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Introduction: Cardiometabolic diseases are rapidly becoming primary causes of death in developing countries, including Ghana. However, risk factors for these diseases, including obesity phenotype, and availability of cost-effective diagnostic criteria are poorly documented in an African-ancestry populations in their native locations. The extent to which the environment, occupation, geography, stress, and sleep habits contribute to the development of Cardiometabolic disorders should be examined. Purpose: The overall goal of this study is to determine the prevalence of undiagnosed diabetes, prediabetes, and associated cardiovascular risks using a multi-sampled oral glucose tolerance test. The study will also investigate the phenotype and ocular characteristics of diabetes and prediabetes subgroups, as well as determine if lifestyle changes over a one-year period will impact the progression of diabetes and prediabetes. Methods and analysis: The study employs a community-based quasi-experimental design, making use of pre- and post-intervention data, as well as a questionnaire survey of 1200 individuals residing in the Cape Coast metropolis to ascertain the prevalence and risk factors for undiagnosed diabetes and prediabetes. Physical activity, dietary habits, stress levels, sleep patterns, body image perception, and demographic characteristics will be assessed. Glucose dysregulation will be detected using oral glucose tolerance test, fasting plasma glucose, and glycated hemoglobin. Liver and kidney function will also be assessed. Diabetes and prediabetes will be classified using the American Diabetes Association criteria. Descriptive statistics, including percentages, will be used to determine the prevalence of undiagnosed diabetes and cardiovascular risks. Inferential statistics, including ANOVA, t-tests, chi-square tests, ROC curves, logistic regression, and linear mixed model regression will be used to analyze the phenotypic variations in the population, ocular characteristics, glycemic levels, sensitivity levels of diagnostic tests, etiological cause of diabetes in the population, and effects of lifestyle modifications, respectively. Additionally, t-tests will be used to assess changes in glucose regulation biomarkers after lifestyle modifications. Ethics and dissemination: Ethics approval was granted by the Institutional Review Board of the University of Cape Coast, Ghana (UCCIRB/EXT/2022/27). The findings will be disseminated in community workshops, online learning platforms, academic conferences and submitted to peer-reviewed journals for publication.

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OBJECTIVES: To estimate the prevalence and identify the factors associated with undiagnosed hypertension in India. STUDY DESIGN: A secondary data analysis using the National Family Health Survey (NFHS-5) covering the period 2019-2021. METHODS: Information on hypertension among individuals aged 15-49 years was extracted from the survey dataset. We estimated the prevalence of undiagnosed hypertension using physical measurements along with self-reported data from the survey. A log-binomial model with survey-adjusted Poisson regression was used to estimate the prevalence ratio between undiagnosed and diagnosed hypertension. Multinomial logistic regression analysis examined the factors associated with diagnosed hypertension (vs healthy) and undiagnosed hypertension (vs healthy). All the analyses were survey-weight adjusted and stratified by gender. RESULTS: The survey-adjusted prevalence of undiagnosed hypertension was 8.75% (8.62%-8.87%) and was higher among males [13.56% (13.03%-14.12%)] than in females [8.14% (8.03%-8.25%)]. The proportion of individuals with undiagnosed hypertension among total hypertension was 44.99% (44.44%-45.55%) and was higher in males [65.94% (64.25%-67.60%)] than in females [42.18% (41.66%-42.71%)]. CONCLUSIONS: Our findings revealed that age, higher body mass index, no access to health care, and having no comorbidities were risk factors for undiagnosed hypertension. One in twelve people had undiagnosed hypertension, and of those with hypertension, one in two were undiagnosed, with males being disproportionately affected. Targeted public health interventions are crucial to improve hypertension screening, particularly among middle-aged and obese individuals without comorbidities.

