Diagnosis Care Research Articles

Abstract 4136781: Stethoscopes to Sequencers: How Next Generation Sequencing Aids Pediatric Cardiac Intensive Care Diagnosis

Background: Despite a high burden of rare genetic diseases among children admitted to cardiac intensive care units (CICUs), comprehensive guidelines for genetic testing in children with heart disease, particularly those that are critically ill, are lacking. Traditional testing methods, such as karyotype, chromosomal microarray (CMA) and candidate gene panels, are often employed based on suspected diagnoses. Rapid advancements in next-generation sequencing (NGS) technologies allow for more comprehensive genetic evaluation which is already recommended for patients with ventricular dysfunction, primary arrhythmias, and pulmonary hypertension (PH). Broad application of NGS in intensive care settings for pediatric heart disease has not been extensively investigated. Aims: Evaluate diagnostic efficacy of NGS in critically ill pediatric patients with cardiac disease. Methods: Retrospective cohort of patients who underwent exome or genome sequencing in a pediatric CICU between January 2020 and August 2023. Results: Exome or genome sequencing was performed on 49 patients with median testing age of 46 days (IQR 7-609). Primary cardiac phenotypes included congenital heart disease, ventricular dysfunction, arrhythmia, and PH. Forty-two pathogenic or likely pathogenic variants were identified and 23 (46.9%) resulted in a genetic diagnosis, of those, 16 (69.6%) were associated with a cardiac phenotype. Positivity rate did not differ between primary cardiac phenotypes but was significantly higher when the patient had associated multiple congenital anomalies (Fig. 1). Genome sequencing trended towards a higher positivity rate (54.5%) than exome (31.3%), though did not meet statistical significance (Fig. 1). Notably, 84.6% and 38.5% of the identified pathogenic variants would have remained undetectable by CMA and many commercially available gene panels, respectively. Conclusion: Exome and genome sequencing demonstrate high diagnostic yield across isolated and non-isolated cardiac disease and various cardiac phenotypes with diagnostic efficacy surpassing CMA and many commercial gene panels. As NGS technologies evolve, they promise to streamline diagnoses and enhance therapeutic decision-making for this patient population.

Lymphangioleiomyomatosis: A Review.

Lymphangioleiomyomatosis is a rare multisystem disorder belonging to the family of neoplasms exhibiting perivascular epithelioid differentiation. It primarily affects women of childbearing age. The disease is characterized by a proliferation of smooth muscle-like cells (lymphangioleiomyomatosis cells) within all lung compartments, leading to cystic parenchymal destruction and, in some cases, respiratory failure. These cells carry mutations in one or both tuberous sclerosis (TSC) genes and coexpress smooth muscle and melanocytic markers. Female hormones, particularly estrogens, influence the course of the disease. Symptoms of lymphangioleiomyomatosis vary significantly among patients, ranging from exertional dyspnea and coughing to chest pain and recurrent pneumothorax. To present the latest advancements in the understanding of disease pathogenesis and diagnosis, illustrate the pathologic and radiologic findings, provide a reference for pathologists and other health care professionals, briefly discuss recent evidence-based therapeutic approaches, and emphasize the importance of adopting a multidisciplinary approach to diagnosis and optimization of patient care. A comprehensive review of pertinent medical literature published in the last 30 years, focusing on publications written in the English language, was performed. Despite the recent significant advancements in the understanding and management of lymphangioleiomyomatosis, there are still significant gaps in our knowledge of its pathophysiology and the role of the immune system in the genesis and progression of the disease. The current changes in diagnostic algorithms favor the adoption of minimally invasive procedures as the standard of care. As a result, the clinical laboratory will play a larger role in the diagnosis of lymphangioleiomyomatosis, and surgical pathologists will likely be less involved in the diagnosis of pulmonary lymphangioleiomyomatosis than they currently are.

Study protocol of an exercise and nutrition intervention for ovarian cancer patients during and after first-line chemotherapy (BENITA) - a randomized controlled trial.

