Diagnosis Rate Research Articles

The use of myocardial perfusion scintigraphy to screen for asymptomatic coronary artery disease prior to kidney transplantation

Abstract Background and Objectives Advanced chronic kidney disease (CKD) is associated with an increased risk of cardiovascular disease (CVD), including significant asymptomatic coronary artery disease (CAD) [1], compared to the general general public. Additionally, CVD is the leading cause of mortality in kidney transplant recipients [2]. Given the relative scarcity of available organs, individuals are commonly screened for CAD with non-invasive cardiac testing such as Myocardial Perfusion Scintigraphy (MPS). However, the benefits of screening for asymptomatic CAD are unproven and in the absence of an established screening protocol, investigations vary centre to centre and can result in uncertain interpretation of results and unnecessary delays in transplantation. The objective of this study was to assess the benefits of asymptomatic CVD screening of potential kidney transplant recipients, and its impact on transplantation outcomes. Methods This retrospective analysis included all MPS requested by the transplant team during patients’ assessment process between 2015 and 2023. Any resultant coronary angiograms (CA) were reviewed for evidence of significant CAD. Transplant decisions were reviewed to assess the impact of CVD screening on individuals’ transplant status. Results 689 individuals underwent MPS. Of these, 90% required no further cardiovascular investigations. 6% (42 individuals) had subsequent CA. <1% (5) required percutaneous intervention (PCI) whilst the rest (37) were deemed to have no significant CAD. A further 4% (29) required coronary angiography at a later date (>2 years after their MPS), with similar rates of PCI (1%). All three outcome groups (negative MPS, CA referral, CA in the future) had similar rates of diabetes (40%) and previous diagnoses of CAD (14%). The average wait for CA was 283 days post-MPS. Transplant decisions took a further 286 days after CA, which in combination with the delays associated with CA resulted in average delays of 1.5 years. Conclusions The use of MPS to screen for significant asymptomatic CAD identifies only a small proportion of individuals requiring intervention prior to kidney transplantation and significantly delays transplant decisions. These results suggest transplant centres should review their use of CVD screening prior to listing.

1.O. Scientific session: Trans & Gender-Diverse Individuals’ Mental & Behavioral Health Risks & Intervention Needs

Abstract Transgender and gender-diverse (TGD) individuals are at a greater risk for various poor mental and behavioral health outcomes than cisgender individuals, including higher rates of suicide, psychiatric diagnoses, and behavioral health problems. For example, research has documented a seven-fold increased risk for lifetime suicide attempts among young TGD people, compared with the general population. Less is known about the age of onset of such mental and behavioral health disparities and how these disparities may vary across other intersectional socio-demographic variables. It has been well-documented that trans and gender-diverse individuals often encounter discrimination and transphobia across various social, educational, professional, administrative, and healthcare settings. This discrimination, as highlighted in the literature, frequently poses obstacles to accessing both general and trans-specific healthcare services due to experiences of discrimination (e.g., misgendering, refusal of care, lack of adequate services). The right and ability to self-determine and the accessibility to gender-affirming care without discrimination are key to closing the gap in TGD individuals’ mental and behavioral health outcomes, and for them to live authentically and thrive. Tailored and affirming mental and behavioral health interventions to reduce these health inequities are pivotal for TGD individuals to achieve the highest attainable standard of physical and mental health: a key fundamental human right. Considerable gaps in the literature remain concerning the onset and determinants of gender identity-based health disparities and healthcare approaches that are respectful, inclusive, non-pathologizing, and grounded in human rights principles for TGD individuals. This workshop intends to address these knowledge gaps by delving into the mental and behavioral health needs of TGD individuals. The workshop seeks to further foster dialogue on strategies to overcome resistance to implementing approaches that uphold the human rights and well-being of these communities. Dr. Richard Bränström (Karolinska Institutet) will present a study that explores the age at which gender identity-based disparities in psychiatric diagnoses and treatment can be first identified. Dr. Gonzales (Vanderbilt University) will examine disparities in mental health and social determinants of health among TGD individuals with private insurance. Dr. Moleiro (Lisbon University Institute) will review TGD persons’ ways of identifying with the choices and trajectories in social, legal, and affirmative healthcare processes in Portugal. Dr. Lelutiu-Weinberger (Columbia University School of Nursing) will present findings from a study that assessed tobacco use and cessation attitudes, facilitators, and barriers to quitting, and intervention components and delivery modality acceptability among TGD individuals, as well as sexual minority individuals, in Romania to inform a tailored and affirming smoking cessation intervention. Key messages • Transgender and gender-diverse are at increased risk for a variety of poor mental and behavioral health compared with the general public. • There is a critical need to foster healthcare services for transgender and gender-diverse individuals that are tailored and affirming.

