillance vulnerabilities.

Marburg virus disease (MVD) is re-emerging across Africa as a high-consequence zoonosis shaped by expanding ecological suitability, repeated spillover, and uneven surveillance capacity. This review synthesizes current evidence on the ecological, epidemiological, and operational determinants of contemporary Marburg virus (MARV) emergence. We conceptualize MVD as an ecological-emergence system produced by interactions among reservoir-host biology, environmental change, human exposure, health-system readiness, and mobility, rather than as a series of isolated outbreaks. Recent detections in multiple African regions indicate wider enzootic circulation than previously recognized and support repeated, reservoir-associated introductions from distributed ecological foci. Spillover risk is heightened where mining, land-use change, agricultural encroachment, settlement growth, climate-sensitive habitat disruption, and population movement increase contact with Egyptian rousette bats (Rousettus aegyptiacus) and contaminated roost environments. Following primary spillover, diagnostic delays, fragmented surveillance, limited laboratory decentralization, healthcare-associated transmission, and mobility-linked exposure can enable outbreak amplification and delayed recognition. Serological findings further suggest possible "shadow epidemiology," with unrecognized or mild MARV infections occurring outside confirmed outbreak chains. Critical preparedness gaps persist in ecological risk mapping, longitudinal reservoir surveillance, decentralized molecular diagnostics, genomic sequencing, data integration, and cross-border early warning. Future preparedness should move beyond reactive containment toward integrated One Health approach combining predictive ecological surveillance, rapid community-level detection, real-time genomics, infection prevention, risk communication, and regional coordination to identify spillover early and prevent human transmission.

Animals↗
PubMed1976

[Experiences with computer-assisted x-ray diagnosis of pulmonary coin lesions (author's transl)].

Favourable results of the computer-aided diagnosis of peripheral bronchial carcinoma lead to a simplified scheme for calculation fo diagnosis, basing upon X-ray symptoms. This scheme was tested in the Zentralinstitut für Krebsforschung (ZIK) in 102 pateints and in the Forschungsinstitut für Lungenkrankheiten und Tuberkulose (FLT) in 101 patients. These patients had coin lesions of the lung with unknown diagnoses. The histological diagnoses later proved were compared with the calculated diagnoses. In ZIK there were correct diagnosis in 92.16% (in 96.53% of the carcinomas, in 44.4% of the tuberculomas and in all benign tumors), while in FLT 85.53% of the coin lesions were correctly classified (89.13% of carcinomas, 79.31% of the tuberculomas and all benign tumors). The comparison with the clinical-histological diagnoses showed a clear improvement of the accuracy by the calculated diagnoses. The method can be recommended for the basic diagnosis especially of peripheral bronchial carcinoma. It implies a reduction of the diagnostic delay, but it can not substitute the histologic investigation of the lesions.

Adult↗
PubMed2026

AI echo INSIGHT study: A prospective blinded randomized trial of artificial intelligence echocardiogram interpretation.

BACKGROUND: Transthoracic echocardiography (TTE) is the most commonly performed cardiac imaging modality with over 30 million studies annually. Demand for timely expert interpretation continues to outpace capacity, creating diagnostic delays and inter-observer variability that impact patient care. Recent research has suggested computer vision artificial intelligence (AI) models can generate accurate preliminary comprehensive TTE reports, however, prospective evaluation is needed to determine whether AI-assisted TTE interpretation can improve clinician efficiency while preserving diagnostic accuracy. METHODS: AI ECHO INSIGHT is a prospective randomized blinded clinical trial conducted at Kaiser Permanente Northern California that will evaluate 1200 historical TTE studies (1000 consecutive unselected studies plus 200 with moderate or greater valvular disease) interpreted using three workflows: (1) AI-generated preliminary report finalized by a blinded cardiologist (AI-assisted); (2) cardiologist-generated preliminary report finalized by a blinded cardiologist (cardiologist-assisted); and (3) sonographer-generated preliminary report finalized by a blinded cardiologist (sonographer-assisted). The primary outcome is the rate of substantial change between preliminary and final reports, comparing the AI-assisted workflow to the pooled cardiologist-assisted and sonographer-assisted workflows. Secondary outcomes include cardiologist interpretation time for report finalization, superiority testing for diagnostic accuracy, and reporting consistency. CONCLUSION: AI ECHO INSIGHT is a prospective randomized blinded clinical trial evaluating the clinical impact of AI-assisted TTE interpretation on diagnostic accuracy, cardiologist efficiency, and reporting consistency in real-world echocardiography workflows. TRIAL REGISTRATION: ClinicalTrials.gov registration number NCT07229300.

Humans↗
PubMed2025

Antifungal treatment strategies and their impact on resistance development in clinical settings.

Invasive fungal diseases, particularly among immunocompromised patients, represent a growing clinical challenge due to limited therapeutic options, diagnostic delays and escalating antifungal resistance. Fungal pathogens employ diverse resistance mechanisms, including genetic mutations of antifungal target enzymes, biofilm formation, efflux pump overexpression and reduced drug penetration, which compromise the efficacy of clinically available antifungal classes. This review explores antifungal treatment modalities and evaluates approaches to mitigate resistance development. Advanced diagnostics and therapeutic drug monitoring are pivotal for enabling timely, targeted therapies and personalizing treatment plans, thus minimizing reliance on broad-spectrum agents. New antifungal agents, such as rezafungin, olorofim and fosmanogepix, along with long-acting and advanced formulations plus combination regimens, show substantial promise for managing resistance and improving treatment outcomes. Additionally, the development of immunotherapies and antifungal vaccines offers new avenues for bolstering host defences against fungal pathogens. Addressing antifungal resistance demands a multifaceted 'One Health' approach that integrates robust diagnostics, antifungal stewardship (AFS), precision medicine and collaborative global efforts. By advancing drug formulations, enhancing diagnostic tools and implementing forward-thinking AFS practices, the healthcare community can better tackle the escalating burden of fungal infections and deliver improved patient outcomes.

Antifungal Agents↗