High Diagnosis Rate Research Articles

Advantages and limits of remote consultations for HIV pre-exposure prophylaxis health pathway: ePrEP qualitative study

ObjectiveBecause of a high rate of HIV diagnosis and restricted medical access in the Centre-Val de Loire region in France , remote consultations (RC) with a community-based approach has been implemented to promote access to healthcare. Our study aimed to determine whether RC could improve access to pre-exposure prophylaxis (PrEP) for men who have sex with men (MSM) as part of the healthcare pathway associated with PrEP. Materials and MethodsA qualitative approach involving semi-structured interviews with 17 MSM and 3 physicians from specialized sexual health centres was performed, with a mean duration of interview over one hour. The research focused on the health pathway associated with PrEP, from initial awareness to ongoing prescription and follow-up. ResultsTransitioning PrEP consultations to RC is feasible, but concerns about a potential decline in care quality compared to traditional sexual health centres follow-ups were noted. Both MSM and physicians recognized that RC could complement face-to-face approaches, especially in terms of organizational benefits. In rural areas, access to specialists through RC was seen as a partial solution, though it could be hindered by barriers in accessing laboratory testing and pharmacy services, like fear of stigmatization. More generally, distrust of medication and the difficulty of discussing sexuality with a GP were highlighted, which could limit the uptake of PrEP without access to specialists. ConclusionsThe initiation and uptake of PrEP among MSM are more effectively influenced by initiatives that provide information, reassurance, and facilitate initial procedures, rather than solely through RC. A strategy combining digital and community-based approaches, along with medical expertise, is recommended to increase PrEP utilization among MSM.

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.

Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic diseases for ICU patients. In 44 studies of children in ICUs with diseases of unknown etiology, 37% received a genetic diagnosis, 26% had consequent changes in management, and net healthcare costs were reduced by $14,265 per child tested by URGS, RGS, or RES. URGS outperformed RGS and RES with faster time to diagnosis, and higher rate of diagnosis and clinical utility. Diagnostic and clinical outcomes will improve as methods evolve, costs decrease, and testing is implemented within precision medicine delivery systems attuned to ICU needs. URGS, RGS, and RES are currently performed in <5% of the ~200,000 children likely to benefit annually due to lack of payor coverage, inadequate reimbursement, hospital policies, hospitalist unfamiliarity, under-recognition of possible genetic diseases, and current formatting as tests rather than as a rapid precision medicine delivery system. The gap between actual and optimal outcomes in children in ICUs is currently increasing since expanded use of URGS, RGS, and RES lags growth in those likely to benefit through new therapies. There is sufficient evidence to conclude that URGS, RGS, or RES should be considered in all children with diseases of uncertain etiology at ICU admission. Minimally, diagnostic URGS, RGS, or RES should be ordered early during admissions of critically ill infants and children with suspected genetic diseases.

Percutaneous biopsy for the diagnosis, risk stratification, and molecular profiling of neuroblastoma: A single-center retrospective study.

To determine whether percutaneous core needle biopsy (PCNB) is adequate for the diagnosis and full molecular characterization of newly diagnosed neuroblastoma. Patients with newly diagnosed neuroblastoma who underwent PCNB in interventional radiology at a single center over a 5-year period were included. Pre-procedure imaging and procedure details were reviewed. Rates of diagnostic success and sufficiency for International Neuroblastoma Pathology Classification (INPC), risk stratification, and evaluation of genomic markers utilized in the Children's Oncology Group risk stratification, and status of the anaplastic lymphoma kinase (ALK) gene were assessed. Thirty-five patients (13 females, median age 2.4years [interquartile range, IQR: 0.9-4.4] and median weight 12.4kg [IQR: 9.6-18]) were included. Most had International Neuroblastoma Risk Group Stage M disease (n=22, 63%). Median longest axis of tumor target was 8.8cm [IQR: 6.1-12]. A 16-gauge biopsy instrument was most often used (n=20, 57%), with a median of 20 cores [IQR: 13-23] obtained. Twenty-five specimens were assessed for adequacy, and 14 procedures utilized contrast-enhanced ultrasound guidance. There were two post-procedure bleeds (5.7%). Thirty-four of 35 procedures (97%) were sufficient for histopathologic diagnosis and risk stratification, 94% (n=32) were sufficient for INPC, and 85% (n=29) were sufficient for complete molecular characterization, including ALK testing. Biologic information was otherwise obtained from bone marrow (4/34, 12%) or surgery (1/34, 2.9%). The number of cores did not differ between patients with sufficient versus insufficient biopsies. In this study, obtaining multiple cores with PCNB resulted in a high rate of diagnosis and successful molecular profiling for neuroblastoma.

