High Rate Of Misdiagnosis Research Articles

A Case of Pulmonary Nocardiosis Presenting with Multiple Cavitary Nodules in a Patient with Thrombocytopenia

Nocardiosis is an infrequent opportunistic infection that deserves more attention because of its increasing morbidity and high rate of misdiagnosis. Clinical and radiological manifestations as well as antibiograms of pulmonary nocardiosis are diverse. Herein, we report a patient with idiopathic thrombocytopenia treated with glucocorticoids, which later presented with severe pulmonary infection with widely distributed nodules on chest computed tomography. Fungal infection or tuberculosis was under initial suspicion and microbiological tests of bronchoalveolar lavage fluid eventually yielded an affirmative result of Nocardia cyriacigeorgica. The patient responded in the beginning; however, therapeutic strategies had to be altered several times due to adverse events. The patient eventually ended up with radiographic resolution at the end of six months. We wish to share some experience in dealing with this disease especially recognizing pulmonary nocardiosis in computed tomography imaging.

Recent advances in diagnosis and treatment of gastroenteropancreatic neuroendocrine neoplasms.

Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are a rare group of tumors originating from neuroendocrine cells of the digestive system. Their incidence has increased over the last decades. The specific pathogenetic mechanisms underlying GEP-NEN development have not been completely revealed. Unfunctional GEP-NENs are usually asymptomatic; some grow slowly and thus impede early diagnosis, which ultimately results in a high rate of misdiagnosis. Therefore, many GEP-NEN patients present with later staged tumors. Motivated hereby, research attention for diagnosis and treatment for GEP-NENs increased in recent years. The result of which is great progress in clinical diagnosis and treatment. According to the most recent clinical guidelines, improved grading standards can accurately define poorly differentiated grade 3 neuroendocrine tumors and neuroendocrine carcinomas (NECs), which are subclassified into large and small cell NECs. Combining different functional imaging methods facilitates precise diagnosis. The expression of somatostatin receptors helps to predict prognosis. Genetic analyses of mutations affecting death domain associated protein (DAXX), multiple endocrine neoplasia type 1 (MEN 1), alpha thalassemia/intellectual disability syndrome X-linked (ATRX), retinoblastoma transcriptional corepressor 1 (RB 1), and mothers against decapentaplegic homolog 4 (SMAD 4) help distinguishing grade 3 NENs from poorly differentiated NECs. The aim of this review is to summarize the latest research progress on diagnosis and treatment of GEP-NENs.

Retrospective analysis of 9 cases of appendiceal mucocele in 3,071 cases of appendicitis

Appendiceal mucocele is a rare disease. Due to the lack of specific clinical symptoms, and the high misdiagnosis rate before operation, in the present study, the clinical data were assessed to determine a potential basis for the diagnosis and treatment of appendiceal mucocele. The clinical data of 3,071 patients with appendicitis admitted between January 2014 and July 2021, including 9 patients with appendiceal mucoceles were retrospectively analyzed. The data were retrieved from the hospital records and included the patients' age, sex, leukocyte counts (measured in the peripheral venous blood sample), the surgical methods, the pathological results and the postoperative follow-up information. Among the 3,071 patients with appendicitis, 9 cases were appendiceal mucocele. These 9 were treated by laparoscopic surgery in 6 cases (2 laparoscopic appendectomy, 2 laparoscopic partial cecectomy plus appendectomy, and 2 laparoscopic right hemicolectomy) and laparotomy in 3 cases (partial cecectomy plus appendectomy). Pathological examination was performed on the surgically resected specimens of all patients. The results showed that 7 cases were appendiceal mucoceles, and 2 cases were low-grade appendiceal mucoceles. During the follow-up after surgery, one patient with exploratory laparotomy plus partial cecectomy and appendectomy was pathologically diagnosed with low-grade appendiceal myxoma. The patient developed peritoneal implants appeared 2 years later, and the remaining patients are still alive, without any postoperative complications or obvious signs of recurrence. Appendiceal mucocele is a disease that usually causes clinical manifestations of acute appendicitis. Ultrasound and CT scans can be used for preoperative diagnosis. The surgical treatment options for mucoceles are open or laparoscopic appendectomy, cecectomy, and right hemicolectomy. Although the incidence of appendiceal mucocele is low, special attention should be paid to surgery due to its predisposition to peritoneal implantation and metastasis. Laparoscopic appendectomy with partial cecectomy is not a difficult procedure and is not likely to cause abdominal implantation metastasis, thus it should be the preferred surgical method. When conditions permit, intraoperative rapid cryotherapy can quickly identify the occurrence of malignant tumors.