Diagnosis of chronic thromboembolic pulmonary disease from an intensive pulmonary embolism treatment center

Abstract Background The diagnosis of Chronic Thromboembolic Pulmonary Disease (CTEPD) following an episode of acute pulmonary embolism (PE) has exhibited inconsistencies across different healthcare institutions, and the issue of underdiagnosis remains unresolved. Purpose The aim of this study is to ascertain the incidence of CTEPD following an episode of acute PE through a follow-up conducted at a specialized PE outpatient clinic located within a PE expert center. Methods and Results In this retrospective study, a cohort of 106 consecutive patients (mean age: 63.7±17.5 years, female: 51.9%) diagnosed with acute PE between March 2015 and August 2020 at our hospital were included. Patients who were capable of visiting the hospital received follow-up care at an outpatient clinic specializing in PE. The diagnosis of CTEPD was established in cases where patients, regardless of the presence of pulmonary hypertension, exhibited chronic-phase dyspnea and demonstrated perfusion defects on lung perfusion scintigraphy. Furthermore, individuals with a mean pulmonary arterial pressure ≥25 mmHg and a pulmonary capillary wedge pressure ≤15 mmHg, as determined by right heart catheterization, were diagnosed with chronic thromboembolic pulmonary hypertension (CTEPH). During the follow-up period (median duration: 27.5 months), 23 patients were diagnosed with CTEPD, and 10 patients were diagnosed with CTEPH. The cumulative incidence rates of CTEPD and CTEPH were as follows: 20.8% and 10.8% at 1 year, 26.9% and 12.7% at 2 years, respectively; and 28.9% at 3 years for CTEPD. Signs of RV dysfunction on CT or Echocardiography may have contributed to the detection of CTEPH and were discussed with respect to parameters indicating RVdisfunction. Conclusions In present study, the cumulative incidence of CTEPD and CTEPH is notably elevated. This results suggest that active surveillance after acute PE follow-up practices may have contributed to an enhanced rate of diagnosis or that chronic PE or CTEPH may have been included at the time of PE diagnosis.Cumulative Incidence of CTEPDCumulative Incidence of CTEPH

Left atrial reservoir strain differentiates cardiac amyloidosis and hypertrophic cardiomyopathy

Abstract Aims Availability of mortality-reducing therapies for cardiac amyloidosis (CA) has led to an increase in referral rates to tertiary care centers. Investigations to improve diagnosis rates are urgently needed, as diagnosis of CA requires a multimodal approach and its early diagnosis is crucial due to high mortality in untreated patients. The aim of this study is to evaluate the accuracy of the left atrial reservoir strain (LASr) in differentiating CA patients from patients with hypertrophic cardiomyopathy (HCM). Methods This is a cross-sectional analysis from the Graz HCM Registry, a prospective single-center cohort study enrolling consecutive patients with a HCM phenotype. This analysis included HCM and CA patients with valid standardized transthoracic echocardiographic examinations. Blinded investigators performed post-processing echocardiographic analyses in 100 HCM and 95 CA patients. Results Compared to HCM patients, CA patients were more frequently male [79 (83%) vs. 54 (54%); p<0.001] and older [78 (73-81) vs. 58 (47-70) years; p<0.001]. Moreover, CA patients had a lower BMI [25.0 (22.8-26.9) vs. 26.5 (24.3-29.7) kg/m²; p=0.002] as well as lower systolic [134±20 vs. 142±25 mmHg; p=0.018] and diastolic blood pressure [78±12 vs. 84±12 mmHg; p<0.001]. Additionally, CA patients had higher NT-proBNP [2533.0 (1146.0-5016.0) vs. 543.0 (195.0-1381.0) pg/ml; p<0.001] and lower eGFR [58.4±19.1 vs. 80.1±22.2 ml/min/1.73m²; p<0.001]. LASr was significantly worse in CA patients compared to HCM patients [9.2 (5.6-13.0) vs. 21.7 (14.8-27.6) %; p<0.001]. Multivariable logistic regression analysis revealed LASr as an independent predictor of CA [OR=0.936 (95% CI 0.877-0.998)], adjusting for covariates. ROC analysis showed an AUC of 0.80 (95% CI 0.73-0.86) for LASr to discriminate CA from HCM. LASr ≤14.3% demonstrated a 80% sensitivity and 79% specificity for the identification of CA patients. Sensitivity analyses involving 74 sex- and age-matched patients yielded materially unchanged results. Conclusion Compared to HCM patients, LASr was diminished in CA patients and an independent predictor of CA. Moreover, LASr showed high diagnostic accuracy in differentiating CA and HCM patients. Prospective studies are needed to evaluate the added value of left atrial strain in the diagnostic work-up of CA patients.ROC curve of LASr

Why robot embodiment matters: questions of disability, race and intersectionality in the design of social robots.

