Undiagnosed Conditions Research Articles

Undiagnosed impaired glucose tolerance/diabetes mellitus and relationship with aortic stiffness in patients with acute coronary syndromes

Abstract Background Patients admitted with an acute coronary syndrome (ACS) often have unknown cardiovascular risk factors, such as impaired glucose tolerance (IGT) or diabetes mellitus (DM). Detecting these conditions is crucial to intensify appropriate therapies. Increased aortic stiffness, assessed by aortic pulse wave velocity (PWV), is associated with higher mortality in patients at high cardiovascular risk. Purpose Estimating the prevalence of IGT and DM and their relationship with increased aortic stiffness in patients admitted with an ACS. Methods Seventy-five consecutive patients admitted for ACS (21% women, mean age 63.6±11.1 ys), with fasting plasma glucose (PG) and glycated hemoglobin (HbA1c) not diagnostic for diabetes mellitus, underwent a fully standardized oral glucose tolerance test. All patients were also evaluated with the Arteriograph device, which applies a brachial cuff-based oscillometric method for the estimation of aortic PWV and arterial pulse waveform features. The automated vascular studies and OGTTs were performed after patient stabilization, at least 96 hours after admission. Results Forty-one patients (55% of the total study population) showed an abnormal OGTT response: 14 patients had a 2-h PG-OGTT ≥ 200 mg/dL, uncovering a diagnosis of DM, and 27 patients had a 2-h PG-OGTT ≥ 140 mg/dL, uncovering a diagnosis of IGT. Patients with DM showed no differences in terms of age, cardiovascular risk factors, Framingham risk score, C-reactive protein values, whereas a significant difference was observed in the number of diseased coronary vessels (2.2±0.8 vs 1.6±0.9, p=0.016) and PWV values (10.0±1.3 vs 8.8±1.6 m/s, p=0.028). Similarly, when considering all patients with an abnormal OGTT, a significant difference was observed in PWV values compared to patients with a normal OGTT (9.5±1.5 vs 8.4±1.7 m/s, p=0.032), as well as in estimated glomerular filtration rate (78±18 vs 83±23 mL/min/1.73mq, p=0.05), and peak troponin values (3698±2905 vs 2124±2561 ng/ml, p=0.02). At follow-up (mean time 51.7 months), no patients had died, but 5 patients had a new major cardiovascular event. Aortic pulse wave velocity values were different between patients with and without events (10.6±2.3 vs 8.6±1.4 m/s, p=0.024), and PWV was a significant predictor of events at univariate regression analysis (hazard ratio 1.93; 95 confidence intervals 1.01-3.69, p=0.047). Conclusions An unknown diagnosis of DM and/or IGT is very frequent in patients with ACS. Undiagnosed dysglycemic conditions are linked to a higher prevalence of coronary multivessel disease and increased aortic stiffness, which is also predictive of future cardiovascular events. A systematic screening with OGTT may help identifying patients at even higher cardiovascular risk, and tailoring secondary prevention strategies through personalized aggressive therapeutic interventions.

Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.

Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndrome (LQTS) is a rare inherited cardiac condition associated with significant morbidity and premature mortality. In this study, we examine LQTS as an exemplar disease to assess if clinical features recorded in the primary care EHR can be used to develop and validate a predictive model to aid earlier detection. 1495 patients with an LQTS diagnostic code and 7475 propensity-score matched controls were identified from 10.5million patients' electronic primary care records in the UK's Clinical Practice Research Datalink (CPRD). Associated clinical features recorded before diagnosis (with p < 0.05) were incorporated into a multivariable logistic regression model, the final model was determined by backwards regression and validated by bootstrapping to determine model optimism. The mean age at LQTS diagnosis was 58.4 (SD 19.41). 18 features were included in the final model. Discriminative accuracy, assessed by area under the curve (AUC), was 0.74, (95% CI 0.73, 0.75) (optimism 6%). Features occurring at significantly greater frequency before diagnosis included: epilepsy, palpitations, syncope, collapse, mitral valve disease and irritable bowel syndrome. This study demonstrates the potential to develop primary care prediction models for rare conditions, like LQTS, in routine primary care records and highlights key considerations including disease suitability, finding an appropriate linked dataset, the need for accurate case ascertainment and utilising an approach to modelling suitable for rare events.

