scholarly journals Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

2021 ◽  
Vol 12 ◽  
Author(s):  
Catarina Falcão de Campos ◽  
Marta Gromicho ◽  
Hilmi Uysal ◽  
Julian Grosskreutz ◽  
Magdalena Kuzma-Kozakiewicz ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Treatment Options ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Educational Interventions ◽  
Sociocultural Factors ◽  
Diagnostic Pathway ◽  
Tertiary Center ◽  
Modifiable Factor ◽  
Als Patients

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with unsatisfactory treatment options. Best management and recruitment into clinical trials requires early diagnosis. However, diagnosis is often delayed. Analysis of the diagnostic pathway and identification of the causes of diagnostic delay are imperative.Methods: We studied a cohort of 580 ALS patients followed up in our ALS clinic in Lisbon. Demographic, disease, and sociocultural factors were collected. Time from first symptom onset to diagnosis, the specialist's assessment, and investigations requested were analyzed. Predictors of diagnostic delay were evaluated by multivariate linear regression, adjusting for potential confounders.Results: The median diagnostic delay from first symptom onset was 10 months. Spinal-onset, slower disease progression, cognitive symptoms at onset, and lower income were associated with increased diagnostic delay. Most patients were first assessed by general practitioners. Patients who were first evaluated by a neurologist were more likely to be correctly diagnosed, decreasing time to diagnosis. Electromyography was decisive in establishing the diagnosis.Conclusions: Late referral from non-neurologists to a neurologist is a potentially modifiable factor contributing to significant diagnostic delay. Educational interventions targeted to non-neurologists physicians, in order to increase awareness of ALS and, consequently, promote early referral to a neurologist at a tertiary center, will be important in reducing diagnostic delay.

scholarly journals Patient and primary care delays in the diagnostic pathway of gynaecological cancers: a systematic review of influencing factors

2019 ◽  
Vol 69 (679) ◽  
pp. e106-e111 ◽  
Author(s):  
Pauline Williams ◽  
Peter Murchie ◽  
Christine Bond
Keyword(s):  
Systematic Review ◽  
Primary Care ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Gynaecological Cancer ◽  
Current Evidence ◽  
Cochrane Library ◽  
Cancer Type ◽  
Patient Demographics ◽  
Diagnostic Pathway

BackgroundGynaecological cancers are the second most common female cancer type, with survival rates in the UK lower than in many comparable countries. A potentially important factor in the UK’s poorer cancer outcomes is diagnostic delay; gynaecological cancers are the cancer type most likely to be affected by less timely diagnosis.AimTo examine current evidence for factors that contribute to patient and primary care delays in the diagnostic pathway of gynaecological cancer.Design and settingA systematic review of the available literature.MethodPRISMA guidelines were followed. MEDLINE and Embase databases and the Cochrane Library were searched using three terms: primary care; gynaecological cancer; and delay. Citation lists of all identified articles were searched. Two authors independently screened the titles, abstracts, and full texts of publications. Data extraction was performed by one author and quality assured by a second reviewer in a 20% sample of selected articles. Synthesis was narrative.ResultsA total of 1253 references was identified, of which 37 met the inclusion criteria. Factors associated with delayed diagnosis were categorised as either patient factors (patient demographics, symptoms or knowledge, and presentation to the GP) or primary care factors (doctor factors: patient demographics, symptoms or knowledge, and referral process); and system factors (such as limited access to investigations).ConclusionDelayed diagnosis in the patient and primary care intervals of the diagnostic journey of gynaecological cancer is complex and multifactorial. This review identifies areas of future research that could lead to interventions to enable prompter diagnosis of gynaecological cancers.

scholarly journals P194 Non-bacterial osteitis syndromes: characterising an adult population

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Tiara Gill ◽  
Judith Bubbear ◽  
Richard Keen
Keyword(s):  
Retrospective Analysis ◽  
Symptom Onset ◽  
Adult Population ◽  
Interleukin 1 ◽  
Treatment Options ◽  
Diagnostic Delay ◽  
Joint Involvement ◽  
Metabolic Bone ◽  
Disease Registries ◽  
Mean Time