Misdiagnosis of Pediatric Concussions in the Emergency Department: A Retrospective Study.

We aimed to determine the rate and predictors of correctly diagnosed concussions in the pediatric emergency department and to describe the characteristics, presentation, and management of concussions in children presenting for minor head injury. We included 186 patients aged 5 to 18 years presenting within 24 hours of minor head injuries and met our diagnostic criteria for concussion. We compared patients correctly diagnosed with a concussion with those who were not. Our main outcome was the rate and predictors of misdiagnoses. Of the patients, 5.4% were correctly diagnosed. Amnesia was the only variable associated with correct diagnoses (40.0% vs 10.2%, P = 0.02). The most common mechanism of injury was fall (8.4%); the most frequent symptoms were nausea/vomiting (42.5%), and 48.4% had a brain computed tomography scan done. The high rate of concussion misdiagnosis puts into question the usability of current concussion guidelines, their accuracy, and barriers to translation into clinical practice.

Early warning prevention and control strategies to reduce perioperative venous thromboembolism in patients with gastrointestinal cancer.

BACKGROUNDVenous thromboembolism (VTE) is a major cause of unexpected and perioperative in-hospital deaths. It is characterized by high morbidity, high mortality, high misdiagnosis rate, and high missed diagnosis rates. VTE is a common postoperative complication in cancer patients. VTE is preventable, and early identification of risk factors leading to VTE and appropriate early preventive actions can reduce its occurrence and mortality. Presently, there is no uniform standard for the prevention and control of VTE in clinical practice, and hospitals in China lack mature and effective protocols for the assessment, prevention, and treatment of VTE.AIMTo explore whether an early warning program could influence the occurrence of deep vein thrombosis (DVT) postoperatively.METHODSThis is a comparative retrospective cohort study, which enrolled patients who underwent laparotomic or laparoscopic gastrointestinal tumor resection for gastrointestinal cancer between January 2016 and December 2019. Patients were divided into a control group and an early warning group depending on whether or not the early warning program was implemented. A venous thromboembolism prevention and control team was established. The outcomes included the occurrence of DVT, the correct rate of VTE assessment, the coagulation indicators, and the mastery of VTE knowledge by the nurses.RESULTSA total of 264 patients were included in this study, with 128 patients in the control group and 136 patients in the early warning group. The occurrence rate of DVT in the early warning group was 6.6% (9/136), compared with 14.1% (18/128) in the control group (P < 0.05). The correct rates of VTE risk assessment by the nurses and standard implementation rate of VTE preventive measures were 86.8% vs 65.6% and 80.2% vs 57.8% in early warning and control groups, respectively (all P < 0.001). The independent factors associated with postoperative DVT occurrence were age (OR = 1.083, 95%CI: 1.070-3.265, P = 0.032), Hyperlipidemia (OR = 1.127, 95%CI: 1.139-2.564, P = 0.042), preoperative high VTE risk (OR = 2.131, 95%CI: 1.085-5.178, P = 0.001), time of operation (OR = 2.268, 95%CI: 2.005-5.546, P = 0.026) and not adoption of early warning prevention (OR = 3.747, 95%CI: 1.523-6.956, P = 0.017).CONCLUSIONThe early warning strategy was independently associated with the decreasing occurrence of VTE, and it might be suitable for protection from VTE in patients undergoing gastrointestinal cancer surgery.

Novel Potential Diagnostic Serum Biomarkers of Metabolomics in Osteoarticular Tuberculosis Patients: A Preliminary Study.

