Diagnosis Of Disease Research Articles

Protein-bridged size-permeable DNAzyme@PEG hollow nanosphere reactor facilitates direct and rapid monitoring of trace circulating microRNAs in undiluted cancer patient serums

The direct monitoring of low levels of circulating microRNAs (miRNAs) in undiluted human serums is of significant clinical importance for the diagnosis of different diseases in the early stages; however, this is highly challenged by both the short lengths, low abundance and homogeneity nature of miRNAs and the complicated sample matrix of human serums. In this work, we show the synthesis of a new protein-bridged and size-permeable DNAzyme@PEG hollow nanosphere reactor (p-DPHNR) that enables direct and rapid detection of trace circulating microRNAs in undiluted serums from prostate carcinoma patients. The hydrophilic PEG shell of p-DPHNR efficiently reduces protein adsorption; its size-permeability only allows short miRNAs to enter the core cavity and protects the core DNA signal probes from digestion; and the confinement of the NIR signal amplification DNA probes in the nanosphere core accelerates the reaction kinetics and minimizes the serum background fluorescence. Such p-DPHNR exhibits a 1.8 pM detection limit with a short 20 min assay time for miRNA-141 and can realize clear discrimination of prostate carcinoma patients from healthy donors, thereby manifesting its robust clinical applications for the convenient and early diagnosis of various diseases

'A potentially ticking time bomb' - barriers for prevention, diagnosis, and treatment of cardiovascular disease in people with intellectual disabilities.

Research suggests that people with intellectual disabilities have a higher risk for cardiovascular disease than the general population. The aim of this study was to identify barriers for the prevention, diagnosis, and treatment of cardiovascular disease for people with intellectual disabilities. We conducted individual interviews with relatives and general practitioners and focus group interviews with staff working at an assisted home facility, a cardiac ward, an obesity clinic and two rehabilitation centres (n = 33) in Norway. Inductive approach and thematic analysis were used to analyse the data. We identified barriers on an individual and a structural level. The underlying reason for these barriers is that health problems, such as cardiovascular disease, are regularly overlooked as the condition of intellectual disability overshadows other possible diagnoses. This focus on intellectual disability rather than other explanations leads to shortcomings in the prevention, diagnoses, and treatment of cardiovascular disease in this group.

Recent Advances in Fluorescent Probes for G-quadruplex DNAs / RNAs.

Guanine-quadruplexes (G4s) are high-level structures formed by the folding of guaninerich nucleic acid sequences. G4s play important roles in various physiological processes, such as gene transcription, replication, recombination, and maintenance of chromosomal stability. Specific and sensitive monitoring of G4s lays the foundation for further understanding the structure, content, distribution, and function of G4s in organisms, which is important for the treatment and diagnosis of diseases. Moreover, visualization of G4s will provide new ideas for developing antitumor strategies targeting G4s. The design and development of G4-specific ligands are challenging due to the subtle differences in the structure of G4s. This review focuses on the progress of research on G4 fluorescent probes and their binding mechanisms to G4s. Finally, the challenges and future prospects for better detection and targeting of G4s in different organisms are discussed. This paper provides ideas for the development of novel G4 fluorescent probes.

A novel dual-function fluorescence sensor Eu/CDs@MOF-808 for the sensitive detection of adenosine triphosphate and uric acid

Designing and developing a reliable method for the detection of potential biomarker molecules are crucial for the early prevention and diagnosis of diseases. In this study, we present a novel functionalized metal–organic framework material (MOF-808) that is developed to construct ratiometric fluorescence sensing platforms (Eu/CDs@MOF-808) for the detection of adenosine triphosphate (ATP) and uric acid (UA). The fluorescent probe Eu/CDs@MOF-808 prepared through the in-situ encapsulation of fluorescent carbon dots (CDs) within the structure of MOF-808 exhibits excellent optical properties. Additionally, rare earth ions (Eu3+) are incorporated into the CDs@MOF-808 using a post-synthetic modification strategy. The presence of ATP significantly enhances the characteristic peak of carbon dots (CDs) at 440 nm, while the peak of Eu3+ at 614 nm remains relatively unchanged. Furthermore, the concentration of ATP exhibits a strong linear relationship with the ratiometric fluorescence intensity (F440/F614) in the concentration range of 0.5–450 μM, with a detection limit of 0.22 μM. Notably, the addition of uric acid (UA) to this fluorescence sensing platform leads to a marked reduction in the characteristic peak intensity of Eu3+, which results in a satisfactory linear relationship between the ratiometric fluorescence intensity and UA concentration in the concentration ranges of 0.04–300 μM and 300–650 μM, with a detection limit of 0.04 μM. Additionally, the fluorescent sensor has been successfully applied for the detection of ATP and UA in real serum and urine samples.