NHS Health Check attendance is associated with reduced multiorgan disease risk: a matched cohort study in the UK Biobank

BackgroundThe NHS Health Check is a preventive programme in the UK designed to screen for cardiovascular risk and to aid in primary disease prevention. Despite its widespread implementation, the effectiveness of the NHS Health Check for longer-term disease prevention is unclear. In this study, we measured the rate of new diagnoses in UK Biobank participants who underwent the NHS Health Check compared with those who did not.MethodsWithin the UK Biobank prospective study, 48,602 NHS Health Check recipients were identified from linked primary care records. These participants were then covariate-matched on an extensive range of socio-demographic, lifestyle, and medical factors with 48,602 participants without record of the check. Follow-up diagnoses were ascertained from health records over an average of 9 years (SD 2 years) including hypertension, diabetes, hypercholesterolaemia, stroke, dementia, myocardial infarction, atrial fibrillation, heart failure, fatty liver disease, alcoholic liver disease, liver cirrhosis, liver failure, acute kidney injury, chronic kidney disease (stage 3 +), cardiovascular mortality, and all-cause mortality. Time-varying survival modelling was used to compare adjusted outcome rates between the groups.ResultsIn the immediate 2 years after the NHS Health Check, higher diagnosis rates were observed for hypertension, high cholesterol, and chronic kidney disease among health check recipients compared to their matched counterparts. However, in the longer term, NHS Health Check recipients had significantly lower risk across all multiorgan disease outcomes and reduced rates of cardiovascular and all-cause mortality.ConclusionsThe NHS Health Check is linked to reduced incidence of disease across multiple organ systems, which may be attributed to risk modification through earlier detection and treatment of key risk factors such as hypertension and high cholesterol. This work adds important evidence to the growing body of research supporting the effectiveness of preventative interventions in reducing longer-term multimorbidity.

Prognostic factors of gallbladder cancer (GBC) in patients diagnosed over a period of 20 years: A Canadian province experience.

437 Background: GBC is an uncommon but often fatal gastrointestinal cancer. The poor prognosis of GBC may in part be due to lack of effective screening tools and a delay in diagnosis that leads to presentation in the latter stages of the disease. The current study aims to determine outcomes of patients with GBC in relation to contextual, demographic and clinical factors in a Canadian province over a span of 20 years. Methods: In this population-based retrospective cohort study patients with GBC diagnosed in Saskatchewan, Canada from 2000-2019 were evaluated. Cox proportional multivariate regression analyses was performed to determine factor correlated with inferior outcomes. Results: 331 patients with median age of 74 yrs and M:F of 1:2 were identified. 92% had a pathological diagnosis of GBC &amp; 80% had adenocarcinoma. 49% were diagnosed &gt;year 2010. 217 (66%) of those diagnosed with GBC were rural residents. 149 (45%) patients were referred to a cancer center. In patients with documented stage, 64% had stage IV disease &amp; &gt;90% were symptomatic with a median time from the onset of symptoms to the diagnosis of 7 months. Rural residents have a significantly high rate of smoking history whereas urban residents have significantly high rates of pathological diagnosis, low serum albumin and elevated platelet count. Median overall survival (OS) of patients with stage I-III GBC was 20 months (95% CI:10.9-29.1) vs. 4.0 months (3.0-5.0) with stage IV GBC (&lt;0.001). No significant differences were noted in OS in relation to residence and time-period of diagnosis. Patients who were not referred for a cancer center had a median OS of 3 months (1.98-4.0) vs. 13 months (9.9-16.1), p&lt;0.001. Median disease-free survival (DFS) of patients with stage I-III GBC was 20 months (95%CI: 10-30.1) with 5-year DFS of 36%. Patients with stage I-III GBC who received adjuvant chemotherapy had 5-yr DFS of 43% vs. 33% without adjuvant chemotherapy (p=0.73). 5-year DFS of urban patients was 25% vs. 42% of rural patients (p=0.016). On multivariate analysis for patients with Stage I-III GBC, stage III disease, HR (hazard ratio), 2.63 (1.09-6.34) and urban residence, HR, 2.20 (1.1-4.39) were correlated with inferior DFS whereas for all patients, stage IV disease, HR, 3.02 (1.85-4.94); no referral to cancer center, HR, 2.64 (1.51-4.62); lack of surgery, HR, 1.63 (1.03-2.57); neutrophil:lymphocyte of &gt;3.2, HR, 1.57 (1.05-2.36); and age ≥70, HR, 1.51 (1.04-2.19) were correlated with inferior OS. Conclusions: In a real-world setting, most patients with GBC are diagnosed with late-stage disease and were not referred to cancer center. For early-stage GBC, urban residence and stage III disease were correlated with inferior outcome, whereas for all stage GBC, stage IV disease, old age, lack of surgery, lack of referral to cancer center, and high neutrophil to lymphocyte ratio were correlated with inferior survival.

