Probability Of Misdiagnosis Research Articles

Corona virus disease 2019 lesion segmentation network based on an adaptive joint loss function

Corona virus disease 2019 (COVID-19) is an acute respiratory infectious disease with strong contagiousness, strong variability, and long incubation period. The probability of misdiagnosis and missed diagnosis can be significantly decreased with the use of automatic segmentation of COVID-19 lesions based on computed tomography images, which helps doctors in rapid diagnosis and precise treatment. This paper introduced the level set generalized Dice loss function (LGDL) in conjunction with the level set segmentation method based on COVID-19 lesion segmentation network and proposed a dual-path COVID-19 lesion segmentation network (Dual-SAUNet++) to address the pain points such as the complex symptoms of COVID-19 and the blurred boundaries that are challenging to segment. LGDL is an adaptive weight joint loss obtained by combining the generalized Dice loss of the mask path and the mean square error of the level set path. On the test set, the model achieved Dice similarity coefficient of (87.81 ± 10.86)%, intersection over union of (79.20 ± 14.58)%, sensitivity of (94.18 ± 13.56)%, specificity of (99.83 ± 0.43)% and Hausdorff distance of 18.29 ± 31.48 mm. Studies indicated that Dual-SAUNet++ has a great anti-noise capability and it can segment multi-scale lesions while simultaneously focusing on their area and border information. The method proposed in this paper assists doctors in judging the severity of COVID-19 infection by accurately segmenting the lesion, and provides a reliable basis for subsequent clinical treatment.

The Atypical Emotional Development in Adolescents with Bipolar Disorder and Relevant Interventions

Bipolar disorder (BD) has become a serious mental problem in the group of adolescents. The main symptoms of BD are depression, (hypo)mania, anxiety, and functional disabilities. The symptoms of the two subtypes of BD are different. The problem is that the probability of misdiagnosis is high, which may cause the non-serious symptoms to exacerbate. The methods of researching atypical emotional development include measuring the level of mood instability and examining the deficit in facial emotion and family factors. The symptoms of BD patients are highly connected with a high level of mood instability and a high level of inappropriate self-sacrifice from parents and relatives. The deficit of facial emotion is also one of the atypical processes. Dialectical Behavior Treatment is useful to decrease the level of depression and relieve BD symptoms. The probability of adolescents having BD is associated with mood instability. BD patients showed faster reactions to fearful faces and made mistakes in processing angry faces. Therapy barely influences BD symptoms, but dialectical behavior therapy had a great effect in remitting symptoms of BD. In that case, future study should pay more attention to the atypical emotional development and the precautions. This review can provide some guidance to relevant future intervention studies and practices for at-risk adolescents.

Clinical Diagnosis and Treatment Analysis of 16 Cases of Gastric-Type Endocervical Adenocarcinoma

Objective: Cervical cancer classification based on human papillomavirus (HPV) infection status is necessary, as the popularity of HPV vaccination is increasing. Hence, this study aimed to explore the clinicopathological features, diagnosis, treatment, and prognosis of gastric-type endocervical adenocarcinoma (GAS) in west China. Methods: We performed a retrospective analysis and follow-up of patients with GAS who were hospitalized in West China Second University Hospital, a tertiary care center in west China, between September 2019 and April 2021. Results: A total of 16 cases were pathologically diagnosed as GAS at the hospital, most of which had no specific clinical manifestations. Among the 16 cases, 3 cases were confirmed preoperatively. The occurrence of full-layer cervix stroma infiltration, lymphatic vessel infiltration, and lymph node metastasis were 87.5%, 100%, and 50%, respectively. Among all cases, 8 cases were classified as stage III according to the International Federation of Gynecology and Obstetrics 2018 Clinical Staging Standard for cervical cancer. A total of 15 patients underwent a transabdominal or laparoscopic extensive hysterectomy, and the remaining 1 patient was pathologically diagnosed with GAS after a total hysterectomy and afterward underwent bilateral oophorectomy and pelvic lymph node dissection as supplementary surgeries. The follow-up data presented the survival of the 16 patients receiving concurrent chemoradiotherapy after surgery. However, GAS recurred in 3 non-medically-controlled patients among the 16 patients in 3 to 6 months after the treatment. Conclusions: GAS is a rare but highly malignant cancer that usually results in a poor prognosis. A few reports of GAS diagnosis and treatment, especially from developing countries, are available. Hitherto clinical routine screening methods might be insufficient to fulfill the requirements of GAS diagnosis owing to the difficulties in preoperative diagnosis and the probability of misdiagnosis. To reduce the rate of misdiagnosis, repeated deep multisite biopsies, cervical curettage, cervical conization, and hysteroscopy might be helpful in suspicious GAS cases.