Refractive errors, amblyopia risk factors and vision screening in children aged 7–10 years in Aotearoa New Zealand

ABSTRACT Clinical relevance Vision screening is important for detecting undiagnosed vision conditions that are common in school-aged children. However, current vision screening protocols are poor at detecting vision conditions that are most common in the Aotearoa New Zealand paediatric population. Background Uncorrected refractive error and amblyopia are the most common causes of visual impairment in children. The most appropriate vision screening method depends on the refractive error profile of the population. This study aimed to: estimate the prevalence of refractive errors and amblyopia risk factors among children living in Aotearoa New Zealand; describe previous participation in preschool vision screening and determine the diagnostic accuracy of potential screening methods. Methods Children aged 7–10 years received comprehensive eye examinations, including cycloplegic refraction, in their school. Eye examination results were assessed for refractive error and amblyopia risk factors. The sensitivity and specificity of individual vision tests for detecting any vision conditions was calculated to assess the most effective tests for vision screening. Results Eye examinations were completed for 237 children and cycloplegic refraction data was available for 220 of these children. Significant refractive error (need for glasses) was detected in 23.6% of children (7.7% myopia, 7.7% hyperopia, 15.0% astigmatism). Amblyopia risk factors were detected in 9.1% of children. Preschool vision screening had been completed by 78.5% of children. Distance visual acuity screening alone had a sensitivity of 39% for detecting vision conditions, with addition of the Spot Vision Screener improving sensitivity to 65%. Conclusion Astigmatism is the most frequent refractive error among children aged 7–10 years living in Aotearoa New Zealand. Distance visual acuity screening alone is ineffective in detecting refractive error in children in Aotearoa New Zealand. Further research investigating refractive errors across the paediatric population in Aotearoa New Zealand is required to determine the optimal timing and appropriate protocols for school-aged vision screening.

Implementation of a clinical pathway for the evaluation of asymptomatic hypertension in the emergency department

IntroductionAccording to the guidelines of the American Heart Association and American College of Emergency Physicians, respectively, there is no indication for immediate lowering of asymptomatic hypertension in the Emergency Department (ED), and no requirement for routine diagnostic testing in these patients. Despite this, asymptomatic hypertension represents a recurring source of referrals for ED evaluation from other healthcare settings, or from patient self-referral, with significant practice variation in the evaluation and treatment of this complaint. MethodsThis is a pre-post study of a pathway to standardize care of patients presenting to a tertiary academic Veteran's Health Administration ED with asymptomatic hypertension. Inclusion criteria were patients with ICD10 codes of hypertension who were confirmed via chart review to have sought care for a complaint of elevated blood pressure readings from 2018 to 2022, with the pathway having been implementing in 2022. Patients were excluded if they had symptoms of possible end organ pathology due to hypertension, such as chest pain, headache, or shortness of breath, or if they were reproductive age women who had not undergone a sterilization procedure. The primary outcome was major adverse cardiovascular event within 30 days of ED visit. Secondary outcomes included: diagnostic tests performed, administration of antihypertensives in the ED, and length of stay. Descriptive statistics and statistical analysis were performed. ResultsThere were a total of 295 unique patients and 324 patient encounters that met the inclusion/exclusion criteria, with 46 encounters that took place after pathway implementation. There were no major adverse cardiovascular events either before or after pathway implementation. Chest radiographs were reduced from 10 % to 0 % (p = 0.005) after pathway respectively. There were also declines in laboratory testing, EKGs, and administration of oral antihypertensives, but these differences were not statistically significant. At no point did any diagnostic testing identify any previously undiagnosed medical conditions. There were no instances of intravenous hypertensives being given after pathway implementation. Despite the reductions in diagnostic testing, there was no change in ED length of stay for patients with asymptomatic hypertension. ConclusionOur findings redemonstrate that patients presenting to the ED with asymptomatic hypertension are at low risk for short-term complications of hypertension, and that diagnostic testing is low yield in this population. While we were able to achieve reductions in unnecessary testing, further work is needed to educate clinicians and improve adherence to evidence based principles when caring for these patients.