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BACKGROUND: Hypertension remains a major global health challenge, including in low- and middle-income countries. In Rwanda, a lack of adequate information and healthcare services impacts healthcare-seeking behaviors, contributing to undiagnosed hypertension in rural areas. Therefore, the need to determine its prevalence and associated factors. METHODS: A cross-sectional study was conducted with 393 adults in the Ndera Sector, of Rwanda's Gasabo District, through a multistage sampling technique. Data was gathered using the WHO STEP-wise approach to non-communicable disease risk factor surveillance (STEPS) questionnaire; physical examination was done to determine blood pressure and body-mass index (BMI), after which the data collected was analyzed using SPSS. Newly diagnosed hypertension was determined when on two different intervals, systolic blood pressure readings was > 140 mmHg, and/or the diastolic blood pressure readings was > 90 mmHg, in the absence of previous hypertension diagnosis. RESULTS: The overall prevalence of hypertension among patients at Ndera sector was 15%, all of which were newly diagnosed. The mean (SD) age of the participants was 37 (13.7) years and half (53%) were women. The mean systolic blood pressure for men was 124.3 mmHg compared to 120.9 mmHg for women (p = 0.043, 95%CI: 0.12-6.74). Women had a significantly higher mean BMI (26.0) compared to men (22.8) (p < 0.001, 95%CI: -4.18 - -2.31). Age (χ² = 37.400, p < 0.001), residence (χ² = 10.200, p < 0.001), BMI (χ² = 22.1, p < 0.001), and lack of knowledge about hypertension (χ² = 25.1, p < 0.001) were the factors with significantly undiagnosed hypertension. CONCLUSIONS: The high prevalence of undiagnosed hypertension in Ndera Sector is linked to gender, older age, higher BMI, location, and lack of hypertension knowledge. These findings call for multifaceted approaches, combining educational initiatives, geographical targeting, lifestyle modifications, and policy implementations, all aimed at mitigating the burden of undiagnosed hypertension and enhancing community health within the Ndera Sector.

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Femoral neck fractures are a common complication of falls, particularly in the osteoporotic elderly female population. This case highlights the significance of properly radiologically evaluating elderly patients with falls. A 68-year-old White female with paroxysmal atrial fibrillation on anticoagulation, nicotine use disorder, chronic hyponatremia, hypertension, and hyperlipidemia presented to the emergency department (ED) in considerable pain four days after a previously diagnosed left pubic symphysis fracture. Repeat imaging (X-ray and computed tomography (CT)) was significant for a left femoral neck fracture concurrent with the aforementioned pelvic fracture. Within 48 hours of admission, the patient underwent a hemiarthroplasty of the left hip. The postoperative course was unremarkable, except for immensely decreased pain and a remarkable ability to ambulate, and on postoperative day three, the patient was discharged. In patients with an overall high risk of hip fracture, CT imaging should be considered after X-ray in an effort to eliminate the frequency of undiagnosed fractures. It is essential to thoroughly evaluate the entire film, even after one fracture is found. This is crucial to a patient's overall well-being and can contribute to many unwanted phenomena.

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BACKGROUND AND OBJECTIVES: Prevalence of prediabetes and undiagnosed diabetes are different in rural and urban dwellings, with varying driving factors. This study aimed to determine the differences in risk factors of prediabetes and undiagnosed diabetes among Yoruba speaking adult dwellers in selected rural and urban communities in Nigeria using haemoglobin A1c. METHODS: A cross-sectional study was conducted in five selected states in Southwestern Nigeria. Using a multistage sampling technique, 2,537 participants with no prior diagnosis of prediabetes or diabetes mellitus (DM) were enrolled and their glycated haemoglobin (HbA1c) determined. Descriptive statistics, univariate and multiple logistic regression analysis was used to determine the prevalence and risk factors of prediabetes and diabetes at 5% level of significance. RESULTS: Increased age, sex, family history of diabetes, being married, participants' history of hypertension, cardiovascular disease and Gestational Diabetes Mellitus (GDM) or delivery of big babies, BMI, systolic and diastolic blood pressure were significantly associated with prediabetes and diabetes in both urban and rural areas. However, adjusted odds ratio showed that family history of diabetes (2.14, 95% CI: 1.26-3.61 versus 1.36, 95% CI: 1.00-1.85) and past GDM among women (2.67, 95% CI: 0.62, 11.39 versus 1.32, 95% CI: 0.61, 2.89) clearly predict dysglycaemia in the rural compared to urban participants, respectively. CONCLUSIONS: Family history of diabetes and past GDM disproportionately predict dysglycaemia in rural compared to urban participants. Periodic screening for dysglycaemia and public health education, especially in child-bearing women, are necessary measures to reduce the burden of dysglycaemia in Nigeria.