In ovarian cancer frequently reported side effects are muscle wasting and malnutrition, leading to frailty, decreased health-related quality of life (HRQoL), and cancer-related fatigue (CRF). Both often begin during first-line chemotherapy and develop progressively into a refractory state, if left untreated. Primary objective is to evaluate effectiveness of a newly developed app-based exercise and nutrition program under non-standardized conditions of clinical routine. We hypothize that patients who receive an individually tailored exercise and nutrition program for six months will have improved physical performance compared to patients who receive usual care. This is a multicenter randomized controlled open-label trial comparing an intervention group receiving a six-month exercise and nutrition intervention and a control group receiving usual care. Primary endpoint is the change in 6-Minute Walk Test (6MWT) from baseline to T2 (26 weeks after baseline) as a measure of physical functioning. Secondary endpoints include patients' utilization and adherence to the nutrition program (MEDAS), their malnutrition risk (NRS2002), as well as patients' HRQoL (see Table1). Using the two-sample t-test with a two-sided type I error of 5% and 80% power, a medium effect size of Cohen's d = 0.50 can be demonstrated with a minimum of 128 participants (64 per group). With a conservatively estimated dropout rate of 30%, 182 patients will be recruited. Patients who are included must be over 18 years of age, be diagnosed with ovarian cancer, cancer of fallopian tubes, or peritoneal cancer, FIGO stages II-IV, receive surgery and chemotherapy (adjuvant or neoadjuvant). Exclusion criteria are an ECOG status greater than 2, inadequate proficiency in German, or physical or mental impairments hindering the implementation of the program or execution of study procedures. In case of success, the project contributes in the long term to (i) improving medical care (diagnosis, psychoeducation, patient orientation, and empowerment), (ii) reducing the burden of disease and promoting physical autonomy for patients, and (iii) being incorporated into relevant guidelines. The study was registered at ClinicalTrials.gov (NCT06250686).

Neoplasias mamária e esplênica em cadela

Regarding mammary and splenic neoplasms in dogs, the surgical therapeutic approach is often the method of choice, given its curative potential and the possibility of subsequent histopathological analysis. In veterinary medicine, the incidence of mammary neoplasms is high, especially in unneutered female dogs. Breast carcinoma in situ, with its histological particularities and clinical behavior, requires a careful diagnosis and a precise therapeutic approach, carrying out additional tests such as cytopathology and ultrasound to adequately define the treatment. Surgical excision, associated with the evaluation of adjacent healthy breast tissue, is essential to ensure complete removal of neoplastic tissue, plus it is also indicated to perform ovariohysterectomy (OVH) together with mastectomy. Spleen tumors are similarly common in dogs, especially hemangiosarcoma, which is notable for its aggressiveness and high metastatic rate. Therefore, early diagnosis and precise interventions are essential for a good prognosis, with the affected organ being often removed in its entirety. Therefore, we report the case of a female Shih-Tzu dog, 7 years old and weighing 4kg, who presented, upon palpation, a nodule in the left M3 measuring <1cm with absence of nodular secretion, change in color, itching local or galactorrhea. The patient was referred for regional mastectomy and OVH after cytological examination compatible with carcinoma and, in a pre-operative ultrasound examination, a singular hypoechoic nodular formation, discretely heterogeneous, vascularized on Doppler and in close contact with the splenic capsule was noted in the spleen in its medial parietal portion, measuring 0.96 cm in its longest axis. Thus, during intraoperative visual inspection after OVH and upon approval from the owner, it was decided to perform total splenectomy and, after histopathological examination, it was known that the organ was affected by hemangiosarcoma. The canine was discharged from the hospital a few hours after the end of the surgery, without the subsequent use of adjuvant therapies.

Access to psychological therapies amongst patients with a mental health diagnosis in primary care: a data linkage study.

Significant numbers of people in England have fallen into a gap between primary care psychological therapies and specialist mental health services. We aim to examine pathways to care by looking at demographic variation in detection and referral to primary and secondary psychological services in south London. Longitudinal descriptive study using a record linkage between a primary care database (Lambeth DataNet) and a secondary care mental health database (CRIS). We extracted data on mental health diagnosis, prescriptions and episodes of care in mental health services for all patients of working age registered from 1 January 2008 to 1 March 2018 (pre-covid era). Of those with a mental disorder detected in primary care (n = 110,419; 26.8%); 33.7% (n = 37,253) received no treatment; 21.3% (n = 23,548) exclusively accessed psychological treatment within NHS Talking Therapies and 7.6% accessed secondary care psychological therapies. People from minoritised groups were more likely to be prescribed psychotropic medication as the only treatment offered compared to the White British group. Men, Black African and Asian groups were less likely to access NHS Talking Therapies. People with a personality disorder diagnosis had the highest prevalence and number of NHS Talking Therapies treatment episodes (48.0%, n = 960), a similar percentage (44.1%, n = 881) received secondary care psychology treatment. Our study highlights marked inequalities in access to psychological therapies for men and people from some minoritised ethnic groups across primary and secondary care and how individuals with personality disorders are offered multiple short-term courses in NHS Talking Therapies even where this is not recommended treatment.

