Delay In Diagnosis Of Patients Research Articles

Allergic Diseases as a Clinical Phenotype Marker in Patients with Common Variable Immunodeficiency

Introduction: Patients with common variable immunodeficiency (CVID) have been shown to be more predisposed to develop allergic diseases because of mucosal immune defects and immune dysregulation. The aim of this study was to determine the prevalence, and clinical and laboratory characteristics of various allergic diseases in patients with CVID. Methods: The study included patients aged ≥18 years who were followed up for a diagnosis of CVID. Patients were separated into 5 groups according to the clinical phenotypic characteristics of lymphoproliferation, autoimmunity, gastrointestinal diseases, allergic diseases, and malignancy. Atopic dermatitis (AD), drug hypersensitivity reaction (DHR), allergic rhinitis (AR), and asthma were accepted as allergic diseases. Results: The most commonly seen clinical phenotypes were lymphoproliferation in 41 (48.8%) patients and allergic diseases in 31 (37%). AD was determined in 2 (2.4%) patient, DHR in 5 (6%), AR in 7 (8.3%), and asthma in 21 (25%). The delay in diagnosis of patients with allergic disease was determined to be shorter compared to those without allergic disease (p = 0.042). Serum total immunoglobulin E level, CD19⁺ B cell, switched memory B cell, and natural killer cell counts were determined to be higher in the CVID patients with allergic disease compared to those without (p = 0.007, p = 0.022, p = 0.023, p = 0.017, respectively). Conclusion: Allergic diseases should be considered as a marker of clinical phenotype in CVID because of the clinical and immunological differences. Early diagnosis and treatment of allergic diseases in patients with CVID can improve quality of life.

Diagnostic delay in pulmonary blastomycosis: a case series reflecting a referral center experience.

The diagnosis of pulmonary blastomycosis is usually delayed because of its non-specific presentation. We aimed to assess the extent of diagnostic delay in hospitalized patients and detect the step in the diagnostic process that requires the most improvement. Adult patients diagnosed with pulmonary blastomycosis during a hospital admission between January 2010 through November 2021 were eligible for inclusion. Patients who did not have pulmonary involvement and who were diagnosed before admission were excluded. Demographics and comorbid conditions, specifics of disease presentation, and interventions were evaluated. The timing of the diagnosis, antifungal treatment, and patient outcomes were noted. Descriptive analytical tests were performed. A total of 43 patients were diagnosed with pulmonary blastomycosis during their admissions. The median age was 47years, with 13 (30%) females. Of all patients, 29 (67%) had isolated pulmonary infection, while 14 (33%) had disseminated disease, affecting mostly skin and musculoskeletal system. The median duration between the initial symptoms and health care encounters was 4 days, and the time to hospital admission was 9 days. The median duration from the initial symptoms to the diagnosis was 20days. Forty patients (93%) were treated with empirical antibacterials before a definitive diagnosis was made. In addition, corticosteroid treatment was empirically administered to 15 patients (35%) before the diagnosis, with indications such as suspicion of inflammatory processes or symptom relief. In 38 patients (88%), the first performed fungal diagnostic test was positive. Nineteen patients (44%) required admission to the intensive care unit, and 11 patients (26%) died during their hospital stay. There was a delay in diagnosis of patients with pulmonary blastomycosis, largely attributable to the lack of consideration of the etiological agent. Novel approaches to assist providers in recognizing the illness earlier and trigger evaluation are needed.

Factors associated with Patient Delay in Diagnosis of Tuberculosis at Tuberculosis Management Units, River Nile State, Sudan, 2019

Factors associated with Patient Delay in Diagnosis of Tuberculosis at Tuberculosis Management Units, River Nile State, Sudan, 2019

Delay in diagnosis of patients with head-and-neck cancer in Canada: impact of patient and provider delay.