Reaching adolescents with health services: Systematic development of an adolescent health check-ups and wellbeing programme in Ghana (Y-Check, Ghana).

Routine health check-ups may improve adolescent health, but global guidelines are lacking. Phase 1 of the WHO-coordinated Y-Check Research Programme involved three African cities to co-produce a programme of adolescent health check-ups. We describe a systematic approach to developing a routine adolescent health check-ups and wellbeing programme (Y-Check) to contribute evidence on whether adolescent health check-ups should be part of routine health services in Ghana. Y-Check Phase 1 was conducted in four communities in Cape Coast Ghana, over two stages using a variety of methods: (a) needs assessment and landscape analysis on the health of adolescents (existing policies/programmes, school system, adolescent health conditions) was conducted through desk-review and interviews with key informants to identify the potential content, delivery strategy and settings for adolescent health check-ups in this context; (b) co-designing the Y-Check intervention framework through person-centred participatory workshops and a consensus-building workshop with multiple stakeholders, including adolescents (10-19 years) and their parents. The study was conducted between January 2020 and October 2020. The Y-Check intervention consists of two check-ups with content that is tailored to the needs of younger adolescents and older adolescents; delivered at both school and community settings by a team of trained staff in multiple steps involving up to four stations. Y-Check includes a referral system for adolescents with any problems that cannot be investigated or treated on-the-spot. Our systematic approach to co-producing Y-Check has resulted in an intervention whose content and structure is determined by the local context, and which was adjudged by multiple stakeholders to be likely to be both useful and acceptable, and which builds on best practice. As a logical next step, the Y-Check will be subjected to pilot testing and implementation research to rigorously evaluate the feasibility, acceptability, coverage, yield of previously undiagnosed conditions and cost of these health check-ups.

Reassessing the Risk of Severe Parvovirus B19 Infection in the Immunocompetent Population: A Call for Vigilance in the Wake of Resurgence.

Despite Parvovirus B19 (B19V) generally causing mild or asymptomatic infections, and only certain high-risk groups such as hematological or immunocompromised patients and pregnant women tending to develop complications, several factors challenge the assumption of a "benign" clinical course in immunocompetent adults and adolescents. A significant proportion of the population may harbor undiagnosed health conditions or genetic predispositions that could render them more susceptible to severe B19V complications. These could include mild hematological disorders, immune dysregulation not resulting in overt immunodeficiency, or underlying cardiac conditions. Concurrent infections with other pathogens, even seemingly minor ones, could synergistically increase the severity of B19V infection, leading to more pronounced clinical manifestations. While not definitively proven, the possibility of emerging B19V strains with increased virulence or altered tissue tropism cannot be entirely discounted. Additionally, the period of pandemic-related restrictions likely led to reduced B19V circulation, potentially resulting in a cohort of young adults with limited natural immunity, making them more vulnerable to infection. Potential clinical consequences include atypical and severe presentations, even in individuals without known risk factors. The traditional focus on B19V primarily as a pediatric concern might lead to underdiagnosis or delayed diagnosis in adults, potentially hindering timely intervention and management. A surge in B19V-related complications, even if individually mild, could collectively strain healthcare resources, particularly in settings with limited capacity or pre-existing pressures. Possible recommendations are to heighten clinical awareness with a high index of suspicion for B19V infection in adults and adolescents presenting with compatible symptoms, even in the absence of classic risk factors. Additionally, expanding testing criteria and enhancing public health surveillance efforts would be prudent.