Gold Coast Criteria: A New Diagnostic Paradigm in the Era of Disease-Modifying Therapy for Amyotrophic Lateral Sclerosis

Significant progress has been made in the development of disease-modifying drugs for amyotrophic lateral sclerosis (ALS), with the introduction of tofersen, an antisense oligonucleotide drug for familial ALS, marking a turning point in the treatment. These drugs are most effective when administered early in the disease course, highlighting the need for improved diagnostic sensitivity. The 2020 Gold Coast Diagnostic Criteria allow ALS diagnosis in cases without upper motor neuron symptoms, potentially increasing early detection rates. However, careful differential diagnoses are necessary when applying these criteria to maintain diagnostic specificity. This review outlines the key points to consider when using the Gold Coast Criteria, balancing the need for an early diagnosis with caution to avoid overdiagnosis.

Modulating the organization of medical care and early diagnosis of prostate cancer

Aim. To analyze the existing system of medical care organization and timely diagnostics for prostate cancer (PC).Materials and Methods. The study utilized data from official statistics to analyze the system of medical care organization and the diagnostic methods applied for prostate cancer at different stages.Results. In the country, medical care for patients with prostate cancer is organized into three levels. The first level involves family physicians, urologists, and oncologists in oncology clinics, where access to modern diagnostic facilities is limited. The second level provides advanced diagnostic services through regional oncology centers and major urology departments. The third level offers specialized care at the National Cancer Research Center (NCRC) and select urology clinics. Based on the experience of other countries, it is recommended to improve the system of medical care for prostate cancer by establishing four stages of care. The proposed model takes into account the real situation, emphasizing the need for prevention, timely diagnosis, and effective treatment in accordance with clinical protocols, as well as the coordinated use of human and technological resources from oncology, urology, and morphological services at all stages.Conclusions. The proposed model for organizing medical care, based on evidence-based practices, aims to improve early detection of prostate cancer, enhance the clinical effectiveness of treatment, and optimize the use of resources.

Characterization of individuals with atherosclerotic cardiovascular disease, with and without chronic kidney disease: results from a UK electronic health record database

Abstract Introduction Elevated C-reactive protein (CRP) levels are often present in individuals with atherosclerotic cardiovascular disease (ASCVD), including in those who also have chronic kidney disease (CKD), and are associated with an increased risk of major adverse cardiovascular events (MACE). To understand unmet needs in the identification and management of at-risk individuals, we characterized patients with ASCVD in a UK database, according to CKD stage and CRP levels. Methods This study comprised separate retrospective cross-sectional and longitudinal cohort analyses of patients in the Clinical Practice Research Datalink (CPRD) Aurum database, a representative UK database of anonymized primary care records. In the cross-sectional analysis, CPRD Aurum was linked with Hospital Episode Statistics (HES) and Index of Multiple Deprivation data to assess patient characteristics on 1 Jan 2021 (defined as index date). In the cohort analysis, CPRD Aurum was linked with HES and Office for National Statistics mortality data to determine the incidence of 3-point MACE (3P-MACE) over approximately 5 years of follow-up (index date: 1 Jan 2016). Both analyses included individuals ≥ 18 years old with an ASCVD diagnosis in both primary and secondary care in the 5 years pre-index. Data were analysed using descriptive statistics. Patient characteristics were assessed by CKD stage; for individuals with CKD stage 3–4, characteristics were also assessed by CRP levels. Results In total, 225,767 and 230,055 individuals were included in the cross-sectional and cohort analyses, respectively. The prevalence of CKD stage 3–4 among individuals with ASCVD was 24.3% (Table 1). The proportion of individuals with elevated CRP (CRP ≥ 2 mg/L) and anaemia increased for successively higher CKD severity groups; in addition, glycated haemoglobin (HbA1c) ≥ 7% and elevated blood pressure were generally more frequently observed in individuals with CKD than in those without (Table 1). Individuals with ASCVD, CKD stage 3–4 and elevated CRP had higher HbA1c and total cholesterol levels and a greater proportion had obesity, anaemia and elevated blood pressure, compared with individuals with CRP < 2 mg/L (Table 2). Over 5 years’ follow-up, the incidence of 3P-MACE increased with CKD severity (Table 1) and with increasing CRP levels in individuals with ASCVD and CKD stage 3–4 (Table 2). However, only 28% of individuals with ASCVD and CKD stage 3–4 had CRP measurements. Conclusion Adults with ASCVD, CKD and elevated CRP identified from primary and secondary UK care records had a higher disease burden than individuals with CRP levels < 2 mg/L. In the UK, testing CRP levels is not routinely recommended, resulting in a high proportion of missing CRP measurements in this study. Routine testing of CRP may help in identifying patients with residual cardiovascular risk and has the potential to support risk assessment and management of patients with ASCVD and CKD.

