missed diagnosis
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2022 ◽  
Author(s):  
Jiayu Liang ◽  
Linli Jiang ◽  
Maoye Li ◽  
Lei Liu ◽  
Hui Li

Abstract Background: Cervicofacial space infections are potentially life-threatening, which require accurate diagnosis, early incision, and adequate drainage. The utilization of computed tomography (CT) in cervicofacial space infections has significantly increased. However, the clinical value of preoperative CT imaging in cervicofacial space infections remains controversial. We, therefore, investigated whether CT examination should be used as a routine examination in the treatment of patients with cervicofacial space infections.Methods: A retrospective study of all patients affected by cervicofacial space infections that received incision and drainage surgery from Jan 2016 to Dec 2020 was performed. Patients were divided into 2 groups: the group with preoperative CT and the group without preoperative CT. Outcomes, including re-operation rate, missed diagnosis rate, days of symptom relief, length of stay, duration of surgery, and total cost of hospitalization, were analyzed.Results: Of 153 patients, 108 patients underwent surgery with preoperative CT and 45 patients without preoperative CT. The re-operation rate in the preoperative CT group (6/108, 5.6%) was significantly lower (P<0.05) than that in the group without preoperative CT (10/45, 22.2%). Significant reduction of missed diagnosis rate, days of symptom relief, length of stay, and duration of surgery (P<0.05) were detected in the preoperative CT group. Conclusions: Preoperative CT examination should be recommended as a routine examination in the treatment of cervicofacial space infections for its usefulness in reducing the missed diagnosis rate and repeated surgery complication.


Author(s):  
Zhidan Hong ◽  
Xuanyi He ◽  
Fang Yu ◽  
Huanyu Liu ◽  
Xiaoli Zhang ◽  
...  

AbstractMeckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive inherited disorder. Missed diagnosis might happen in clinical works due to an unclear genotype–phenotype correlation. We analyzed two families visiting our center; the parents are normal; each of the family aborted a fetus at 12WG. Following ultrasonography and pathological examination, both were diagnosed as MKS. Whole exome sequencing identified a compound heterozygous of two novel variants of CEP290 and a heterozygous of a novel variant of CC2D2A. Frameshift mutations in ZNF77 were also detected. Western blot analyzing whole-brain tissue showed that the expression of ZNF77, CC2D2A, and CEP290 was enhanced. HEK293T transfected with over-expression wildtype/mutated ZNF77 plasmid showed that SHH was increased in wildtype ZNF77 cells, while SHH and CC2D2A were increased in mutated ZNF77 cells. Our research provided two novel pathogenic variants of CEP290 and CC2D2A and suggested that ZNF77 might promote the expression of CC2D2A and regulate the amount of SHH.


2022 ◽  
Vol 13 (01) ◽  
pp. 037-052
Author(s):  
Sahar Zare ◽  
Zohre Mobarak ◽  
Zahra Meidani ◽  
Ehsan Nabovati ◽  
Zahra Nazemi

Abstract Background One of the best practices for timely and efficient diagnoses of central nervous system (CNS) trauma and complex diseases is imaging. However, rates of imaging for CNS are high and impose a lot of costs to health care facilities in addition to exposing patients with negative impact of ionizing radiation. Objectives This study aimed to systematically review the effects and features of clinical decision support systems (CDSSs) for the appropriate use of imaging for CNS injuries. Method We searched MEDLINE, SCOPUS, Web of Science, and Cochrane without time period restriction. We included experimental and quasiexperimental studies that assessed the effectiveness of CDSSs designed for the appropriate use of imaging for CNS injuries in any clinical setting, including primary, emergency, and specialist care. The outcomes were categorized based on imaging-related, physician-related, and patient-related groups. Result A total of 3,223 records were identified through the online literature search. Of the 55 potential papers for the full-text review, 11 eligible studies were included. Reduction of CNS imaging proportion varied from 2.6 to 40% among the included studies. Physician-related outcomes, including guideline adherence, diagnostic yield, and knowledge, were reported in five studies, and all demonstrated positive impact of CDSSs. Four studies had addressed patient-related outcomes, including missed or delayed diagnosis, as well as length of stay. These studies reported a very low rate of missed diagnosis due to the cancellation of computed tomography (CT) examine according to the CDSS recommendations. Conclusion This systematic review reports that CDSSs decrease the utilization of CNS CT scan, while increasing physicians' adherence to the rules. However, the possible harm of CDSSs to patients was not well addressed by the included studies and needs additional investigation. The actual effect of CDSSs on appropriate imaging would be realized when the saved cost of examinations is compared with the cost of missed diagnosis.


Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2394
Author(s):  
Soo Jeong Lee ◽  
Seung Min Yoo ◽  
Min Ji Son ◽  
Charles S. White

The primary imaging modality for the diagnosis of patent ductus arteriosus (PDA) is echocardiography. However, CT may be the technique on which an incidental PDA is first recognized because of the increasing number of chest CT scans performed for a variety of causes. Identification of PDA on CT may lead to earlier closure using a PDA occluder device. Immediate identification of incidental PDA is important, but a high rate of missed diagnosis of PDA has been reported due to its small size and anatomic location. In addition, echocardiography may overlook the presence of even a large PDA due to decrease in the amount of shunting through the PDA caused by high pulmonary artery pressures. This review provides the basic CT anatomy and clinical perspective of PDA, and discusses the role of CT in the evaluation of PDA as well as methods to avoid overlooking a small PDA on CT.


2021 ◽  
Author(s):  
Nicola Gaibazzi ◽  
Claudio Reverberi ◽  
Domenico Tuttolomondo ◽  
Bernardo Di Maria

Background: The usefulness of opportunistic arrhythmia screening strategies, using an electrocardiogram (ECG) or other methods for random snapshot assessments is limited by the unexpected and occasional nature of arrhythmias, leading to a high rate of missed-diagnosis. We have previously validated a cardiac monitoring system for AF detection pairing simple consumer-grade Bluetooth low-energy (BLE) heart rate (HR) sensors with a smartphone application (RITMIA, Heart Sentinel srl, Italy). In the current study we test a significant upgrade to the abovementioned system, thanks to the technical capability of new HR sensors to run algorithms on the sensor itself and to acquire (and store on-board) single-lead ECG strips, if asked to do so. Methods and Results We have reprogrammed a HR monitor intended for sports use (Movensense HR+) to run our proprietary RITMIA algorithm code in real-time, based on RR analysis, so that if any type of arrhythmia is detected it triggers a brief retrospective recording of a single-lead ECG, providing tracings of the specific arrhythmia for later consultation. We report the initial data on the behavior, feasibility and high diagnostic accuracy of this ultra-low weight customized device for standalone automatic arrhythmia detection and ECG recording, when several types of arrhythmias were simulated, under different baseline conditions. Conclusions This customized device was capable to detect all types of simulated arrhythmias and correctly triggered an visually interpretable ECG tracing. Future human studies are needed to address real-life accuracy of this device.


2021 ◽  
pp. 004947552110446
Author(s):  
Mamta Sengar ◽  
Yousuf Siddiqui ◽  
Alisha Gupta ◽  
Anup Mohta

Orchidopexy for undescended testis is recommended at a younger age than heretofore; our study aimed to assess delays, and their causes, by retrospective analysis of data from a single tertiary care centre over one year (2015–2016). Almost 80% of children were brought after 1 year of age, mostly because of delayed referral by primary physicians (60%), or missed diagnosis by parents or primary physicians (20%). Misconception about the risk of surgery below 1 year was significant (15%). A timely referral is encouraged.


Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2264
Author(s):  
Jingjing Wan ◽  
Bolun Chen ◽  
Yongtao Yu

Background: High-quality colonoscopy is essential to prevent the occurrence of colorectal cancers. The data of colonoscopy are mainly stored in the form of images. Therefore, artificial intelligence-assisted colonoscopy based on medical images is not only a research hotspot, but also one of the effective auxiliary means to improve the detection rate of adenomas. This research has become the focus of medical institutions and scientific research departments and has important clinical and scientific research value. Methods: In this paper, we propose a YOLOv5 model based on a self-attention mechanism for polyp target detection. This method uses the idea of regression, using the entire image as the input of the network and directly returning the target frame of this position in multiple positions of the image. In the feature extraction process, an attention mechanism is added to enhance the contribution of information-rich feature channels and weaken the interference of useless channels; Results: The experimental results show that the method can accurately identify polyp images, especially for the small polyps and the polyps with inconspicuous contrasts, and the detection speed is greatly improved compared with the comparison algorithm. Conclusions: This study will be of great help in reducing the missed diagnosis of clinicians during endoscopy and treatment, and it is also of great significance to the development of clinicians’ clinical work.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Tatsuya Maruhashi ◽  
Shogo Matsui ◽  
Farina Mohamad Yusoff ◽  
Shinji Kishimoto ◽  
Masato Kajikawa ◽  
...  

Abstract Background The ankle-brachial index measurement is used for screening and diagnosis of lower-extremity peripheral artery disease and cardiovascular risk assessment. However, the value is occasionally unreliable since the oscillometric ankle-brachial index can be elevated and falsely normalized despite the presence of lower-extremity peripheral artery disease because of the incompressibility of infrapopliteal arteries at the ankle, potentially leading to a missed diagnosis of lower-extremity peripheral artery disease or underestimation of cardiovascular risk. Case presentation We report two cases of lower extremity peripheral artery disease with normal ankle-brachial index (a 76-year-old Asian man and a 66-year-old Asian man). In both cases, the ankle-brachial index was within the normal range (1.00–1.40) despite the presence of lower-extremity peripheral artery disease, whereas upstroke time at the ankle calculated from the pulse volume waveform simultaneously obtained by plethysmography during the ankle-brachial index measurement was prolonged (≥ 180 milliseconds). Diagnostic imaging tests revealed the presence of occlusive arterial disease in the lower extremity and severe calcification of infrapopliteal arteries. Conclusions In both cases, the oscillometric ankle-brachial index might have been falsely normalized despite the presence of lower-extremity peripheral artery disease because of calcified incompressible infrapopliteal arteries. Sole reliance on the ankle-brachial index value may lead to a missed diagnosis of lower-extremity peripheral artery disease or underestimation of cardiovascular risk. Upstroke time at the ankle was helpful for suspecting the presence of lower-extremity peripheral artery disease in both patients with normal ankle-brachial index. In addition to history-taking and vascular examination, upstroke time at the ankle should be carefully checked for accurate diagnosis of peripheral artery disease and cardiovascular risk assessment in patients with normal ankle-brachial index.


2021 ◽  
Vol 14 (12) ◽  
pp. e246669
Author(s):  
Ellery Altshuler ◽  
Mahmoud Aryan ◽  
William King ◽  
Rolando Otero

Malignancy is the most common cause of hypercalcemia among hospitalised patients and is frequently caused by elevations in parathyroid hormone-related peptide (PTHrP). The most common PTHrP-producing cancers are carcinomas of the head, neck and lung. Hypercalcemia can be the presenting sign of cancer and, in these cases, solid tumours are usually discovered on CT scan. In rare cases, lymphoma may also present with hypercalcemia. CT scan is less sensitive for lymphoma than for most solid tumours and the diagnosis may be missed. We present the case of a 69-year-old woman who presented with hypercalcemia in the setting of severe weight loss and elevated PTHrP. Oncological workup was stopped after unrevealing CT scans and an underlying lymphoma was missed. Our case emphasises the need for a comprehensive oncological workup for patients with unexplained hypercalcemia and elevated PTHrP, even when CT scans are unrevealing.


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