It's bittersweet, it's uncomfortable, yes, but it's necessary. Methodological reflections on the experiences of young adults with life-shortening conditions on being involved in inclusive qualitative research

Research in palliative care is regarded as ethically challenging although there is increasing recognition that such research is important. Young adults with life-shortening conditions were not expected to reach adulthood but this population is growing and there is limited research that focuses on their lives or their experiences of engaging in research. The study explored the unintended consequences of pandemic control measures on the lives of young adults living with life-shortening conditions in the United Kingdom. This paper focuses on some of the methodological issues arising from this study, drawing on data that explores participants’ experiences of taking part. This is an interpretivist and inclusive qualitative study co-produced with three experts by experience using constructivist Grounded Theory method conducted during the first wave of the Coronavirus pandemic. In-depth interviews using a topic guide were transcribed verbatim and analysed iteratively until the point of data saturation. Twenty-six young adults aged 22–40 (17 female; 9 male), reporting a wide range of life-limiting and/or life-threatening conditions including rare and undiagnosed conditions and co-morbidities. Through analysis we identify four key themes focusing on participants’ experiences of taking part in the research: helping others and influencing change; reciprocity and support; therapeutic value; and (in)visibility and legacy. This paper offers methodological reflections on research in palliative care drawing on qualitative co-produced research involving young adults with life-shortening conditions. Our findings indicate that although participating in research can feel uncomfortable, this is outweighed by the perceived benefits of contributing to research.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

BackgroundSignificant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adult Undiagnosed Disease Program (AHA-UDP) was designed to complement existing UDP programs that focus on paediatric rare diseases and address an area of unmet diagnostic need for adults with undiagnosed rare conditions in Victoria, Australia. It was conducted at a large Victorian hospital to demonstrate the benefits of bringing genomic techniques currently used predominantly in a research setting into hospital clinical practice, and identify the benefits of enrolling adults with undiagnosed rare diseases into a UDP program. The main objectives were to identify the causal mutation for a variety of diseases of individuals and families enrolled, and to discover novel disease genes.MethodsUnsolved patients in whom standard genomic diagnostic techniques such as targeted gene panel, exome-wide next generation sequencing, and/or chromosomal microarray, had already been performed were recruited. Genome sequencing and enhanced genomic analysis from the research setting were applied to aid novel gene discovery.ResultsIn total, 16/50 (32%) families/cases were solved. One or more candidate variants of uncertain significance were detected in 18/50 (36%) families. No candidate variants were identified in 16/50 (32%) families. Two novel disease genes (TOP3B, PRKACB) and two novel genotype–phenotype correlations (NARS, and KMT2C genes) were identified. Three out of eight patients with suspected mosaic tuberous sclerosis complex had their diagnosis confirmed which provided reproductive options for two patients. The utility of confirming diagnoses for patients with mosaic conditions (using high read depth sequencing and ddPCR) was not specifically envisaged at the onset of the project, but the flexibility to offer recruitment and analyses on an as-needed basis proved to be a strength of the AHA-UDP.ConclusionAHA-UDP demonstrates the utility of a UDP approach applying genome sequencing approaches in diagnosing adults with rare diseases who have had uninformative conventional genetic analysis, informing clinical management, recurrence risk, and recommendations for relatives.

Health outcomes and healthcare utilization associated with four undiagnosed chronic conditions: evidence from nationally representative survey data in Sri Lanka