Use of specialist health care among Norwegian-born children with one immigrant parent

Abstract Background An increasing number of children grow up with one immigrant and one native born parent. We know little about health in this group. Our aim was to compare the risk of receiving diagnoses of physical health conditions in specialist health care among Norwegian-born children with one immigrant parent compared to Norwegian background children. Methods Data from Medical Birth Registry of Norway were linked to data from the Norwegian Patient Registry (diagnoses in specialist health care), and Statistics Norway (parental country of origin, education, and household income). We estimated hazard ratios (HR) with Cox proportional hazard regressions, with Norwegian background children as reference category, adjusted for sex, birth year, parental education, and household income. Results Children with an immigrant parent had lower hazards than Norwegian background children of diagnoses of most types of infections, but higher hazards of some, including tuberculosis, and skin infections. They also had higher hazards than Norwegian background children of receiving diagnoses of obesity and other nutritional deficiencies, and skin diseases, but lower hazards for other conditions, including chronic lower respiratory disease, disease of the digestive system, and visual or hearing impairment. The hazards of diagnoses of any neurological condition, sleeping disorders and epilepsy were lower among children with an immigrant mother, but higher among those with an immigrant father. Differences between children with one immigrant parent and Norwegian background could not be explained by differences in parental education or household income. Conclusions Children of one immigrant parent do not overall use specialist health care for physical health issues more than other children. Key messages • Awareness of diagnoses given most frequently to children of one immigrant parent can help promote timely diagnoses and adequate use of services, which is important for prevention of later illness. • Barriers to health care use among children of immigrants should be further researched.

Systemic inflammation in patients with atherosclerotic cardiovascular and chronic kidney disease in Spain: a population-based study using electronic medical records from a primary care database

Abstract Background Systemic inflammation (SI) is recognized as a critical driver of atherosclerotic cardiovascular disease (ASCVD), and it is frequently observed in ASCVD patients with comorbid chronic kidney disease (CKD). Elevated C-reactive protein (CRP) levels, a common biomarker for SI, have been associated with poor prognosis in ASCVD and CKD patients, increased risk of major adverse cardiovascular events and renal disease progression, as well as greater mortality. Purpose To estimate the prevalence of SI in patients with ASCVD in Spain overall and by CKD status, and to describe patients’ clinical characteristics. Methods In this population-based observational study, data from THIN Spain, a database of electronic medical records from a large network of general practitioners, were used to identify adult patients with a diagnosis code of ASCVD (atherosclerotic coronary or cerebrovascular event, peripheral arterial disease, or other atherosclerotic vascular event) and ≥1 eligible CRP measurement between January 1st 2014 to July 31st 2023 (latest data available at time of data extraction).[Figure] SI was defined as CRP ≥ 2mg/L. Point prevalence of SI at the end of the study (among patients alive with ≥1 CRP in the prior 18 months) and the proportion of patients with evidence of SI during the study period (2014-2023) were estimated overall and by CKD status (defined as CKD stage 3+, or eGFR <60 mL/min/1.73m², or urinary albumin-to-creatinine ratio ≥30 mg/g). Patients’ comorbidities (defined using primary care diagnoses), and laboratory values were reported by SI status at first CRP measurement during the study period. Results Among 76,423 patients with ASCVD diagnosis, 15,798 patients (20.7%) were included in the study (mean age: 71.1 years; 43% females), of whom 5,111 (34%) had CKD at first eligible CRP (n=975 with unknown CKD status). Mean CRP in ASCVD patients with CKD was 24% higher than in those without CKD (4.36 vs 3.53 mg/L, p<0.001). The proportion of ASCVD patients with SI at first CRP measurement was 58% overall (65% among CKD patients; 55% among patients without CKD; p<0.001). The point prevalence of SI at the end of the study was 56% among ASCVD patients overall (62% among CKD patients; 52% among patients without CKD; p<0.001), while 64% of ASCVD patients had evidence of SI at any time during the study period (72% among CKD patients; 59% among patients without CKD; p<0.001). Compared to ASCVD patients without SI, higher proportion of SI patients were smokers and with comorbidities. Also, ASCVD patients with SI had lower baseline eGFR levels and higher levels of LDL-C and triglycerides than ASCVD patients without SI.[Table] Conclusions SI prevalence is high among patients with ASCVD in Spain, especially among patients with comorbid CKD. Strategies to target SI may have beneficial effects in prevention of cardiovascular events and mortality in ASCVD patients.

