WED 114 Pathways to diagnosis in PSP, CBD and PD

2018 ◽  
Vol 89 (10) ◽  
pp. A12.2-A12
Author(s):  
Swallow Diane ◽  
Counsell Carl

Misdiagnosis and delayed diagnosis are common in PSP/CBD. To inform approaches to reduce diagnostic delay, it is essential to systematically evaluate patient pathways to diagnosis.Cases with a final diagnosis of PSP (n=28), CBD (n=2), and 30 age-sex matched PD controls, were identified from the Parkinsonism Incidence in North-East Scotland study. Using general practitioner, hospital and research records, referral and diagnostic time intervals from symptom onset to death were recorded.Comparing PSP/CBD to PD, the median (interquartile range) time intervals from index symptom to first secondary care referral [0.7 (0.01, 2.53) vs 0.02 (0.00, 0.73) years] and review [0.84 (0.18, 2.56) vs 0.13 (0.07,0.88) years], and, first neurologist referral [1.67 (0.70, 4.45) vs 0.12 (0.00, 1.56) years] and review [1.72 (0.88, 4.53) vs 0.23 (0.11, 1.65) years], were significantly longer in PSP/CBD (p=0.001 to 0.031). The average time intervals from index symptom to a parkinsonian syndrome diagnosis [2.26 (0.85, 5.41) vs 0.10 (0.00, 0.90) years], inclusion of the final diagnosis amongst differential diagnoses [3.62 (2.06, 7.21) vs 0.16 (0.00, 1.53) years], and the final diagnosis as primary diagnosis [4.22 (2.28, 7.63) years vs 0.67 (0.10, 3.04) years] were similarly longer in PSP/CBD (p≤0.001).Referral and diagnostic time intervals are significantly longer in PSP/CBD when compared to PD. Identifying factors that both improve the timing and destination of referral decision-making, and the accuracy and timeliness of diagnosis is necessary.

2019 ◽  
pp. III-IV
Author(s):  
Fotios Drakopanagiotakis ◽  
Andreas Günther

Background: Surveys and retrospective studies of patients with idiopathic pulmonary fibrosis (IPF) have shown a significant diagnostic delay. However, the causes and risk factors for this delay are not known. Methods: Dates at six time points before the IPF diagnosis (onset of symptoms, first contact to a general practitioner, first hospital contact, referral to an interstitial lung disease (ILD) centre, first visit at an ILD centre, and final diagnosis) were recorded in a multicentre cohort of 204 incident IPF patients. Based on these dates, the delay was divided into specific patient-related and healthcare-related delays. Demographic and clinical data were used to determine risk factors for a prolonged delay, using multivariate negative binomial regression analysis. Results: The median diagnostic delay was 2.1 years (IQR: 0.9-5.0), mainly attributable to the patients, general practitioners and community hospitals. Male sex was a risk factor for patient delay (IRR: 3.84, 95% CI: 1.17-11.36, p = 0.006) and old age was a risk factor for healthcare delay (IRR: 1.03, 95% CI: 1.01-1.06, p = 0.004). The total delay was prolonged in previous users of inhalation therapy (IRR: 1.99, 95% CI: 1.40-2.88, p < 0.0001) but not in patients with airway obstruction. Misdiagnosis of respiratory symptoms was reported by 41% of all patients. Conclusion: Despite increased awareness of IPF, the diagnostic delay is still 2.1 years. Male sex, older age and treatment attempts for alternative diagnoses are risk factors for a delayed diagnosis of IPF. Efforts to reduce the diagnostic delay should focus on these risk factors.


2017 ◽  
Vol 06 (01) ◽  
pp. 028-030 ◽  
Author(s):  
Jeyaanth P. Venkatasai ◽  
Srividya Srinivasamaharaj ◽  
Latha Magatha Sneha ◽  
Julius Xavier Scott ◽  
Anu Kurian Baby ◽  
...  