Osteoarticular tuberculosis is one of the extrapulmonary tuberculosis, which is mainly caused by direct infection of Mycobacterium tuberculosis or secondary infection of tuberculosis in other parts. Due to the low specificity of the current detection method, it is leading to a high misdiagnosis rate and subsequently affecting the follow-up treatment and prognosis. Metabolomics is mainly used to study the changes of the body’s metabolites in different states, so it can serve as an important means in the discovery of disease-related metabolic biomarkers and the corresponding mechanism research. Liquid chromatography tandem mass spectrometry (LC-MS/MS) was used to detect and analyze metabolites in the serum with osteoarticular tuberculosis patients, disease controls, and healthy controls to find novel metabolic biomarkers that could be used in the diagnosis of osteoarticular tuberculosis. Our results showed that 68 differential metabolites (p<0.05, fold change>1.0) were obtained in osteoarticular tuberculosis serum after statistical analysis. Then, through the evaluation of diagnostic efficacy, PC[o-16:1(9Z)/18:0], PC[20:4(8Z,11Z,14Z,17Z)/18:0], PC[18:0/22:5(4Z,7Z,10Z,13Z,16Z)], SM(d18:1/20:0), and SM[d18:1/18:1(11Z)] were found as potential biomarkers with high diagnostic efficacy. Using bioinformatics analysis, we further found that these metabolites share many lipid metabolic signaling pathways, such as choline metabolism, sphingolipid signaling, retrograde endocannabinoid signaling, and sphingolipid and glycerophospholipid metabolism; these results suggest that lipid metabolism plays an important role in the pathological process of tuberculosis. This study can provide certain reference value for the study of metabolic biomarkers of osteoarticular tuberculosis and the mechanism of lipid metabolism in osteoarticular tuberculosis and even other tuberculosis diseases.

Endocrine mucin-producing sweat gland carcinoma: a systematic review and meta-analysis

Background Endocrine mucin-producing sweat gland carcinoma is a rare, under-reported cutaneous adnexal tumor that is often misdiagnosed and has an unknown incidence of metastasis. Objective To determine the incidence of metastasis and tumor recurrence, as well as diagnostic accuracy and current trends in treatment modality. Methods A search was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Tumor pathology and clinical data concerning demographics, presentation, diagnosis, treatment and follow-up were assessed. Results A total of 36 publications with 110 cases were identified. Initial pathological diagnosis was incorrect in 45.5% of cases. One case of metastatic disease was reported. The incidence of locoregional recurrence was 10.6% over a mean follow-up period of 21.3 months. Of cases with known methods of resection, 34.6% were resected by excisional biopsy, 42.8% were resected by wide surgical excision, and 31.3% were cleared by Mohs micrographic surgery. Limitations The low reported incidence and level of evidence was suboptimal with only case reports and retrospective case studies being reported. Conclusion Reported cases of this pathology demonstrate poor diagnostic accuracy. High rates of misdiagnosis and inadequate definitive treatment suggest the need for more comprehensive work-up and management of lesions suspicious for this pathology.

Indicators and criteria of consciousness: ethical implications for the care of behaviourally unresponsive patients

BackgroundAssessing consciousness in other subjects, particularly in non-verbal and behaviourally disabled subjects (e.g., patients with disorders of consciousness), is notoriously challenging but increasingly urgent. The high rate of misdiagnosis among disorders of consciousness raises the need for new perspectives in order to inspire new technical and clinical approaches.Main bodyWe take as a starting point a recently introduced list of operational indicators of consciousness that facilitates its recognition in challenging cases like non-human animals and Artificial Intelligence to explore their relevance to disorders of consciousness and their potential ethical impact on the diagnosis and healthcare of relevant patients. Indicators of consciousness mean particular capacities that can be deduced from observing the behaviour or cognitive performance of the subject in question (or from neural correlates of such performance) and that do not define a hard threshold in deciding about the presence of consciousness, but can be used to infer a graded measure based on the consistency amongst the different indicators. The indicators of consciousness under consideration offer a potential useful strategy for identifying and assessing residual consciousness in patients with disorders of consciousness, setting the theoretical stage for an operationalization and quantification of relevant brain activity.ConclusionsOur heuristic analysis supports the conclusion that the application of the identified indicators of consciousness to its disorders will likely inspire new strategies for assessing three very urgent issues: the misdiagnosis of disorders of consciousness; the need for a gold standard in detecting consciousness and diagnosing its disorders; and the need for a refined taxonomy of disorders of consciousness.