Simultaneous diagnosis of adult-onset Still's disease and lymphoma: A case report and systematic review of the literature.

Differentiating Adult-Onset Still's Disease (AOSD) from lymphoma is challenging. A 23-year-old female presented with polyarthralgia, fever, rash, lymphadenopathy, and abnormal labs. She met AOSD criteria and was diagnosed with non-Hodgkin lymphoma. Treatment led to improvement. The differentiation between Adult-onset Still's Disease (AOSD) and lymphoma remains challenging in our context. The Faustrel score facilitates the simultaneous diagnosis of these conditions. A 23-year-old woman presented with chronic polyarthralgia in a febrile context. A physical examination revealed peripheral joint syndrome, a maculopapular rash on the trunk, and peripheral lymphadenopathy. Laboratory tests showed neutrophils leukocytosis, hyperferritinemia, and a glycosylated ferritin fraction of 12%. A lymph node biopsy revealed a malignant non-Hodgkin lymphoma, and the patient met the diagnostic criteria for AOSD according to Faustrel. She received corticosteroid therapy and four courses of Rituximab. After 6 months, clinical and biological improvements were noted. It is essential to consider the possibility of an association between atypical clinical presentations of lymphoma and AOSD.

Perioperative Management of Pediatric Combined Heart and Liver Transplantation: A 17 year single center experience.

An increasing number of centers are undertaking combined heart and liver transplantation in adult and pediatric patients with congenital heart disease. The primary aim of this study was to describe the perioperative management of a single center cohort, identifying challenges and potential solutions. We conducted a retrospective review of all patients undergoing combined heart and liver transplantation at Stanford Children's Hospital from 2006 to 2022. Preoperative information included cardiac diagnosis, hemodynamics, and severity of liver disease. Intraoperative data included length of surgery, cardiopulmonary bypass time, and blood products transfused. Postoperative data included blood products transfused in the intensive care unit, time to extubation, length of intensive care unit stay, survival outcomes and 30-day adverse events. Eighteen patients underwent en bloc combined heart and liver transplantation at Stanford Children's Hospital from 2006 to 2022, and the majority 15 (83%) were transplanted for failing Fontan circulation with Fontan Associated Liver Disease. Median surgical procedure time was 13.4 [11.5, 14.5] h with a cardiopulmonary bypass time of 4.3 [3.9, 5.8] h. Median total blood products transfused in the operating room post cardiopulmonary bypass was 89.4 [63.9, 127.0] mLs/kg. Nine patients (50%) had vasoplegia during cardiopulmonary bypass. Activated prothrombin complex concentrates were used post cardiopulmonary bypass in 15 (83%) patients with a 30-day thromboembolism rate of 22%. Median time to extubation was 4.0 [2.8, 6.5] days, median intensive care unit length of stay 20.0 [7.8, 48.3] days and median hospital length of stay 54.0 [30.5, 68.3] days. Incidence of renal replacement therapy was 11%; however, none required renal replacement therapy by the time of hospital discharge. Neurological events within 30 days were 17% and the 30 day and 1 year survival was 89%. Perioperative challenges include major perioperative bleeding, unstable hemodynamics, and end organ injury including acute kidney injury and neurological events. Successful outcomes for en bloc combined heart and liver transplantation are possible with careful multidisciplinary planning, communication, patient selection, and integrated peri-operative management.

Comparison of the Efficacy of Cephalosporins and Non-cephalosporins in Preventing Surgical Site Infections in Colorectal Surgery Patients: An Updated Systematic Review and Meta-Analysis.