A risk model based on 10 ferroptosis regulators and markers established by LASSO-regularized linear Cox regression has a good prognostic value for ovarian cancer patients

Ovarian cancer is the deadliest gynecologic cancer due to its high rate of recurrence and limited early diagnosis. For certain patients, particularly those with recurring disorders, standard treatment alone is insufficient in the majority of cases. Ferroptosis, an iron- and ROS (reactive oxygen species)-reliant cell death, plays a vital role in the occurrence of ovarian cancer. Herein, subjects from TCGA-OV were calculated for immune scores using the ESTIMATE algorithm and assigned into high- (N = 185) or low-immune (N = 193) score groups; 259 ferroptosis regulators and markers were analyzed for expression, and 64 were significantly differentially expressed between two groups. These 64 differentially expressed genes were applied for LASSO-regularized linear Cox regression for establishing ferroptosis regulators and a markers-based risk model, and a 10-gene signature was established. The ROC curve indicated that the risk score-based curve showed satisfactory predictive efficiency. Univariate and multivariate Cox risk regression analyses showed that age and risk score were risk factors for ovarian cancer patients’ overall survival; patients in the high-risk score group obtained lower immune scores. The Nomogram analysis indicated that the model has a good prognostic performance. GO functional enrichment annotation confirmed again the involvement of these 10 genes in ferroptosis and immune activities. TIMER online analysis showed that risk factors and immune cells were significantly correlated. In conclusion, the risk model based on 10 ferroptosis regulators and markers has a good prognostic value for ovarian cancer patients.

ИССЛЕДОВАНИЕ УСЛОВИЙ ФОРМИРОВАНИЯ РЕЗИСТЕНТНОСТИ У МИКРООРГАНИЗМОВ, ВСТРЕЧАЮЩИХСЯ В ГИНЕКОЛОГИЧЕСКОЙ ПРАКТИКЕ, К ЛЕКАРСТВЕННЫМ СРЕДСТВАМ СЕКНИДАЗОЛ И МЕТРОНИДАЗОЛ (IN VITRO)

Bacterial vaginosis (BV) is a common disorder of the vaginal ecosystem in women of reproductive age and is associated with pelvic inflammatory disease and a range of pregnancy complications. In addition, BV is characterized by high rates of recurrence, and therefore, timely and accurate diagnosis and effective treatment methods are required.The purpose of the study: to study the antimicrobial action and the dynamics of the formation of resistance to metronidazole and secnidazole in microorganisms that cause BV. Materials and methods: the antimicrobial activity of the preparations was determined by the method of serial dilutions in broth. The dynamics of the formation of resistance to secnidazole and metronidazole was studied by passage cultures in a liquid nutrient medium with increasing concentrations of the antibiotic. Results: A study was made of the antibacterial activity of the drug secnidazole against the key pathogens of BV G. vaginalis and A. vaginae. It was shown that when compared with metronidazole traditionally used for the treatment of BV, secnidazole showed a higher level of activity against the studied bacterial species. An analysis of the dynamics of the formation of resistance to the drugs metronidazole and secnidazole in bacterial strains of the causative agent of BV showed that the most pronounced process of adaptation was observed in the A. vaginae strain to metronidazole. When developing resistance to secnidazole, the studied strains of G. vaginalis and A. vaginae did not acquire resistance to the test drug during long-term co-cultivation of bacteria in the presence of the drug. Conclusions: the results obtained indicate that secnidazole (Secnidox) has a low potential for the formation of resistance in G. vaginalis and A. vaginae with prolonged and repeated use of the drug. Secnidazole (Secnidox) may be highly effective in the treatment of BV caused by G. vaginalis and A. vaginae.

Expert consensus on the application of amyloid-PET imaging in the diagnosis of Alzheimer's disease

Alzheimer's disease (AD) is known as the most prevalent type of dementia in the elderly population. However, AD is regarded as a persistent sever clinical challenge due to its high morbidity but low rates of diagnosis and treatment in China. Intracerebral β-Amyloid protein deposition is the earliest pathological process that occurs in the continuous spectrum of AD, prior to clinical symptoms such as cognitive decline. Standardizing the operation and result interpretation of amyloid positron emission tomography (PET) during the clinical practice, and achieving the reliability, repeatability and comparability of the imaging process and results will contribute to the early and accurate diagnosis, efficacy evaluation, and outcome prediction. A global binary interpretation (positive or negative) of amyloid PET images is recommended. In clinical interpretation, amyloid PET image results should be combined with clinical and neuropsychological characteristics, other morphological and/or functional imaging data, and other biological markers.

