Madrid Newborn Sickle Cell Disease Cohort: clinical outcomes, stroke prevention and survival.

In May 2003, Madrid established the universal newborn screening (NBS) for sickle cell disease (SCD). However, there are no studies resembling the evolution of a SCD neonate cohort followed according to national guidelines in Spain. The aim of this study is to describe the morbimortality and the stroke prevention programme in patients diagnosed by SCD NBS in Madrid. This is a multicentre, observational, prospective cohort study between 2003 and 2018; 187 patients diagnosed with SCD were included (151 HbSS, 6 HbSß0, 27 HbSC, 3 HbSß +), and median follow-up was 5.2 years (0.03-14.9). There were 5 deaths: 2 related to SCD in patients with severe genotype (HbSS/HbSß0). Overall survival reached 95% and SCD-related survival 96.8%. The most frequent events were fever without focus, vaso-occlusive crises and acute chest syndromes. Eight strokes occurred in 5 patients which led to a 90.7% stroke-free survival in severe genotype patients (first stroke rate, 0.54 per 100 patient-years). Transcranial Doppler (TCD) was performed in 95% of eligible patients; 75% of children with pathological TCD remained stroke-free. Regarding HbSS/HbSß0 patients, 50.1% received hydroxyurea and 9.5% haematopoietic stem cell transplantation. This study reflects the evolution of Madrid SCD cohort and provides morbimortality data similar to other developed countries.

Blood donor questionnaires and infectious disease screening in Latin American countries.

BACKGROUND AND OBJECTIVES: Blood donor questionnaires are tools used to screen prospective blood donors to determine their eligibility. There are limited data regarding blood donor questionnaires and infectious disease screening of the blood supply in Latin American countries. This study aimed to survey donor centres in Latin American countries to learn more about blood donor screening and infection assessment. MATERIALS AND METHODS: An international team of transfusion medicine professionals including medical directors and supervisors who work or collaborate with Latin American donor centres, called 'Comité de Investigación en Medicina Transfusional', designed a survey (16 questions) to characterize blood donor eligibility in Latin America. RESULTS: Eighty-two institutions from 14 Latin American countries responded to the survey. Most donor centres (66%; 54 of 82) had a donor deferral percentage between 5% and 25%, and the most common causes of deferrals were low haemoglobin and high-risk behaviour. Most donors in blood centres were directed family donors compared with voluntary donors. Infection evaluation included mostly serologic assessment (81%; 30 of 37) for human immunodeficiency virus (HIV), Hepatitis B, Hepatitis C, Treponema pallidum and Trypanosoma cruzi rather than nucleic acid tests (5%; 2 of 37). CONCLUSION: Heterogeneity exists in donor selection and infectious disease screening in Latin American countries. This survey provides valuable information to understand Latin American blood centre practices.

Do abnormal screening results for chronic diseases motivate inactive people to start exercising? A community-based prospective cohort study in Changhua, Taiwan.

OBJECTIVE: Exercise improves health, but illnesses can cause changes in exercise behavior, including starting or stopping. This study investigated the effects of chronic disease screening on inactive individuals' exercise behavior and analyzed the impact of age and chronic disease history on this relationship using stratified analysis. METHODS: Using a community-based prospective observational cohort design and data from the Changhua Community-Based Integrated Screening (CHCIS) dataset from 2005 to 2020, we examined 12,038 people who were screened at least twice and self-reported having never exercised at their first screening. Changes in exercise behavior were classified as "initiating exercise" and "remaining inactive." We obtained chronic disease screening results from CHCIS records, which included measurements of waist circumference, blood glucose, blood pressure, triglycerides, and high-density lipoproteins. SAS version 9.4 was used for COX proportional hazards regression. RESULTS: The findings indicated that abnormal waist circumference and blood pressure increased the likelihood of initiating exercise compared to normal results. Age stratification showed that those aged 40-49 with abnormal results were more likely to start exercising than normal participants, but not those under 40 or over 65. When stratified by chronic disease history, abnormal screening results correlated with exercise initiation only in groups without chronic disease history, except for those with a history of hyperlipidemia. CONCLUSIONS: This is the first study to demonstrate that abnormal screening results may influence exercise initiation in individuals who have never exercised, and this association varies by screening item, age, and disease history.