Cutaneous tuberculosis in Southern Tunisia: clinical and therapeutic particularities

Introduction: Tuberculosis remains a global health burden. Among all sites, cutaneous tuberculosis represents an uncommon manifestation with myriad presentations which explains the high rate of misdiagnosis. We aimed to study the epidemiological, clinical, and therapeutic features of cutaneous tuberculosis in southern Tunisia. Methods: A retrospective study including all patients diagnosed with extrapulmonary tuberculosis was conducted in the south of Tunisia between 1998 and 2019. This study specified the particularities of cutaneous tuberculosis cases over a 22-year period. Results: We encountered 1663 cases of extrapulmonary tuberculosis, among whom 56 cases were cutaneous tuberculosis (3.3%). Thirty eight (38) were women (67.9%). The mean age was 43±20 years. Multifocal tuberculosis was noted in 12 cases (21.4%). Systemic symptoms of tuberculosis represented by asthenia (55.3%), fever (42.8%) and weight loss (37.5%) were noted. Elevated C-reactive protein levels (50%) and accelerated erythrocyte sedimentation rates (42.8%) were also noted. The diagnosis was confirmed histologically (80.4%) and microbiologically (12.5%) . The median duration of antitubercular therapy was 11(9-14) months for multifocal tuberculosis cases (12 cases) and 8(6-12) months for cutaneous tuberculosis cases without any other sites of tuberculosis (44 cases). Adverse effects were noted in 14 cases (25%). The disease evolution was favorable in 54 cases (96.4%). Two patients had a relapse (3.6%). Conclusions: Cutaneous tuberculosis remains a common disease in south Tunisia. Patients should be screened for cutaneous tuberculosis starting with a general skin examination. Skin biopsy, the cornerstone of the diagnosis should be performed on any suspected cutaneous lesion.

Dual-attention EfficientNet based on multi-view feature fusion for cervical squamous intraepithelial lesions diagnosis

Cervicograms are widely used in cervical cancer screening but exhibit a high misdiagnosis rate. Even senior experts show only 48% specificity on clinical examinations. Most existing methods only use single-view images applied with acetic acid or Lugol’s iodine solution as their input data, ignoring the fact that non-pathological tissues may show false-positive reactions in these single-view images. This can lead to misdiagnosis in clinical diagnosis. Therefore, it is essential to extract features from multi-view colposcopy images (including the original images) as inputs, because three-view cervicograms provide complementary information. In this work, we propose an improved EfficientNet based on multi-view feature fusion for the automatic diagnosis of cervical squamous intraepithelial lesions. Specifically, EfficientNet-B0 is employed as the backbone network, and three-view images are taken as inputs by channel cascading to reduce misclassification. Additionally, we propose a dual-attention mechanism that implements the feature selection function based on Convolution Block Attention Module (CBAM) and Coordinate Attention (CA). These two attention mechanisms assist each other to enhance the feature representation of HSIL. We leverage a dataset of 3294 clinical cervigrams and obtain 90.0% accuracy with recall, specificity, and F1-Score of 87.1%, 93.0%, and 89.7%, respectively. Experimental results prove that this method can help clinicians with precise disease classification and diagnosis, and outperforms known related works.

Accuracy of preoperative staging of gastric stump cancer.

In this study, the accuracy of preoperative staging for gastric stump cancer, which has not been thoroughly investigated since the condition is rare, was investigated using computed tomography and gastroscopic imaging. Between February 1994 and April 2018, 49 patients with gastric stump cancer, following subtotal or total gastrectomy, were reviewed retrospectively. Preoperative diagnoses of clinical T and clinical N categories were compared with post-operative pathological diagnoses (pT and pN categories). Positive predictive values, accuracy, sensitivity and specificity were also evaluated. The overall accuracy of T staging was 40.8%. The positive predictive value for cT3/T4 was 96.3%, whereas the positive predictive value for cT1/T2 was 72.7%. The overall accuracy for N staging was 61.2%. The positive predictive value of lymph node positive patients was 73.3%. The positive predictive value and sensitivity of over stage II were 96.6% and 84.8%, respectively. The accuracy of preoperative diagnosis using both computed tomography and gastroscopy imaging may be feasible for T3/T4 advanced gastric stump cancer, whereas diagnosing T1/2 gastric stump cancer must be carefully considered due to high misdiagnosis rates, relating to depth.