PP50 Early Diagnosis Effect Of Newborns With Critical Congenital Heart Disease Using National Health Insurance Data In South Korea

IntroductionCritical congenital heart disease (CCHD) refers to a group of heart defects that cause serious, life-threatening symptoms in the neonatal period and requires timely surgical or catheter interventions. We tried to explore current status of CCHD burden and the effect of early diagnosis of CCHD to mortality using the Korean national health insurance (NHI) data.MethodsWe analyzed the national health insurance (NHI) data from 2014 to 2018. We identified CCHD patients using the diagnosis codes and intervention codes from the claim data and the prevalence, mortality and medical expenditure of CCHD were analyzed. We linked neonatal data with their mother’s medical claim data and developed retrospective cohort data set for analyzing the effect of early diagnosis to mortality and related outcomes of CCHD treatment.ResultsThe annual prevalence of neonatal CCHD in Korea was 0.144% percent. A total of 2,241 CCHD neonates, 1,546 (69.0%) underwent cardiac ultrasound within three days after birth, and mothers of 419 neonates had a record of prenatal fetal ultrasound (18.7%). In our comparison of neonates diagnosed with CCHD within three days of birth with those diagnosed with CCHD on or after day 4 of birth, the probability of early diagnosis increased for preterm infants and infants with low birth rate. Regarding mortality rate, most types of CCHD showed a significantly higher mortality rate in the early diagnosis group.ConclusionsThe reason for the high mortality rate despite a high early diagnosis rate pertains to the high percentage of patients with severe conditions that induce a serious heart rate within three days of birth. More than half of the neonates with CCHD were found to have not undergone a prenatal fetal ultrasound, rendering this an important policy target.

Antimicrobial Point Prevalence Survey in four Emergency Departments at Manchester University NHS Foundation Trust

Abstract Introduction Antimicrobial Point Prevalence Surveys (PPS) are a recognised tool to facilitate monitoring of compliance to an organisation’s antimicrobial stewardship (AMS) programme.1 Most PPS tools used within secondary care focus on prescribing of antimicrobials for in-patients. At Manchester University NHS Foundation Trust (MFT) PPS are carried out by clinical pharmacists across all inpatient ward areas. Antimicrobials are one of the most prescribed medicines in the emergency department2 (ED) yet, the current MFT PPS tool does not facilitate undertaking PPS in EDs. A new validated outpatient PPS tool3 from the Global Point Prevalence Survey (GPPS) was released earlier this year. Aim To pilot the GPPS outpatient tool in the EDs at MFT to determine the level of compliance with the MFT antimicrobial guidelines within the EDs, estimate the total burden of antimicrobial use and describe types of infections and prescribed antimicrobials within the EDs. Methods Following the GPPS outpatient protocol3 the four emergency departments (3 general EDs, and 1 paediatric ED) at MFT were assessed in a ten-day period during May 2023. Each ED was assessed continuously for a 4-hour timeslot on a weekday morning by an AMS pharmacist who retrieved the data from the EPIC electronic patient record system remotely. All patients who were allocated a room/bedspace on ED within the timeslot were audited, including patients who were not prescribed antimicrobials. Guideline compliance was checked with the MFT antimicrobial guidelines. The online GPPS data collection tool was used, generating a data download into an Excel spreadsheet for analysis. This study was a service evaluation and so did not require ethical approval. Results 180 patients were audited from 4 EDs yielding a total of 41 prescriptions for antimicrobials. 28/180 patients were prescribed one or more antimicrobial, with an overall antimicrobial prescribing rate of 15.5%. Prescribing was higher in the paediatric ED with a rate of 25%. 92.7% (38/41) of antimicrobials were prescribed intravenously (IV). Choice of antimicrobial was compliant in 38/41 (92.7%). Dose was compliant in 40/41 (97.6%). Duration of treatment was compliant in 39/41 (95.1%). Sepsis accounted for 48.8% of indications. 2/41 prescriptions were based on the C Reactive Protein (CRP) biomarker. Discussion/Conclusion Whilst the study was only conducted over a short time period, the findings suggested that overall compliance with the MFT antimicrobial guidelines was very good. The prescribing rate of 15.5% was low in comparison to the recent MFT inpatient PPS which showed a prescribing rate of 30%. There is a high rate of diagnosis of sepsis and prescribing of IV antimicrobials in comparison to orals which may be anticipated in the emergency setting. The GPPS outpatient audit tool provided an opportunity to do a baseline assessment within the EDs across MFT, providing data on prevalence of antimicrobial prescribing and compliance to the MFT guidelines. The GPPS audit tool did not have the utility to review the accuracy of clinical diagnosis of severe infection/sepsis within the ED, or the appropriateness of IV antimicrobial prescribing. Further research should be undertaken to provide assurance on the clinical diagnosis of severe infection and the appropriateness of IV antimicrobial prescribing with the EDs.