Judgment of benign and early malignant colorectal tumors from ultrasound images with deep multi-View fusion

Background and objective: Colorectal cancer (CRC) is currently one of the main cancers world-wide, with a high incidence in the elderly. In the diagnosis of CRC, endorectal ultrasound plays an important role in judging benign and early malignant tumors. However, malignant tumors in the early-stage are not easy to identify visually and experts usually seek help from multi-view images, which increases the workload and also exists a certain probability of misdiagnosis. In recent years, with the widespread use of deep learning methods in the analysis of medical images, it becomes necessary to design an effective computer-aided diagnosis (CAD) system of CRC based on multi-view endorectal ultrasound images. Method: In this study, we proposed a CAD system for judging benign and early malignant colorectal tumors, and constructed the first multi-view ultrasound image dataset of CRC to validate our algorithm. Our system is an end-to-end model based on a deep neural network (DNN) which includes a feature extraction module based on dense blocks, a multi-view fusion module, and a Multi-Layer Perception-based classifier. A center loss was used for the first time in CAD tasks, to optimize our model. Result: On the constructed dataset, the proposed system surpasses expert diagnosis in accuracy, sensitivity, specificity, and F1-score. Compared with the popular deep classification networks and other CAD methods, the algorithm has reached the best performance. Comparative experiments using different feature extraction methods, different view fusion strategies, and different classifiers verify the effectiveness of each part of the algorithm. Conclusion: We propose a CAD system for judging benign and early malignant colorectal tumors based on DNN, which combines information of ultrasound images from different views for comprehension. On the first CRC multi-view ultrasound image dataset which we constructed, our method outperforms expert diagnosis results and all other methods, and the effectiveness of each part of the system has been verified. Our system has application value in future medical practice on early diagnosis of CRC.

A Case of Papillophlebitis Caused by the Contraceptive Implant in a Healthy Young Woman with Angioid Streaks

Introduction: Papillophlebitis is a rare condition that has a high probability of misdiagnosis due to its puzzling resemblance to common conditions, especially Central Retinal Vein Occlusion (CRVO) and papillitis. Methods: We present an interesting case of a 30-year-old healthy woman with mild CRVO in the right eye associated with ocular pain on upgaze, visual field defect, dyschromatopsia, and desaturation of red color along with initially normal visual acuity, nondetectable relative afferent pupillary defect, and normal foveal reflex. She underwent a subdermal etonogestrel implant (progestin) by a gynecologist two months before presentation. Following the removal of the progestin implant by her gynecologist, we started the patient on intravenous methylprednisolone (500mg daily for 3 days). Results: This combination of incomplete features of CRVO and papillitis guide us to the diagnosis of atypical papillophlebitis. The fundi showed a typical appearance of angioid streaks. The association between papillophlebitis and angioid streaks was unclear. After a thorough review of the literature, no correlation was found, indicating that angioid streak is only an incidental finding. Conclusion: The patient’s condition improved with systemic steroid administration, and complete visual recovery was noted after one year, despite the presence of macular ischemia and nerve fiber layer atrophic changes on Optical Coherence Tomography (OCT) and OCT angiography.