Examining chronic kidney disease screening frequency among diabetics: a POMDP approach.

Forty percent of diabetics will develop chronic kidney disease (CKD) in their lifetimes. However, as many as 50% of these CKD cases may go undiagnosed. We developed screening recommendations stratified by age and previous test history for individuals with diagnosed diabetes and unknown proteinuria status by race and gender groups. To do this, we used a Partially Observed Markov Decision Process (POMDP) to identify whether a patient should be screened at every three-month interval from ages 30-85. Model inputs were drawn from nationally-representative datasets, the medical literature, and a microsimulation that integrates this information into group-specific disease progression rates. We implement the POMDP solution policy in the microsimulation to understand how this policy may impact health outcomes and generate an easily-implementable, non-belief-based approximate policy for easier clinical interpretability. We found that the status quo policy, which is to screen annually for all ages and races, is suboptimal for maximizing expected discounted future net monetary benefits (NMB). The POMDP policy suggests more frequent screening after age 40 in all race and gender groups, with screenings 2-4 times a year for ages 61-70. Black individuals are recommended for screening more frequently than their White counterparts. This policy would increase NMB from the status quo policy between $1,000 to  $8,000 per diabetic patient at a willingness-to-pay of $150,000 per quality-adjusted life year (QALY).

Chagas Disease: Epidemiology, Diagnosis, and Treatment.

PURPOSE OF REVIEW: This review seeks to describe the updates in the literature - particularly with regards to the epidemiology and diagnosis of Chagas disease. Additionally, this paper describes updates to the antiparasitic treatment for Chagas disease. RECENT FINDINGS: With regards to changing epidemiology, autochthonous cases are being found within the USA in addition to Latin America. Additionally, there appears to be more intermixing of discrete typing units-meaning, they are not confined to specific geographic regions. Screening for Chagas disease is recommended in persons who lived in areas with endemic Chagas, persons wtih family member diagnosed with Chagas Disease, persons who have lived in homes of natural material in Latin America, and persons with history of kissing bug bites. Treatment for the parasitic infection remains limited to benznidazole and nifurtimox, and the role of these treatments in Chagas cardiomyopathy has not yet been definitively defined. Finally, indications for and management of heart transplant in the setting of Chagas disease are discussed. FUTURE RESEARCH: Use of antiparasitics during chronic chagas disease should be further explored. Additionally, future research identifying other markers of infection would be valuable to defining cure from infection.

Service Quality and Residents' Preferences for Facilitated Self-Service Fundus Disease Screening: Cross-Sectional Study.

BACKGROUND: Fundus photography is the most important examination in eye disease screening. A facilitated self-service eye screening pattern based on the fully automatic fundus camera was developed in 2022 in Shanghai, China; it may help solve the problem of insufficient human resources in primary health care institutions. However, the service quality and residents' preference for this new pattern are unclear. OBJECTIVE: This study aimed to compare the service quality and residents' preferences between facilitated self-service eye screening and traditional manual screening and to explore the relationships between the screening service's quality and residents' preferences. METHODS: We conducted a cross-sectional study in Shanghai, China. Residents who underwent facilitated self-service fundus disease screening at one of the screening sites were assigned to the exposure group; those who were screened with a traditional fundus camera operated by an optometrist at an adjacent site comprised the control group. The primary outcome was the screening service quality, including effectiveness (image quality and screening efficiency), physiological discomfort, safety, convenience, and trustworthiness. The secondary outcome was the participants' preferences. Differences in service quality and the participants' preferences between the 2 groups were compared using chi-square tests separately. Subgroup analyses for exploring the relationships between the screening service's quality and residents' preference were conducted using generalized logit models. RESULTS: A total of 358 residents enrolled; among them, 176 (49.16%) were included in the exposure group and the remaining 182 (50.84%) in the control group. Residents' basic characteristics were balanced between the 2 groups. There was no significant difference in service quality between the 2 groups (image quality pass rate: P=.79; average screening time: P=.57; no physiological discomfort rate: P=.92; safety rate: P=.78; convenience rate: P=.95; trustworthiness rate: P=.20). However, the proportion of participants who were willing to use the same technology for their next screening was significantly lower in the exposure group than in the control group (P<.001). Subgroup analyses suggest that distrust in the facilitated self-service eye screening might increase the probability of refusal to undergo screening (P=.02). CONCLUSIONS: This study confirms that the facilitated self-service fundus disease screening pattern could achieve good service quality. However, it was difficult to reverse residents' preferences for manual screening in a short period, especially when the original manual service was already excellent. Therefore, the digital transformation of health care must be cautious. We suggest that attention be paid to the residents' individual needs. More efficient man-machine collaboration and personalized health management solutions based on large language models are both needed.