Finding the Psychological Instability Using Machine Learning

Identifying the psychological instability in mental health assessment through the application of ML techniques, using the principally the RFA (Random Forest Algorithm). This research investigates the application of machine learning techniques to detect psychological instability in individuals. By employing a variety of algorithms, including both supervised and unsupervised learning methods, this study aims to predict psychological states based on diverse data inputs such as behavioural patterns, physiological signals, and social interactions. The models are developed and validated using datasets from clinical studies, social media activity, and wearable health devices. The results illustrate the capability of ML to provide accurate and timely predictions of psychological instability, offering valuable insights for early diagnosis and intervention in mental health care. This study advances the field by demonstrating a data-driven approach to understanding and managing psychological health.

Unusual onset and course of Crohn’s disease in children

The purpose of the article is to demonstrate a clinical case of Crohn’s disease in an 8-year-old child. Materials and methods: The given clinical example is a case of a non-classical variant of the course of Crohn’s disease in an 8-year-old child who debuted with an upper respiratory tract lesion in combination with abdominal pain against the background of long courses of antibacterial therapy. Conclusion: This clinical case demonstrates the complexity of the diagnostic search, the need for careful history collection and differential diagnosis.

Interventions to improve timely cancer diagnosis: an integrative review.

Cancer will affect more than one in three U.S. residents in their lifetime, and although the diagnosis will be made efficiently in most of these cases, roughly one in five patients will experience a delayed or missed diagnosis. In this integrative review, we focus on missed opportunities in the diagnosis of breast, lung, and colorectal cancer in the ambulatory care environment. From a review of 493 publications, we summarize the current evidence regarding the contributing factors to missed or delayed cancer diagnosis in ambulatory care, as well as evidence to support possible strategies for intervention. Cancer diagnoses are made afterfollow-up of a positive screening test or an incidental finding, or most commonly, by following up and clarifying non-specific initial presentations to primary care. Breakdowns and delays are unacceptably common in each of these pathways, representing failures to follow-up on abnormal test results, incidental findings, non-specific symptoms, or consults. Interventions aimed at 'closing the loop' represent an opportunity to improve the timeliness of cancer diagnosis and reduce the harm from diagnostic errors. Improving patient engagement, using 'safety netting,' and taking advantage of the functionality offered through health information technology are all viable options to address these problems.

Vertical dysplasia

In orthodontics, vertical dysplasia is complex and the most difficult problem to treat because most methods to control vertical dimensions are patient-dependent. They have multifactorial etiology. Vertical dimension problems are the last to treat out of all the dimensions. Careful diagnosis and examination of this malocclusion will help the orthodontist to gain good treatment outcomes. Inadequate treatment mechanics leads to improper treatment outcomes. Thereby compromising the patient’s facial esthetics. This article reviews the detailed description of vertical dysplasia.