This study aims to compare the efficacy of cephalosporin and non-cephalosporin antibiotics in preventing surgical site infections (SSIs) in patients undergoing colorectal surgery, providing a scientific basis for the selection of perioperative antibiotics through systematic review and meta-analysis. Adhering to the PRISMA guidelines, this research employed an extensive literature search strategy across multiple databases to identify relevant studies, including randomized controlled trials (RCTs) and observational studies. Inclusion criteria were studies on adults undergoing colorectal surgery who received preoperative prophylaxis with either cephalosporin or non-cephalosporin antibiotics. Exclusion criteria included preoperative diagnosis of infectious diseases and preoperative use of antimicrobial agents. Meta-analysis was conducted using RevMan 5.3 software to assess the effectiveness of both antibiotic classes in preventing SSIs, including subgroup analyses. Eight studies met the inclusion criteria, comprising 872 patients. Meta-analysis revealed that the incidence of SSI in the cephalosporin group was lower than in the non-cephalosporin group (14.8% vs 25.1%), with statistical significance (OR = 1.94, 95% CI: 1.38-2.74, PP = =0.0001). However, no significant difference in SSI risk was observed between the groups within 30days (OR = =1.92, 95% CI: 1.08-3.42). Subgroup analysis indicated that higher-quality studies were associated with larger effect sizes. This study suggests that cephalosporin antibiotics may be superior to non-cephalosporins in preventing SSIs following colorectal surgery, especially in the short term. However, their long-term efficacy in SSI prevention may be similar. The selection of perioperative antibiotics should consider factors such as the antimicrobial spectrum, pharmacokinetic properties, and bacterial resistance.

IGLON5 Frequency in Idiopathic REM Sleep Behavior Disorder: A Multicenter Study.

Idiopathic/isolated REM sleep behavior disorder (iRBD) has been strongly linked to neurodegenerative synucleinopathies such as Parkinson disease, dementia with Lewy bodies, and multiple system atrophy. However, there have been increasing reports of RBD as a presenting feature of serious and treatable autoimmune syndromes, particularly IGLON5. This study's objective was to investigate the frequency of autoantibodies in a large cohort of participants with iRBD. Participants were enrolled in the North American Prodromal Synucleinopathy cohort with polysomnography-confirmed iRBD, free of parkinsonism and dementia. Plasma samples were systematically screened for the autoantibodies IGLON5, DPPX, LGI1, and CASPR2 using plasma IgG cell-based assay. Positive or equivocal results were confirmed by repeat testing, plus tissue-based indirect immunofluorescence assay for IGLON5. Of 339 samples analyzed, 3 participants (0.9%) had confirmed positive IGLON5 autoantibodies in the cell-based assay, which were confirmed by the tissue-based assay. An additional participant was positive for CASPR2 with low titer by cell-based assay only (of lower clinical certainty). These cases exhibited a variety of symptoms including dream enactment, cognitive decline, autonomic dysfunction, and motor symptoms. In 1 IGLON5 case and the CASPR2 case, evolution was suggestive of typical synucleinopathy, suggesting the possibility that findings were incidental. However, 2 participants with IGLON5 died before diagnosis was clinically suspected, with a final clinical picture highly suggestive of autoimmune disease. Our finding that nearly 1% of a large iRBD cohort may have a serious but potentially treatable autoantibody syndrome has important clinical implications. In particular, it raises the question of whether autoantibody testing for IGLON-5-IgG should be widely implemented for participants with iRBD, considering the difficulty in diagnosis of autoimmune diseases, their response to treatment, and the potential for rapid disease progression. However, any routine testing protocol will also have to consider costs and potential adverse effects of false-positive findings. NCT03623672.

Morphometric Evaluation of the Thoracic and Lumbar Vertebral Canal and Spinal Cord Using Computed Tomography in Healthy Korean Shorthair Cats.