High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

BackgroundBeing a newly defined disease, RVCL-S is underrecognized by clinicians globally. It is an autosomal dominantly inherited small vessel disease caused by the heterozygous C-terminal frameshift mutation in TREX1 gene. RVCL-S is featured by cerebral dysfunction, retinopathy, and vasculopathy in multiple internal organs. Misdiagnosis may cause devastating consequences in patients, such as iatrogenic PML caused by misuse of immunosuppressants. Thus, increasing awareness of this disease is in urgent need.ResultsWe uncovered a large Chinese origin RVCL-S pedigree bearing the TREX1 mutation. A comprehensive characterization combining clinical, genetic, and neuropathological analysis was performed. The Intrafamilial comparison showed highly heterogeneous clinical phenotypes. Mutation carriers in our pedigree presented with retinopathy (8/13), seizures (2/13), increased intracranial pressure (1/13), mild cognitive impairment (3/13), stroke-like episode (3/13), mesenteric ischemia (1/13), nephropathy (9/13), ascites (3/13), hypertension (9/13), hyperlipidemia (3/8), hypoalbuminemia (3/8), normocytic anemia (3/8), subclinical hypothyroidism (1/8), hyperfibrinogenemia (1/8), hyperparathyroidism (2/8), and abnormal inflammatory markers (4/8). The constellation of symptoms is highly varied, making RVCL-S a challenging diagnosis. Comparison with reported RVCL-S pedigrees further revealed that the mesenteric ischemia is a novel clinical finding and the MRS pattern of brain lesions is emulating neoplasm and tumefactive demyelination.ConclusionOur reports characterize a highly heterogeneous RVCL-S pedigree, highlight the probability of misdiagnosis in clinical practice, and broaden the clinical spectrum of RVCL-S.

Preimplantation genetic testing of pathogenic variants in genes SMN1, PKD1, RHD with high homologous copies

Introduction Preimplantation genetic testing for the monogenic disease (PGT-M) compared with conventional genetic diagnosis is complicated by extremely small amounts of biomaterial. This feature leads to increased allele dropout (ADO) rates, contamination significance, failed amplification events. Therefore, the development of PGT-M systems for pathogenic variants in the genes with homologous copies is more complicated challenge. PGT-M test-systems for the SMN1, RHD and PKD1 genes were developed in our laboratory and successfully applied in PGT-M cases. Material & methods The test-systems combine direct diagnosis of the pathogenic variants by PCR- RFLP or fragment analysis and linkage analysis of highly heterozygous STRs. The nested PCR was used for DNA amplification from different sources: single cells or whole genome amplification products (WGA) of embryo biopsy, total DNA. Results The test-system for PGT-M in the presence of homologous genes or pseudogene copies of the target gene has to exactly discriminate the allele with and without pathogenic variant and detect miss target amplification to evaluate the probability of misdiagnosis. PCR-RFLP was used to discriminate the single nucleotide difference between exon 7 of the SMN1 (NC_000005.9:g.70247773C) and SMN2 (NC_000005.9:g.69372353T) genes. This method cannot detect the number of the SMN1 copies, but confirms the presence of at least one copy. PGT-M for the SMN1 was performed in 7 cycles for 36 embryos. RHD detection was based on the difference of PCR products length from the RHD and RHCE intron 7 (NC_000001.10: 25636476-25636480GGGGT, 25639738-25639741GGCA in the RHD gene) and 8 (NC_000001.10: 25698440-25698442TAA in the RHCE gene). These nucleotide variations were performed for PGT-M previously, but we optimized this approach for WGA products. PGT for Rh- status was performed in 2 cycles for 11 embryos. Similarity of genes SMN1/SMN2 and RHD/RHCE sequences requires careful usage of STRs for indirect diagnostics. Among the STRs, selected for the test-system, we found some duplicate repeats, flanked by similar sequences and located in a similar way in each target/nontarget locus. D1S2561/ D1S2572 and D1S2564/D1S2569 for RHD/RHCE and D5S1556/ D5S6934 forSMN1/SMN2. The segregation analysis of such markers is not univocal and can lead to misdiagnosis. Exons 1–33 of all 46 exons of the PKD1have high similarity with six pseudogenes located on chromosome 16. Therefore, it is important to distinguish PCR product from the gene and pseudogenes as well as amplification of miss targets. Amplification of several miss targets is conjugated with high load of PCR reaction and can lead to increased ADO rate. The previously performed PGT test-system based on long-range PCR is not applicable with WGA products ( Zeevi et al. 2013 ). So, we developed new test-system and specified amplification by using “touchdown” amplification program and high- precision polymerase in combination with miss target PCR products detection by PCR-RFLP. PGT-M for PKD1 was performed in 2 cycles for 3 embryos. Conclusions The PGT-M test-system in the presence of homologous copies of target gene has to be able to distinguish target and nontarget pathogenic variant location. The reported test-systems for the SMN1, PKD1, RHD genes satisfy this condition, detect pathogenic variant with high efficacy and can be used with biomaterials of different types.