Definition of a Threshold for the Plasma Aß42/Aß40 Ratio Measured by Single-Molecule Array to Predict the Amyloid Status of Individuals without Dementia.

Alzheimer's disease (AD) is characterized by amyloid beta (Aß) plaques and hyperphosphorylated tau in the brain. Aß plaques precede cognitive impairments and can be detected through amyloid-positron emission tomography (PET) or in cerebrospinal fluid (CSF). Assessing the plasma Aß42/Aß40 ratio seems promising for non-invasive and cost-effective detection of brain Aß accumulation. This approach involves some challenges, including the accuracy of blood-based biomarker measurements and the establishment of clear, standardized thresholds to categorize the risk of developing brain amyloid pathology. Plasma Aß42/Aß40 ratio was measured in 277 volunteers without dementia, 70 AD patients and 18 non-AD patients using single-molecule array. Patients (n = 88) and some volunteers (n = 66) were subject to evaluation of amyloid status by CSF Aß quantification or PET analysis. Thresholds of plasma Aß42/Aß40 ratio were determined based on a Gaussian mixture model, a decision tree, and the Youden's index. The 0.0472 threshold, the one with the highest sensitivity, was retained for general population without dementia screening, and the 0.0450 threshold was retained for research and clinical trials recruitment, aiming to minimize the need for CSF or PET analyses to identify amyloid-positive individuals. These findings offer a promising step towards a cost-effective method for identifying individuals at risk of developing AD.

The Controversies of Coronary Artery Disease in End-Stage Kidney Disease Patients: A Narrative Review.

Cardiovascular disease (CVD) accounts for more than 50% of deaths among patients with end-stage kidney disease (ESKD). Approximately 40-50% of ESKD patients have clinically significant coronary artery disease (CAD) due to atherosclerosis which accounts for a significant proportion of CVD risk. However, other CVD pathologies including myocardial fibrosis, vascular calcification and arterial stiffening play important contributory roles. The pathophysiology of CAD in ESKD is distinct from the general population. ESKD patients is typically have diffuse multi-vessel involvement with increased calcification that involves both intimal and medial layers of the arterial wall. There is a complex interplay between an increased burden of traditional Framingham risk factors and exposure to non-traditional risk factors including chronic inflammation and dialysis per se. Established treatments for CAD risk factors including cholesterol lowering with statin therapy have attenuated effects and ESKD patients also have worse outcomes after revascularisation. Recent trials such as the Canakinumab Anti-Inflammatory Thrombosis Outcomes Study (CANTOS) have established that direct modulation of inflammation improves CVD outcomes in the general population, which may prove to be a potential attractive therapeutic target in ESKD patients. Multiple retrospective observational studies comparing mortality outcomes between haemodialysis (HD) and peritoneal dialysis (PD) patients have been inconclusive. Randomised trials on this issue of clinical equipoise are clearly warranted but are unlikely to be feasible. Screening for stable CAD in asymptomatic ESKD patients remains a clinical dilemma which is unique to chronic dialysis patients being assessed for kidney transplantation. This has become particularly relevant in light of the recent ISCHEMIA-CKD trial which demonstrated no difference between optimal medical therapy and revascularisation upon CVD outcomes or mortality. The optimal strategy for screening is currently being investigated in the ongoing large international multi-centre CARSK trial. Here we discuss the pathophysiology, risk modification, treatment, screening and future directions of CAD in ESKD.

Previsual and Early Detection of Myrtle Rust on Rose Apple Using Indices Derived from Thermal Imagery and Visible-to-Short-Infrared Spectroscopy.

