Incorrect Initial Diagnosis Research Articles

Fatigue fracture of the second rib in a professional athlete

A fatigue fracture, also known as stress fracture or overuse fracture, is caused by the summation of micro-injuries resulting from a chronic state of bone overload. It affects 1.4 %- 4.4 % of professional athletes. The most common site of fatigue fractures are the lower limbs. This is related to the heavy load caused by body weight and performing dynamic activities like jumping, running. Typical fractures are fractures of the fifth metatarsal bone, fibula and tibia, and less common fractures of the femur. Fractures involving the bones of the upper limbs and thorax are less commonly reported in the literature. It affect athletes in strength sports and athletes who perform dynamic and repetitive movements with their upper limbs, most often boxers, weightlifters, wrestlers, judokas, swimmers, golfers, rowers. Fractures in the thorax most often involve the first rib. Fractures of ribs II through XII are extremely rarely described. We present an unusual case of a second rib fracture in a professional athlete. A 26-year-old athlete training in racewalking reported increasing pain in the left scapula area 7 days before competing in the European Championships. Immediately after the competition, the pain changed location to the anterior thorax area, making movement of the upper limb and breathing much more difficult. A chest tomography was performed and it revealed a fatigue fracture of the second rib on the left side. The case report presents an atypical fracture in a female racewalking athlete and presents the uncharacteristic symptoms accompanying this fracture. Incorrect initial diagnosis and application of physiotherapy procedures without performing basic diagnostic tests, delay the diagnosis and initiation of proper treatment, and thus the athlete's recovery.

Misdiagnosis Based on Neoplastic Markers-Extremely High Alpha-Fetoprotein in Patients with Intrahepatic Cholangiocarcinoma with Literature Review of the Published Cases.

Background: Alpha-fetoprotein (AFP) and carbohydrate antigen 19-9 (CA 19-9) are two tumor markers that are widely used in the differential diagnosis in patients with primary liver tumors. Very high levels of AFP are sporadically observed in patients with intrahepatic cholangiocarcinoma (ICC) and may cause an incorrect initial diagnosis of hepatocellular carcinoma (HCC). Methods: Two cases of tumors in cirrhotic livers were described, in which the initial diagnosis, based on very high AFP levels (Patient I: 10,464 ng/mL, Patient II: 2212 ng/mL, reference range: ≤8.04 ng/mL) was HCC. In addition, the PubMed database was searched for cases of ICC with elevated AFP. Discussion: In both individuals, liver cirrhosis was diagnosed, but there was no typical rapid "washout" in the contrast-enhanced computed tomography. Based on the histological assessment of samples obtained in the core biopsies, the initially assumed diagnosis of HCC was changed to ICC in both cases. Only nine cases of patients with ICC and high AFP levels were found in the PubMed database. The AFP levels ranged from slightly elevated to over 16,000 ng/mL. Conclusions: A very high AFP level does not necessarily correlate with the presence of HCC. Therefore, the diagnosis has to be verified histologically, when the radiological imaging is uncertain in patients with liver cirrhosis.

FACTORS ASSOCIATED WITH DELAYED DIAGNOSIS IN PATIENTS WITH PRIMARY VITREORETINAL LYMPHOMA.

To identify demographic and clinical factors associated with delayed diagnosis in patients with primary vitreoretinal lymphoma (VRL). Retrospective, tertiary referral center-based cohort study of all patients at Mayo Clinic in Rochester, Minnesota, with a biopsy-proven diagnosis of VRL from January 1, 2000, to October 31, 2022. There were 87 patients included during the 22-year study period with 73 patients (83.9%) diagnosed with VRL upon initial evaluation at the tertiary center, with the other 14 patients (16.1%) diagnosed later. The median referral time was 4.8 months (range: 0-113 months). Patients who received an initial diagnosis of inflammatory uveitis or another incorrect diagnosis elsewhere were referred slower than those initially diagnosed with VRL (P = 0.04). The most common incorrect initial diagnosis from an outside institution was inflammatory uveitis (n = 35, 40.2%). When patients were split into four groups based on referral time, prior use of corticosteroids was associated with a significant delay in referral (P = 0.03). Diagnosing VRL continues to be challenging, as months-long delays from initial evaluation to expert referral center evaluation are common. Prior use of corticosteroids was associated with delay in diagnosis and referral time, underscoring the need to increase awareness regarding differences between VRL and uveitis.