CONTEXTE ET OBJECTIFS: La prévalence du prédiabète et du diabète non diagnostiqué diffère entre les zones rurales et urbaines, avec des facteurs déterminants variés. Cette étude visait à déterminer les différences dans les facteurs de risque du prédiabète et du diabète non diagnostiqué chez les adultes yoruba-parlants vivant dans des communautés rurales et urbaines sélectionnées au Nigeria, en utilisant l'hémoglobine A1c. MÉTHODES: Une étude transversale a été menée dans cinq États sélectionnés du sud-ouest du Nigeria. Utilisant une échantillonnage en plusieurs étapes, 2 537 participants sans diagnostic antérieur de prédiabète ou de diabète sucré (DS) ont été recrutés et leur hémoglobine glyquée (HbA1c) déterminée. Des statistiques descriptives, ainsi que des analyses de régression logistique univariée et multivariée, ont été utilisées pour déterminer la prévalence et les facteurs de risque du prédiabète et du diabète à un seuil de signification de 5 %. RÉSULTATS: L'augmentation de l'âge, le sexe, les antécédents familiaux de diabète, le mariage, les antécédents d'hypertension, de maladie cardiovasculaire et de diabète gestationnel (DG) ou l'accouchement de gros bébés, l'IMC, la pression artérielle systolique et diastolique étaient significativement associés au prédiabète et au diabète dans les zones urbaines et rurales. Cependant, les odds ratio ajustés ont montré que les antécédents familiaux de diabète (2,14, IC à 95 % : 1,26-3,61 contre 1,36, IC à 95 % : 1,00-1,85) et les antécédents de DG chez les femmes (2,67, IC à 95 %: 0,62, 11,39 contre 1,32, IC à 95 % : 0,61, 2,89) prédisent clairement la dysglycémie en milieu rural par rapport aux participants urbains, respectivement. CONCLUSIONS: Les antécédents familiaux de diabète et les antécédents de DG prédisent de manière disproportionnée la dysglycémie en milieu rural par rapport au milieu urbain. Un dépistage périodique de la dysglycémie et une éducation sanitaire, en particulier chez les femmes en âge de procréer, sont des mesures nécessaires pour réduire le fardeau de la dysglycémie au Nigeria. MOTS-CLÉS: Prédiabète, diabète non diagnostiqué, Facteurs de risque, Rural-urbain, Différences, Basé sur l'hémoglobine glyquée, Nigeria.

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AIMS: To estimate prevalence of diagnosed (dDM) and undiagnosed diabetes (uDM) in Hungary and investigate determinants of uDM. METHODS: Data was obtained from the nationally representative H-UNCOVER study. As laboratory measurements were available for 11/19 Hungarian counties, n = 5,974/17,787 people were eligible. After exclusions, 5,673 (representing 4,976,097 people) were included. dDM was defined by self-reporting, while uDM as negative self-reporting and elevated fasting glucose (≥7 mmol/l) and/or HbA1c (≥48 mmol/mol). Logistic regression for complex samples was used to calculate comparisons between dDM and uDM adjusted for age and BMI. RESULTS: Diabetes prevalence was 12.0 %/11.9 % (women/men, 95 %CI:10.7-13.4 %/10.7-13.2 %), while 2.2 %/2.8 % (1.7-2.8 %/2.2-3.6 %) of women/men were uDM. While the proportion of uDM vs. dDM was similar for women ≥ 40, men in their forties had the highest odds for uDM. Neither unemployment (women/men OR:0.58 [0.14-2.45]/0.50 [0.13-1.92]), nor education level (tertiary vs. primary; women/men OR: 1.16 [0.53-2.56]/ 0.53 [0.24-1.18]) were associated with uDM. The risk of uDM was lower in both sexes with chronic morbidities. CONCLUSIONS: We report higher prevalence of diabetes and undiagnosed diabetes than previous Hungarian estimates. The finding that socioeconomic factors are not associated to uDM suggests that universal health care could provide equitable access to diabetes diagnosis.