23 Latent Profiles of Children Referred for Possible Autism

Objective:Autism is a neurodevelopmental disorder characterized by impairments in social communication and the presence of restricted and repetitive behaviors (RRBs). Clinical diagnosis of autism is often complicated by heterogeneity in core autism traits and other individual characteristics (e.g., cognition). Previous literature suggests that degree of autism characteristics, cognitive ability, and age contribute to identifying homogenous subgroups of autism, which facilitates prognosis and treatment planning. The present study extends these findings by examining profiles of cognition, age, and autism characteristics (measured by the Autism Diagnostic Observation Schedule, Second Edition [ADOS-2]) in a clinical sample of school-aged children presenting with concern for possible autism. Profiles are also described according to whether children received an autism diagnosis and clinician ratings of emotional/behavioral problems, which have been shown to influence diagnostic clarity when assessing for autism.Participants and Methods:We conducted a retrospective chart review of 188 children (68% male) ages 4-17 years (M=8.9) who were referred for an autism evaluation. Latent profile analysis was conducted using age, ADOS-2 Social Affect (SA) and RRB scores, and verbal and non-verbal intelligence quotients (VIQ/NVIQ). Model fit comparing 2, 3, 4, and 5-class models was assessed using log-likelihood, AIC, BIC, SABIC, entropy, and Lo, Mendell, and Rubin (LMR) and bootstrap likelihood ratio (BLRT) tests. The frequency of clinical autism diagnosis and ADOS-2 emotional/behavioral problems were calculated across profiles in the best-fitting model.Results:The 5-class model demonstrated the best fit. The following characteristics were observed across five profiles: 1) mean age = 9.5 years, Low Average VIQ/NVIQ, and low SA (M=5.2) and RRB (M=0.7) scores; 2) mean age = 7.3 years, Average VIQ/NVIQ, and low SA (M=3.1) and RRB (M=0.8) scores; 3) mean age = 10.1 years, Low Average VIQ/NVIQ, and high SA (M=11.3) and RRB (M=4.2) scores; 4) mean age = 8.8 years, Average VIQ/NVIQ, and moderately high SA (M=9.6) and RRB (M=3.4) scores; and 5) Exceptionally High VIQ, Above Average NVIQ, and comparatively mid-level SA (M=6.6) and RRB (M=3.6) scores. Autism diagnosis and emotional/behavioral problems varied across profiles. Profiles 1 and 2 contained lower diagnosis rates (33% and 10%, respectively). Profiles 3 and 4 contained the highest diagnosis rates (97% in both), followed by profile 5 (75%). In terms of emotional/behavioral problems, Profile 2 exhibited the highest overactivity (56%). Profile 3 demonstrated the highest rate of tantrums/disruptive behaviors (20%).Conclusions:Findings revealed distinct profiles of IQ and autism characteristics within a clinical sample of school-aged children referred for possible autism. Children with the highest scoring ADOS profile were older compared to other profiles. Higher and lower scoring ADOS profiles exhibited both lower and higher IQ scores. Descriptive analyses suggested that the frequency of autism diagnosis was notably higher in moderate and high-scoring ADOS profiles; however, emotional/behavioral problems were salient in only one low and one high-scoring ADOS profile. The findings suggest that higher-scoring ADOS profiles consistently demonstrated high autism diagnosis rates but varied across IQ and behavioral problems. These results have implications for interpreting these characteristics during clinical autism diagnosis.

Transgender people in different European and Latin American countries: A cross cultural comparison in some relevant measures

Abstract Background Prejudice against transgender &amp; gender-diverse people persists &amp; is associated with physical &amp; mental health harm. This study describes &amp; characterizes comparative data between countries on gender self-definition/expression &amp; its relationship to gender incongruence diagnosis. Methods We used snowball sampling for a face-to-face survey in France (N = 379; 2010), Italy (N = 167; 2015-2016), Brazil (N = 391; 2016), &amp; Chile (N = 377, 2018). Participants were 18+ years &amp; identified as transgender. An open-ended item was used to capture the self-designation of gender: “How would you describe your gender identity in your own words?” We conducted chi-square bivariate analyses and multivariate regression models to examine variation in gender self-definition across countries &amp; its relationship to obtain a change of legal sex/gender markers between countries &amp; incongruence diagnoses. Results The preliminary results indicate that self-definitions vary across countries. In France, categories were man, trans man, woman, trans woman, &amp; trans. In Brazil &amp; Chile, a traditional cultural category not in European countries was expressed: travesti. Results showed that a “non-binary” had to be included too. Results showed that lower percentages of trans persons in Chile (22% of trans men &amp; 15% of trans women, Brazil (25% &amp; 12%, respectively) &amp; Italy (10% and 21%, respectively) changed their legal gender markers, as compared to France (34% and 35%, respectively) (p &amp;lt; 0.000). The results showed differences between countries considering the self-definition made by each participant regarding obtaining gender incongruence diagnosis with higher rates of diagnosis in Italy and France (p &amp;lt; 0.001). Conclusions These findings show that transgender identity varies between countries &amp; over time. The results indicate the importance of self-identification in trans-health studies, which have implications for global policy and research on the health of trans-identifying persons.