This study aimed to evaluate the spinal morphometry of the thoracic and lumbar regions in normal Korean Shorthair cats using computed tomography (CT) and to investigate the relationship with variables such as sex, age and body weight. Fifteen clinically healthy Korean Shorthair cats (eight males, seven females) from Seoul National University Veterinary Medical Teaching Hospital were included in this retrospective study. Measurements of the height, width and area of the vertebral canal and spinal cord on CT images were taken at the cranial, middle and caudal points of the thoracic and lumbar vertebrae by three observers, and the ratios of the spinal cord area to the vertebral canal area were calculated. The significance of the differences in measurements between sexes and correlations with age and body weight were analysed. The mean age of the cats was 7 years (range: 2-12 years), with a mean weight of 5.27 kg (range: 2.6-8.3 kg). The height, width and area of the vertebral canal and spinal cord were significantly greater in males than in females (p < 0.05). The ratios of the spinal cord area to the vertebral canal area showed no significant difference between sexes (p > 0.05), and no significant correlations were found between the ratios of the spinal cord area to the vertebral canal area and age or body weight. This study provides useful reference intervals for spinal morphometry in the thoracic and lumbar regions of healthy Korean Shorthair cats and investigate the relationship with variables such as sex, age and body weight. This anatomical information may assist in the diagnosis and prognosis of thoracic, lumbar vertebral and spinal cord diseases using CT.

Diagnosis and management of diverticular disease in primary care.

Diagnosis and management of diverticular disease in primary care.

Gestational diabetes mellitus, body mass index, and cardiometabolic multimorbidity: a prospective cohort study

PurposeGestational diabetes mellitus (GDM) could increase the risks of type 2 diabetes mellitus (T2DM) and cardiovascular disease. However, evidence on its association with cardiometabolic multimorbidity (CMM) was limited. This study aimed to evaluate the association between GDM and the prevalence, incidence, patterns, and progression of CMM; and the role of body mass index (BMI) in such association. MethodsThis study included 203,372 women who have given birth in UK Biobank. The diagnoses of GDM and cardiometabolic diseases (including stroke, coronary heart disease [CHD], and T2DM) were reported by participants or obtained through linkage to inpatient hospital data until 31st December 2020. BMI was assessed at the baseline assessment. CMM was defined as having two or more of included cardiometabolic diseases. Logistic regression models and Cox proportional hazard models were used to assess the association between GDM and CMM, and the modifications on both additive and multiplicative scales were assessed to evaluate the effect of BMI on such association. ResultsA total of 1,217 women had a history of GDM, 2,351 participants had CMM at the end of follow-up and 1,601 was newly diagnosed during follow-up. GDM was associated with higher prevalence (odds ratio [OR]=4.64, 95% confidence interval [95% CI]=3.54-6.08) and incidence (hazard ratio [HR]=3.62, 95% CI=2.62-5.00) of CMM. In particular, GDM was associated with higher odds of T2DM, coexisting T2DM and vascular disease, and T2DM followed by vascular disease. Formal testing for effect modification suggested multiplicative modification by BMI for the association between GDM and incident CMM. ConclusionsGDM was associated with CMM in women’s late life, with multiplicative modification effects of BMI. Our results suggest that maternal and lifestyle interventions (e.g., weight management) are warranted for the primary and secondary prevention of CMM, particularly in women with a history of GDM.

Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

The diagnosis and management of metabolic bone disease among children can be challenging. This difficulty could be due to many factors, including limited awareness of these rare conditions, the complex pathophysiology of calcium and phosphate homeostasis, the overlapping phenotype with more common disorders (such as rickets), and the lack of specific treatments for these rare disorders. As a result, affected individuals could experience delayed diagnosis or misdiagnosis, leading to improper management. In this review, we describe the challenges facing diagnostic and therapeutic approaches to two metabolic bone disorders (MBD) among children: hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). We focus on explaining the pathophysiological processes that conceptually underpin novel therapeutic approaches, as well as these conditions' clinical or radiological similarity to nutritional rickets. Particularly in areas with limited sun exposure and among patients not supplementing vitamin D, nutritional rickets are still more common than HPP and XLH, and pediatricians and primary physicians frequently encounter this disorder in their practices. More recently, our understanding of these disorders has significantly improved, leading to the development of novel therapies. Asfotas alfa, a recombinant, human- tissue, nonspecific alkaline phosphatase, improved the survival of patients with HPP. Burosumab, a human monoclonal anti-FGF23 antibody, was recently approved as a specific therapy for XLH. We also highlight the current evidence on these two specific therapies' safety and effectiveness, though long-term data are still needed. Both HPP and XLH are multisystemic disorders that should be managed by multidisciplinary teams. Finally, recognizing these conditions in early stages will enable affected children and young adults to benefit from newly introduced, specific therapies.