Head-and-neck cancers (hncs) often present at an advanced stage, leading to poor outcomes. Late presentation might be attributable to patient delays (reluctance to seek treatment, for instance) or provider delays (misdiagnosis, prolonged wait time for consultation, for example). The objective of the present study was to examine the length and cause of such delays in a Canadian universal health care setting. Patients presenting for the first time to the hnc multidisciplinary team (mdt) with a biopsy-proven hnc were recruited to this study. Patients completed a survey querying initial symptom presentation, their previous medical appointments, and length of time between appointments. Clinical and demographic data were collected for all patients. The average time for patients to have their first appointment at the mdt clinic was 15.1 months, consisting of 3.9 months for patients to see a health care provider (hcp) for the first time since symptom onset and 10.7 months from first hcp appointment to the mdt clinic. Patients saw an average of 3 hcps before the mdt clinic visit (range: 1-7). No significant differences in time to presentation were found based on stage at presentation or anatomic site. At our tertiary care cancer centre, a patient's clinical pathway to being seen at the mdt clinic shows significant delays, particularly in the time from the first hcp visit to mdt referral. Possible methods to mitigate delay include education about hnc for patients and providers alike, and a more streamlined referral system.

Primary care physician perspectives on barriers to diagnosing axial Spondyloarthritis: a qualitative study

BackgroundThe average delay in diagnosis for patients with axial spondyloarthritis (axSpA) is 7 to 10 years. Factors that contribute to this delay are multifactorial and include the lack of diagnostic criteria (although classification criteria exist) for axSpA and the difficulty in distinguishing inflammatory back pain, a key symptom of axSpA, from other highly prevalent forms of low back pain. We sought to describe reasons for diagnostic delay for axSpA provided by primary care physicians.MethodsWe conducted a qualitative research study which included 18 US primary care physicians, balanced by gender. Physicians provided informed consent to participate in an in-depth interview (< 60 min), conducted in person (n = 3) or over the phone (n = 15), in 2019. The analysis focuses on thoughts about factors contributing to diagnostic delay in axSpA.ResultsPhysicians noted that the disease characteristics contributing to diagnostic delay include: back pain is common and axSpA is less prevalent, slow progression of axSpA, intermittent nature of axSpA pain, and in the absence of abnormal radiographs of the spine or sacroiliac joints, there is no definitive test for axSpA. Patient characteristics believed to contribute to diagnostic delay included having multiple conditions in need of attention, infrequent interactions with the health care system, and “doctor shopping.” Doctors noted that patients wait until the last moments of the clinical encounter to discuss back pain. Problematic physician characteristics included lack of rapport with patients, lack of setting appropriate expectations, and attribution of back pain to other factors. Structural/system issues included short appointments, lack of continuity of care, insufficient insurance coverage for tests, lack of back pain clinics, and a shortage of rheumatologists.ConclusionPrimary care physicians agreed that lengthy axSpA diagnosis delays are challenging to address owing to the multifactorial causes (e.g., disease characteristics, patient characteristics, lack of definitive tests, system factors).

COVID-19 outbreak and pediatric diabetes: Perceptions of health care professionals worldwide.

BackgroundCoronavirus diasease (COVID‐19) is an infectious disease that started in Wuhan, China in late 2019 and later spread around the world. Diabetes has been recognized as a possible risk factor for COVID‐19 complications.ObjectiveInternational Society for Pediatric and Adolescent Diabetes (ISPAD) investigated perceptions, challenges and experience of health care professionals (HCP) taking care of children and young people with diabetes worldwide during COVID‐19 pandemic.MethodsFrom 21st April to 17th May 2020, during COVID‐19 pandemic, a web‐based survey was sent to ISPAD members and former participants of ISPAD conferences by email.ResultsResponders from 215 diabetes centers from 75 countries completed the survey. Majority were from UK (35; 16.3%), USA (20; 9.3%), and India (15; 7%). HCP were mostly pediatric endocrinologists (64%). During COVID‐19 pandemic, 16.5% of responders continued face‐to‐face consultation while most changed to telephone (32%) or video (18%) consultations. 19% reported a shortage of medical supplies. 22% reported a delay in diagnosis of patients with new‐onset diabetes, while 15% reported a higher incidence of DKA. 12% reported having one or more patients with COVID‐19. Most of the 86 children and adolescents with diabetes and COVID‐19 had only mild/moderate symptoms, while 5 required admission to an intensive care unit. No deaths were reported.ConclusionsThis large global survey during COVID‐19 pandemic showed that many HCP adapted to the pandemic by resorting to telemedicine. One fourth of HCP reported delays in diagnosis and an increased rate of DKA. The emergence of COVID‐19 pandemic had an important impact on family's behavior that might have led to increase in diabetic ketoacidosis presentation.