BackgroundLow awareness of chronic conditions raises the risk of poorer health outcomes and may result in healthcare utilization and spending in response to symptoms of undiagnosed conditions. Little evidence exists, particularly from lower-middle-income countries, on the health and healthcare use of undiagnosed people with an indication of a condition. This study aimed to compare health (physical, mental, and health-related quality of life (HRQoL)) and healthcare (inpatient and outpatient visits and out-of-pocket (OOP) medical spending) outcomes of undiagnosed Sri Lankans with an indication of coronary heart disease (CHD), hypertension, diabetes, and depression with the outcomes of their compatriots who were diagnosed or had no indication of these conditions.MethodsThis study used a nationally representative survey of Sri Lankan adults to identify people with an indication of CHD, hypertension, diabetes, or depression, and ascertain if they were diagnosed. Outcomes were self-reported measures of physical and mental functioning (12-Item Short Form Survey (SF-12)), HRQoL (EQ-5D-5L), inpatient and outpatient visits, and OOP spending. For each condition, we estimated the mean of each outcome for respondents with (a) no indication, (b) an indication without diagnosis, and (c) a diagnosis. We adjusted the group differences in these means for socio-demographic covariates using ordinary least squares (OLS) regression for physical and mental function, Tobit regression for HRQoL, and a generalized linear model (GLM) for healthcare visits and OOP spending.ResultsAn indication of each of CHD and depression, which are typically symptomatic, was associated with a lower adjusted mean of physical (CHD -2.65, 95% CI -3.66, -1.63; depression -5.78, 95% CI -6.91, -4.64) and mental functioning (CHD -2.25, 95% CI -3.38, -1.12; depression -6.70, 95% CI -7.97, -5.43) and, for CHD, more annual outpatient visits (2.13, 95% CI 0.81, 3.44) compared with no indication of the respective condition. There were no such differences for indications of hypertension and diabetes, which are often asymptomatic.ConclusionsLiving with undiagnosed CHD and depression was associated with worse health and, for CHD, greater utilization of healthcare. Diagnosis and management of these symptomatic conditions can potentially improve health partly through substitution of effective healthcare for that which primarily responds to symptoms.

Factors influencing smartwatch use and comfort with health data sharing: a sequential mixed-method study protocol

IntroductionSmartwatches have become ubiquitous for tracking health metrics. These data sets hold substantial potential for enhancing healthcare and public health initiatives; it may be used to track chronic health conditions,...

Prevalnce of Anemia and Associated Factors in Jashore District of Bangladesh – A Cross-Sectional Study

Background: Anemia is a global public health problem affecting both developing and developed countries with major consequences on human health as well as social and economic development. It occurs at all stages of the life cycle but is more prevalent in pregnant women and young children. Anemia during pregnancy is a major cause of morbidity and mortality of pregnant women in developing countries and has both maternal and fetal consequences. Therefore, this study aimed to assess the prevalence and factors associated with anemia in Bangladeshi human subjects, especially women. Methodology: This cross-sectional survey was held on human subjects (N=528), of which 4% were children (n=27), 27% male (n=141), 33% non-pregnant female (n=173) and 36% pregnant female (n=187). The signs and symptoms of participants were also considered. The study participants for this study were people who were categorized as: children 6-59 months, children 5-11 years, children 12-14 years, men (15 years of age and above), non-pregnant women (15 years of age and above) and female (pregnant). The survey was held on 528 patients of children (27), male (141), non-pregnant female (173) and pregnant female (187). The questionnaire had been developed including the basic information about anemia associated with dietary habits and relevant factors in details. The questionnaire contained seven section: background information, personal information, history of patients, dietary information, signs and symptoms, diagnostic information and pregnancy status for females. Blood samples of the subjects had been tested for percentage value of hemoglobin. Results: The anemic children were affected by thalassemia genetically. Among the people, more than 50% were below 6 months of age. More than 80% of anemic patients had been found suffering from different diseases. Of them, 10% patients suffered from accidental blood loss. Among the female anemic patients, 63% had been habituated with excessive menstrual bleeding. Pregnant women had been found suffering from mild to moderate anemia (characterized by hemoglobin concentration) but non-pregnant had been noticed with moderate anemia. This might be due to the undiagnosed mild anemic condition in non-pregnant female. Almost 65% of pregnant women had children and among them, 58% had previous pregnancy within last 2 years. In our observation, 25% of the anemic pregnant women had previous abortion history and 34% affected by bleeding during pregnancy. The education level was below secondary in 55% of anemic adult patient. Conclusion: Mild to moderate anemia prevails among the study subjects. Their lifestyle modification especially intake of iron rich food and suppliments seem apt in overcoming this crisis.