Diagnosis and management of diverticular disease in primary care.

Each year, more than 1 million ambulatory patient visits occur for diverticular disease, with nearly 75% of these patients seen in outpatient clinics. Although diverticulitis historically had been considered a disease of the older adult, it has become increasingly prevalent among the younger population. Likewise, in the past, antibiotics were considered first-line treatment for uncomplicated diverticulitis (Hinchey classification 0 and Ia); however, two large clinical trials compared treatment with antibiotics versus without antibiotics in uncomplicated cases of the disease and found no significant difference in patient outcomes. Based on these findings, first-line management now constitutes clear-liquid diet along with bowel rest for resolution of symptoms in these patients. Proper management with lifestyle modifications can help prevent complications and improve outcomes for patients with this condition; patient education is therefore critical.

The Effect of Coronavirus Pandemic on the Treatment of Gynecological and Breast Cancers

Introduction: During the COVID-19 pandemic, various groups, including women with cancer, were affected as a high-risk group in terms of disease diagnosis and treatment. Despite the importance of therapeutic changes in cancers, such as breast and gynecological cancer, there is no comprehensive study in this regard that also refers to the coronavirus. The need for a deep understanding of the impact of coronavirus on the treatment plan of this group of patients caused the researcher to design and implement this study that aims to investigate the treatment challenge among cancer patients during the COVID-19 pandemic. Materials and methods: To answer the study question, a comprehensive search was carried out in databases, such as PubMed, Web of Science Core Collection, and Scopus, using keywords, including cancer, gynecologic cancer, breast cancer, treatment, delay, and modification. Full-texted, English language and original articles were included in this study. Results: In total, 27 articles were selected for the study. The findings of this study revealed that COVID-19 greatly affects the treatment of gynecology and breast cancer. These patients experience delay or modification of cancer treatment. Increased time between diagnosis and treatment, delay, change or cancellation of surgery and change in treatment plan are the most important changes in cancer treatment during the COVID-19 pandemic. Conclusion: The COVID-19 pandemic has had a significant impact on various aspects of gynecology and breast cancer care worldwide. In the current pandemic, there has been a significant delay in the diagnosis and treatment of gynecological and breast cancer, which, due to its higher morbidity and mortality, has made the condition more difficult for cancer patients and treatment teams.

Anti-interferon gamma-inducible protein 16 antibodies: Identification of a novel autoantigen in idiopathic interstitial pneumonia and its clinical characteristics based on a multicenter cohort study

Autoantibodies are detected in idiopathic interstitial pneumonias (IIPs) without a clear connective tissue disease diagnosis, and their clinical significance is unclear. This study aimed to identify a novel autoantibody in IIPs. We screened 295 IIP patients using a 35S-methionine labeled protein immunoprecipitation assay. Candidate autoantigens were identified via protein array and confirmed by immunoprecipitation. Six sera from 295 IIP patients immunoprecipitated common tetrameric proteins (100 kDa). The protein array identified interferon gamma-inducible protein 16 (IFI16) as the candidate autoantigen. Patients with anti-IFI16 antibodies received immunosuppressants less frequently. Five-year survival rates were 50 %, 69 %, and 63 % (P = 0.60), and acute exacerbation-free rates were 50 %, 96 %, and 84 % (P = 0.15) for patients with anti-IFI16, anti-aminoacyl tRNA antibodies, and others. Anti-IFI16 is a novel autoantibody in IIPs. Patients with this antibody often receive less immunosuppressive therapy and could have a poor prognosis. Further research is needed to refine patient stratification and management.