Raman Spectroscopy: A Novel Technology for Gastric Cancer Diagnosis

Gastric cancer is usually diagnosed at late stage and has a high mortality rate, whereas early detection of gastric cancer could bring a better prognosis. Conventional gastric cancer diagnostic methods suffer from long diagnostic times, severe trauma, and a high rate of misdiagnosis and rely heavily on doctors’ subjective experience. Raman spectroscopy is a label-free molecular vibrational spectroscopy technique that identifies the molecular fingerprint of various samples based on the inelastic scattering of monochromatic light. Because of its advantages of non-destructive, rapid, and accurate detection, Raman spectroscopy has been widely studied for benign and malignant tumor differentiation, tumor subtype classification, and section pathology diagnosis. This paper reviews the applications of Raman spectroscopy for the in vivo and in vitro diagnosis of gastric cancer, methodology related to the spectroscopy data analysis, and presents the limitations of the technique.

A Case of Amelanotic Melanoma in the Setting of Cemiplimab Therapy for Invasive Squamous Cell Carcinoma

Cemiplimab is the first PD-1 inhibitor approved in the United States for the treatment of metastatic or locally advanced cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), but not melanoma. We describe a case of amelanotic melanoma (AM) developing in a patient on cemiplimab therapy for invasive SCC. Cutaneous AM is a rare subtype of cutaneous melanoma that shows little or no melanin pigmentation on clinical and histological examination thus often leading to a high misdiagnosis rate. Physicians should consider atypical presentations of melanoma, including amelanotic melanoma, during surveillance of patients managed with immune checkpoint inhibitor therapy.

Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

Background/objectiveArginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need. Information on prevalence is scarce and highly variable due to limited newborn screening (NBS) availability, variability of arginine levels in the first days of life, and high rates of misdiagnosis. US birth prevalence was recently estimated via indirect methods at 1.1 cases per million live births. Due to the autosomal recessive nature of ARG1-D we hypothesize that the global prevalence may be more accurately estimated using genetic population databases.MethodsMEDLINE and EMBASE were systematically searched for previously reported disease variants. Disease variants in ARG1-D were annotated wherever possible with allele frequencies from gnomAD. Ethnicity-specific prevalence was calculated using the Hardy–Weinberg equation and applied to generate country-specific carrier frequencies for 38 countries. Finally, documented consanguinity rates were applied to establish a birth prevalence for each country.Results133 of 228 (58%) known causative alleles were annotated with ethnic-specific frequencies. Global birth prevalence for ARG1-D was estimated at 2.8 cases per million live births (country-specific estimates ranged from 0.92 to 17.5) and population prevalence to be 1.4 cases per million people (approximately 1/726,000 people). Birth prevalence estimates were dependent on population demographics and consanguinity rate.ConclusionBirth prevalence of ARG1-D based on genetic database analysis was estimated to be more frequent than previous NBS studies have indicated. There was a higher degree of confidence in North American and European countries due to availability of genetic databases and mutational analysis versus other regions. These findings suggest the need for greater disease education around signs and manifestations of ARG1-D, as well as more widespread testing and standardization of screening for this severe disease in order to appropriately identify patients prior to disease progression.

Evaluating Distal Radius Radiological Indices as Scaphoid Fracture Risk Factors

Background: Scaphoid fracture is the most common wrist injury with a high rate of misdiagnosis and subsequent complications. As the morphology of the distal radius affects the load transmission through the carpal bones, radiographic wrist indices may help prevent missing occult fractures. Objectives: The current retrospective case-control study compared the distal radius radiographic indices of patients with a scaphoid fracture with a control group. Methods: Wrist X-rays of 129 patients with scaphoid fractures (case group) and the contralateral uninjured side of 101 patients with distal radius fractures (control group) were assessed by two orthopedic surgeons. Anteroposterior and lateral radiographs were evaluated to measure the radial height (RH), radial inclination (RI), ulnar variance (UV), and volar tilt (VT). Results: The student t-test was used to compare the distal radius radiographic indices between the two groups. The average RI was 27.14 in the scaphoid fracture group and 24.35 in the control group (P&lt;0.05). Mean VT, RH, and UV of the case group were, 12.32, 15.01, and - 0.73, respectively; this is while in the control group, the above measures were 10.76, 13.52, and - 0.11, respectively (P&lt;0.05). Conclusion: High values of RH, RI, and VT, and negative amount of UV are significantly correlated with scaphoid fracture after a Fall Onto an Outstretched Hand (FOOSH) injury.