Fault diagnosis of low-speed heavy load super large rolling bearing based on deep learning

The conventional eigenvalue alarm mode has a high rate of false alarm and missed alarm for the low-speed heavy load super large rolling bearing. Besides, the traditional signal processing method such as envelope spectral analysis is difficult to extract its fault characteristic frequencies, resulting in a high rate of false diagnosis and missed diagnosis. In order to solve the above problems, an intelligent diagnosis method for the low-speed heavy load super large rolling bearing based on deep learning is proposed. The proposed method mainly utilizes the strong robustness of deep learning algorithm to the quality of original vibration data in the field of fault diagnosis. Firstly, an effective signal acquisition scheme is designed to solve the problem that the signal characteristics of low-speed heavy load super large rolling element bearing are difficult to be acquired. Then, the collected data are randomly divided into training sets, verification sets and test sets by using data enhancement technology. Subsequently, input the divided training set samples into 1-dimensional convolution neural network (1DCNN) deep learning model for learning and training to construct the 1DCNN learning model and set network structure parameters. Meanwhile, the optimal training model is obtained by validating the updating effect of model parameters through validation set. Finally, the test data is input into the trained model to realize intelligent diagnosis. Effectiveness of the proposed method is verified by the vibration data of a wind power main bearing.

The role of laparoscopy in closed abdominal injury

ObjectiveTo investigate the effect of laparoscopy on the diagnosis and treatment of closed abdominal injury. MethodsA total of 26 patients with closed abdominal injury admitted to our hospital from January 2016 to January 2019 were searched. All patients were treated by laparoscopy. All patient reports were made with the informed consent of the patients. ResultsAll patients were diagnosed clearly during operation. Among them, there were 3 cases of gastric perforation, 2 cases of liver rupture, 13 cases of spleen rupture, 3 cases of small intestine rupture, 1 case of liver round ligament laceration, 2 cases of small mesenteric vascular laceration, 1 case of colon liver mesenteric laceration, and 1 case of retroperitoneal hematoma. Of the 26 patients in this group, 23 (88.5%) completed laparoscopically or laparoscopically assisted; 5 cases (19.3%) only performed laparoscopic exploration without special treatment, and 3 cases (11.5%) switched to laparotomy. The blood loss was 50–2000 ml (mean 500 ml), and the operative time was 60–180min (mean 128min). The length of hospital stay was 3–21 d (mean 9 d). There were no complications or deaths related to laparoscopy in the whole group. Conclusion Laparoscopic technique has the advantages of less trauma, high diagnosis rate and fast recovery. It can also be used for surgical treatment in the diagnosis and treatment of closed abdominal injury, so as to achieve the purpose of comprehensive diagnosis and treatment. The limitations of laparoscopy should also be noted.

Image processing based on neural networks

This article integrates convolutional neural network (CNN) and graph convolutional network (GCN) techniques. Performance is improved by the suggested architecture's use of crucial methods such as dropout, batch normalization, and rank-based random pooling. The network was trained and tested on a sizable amount of breast lesion imaging data, and its precision was evaluated in comparison to other methods. The findings showed a significant increase in accuracy, resulting in high rates of malignant lesion diagnosis with few false positives. The effective fusion of CNN and GCN methods highlights the potential for improving the detection of malignant breast lesions and provides a viable path for further study in this area.

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

Intrauterine onset syndromic short stature constitutes a group of diseases that pose challenges in differential diagnosis due to their rarity and clinical as well as molecular heterogeneity. The aim of this study was to investigate the presence of (epi)genetic causes in children born small for gestational age (SGA) and manifesting clinically undiagnosed syndromic short stature. The study group comprised twenty-nine cases selected from the syndromic SGA cohort. Various analyses were performed, including chromosomal microarray (CMA), methylation-specific-multiple ligation probe amplification for chromosomes 6,14 and 20, and whole exome sequencing (WES). Pathogenic copy number variants (CNVs) on chromosomes 2q13, 22q11.3, Xp22.33, 17q21.31, 19p13.13 and 4p16.31 causing syndromic growth disturbance were detected in six patients. Maternal uniparental disomy 14 was identified in a patient. WES was performed in the remaining 22 patients, revealing pathogenic variants in nine cases; six were monoallelic (ACAN, ARID2, NIPBL, PIK3R1, SMAD4, BRIP1), two were biallelic (BRCA2, RFWD3) and one was hemizygous (HUWE1). Seven of these were novel. Craniofacial dysmorphism, which is an important clue for the diagnosis of syndromes, was very mild in all patients. This study unveiled, for the first time, that ARID2 mutatios can cause syndromic SGA. In conclusion, a high (55.2%) diagnosis rate was achieved through the utilization of CMA, epigenetic and WES analyzes; 15 rare syndromes were defined, who were born with SGA and had atypical and/or mild dysmorphic findings. This study not only drew attention to the association of some rare syndromes with SGA, but also introduced novel genes and CNVs as potential contributors to syndromic SGA.

Integrative single-cell analysis of cardiac and pulmonary sarcoidosis using publicly available cardiac and bronchoalveolar lavage fluid sequencing datasets.