Myrtle rust, caused by the fungus Austropuccinia psidii, is a serious disease, which affects many Myrtaceae species. Commercial nurseries that propagate Myrtaceae species are prone to myrtle rust and require a reliable method that allows previsual and early detection of the disease. This study uses time-series thermal imagery and visible-to-short-infrared spectroscopy measurements acquired over 10 days from 81 rose apple plants (Syzygium jambos) that were either inoculated with myrtle rust or maintained disease-free. Using these data, the objectives were to (i) quantify the accuracy of models using thermal indices and narrowband hyperspectral indices (NBHI) for previsual and early detection of myrtle rust using data from older resistant green leaves and young susceptible red leaves and (ii) identify the most important NBHI and thermal indices for disease detection. Using predictions made on a validation dataset, models using indices derived from thermal imagery were able to perfectly (F1 score = 1.0; accuracy = 100%) distinguish control from infected plants previsually one day before symptoms appeared (1 DBS) and for all stages after early symptoms appeared. Compared with control plants, plants with myrtle rust had lower and more variable normalized canopy temperature, which was associated with higher stomatal conductance and transpiration. Using NBHI derived from green leaves, excellent previsual classification was achieved 3 DBS, 2 DBS, and 1 DBS (F1 score range = 0.89 to 0.94). The accurate characterization of myrtle rust during previsual and early stages of disease development suggests that a robust detection methodology could be developed within a nursery setting. [Formula: see text] Copyright © 2023 The Author(s). This is an open access article distributed under the CC BY 4.0 International license.

Community based multi-disease health screening as an opportunity for early detection of HIV cases and linking them to care.

BACKGROUND: The 95-95-95 UNAIDS global strategy was adapted to end the AIDS epidemic by 2030. The target is based on the premise that early detection of HIV-infected persons and linking them to treatment regardless of their CD4 counts will lead to sustained viral suppression. HIV testing strategies to increase uptake of testing in Western and Central Africa remain inadequate. Hence, a high proportion of people living with HIV in this region do not know their status. This report describes the implementation of a community based multi-disease health screening (also known as "Know Your Status" -KYS), as part of basic science research, in a way that contributed to achieving public health goals. METHODS: A community based multi-disease health screening was conducted in 7 communities within the Eastern region of Ghana between November 2017 and April 2018, to recruit and match HIV seronegative persons to HIV seropositive persons in a case-control HIV gut microbiota study. Health assessments included blood pressure, body mass index, blood sugar, Hepatitis B virus, syphilis, and HIV testing for those who consented. HIV seronegative participants who consented were consecutively enrolled in an ongoing HIV gut microbiota case-control study. Descriptive statistics (percentages) were used to analyze data. RESULTS: Out of 738 people screened during the exercise, 700 consented to HIV testing and 23 (3%) were HIV positive. Hepatitis B virus infection was detected in 4% (33/738) and Syphilis in 2% (17/738). Co-infection of HIV and HBV was detected in 4 persons. The HIV prevalence of 3% found in these communities is higher than both the national prevalence of 1.7% and the Eastern Regional prevalence of 2.7 in 2018. CONCLUSION: Community based multi-disease health screening, such as the one undertaken in our study could be critical for identifying HIV infected persons from the community and linking them to care. In the case of HIV, it will greatly contribute to achieving the first two 95s and working towards ending AIDS by 2030.

Awareness of Infectious Disease Screening During Early Pregnancy and Knowledge About its Vertical Transmission in Japan: A Report from the Pregnant Women Health Initiative.

OBJECTIVES: We aimed to clarify the accuracy of pregnant women's knowledge and understanding regarding infectious disease screening in early pregnancy and clarify the roles that should be played by health care providers in promoting the health of pregnant women and their children. METHODS: A cross-sectional questionnaire survey was conducted in 25 hospitals across Japan from May 2018 to September 2019. We compared the agreement rates regarding screening results for hepatitis B virus (HBV), hepatitis C virus (HCV), syphilis, human T-cell leukemia virus-1 (HTLV-1), and cervical cytology in the medical records and understanding of their results by pregnant women. We then investigated whether participants had knowledge regarding the risk of mother-to child transmission in these diseases and factors associated with their knowledge. RESULTS: We enrolled 2,838 respondents in this study. The rates of agreement for HBV and cervical cancer screening related to human papillomavirus infection were "substantial," those for syphilis was "moderate," and those for HCV and HTLV-1 were "fair," according to the Kappa coefficient. The rate of knowledge regarding mother-to-child transmission of syphilis was highest (37.0%); this rate for the other items was approximately 30%. Increased knowledge was associated with higher educational level and higher annual income. CONCLUSIONS FOR PRACTICE: Pregnant women in Japan had generally good levels of understanding regarding their results in early-pregnancy infectious disease screening. However, they had insufficient knowledge regarding mother-to-child transmission of these diseases. Health care providers should raise awareness in infectious disease prevention among pregnant women and the general public, providing appropriate measures and implementing effective perinatal checkups and follow-ups for infectious diseases.