A Case of Eccrine Porocarcinoma, Located in the Breast: The Pitfalls Reviewed

Evidence on eccrine porocarcinoma (EPC) was revised in response to the case of a 74-year old patient, presenting with an EPC located in the breast and initially treated with local excision only. She was referred to our center after loco-regional recurrence, but re-excision with lymphadenectomy and adjuvant radiotherapy to a dose of 66 Gy failed to obtain loco-regional control. EPC is a rare disease, occurring in 0.005-0.01% of all skin cancers. The probability of misdiagnosis is high, especially in case of an unusual primary site of tumour location. Clinical and histological diagnosis encompasses a large list of differential diagnoses. Treatment primarily consists of surgery, with lymphadenectomy in case of unfavorable characteristics. No evidence exists for adjuvant systemic or loco-regional treatment.

A Case Report of Maxillary Anterior Radiolucent Lesion Associated with Impacted Teeth

The unilocular radiolucencies, with its wide range of possible diagnosis, remain the topic of much debate and interest for clinicians. These lesions cannot be diagnosed solely based on radiographic appearance, but should be based on clinical, radiological and histopathological features. Due to high probability of misdiagnosis of this entity, a sound knowledge of various unilocular radiolucencies, adequate use of diagnostic aids and careful observation is important to provide proper diagnosis and treatment. Here, we present a case of a unilocular lesion in the right anterior maxilla with two impacted teeth.

Diffusion weighted MR imaging of primary and recurrent middle ear cholesteatoma: an assessment by readers with different expertise.

Introduction and Purpose. Diffusion weighted imaging (DWI) has been proven to be valuable in the diagnosis of middle ear cholesteatoma. The aims of our study were to evaluate the advantage of multi-shot turbo spin echo (MSh TSE) DWI compared to single-shot echo-planar (SSh EPI) DWI for the diagnosis of cholesteatoma. Material and Methods. Thirty-two patients with clinical suspicion of unilateral cholesteatoma underwent preoperative MRI (1.5T) with SSh EPI and MSh TSE. Images were separately analyzed by 4 readers with different expertise to confirm the presence of cholesteatoma. Sensitivity, specificity, diagnostic accuracy, and positive (PPV) and negative predictive values (NPV) were assessed for each observer and interrater agreement was assessed using kappa statistics. Diagnosis was obtained at surgery. Results. Overall MSh TSE showed higher diagnostic accuracy and lower negative predictive value (NPV) compared to conventional SSh EPI. Interreader agreement between the observers revealed the superiority of MSh TSE compared to SSh EPI. Interrater agreement among all the four observers was higher by using MSh TSE compared to SSh EPI. Conclusion. Our findings suggest that MSh TSE DWI has higher sensitivity for detection of cholesteatoma and lower probability of misdiagnosis. MSh TSE DWI is useful in guiding less experienced observers to the diagnosis.

Development of digital dashboard system for medical practice: maximizing efficiency of medical information retrieval and communication.