Implementation of spirometry screening for post-tuberculosis lung disease (PTLD) among adolescents and adults enrolled within the National Tuberculosis Control Program of Carmelo Hospital in Chókwè District, Mozambique: A hybrid type III effectiveness-implementation study protocol

BackgroundDespite receiving adequate treatment, many tuberculosis (TB) survivors are left with post-tuberculosis complications, possibly due to lung tissue damage incurred during the active period of the disease. Current TB programs worldwide deliver quality care throughout the course of active TB treatment, yet often fail to provide organized follow-up once treatment ends. Post-tuberculosis lung disease (PTLD) is a prominent, yet underrecognized cause of chronic lung disease, managed similarly to chronic respiratory diseases with pharmacotherapy and/or personalized pulmonary rehabilitation interventions. Basic pulmonary rehabilitation packages for people finishing TB treatment are still lacking in low- and middle-income countries (LMICs). We offer a study protocol to evaluate the implementation of spirometry and symptom screening for PTLD among people who have completed TB treatment in a rural district in Mozambique.MethodsThe overall objective of this study is to evaluate the introduction of a new screening program that utilizes symptom screening and spirometry for diagnosing PTLD among adolescents and adults that have completed TB treatment. This research protocol consists of three complementary components: 1) assessing the prevalence of PTLD among patients enrolled in the National TB Control Program (NTCP) at Carmelo Hospital (CHC) in Chókwè District, Mozambique; 2) evaluating anticipated implementation outcomes through the identification of the site-, provider-, and individual-level determinants that either facilitate or hinder the successful adoption, implementation, and maintenance of the spirometry screening program, and 3) evaluating the real-time implementation outcomes/processes in order to provide practical evidence-based key indicators of successful implementation of the spirometry screening program.DiscussionProviding well-organized, evidence-based care for individuals with a history of TB who are experiencing symptoms of PTLD can relieve chronic respiratory issues, enhance quality of life, and potentially lower the risk of further pulmonary infections, including recurrent TB. However, there is a significant gap in the literature regarding the implementation of best practices of HIV and TB health services delivery. Addressing this gap could assist Mozambique in improving diagnosis, treatment, and continuity of care for people formerly living with TB. The insights from this study will help decision-makers improve spirometry screening coverage, enhance intervention effectiveness, and translate our findings to evidence-based programming.Trial registrationISRCTN92021748 retrospectively registered.

Development and evaluation of an online training tool to aid in the diagnosis of chronic plaque psoriasis

AbstractBackgroundChronic plaque psoriasis (CPP) is underdiagnosed, undertreated and mistaken for other skin conditions such as eczema, tinea corporis and pityriasis rosea.ObjectivesTo develop and evaluate an online training tool to improve the diagnostic skills of nondermatologists for CPP.MethodsThe study involved: (i) developing an online training tool to improve CPP diagnosis by nondermatologists; and (ii) evaluating the performance of the newly developed training tool by conducting a before‐and‐after exploratory investigation. Participants included three groups of primary care health professionals: general practitioners (GPs); nurses; and pharmacists. The tool contained written recommendations for the diagnosis of CPP in different skin colours and a medical artist's illustrations of psoriasis to overcome the lack of representative images of the disease in skin of colour and to illustrate the salient features more clearly than clinical photographs.ResultsIn total, 60 participants completed the study (20 per participant group). The training tool improved participants' diagnostic skills for CPP. The diagnostic ability of GPs was, on average, higher than nurses and pharmacists before and after training. Participants found the training valuable and relevant to CPP diagnosis in primary care settings.ConclusionsOur findings show that a training tool, using medical illustrations, for nondermatologists can be beneficial in terms of recognition of CPP. This may lead to more timely diagnosis and treatment of psoriasis and support relevant and faster referral to specialist dermatology clinics.

A Case of the Uncommon Cause of Chronic Coronary Syndrome: Coronary Fistula and Coronary Stenosis, Which One to Intervene?

AbstractWe report a case of chronic coronary syndrome (CCS) that had two completely distinct mechanisms in one patient. We applied comprehensive diagnostic tools using noninvasive and invasive physiology and imaging tests before, during, and after the intervention procedure to evaluate the outcome. The patient had previously visited many physicians and was diagnosed with noncardiac chest pain. He was referred to our department due to the increased frequency and intensity of angina pectoris. After a careful diagnosis, we found a nonsignificant stenosis (50%) in the mid-left anterior descending (mid-LAD) artery and an unexpectedly high-flow coronary artery fistula from the LAD to the main pulmonary artery (MPA). We tried a combination therapy with escalation of the anti-ischemic therapy but failed. He was rehospitalized with unstable angina pectoris. After a comprehensive physiology and imaging test, our team decided to perform fistula embolization with detachable coils and defer stenting in the mid-LAD artery. After the intervention procedure, his angina subsided, and his exercise capacity was remarkably improved. Cardiac computed tomography angiography (CCTA) and cardiac magnetic resonance (CMR) evaluation in 3 months revealed all coils in situ and improved cardiac function. We postulate that comprehensive diagnostic tools are required to select appropriate management and prevent unnecessary procedures.