Abstract Introduction: Childhood malignancy, although a rare phenomenon, is still the leading cause of mortality in the pediatric population. Early diagnosis and treatment are imperative for the achievement of optimal prognosis. The study of factors facilitating the delay in diagnosis is thus of utmost importance, to both shorten the diagnostic delay and allow for early therapeutic intervention, facilitating a higher prognosis. Objective: To assess the referral pattern and the identification of potential delays in the diagnosis of childhood malignancy in a developing country. Methodology: The study was conducted in the Pediatric Hematology and Oncology department of Sri Ramachandra University, Chennai, India. The study included randomly selected 70 pediatric patients diagnosed with a hematological malignancy, from July 2012-August 2013. The parents were interviewed using a prepared questionnaire about patient symptomatology, interaction with healthcare providers, final diagnosis, and referral details. Data were statistically analyzed using Statistica® (STATsoft). Results: 70 patients were included in the study (69% boys, 31% girls). The diagnostic delay was primarily due to the delay experienced in the healthcare system, with a mean delay of 26 days (Median: 18; Range: 5-39). Those from a lower socioeconomic background and whom opted for a non-allopathic treatment approach experienced higher diagnostic delays. Diagnostic time was significantly shorter for those who visited a pediatrician versus the patients who visited a general physician or super specialties (P = 0.043). Conclusions: Diagnostic delay is often associated with an extensive disease presentation, an aggressive therapeutic approach, and has a negative impact on patient prognosis. To lower mortality rate and facilitate a favourable prognosis, diagnosis requires a high degree of clinical suspicion and immediate intervention.


2020 ◽  
Vol 38 (02/03) ◽  
pp. 201-215
Author(s):  
Caitlin E. Filby ◽  
Luk Rombauts ◽  
Grant W. Montgomery ◽  
Linda C. Giudice ◽  
Caroline E. Gargett

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.


2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S220-S220
Author(s):  
M Di Ruscio ◽  
F Vernia ◽  
A Variola ◽  
G Lunardi ◽  
S Resimini ◽  
...  

Abstract Background Delayed diagnosis is common in inflammatory bowel diseases (IBD) and has been reported to be longer for patients with Crohn’s disease (CD) than for those with ulcerative colitis (UC). Aims of study were to assess the median time to diagnosis in IBD patients, to examine whether diagnostic delay (DD) has improved over the years and its impact on biological treatment and need for surgery. Methods A retrospective monocentric study including IBD patients living in the area of Verona (Italy), diagnosed up to 2019 and followed-up for at least 6 months at IRCCS Sacro Cuore—Don Calabria, Negrar, was carried out. DD was defined as the period (months) from symptoms onset to histological diagnosis of IBD and reported as &lt;6 months, 6–12 months and &gt;12 months. Results Six-hundred-six patients (255 CD; 351 UC; 308 males; 298 females) were enrolled. Median DD was 10 (IQR 2–12), 6 (IQR 1–12) and 2 (IQR 1–7) months &lt;2000, between 2001–2010, and &gt;2010, respectively. Median time to diagnosis was not significantly longer in CD than in UC patients (4 vs. 3 months; IQR 1- 12). No sex- or age-related differences in DD were observed. Using the Mann–Whitney test, DD was longer in patients diagnosed &lt;2000 and between 2001–2010, than in those diagnosed &gt;2010 (p = 0.0000 and p = 0.0004). Comparing DD &lt;2000 and &gt;2010, the statistical difference was reported for UC (p = 0.0000) but not for CD (p = 0.2756). Considering the use of biologics over the years, patients diagnosed between 2000–2010, and &gt;2010 were compared (194 CD and 333 UC), reporting a significant increase in their use both for CD (30 vs. 60; p = 0.0008) and UC (28 vs. 43; p = 0.0000). DD did not influence the need for biological treatment in both diseases (p = 0.987 for CD; p = 0.433 for UC). Considering a DD &lt;6, 6–12, and &gt;12 percentages of patients needing biologics were respectively 53.4%, 63.6% and 56.5% for CD and 28.5%, 34.1% and 26.3% for UC. Seventy-two CD and 27 UC patients needed surgery. Analyzing the time to surgery, DD did not influence the rate of resections in CD (p = 0.6559), as well as in UC (p = 0.2792). Conclusion In our cohort, DD has significantly decreased over the last years, more for UC than CD patients. This is probably related to the increased awareness of patients on disease and of general practitioners in sending them to the specialist. Considering the published literature, UC and CD did not differ in DD; moreover age at diagnosis did not affect DD in our patients. DD did not influence the need for biological treatment or surgery rates in both diseases. These results are probably related to the difference in disease extension and severity among the patients enrolled. An analysis on targeted patients at higher risk for bowel damage is presently under way.