A growing minority of those with disabilities are people of color (POC), with, for example, autism diagnosis rates now higher for children of color than for white children in the USA. This trend underscores the need for assistive technologies, especially socially assistive robots, to be designed with intersectional users in mind. Outside of Japan, most robots are designed with white synthetic skin and able-bodied features, failing to reflect the diverse users they are meant to assist. This paper explores the concept of the "engineering imaginary," the historical and cultural influences that shape these designs, and which tend to limit robot embodiment to white, able-bodied forms. Drawing on work from scholars like Lucy Suchman, Jennifer Rhee, Neda Atanasoski and Kalindi Vora, the paper critiques this engineering bias. A key historical moment in the production of the engineered imaginary of artificial humans is provided by Ovid's myth of Pygmalion and its influence on representations across literature, film, and then robotics. Furthermore, the physicality of the robot, and its role in the production of nonverbal communication (NVC) for more inclusive interaction with humans is explored, seeing these as steps toward what some roboticists are calling Artificial Empathy (AE). Through case studies like Bestic, Bina48, and HuggieBot 3.0, the paper explores what I call the poverty of the engineering imaginary, how current robotics design fails to properly address issues of race, gender, and disability. Ultimately, the paper argues for more inclusive robot designs that accommodate diverse bodies and social dynamics, questioning the pervasive norm of white, able-bodied robotic embodiment.

Immune-checkpoint myocarditis phenotype when using systematic troponin surveillance in cancer patients.

Abstract Background ICI myocarditis, often described as potentially fulminant in registries from specialized centers, lacks sufficient data on its subclinical forms. ESC 2022 guidelines advocate systematic troponin measurements for early detection, resulting in numerous suspected cases of ICI myocarditis. Additionally, many patients receive other potentially cardiotoxic cancer drugs (e.g.,anthracyclines), adding complexity to the management. Purpose To identify factors associated with ICI-myocarditis diagnosis in a single-center unselected cohort referred for suspicion of CV immune-related adverse events(irAEs). Patients underwent standardized evaluation, including serum testing, ECG, echocardiogram, cardiac MRI(CMRi) and multidisciplinary team assessment including cardiology and internal medicine specialists. Coronary imaging and myocardial biopsy (EMB) were performed as needed. ICI-myocarditis diagnosis was adjudicated by expert panel (FC, MM, SH) based on Dallas, ESC, and IC-OS criteria. Results We enrolled 175 consecutive patients from March 2022 to October 2023; 40 (22.89%) were male, with a median age of 61 (IQR 48.0-72.0) years. 92(52.57%) were referred for lone asymptomatic troponin raise, 101 (57.7%) had breast cancer; 142 (81.11%) received other cardiotoxic drugs. We identified 95 (61.71%) patients with CV irAEs at referral (8 had >=2 CV irAEs) with a total of 108 CV irAEs after follow up, including 72 (41.14%) with ICI-myocarditis at referall. No CV deaths occurred within 30 days from referall. Characteristics and univariate analysis are depicted in the Table1. Reasons for referral in the ICI-myocarditis population are depicted in the Figure1. On multivariate regression analysis, prior CV disease history (OR 6.232 [CI 1.204-32.260], p=0.029), EMB (OR 24.969 [5.139-121.32], p=<.0001), IC-OS criteria fulfilled (OR 43.108 [9.222-201.510], p=<.0001), and positive Lake Louise criteria on CMRi (OR 6.583[1.416-30.610], p=0.0163) were associated with myocarditis. In a sub-analysis group of breast cancer patients (largely receiving anthracyclines), ICI-myocarditis was associated on multivariate regression with abnormal ECG (OR 14.227 [CI 1.632-124.040], p=< 0.0163) and EMB (OR 8.508 [CI 2.718-26.638], p=0.0002). The same characteristics were significantly associated with other CV irAEs in the group of breast cancer patients. In the group of patients with cancers other than breast, factors significantly associated with ICI myocarditis diagnosis were: EMB (OR 70.656 [CI 5.970-836.161], 0.0007), and no arterial hypertension (OR 9.554 [CI 1.792-50.940], p= 0.0082). Conclusions The FAST TRACK study highlights the high proportion of patients fulfilling ICI-myocarditis criteria despite no or mild symptoms, mainly referred for troponin elevation. However, subclinical ICI-myocarditis appears to bear good prognosis. Endomyocardial biopsy is key to increase the diagnosis rate of ICI-myocarditis across different cancer populations when mildly symptomatic.Table 1Figure 1

Cirrhosis in primary practice: many patients remain potentially undiagnosed and are not receiving liver cancer surveillance.