Concurrent Craniosynostosis and Positional Plagiocephaly: A Scoping Review

Background: Craniosynostosis and positional plagiocephaly (PP) both lead to deformities of the infant skull. In some cases, patients may present with concurrent craniosynostosis and PP. The forces exerted on the skull by both conditions can complicate and delay correct diagnosis and require adjustments to surgical planning. Objective: The purpose of this scoping review was to identify and analyze the existing peer-reviewed literature covering the diagnosis and treatment of concurrent craniosynostosis and PP. Design: In accordance with PRISMA guidelines, PubMed, MEDLINE, and EMBASE were searched for articles discussing concurrent diagnoses of craniosynostosis and PP. Results: Out of 633 articles discovered, 7 met inclusion criteria and discussed a cumulative total of 10 patients. The average age of referral to a craniofacial team was 17 ± 22.2 months. The most common reason for referral was craniofacial asymmetry (90%, n = 9). 40% presented with unilateral coronal synostosis (n = 4), 40% with lambdoid synostosis (n = 4), 10% with sagittal synostosis (n = 1), and 10% with metopic synostosis (n = 1). The most commonly reported clinical features were occipital flattening (90%, n = 9), ear displacement (80%, n = 8), and frontal bossing (30%, n = 3). Delayed or incorrect initial diagnosis was noted in 70% (n = 7) of patients. CT scan was the most commonly employed diagnostic tool, utilized in 100% of patients. 70% of patients (n = 7) underwent surgery at an average age of 6.75 ± 3 months. Two studies, accounting for 2 patients reported, noted altering their surgical technique to account for PP in addition to the synostotic suture. Conclusions: Coincident craniosynostosis and PP can pose a complicated diagnostic and therapeutic challenge. An in-depth understanding of the most reliable physical exam findings associated with each type of craniosynostosis combined with PP will facilitate accurate diagnosis. Consideration of the concurrent forces on the skull created by craniosynostosis and PP aid in the design of a tailored surgical plan.

Abstract PO3-10-11: Mujeres Avanzando a la Sobrevida (MAS: women going forward in survival): Breast Cancer Characteristics and Delays in Care in Honduras

Abstract Introduction: Low and middle-income countries have exceedingly high breast cancer mortality rates primarily due to delays to diagnosis and treatment. The Breast Health Global Initiative (BHGI) recommends a diagnostic interval (time from initial provider visit to receiving a diagnosis) of < 60 days. Honduras is one of the poorest countries in the western hemisphere and has a paucity of published breast cancer research. Our objective was to understand delays in breast cancer diagnosis and treatment in Honduras. Methods: We initiated a prospective cohort study (Mujeres Avanzando a la Sobrevida (MAS: Women Going Forward in Survival)) in 2021 at two hospitals in two major cities in Honduras. All patients with newly diagnosed breast cancer were invited to participate. We prospectively collected demographic, cancer, and treatment data through patient interviews and surveys. We also determined several time intervals including: onset of symptoms to initial provider visit (patient interval), initial provider visit to biopsy (diagnostic interval), and biopsy to first treatment (treatment interval). Patients also completed the Unger-Saldana Delay Survey to assess their perceptions of any delays in cancer care and reasons for these delays. Results: We enrolled 95 patients with an average age of 54 years. 73% of patients reported an income of < 1 minimum wage (< 8,448 lempiras/month). 93% were housewives, and 35% were married. The majority of patients had an elementary school education or no education (61%). The most common first symptom was a breast lump (81%). The majority of patients had advanced stage disease (Stage III and IV: 64%). The mean patient interval was 185 days. The mean diagnostic interval was 153 days, and the mean treatment interval was 139 days. Most patients (61%) thought their symptoms were slightly serious or not serious at all, and 78% did not think their symptoms were due to cancer. Most patients (60%) thought they were able to see a physician immediately or soon after symptoms developed (63%). Patient stated reasons for not seeking care earlier included believing their symptoms would self-improve, being unsure which health service to go to, lack of money, and fear. Similarly, most patients (67%) thought the time between seeing their first provider and visiting the cancer hospital was immediate or soon but not immediately. Reasons for this delay included lack of information, lack of money, wait times to appointment or tests, incorrect initial diagnosis, and fear. Conclusion: In this prospective cohort study, nearly two-thirds of patients in Honduras were diagnosed with stage III/IV breast cancer. We found marked delays in patient, diagnostic, and treatment intervals, even though patients perceived their care to be immediate. Importantly, the diagnostic interval far exceeded 60 days, as recommended by the BHGI. This study provides initial insight into delays in breast cancer care in Honduras and provides an opportunity to target obstacles to early diagnosis and treatment and to improve breast cancer survival. Citation Format: Saranya Prathibha, Alejandra Molina, Jorge Siryi, Kristhel Gaitán, Mildred Raudales, Manuel Maldonado, Todd Tuttle, Suyapa Bejarano. Mujeres Avanzando a la Sobrevida (MAS: women going forward in survival): Breast Cancer Characteristics and Delays in Care in Honduras [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-10-11.