An Institutional Retrospective Study on Recognizing the Delay in Multiple Myeloma Diagnosis

Background Multiple myeloma (MM) is the abnormal proliferation of plasma cells in the bone marrow often resulting in debilitating symptoms ranging from ostealgia to pathological fractures from bone destruction. According to American Cancer Society, MM accounts for 1-2% of cancers and approximately 17% of hematological malignancies in the United States each year (1). Fifty percent of patients with symptomatic MM have three or more primary care visits before they are referred to a specialist, which is greater than any other cancer (5). It has been shown that a delay in diagnosing multiple myeloma negatively impacts the clinical course of the disease and hence the outcome in patients (2). Patients with longer diagnostic intervals also experience shorter disease free survival and more complications from treatment (4). Herein, a retrospective analysis was performed to determine the average delay in diagnosis of MM. Methods This is a retrospective electronic chart review of all indexed newly diagnosed MM cases between 1/1/2014 through 12/31/2018 at New York-Presbyterian Brooklyn Methodist Hospital (NYP BHM). NYP BMH is a Weill Cornell Medical College-affiliated hospital in Brooklyn, NY whose patient population includes those with private insurance, uninsured and Medicare/Medicaid. Data abstraction from the electronic medical record (EMR) was uniform and involved baseline characteristics such as age, gender and race. International Classification of Diseases (ICD)-10-CM code (C90.00) was used for extraction of data which identified 492 patients. After excluding patients with MGUS or a prior diagnosis of multiple myeloma, 104 patients were included in the final study. We calculated the number of days between the date of first abnormal laboratory value seen on bloodwork for a myeloma related sign (at least 90 days prior to diagnosis) to the date of bone marrow biopsy that confirmed the diagnosis. The inclusion criteria were anemia defined as hemoglobin &amp;lt;12gm/dl, Hypercalcemia defined by corrected calcium &amp;gt;10, kidney dysfunction with a creatinine &amp;gt;1.5 and total protein &amp;gt;8. Results Of the 104 patients with newly diagnosed MM, 69 patients were diagnosed within 90 days of the first abnormal lab value recorded in our electronic medical record (EMR). Thirty-five patients (34%) had a delay in diagnosis at least 90 days with a mean delay of 38 months. Isolated anemia was the most common abnormal lab finding with 29/104 (28%) having documented anemia at least 90 days prior to diagnosis of myeloma. The mean delay in diagnosis for patients with anemia was 41 months. There were four patients with anemia and elevated creatinine with an average delay of 23 months. Five patients had anemia and elevated calcium with an average delay of 21 months. Nine patients had anemia and elevated total protein with an average delay of 38 months. Conclusion: In the current era where we have effective therapies for MM it is now more important than ever to avoid a delay in diagnosis. We demonstrate that 34% of patients receiving care at an Urban Teaching Hospital had at least a 90 day delay in their diagnosis of MM. Our cohort consisted of 64% African Americans, suggesting that minorities are more commonly affected by this. There is a need for more awareness amongst clinicians to consider the diagnosis of MM in the workup of anemia.

Determinants of Patient Delay in Diagnosis of Pulmonary Tuberculosis in Somali Pastoralist Setting of Ethiopia: A Matched Case-Control Study.