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Background: Undiagnosed diabetes mellitus poses a significant global public health concern, exerting a substantial impact on the well-being of individuals, their families, and societies at large. Those individuals with undiagnosed diabetes miss opportunities to maintain quality of life and prevent diabetes-related complications. Even if there are ample primary studies on undiagnosed diabetes in Ethiopia, the results reveal conflicting results. Therefore, a comprehensive national picture of undiagnosed diabetes is essential for designing effective strategies at the national level. Methods: This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for prevalence studies (PROSPERO ID: CRD42021266676). PubMed, Web of Science and the World Health Organization's Hinari portal were searched using a strategy developed in collaboration with Liberians. The inclusion criteria comprised studies reporting undiagnosed diabetes in Ethiopia. Two independent reviewers conducted a quality assessment using a 10-item appraisal tool. Meta-analysis and meta-regression were performed using a random-effects model. Result: Twenty-five studies with 22,193 participants met the inclusion criteria. The pooled prevalence of undiagnosed diabetes among the Ethiopian adult population was 5.68% (95% CI: 4.53 - 6.83, I2 = 75.4). Factors significantly associated with undiagnosed diabetes include age, waist circumference, overweight, family history of diabetes, and a history of hypertension. Conclusion: Our systematic review found a noteworthy prevalence of undiagnosed diabetes in Ethiopia. The majority of factors linked with undiagnosed diabetes in this review were modifiable. This underscores the importance of targeted factors and public health interventions to improve early detection and reduce the burden of undiagnosed diabetes and its complications in Ethiopia. Systematic review registration: https://www.crd.york.ac.uk/prospero, identifier CRD42021266676.

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BACKGROUND: Significant 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. METHODS: Unsolved 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. RESULTS: In 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. CONCLUSION: AHA-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.

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Objectives: To determine the prevalence of diabetic retinopathy and undiagnosed diabetes among Delaware nursing home and assisted care facility residents. Methods: This cross-sectional study involved the statistical analysis of comprehensive eye examination records of 2,063 nursing home residents residing in 18 facilities and 4 assisted living facilities in Delaware from 2005 to 2009. Descriptive statistical analyses were conducted to identify the rates of retinal dot and blot hemorrhages and existing systemic diabetes diagnoses. Results: The mean age of nursing home and assisted care facility residents was 77 years (range 9-104), and 64.4% were over the age of 80. Most residents were female (61.1%) and white (72.5%). 3.6% of the 2,063 nursing home residents had blot or dot hemorrhages in one or both eyes. 32.8% had a type 1 or type 2 diabetes diagnosis. Of the ones with a positive dot and blot hemorrhage finding, 56.8% had a diagnosis of diabetes, and 43.2% did not. Discussion: There was a high prevalence of dot and blot hemorrhages without a systemic diagnosis of diabetes, indicating a need for regular eye care among residents.