Optimizing diabetes screening frequencies for at-risk groups.

There is strong evidence that diabetes is underdiagnosed in the US: the Centers for Disease Control and Prevention (CDC) estimates that approximately 25% of diabetic patients are unaware of their condition. To encourage timely diagnosis of at-risk patients, we develop screening guidelines stratified by body mass index (BMI), age, and prior test history by using a Partially Observed Markov Decision Process (POMDP) framework to provide more personalized screening frequency recommendations. We identify structural results that prove the existence of threshold solutions in our problem and allow us to determine the relative timing and frequency of screening given different risk profiles. We then use nationally representative empirical data to identify a policy that provides the optimal action (screen or wait) every six months from age 45 to 90. We find that the current screening guidelines are suboptimal, and the recommended diabetes screening policy should be stratified by age and by finer BMI thresholds than in the status quo. We identify age ranges and BMI categories for which relatively less or more screening is needed compared to the existing guidelines to help physicians target patients most at risk. Compared to the status quo, we estimate that an optimal screening policy would generate higher net monetary benefits by $3,200-$3,570 and save $120-$1,290 in health expenditures per individual in the US above age 45.

Do Storytelling and Processing Motivation Matter? Comparing Narratives and Exemplars in Promoting Hepatitis C Screening among College Students.

Encouraging hepatitis C screening, particularly among young adults who are at increased risk of infection, is essential for eliminating viral hepatitis. A 3 (narrative vs. exemplar vs. informational message) × 2 (processing motivation: low vs. high) between-subjects experiment was conducted among college students to compare the effectiveness of different message strategies and examine the moderating role of processing motivation. Findings revealed that the narrative was perceived more favorably than the exemplar message, and both messages led to a greater screen intention than the informational message. The narrative persuaded by increasing transportation and identification and, then, enhancing message perceptions. However, these mediation paths did not explain the effects of the simple exemplar. Moreover, the effects of the narrative and the exemplar did not differ significantly depending on levels of processing motivation. The study advances a theoretical understanding of the differences between narratives and exemplars. It also offers practical suggestions for campaign message design.

Risk of primary osteoporosis score (RPOPs): an algorithm model for primary osteoporosis risk assessment in grass-roots hospital.

BACKGROUND: This study aimed to develop and validate a lasso regression algorithm model which was established by correlation factors of bone mineral density (BMD) and could be accurately predicted a high-risk population of primary osteoporosis (POP). It provides a rapid, economical and acceptable early screening method for osteoporosis in grass-roots hospitals. METHODS: We collected 120 subjects from primary osteoporosis screening population in Zhejiang Quhua Hospital between May 2021 and November 2021 who were divided into three groups (normal, osteopenia and osteoporosis) according to the BMD T-score. The levels of three micro-RNAs in the plasma of these people were detected and assessed by qRT-PCR. At the same time, the levels of ß-CTX and t-P1NP in serum of the three groups were determined. Based on the cluster random sampling method, 84 subjects (84/120, 70%) were selected as the training set and the rest were the test set. Lasso regression was used to screen characteristic variables and establish an algorithm model to evaluate the population at high risk of POP which was evaluated and tested in an independent test cohort. The feature variable screening process was used 10-fold cross validation to find the optimal lambda. RESULTS: The osteoporosis risk score was established in the training set: Risk of primary osteoporosis score (RPOPs) = -0.1497785 + 2.52Age - 0.19miR21 + 0.35miR182 + 0.17ß-CTx. The sensitivity, precision and accuracy of RPOPs in an independent test cohort were 79.17%, 82.61% and 75%, respectively. The AUC in the test set was 0.80. Some risk factors have a significant impact on the abnormal bone mass of the subjects. These risk factors were female (p = 0.00013), older than 55 (p < 2.2e-16) and BMI < 24 (p = 0.0091) who should pay more attention to their bone health. CONCLUSION: In this study, we successfully constructed and validated an early screening model of osteoporosis that is able to recognize people at high risk for developing osteoporosis and remind them to take preventive measures. But it is necessary to conduct further external and prospective validation research in large sample size for RPOPs prediction models.