Abstract Background Inflammatory bone syndromes, such as SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) and CRMO (chronic recurrent multifical osteomyelitis) are rare and have not been extensively described in the existing literature. Although there have been proposed classification and diagnostic criteria, there is still limited consensus and uniformity of approach in identifying and treating these patients. This may be due to a lack of data and understanding about the nature and prognosis of these conditions. Attempts to characterise, especially in adult populations, has been limited thus far. As a tertiary metabolic bone service with an allied regional sarcoma service, we present further data on these conditions in an adult population. Methods Retrospective analysis of notes of patients, with a diagnosis of SAPHO and CRMO, that were registered on a departmental database was performed. Data on demographics, symptom onset and character, serum and radiological tests and treatment were analysed. Results 77 adults were identified with a diagnosis of SAPHO and CRMO, with a 60:40 % split respectively. Female preponderance was noted with 74% of this cohort represented. SAPHO patients tended to present slightly later with a mean age of symptom onset of 37 years as compared to 24 years in the CRMO group. Diagnostic delay was evident with mean time to diagnosis averaging 34 months. Pain and bony swelling were the most common symptoms (99% and 39% respectively), with the clavicle, sternum and spine being the most common sites involved. Osteitis was a universal feature in both groups, whereas skin and inflammatory joint involvement was more of a feature of SAPHO patients (59% vs 39%). There is limited consensus on appropriate diagnostic tests. This was reflected in this cohort with variable testing of inflammatory markers, serological testing of HLA B27 and extent and modality of imaging. Non-steroidal anti-inflammatories (NSAIDS), intravenous bisphosphonates, steroids and anti-microbials were all employed as treatment options, although efficacy was difficult to establish in this retrospective analysis, a significant source of referrals were from the local Sarcoma Unit; this may have introduced a degree of bias in our results. Conclusion As rare conditions, promoting awareness, having an index of suspicion and early referral to specialist centres would help address current issues faced by this patient population. Several national and international disease registries are in development and will undoubtly help to standardise data collection in order to guide further work in this area. Future studies examining treatment efficacy in current as well as emerging biological therapies, such as anti-tumour necrosis factor, anti- interleukin 1 and 17 agents, would be of significant value. Disclosures T. Gill None. J. Bubbear None. R. Keen None.

scholarly journals Diagnostic odyssey of acute disseminated encephalomyelitis in children

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yoko Takahashi ◽  
Itaru Hayakawa ◽  
Yuichi Abe
Keyword(s):  
Risk Factors ◽  
Symptom Onset ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Acute Disseminated Encephalomyelitis ◽  
Clinical Risk Factors ◽  
Neurological Deficits ◽  
Medical Visit ◽  
Diagnostic Odyssey ◽  
Clinical Risk

AbstractWe aimed to determine whether acute disseminated encephalomyelitis (ADEM) diagnosis in children is delayed, and if so, to identify the clinical risk factors of delayed diagnosis. Standardised data were collected from children with ADEM from 2003 to 2020. Overall diagnostic delay (time between symptom onset and ADEM diagnosis), physicians’ delay (between the first medical visit and ADEM diagnosis), and patients’ delay (between symptom onset and the first medical visit) were analysed. Thirty ADEM patients were identified, including 16 (54%) with neurological deficits at discharge. Overall, physicians’, and patients’ delays were 9 (interquartile range [IQR] 6–20.5), 5.5 (IQR 3–14), and 4 (IQR 2–8) days, respectively. Overall delay was significantly associated with physicians’ delay, but not with patients’ delay. There were 61 misdiagnoses among 25 (83%) patients, while 5 (17%) were diagnosed correctly at the first visit. The misdiagnoses of common respiratory and gastrointestinal infection and aseptic meningitis were associated with overall and/or physicians’ delay. Later onset of specific neurological features suggestive of ADEM was associated with all three diagnostic delays. A unique diagnostic odyssey exists in ADEM. Several clinical risk factors were associated with the diagnostic delay.