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease

BackgroundThe ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of rare diseases in clinical settings is challenging, with patients typically experiencing a multitude of unnecessary tests and procedures. To improve diagnosis of rare disease, clinicians require evidence-based guidance on when their patient may be presenting with a rare disease. This study aims to identify common experiences amongst patients with rare diseases, to inform a series of ‘red flags’ that can aid diagnosis of rare diseases in non-specialist settings.A questionnaire was developed by Medics for Rare Diseases, informed by the experiences of clinicians, rare disease patients and patient advocates, and was shared with UK-based rare disease patient groups. Study participants were engaged via social media platforms, blogs and email newsletters of three umbrella rare disease organisations. The questionnaire, comprising 22 questions, was designed to identify typical experiences relating to physical and psychosocial manifestations and presentation of disease, patient interactions with healthcare providers, and family history.ResultsQuestionnaire responses were received from 79 different rare disease patient groups and the common experiences identified were used to inform seven red flags of rare disease: multi-system involvement (3 or more); genetic inheritance pattern; continued presentation throughout childhood and adulthood; difficulties at school, especially relating to absences, difficulty participating in physical education and experiences of bullying or social isolation; multiple specialist referrals; extended period with unexplained symptoms; and misdiagnosis. In light of the red flags identified, recommendations for primary care and education settings have been proposed, focusing on the need for holistic assessment and awareness of both physical and psychosocial factors.ConclusionsThis study identified key commonalities experienced by patients with rare disease across physical and psychosocial domains, in addition to understanding patients’ history and experiences with healthcare providers. These findings could be used to develop a clinical decision‑making tool to support non-specialist practitioners to consider when their patient may have an undiagnosed rare condition, which may minimise the challenges of the ‘diagnostic odyssey’ and improve the patient experience.

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Background: Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield of whole-genome sequencing (WGS) in a pediatric cohort with diverse phenotypes, particularly focusing on the role of clinical expertise in interpreting WGS results. Methods: A retrospective cohort study was conducted at Acibadem University's Maslak Hospital in Istanbul, Turkey, involving pediatric patients (0-18years) who underwent diagnostic WGS testing. Clinical assessments, family histories, and previous laboratory and imaging studies were analyzed. Variants were classified and interpreted in conjunction with clinical findings. Results: The cohort comprised 172 pediatric patients, aged 0-5years (62.8%). International patients (28.5%) were from 20 different countries. WGS was used as a first-tier approach in 61.6% of patients. The diagnostic yield of WGS reached 61.0%, enhanced by reclassification of variants of uncertain significance (VUS) through reverse phenotyping by an experienced clinical geneticist. Consanguinity was 18.6% of the overall cohort. Dual diagnoses were carried out for 8.5% of solved patients. Discussion: Our study particularly advocates for the selection of WGS as a first-tier testing approach in infants and children with rare diseases, who were under 5years of age, thereby potentially shortening the duration of the diagnostic odyssey. The results also emphasize the critical role of a single clinical geneticist's expertise in deep phenotyping and reverse phenotyping, which contributed significantly to the high diagnostic yield.

Machine Learning Methods Using Artificial Intelligence Deployed on Electronic Health Record Data for Identification and Referral of At-Risk Patients From Primary Care Physicians to Eye Care Specialists: Retrospective, Case-Controlled Study.