Influence of initial misdiagnosis on mortality in patients with bacteraemia: propensity score matching and propensity score weighting analyses

BackgroundThe diagnostic process is a key element of medicine but it is complex and prone to errors. Infectious diseases are one of the three categories of diseases in which diagnostic errors can be most harmful to patients. In this study we aimed to estimate the effect of initial misdiagnosis of the source of infection in patients with bacteraemia on 14 day mortality using propensity score methods to adjust for confounding.MethodsData from a previously described longitudinal cohort of patients diagnosed with monobacterial bloodstream infection (BSI) at the Leiden University Medical Centre (LUMC) between 2013 and 2015 were used. Propensity score matching and inversed probability of treatment weighting (IPTW) were applied to correct for confounding. The average treatment effect on the treated (ATT), which in this study was the average effect of initial misdiagnosis on the misdiagnosed (AEMM), was estimated. Methodological issues that were encountered when applying propensity score methods were addressed by performing additional sensitivity analyses. Sensitivity analyses consisted of varying caliper in propensity score matching and using different truncated weights in inversed probability of treatment weighting.ResultsData of 887 patients were included in the study. Propensity scores ranged between 0.015 and 0.999 and 80 patients (9.9%) had a propensity score > 0.95. In the matched analyses, 35 of the 171 misdiagnosed patients died within 14 days (20.5%), versus 10 of the 171 correctly diagnosed patients (5.8%), yielding a difference of 14.6% (7.6%; 21.6%). In the total group of patients, the observed percentage of patients with an incorrect initial diagnosis that died within 14 days was 19.8% while propensity score reweighting estimated that their probability of dying would have been 6.5%, if they had been correctly diagnosed (difference 13.3% (95% CI 6.9%;19.6%)). After adjustment for all variables that showed disbalance in the propensity score a difference of 13.7% (7.4%; 19.9%) was estimated. Sensitivity analyses yielded similar results. However, performing weighted analyses without truncation yielded unstable results.ConclusionThus, we observed a substantial increase of 14 day mortality in initially misdiagnosed patients. Furthermore, several patients received propensity scores extremely close to one and were almost sure to be initially misdiagnosed.

Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data

Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal lysosomal storage disease. This two-part international study aimed to understand physician, patient, and caregivers' experiences during the ASMD diagnostic journey. Qualitative interviews were conducted with patients with ASMD type B or A/B, caregivers (for patients <18 years), and physicians (January 2018–May 2019). A quantitative patient chart review was then performed by physicians (1–3 charts per physician) (April to May 2020). Overall, 12 physicians and 27 patients (self-reported, n = 11; caregiver-reported, n = 16) completed qualitative interviews. Symptoms first presented at approximately 2 years, with physician visits 2 months–1 year later. On average, diagnosis took 3 years and average age at diagnosis was 5 years. During childhood, all patients reported abdominal enlargement and 67% had respiratory issues. Adult patients frequently reported fatigue (64%) and heart problems (36%). In the quantitative study, 86 physicians reviewed 193 ASMD patient charts. At initial presentation, most patients reported abdominal enlargement (pediatric, 55%; adolescents/adults, 39%). Time to diagnosis ranged 0–10 years for patients with ASMD type A/B or type B, and most patients (85%) received an incorrect initial diagnosis. Diagnosis of ASMD can be challenging, and is often delayed due to disease heterogeneity and misdiagnoses.

Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson's disease, and essential tremor.

Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease that affects carriers of a 55-200 CGG repeat expansion in the fragile X messenger ribonucleoprotein 1 (FMR1) gene, may be given an incorrect initial diagnosis of Parkinson's disease (PD) or essential tremor (ET) due to overlapping motor symptoms. It is critical to characterize distinct phenotypes in FXTAS compared to PD and ET to improve diagnostic accuracy. Fast as possible (FP) speed and dual-task (DT) paradigms have the potential to distinguish differences in gait performance between the three movement disorders. Therefore, we sought to compare FXTAS, PD, and ET patients using quantitative measures of functional mobility and gait under self-selected (SS) speed, FP, and DT conditions. Participants with FXTAS (n = 22), PD (n = 23), ET (n = 20), and controls (n = 20) underwent gait testing with an inertial sensor system (APDM™). An instrumented Timed Up and Go test (i-TUG) was used to measure movement transitions, and a 2-min walk test (2MWT) was used to measure gait and turn variables under SS, FP, and DT conditions, and dual-task costs (DTC) were calculated. ANOVA and multinomial logistic regression analyses were performed. PD participants had reduced stride lengths compared to FXTAS and ET participants under SS and DT conditions, longer turn duration than ET participants during the FP task, and less arm symmetry than ET participants in SS gait. They also had greater DTC for stride length and velocity compared to FXTAS participants. On the i-TUG, PD participants had reduced sit-to-stand peak velocity compared to FXTAS and ET participants. Stride length and arm symmetry index during the DT 2MWT was able to distinguish FXTAS and ET from PD, such that participants with shorter stride lengths were more likely to have a diagnosis of PD and those with greater arm asymmetry were more likely to be diagnosed with PD. No gait or i-TUG parameters distinguished FXTAS from ET participants in the regression model. This is the first quantitative study demonstrating distinct gait and functional mobility profiles in FXTAS, PD, and ET which may assist in more accurate and timely diagnosis.

Benign peripheral nerve sheath tumors: an interdisciplinary diagnostic and therapeutic challenge

A benign peripheral nerve sheath tumor (bPNST) is a rare lesion associated with peripheral nerval structures. Symptoms may be heterogeneous, complicating diagnosis finding. Additionally, management concepts of bPNST may vary. In some cases, initial misdiagnosis leads to mistreatment resulting in severe functional deficits and chronic pain syndromes. Therefore, we analyzed patients treated for bPNST in our specialized institution with a primary focus on prior misdiagnosis and possible mistreatment. Patients with bPNSTs (schwannomas, neurofibromas, hybrid nerve sheath tumors, and perineuriomas) treated at the Neurosurgical Department between January 1, 2015, and July 31, 2021, were included. Assessment of demographics, tumor entity, tumor location, symptoms, the interval between the onset of symptoms and surgery, involved medical specialties, and outpatients’ treatment, with particular focus on initial misdiagnosis and inappropriate medical treatment, was performed. Eighty-five patients were included in the final analysis with schwannoma being the most prevalent histopathological diagnosis (schwannoma (75.3%, n=64), neurofibroma (12.9%, n=11), hybrid nerve sheath tumor (5.9%, n=5), and perineurioma (5.9%, n=5)). An incorrect primary diagnosis was detected in 44.7% (n=38), leading to suboptimal or insufficient treatment in these cases. Of those, 28.9% (n=11/38) were treated suboptimal, while 18.5% (n=7/38) underwent unnecessary invasive diagnostics. Inappropriate surgery based on prior misdiagnosis, which led to severe neurological deficits in all these cases, was reported in 26.3% (n=10/38). For the first time, our data shows the quantity and impact of incorrect initial diagnosis in bPNST causing a delay in causative treatment or resulting in unnecessary or potentially harmful treatment.

Osteoid osteomas of the hip: a well-recognized entity with a proclivity for misdiagnosis

ObjectivesThe diagnosis of osteoid osteomas (OO) about the hip can be challenging as presenting symptoms can mimic other, more common, periarticular pathologies. Our aims were to identify the most common misdiagnoses and treatments, mean delay in diagnosis, characteristic imaging features and provide tips for avoiding diagnostic imaging pitfalls for patients with OO of the hip.MethodsWe identified 33 patients (34 tumors) with OO about the hip who were referred for radiofrequency ablation between 1998 and 2020. Imaging studies reviewed included radiographs (n = 29), CT (n = 34), and MRI (n = 26).ResultsThe most common initial diagnoses were femoral neck stress fracture (n = 8), femoroacetabular impingement (FAI) (n = 7), and malignant tumor or infection (n = 4). The mean time from symptom onset to diagnosis of OO was 15 months (range, 0.4–84). The mean time from initial incorrect diagnosis to OO diagnosis was 9 months (range, 0–46).ConclusionsThe diagnosis of OO of the hip is challenging, with up to 70% of cases initially misdiagnosed as a femoral neck stress fracture, FAI, bone tumor, or other joint pathology in our series. Consideration of OO in the differential diagnosis of hip pain in adolescent patients and awareness of the characteristic imaging findings are critical for making an accurate diagnosis.Key Points• The diagnosis of osteoid osteoma of the hip can be challenging, as demonstrated by long delays in time to initial diagnosis and high rates of misdiagnoses which can lead to inappropriate interventions.• Familiarity with the spectrum of imaging features of OO, especially on MRI, is imperative given the increase in the utilization of this modality for the evaluation of young patients with hip pain and FAI.• Consideration of OO in the differential diagnosis of hip pain in adolescent patients and awareness of the characteristic imaging findings, including bone marrow edema and the utility of CT, are critical for making a timely and accurate diagnosis.