MOF nanoflowers-based flexible portable NO sensors for human airway inflammation detection

The concentration of nitric oxide (NO) in exhaled breath is linked to respiratory diseases, requiring precise detection. Traditional two-dimensional (2D) carbon-based materials used in chemiresistive gas sensors suffer from high detection limits due to a lack of functional sites, while metal oxide sensors are limited by poor selectivity and high operating temperatures, restricting their development. Recently, metal–organic frameworks (MOFs) have emerged as an effective material for NO monitoring due to their superior selectivity; however, their inherent insulating properties hinder practical use. In this study, we synthesized Ni, Co-MOF-74-Carbon Nanotube (CNT) heterostructured nanoflowers, leveraging their bimetallic active sites and large specific surface area to enhance NO adsorption. This composite material, integrated with breathable nanofibrous membranes through physical deposition, exhibits high selection to NO, achieving a linear response range of 30 to 1000 ppb at room temperature and a limit of detection (LOD) of 18.6 ppb. This sensor can accurately detect NO levels in the exhaled breath of both healthy and diseased individuals, confirming its potential for respiratory disease diagnosis. Additionally, we developed a portable device integrating the Ni, Co-MOF-74-CNT- polyacrylonitrile (PAN) membrane, a microcontroller unit (MCU), and a Bluetooth module for real-time NO detection. The systematic design and successful validation of this portable gas sensor pave the way for future home-based real-time monitoring of airway inflammation.

FTO in oral diseases: Functions, mechanisms, and therapeutic potential.

Fat mass and obesity-associated protein (FTO) is the first identified N6-methyladenosine (m6A) demethylase widely distributed in various tissues in adults and children. It plays an essential role in diverse mRNA-associated processes including transcriptional stability, selective splicing, mRNA translocation, and also protein translation. Recently, emerging studies have shown that FTO is involved in the genesis and development of oral diseases. However, the correlation between FTO and oral diseases and its specific regulatory mechanism still needs further study. In this review, we will summarize the discovery, distribution, gene expression, protein structure, biological functions, inhibitors, and quantifying methods of FTO, as well as its regulatory role and mechanism in oral diseases. Notably, FTO genetic variants are strongly associated with periodontal diseases (PDs), temporomandibular joint osteoarthritis (TMJOA), and obstructive sleep apnea (OSA). Besides, the latest studies that describe the relationship between FTO and PDs, head and neck squamous cell carcinoma (HNSCCs), TMJOA, and OSA will be discussed. We elaborate on the regulatory roles of FTO in PDs, HNSCCs, and TMJOA, which are modulated through cell proliferation, cell migration, apoptosis, bone metabolism, and immune response. The review will enrich our understanding of RNA epigenetic modifications in oral diseases and present a solid theoretical foundation for FTO to serve as a novel diagnosis and prognostic biomarker for oral diseases.

Machine learning techniques for diagnosis of rare diseases from medical images

Introduction/Background: Rare diseases are life-threatening or chronically debilitating conditions that affect a small percentage of the population. Early and accurate diagnosis of rare diseases is challenging due to their complexity and limited understanding. Conventional diagnostic methods are often inadequate, time-consuming, and expensive. Machine learning (ML) has emerged as a promising technique for the analysis of medical images to support the diagnosis of various diseases including rare disorders. ML algorithms can learn complex patterns from large medical imaging datasets to aid clinicians in disease diagnosis, prognosis, and detection of complications. Materials and Methods: A structured search was conducted in electronic databases, including PubMed, Scopus, Web of Science, and Google Scholar to identify peer-reviewed articles published between 2013 to 2023 related to ML-based diagnosis of rare diseases from medical images. A total of 187 articles were identified after removing duplicates. The titles and abstracts of retrieved articles were screened to determine their relevance based on the research objective. Finally, 51 full-text articles were selected for the final review. The key data extracted from selected studies included diseases, imaging modalities, ML algorithms, performance metrics, datasets, and limitations. Results: Most studies evaluated deep learning-based ML techniques, with convolutional neural networks (CNN) being the most applied algorithm. CNNs were mainly used to classify rare diseases based on specific imaging features in X-rays, CT, and MRI scans. Diseases frequently investigated included cardiovascular, neurological, and rare genetic disorders. Publicly available datasets such as Deep Lesion, MSD, and ChestX-ray14 were commonly utilized. Most studies reported high classification accuracy ranging from 80-95% on test datasets. However, limited generalizability due to small private datasets and lack of external validation were limitations. Discussion: The results demonstrate the potential of deep learning for the image-based diagnosis of rare diseases. Features learned from large imaging data sets enabled CNNs to distinguish subtle abnormalities. Hybrid models combining CNNs with other techniques like recurrent neural networks further improved performance. Overall, ML showed promise as a decision support tool. However, more multi-center validation studies are needed using larger and diverse datasets before clinical adoption. Standardization of performance metrics and reporting is also required to establish reliability and generalizability. Conclusion: This comprehensive review provided insights into ongoing research applying ML to medical images for rare disease diagnosis. While initial results are encouraging, further work is still necessary before ML can be reliably used in clinical decision making. Larger collaborative efforts and open-source datasets are needed to advance the field. Standardization of ML frameworks can also promote reproducible research and comparison of different methodologies.