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BACKGROUND: Hypertension is a common heart condition in the United States (US) and severely impacts racial and ethnic minority populations. While the understanding of hypertension has grown considerably, there remain gaps in US healthcare research. Specifically, there is a lack of focus on undiagnosed and uncontrolled hypertension in primary care settings. AIM: The present study investigates factors associated with undiagnosed and uncontrolled hypertension in primary care patients with hypertension. The study also examines whether Black/African Americans are at higher odds of undiagnosed and uncontrolled hypertension compared to White patients. METHODS: A cross-sectional study was conducted using electronic health records (EHR) data from the University of Utah primary care health system. The study included for analysis 24,915 patients with hypertension who had a primary care visit from January 2020 to December 2020. Multivariate logistic regression assessed the odds of undiagnosed and uncontrolled hypertension. RESULTS: Among 24,915 patients with hypertension, 28.6% (n = 7,124) were undiagnosed and 37.4% (n = 9,319) were uncontrolled. Factors associated with higher odds of undiagnosed hypertension included age 18-44 (2.05 [1.90-2.21]), Hispanic/Latino ethnicity (1.13 [1.03-1.23]),  Medicaid (1.43 [1.29-1.58]) or self-pay  (1.32 [1.13-1.53]) insurance, CCI 1-2 (1.79 [1.67-1.92]), and LDL-c ≥ 190 mg/dl (3.05 [1.41-6.59]). For uncontrolled hypertension, risk factors included age 65+ (1.11 [1.08-1.34]), male (1.24 [1.17-1.31]), Native-Hawaiian/Pacific Islander (1.32 [1.05-1.62])  or Black/African American race (1.24 [1.11-1.57]) , and self-pay insurance (1.11 [1.03-1.22]). CONCLUSION: The results of this study suggest that undiagnosed and uncontrolled hypertension is prevalent in primary care. Critical risk factors for undiagnosed hypertension include younger age, Hispanic/Latino ethnicity, very high LDL-c, low comorbidity scores, and self-pay or medicaid insurance. For uncontrolled hypertension, geriatric populations, males, Native Hawaiian/Pacific Islanders, and Black/African Americans, continue to experience greater burdens than their counterparts. Substantial efforts are needed to strengthen hypertension diagnosis and to develop tailored hypertension management programs in primary care, focusing on these populations.

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Our objectives were to ascertain the following: (1) the prevalence and socioeconomic distribution of hypertension (HTN), undiagnosed for HTN, and untreated cases of HTN-diagnosed individuals; (2) the relationship between SES and the prevalence of HTN, undiagnosed for HTN, and untreated for HTN; and (3) whether sex moderate this association. Data from the 2017-18 Bangladesh Demographic Health Survey were used. 11,776 participants who were 18 years of age or older responded to our analysis. The age-adjusted prevalence of HTN, undiagnosed for HTN, and untreated cases was 25.1%, 57.2%, and 12.3%. Compared to females, males were less likely to have HTN but more likely to have undiagnosed HTN. People in the rich SES groups had a higher odd of (adjusted odds ratio [aoR] 1.25; 95% confidence interval [CI] 1.08-3.45) of having HTN compared to those in the poor SES group. When compared to individuals in the poor SES group, those in the rich SES group had lower odds of undiagnosed (aoR 0.57; 95% CI 0.44-0.74) and untreated (aoR 0.56; 95% CI 0.31-0.98) for HTN. Sex moderated the association between SES and HTN prevalence, which showed that men from rich SES were more likely to suffer from HTN than men from poor SES. According to this study, the government and other pertinent stakeholders should concentrate more on developing suitable policy measures to reduce the risk of HTN, particularly for men in rich socioeconomic groups. They should also concentrate on screening and diagnosing HTN in socioeconomically disadvantaged populations, regardless of sex.

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PURPOSE: Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)? METHODS: The UDN is a national research resource to solve medical mysteries through team science. Applicants provide informed consent to access to their medical records. After review, expert panels assess if applicants meet inclusion and exclusion criteria to select participants. When not accepting applicants, UDN experts may offer suggestions for diagnostic efforts. Using minimal information from initial applications, we compare features in applicants who are not accepted with those who are accepted and either solved or still not solved by the UDN. The diagnostic suggestions offered to nonaccepted applicants and their clinicians were tallied. RESULTS: Nonaccepted applicants were more often female, older at first symptoms and application, and longer in review compared with accepted applicants. The accepted and successfully diagnosed applicants were younger, shorter in review time, more often non-White, of Hispanic ethnicity, and presenting with nervous system features. Half of nonaccepted applicants were given suggestions for further local diagnostic evaluation. A few seemed to have 2 major diagnoses or a provocative environmental exposure history. CONCLUSION: Comprehensive UDN record review generates possibly helpful advice.