Prognosis Analysis and Clinical Features of Orbital Cavernous Venous Malformations With Refractory Insidious Onset.

ObjectiveThe present study aims to analyse the clinical presentation, treatment and prognosis of a group of patients with orbital cavernous venous malformation (OCVM) with an insidious onset.MethodThe clinical data of 35 patients with OCVM treated at our centre between 2003 and 2020 were retrospectively analysed. The OCVMs were classified as one of six types (I–VI) according to the orbital position of the tumour. The clinical characteristics, treatment methods and follow-up results were recorded.ResultsA total of 35 patients with OCVM under the optic nerve sheath in the orbital apex area or the common tendon ring (Types I and II) were included in the present study. In 20 cases (57.1%), patients were misdiagnosed with optic neuritis, and in 20 cases (57.1%), the tumour was not identified based on imaging. The presentation was acute or subacute in 23 cases (65.7%). All patients underwent surgery: transnasal surgery in 22 cases (62.9%) and craniotomy in 13 cases (37.1%). A total of 9 patients (25.7%) experienced postoperative complications, and 17 patients (48.6%) experienced vision improvement. The average patient age at first diagnosis was 43.3 ± 10.3 years, and the median follow-up period was 64.5 months. Overall, 14 patients (40%) experienced postoperative complications: postoperative blindness in 6 cases, postoperative vision loss in 8 cases and orbital apex syndrome in 7 cases.ConclusionPatients with Type I and Type II OCVMs are the most complex cases. They have an insidious onset and are associated with a high rate of misdiagnosis and missed diagnosis. Acute and subacute decreases in visual acuity are mainly caused by OCVM haemorrhage. The difficulty of surgical treatment and the poor prognosis of postoperative vision are characteristics of this tumour. Transnasal surgery and craniotomy can be used to remove OCVMs located in the common tendon ring or optic canal as well as those involving the intracranial area through the supraorbital fissure. Meanwhile, the orbital approach (orbitotomy) has proven to be an effective method of treating OCVMs not involving the deep orbital apex and intracranial area.

Discrepancies Between Clinical and Autopsy Diagnoses in Rapid Response Team-Assisted Patients: What Are We Missing?

The rapid response team (RRT) assists hospitalized patients with sudden clinical deterioration. There is scarce evidence of diagnostic accuracy in this scenario, but it is possible that a considerable rate of misdiagnosis exists. Autopsy remains a valuable tool for assessing such question. This study aimed to compare clinical (premortem) and autopsy (postmortem) diagnoses in patients assisted by the RRT and describe major discrepancies. We reviewed 104 clinical data and autopsies from patients assisted by the RRT during a cardiac arrest event in a tertiary care hospital in Brazil. Clinical and autopsy diagnostic discrepancies were classified using the Goldman criteria. Other clinical and pathological data were described, and the group with major diagnostic discrepancies was further analyzed. We found 39 (37.5%) patients with major diagnostic discrepancies. Most frequent immediate causes of death in this group determined by autopsy were sepsis (36%), pulmonary embolism (23%) and hemorrhagic shock (21%). Pulmonary embolism was the cause of death significantly more frequent in the major discrepancy group than in the minor discrepancy group (23% versus 3%, P = 0.002). We individually described all major diagnostic discrepancies. We found a high rate (37.5%) of major misdiagnosis in autopsies from patients assisted by the RRT in a tertiary teaching hospital. Pulmonary embolism was the most inaccurate fatal diagnosis detected by autopsy.