PO-01-075 TRANSTHORACIC ECHOCARDIOGRAPHY FOR EARLIER DIAGNOSIS OF ATRIOESOPHAGEAL FISTULA AFTER ABLATION FOR ATRIAL FIBRILLATION

Atrioesophageal fistula (AEF) is a rare complication of radiofrequency ablation for atrial fibrillation (AF). Early diagnosis and surgical management are keys to mitigate progression of this often moribund complication. Although chest CT is the preferred first line imaging tool for diagnosis, AEF symptoms are often variable and counterintuitive which prompts the need to understand echocardiographic findings that may lead to an earlier diagnosis. To report the initial echocardiogram findings of two patients that were ultimately diagnosed with AEF. N/A A 79-year-old male with symptoms AF and gastroesophageal reflux underwent an uneventful pulmonary vein isolation (PVI). Approximately 3 weeks after the ablation, the patient presented to his local hospital with profound fatigue and was found to have nonspecific ST/T changes with an elevated troponin. The transthoracic echocardiogram (TTE) showed moderate left ventricular dysfunction and echo dense microbubbles in the left atrium and ventricle, but not in the corresponding right-sided chambers (Figure A). An emergent CT scan based upon the TTE showed an AEF and he underwent and emergent surgery to repair the AEF. A 49-year-old male underwent a PVI with additional targeting of regions of complex fractionated electrograms on the posterior wall. Two weeks later he developed worsening dyspnea on exertion and chest pain. A CT scan found multiple septic pulmonary emboli and a TTE noted a mobile density crossing the intra-atrial septum. During transfer to our center, he developed progressive respiratory failure and required intubation. Upon arrival he was found to have multiple embolic injuries to his brain and focal neurologic findings. A transesophageal echocardiogram (Figure B) confirmed the mobile density in the right atrium that was an extension of a lesion originating from the posterior left atrium and extending to the iatrogenic atrial septal defect. AEF requires very early diagnosis for survival. In the setting of often non-specific symptoms, such as in these two cases that can lead to an initial incorrect diagnosis, the TTE provided key information to support the underlying diagnosis and guide expedited work-up and intervention.

The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease.

To identify and highlight potential delays in diagnosis and improve the characterization of the providers referring individuals affected with suspected IRDs for specialty care, we performed an analysis of the patients with IRDs seen by an ophthalmic genetics specialty service. In addition, we analyzed the diagnostic yield of genetic testing in patients with IRD in our series and compared this information with other previous studies. We analyzed 131 consecutive patients with suspected IRDs referred to an ophthalmic genetics specialty service at a tertiary hospital. Provider referral patterns, delays in diagnosis and the diagnostic yield of genetic testing were evaluated. Mean age in the cohort was 24 years. From the 51 patients that underwent genetic testing, the diagnostic yield was 69%. Of these, genetic testing revealed 51% of patients had an incorrect initial referral clinical diagnosis. The average delay to reach a correct diagnosis was 15 years. Ophthalmologists represented the largest referral base at 80%, followed by neurologists representing 5% of referrals. Pediatric and retinal specialists were the largest referral of ophthalmic subspecialties at 44% and 35%, respectively. A significant number of patients experienced a prolonged delay in reaching a correct diagnosis largely due to a delay in initiating the genetic evaluation and testing process. The initial suspected clinical diagnosis was incorrect in a significant number of cases, revealing that affected patients were potentially denied from appropriate recurrence risk counseling, relevant educational resources, specialty referrals in syndromic cases, and clinical trial eligibility in a timely manner.

The Future of Ischemic Stroke Diagnosis and a Review of Underrecognized Ischemic Stroke Etiologies.