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INTRODUCTION: Undiagnosed diabetes poses significant public health challenges in Ghana. Numerous factors may influence the prevalence of undiagnosed diabetes among adults, and therefore, using a model that takes into account the intricate network of these relationships should be considered. Our goal was to evaluate fasting plasma levels, a critical indicator of diabetes, and the associated direct and indirect associated or protective factors. METHODS: This research employed a cross-sectional survey to sample 1200 adults aged 25-70 years who perceived themselves as healthy and had not been previously diagnosed with diabetes from 13 indigenous communities within the Cape Coast Metropolis, Ghana. Diabetes was diagnosed based on the American Diabetes Association (ADA) criteria for fasting plasma glucose, and lipid profiles were determined using Mindray equipment (August 2022, China). A stepwise WHO questionnaire was used to collect data on sociodemographic and lifestyle variables. We analyzed the associations among the exogenous, mediating, and endogenous variables using a generalized structural equation model (GSEM). RESULTS: Overall, the prevalence of prediabetes and diabetes in the Cape Coast Metropolis was found to be 14.2% and 3.84%, respectively. In the sex domain, females had a higher prevalence of prediabetes (15.33%) and diabetes (5.15%) than males (12.62% and 1.24%, respectively). Rural areas had the highest prevalence, followed by peri-urban areas, whereas urban areas had the lowest prevalence. In the GSEM results, we found that body mass index (BMI), triglycerides (TG), systolic blood pressure (SBP), gamma-glutamyl transferase (GGT), and female sex were direct predictive factors for prediabetes and diabetes, based on fasting plasma glucose (FPG) levels. Indirect factors influencing diabetes and prediabetes through waist circumference (WC) included childhood overweight status, family history, age 35-55 and 56-70, and moderate and high socioeconomic status. High density lipoprotein (HDL) cholesterol, childhood overweight, low physical activity, female sex, moderate and high socioeconomic status, and market trading were also associated with high BMI, indirectly influencing prediabetes and diabetes. Total cholesterol, increased TG levels, WC, age, low physical activity, and rural dwellers were identified as indirectly associated factors with prediabetes and diabetes through SBP. Religion, male sex, and alcohol consumption were identified as predictive factors for GGT, indirectly influencing prediabetes and diabetes. CONCLUSIONS: Diabetes in indigenous communities is directly influenced by blood lipid, BMI, SBP, and alcohol levels. Childhood obesity, physical inactivity, sex, socioeconomic status, and family history could indirectly influence diabetes development. These findings offer valuable insights for policymakers and health-sector stakeholders, enabling them to understand the factors associated with diabetes development and implement necessary public health interventions and personalized care strategies for prevention and management in Ghana.

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Background: Hypermanganesemia with dystonia 1 (HMNDYT1) is a rare genetic disorder characterized by elevated blood manganese levels. This condition is associated with polycythemia, motor neurodegeneration with extrapyramidal features, and hepatic dysfunction, which can progress to cirrhosis in some patients. Materials and Methods: In this study, a consanguineous Saudi family with two affected individuals exhibiting symptoms of severe motor impairment, spastic paraparesis, postural instability, and dystonia was studied. Clinical and radiographic evaluations were conducted on the affected individuals. Whole exome sequencing (WES) was performed to diagnose the disease and to determine the causative variant underlying the phenotype. Moreover, Sanger sequencing was used for validation and segregation analysis of the identified variant. Bioinformatics tools were utilized to predict the pathogenicity of candidate variants based on ACMG criteria. Results: Exome sequencing detected a recurrent homozygous missense variant (c.266T>C; p.L89P) in exon 1 of the SLC30A10 gene. Sanger sequencing was employed to validate the segregation of the discovered variant in all available family members. Bioinformatics tools predicted that the variant is potentially pathogenic. Moreover, conservation analysis showed that the variant is highly conserved in vertebrates. Conclusions: This study shows that exome sequencing is instrumental in diagnosing undiagnosed neurodevelopmental disorders. Moreover, this study expands the mutation spectrum of SLC30A10 in distinct populations.