2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Hind Mimouni ◽  
Khalid Hassouni ◽  
Boujemaa El Marnissi ◽  
Bouchra Haddou Rahou ◽  
Leila Alaoui ◽  
...  

Introduction. The aim of this study is to document time intervals in cervical cancer care pathways, from symptom onset to disease detection and start of treatment, and evaluate how clinical, sociodemographic, and treatment factors influence delays throughout a patient’s clinical pathway. Methods. A retrospective study was conducted at the FEZ Oncology Hospital of the Hassan II University Hospital Center in Morocco. Results. 190 medical records of cervical cancer patients were collected. The dominant age group was 35–44, the median patient delay (PD) was 6 days, the median healthcare provider’s delay (HCP) was 21 days, the median referral delay (RD) was 17 days, the median diagnostic delay (DD) was 9.5 days, the median total diagnostic delay (TDD) was 16 days, the median treatment delay (TD) was 67 days, and the median health system interval (HSI) was 92 days. Multivariate analysis revealed that age was associated with the patient delay, the healthcare provider’s delay, the diagnosis delay, and the health system interval. The diagnosis year (the year in which the patient was diagnosed (either before 2012 or during 2012 as well as the other study years (from 2013 to 2017))), all investigations done prior to admission to the oncology hospital, and the age of first sexual activity were significantly associated with healthcare provider’s delay. Conclusion. The integration of a model and standard care pathway into the Moroccan health system is essential in order to unify cervical cancer care in the country.


2019 ◽  
Vol 69 (679) ◽  
pp. e106-e111 ◽  
Author(s):  
Pauline Williams ◽  
Peter Murchie ◽  
Christine Bond

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.


2013 ◽  
Vol 169 (4) ◽  
pp. 431-438 ◽  
Author(s):  
Cynthia Ramiandrasoa ◽  
Frédéric Castinetti ◽  
Isabelle Raingeard ◽  
Patrick Fenichel ◽  
Olivier Chabre ◽  
...  

BackgroundLittle is known about Sheehan's syndrome (SS), even though it is believed that its incidence is low. The aims of this study were to determine the clinical features and diagnostic delay of SS and to ascertain whether early signs could have allowed earlier diagnosis.Subjects and methodsAll patients with SS diagnosed in reference units in the southeast of France between 1980 and 2011 were recruited for this study. Data on obstetrical history, clinical symptoms suggestive of hypopituitarism, early signs, hormone analysis, and magnetic resonance imaging were collected.ResultsOf the 40 women found to have SS, 39 were studied. Mean delay in the diagnosis of SS was 9±9.7 years. We found that four of the 35 assessable patients were diagnosed with agalactia, 16 of the 29 assessable ones with amenorrhea, 19 of the 39 with hypothyroidism, eight with acute adrenal insufficiency, and 15 with asthenia. Among the patients for whom there was a diagnostic delay of more than 1 year (n=28), seven had headaches during the postpartum period, all assessable patients had agalactia, six of the 22 assessable ones had amenorrhea, seven of 28 had hypothyroidism, and 12 of 28 had asthenia.ConclusionMost signs of SS are aspecific and classical signs such as agalactia and amenorrhea are often difficult to detect, which can explain the long diagnostic delay. We suggest that all women failing to lactate after postpartum hemorrhage (PPH) should be evaluated by measuring prolactin levels and women with signs such as amenorrhea and asthenia, even several years after PPH, should undergo a blood test including assessment of thyroxine, TSH, 0800 h ACTH–cortisol, and IGF1 levels.