Accurate ischemic stroke etiologic determination and diagnosis form the foundation of excellent cerebrovascular care as from it stems initiation of the appropriate secondary prevention strategy as well as appropriate patient education regarding specific risk factors for that subtype. Recurrent stroke rates are highest among those patients who receive an incorrect initial stroke diagnosis. Patient distrust and patient reported depression are also higher. The cause of the ischemic stroke also informs predicted patient outcomes and the anticipated recovery trajectory. Finally, determining the accurate cause of the ischemic stroke provides the patient the opportunity to enroll in appropriate research studies studying mechanism, or targeting treatment approaches for that particular disease process. Advances in ischemic stroke research, imaging techniques, biomarkers, and the ability to rapidly perform genetic sequencing over the past decade have shown that classifying patients into large etiologic buckets may not always be appropriate and may represent one reason why some patients are labeled as cryptogenic, or for whom an underlying etiology is never found. Aside from the more traditional stroke mechanisms, there is new research emerging regarding clinical findings that are not normative, but the contributions to ischemic stroke are unclear. In this article, we first review the essential steps to accurate ischemic stroke etiologic classification and then transition to a discussion of embolic stroke of undetermined source (ESUS) and other new entities that have been postulated as causal in ischemic stroke (i.e., genetics and subclinical atherosclerosis). We also discuss the limitations that are inherent in the current ischemic stroke diagnostic algorithms and finally review the most recent studies regarding more uncommon diagnoses and the future of stroke diagnostics and classification.

Difficulties in differential diagnosis between obstructive and non-obstructive azoospermia

Introduction. The difference between obstructive and non-obstructive azoospermia (OA and NOA) is important for the choice of treatment tactics and adequate counseling of a married couple.Objective. To describe, analyze, and classify possible challenges in differentiating between two types of azoospermiaMaterials and methods. The retrospective review of database on surgical sperm retrieval attempts performed our hospital (n = 754). A subpopulation of 216 patients who were preliminary diagnosed with OA, was selected for further analysis. All patients had testicular pathology data following sperm retrieval attempt. Rate of reclassification was assessed as a primary outcome. Reclassified cases were further analyzed to find a possible reason for incorrect differential diagnosis.Results. Among 216 patients with initially suspected OA, 131 (60.6%) had evidence of spermatogenic dysfunction on pathological examination of seminiferous tubules. Multivariate regression analysis showed that only regular exposure to high temperatures was an independent predictor of NOA detection in patients with normal endocrine and clinical parameters (OR = 1.989; 95% CI = 1.101 – 3.595). Analysis of the decision tree showed that patients with inhibin B levels below 93 pg/ml had the highest risk of an incorrect initial diagnosis (82.6%).Conclusions. Differential diagnosis of OA and NOA is not such a simple task. Any case of azoospermia against the background of normal semen volume by default should be considered as a case of NOA if there is no anamnestic or clinical data clearly indicating obstruction. Regular exposure to high temperature is likely to cause azoospermia in men with initially severe disorders of spermatogenesis. Finally, the reference values of inhibin B offered by most laboratories are not intended to assess reproductive function.

Pediatric Trigger Digit Presenting in the Setting of Trauma.

Pediatric trigger digit is a relatively rare condition with incompletely understood etiology. In our practice, we noted a series of children presenting with pediatric trigger digit after an associated local trauma to the hand, which has not been previously described. The aim of this study was to analyze the nature of presentation of trigger digits, the accuracy of initial diagnosis, and the impact on treatment strategies used. An institutional review board-approved retrospective review of our institution's experience with pediatric trigger finger from 2001 to 2015 was performed. Twenty-two patients with 26 affected digits were identified. Eighty-eight percent of patients were diagnosed with trigger thumb, whereas 3 patients (12%) had small finger triggering. Thirteen patients (59%) presented as outpatients, whereas 9 (41%) presented through the emergency department. All patients presenting to the emergency department were in the setting of recent minor trauma. Of this subset of patients, 67% had an incorrect initial diagnosis, leading to an average delay in treatment of 60 days. Ten patients (45% of total) were initially treated with immobilization versus surgical release of the A1 pulley. However, all but 2 of these patients required eventual A1 pulley release for persistent or recurrent triggering (88%). The cause of trigger digit in children remains incompletely understood and may be multifactorial. In this series, a traumatic component to presentation was found in a significant number of patients. This association with minor trauma may contribute to misdiagnosis and delay in definitive treatment. Although initial treatment with immobilization does not seem to impact surgical outcome, we found a high rate of failure with initial immobilization. Most patients required eventual surgical management, regardless of whether or not the initial presentation was associated with trauma. When performed, we found that A1 pulley release alone has safe, reliable results.