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Background: Low 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. Methods: This 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. Results: An 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. Conclusions: Living 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. Supplementary Information: The online version contains supplementary material available at 10.1186/s44263-024-00075-0.

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Raised blood pressure (BP) is the leading preventable risk factor for cardiovascular diseases that makes a major impact on early mortality and morbidity. Recognizing hypertension in the community, educating people about routine BP monitoring, and improving medication compliance are all important steps in detecting, controlling, and managing hypertension. During the course of 5 months, members of the Indian Society of Hypertension organized unique medical indoor and outdoor camps at 100 screening locations around India for the May Measurement Month (MMM) 2021 study. At every location, BP was measured three times, and a questionnaire was completed. Participants known to have hypertension before the study whether taking or not taking treatment were not included (not a normal pre-requisite for exclusion in MMM). The analysis included 15 045 participants in total. After calculating the average of the second and third BP measurements, 16.4% of participants were found to have hypertension based on ≥140/90 mmHg thresholds (2461 out of 15 045). 14.0% of females and 16.4% of males had hypertension. 16.4% of participants had undiagnosed hypertension and were not receiving treatment. The MMM screening campaign has the potential for identifying large numbers of people with undiagnosed hypertension and raising awareness of the importance of raised BP among the general public, medical professionals, policymakers, the government, and the media. Future BP screening campaigns should be larger in scope and involve follow-ups with past participants.

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Objective: To develop a predictive model for undiagnosed hypertension (UHTN) in older adults based on five modifiable factors [eating behaviors, emotion, exercise, stopping smoking, and stopping drinking alcohol (3E2S) using machine learning (ML) algorithms. Methods: The supervised ML models [random forest (RF), support vector machine (SVM), and extreme gradient boosting (XGB)] with SHapley Additive exPlanations (SHAP) prioritization and conventional statistics (χ2 and binary logistic regression) were employed to predict UHTN from 5,288 health records of older adults from ten primary care hospitals in Thailand. Results: The χ2 analyses showed that age and eating behavior were the predicting features of UHTN occurrence. The binary logistic regression revealed that taking food supplements/vitamins, using seasoning powder, and eating bean products were related to normotensive and hypertensive classifications. The RF, XGB, and SVM accuracy were 0.90, 0.89, and 0.57, respectively. The SHAP identified the importance of salt intake and food/vitamin supplements. Vitamin B6, B12, and selenium in the UHTN were lower than in the normotensive group. Conclusion: ML indicates that salt intake, soybean consumption, and food/vitamin supplements are primary factors for UHTN classification in older adults.

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Although next-generation sequencing has enabled diagnoses for many patients with Mendelian disorders, the majority remain undiagnosed. Here, we present a sibling pair who were clinically diagnosed with Escobar syndrome, however targeted gene testing was negative. Exome sequencing (ES), and later genome sequencing (GS), revealed compound heterozygous TTN variants in both siblings, a maternally inherited frameshift variant [(NM_133378.4):c.36812del; p.(Asp12271Valfs*10)], and a paternally inherited missense variant [(NM_133378.4):c.12322G > A; p.(Asp4108Asn)]. This result was considered nondiagnostic due to poor clinical fit and limited pathogenicity evidence for the missense variant of uncertain significance (VUS). Following initial nondiagnostic RNA sequencing (RNAseq) on muscle and further pursuit of other variants detected on the ES/GS, a reanalysis of noncanonical splice sites in the muscle transcriptome identified an out-of-frame exon retraction in TTN, near the known VUS. Interim literature included reports of patients with similar TTN variants who had phenotypic concordance with the siblings, and a diagnosis of a congenital titinopathy was given 4 years after the TTN variants had been initially reported. This report highlights the value of reanalysis of RNAseq with a different approach, expands the phenotypic spectrum of congenital titinopathy and also illustrates how a perceived phenotypic mismatch, and failure to consider known variants, can result in a prolongation of the diagnostic journey.