Cardiac presentation of autoimmune sarcoidosis, known as cardiac sarcoidosis (CS), is a poorly understood disease with high mortality and low diagnosis rate. While CS is an immunological syndrome, little is known about how cardiac parenchymal and stromal cells mediate its pathogenesis. Moreover, while most current sarcoidosis research is based on research in pulmonary sarcoidosis (PS), it remains unclear how much both presentations of sarcoidosis overlap. To tackle these concerns, we leveraged publicly available sarcoidosis transcriptomic datasets. Two publicly available bronchoalveolar lavage single-cell RNA sequencing datasets were integrated to analyze PS relative to control. Additionally, two publicly available cardiac single-nucleus RNA sequencing datasets were integrated to analyze CS relative to control. Following integration, we ran cell-cell communication, transcription factor, and differential expression analyses on parenchymal, stromal, and immune subsets identified in our analysis. Our analysis revealed that there was an expansion of stromal and immune cells in PS and CS. We also observed upregulation of Th17.1 and attenuated activation transcriptional profiles in the immune cells of CS and PS relative to control. Additionally, we found upregulation of pro-inflammatory and pro-fibrotic transcriptional profiles in the cardiac stromal cells of CS relative to control. We also found that cardiomyocytes exhibited upregulated cardiac stress and proliferation transcriptional profiles in CS relative to control. Our integrative transcriptomic analysis shows that despite tissue-specific differences, there are shared transcriptional trends between CS and PS. It also shows that stromal and parenchymal populations exhibit transcriptional trends that could explain their pathogenic role in CS.

An Outcome Comparison Between Geriatric and Nongeriatric Emergency Departments

We sought to describe diagnosis rates and compare common process outcomes between geriatric emergency departments (EDs) and nongeriatric EDs participating in the American College of Emergency Physicians Clinical Emergency Data Registry (CEDR). We conducted an observational study of ED visits in calendar year 2021 within the CEDR by older adults. The analytic sample included 6,444,110 visits at 38 geriatric EDs and 152 matched nongeriatric EDs, with the geriatric ED status determined based on linkage to the American College of Emergency Physicians' Geriatric ED Accreditation program. Stratified by age, we assessed diagnosis rates (X/1000) for 4 common geriatric syndrome conditions and a set of common process outcomes including the ED length of stay, discharge rates, and 72-hour revisit rates. Across all age categories, geriatric EDs had higher diagnosis rates than nongeriatric EDs for 3 of the 4 following geriatric syndrome conditions of interest: urinary tract infection, dementia, and delirium/altered mental status. The median ED site-level length of stay for older adults was lower at geriatric EDs compared with that at nongeriatric EDs, whereas 72-hour revisit rates were similar across all age categories. Geriatric EDs exhibited a median discharge rate of 67.5% for adults aged 65 to 74 years, 60.8% for adults aged 75 to 84 years, and 55.6% for adults aged >85 years. Comparatively, the median discharge rate at nongeriatric ED sites was 69.0% for adults aged 65 to 74 years, 64.2% for adults aged 75 to 84 years, and 61.3% for adults aged >85 years. Geriatric EDs had higher geriatric syndrome diagnosis rates, lower ED lengths of stay, and similar discharge and 72-hour revisit rates when compared with nongeriatric EDs in the CEDR. These findings provide the first benchmarks for emergency care process outcomes in geriatric EDs compared with nongeriatric EDs.

P-770 Risk factors for placenta accreta spectrum among pregnant women conceived with assisted reproductive technology

Abstract Study question What are the risk factors for placenta accreta spectrum (PAS) among women conceived with assisted reproductive technology (ART)? Summary answer The risk of PAS was associated with elevated estradiol and progesterone levels during COH, and HRT protocol, and abnormal endometrial thickness when preforming FET. What is known already Increasing evidence suggests an association between ART and PAS. Some studies have reported a high rate of diagnosis of PAS after embryo transfer compared to those with spontaneous conception. Despite this, little is known about the detailed risk factors for PAS during the procedures of ART. Study design, size, duration This retrospective case-control study included 1541 pregnant women with live birth conceived ART between 2013 and 2019 in a university hospital. Participants/materials, setting, methods Pregnant women were categorized into case and control group according to the postpartum diagnosis of PAS. The associations between PAS and ART procedures were estimated using multivariate logistic regression, and represented as adjusted odds ratio (aOR) and 95% confidential interval (CI). Main results and the role of chance Among all pregnant women in this study, 118 were delivered with PAS, and 1423 were delivered without PAS. During the procedures of COH and oocytes retrieval, elevated levels of estradiol (aOR=1.03, 95% CI: 1.01-1.06) and progesterone (aOR=1.02, 95% CI: 1.00-1.04) were found to be associated with the risk of PAS. The number of oocytes retrieved over 10 were also found to have an association with PAS (aOR=1.58, 95% CI: 1.05-2.37). Additionally, FET was another risk factor forPAS (aOR=1.93, 95% CI: 1.06-3.51). Among pregnant women with FET, preparing the endometrium using HRT protocol increased the risk of PAS (aOR=2.46, 95% CI: 1.57-3.84). Notably, PAS was also found to have an association with abnormal endometrial thickness after preparing the endometrium, whether too thin (&amp;lt;7mm: aOR=15.90, 95% CI: 4.42-57.21) or too thick (&amp;gt;14mm: aOR=6.56, 95% CI: 1.84-23.45). Limitations, reasons for caution As a hospital-based study, several confounders related to medical procedures have been taken into consideration. However, it is not possible to rule out unknown confounders. Wider implications of the findings Caution is warranted when preforming COH, and endometrial preparation before FET due to the increased risk of PAS after deliveries. Trial registration number NA