Disease Profile and Oncologic Outcomes After Delayed Diagnosis of Human Papillomavirus–Associated Oropharyngeal Cancer

2021 ◽  
pp. 019459982110004
Author(s):  
Linda X. Yin ◽  
Emily E. Karp ◽  
Anna Elias ◽  
Thomas J. O’Byrne ◽  
David M. Routman ◽  
...  
Keyword(s):  
Overall Survival ◽  
Human Papillomavirus ◽  
Symptom Onset ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Progression Free Survival ◽  
Distant Metastases ◽  
Oncologic Outcomes ◽  
Cancer Specific Survival ◽  
Free Survival

Objective Diagnostic delay in human papillomavirus–associated oropharynx squamous cell carcinoma (HPV(+)OPSCC) is common due to nonspecific symptoms. We aim to describe the disease burden and oncologic outcomes of patients with HPV(+)OPSCC diagnosed >12 months after symptom onset. Study Design This is a retrospective cohort study of HPV(+)OPSCC patients receiving intent-to-cure treatment (including surgery ± adjuvant therapy or primary chemoradiation). Setting 2006-2016, tertiary care center. Methods Tumor stage was compared between patients with and without delayed diagnosis using χ2 tests. Kaplan-Meier survival analysis with univariate and multivariable Cox regressions were used to determine the effect of diagnostic delay on oncologic outcomes. Results In total, 664 patients were included. Compared to patients diagnosed <12 months from symptom onset (n = 601), those diagnosed at >12 months (n = 63) were more likely to have T4 disease and higher overall American Joint Committee on Cancer (AJCC) clinical stage at presentation ( P < .01 for both). At 5 years, rates of overall survival, cancer-specific survival, progression-free survival, and distant metastases–free survival in the delayed diagnosis cohort were 80%, 90%, 80%, and 89%, respectively. A >12-month delay in diagnosis did not significantly impact overall survival (adjusted hazard ratio [aHR], 1.16; 95% CI, 0.58-2.31), cancer-specific survival (aHR, 0.83; 95% CI, 0.29-2.39), progression-free survival (aHR, 1.15; 95% CI, 0.56-2.37), or distant metastases–free survival (aHR, 1.00; 95% CI, 0.42-2.40) after adjusting for age, sex, and clinical AJCC stage ( P > .05 for all). Conclusions Delayed diagnosis of HPV(+)OPSCC is associated with greater burden of disease at presentation, but oncologic outcomes remain favorable across treatment modalities. When appropriate, intent-to-cure therapy should be pursued despite diagnostic delay. Level of Evidence Level III.

scholarly journals Educational aspects of rare and orphan lung diseases

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tiago M. Alfaro ◽  
Marlies S. Wijsenbeek ◽  
Pippa Powell ◽  
Daiana Stolz ◽  
John R. Hurst ◽  
...  
Keyword(s):  
Lung Diseases ◽  
Healthcare Professionals ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Reference Network ◽  
Delay In Diagnosis ◽  
Positive Effects ◽  
European Reference Network ◽  
Patient Representatives ◽  
Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

Episodic versus Chronic Dizziness: An Analysis of Predictive Factors

2021 ◽  
pp. 000348942110254
Author(s):  
Eric J. Formeister ◽  
Ricky Chae ◽  
Emily Wong ◽  
Whitney Chiao ◽  
Lauren Pasquesi ◽  
...  
Keyword(s):  
Multivariate Regression ◽  
Treatment Options ◽  
Depression And Anxiety ◽  
Imaging Studies ◽  
Comorbid Depression ◽  
Cross Sectional ◽  
Tertiary Center ◽  
Chronic Dizziness ◽  
Associated Symptoms ◽  
History Of