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Background: The prevalence of diabetes has risen fast with a considerable weighted prevalence of undiagnosed diabetes or uncontrolled diabetes. Then it becomes more necessary to timely screen out and monitor high-risk populations who are likely to be ignored during the COVID-19 pandemic. To classify and find the common risks of undiagnosed diabetes and uncontrolled diabetes, it's beneficial to put specific risk control measures into effect for comprehensive primary care. Especially, there is a need for accurate yet accessible prediction models. Objective: Based on a cross-sectional study and secondary analysis on the health examination held in Changchun City (2016), we aimed to evaluate the factors associated with hyperglycemia, analyze the management status of T2DM, and determine the best cutoff value of incidence of diabetes in the first-degree relatives to suggest the necessity of early diagnosis of diabetes after first screening. Results: A total of 5658 volunteers were analyzed. Prevalence of T2DM and impaired fasting glucose were 8.4% (n=477) and 11.5% (n=648), respectively. There were 925 participants (16.3%) with a family history of T2DM in their first-degree relatives. Multivariable analysis demonstrated that family history was associated with hyperglycemia. Among the 477 patients with T2DM, 40.9% had not been previously diagnosed. The predictive equation was calculated with the following logistic regression parameters with 0.71 (95% CI: 0.67-0.76) of the area under the ROC curve, 64.0% of sensitivity and 29% of specificity (P < 0.001): P = \frac{1}{1 + e^{-z}}, where z = -3.08 + [0.89 (Family history-group) + 0.69 (age-group)+ 0.25 (BMI-group)]. Positive family history was associated with the diagnosis of T2DM, but not glucose level in the diagnosed patients. The best cutoff value of incidence of diabetes in the first-degree relatives was 9.55% (P < 0.001). Conclusions: Family history of diabetes was independently associated with glucose dysfunction. Classification by the first-degree relatives with diabetes is prominent for targeting high-risk population. Meanwhile, positive family history of diabetes was associated with diabetes being diagnosed rather than the glycemic control in patients who had been diagnosed. It's necessary to emphasize the linkage between early diagnosis and positive family history for high proportions of undiagnosed T2DM.

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AIMS: This research aims to provide an overview of the consequences of undiagnosed nonadherence (noninitiation, suboptimal implementation, nonpersistence) in randomized clinical trials (RCTs). METHODS: This research was conducted by combining a literature review and qualitative semistructured interviews with key opinion leaders. Based on this groundwork, the consequences of undiagnosed nonadherence in RCTs were summarized and reported in a figure. This study focused on phases II, III and post-marketing in ambulatory settings across a variety of therapeutic areas and indications. RESULTS: Various consequences of nonadherence in RCTs were investigated. In phase II, drug efficacy may be underestimated, variability in the outcomes may be high and a distorted picture of side effects could be reported, resulting in an uncertain impression of the investigational product's profile and complicating decision-making. The sponsor may need to increase the sample size of the upcoming phase III study to improve its power, representing additional costs, or even terminate the study. In phase III, similar phenomena may be observed, making demonstration of efficacy to the regulatory bodies more difficult. Lastly, after commercialization, a distortion in pharmacometrics may occur: the drug may underperform, prescriptions may be refilled less often than expected or extra expenses may be incurred by the payers. This can result in post-marketing dose reduction, new competitors coming into the market and, eventually, product withdrawal. CONCLUSIONS: This research highlighted the many potential adverse consequences of undiagnosed nonadherence in RCTs, including additional costs. Collecting accurate data appeared to be crucial for decision-making throughout the drug development process.

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