It is reported that digital dashboard systems in hospitals provide a user interface (UI) that can centrally manage and retrieve various information related to patients in a single screen, support the decision-making of medical professionals on a real time basis by integrating the scattered medical information systems and core work flows, enhance the competence and decision-making ability of medical professionals, and reduce the probability of misdiagnosis. However, the digital dashboard systems of hospitals reported to date have some limitations when medical professionals use them to generally treat inpatients, because those were limitedly used for the work process of certain departments or developed to improve specific disease-related indicators. Seoul National University Bundang Hospital developed a new concept of EMR system to overcome such limitations. The system allows medical professionals to easily access all information on inpatients and effectively retrieve important information from any part of the hospital by displaying inpatient information in the form of digital dashboard. In this study, we would like to introduce the structure, development methodology and the usage of our new concept.

Public Health Impacts of Exposure to Carbon Monoxide From Gas Appliances in UK Homes – Are We Missing Something?

Carbon monoxide (CO) is a colourless and odourless poisonous gas formed from the incomplete combustion of substances containing carbon. In the United Kingdom, over 22 million homes have mains or liquefied petroleum gas and consequently there is particular concern regarding potential CO poisoning resulting from malfunctioning domestic gas appliances. Although the number of reported cases of CO poisoning in the United Kingdom is relatively small, there is a high probability of misdiagnosis of the condition due to the ambiguous clinical symptoms of CO poisoning; incidence may therefore be much higher than currently reported. This review discusses the current knowledge on human health and toxicological effects following exposure to CO, focusing particularly on the public health impacts associated with gas appliances in UK homes. In determining the possibility of an underlying threat, the biological plausibility of misdiagnosis, in combination with reported cases, is discussed. The implication of misdiagnosis for public health treatment is also briefly summarised.

The estimation of parental genotypes by the analysis of a fixed number of their offspring.

When genotypes are cryptic in adult organisms but visible in young life-stages, it is possible to estimate the genotypes in parents after the examination of a fixed number of their offspring. Thus, in Drosophila, males collected in the wild can be crossed to females of a homozygous laboratory stock, and the identification for genotype of seven larvae is largely enough to guarantee a correct diagnosis of the two alleles of the father (P = 0.984). On the other hand, when collected females were inseminated in nature, it should be possible to determine the constitution both the female and her mate, after the analysis of a sufficient number of their offspring. Nevertheless, exact formulas for the probabilities of correct diagnoses of parental genotypes in this case have not yet been published. In this paper we derive such formulas, and illustrate their application. The conclusion we draw from our calculations is that, unless 13 larvae are examined among the offspring, the probability of misdiagnosis is over the 0.05 level. Of course, the errors produced become greater as smaller offspring numbers are analyzed. But in the case of one locus with two alleles, we have derived formulas to correct the observed number of matings and estimate its actual number in the sample, for any offspring sample size. After these corrections, we have been able to calculate estimates of relative mating frequencies in the sampled population, together with their associated errors, which can be subsequently used in studies of adult fitness components, mainly in those dealing with sexual selection.

Limited information, medical entitlements and distributive justice

This paper asks the question of how much should society spend on diagnosis as opposed to medical treatments and compensation when implementing its goals of distributive justice in health policy through publicly-funded medical entitlement programs in a world of limited information? A model is presented in which social planners seek to maximize expected social welfare by allocating medical goods, including diagnostic tests among medically dissimilar individuals when there is imperfect information about the medical condition of an individual, subject to the resource constraints of a medical entitlement fund. The goals of distributive justice underlying the social welfare function is governed by a parameter representing society's aversion to inequality. It is argued that society, given its aversion to inequality, need not always entitle the medically more fortunate individual to less treatment and compensation. Moreover, in most cases, it is socially desirable to spend a finite and equal amount on diagnostic tests for each individual, even though there is some probability of misdiagnosis. In some unusual cases, zero expenditures on diagnostic tests will be socially optimal.