Most patients with cirrhosis have compensated disease and are cared for in primary care; however, the exact epidemiology within Australia remains largely unknown. The aim of this study was to assess cirrhosis care in an Australian primary care setting by evaluating rates of cirrhosis diagnosis, appropriate hepatocellular carcinoma (HCC) surveillance and specialist communication. Electronic medical records in consenting general practices were reviewed using the "Liver Toolkit" to identify patients with an existing cirrhosis diagnosis. Individual cases were reviewed to identify outcomes of interest. One hundred seventy-one patients with confirmed cirrhosis across nine general practices were identified (74% male, mean age: 61.2years). There was significant variation in the rate of cirrhosis diagnosis between practices (range 31.7-637.9 per 100 000 patients, P<0.0001). Patients with cirrhosis had predominately compensated disease (75% Child-Pugh A) and common etiologies of cirrhosis were alcohol (49%), hepatitis C (47%), and metabolic dysfunction-associated steatotic liver disease (29%). Forty-two patients (25%) had received appropriate HCC surveillance. Predictors of inadequate HCC surveillance were time from last specialist correspondence (odds ratio [OR]=1.06 per month increase, 95% confidence interval [CI]: 1.02-1.10, P=0.002) and hepatitis B (OR=0.24, 95% CI: 0.06-0.98, P=0.047). Specialist correspondence with primary care was older than 2years or absent in 37% of cases. There was a 20-fold difference in the rate of cirrhosis diagnosis between general practices within Sydney, suggesting a large proportion of patients remain undiagnosed. Three quarters of patients with diagnosed cirrhosis are not receiving appropriate HCC surveillance.

Temporal trends and practice variation of paediatric diagnostic tests in primary care: retrospective analysis of 14 million tests

ObjectiveThe primary objective was to investigate temporal trends and between-practice variability of paediatric test use in primary care.Methods and analysisThis was a descriptive study of population-based data from Clinical Practice...

Results of the cancer screening program in urban areas in Shaanxi province of China, 2019-2020

Objective: Analyze the cancer screening status of the cancer screening program in urban areas in Shaanxi province in 2019-2020. Methods: The early diagnosis and early treatment project for urban cancers carried out high-risk population screening for 5 types of high-incidence malignant tumors (breast cancer, lung cancer, upper gastrointestinal cancer, liver cancer, and colorectal cancer) in urban areas. Three prefecture-level cities in Shaanxi province with a population of over 1 million (Xi'an, Baoji, and Shangluo) were selected, and 4 communities with a relatively good working foundation were selected in each city. The general population aged 45-74 years was surveyed on the principles of informed consent and voluntariness, and high-risk groups identified through the questionnaire were further subjected to free endoscopy, ultrasound, CT, and other clinical screenings. The high-risk rates, screening compliance rates, and positive detection rates of the above 5 types of malignant tumors were analyzed. Results: A total of 19 632 people completed the survey effectively, with the proportion of male participants (40.0%) lower than that of females (60.0%). A total of 10 102 high-risk groups were identified, with an initial screening high-risk rate of 51.5%, and the high-risk rates for the 5 types of cancers were 24.1% for breast cancer, 28.6% for lung cancer, 9.1% for upper gastrointestinal cancer, 4.0% for liver cancer, and 20.0% for colorectal cancer. Among the 14 960 person-time initially assessed as high-risk, 5 129 person-time received clinical screening, with a screening compliance rate of 34.3%. The number of people receiving clinical screening and the screening compliance rates for the 5 types of cancers were 1 192 (41.9%) for breast cancer, 2 081 (37.1%) for lung cancer, 574 (32.0%) for upper gastrointestinal cancer, 404 (51.3%) for liver cancer, and 878 (22.3%) for colorectal cancer, with positive detection numbers and rates of 179 (15.0%) for breast, 289 (13.9%) for lung, 9 (1.6%) for upper gastrointestinal, 14 (3.5%) for suspected liver, and 67 (7.6%) for colorectal, respectively. Conclusion: The cancer screening status of the cancer screening program in urban areas in Shaanxi province is beneficial for the detection of precancerous lesions and early cancer patients, and improving the early diagnosis and treatment rate of patients, but the public participation rate is not high, and the project management model and technical plan need to be further improved.

Incidence of Self-Reported Bothersome Tinnitus Versus Tinnitus Diagnosis Among U.S. Army Soldiers.