1994 ◽  
Vol 165 (3) ◽  
pp. 395-399 ◽  
Author(s):  
Shoumitro Deb ◽  
K. B. G. Prasad

BackgroundIt has been suggested recently that the prevalence of autistic disorder may be rising. No prevalence study specifically among learning disabled children exists and so this study was prompted.Method. 767 children with a learning disability who attended 16 different special schools in the Grampian region of north-east Scotland were studied for a diagnosis of autistic disorder according to the DSM–III–R criteria. The study was conducted in three stages. In the first screening stage, a questionnaire was completed for each child by their teachers. In the second stage, teachers completed another questionnaire based on DSM–III–R criteria for autistic disorder. A final diagnosis was made on the basis of examination and information gathered from the questionnaires.ResultsQuestionnaires were completed for 634 (82.7%) children. 14.3% of children with a learning disability fulfilled the diagnostic criteria for autistic disorder. There was a male: female ratio of 3:1. This gave a 9 per 10 000 minimum prevalence of autistic disorder among all school-age children in the Grampian region. There was a higher prevalence of autistic disorder in the cities compared with rural areas. The prevalence did not change with age but increased with decreasing IQ.


2006 ◽  
Vol 21 (5) ◽  
pp. 1-7 ◽  
Author(s):  
Matthew A. Hunt ◽  
Kristoph Jahnke ◽  
Tulio P. Murillo ◽  
Edward A. Neuwelt

Object White matter diseases, including demyelinating or inflammatory disorders, may be indistinguishable clinically and radiologically from some central nervous system (CNS) tumors. In such situations, determination of the final diagnosis is difficult. An example is the differential diagnosis of non-acquired immunodeficiency syndrome–related primary central nervous system lymphoma (PCNSL) and multiple sclerosis (MS), a demyelinating disease. Unfortunately, delayed diagnosis and treatment of PCNSL can negatively affect prognosis. Methods The authors reviewed the cases of eight patients with PCNSL or MS. In each case, the initial diagnosis (PCNSL or MS) was equivocal. In these cases, conventional diagnostic approaches were not definitive, thus further delaying diagnosis. The initial symptoms, the selected diagnostic tests, and the presumptive as well as final diagnosis for each case are discussed. The final diagnosis was PCNSL in six cases and MS in two. The uncertainty about the clinical or initial pathological presentation required further diagnostic evaluation in all cases. Two important neurosurgical guidelines are the avoidance of corticosteroid agents and performance of biopsy sampling rather than volumetric tumor resection. High-volume lumbar puncture, slit-lamp examination/vitrectomy, new CNS imaging techniques, and repeated biopsy procedures also proved helpful. Conclusions In PCNSL, early definitive diagnosis and treatment are the keys to successful outcomes. Knowledge of strategies essential to early diagnosis lessens the need for brain biopsy sampling, but this procedure is still usually necessary. In such selected cases, biopsy sampling is appropriate even when pathological investigation shows MS rather than PCNSL. Complete resection is not indicated in PCNSL and can lead to additional sequelae.


2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
T. Evans ◽  
S. Roy ◽  
M. Rocker

Pseudoaneurysms of the subclavian artery remain a rare complication after fracture of the clavicle. We report a case of delayed diagnosis of a subclavian artery pseudoaneurysm after a closed fracture of the clavicle in a 15-year-old patient, 3 months after the original injury while playing rugby union. Despite several attendances to the Emergency Department with vague symptoms, the final diagnosis was confirmed by duplex ultrasound and Computed Tomography of the thorax. Surgical repair was indicated due to acute limb ischaemia from distal embolisation from a large pseudoaneurysm, with the patient making a full recovery. This case highlights the need for clinical vigilance when assessing patients, particularly on repeated occasions when their recovery appears to be impaired. A thorough history and clinical examination can raise suspicion of even rare occurrences and aid prompt management.


Sign in / Sign up

Export Citation Format

Share Document