Identification and referral of at-risk patients from primary care practitioners (PCPs) to eye care professionals remain a challenge. Approximately 1.9 million Americans suffer from vision loss as a result of undiagnosed or untreated ophthalmic conditions. In ophthalmology, artificial intelligence (AI) is used to predict glaucoma progression, recognize diabetic retinopathy (DR), and classify ocular tumors; however, AI has not yet been used to triage primary care patients for ophthalmology referral. This study aimed to build and compare machine learning (ML) methods, applicable to electronic health records (EHRs) of PCPs, capable of triaging patients for referral to eye care specialists. Accessing the Optum deidentified EHR data set, 743,039 patients with 5 leading vision conditions (age-related macular degeneration [AMD], visually significant cataract, DR, glaucoma, or ocular surface disease [OSD]) were exact-matched on age and gender to 743,039 controls without eye conditions. Between 142 and 182 non-ophthalmic parameters per patient were input into 5 ML methods: generalized linear model, L1-regularized logistic regression, random forest, Extreme Gradient Boosting (XGBoost), and J48 decision tree. Model performance was compared for each pathology to select the most predictive algorithm. The area under the curve (AUC) was assessed for all algorithms for each outcome. XGBoost demonstrated the best performance, showing, respectively, a prediction accuracy and an AUC of 78.6% (95% CI 78.3%-78.9%) and 0.878 for visually significant cataract, 77.4% (95% CI 76.7%-78.1%) and 0.858 for exudative AMD, 79.2% (95% CI 78.8%-79.6%) and 0.879 for nonexudative AMD, 72.2% (95% CI 69.9%-74.5%) and 0.803 for OSD requiring medication, 70.8% (95% CI 70.5%-71.1%) and 0.785 for glaucoma, 85.0% (95% CI 84.2%-85.8%) and 0.924 for type 1 nonproliferative diabetic retinopathy (NPDR), 82.2% (95% CI 80.4%-84.0%) and 0.911 for type 1 proliferative diabetic retinopathy (PDR), 81.3% (95% CI 81.0%-81.6%) and 0.891 for type 2 NPDR, and 82.1% (95% CI 81.3%-82.9%) and 0.900 for type 2 PDR. The 5 ML methods deployed were able to successfully identify patients with elevated odds ratios (ORs), thus capable of patient triage, for ocular pathology ranging from 2.4 (95% CI 2.4-2.5) for glaucoma to 5.7 (95% CI 5.0-6.4) for type 1 NPDR, with an average OR of 3.9. The application of these models could enable PCPs to better identify and triage patients at risk for treatable ophthalmic pathology. Early identification of patients with unrecognized sight-threatening conditions may lead to earlier treatment and a reduced economic burden. More importantly, such triage may improve patients' lives.

The cost of untreated vestibular conditions: the role of otolaryngology &amp; rehabilitation

It is estimated that dizziness, vertigo, and falls are the third most common complaints heard by physicians from all age groups only proceeded by headache and lower back pain.1 Equilibrium disorders can affect individuals throughout the lifespan resulting from congenital, familial to acquired conditions. The symptoms from most acquired conditions, however, are the number one complaint of patients aged 65 years and older.2 This is further demonstrated by the number one fear of older adults is loss of independence and ability to age in place. This is strongly associated with fear of falling. Given the exponential growth of this older cohort group worldwide, this is a significant and growing segment of the population. This older population is also confronted with numerous medical co-morbidities complicating their management with the increased prevalence of falls. This contributes to considerable morbidities and mortality, with balance-related falls being the number one cause of accidental death for this population.3 This paper will review the high cost of undiagnosed and untreated vestibular-balance conditions, versus the cost savings of early detection, assessment and intervention and the role of otolaryngology and audio-vestibular medical specialists.

Weaning and depression: a closer look.

The association of weaning with depression has long been recognized. However, interest in the study of post-weaning depression has waned over the last few decades partly due to changes in the nosology of perinatal psychiatric disorders. In this paper, we review the relevant literature and conclude that post-weaning depression is a rare but severe complication of breastfeeding cessation. Given that post-weaning depression is an understudied and often undiagnosed clinical condition, research is needed to address this important unmet need.

Systemic inflammation among adults with diagnosed and undiagnosed cardiometabolic conditions: a potential missed opportunity for cardiovascular disease prevention.