Narcolepsy: A clinical review.

Narcolepsy continues to be a significantly underdiagnosed/misdiagnosed condition worldwide. According to the National Institutes of Health (NIH), an estimated 135,000 to 200,000 patients in the United States are living with narcolepsy. However, due to the number of patients who either do not seek medical advice for their symptoms or receive an incorrect initial diagnosis at onset, this number may be higher. This article reviews the different subtypes of narcolepsy along with the pathophysiology, screening guidelines, clinical features, diagnosis, and management of the disorder. Educational awareness from a healthcare and patient standpoint can enhance early detection and accurate diagnosis of narcolepsy and improve patient quality of life.

Personalized Variable vs Fixed-Dose Systemic Corticosteroid Therapy in Hospitalized Patients With Acute Exacerbations of COPD: A Prospective, Multicenter, Randomized, Open-Label Clinical Trial

Systemic corticosteroids for the treatment of COPD exacerbations decrease treatment failure and shorten the length of hospitalization. However, the optimal dose is unclear. Is personalized-dose corticosteroid administered according to a dosing scale more effective than fixed-dose corticosteroid administration in hospitalized patients with COPD with exacerbations? This was a prospective, randomized, open-label trial. In-hospital patients with COPD with exacerbations were randomly assigned at a 1:1 ratio to either the fixed-dose group (receiving the equivalent of 40mg of prednisolone) or the personalized-dose group for 5days. The primary end point was a composite measure of treatment failure that included in-hospital treatment failure and medium-term (postdischarge) failure. Secondary end points were length of stay and cost. A total of 248 patients were randomly assigned to the fixed-dose group (n= 124) or personalized-dose group (n= 124). One patient in each group was not included in the intention-to-treat population because of incorrect initial COPD diagnosis. Failure of therapy occurred in 27.6%in the personalized-dose group, compared with 48.8%in the fixed-dose group (relative risk, 0.40; 95%CI, 0.24-0.68; P= .001). The in-hospital failure of therapy was significantly lower in the personalized-dose group (10.6%vs24.4%; P= .005), whereas the medium-term failure rate, adverse event rate, hospital length of stay, and costs were similar between the two groups. After treatment failure, a lower additional dose of corticosteroids and a shorter duration of treatment were needed in the personalized-dose group to achieve control of the exacerbation. In the personalized-dose cohort, those receiving 40mg or less had an average failure rate of 44.4%, compared with 22.9%among those receiving more than 40mg (P= .027). Personalized dosing of corticosteroids reduces the risk of failure because more patients were provided with a higher initial dose, especially > 60mg, whereas 40mg or less was too low in either group. ClinicalTrials.gov; No.: NCT02147015; URL: www.clinicaltrials.gov.

A retrospective collection of diagnostic data from the desmoid tumor research foundation natural history study.

e23549 Background: Desmoid tumors are a benign sarcoma diagnosed in 4-5 patients per million each year. The Desmoid Tumor Research Foundation (DTRF) launched the patient registry and natural history study (NHS) in 2017. This is a retrospective analysis of diagnostic data collected, tumor location, rates of misdiagnosis, how genetics testing is being incorporated into clinical practice, and additional clinical trial participation. Methods: The NHS launched September 2017 and contains 15 surveys covering diagnostics, disease, treatment, care management, and quality of life. Current reporting as of December 31, 2020, contains 619 participants or legally authorized representatives for which a subset have completed the surveys on desmoid tumor diagnoses. Results: Survey analysis documents that the most prevalent tumor locations were intra-abdominal 35.5% (220), joint / extremities 21.2% (131), and chest wall 14.7% (91). The majority of participants, 68.2%, reported that they had unifocal tumors (199/292), 19.5% reported that they had multifocal desmoid tumors (57). Biopsy procedures were the primary method of diagnosis according to 57.2% (167/292) of the participants, with needle biopsy comprising 19.8% (33/167). Biopsy as the primary method of diagnosis was most prevalent in tumors of the head and neck (18/26, 69.2%), chest wall (32/47, 68.1%) joint /extremities (50/90, 55.6%), and abdominal tumors (27/51, 52.9%). Additionally, imaging methods (CT, MRI) were the primary method of diagnosis in 22.6% (66/292) and surgical resection 14.4% (42/292). Misdiagnosis is common for this tumor type, as 41.0% (119/290) participants reported an incorrect initial diagnosis. The reported incorrect diagnoses are described in the table. Genetic testing is not standard of care for desmoid tumors but is increasing in practice. A total of 78 participants (28%) of 282 participants report they had genetic testing (germline or somatic) of their tumor tissue. The majority of those participants, 65.4% (51/78), reported having Familial Adenomatous Polyposis (FAP). Of the participants that had genetic testing, 89.0% live in the United States. 10.5% of participants (37/353) have reported having participated in clinical trials. The majority of participants (317/368, 86.1%) are willing to participate in other studies in the future, with 77.4% (285/368) willing to donate specimens for biomarker studies. Conclusions: Participants with desmoid tumors report many methods of diagnosis for their diverse tumor locations, high rates of misdiagnosis, and increased rates of genetic mutation testing. Data collection through the DTRF NHS is ongoing.[Table: see text]