Repairing boundaries along pathways to tuberculosis case detection: a qualitative synthesis of intervention designs.

BACKGROUND: Tuberculosis case-finding interventions often involve several activities to enhance patient pathways, and it is unclear which activity defines the type of case-finding intervention. When conducting studies to identify the most effective case-finding intervention it is important to have a clear understanding of these interventions for meaningful comparisons. This review aimed to construct a systems-based logic model of all pathways to tuberculosis case detection through a synthesis of intervention designs. METHODS: We identified an existing systematic review on the effectiveness of interventions to increase tuberculosis case detection and updated the search from December 2016 to October 2020. We included randomized controlled trials, as these designs encourage detailed description of interventions. Taking each study in turn, intervention descriptions were read in detail. The texts were analysed qualitatively by constantly comparing emerging codes to construct patient journeys, visualized as logical chains. Actions taken as part of interventions were positioned along patient journeys to theorize the sequence of outcomes. Patient journeys formed the basis of the model, which was refined through discussion. RESULTS: Based on intervention descriptions from 17 randomized controlled trials, our model distinguishes two care-seeking pathways and four screening pathways. An open invitation to people with tuberculosis symptoms creates care-seeking pathways. On care-seeking pathways, systematic screening can be conducted at general health services, but not at specific TB care services. People invited to tuberculosis services regardless of symptoms follow tuberculosis screening pathways and may be identified with presumptive tuberculosis even if they do not seek care for tuberculosis symptoms. Tuberculosis screening pathways include screening offered to all people accessing care at general health services, screening at a mobile clinic or health facility with open invitation to a whole population or tuberculosis contacts, screening personally offered to a whole population or tuberculosis contacts at home, work or school, and screening offered to people receiving care for human immunodeficiency virus or other clinical risk-group care. CONCLUSION: This systems-based logic model of tuberculosis case-finding pathways may support standardized terminology, consistency, transparency and improved communication among researchers, policy-makers, health workers and community members when implementing and evaluating interventions to improve tuberculosis case detection.

Smartphone as a Disease Screening Tool: A Systematic Review.

Disease screening identifies a disease in an individual/community early to effectively prevent or treat the condition. COVID-19 has restricted hospital visits for screening and other healthcare services resulting in the disruption of screening for cancer, diabetes, and cardiovascular diseases. Smartphone technologies, coupled with built-in sensors and wireless technologies, enable the smartphone to function as a disease-screening and monitoring device with negligible additional costs and potentially higher quality results. Thus, we sought to evaluate the use of smartphone applications for disease screening and the acceptability of this technology in the medical and healthcare sectors. We followed a systematic review process using four databases, including Medline Complete, Web of Science, Embase, and Proquest. We included articles published in English examining smartphone application utilisation in disease screening. Further, we presented and discussed the primary outcomes of the research articles and their statistically significant value. The initial search yielded 1046 studies for the initial title and abstract screening. Of the 105 articles eligible for full-text screening, we selected nine studies and discussed them in detail under four main categories: an overview of the literature reviewed, participant characteristics, disease screening, and technology acceptance. According to our objective, we further evaluated the disease-screening approaches and classified them as clinically administered screening (33%, n = 3), health-worker-administered screening (33%, n = 3), and home-based screening (33%, n = 3). Finally, we analysed the technology acceptance among the users and healthcare practitioners. We observed a significant statistical relationship between smartphone applications and standard clinical screening. We also reviewed user acceptance of these smartphone applications. Hence, we set out critical considerations to provide equitable healthcare solutions without barriers when designing, developing, and deploying smartphone solutions. The findings may increase research opportunities for the evaluation of smartphone solutions as valid and reliable screening solutions.

[A study to identify obstructive sleep apnea syndrome based on 24 h ambulatory blood pressure data].