The effects of HIV self-testing on HIV incidence and awareness of status among men who have sex with men in the United States: Insights from a novel compartmental model

BackgroundThe OraQuick In-Home HIV self-test represents a fast, inexpensive, and convenient method for users to assess their HIV status. If integrated thoughtfully into existing testing practices, accompanied by efficient pathways to formal diagnosis, self-testing could enhance both HIV awareness and reduce HIV incidence. However, currently available self-tests are less sensitive, particularly for recent infection, when compared to gold-standard laboratory tests. It is important to understand the impact if some portion of standard testing is replaced by self-tests. We used a compartmental model to evaluate the effects of self-testing in diverse scenarios among gay, bisexual and other men who have sex with men (MSM) in the United States for the period 2020–2030, and to understand which scenarios maximize the advantages of self-testing. MethodsWe introduced a novel 4-compartment model for HIV self-testing. We employed the model under different screening rates, self-test proportions, and delays to diagnosis for those identified through self-tests to determine the potential effects of self-testing on HIV incidence and awareness of status when applied to the US MSM population. We studied scenarios in which self-tests supplement laboratory-based tests, with no replacement, and scenarios in which some replacement occurs. We also examined how future improvements in self-test sensitivity may affect our results. ResultsWhen HIV self-tests are supplemental rather than substitutes for laboratory-based testing, self-testing can decrease HIV incidence among MSM in the US by up to 10 % and increase awareness of status among MSM from 85 % to 91 % over a 10-year period, provided linkage to care and formal diagnosis occur promptly following a positive self-test (90 days or less). As self-tests replace a higher percentage laboratory-based testing algorithms, increases in overall testing rates were necessary to ensure reductions in HIV incidence. However, such needed increases were relatively small (under 10 % for prompt engagement in care and moderate levels of replacement). Improvements in self-test sensitivity and/or decreases in the detection period may further reduce any necessary increases in overall testing by up to 40 %. ConclusionsIf properly utilized, self-testing can provide significant long-term reductions to HIV incidence and improve awareness of HIV status. Ensuring that self-testing increases overall testing and that formal diagnosis and engagement in care occur promptly following a positive self-test are necessary to maximize the benefits of self-testing. Future improvements in self-test sensitivity and reductions in the detection period would further reduce HIV incidence and the potential risks associated with replacing laboratory tests with self-tests.

Patient characteristics and mortality across diagnostic settings in COPD

BackgroundMany patients with chronic obstructive pulmonary disease (COPD) are diagnosed late, e.g., at first acute exacerbation of COPD (AECOPD). AECOPD increases the risk of death. We aim to investigate patient characteristics and mortality across diagnostic settings among patients with COPD. MethodsThis nationwide Danish study allocated 107,023 patients with a first-time registered COPD-related hospital contact between 2010 and 2018 based on diagnostic setting: primary care (prior inhalation medication use), hospital outpatient clinic or hospital admission. Multivariable logistic regression was employed to investigate patient characteristics and mortality across these diagnostic settings. ResultsIn total, 81,035 (75.7 %) patients were diagnosed in primary care, median age 63 years (interquartile range (IQR) 53–71); 11,302 (10.6 %) at an outpatient clinic, median age 68 years (IQR 60–76), and 14,686 (13.7 %) during hospital admission, median age 73 years (IQR 65–81). Patient characteristics associated with diagnosis during hospital admission encompassed age (odds ratio (OR) 1.05, 95 % confidence interval (CI) 1.05–1.05, p < 0.001), male sex (OR 1.14, CI 1.10–1.19, p < 0.001), and number of comorbidities, which increased from one comorbidity (OR 2.64, CI 2.50–2.79, p < 0.001) to six or more comorbidities (OR 12.37, CI 11.26–13.60, p < 0.001). Diagnosis during hospital admission due to AECOPD was associated with increased one-year mortality (OR 1.24, CI 1.16–1.33, p < 0.001) compared to diagnosis in primary care. ConclusionPatients diagnosed with COPD in hospital settings were generally older, predominantly male, and had more comorbidities. Patients diagnosed in primary care prior to their first AECOPD admission had higher one-year survival.

Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy.

To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss. Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun. Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.