Objectives: To elucidate differences in demographic and clinical characteristics between patients with episodic and chronic dizziness. Methods: A cross-sectional, observational study of 217 adults referred for dizziness at 1 tertiary center was undertaken. Subjects were split into a chronic dizziness group (>15 dizzy days per month) and an episodic dizziness group (<15 dizzy days per month). Results: 217 adults (average age, 53.7 years; 56.7% female) participated. One-third (n = 74) met criteria for chronic dizziness. Dizziness handicap inventory (DHI) scores were significantly higher in those with chronic dizziness compared to those with episodic dizziness (53.9 vs 40.7; P < .001). Comorbid depression and anxiety were more prevalent in those with chronic dizziness (44.6% and 47.3% vs 37.8% and 35.7%, respectively; P > .05). Abnormal vestibular testing and abnormal imaging studies did not differ significantly between the 2 groups. Ménière’s disease and BPPV were significantly more common among those with episodic dizziness, while the prevalence of vestibular migraine did not differ according to chronicity of symptoms. A multivariate regression that included age, sex, DHI, history of anxiety and/or depression, associated symptoms, and dizziness triggers was able to account for 15% of the variance in the chronicity of dizziness (pseudo- R2 = 0.15; P < .001). Conclusions: Those who suffer from chronic dizziness have significantly higher DHI and high comorbid rates of depression and anxiety than those with episodic dizziness. Our findings show that factors other than diagnosis alone are important in the chronification of dizziness, an observation that could help improve on multimodal treatment options for this group of patients.

scholarly journals The ability of clinical and laboratory findings to predict in-hospital death in patients with thrombotic thrombocytopenic purpura in an internal and emergency medicine department

2012 ◽  
pp. 269-273
Author(s):  
Filippo Pieralli ◽  
Antonio Mancini ◽  
Alberto Camaiti ◽  
Giancarlo Berni ◽  
Carlo Nozzoli
Keyword(s):  
Emergency Medicine ◽  
Thrombotic Thrombocytopenic Purpura ◽  
Symptom Onset ◽  
Delayed Diagnosis ◽  
Disease Process ◽  
Hemodynamic Instability ◽  
Hospital Death ◽  
Laboratory Findings ◽  
Thrombocytopenic Purpura ◽  
Lactate Levels

Introduction: Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening syndrome characterized by microangiopathic anemia, thrombocytopenia, diffuse microvascular thrombosis, and ischemia. It is associated with very low levels of ADAMTS-13. Measurement of ADAMTS-13 levels is used for diagnostic and prognostic purposes, but in every-day clinical practice, this type of analysis is not always readily available. In this retrospective study, we evaluated prognostic value of clinical and laboratory findings in patients with TTP. Materials and methods: We retrospectively investigated patients with clinically diagnosed TTP treated in a unit of Internal and Emergency Medicine (1996-2007). Clinical and laboratory findings were collected and analyzed in order to assess their ability to predict in-hospital death. Results: Twelve patients were identified (mean age 59 + 22 years; 58% were women). Five (42%) died during the hospitalization, and the variables significantly associated with this outcome were: a delay between diagnosis and symptom onset (HR 1.36; 95% CI 1.04-1.78; p < 0.05); a higher severity score (HR 1.48; 95%CI 1,23-3.86; p < 0.05); hemodynamic instability with hypotension and/or shock (HR 3.35; 95%CI 3.02-9.26; p < 0.01); a higher schistocyte count on blood smear (HR 1.84; 95%CI 1.04-3.27; p < 0.05); and higher lactate values (HR 1.85; 95%CI 1.08- 3.16; p < 0.05). Conclusions: TTP is a rare and potentially fatal disease with protean manifestations. Delayed diagnosis after symptom onset is a major determinant of poor outcome. Hypotension and shock are also prognostically unfavourable. Laboratory evidence of cardiocirculatory compromise (i.e., elevated lactate levels) and extension of the disease process (i.e., schistocyte count > 3) are predictive of in-hospital death, independently of the hemodynamic profile on admission.