Contemporary prenatal diagnosis of congenital heart disease in a regional perinatal center lacking onsite pediatric cardiac surgery: obstetrical and neonatal outcomes.

Determine obstetrical and neonatal outcomes in neonates with major CHD delivered at a level IV neonatal intensive care units (NICU) center lacking onsite pediatric cardiac surgery. A 10- year retrospective review of all neonates admitted to our level IV NICU, with CHD between January 1st, 2011 and December 31st, 2021. Births and NICU charts were cross queried with those from our perinatal center which include pediatric cardiology records. Terminations and stillbirths were excluded. A total of 285 neonates with major CHD and 78 withminor defects were included. In the major CHD group, 82.8 % had an isolated cardiac anomaly and 17.2 % had an extracardiac anomaly. Type of extracardiac anomaly had noimpact on neonatal survival. Prenatal diagnosis of aneuploidy did not impact survival in major CHD. Truncus arteriosus had the highest NICU mortality at 34.0 % followed by hypoplastic left heart syndrome (HLHS) at 31.6 %. Double outlet right ventricle with transposition of the great vessels and interrupted aortic arch (both types) had a 25 % mortality. Neonates with truncus arteriosus and total anomalous pulmonary venous returns were likely to have 5-min Apgar score<7. Transfer rate of neonates with major CHD for cardiac surgery was 58.6 %. Of those 81.5 % were discharged home, 14.3 % expired before discharge, and 1 % were transferred elsewhere post-operatively for higher level of care. Neonates with major CHD can deliver safely at a level IV NICU lacking onsite pediatric cardiac surgery. Our neonatal mortality was high for HLHS and truncus arteriosus, however comparable to other centers with proximate pediatric cardiac surgery.

Differences in Prevalence and Psychosocial Characteristics of Irritable Bowel Syndrome According to Rome III and Rome IV Criteria in Medical and Nursing Students.

In Korea, changes in the prevalence of irritable bowel syndrome (IBS) after the Rome IV update have not been extensively studied. The aim of this study is to compare the prevalence and psychosocial risk factors of IBS according to Rome III and Rome IV criteria in medical and nursing students. From August 13, 2021 to October 22, 2021, participants were enrolled and surveyed online. The survey includes general and specific questions for disease diagnosis and regarding participants' social and psychological characteristics using the 36-item short form survey, the Brief Encounter Psychosocial Instrument-Korean version, and the Hospital Anxiety and Depression Scale. In total, 338 medical students and 102 nursing students completed the survey. IBS was diagnosed in 78 students (17.7%) using Rome III criteria and in 51 students (11.6%) using Rome IV criteria. Significant differences in physical functioning score and severity score were observed between patients diagnosed using Rome IV criteria and patients diagnosed using Rome III criteria. Multiple logistic regression revealed that severity score (adjusted odds ratio = 1.01; 95% confidence interval: 1.00-1.21; P = 0.022) is the only predictor of IBS that differentiates Rome IV criteria from Rome III criteria. Even after updating the Rome IV diagnostic criteria, the prevalence of IBS in medical and nursing students in Korea remained high. Patients who met the Rome IV criteria had more severe symptoms and lower quality of life than patients who met the Rome III criteria.