#3320 GENETIC TESTING FOR MOLECULAR DIAGNOSIS OF NEPHROLITHIASIS AND NEPHROCALCINOSIS IN ADULT PATIENTS: A SINGLE-CENTER COHORT

Abstract Background and Aims Hereditary factors represent an important cause of nephrolithiasis which will generate stone disease in adult. Molecular analysis in patients with nephrolithiasis (NL) and/or nephrocalcinosis (NC) for a genetic mutation has become more accessible and the benefits are highlighted by an increasing number of publications. The aim of the paper was to study genetic screening for 36 NL and/or NC patients in order to identify the cases that can be confirmed by mutations in known kidney stone genes. Method Between 2020–2022 we included 35 adult patients with NL/NC with onset on pediatric age or in young adults, plus one of the following criteria: family history for NL/NC, indicative phenotype, recurrent NL. All the patients were diagnosed with NL and/or NC by ultrasound or computed tomography scan. Inform consent was signed and dated before blood samples and we performed genetic testing using nephrolithiasis panel (that include 45 genes) from 2 laboratories. In addition, we performed clinical assessment in a multidisciplinary team, underwent metabolic assessment, and caring out the genealogical tree. Results The study included 18 females and 17 males. The mean age of studied patients was 34.9 ± 10.3 years (range 18 – 54 years), although mean age of NL/NC diagnosis was 19.4 ± 12.0 years (range 0.5 – 34 years). 29 patients presented NL of any type, 12 patients presented both NL and NC, and 3 patients isolated NC. All the patients presented positive family history of NL/NC, 17 (48.5%) patients had pediatric age of onset, 17 (48.5%) patients presented indicative phenotype and 19 (54.2%) recurrent stone disease. Causative monogenic mutations were detected in 25 of 35 NL/NC. We identified 20 deleterious variants in 12 out of 45 analyzed genes. Genetic testing was positive with a definite diagnosis (had pathogenic variant) in 17 (48.6%) of cases, while 3 (8.6%) patients presented likely pathogenic variants, and 5 (14.3%) patients had variants of uncertain significance (VUS). In our cohort, the most common cause of kidney stone disease was cystine nephrolithiasis in 8 (22.8%) patients, followed by hereditary distal renal tubular acidosis in 4 patients, Dent disease in 3 patients, primary hyperoxaluria type 1 in 2 patients, familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in 2 patients. Other causes of kidney stone disease included: renal hypouricemia type 1, hereditary hypophosphatemic rickets with hypercalciuria, primary mitochondrial disorders, autosomal dominant familial idiopathic hypercalciuria, Bartter syndrome type 3, and autosomal dominant tubulo-interstitial disease with hyperuricemia. Pathogenic mutations were detected in the following 5 dominant disease genes: SLC7A9 (4 patients), SLC4A1 (3 patients), ADCY10 (1 patient), HNF1B (2 patients), POLG (1 patient). Also, we identified pathogenic mutations in the following 7 recessive disease genes: CLCN5 (3 patients), AGXT (2 patients), CLDN16 (2 patients), SLC3A1 (3 patients), SLC34A3 (1 patient), WDR72 (1 patient), CLCNKB (1 patient). The mean eGFR for the study group was 71.2 ± 37.6 ml/min/1.72 m2. Seventeen patients presented eGFR &amp;lt; 60 ml/min/1.73 m2: seven patients CKD stage 3, four patients CKD stage 4, two patients CKD stage 5, and two patients were with renal replacement therapy. Conclusion Genetic kidney stone disease is an underdiagnosed condition. Although 48.5% of the patients had NL/NC onset on pediatric age, the molecular diagnosis was performed in adulthood, and, for some of them, when they suffer of advanced kidney disease. In our cohort, genetic testing had a high rate of positive molecular diagnosis of NL/NC due to selection criteria. Five of our patients presented VUS, but with disease-specific phenotype. We emphasize the importance of reporting these cases to generate additional evidence that could allow the reclassification of these variants. We conclude that the molecular diagnosis improves patient management, prevent or delay chronic kidney disease, offer possibility of genetic counseling and an extended screening to the family. Thus, our study showed the potential benefits of genetic testing, especially in high-risk groups for stone disease.