Atypical manifestations of acute coronary syndrome — throat discomfort: a multi-center observational study

To present the clinical characteristics and the misdiagnosis rate of acute coronary syndrome manifested primarily as throat discomfort, we conducted a multicentric and retrospective study in the cardiology and otorhinolaryngology departments. Records of patients with primary complaint of throat discomfort, absence of chest pain at onset, and an ultimate diagnosis of acute coronary syndrome, as well as patients with pharyngitis (as controls) were collected from May 2015 to April 2016. The patients' main manifestations were compared. Logistic regression results showed that chest tightness, dyspnea, perspiring, and exertional throat symptoms were significantly associated with acute coronary syndrome, with odds ratios of 8.3 (95% CI 2.2-31.5), 10.9 (95% CI 1.8-66.9), 25.4 (95% CI 3.6-179.9), and 81.2 (95% CI 13.0-506.7). A total of 25 (56.82%) out of 44 acute coronary syndrome patients, who were first admitted to the otorhinolaryngology department, were misdiagnosed, with a 12% (3/25) mortality rate. Throat discomfort can be the principal manifestation of acute coronary syndrome. Such patients exhibit high misdiagnosis and mortality rates. Exertional throat symptoms, chest tightness, perspiring, and dyspnea were important indicators of acute coronary syndrome in patients whose main complaint was throat discomfort. The awareness of this condition will result in prompt diagnosis and reduce morbidity and mortality.

Rare Diseases That Impersonate One Another: X-Linked Hypophosphatemia and Tumor-Induced Osteomalacia, a Retrospective Analysis of Discriminating Features.

ABSTRACTTumor‐induced osteomalacia (TIO) is a rare paraneoplastic disease characterized by frequent fractures, bone pain, muscle weakness, and affected gait. The rarity of TIO and similar presentation to other phosphate‐wasting disorders contribute to a high misdiagnosis rate and long time to correct diagnosis. TIO is curable by tumor resection, so accurate diagnosis has significant impact on patients' emotional and economic burden. Current diagnostics for TIO rely on decades‐old literature with poor phenotypic validation. Here, we identify salient clinical differences between rigorously validated cohorts of patients with TIO (n = 9) and X‐linked hypophosphatemia (XLH; n = 43), a frequent misdiagnosis for patients with TIO. The TIO cohort had significantly elevated FGF23 (365 versus 95 RU/mL, p < 0.001) and alkaline phosphatase (282.8 versus 118.5 IU/L, p < 0.01) but significantly reduced phosphorus (1.4 versus 2.2 mg/dL, p < 0.05) and 1,25(OH)2 D (16.6 versus 59.8 pg/mL, p < 0.01). By contrast, total vitamin D was similar between the two groups. Dual‐energy X‐ray absorptiometry (DXA) scans reveal lower Z‐scores in the hip (−1.6 versus 0.050, p < 0.01) and spine (0.80 versus 2.35, p < 0.05). TIO patients were more likely to have prior clinical diagnosis of osteoporosis (67% versus 0%), use assistive devices in daily living (100% versus 14%), and have received a knee arthroplasty (33% versus 7%). TIO patients lost an average of 1.5 cm over their disease course and had sustained an average of 8 fractures each, whereas fractures were rare in XLH. The XLH cohort had higher incidence of osteotomy (19% versus 0%), spinal stenosis (12% versus 0%), secondary dental abnormalities (95% versus 44%, p < 0.001), and depression and anxiety (46.5% versus 11%). These results deepen our understanding of the subtle differences present between diseases of phosphate wasting. They suggest several biochemical, clinical, and historical features that effectively distinguish TIO from XLH. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

A large undifferentiated sarcoma of the liver in a 13-year-old girl treated with anatomical resection: a case report and review of the literature

BackgroundUndifferentiated embryonal sarcoma of the liver (UESL) is a rare liver tumor accounting for 6–13% of primary liver tumors. Accurate preoperative diagnosis is difficult, with a rather high misdiagnosis rate. Herein, we reported a very large UESL treated with anatomical resection. Our case is amongst the largest pediatric UESLs in the literature.Case presentationHerein, we report a 13-year-old girl presenting with right upper quadrant abdominal pain, postprandial vomiting, and abdominal distention, in which radiographic imaging demonstrated a huge UESL (28 × 20 × 12 cm). The patient was treated with partial hepatectomy and the 5 kg tumor was removed. The patient was discharged in good condition, with no significant complaints in her follow-up.ConclusionsAlthough different treatment strategies have been reported for UESL cases, anatomical resection is still the main treatment approach, especially for large tumors.