Background: Healthcare-seeking behavior is the basis to ensure early diagnosis and treatment of tuberculosis (TB) in settings where most cases are diagnosed upon self-presentation to health facilities. Yet, many patients seek delayed healthcare. Thus, we aimed to identify the determinants of patient delay in diagnosis of pulmonary TB in Somali pastoralist area, Ethiopia. Methods: A matched case-control study was conducted between December 2017 and October 2018. Cases were self-presented and newly diagnosed pulmonary TB patients aged ≥ 15 years who delayed > 30 days without healthcare provider consultation, and controls were patients with similar inclusion criteria but who consulted a healthcare provider within 30 days of illness; 216 cases sex-matched with 226 controls were interviewed using a pre-tested questionnaire. Hierarchical analysis was done using conditional logistic regression. Results: After multilevel analysis, pastoralism, rural residence, poor knowledge of TB symptoms and expectation of self-healing were individual-related determinants. Mild-disease and manifesting a single symptom were disease-related, and >1 h walking distance to nearest facility and care-seeking from traditional/religious healers were health system-related determinants of patient delay > 30 days [p < 0.05]. Conclusion: Expansion of TB services, mobile screening services, and arming community figures to identify and link presumptive cases can be effective strategies to improve case detection in pastoral settings.

A302 INAPPROPRIATE REFERRALS FOR VIDEO FLUOROSCOPIC SWALLOWING STUDIES; DEFINING THE SCOPE OF THE PROBLEM

Background The first step in assessment of dysphagia is determining if it is oropharyngeal or esophageal in origin. Over half of patients with esophageal dysphagia will relate the sensation of food sticking to the cervical area. The timing of the dysphagia and associated symptoms are useful in differentiating between oropharyngeal and esophageal dysphagia with proximal referral. Unfortunately, many physicians are unaware that esophageal dysphagia is commonly sensed in the cervical area and this can lead to inappropriate referrals for videofluoroscopic swallowing studies (VFSS) by Speech Language Pathology (SLP). In our institution, a number of patients referred are found to have predominantly esophageal type dysphagia. This has contributed to long wait times for an SLP assessment and a delay in diagnosis of patients with esophageal dysphagia. The full scope of the problem remains unclear.

TCT-627 Electrocardiographic parameters, peak of cardiac markers and diagnosis delay in patients with acute left circumflex occlusion

TCT-627 Electrocardiographic parameters, peak of cardiac markers and diagnosis delay in patients with acute left circumflex occlusion

Delay in Diagnosis of Celiac Disease in Patients Without Gastrointestinal Complaints

PurposeThe purpose of our study is to investigate the delay in diagnosis of patients with biopsy-proven celiac disease in those who present with gastrointestinal complaints vs nongastrointestinal complaints at our tertiary care center. Celiac disease is an autoimmune disorder that affects approximately 1% of the population worldwide. Celiac disease can have variable clinical presentations; it can be characterized by predominately gastrointestinal symptoms, or it may present without any gastrointestinal symptoms. MethodsWe retrospectively reviewed the charts of 687 adult patients who carried the diagnosis of celiac disease. Patients included had biopsy-proven celiac disease and were categorized based on presence or absence of gastrointestinal symptoms prior to their diagnosis. ResultsThere were 101 patients with biopsy-proven celiac disease that met inclusion criteria. Fifty-two patients presented with gastrointestinal symptoms and 49 had nongastrointestinal complaints. Results from Mann-Whitney statistical analysis showed a median delay in diagnosis of 2.3 months for the gastrointestinal symptoms group and 42 months for the nongastrointestinal group (P <.001); 43.2% of patients with nongastrointestinal symptoms had abnormal thyroid-stimulating hormone, as opposed to 15.5% in the gastrointestinal symptom group (P = .004). Of patients with nongastrointestinal symptoms, 69.4% had anemia, compared with 11.5% of the gastrointestinal symptom group (P <.001). The majority of patients in the nongastrointestinal symptom group, 68%, were noted to have abnormal bone density scans, compared with 41% in the gastrointestinal symptom group. No sex differences were noted on chi-squared analysis between the 2 groups (P = .997). ConclusionsAlthough there is growing awareness of celiac disease, the delay in diagnosis for patients without gastrointestinal symptoms remains prolonged, with an average delay of 3.5 years.

Factors Contributing to the Delay in Diagnosis and Continued Transmission of Leprosy in Brazil--An Explorative, Quantitative, Questionnaire Based Study.