U.S. Army Soldiers undergo annual audiometric surveillance to facilitate prevention of auditory injury. Soldiers are screened for bothersome tinnitus and subsequently referred for a clinical audiological evaluation as warranted. Presumably, most Soldiers seen in the clinic for bothersome tinnitus receive a tinnitus diagnosis. The incidence of self-reported bothersome tinnitus at the time of annual audiometric surveillance and subsequent diagnosis of tinnitus in the medical record has not been examined to date. This study estimated the incidence of tinnitus diagnosis in a population of Soldiers who reported new onset bothersome tinnitus and explored trends associated with tinnitus diagnosis to refine hearing health education. A subset of hearing conservation records retrieved for a previous study were selected based on change in self-reporting of bothersome tinnitus. Corresponding medical records were retrieved for this sample of Active Duty (AD) Soldiers. The data were retrospectively examined, and analyses were conducted to identify statistically significant differences between Soldiers with and Soldiers without a tinnitus diagnosis. In addition, trend patterns of bothersome tinnitus and significant threshold shift (STS) were examined. Of the sample of 730,350 AD Soldiers, 16.7% self-reported new onset bothersome tinnitus and 7.1% of those recorded as having bothersome tinnitus had a diagnosis of tinnitus in their medical record. Soldiers with a tinnitus diagnosis were older and had higher pure-tone averages than Soldiers without a tinnitus diagnosis. Counterintuitively, overall trend percentages of bothersome tinnitus increased per calendar year, while the percentages of STS decreased throughout the study period. The rate of tinnitus diagnosis in the medical record is vastly lower than the prevalence of bothersome tinnitus recorded in the annual surveillance system. Steps should be taken to screen, refer, and diagnose tinnitus more consistently. Based on the outcome of the study analysis, we recommend that screening for bothersome tinnitus more closely follows procedure recommendations from the Department of Veterans Affairs and Department of Defense (VA/DOD) Tinnitus Working Group, which may reduce the rate at which Soldiers report bothersome tinnitus.

Treatment indicators and prognostic factors in colorectal neuroendocrine neoplasms and adenocarcinoma with neuroendocrine differentiation: a single center retrospective study.

This study compared survival and metastasis occurrence between colorectal neuroendocrine neoplasms (cNEN) and colorectal adenocarcinoma with neuroendocrine differentiation (cNED) and further explored their prognostic factors and treatment indicators. Patients diagnosed as cNEN and cNED in West China Hospital from January 2009 to December 2020 were enrolled. The diagnosis and metastasis rates were calculated. Univariate and multivariate Cox analyses were conducted for progression-free survival (PFS) in cNEN surgical patients, and generalized linear regression was used for metastatic disease. The study enrolled 435 patients, including 257 neuroendocrine tumors (NET), 52 neuroendocrine carcinomas (NEC), 29 mixed neuroendocrine-non-neuroendocrine neoplasms (MiNEN), and 97 NED patients, of whom 202 received local resection, and 233 received radical resection. Metastasis rates were higher in MiNEN and NEC groups compared to other groups (NED: 28.9%, MiNEN: 58.6%, NEC: 65.4%, NET: 8.6%, p < 0.001). The liver is the main metastatic site in cNEN, whereas cNED metastasized to various sites. For NEC and MiNEN patients, colon location (p = 0.002) and T stage > 2 (p = 0.040) were associated with disease progression separately. Independent risk factors for metastatic NET included tumor grade G2/G3 (p < 0.001), colon location (p = 0.001), size ≥ 1cm (p = 0.005), and CK20 partial positive (p < 0.001). cNEN show high metastatic capacity and are challenging to diagnose. More aggressive treatment and follow-up strategies are necessary for those patients. NET tumor grade higher than G2, size larger than 1cm, or located in the colon should be managed with radical surgery.

Chronic Lower Respiratory Diseases detection based on Deep Recursive Convolutional Neural Network