Sleep apnea causes cardiac arrest, sleep rhythm disorders, nocturnal hypoxia and abnormal blood pressure fluctuations in patients, which eventually lead to nocturnal target organ damage in hypertensive patients. The incidence of obstructive sleep apnea hypopnea syndrome (OSAHS) is extremely high, which seriously affects the physical and mental health of patients. This study attempts to extract features associated with OSAHS from 24-hour ambulatory blood pressure data and identify OSAHS by machine learning models for the differential diagnosis of this disease. The study data were obtained from ambulatory blood pressure examination data of 339 patients collected in outpatient clinics of the Chinese PLA General Hospital from December 2018 to December 2019, including 115 patients with OSAHS diagnosed by polysomnography (PSG) and 224 patients with non-OSAHS. Based on the characteristics of clinical changes of blood pressure in OSAHS patients, feature extraction rules were defined and algorithms were developed to extract features, while logistic regression and lightGBM models were then used to classify and predict the disease. The results showed that the identification accuracy of the lightGBM model trained in this study was 80.0%, precision was 82.9%, recall was 72.5%, and the area under the working characteristic curve (AUC) of the subjects was 0.906. The defined ambulatory blood pressure features could be effectively used for identifying OSAHS. This study provides a new idea and method for OSAHS screening.

Clinical phenotypes of primary ciliary dyskinesia. / 原发性纤毛运动障碍的临床表型.

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.

Identification of the metabolic signatures of prostate cancer by mass spectrometry-based plasma and urine metabolomics analysis.

OBJECTIVE: Prostate cancer (PCa) is one of the most commonly diagnosed cancers among men which is associated with profound metabolic changes. Systematic analysis of the metabolic alterations and identification of new biomarkers may benefit PCa diagnosis and a deep understanding of the pathological mechanism. The purpose of this study was to determine the metabolic features of PCa. METHODS: Plasma and urine metabolites from 89 prostate cancer (PCa) patients, 84 benign prostatic hyperplasia (BPH) patients, and 70 healthy males were analyzed using LC-MS/MS and GC-MS. The Orthogonalised Partial Least Squares Discriminant Analysis (OPLS-DA) was used to find the significantly changed metabolites. The clinical value of the candidate markers was examined by receiver operating characteristic curve analysis and compared with prostate-specific antigen (PSA). RESULTS: Multivariate statistical analyses found a series of altered metabolites, which related to the urea cycle, tricarboxylic acid cycle (TCA), fatty acid metabolism, and the glycine cleavage system. Plasma Glu/Gln showed the highest predictive value (AUC = 0.984) when differentiating PCa patients from healthy controls, with a higher sensitivity than PSA (96.6% vs. 94.4%). Both Glu/Gln and PSA displayed a low specificity when differentiating PCa patients from BPH patients (<53.2%), while the combination of Glu/Gln and PSA can further increase the diagnostic specificity to 66.9%. CONCLUSIONS: The present study showed the metabolic features of PCa, provided strong evidence that the amide nitrogen and the energy metabolic pathways could be a valuable source of markers for PCa. Several candidate markers identified in this study were clinically valuable for further assessment.

Is group testing ready for prime-time in disease identification?

Large-scale disease screening is a complicated process in which high costs must be balanced against pressing public health needs. When the goal is screening for infectious disease, one approach is group testing in which samples are initially tested in pools and individual samples are retested only if the initial pooled test was positive. Intuitively, if the prevalence of infection is small, this could result in a large reduction of the total number of tests required. Despite this, the use of group testing in medical studies has been limited, largely due to skepticism about the impact of pooling on the accuracy of a given assay. While there is a large body of research addressing the issue of testing errors in group testing studies, it is customary to assume that the misclassification parameters are known from an external population and/or that the values do not change with the group size. Both of these assumptions are highly questionable for many medical practitioners considering group testing in their study design. In this article, we explore how the failure of these assumptions might impact the efficacy of a group testing design and, consequently, whether group testing is currently feasible for medical screening. Specifically, we look at how incorrect assumptions about the sensitivity function at the design stage can lead to poor estimation of a procedure's overall sensitivity and expected number of tests. Furthermore, if a validation study is used to estimate the pooled misclassification parameters of a given assay, we show that the sample sizes required are so large as to be prohibitive in all but the largest screening programs.