BackgroundLeprosy is a leading cause of preventable disability worldwide. Delay in diagnosis of patients augments the transmission of infection, and allows progression of disease and more severe disability. Delays in diagnosis greater than ten years have been reported in Brazil. To reduce this delay, it is important to identify factors that hinder patients from presenting to doctors, and those that delay doctors from diagnosing patients once they have presented. This study aimed to explore factors associated with the delayed diagnosis of leprosy in Brazil.Methodology/ Principal FindingsThis is an exploratory study using a self-constructed questionnaire delivered to patients attending three leprosy referral clinics across three states in Brazil. Data were analysed to determine associations between variables and the time taken for participants to present to the health-service, and between variables and the time taken for doctors to diagnose participants once they had presented. Participants who suspected they had leprosy but feared community isolation were 10 times more likely to wait longer before consulting a doctor for their symptoms (OR 10.37, 95% CI 2.18–49.45, p = 0.003). Participants who thought their symptoms were not serious had a threefold greater chance of waiting longer before consulting than those who did (OR 3.114, 95% CI 1.235–7.856, p = 0.016). Forty-two point six per cent of participants reported initially receiving a diagnosis besides leprosy. These had a three times greater chance of receiving a later diagnosis of leprosy compared to those not misdiagnosed or not given a diagnosis (OR 2.867, 95% CI 1.288–6.384, p = 0.010).Conclusions/ SignificanceThis study implies a need for patient education regarding leprosy symptoms and the reduction of stigma to encourage patients to present. The high rate of misdiagnosis reported suggests a need to increase clinician suspicion of leprosy. Further education regarding disease symptoms in medical school curriculums may be advisable.

Pulmonary complications in primary hypogammaglobulinemia: a survey by high resolution CT scan

Primary hypogammaglobulinemia disorders are a group of heterogeneous immunodeficiency syndromes with an increased susceptibility to pulmonary complications. The aim of this study was to evaluate the extent of lung abnormalities in primary hypogammaglobulinaemic patients by high resolution computed tomography (HRCT) scan and pulmonary function test (PFT). HRCT and PFT were performed in 22 Iranian patients with primary hypogammaglobulinemia. Pathological bronchial findings were observed in thirteen patients: three patients showed only peribronchial thickening and the remaining ten patients suffered from both bronchiectasis and peribronchial wall thickening. Mild type of bronchiectasis and peribronchial wall thickening were the most common type, predominantly observed in the right middle and both right and left lower lobe segments of lungs. Although bullae were not found, emphysema, air-trapping, and collapse/consolidation were observed in two patients. Bronchial involvement was mostly limited to 1 up to 5 bronchopulmonary segments; only one HRCT indicated bronchial involvement in more than nine bronchopulmonary segments. Pathological bronchial findings mostly observed in the proximal bronchi; meanwhile the involvement of the distal bronchi was less common. Decreasing FEVI and FVC were observed in 65% and 55% of patients, respectively. There was a significant correlation between the HRCT score and the predicted values by PFT. The delay of diagnosis in patients with bronchiectasis was significantly higher than those without bronchiectasis. It seems that the majority of hypogammaglobulinaemic patients suffer from the mild type of bronchiectasis, which is mostly observed in the proximal bronchi of the lower lobe segments. The delay of diagnosis plays an important role in the occurrence of this complication in these patients.

How long is the diagnosis of Familial Mediterranean Fever (FMF) delayed in a region where FMF is common in Turkey?

Background and question Similar to other autoinflammatory diseases, diagnosis of FMF is often missed and markedly delayed, particularly when its prevalance is very low in a community. It’s reported that diagnosis of FMF might be delayed more than 20 years. Although Turkey is one of the countries with a high prevalence of FMF, the diagnosis of the disease is markedly delayed in clinical practice. In this study, we aimed to investigate the delay of diagnosis in patients followed up due to, or new diagnosed with FMF in the newly established Rheumatology Unit of a big tertiary medical center located in Corum region. Corum province is one of the region where FMF is very common in Turkey.

AB0735 Diagnostic Delay Worsens Mobility and Work Disability in Ankylosing Spondylitis

BackgroundDiagnostic delay (DD) in Ankylosing Spondylitis (AS) remains a challenge, averaging 8.6 years1. Chronic back pain comprises 2.6million GP consultations per year, of which 5% have AS2. Identifying this “needle...