Systemic inflammation is associated with cardiovascular morbidity and mortality. Since inflammation is not screened in the population, the prevalence, particularly among individuals with undiagnosed cardiometabolic disease, is unclear. To assess the prevalence of elevated inflammation using high sensitivity C-reactive protein (hs-CRP) (>0.30 mg/dL) in adults with no cardiometabolic disease, undiagnosed disease and diagnosed disease. We conducted a cross-sectional analysis of the 2015-2020 National Health and Nutrition Examination Survey which allows for population estimates of the US population. Adults > = 20 years old were included. HsCRP levels >0.30 mg/dL represented inflammation. Individuals were classified into disease defined as having one or more of the following: diagnosed disease--diabetes, hypertension, hyperlipidemia, or obesity by diagnosis; undiagnosed disease (self-report of no doctor diagnosis but positive biomarker); no disease. 12,946 unweighted individuals representing 315,354,183 adults in the US population were assessed. The proportion of adults with systemic inflammation is 34.63%. The proportion of individuals aged 20 years and older with no disease, undiagnosed disease and diagnosed disease and inflammation was 15.1, 29.1 and 41.8%, respectively. When stratifying by race/ethnicity among individuals with elevated inflammation Non-Hispanic Black people have the highest prevalence (50.35%) in individuals with diagnosed disease followed by Hispanics (46.13%) and Non-Hispanic White people (40.15%) (p < 0.01). In logistic regressions adjusted for sociodemographic variables, individuals with undiagnosed cardiometabolic disease have an increased risk of elevated inflammation as measured by CRP (OR 2.38; 95%CI = 1.90-2.99). In conclusion, a substantial proportion of the adult population, particularly minority and low socioeconomic populations, have elevated inflammation. Systemic inflammation may be a potential focus for disease prevention and disease progression in primary care.

Effects of spirituality and religious attendance on the mental health and psychosocial wellbeing of inmates: a case study of Harare central prison, in Zimbabwe

The purpose of the study was to assess the prevalence of mental health problems at Harare Central Prison, Zimbabwe, in addition to assessing the prisoners’ levels of religiosity and spirituality, and furthermore ascertain how these affect their mental health and psychosocial wellbeing. This paper used a qualitative research design, whilst the target population constituted the inmates at Harare Central Prison with diagnosed or undiagnosed mental health conditions. Purposeful sampling was used, whilst the research instrument employed was structured interviews. Data were presented in narrative form and analyzed using thematic analysis. The major findings of this study were that religion and spirituality had beneficial effects on the mental health and psychosocial wellbeing of inmates, including working as a protective factor. It was concluded that all the various stakeholders concerned should work on promoting the functional and beneficial aspects of religion and spirituality at the prison.

The significance of cerebrospinal fluid analysis in the differential diagnosis of 564 psychiatric patients: Multiple sclerosis is more common than autoimmune-encephalitis

The analysis of cerebrospinal fluid (CSF) is an essential tool for the differential diagnosis of psychiatric disorders caused by autoimmune inflammation or infections. Clear guidelines for CSF analysis are limited and mainly available for schizophrenia and dementia. Thus, insights into CSF changes in psychiatric patients largely derive from research.We analyzed the clinical and CSF data of 564 psychiatric patients without pre-existing neurological diagnoses from March 1998 to April 2020. Primary aim was to detect previously undiagnosed neurological conditions as underlying cause for the psychiatric disorder.Following CSF analysis, 8 % of patients (47/564) were diagnosed with a neurological disorder. This was the case in 12.0 % (23/193) of patients with affective disorders, 7.2 % (19/262) of patients with schizophrenia, and 4.0 % (23/193) of patients with anxiety disorders. The predominant new diagnoses were multiple sclerosis (19/47) and autoimmune encephalitis (10/47). Abnormal CSF findings without any implications for further treatment were detected in 17.0 % (94/564) of patients.Our data indicates that CSF analysis in patients suffering from psychiatric disorders may uncover underlying organic causes, most commonly multiple sclerosis and autoimmune encephalitis. Our findings imply that the incorporation of CSF analysis in routine psychiatric assessments is potentially beneficial.

Paediatric CXL myths and reality

Paediatric keratoconus is often an undiagnosed condition that results in many cases being untreated. As this patient population has a vulnerable developing visual system, a delay in treatment can lead to lifelong visual consequences. Published studies demonstrate that keratoconus progresses at a faster rate in children compared to adults and that CXL can arrest disease progression also in paediatric patients. Current barrier to the CXL treatment may be partly due to the lack of compliance during a procedure performed using local anaesthesia. In addition, children may not comply with instructions to avoid eye rubbing that increases the risk of regression over time and the chance for postoperative infection.