scholarly journals SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

2021 ◽  
Vol 12 ◽  
Author(s):  
Lu-Xi Chen ◽  
Hai-Feng Xu ◽  
Pei-Shan Wang ◽  
Xin-Xia Yang ◽  
Zhi-Ying Wu ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Natural History ◽  
Diagnostic Delay ◽  
Mutation Spectrum ◽  
Survival Duration ◽  
Southeastern China ◽  
History Of ◽  
Male Patients ◽  
The Mean ◽  
Als Patients

Background: Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A detailed natural history of SOD1-mutated ALS patients will provide key information for ongoing genetic clinical trials.Methods: We screened for SOD1 mutations using whole exome sequencing (WES) in Chinese ALS cases from 2017 to 2021. Functional studies were then performed to confirm the pathogenicity of novel variants. In addition, we enrolled previously reported SOD1 mutations in our centers from 2007 to 2017. The SOD1 mutation spectrum, age at onset (AAO), diagnostic delay, and survival duration were analyzed.Results: We found two novel SOD1 variants (p.G17H and p.E134*) that exerted both gain-of-function and loss-of-function effects in vitro. Combined with our previous SOD1-mutated patients, 32 probands with 21 SOD1 mutations were included with the four most frequently occurring mutations of p.V48A, p.H47R, p.C112Y, and p.G148D. SOD1 mutations account for 58.9% of familial ALS (FALS) cases. The mean (SD) AAO was 46 ± 11.4 years with a significant difference between patients carrying mutations in exon 1 [n = 5, 34.6 (12.4) years] and exon 2 [n = 8, 51.4 (8.2) years] (p = 0.038). The mean of the diagnostic delay of FALS patients is significantly earlier than the sporadic ALS (SALS) patients [9.5 (4.8) vs. 20.3 (9.3) years, p = 0.0026]. In addition, male patients survived longer than female patients (40 vs. 16 months, p = 0.05).Conclusion: Our results expanded the spectrum of SOD1 mutations, highlighted the mutation distribution, and summarized the natural history of SOD1-mutated patients in southeastern China. Male patients were found to have better survival, and FALS patients received an earlier diagnosis. Our findings assist in providing a detailed clinical picture, which is important for ongoing genetic clinical trials.

Cellular Origins of Endometriosis: Towards Novel Diagnostics and Therapeutics

2020 ◽  
Vol 38 (02/03) ◽  
pp. 201-215
Author(s):  
Caitlin E. Filby ◽  
Luk Rombauts ◽  
Grant W. Montgomery ◽  
Linda C. Giudice ◽  
Caroline E. Gargett
Keyword(s):  
Clinical Care ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Disease Recurrence ◽  
Diagnostic Tools ◽  
Unknown Etiology ◽  
Treatment Pathways ◽  
Retrograde Menstruation ◽  
Personalized Diagnosis ◽  
New Research

AbstractEndometriosis remains an enigmatic disease of unknown etiology, with delayed diagnosis and poor therapeutic options. This review will discuss the cellular, physiological, and genomic evidence of Sampson's hypothesis of retrograde menstruation as a cause of pelvic endometriosis and as the basis of phenotypic heterogeneity of the disease. We postulate that collaborative research at the single cell level focused on unlocking the cellular, physiological, and genomic mechanisms of endometriosis will be accompanied by advances in personalized diagnosis and therapies that target unique subtypes of endometriosis disease. These advances will address the clinical conundrums of endometriosis clinical care—including diagnostic delay, suboptimal treatments, disease recurrence, infertility, chronic pelvic pain, and quality of life. There is an urgent need to improve outcomes for women with endometriosis. To achieve this, it is imperative that we understand which cells form the lesions, how they arrive at distant sites, and what factors govern their ability to survive and invade at ectopic locations. This review proposes new research avenues to address these basic questions of endometriosis pathobiology that will lay the foundations for new diagnostic tools and treatment pathways.

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