Ankylosing spondylitis in iran; late diagnosis and its causes.

Background:Ankylosing spondylitis (AS) is a chronic destructive and inflammatory disease of the axial skeleton manifested by back pain and progressive stiffness of the spine.Objectives:The aim of the present cross-sectional study was to evaluate and identify factors leading to delayed diagnosis of AS in Iranian patients.Patients and Methods:Sixty patients, (53 males, 7 females) with a diagnosis of AS according to the modified New York criteria were recruited. Diagnosis delay was defined as the interval between a patient’s first spondyloarthritic symptoms [inflammatory back pain (IBP), inflammatory arthritis, enthesopathy and uveitis] and a correct diagnosis of AS.Results:The average age of patients at diagnosis of AS was 36.4 ± 4.5 years and the average of delay in diagnosis was 6.2 ± 3.5 years. The most common diagnosis at the first visit was disc herniation (68.3%). Delay in diagnosis of Human Leukocyte Antigen (HLA-B27) positive and negative patients were 4.6 ± 2.2 years and 10.1 ± 3.2 years, respectively (P = 0.0001). Diagnosis delay in patients with morning stiffness and IBP were significantly shorter than that of patients without these symptoms (P = 0.0001 and P = 0.001, respectively). Patients with uveitis had the shortest diagnosis delay (P = 0.02). The Bath Ankylosing spondylitis disease activity index (BASDAI) was not significantly different in early (< 3years) and late (> 3years) diagnosis (3.3 ± 0.9 and 3.6 ± 0.7, respectively) (P = 0.18), but the Both ankylosing spondylitis functional index (BASFI) was significantly different between them (3.3 ± 1.0 and 4.1 ± 0.7 respectively) (P = 0.001).Conclusions:In this study, delay in diagnosis was similar to other studies. Educating physicians to careful history taking especially in the case of IBP, non-musculoskeletal symptoms such as uveitis and precise physical examination are important in early diagnosis.

Epileptic Seizures Related to Cerebral Venous Sinus Thrombosis: Clinicoradiological Findings and Cases of Delayed Diagnosis.

Summary Objectives: We aimed to describe clinicoradiological findings and determine some causes of misdiagnosis or delay in diagnosis of patients with epileptic seizures and status epilepticus related to cerebral venous sinus thrombosis. Methods: Nine patients with seizures or status epilepticus associated with cerebral venous sinus thrombosis, admitted to the intensive care unit between November 2012 and November 2013, were included in the study. Full neurological and ophthalmological examinations, electroencephalography, computerized tomography, magnetic resonance imaging and magnetic resonance venography were performed on all of the patients. Also, previous history of neuropsychiatric disorders, initial findings of cerebral venous sinus thrombosis, specialties, where they were initially directed, and treatment interventions were recorded. Results: The main initial clinical symptom was headache in all patients. All patients had a sub-acute progression of disease. Five patients had convulsive, one had non-convulsive status epilepticus. Six patients had presenting seizures (i.e., seizures occurred before confirmation of diagnosis). The superior sagittal sinus was affected in all cases, except in patients 5 and 6. Initial diagnoses in some patients were eclampsia, dissociative disorder, subarachnoid hemorrhage, migraine, and psychotic disorder. Conclusion: Different clinical presentations of cerebral venous sinus thrombosis and the need for differential diagnosis with respect to similar neuropsychiatric diseases often cause the delay of early diagnosis and treatment of cerebral venous sinus thrombosis, and thus lead to