Recently, symptoms of Chronic Obstructive Pulmonary Disease (COPD) have been identified concerning long-term continuous treatment. Furthermore, predicting the life probability of patients with COPD is crucial for formative ensuing treatment and conduct plans. Additionally, it plays a vital role in providing complementary solutions using technologies such as Deep Learning (DL) to address experiments in the medical field. Early and timely analysis of clinical images can improve prognostic accuracy. These include COPD, pneumonia, asthma, tuberculosis and fibrosis. Conventional methods of diagnosing COPD often rely on physical exams and tests such as spirometers, chest and genetic analysis. However, respiratory diseases pose an enormous comprehensive health burden for many patients. Thus these methods are not always accurate or obtainable. However, succeeding in their accuracy involves a nonspecific diagnosis rate, time-consuming manual procedures, and extensive clinical imaging knowledge of the radiologist. To solve this problem, we use a Deep Recursive Convolutional Neural Network (DRCNN) method to detect chronic lower respiratory disease. Initially, we collected the images from the Kaggle repository, and evaluate the result based on the following stage. The first stage is pre-processing using a Gaussian filter to reduce noise and detect the edges. The second stage is segmentation used on Image Threshold Based Segmentation (ITBS), used for counting the binary image and separating the regions. In the third stage, we use the chi-square test to select the best features and evaluate the image values for each feature and threshold. Finally, classification using DRCNN detects CLRD classifying better than the previous method. In synthesis, CLRD can be detected by many staging measures, such as sensitivity, specificity, accuracy, precision, and Recall

Machine learning-assisted identification of potential cancer inhibitors: Multifunctional biomineralized CaCO3-polyethyleneimine nanoparticle carriers and their application in lung cancer therapy

Cancer, as a prevalent phenomenon among malignant tumors, has a late-stage diagnosis rate approaching half, significantly limiting treatment efficacy and imposing substantial physiological and psychological burdens on patients. Therefore, developing innovative therapeutic platforms that simultaneously optimize diagnostic accuracy, enhance therapeutic efficacy, and minimize side effects is a critical scientific challenge in the field of precision cancer medicine. In this study, we employed a simple and efficient one-pot synthesis method combined with polyethyleneimine (PEI)-mediated biomineralization technology to successfully prepare calcium carbonate-polyethyleneimine (CaCO3-PEI) composite nanoparticles. These nanoparticles exhibit high pH sensitivity and can rapidly degrade under the mildly acidic conditions that mimic the tumor microenvironment, providing potential for targeted tumor therapy. Subsequently, we encapsulated compound 1, which has potential for lung cancer treatment, within the CaCO3-PEI nanoparticles, successfully constructing the CaCO3-PEI@1 composite system. Structural analysis of this composite system was conducted through characterization techniques. In vitro cell experiments demonstrated that the CaCO3-PEI@1 composite system exhibited significant anticancer effects by effectively inhibiting cancer cell proliferation through the regulation of apoptosis-related protein Bax expression. This provides new insights and experimental evidence for the development of cancer treatment strategies. Based on the experiment and molecular docking identified activity against lung cancer, the compound 1 was used as the initiator for the machine learning model, and up to 10,000 episodes were generated, after thorough examination, it was found about two-thirds of the generated episodes were entirely different from each other, which demonstrated that the machine learning model was a powerful tool for designing of potential inhibitors against lung cancer.

Impact analysis of the driver's license-type scoring system in the quality management of hospital medical records: An observational study.

The purpose of this study was to analyze the impact of implementing a driver's license-type scoring system on the quality management of hospital medical records. We collected relevant medical record quality control data before (from April to November 2021) and after (from April to November 2022) the use of the driver's license-type scoring management in the medical record quality management of a Grade-A tertiary general hospital in a prefecture-level city ("R Hospital" for short). We evaluated the impact by statistically analyzing the data using the χ2 test and t test with the SPSSAU online statistical analysis software. Compared with before the implementation of the new system, the filling rate of discharge medical records within 2 days, logical rate of day diagnosis and treatment medical records, logical rate of day surgery medical records, and clinical tumor-node-metastasis staging evaluation rate before tumor treatment significantly increased, and the difference was statistically significant (P < .05); the rate of errors or omissions on the first page of inpatient medical records significantly decreased, and the difference between before and after implementation of the new system was statistically significant (P < .05). We found that the driver's license-type scoring management adapted for use in the quality management of hospital medical records was effective in regulating the medical record writing behavior of physicians and improved the quality of medical records, thus meriting wide promotion.

Diagnostic process of cancer in a health system without gatekeeping: a single centre survey analysis.

It is essential to increase the rates of early diagnosis in cancer control, and the diagnostic process needs to be improved to achieve this goal. Previous studies showed that in countries where there is a gatekeeping system, there might be a delay in cancer diagnosis. Our aim is to examine the process of cancer diagnosis in a healthcare system without gatekeeping. A quantitative descriptive study has been conducted in various outpatient clinics of Pendik Training and Research Hospital, between 1 February and 31 May 2019, with individuals aged over 18 and diagnosed with cancer in the last six months. The data was collected through a questionnaire filled in by face-to-face interview method. Patient's socio-economic characteristics, their symptoms at the time of the diagnosis and the diagnosis process were questioned. The median diagnostic interval was 30 days (min-max 1-365), and the median patient interval was 60 (1-600) days. Patients pointed out that the diagnostic tests, especially the pathology reporting process, caused the diagnostic interval to be prolonged. Of the patients, 84% (n 135) stated that they did not consider their symptoms as a sign of serious illness. The patient interval was shortest with symptoms of haematuria and haematochezia and longest with dysuria and change in bladder habit. The study examined the diagnosis process in our health system, where patients can apply for health services at any stage. The results showed that there were no superior outcomes to those observed in primary care-led health systems. Patients reported that waiting times for medical tests led to prolongation of the diagnosis time. Cancer awareness of patients should also be increased to shorten patient admission times.

Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease

The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset ≤45 years and/or a family history of PD in up to third-degree relatives. Where possible, we also recruited affected and unaffected relatives. We analysed DNA samples with a combination of single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing (WGS). We investigated the association between identified pathogenic mutations and demographic and clinical factors such as age at motor symptom onset, family history, motor symptoms (MDS-UPDRS) and cognitive performance (MoCA). We performed baseline genetic analysis in 718 families, of which 205 had sporadic early-onset PD (sEOPD), 113 had familial early-onset PD (fEOPD), and 400 had late-onset familial PD (fLOPD). 69 (9.6%) of these families carried pathogenic variants in known monogenic PD-related genes. The rate of a molecular diagnosis increased to 28.1% in PD with motor onset ≤35 years. We identified pathogenic variants in LRRK2 in 4.2% of families, and biallelic pathogenic variants in PRKN in 3.6% of families. We also identified two families with SNCA duplications and three families with a pathogenic repeat expansion in ATXN2, as well as single families with pathogenic variants in VCP, PINK1, PNPLA6, PLA2G6, SPG7, GCH1, and RAB32. An additional 73 (10.2%) families were carriers of at least one pathogenic or risk GBA1 variant. Most early-onset and familial PD cases do not have a known genetic cause, indicating that there are likely to be further monogenic causes for PD.

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan

BackgroundHereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.MethodsFamilies from Khyber Pakhtunkhwa with at least two members showing HMSN symptoms, who had not previously undergone genetic analysis, were included. Referrals for genetic investigations were based on clinical features suggestive of HMSN by local neurologists. WES was performed on affected individuals from each family, with Sanger sequencing used to validate and analyze the segregation of identified variants among family members. Clinical data including age of onset were assessed for variability among affected individuals, and the success rate of genetic diagnosis was compared with existing literature using proportional differences and Cohen’s h.ResultsWES identified homozygous pathogenic variants in GDAP1 (c.310 + 4 A > G, p.?), SETX (c.5948_5949del, p.(Asn1984Profs*30), IGHMBP2 (c.1591 C > A, p.(Pro531Thr) and NARS1 (c.1633 C > T, p.(Arg545Cys) as causative for HMSN in five out of nine families, consistent with an autosomal recessive inheritance pattern. Additionally, in families with HMSN, a SETX variant was found to cause cerebellar ataxia, while a NARS1 variant was linked to intellectual disability. Based on American College of Medical Genetics and Genomics criteria, the GDAP1 variant is classified as a variant of uncertain significance, while variants in SETX and IGHMBP2 are classified as pathogenic, and the NARS1 variant is classified as likely pathogenic. The age of onset ranged from 1 to 15 years (Mean = 5.13, SD = 3.61), and a genetic diagnosis was achieved in 55.56% of families with HMSN, with small effect sizes compared to previous studies.ConclusionsThis study expands the molecular genetic spectrum of HMSN and HMSN plus type neuropathies in Pakistan and facilitates accurate diagnosis, genetic counseling, and clinical management for affected families.

AI in Psoriatic Disease: Scoping Review.