Acute type A aortic dissection: Aortic Dissection Detection Risk Score in emergency care - surgical delay because of initial misdiagnosis.

Acute type A aortic dissection requires immediate surgical treatment, but the correct diagnosis is often delayed. This study aimed to analyse how initial misdiagnosis affected the time intervals before surgical treatment, symptoms associated with correct or incorrect initial diagnosis and the potential of the Aortic Dissection Detection Risk Score to improve the sensitivity of initial diagnosis. We conducted a retrospective analysis of 350 patients with acute type A aortic dissection. Patients were divided into two groups: initial misdiagnosis (group 0) and correct initial diagnosis of acute type A aortic dissection (group 1). Symptoms were analysed as predictors for the correct or incorrect initial diagnosis by multivariate analysis. Based on these findings, the Aortic Dissection Detection Risk Score was calculated retrospectively; a result ⩾2 was defined as a positive score. The early suspicion of aortic dissection significantly shortened the median time from pain to surgical correction from 8.6 h in patients with an initial misdiagnosis to 5.5 h in patients with the correct initial diagnosis (p<0.001). Of all acute type A aortic dissection patients, 49% had a positive Aortic Dissection Detection Risk Score. Of all initial misdiagnosed patients, 41% had a positive score (⩾2). The presence of lumbar pain (p<0.001), any paresis (p=0.037) and sweating (p=0.042) was more likely to lead to the correct initial diagnosis. An early consideration of acute aortic dissection may reduce the delay of surgical care. The suggested Aortic Dissection Detection Risk Score may be a useful tool to improve the preclinical assessment.

Follicular Dendritic Cell Sarcoma With Co-Expression of CD4 and CD30 Mimics Anaplastic Large Cell Lymphoma

Follicular dendritic cell sarcoma (FDCS) is a low-grade malignant neoplasm that tends to be under-recognized owing to its rarity and wide pathologic spectrum. Knowledge of the atypical morphology and immunophenotype of FDCS is critical to avoid misdiagnosis. Here we presented a case of extranodal FDCS with an unusual morphology and a previously unreported immunophenotype leading to misdiagnosis. A 32-years-old man presented with a tonsilar mass that showed epithelioid cells in nested and alveolar patterns. Immunohistochemistry study revealed that the tumor cells were positive for CD4 and CD30, and were negative for cytokeratin, CD3, CD20, CD68, CD163, lysozyme, ALK, S-100, and desmin. Multiple outside expert consultations rendered a consensus diagnosis of ALK-negative anaplastic large cell lymphoma (ALCL). The patient received multiple lines of chemotherapy and radiotherapy. However, the residual tumor progressively enlarged eight months later and a more complex morphology was presented in the re-excised tumor: including spindle cells with vesicular nuclei and nuclear pseudoinclusions in fascicles or a whorled pattern, and plump ovoid cells arranged in meningioma-like whorls as well as epithelioid tumor cells similar to the initial biopsy. All these three components were positive for CD4, CD21, CD23, and CD35. The diagnosis was revised to FDCS after a positive immunostaining for CD21, CD23, and CD35 on the initial specimen was confirmed retrospectively. A literature review identified 57 cases of FDCS published from 2009 through 2019, and 13 (22.8%) of them were misdiagnosed at initial presentation. Among these misdiagnosed cases, all except one case were extranodal, and the incorrect initial diagnosis was mostly location-related. These cases expand the pathologic spectrum of FDCS, and further emphasize the necessity for pathologists to stay alert for this rare entity, bringing FDCS into the differentials for any spindle cell tumors, undifferentiated epithelioid cell tumors, and ALCL to avoid misdiagnosis.