Reasons for Patient's Delay in Diagnosis of Breast Carcinoma in Pakistan

Delay in diagnosis of breast cancer is associated with a poorer survival and a pivotal contribution to this delayed diagnosis comes from patient delay in presenting at a clinic. Reasons involved must be evaluated in order to decrease this reducible delay. i) To evaluate the reasons for patient delay in diagnosis of breast cancer; ii) to investigate any association with other variables. A 6 month cross sectional study (from July 2012 to Dec 2012), was carried out in Surgical and Oncology Units of Civil Hospital, Karachi. A total of 100 females diagnosed with breast cancer of any histological type were interviewed after informed consent and relevant data were collected. Due ethical clearance was obtained. Mean age was 47.5±12.1 years with a range from 25-77 years. Mean duration of delay was 5.13±4.8 months, from shortest 1 month to longest 36 months. Duration of delay was observed to be no delay (<1 month) in 28%, short delay (1-3 months) in 30% and long delay (>3 months) in 42% of patients. Considering the symptoms as "harmless" (39%) was the most frequent reason of delay followed by "temporary" (20%) and the "use of traditional methods" (12%). Most common reason for later approaches was an increase in the size of the lump (41%). Statistically significant association (p-value <0.05) of longer patient delay was obtained with being single, being illiterate, painless breast lump as the first symptom, negative family history of breast cancer and vague attribution of the symptoms. Significant delay in approach to health care facility was observed in our study due to variable reasons given by women. Sufficient awareness regarding breast cancer, its symptoms and favorable effects of a timely diagnosis on prognosis must be imparted to our general population.

Large Tumoral Calcinosis in The Gluteal Region: A Case Report

BACKGROUND. Tumoral calcinosis is a poorly understood phenomenon. It can be described as a syndrome of calcium deposits principally affecting the juxta-articular areas. It is a rare entity that has been poorly understood. Our aim is to highlight a special and unusual case of an 11-year-old with a large, relatively painless lump in her buttock. CLINICAL CASE. An 11-year-old girl of African descent presented to our Bone Tumour Unit after being referred by her local hospital. The girl presented with a large lump on the posterolateral aspect of the right buttock, measuring 15cm in diameter. Due to the delay in referral/diagnosis, tethering of the skin had progressed to necrosis, with a sinus discharging milky-white fluid. A MRI scan further characterised the lump as a densely calcified area within the gluteus maximus, extending to the subcutaneous tissue. The characteristic features of the calcified mass on the images led to the diagnosis of tumoral calcinosis. Laboratory test did not demonstrate any metabolic disturbances. Pathology reports further confirmed the diagnosis and the lump was successfully resected. There were no recurrences on follow-up. CONCLUSION. Several cases of tumoral calcinosis have been described in the literature; however, it remains a rare entity. Being aware of the possibility and having knowledge of tumoral calcinosis is paramount in preventing confusion and delay in diagnosis for patients and clinicians.

Diagnostic Features, Treatment, and Outcomes of Takayasu Arteritis in a US Cohort of 126 Patients

ObjectiveTo describe the clinical features, treatment, and outcomes in a longitudinal cohort of patients with Takayasu arteritis (TAK). Patients and MethodsWe retrospectively studied patients with newly diagnosed TAK evaluated from January 1, 1984, through December 31, 2009. ResultsThe cohort included 126 patients who were predominantly white (85/103; 82.5%) and female (115/126; 91%). The median age at diagnosis was 31.6 years (interquartile range, 22.9-39.8 years). Median delay in diagnosis was 17.5 months (interquartile range, 7-41.8 months). Thirty-one patients (25%) were 40 years or older at diagnosis. Median delay in diagnosis for patients 40 years or older was 44.8 months compared with 28.3 months for those younger than 40 years (P<.001). Limb claudication was the presenting symptom in 64 of 123 patients (52%). Hata type V arteriographic abnormalities were the most common (57/100; 57%). Renal artery abnormalities were observed in 24 of 41 patients (58%) with new-onset hypertension. Inflammatory markers were elevated at diagnosis in 85 of 119 patients (71%). Vascular interventions were performed in 69 patients (55%). Seventy-nine patients (63%) were followed up for more than 1 year (median follow-up, 5.5 years; interquartile range, 2.9-10.0 years). In this subset, treatment consisted of corticosteroids in 73 patients (92%) and additional immunosuppressants in 52 patients (66%). At 5 years, 96% experienced at least one remission of any duration. The overall survival was 97% at 10 years and 86% at 15 years. Mortality was increased compared with the general population (standardized mortality ratio, 3.0; 95% CI, 1.0-8.9). ConclusionThere continues to be an unacceptably long delay in the diagnosis of TAK. Awareness of TAK in patients older than 40 years is needed. Morbidity was high despite immunosuppressive treatment. Survival was decreased in this cohort.