Artificial intelligence (AI) has many applications in numerous medical fields, including dermatology. Although the majority of AI studies in dermatology focus on skin cancer, there is growing interest in the applicability of AI models in inflammatory diseases, such as psoriasis. Psoriatic disease is a chronic, inflammatory, immune-mediated systemic condition with multiple comorbidities and a significant impact on patients' quality of life. Advanced treatments, including biologics and small molecules, have transformed the management of psoriatic disease. Nevertheless, there are still considerable unmet needs. Globally, delays in the diagnosis of the disease and its severity are common due to poor access to health care systems. Moreover, despite the abundance of treatments, we are unable to predict which is the right medication for the right patient, especially in resource-limited settings. AI could be an additional tool to address those needs. In this way, we can improve rates of diagnosis, accurately assess severity, and predict outcomes of treatment. This study aims to provide an up-to-date literature review on the use of AI in psoriatic disease, including diagnostics and clinical management as well as addressing the limitations in applicability. We searched the databases MEDLINE, PubMed, and Embase using the keywords "AI AND psoriasis OR psoriatic arthritis OR psoriatic disease," "machine learning AND psoriasis OR psoriatic arthritis OR psoriatic disease," and "prognostic model AND psoriasis OR psoriatic arthritis OR psoriatic disease" until June 1, 2023. Reference lists of relevant papers were also cross-examined for other papers not detected in the initial search. Our literature search yielded 38 relevant papers. AI has been identified as a key component in digital health technologies. Within this field, there is the potential to apply specific techniques such as machine learning and deep learning to address several aspects of managing psoriatic disease. This includes diagnosis, particularly useful for remote teledermatology via photographs taken by patients as well as monitoring and estimating severity. Similarly, AI can be used to synthesize the vast data sets already in place through patient registries which can help identify appropriate biologic treatments for future cohorts and those individuals most likely to develop complications. There are multiple advantageous uses for AI and digital health technologies in psoriatic disease. With wider implementation of AI, we need to be mindful of potential limitations, such as validation and standardization or generalizability of results in specific populations, such as patients with darker skin phototypes.

Seasonal variation and demographic characteristics of acute tonsillitis and peritonsillar abscess in ENT practices in Germany (2019-2023).

Peritonsillar abscess (PTA) is a common soft tissue infection of the head and neck. It remains unclear to what extent inflammatory diseases of the palatine tonsils or other infections contribute to the development of PTA. This study examines the demographic characteristics and seasonal variations of acute tonsillitis (aT) and PTA in ENT practices in Germany using a practice database. Retrospective analysis based on data from the German-wide IQVIA™ Disease Analyzer database for the period 2019 to 2023. Data include diagnoses of aT (ICD-10: J03) and PTA (ICD-10: J36) as well as patient demographics (age, sex). Seasonal variations were identified by analysing the monthly diagnosis rates. The Pearson correlation between the monthly case numbers of aT and PTA was determined. 59,934 cases of aT and 5,024 cases of PTA were recorded. The mean age was 30.3 years (aT) and 39.4 years (PTA). The proportion of female patients was 60% (aT) and 49% (PTA). Both diagnoses showed seasonal variations with peaks in winter and spring and a decline in summer, although the decline was less pronounced for PTA. The monthly case numbers of aT and PTA showed high correlations between r = 0.75 (2019) and r = 0.94 (2020). The average correlation for the period 2019-2023 was r = 0.81. During the coronavirus pandemic, a significant decrease in the case numbers of both diseases was observed, while the typical seasonal variations disappeared. After the pandemic, the case numbers increased to higher levels than before the pandemic. aT and PTA both show seasonal variations with peaks in winter and spring and a decline in summer. The correlation between the variations of aT and PTA could be related to a partly common aetiology or to the specific sample of the practice database. The attenuation of seasonal variation during the coronavirus pandemic illustrates the impact of COVID-19 on the incidence of other diseases and on the use of healthcare pathways by patients.

Rising? trends in Anxiety and Depression among Individuals with Rheumatoid Arthritis: A Population-Based Study.

To investigate trends in depression and anxiety over three decades among individuals with rheumatoid arthritis (RA). Patients with incident RA (age >18 years, meeting 1987 ACR criteria in 1985-2014) were identified using the Rochester Epidemiology Project. Individuals with RA were matched 1:1 with non-RA comparators on age, sex, and calendar year of RA incidence. Patients were followed until death, migration or 12/31/2020. Depression and anxiety were defined using established ICD9/10 code sets. Cox models were used to compare trends in the occurrence of depression and anxiety diagnoses and cooccurring anxiety and depression by decade and RA status, adjusted for potential confounders. The study included 1,012 individuals with RA and 1,012 matched controls (mean age 55.9 years; 68.38% female). Hazard ratios (HR) demonstrated a temporal increase in anxiety and co-occurring anxiety and depression from 2005-2014 compared to 1985-1994 for individuals both with and without RA. Persons with RA exhibited a rising occurrence of anxiety (HR: 1.27; 95% confidence interval (CI): 0.86-1.88). and concomitant anxiety and depression (HR: 1.49; 95% CI: 0.96-2.33) compared to controls. Trends were most pronounced in seropositive RA patients (HR for anxiety: 4.01; 95% CI: 2.21-7.30). Anxiety and concomitant anxiety and depression diagnoses are elevated in individuals with RA. The increasing occurrence of anxiety and co-occurring anxiety and depression suggests rising awareness and diagnosis of these disorders. Adding to stable but high rates of depression diagnoses, individuals with RA now have evidence of a widening gap in mental health diagnoses that clinicians should address.