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BACKGROUND: Due to the high cost and complexity, the oral glucose tolerance test is not adopted as the screening method for identifying diabetes patients, which leads to the misdiagnosis of patients with isolated post-challenge hyperglycemia (IPH), that is., patients with normal fasting plasma glucose (<7.0 mmoL/L) and abnormal 2-h postprandial blood glucose (≥11.1 mmoL/L). We aimed to develop a model to differentiate individuals with IPH from the normal population.
METHODS: Data from 54301 eligible participants were obtained from the Risk Evaluation of Cancers in Chinese Diabetic Individuals: a longitudinal (REACTION) study in China. Data from 37740 participants were used to develop the diagnostic system. External validation was performed among 16561 participants. Three machine learning algorithms were used to create the predictive models, which were further evaluated by various classification algorithms to establish the best predictive model.
RESULTS: Ten features were selected to develop an IPH diagnosis system (IPHDS) based on an artificial neural network. In external validation, the AUC of the IPHDS was 0.823 (95% CI 0.811-0.836), which was significantly higher than the AUC of the Taiwan model [0.799 (0.786-0.813)] and that of the Chinese Diabetes Risk Score model [0.648 (0.635-0.662)]. The IPHDS model had a sensitivity of 75.6% and a specificity of 74.6%. This model outperformed the Taiwan and CDRS models in subgroup analyses. An online site with instant predictions was deployed at https://app-iphds-e1fc405c8a69.herokuapp.com/.
CONCLUSIONS: The proposed IPHDS could be a convenient and user-friendly screening tool for diabetes during health examinations in a large general population.

OBJECTIVE: Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.
METHODS: We retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.
RESULTS: Our data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, n = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (n = 11). Exome sequencing was done for 27 patients, including n = 14 with non-diagnostic panel testing; it led to a diagnosis in 37.3% (n = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.
CONCLUSIONS: In this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.

BACKGROUND: Southern African countries have the largest global burden of HIV and syphilis, with a high prevalence among women of reproductive age. Although antenatal screening is standard of care, syphilis screening has generally lagged behind HIV screening. We aimed to evaluate the performance and operational characteristics of two commercial dual HIV/syphilis point-of-care tests (POCTs) for simultaneous maternal HIV/syphilis screening.
METHODS: A clinic-based evaluation of dual HIV/syphilis POCTs (SD Bioline and Chembio) was conducted at five primary healthcare centres (PHCs) in South Africa and Zambia. POCT results using capillary fingerprick blood were compared to reference laboratory syphilis and HIV serological assays.
RESULTS: Three thousand four hundred twelve consenting pregnant women aged ≥ 18 years were enrolled. The prevalence of treponemal antibody seropositivity and HIV infection ranged from 3.7 to 9.9% (n = 253) and 17.8 to 21.3% (n = 643), respectively. Pooled sensitivity for syphilis compared to the reference assay was 66.0% (95%CI 57.7-73.4) with SD Bioline and 67.9% (95%CI 58.2-76.3) with Chembio. Pooled specificity for syphilis was above 98% with both POCTs. The sensitivities of SD Bioline and Chembio assays were 78.0% (95%CI 68.6-85.7) and 81.0% (95%CI 71.9-88.2), respectively compared to an active syphilis case definition of treponemal test positive with a rapid plasma reagin titre of ≥ 8. The negative predictive values (NPVs) based on various prevalence estimates for syphilis with both assays ranged from 97 to 99%. The pooled sensitivity for HIV was 92.1% (95%CI 89.4-94.2) with SD Bioline; and 91.5% (95%CI 88.2-93.9) with Chembio. The pooled specificities for HIV were 97.2% (95%CI 94.8-98.5) with SD Bioline and 96.7% (95%CI 95.1-97.8) with Chembio. The NPV based on various prevalence estimates for HIV with both assays was approximately 98%. Most participating women (91%) preferred dual POCTs over two single POCTs for HIV and syphilis, and healthcare providers gave favourable feedback on the utility of both assays at PHC level.
CONCLUSIONS: Based on the need to improve antenatal screening coverage for syphilis, dual HIV/syphilis POCTs could be effectively incorporated into antenatal testing algorithms to enhance efforts towards elimination of mother-to-child transmission of these infections.

Community-acquired pneumonia (CAP) is often considered for children presenting to the emergency department (ED) with respiratory symptoms. It is unclear how often children are diagnosed with CAP following an ED visit for respiratory illness. We performed a retrospective case-control study to evaluate 7-day CAP diagnosis among children 3 months to 18 years discharged from the ED with respiratory illness from 2011 to 2021 and who receive care at 4 hospital-affiliated primary care clinics. Logistic regression was performed to assess for predictors of 7-day CAP diagnosis. Seventy-four (0.7%, 95% confidence interval [CI] = 0.6%, 0.9%) of 10 329 children were diagnosed with CAP within 7 days, and fever at the index visit was associated with increased odds of diagnosis (odds ratio [OR] = 3.32, 95% CI = 1.75-6.28). Community-acquired pneumonia diagnosis after discharge from the ED with respiratory illness is rare, even among children who are febrile at time of initial evaluation.

Epilepsy surgery is effective for patients with medication-resistant seizures, however 20-40% of them are not seizure free after surgery. Aim of this study is to evaluate the role of linear and non-linear EEG features to predict post-surgical outcome. We included 123 paediatric patients who underwent epilepsy surgery at Bambino Gesù Children Hospital (January 2009-April 2020). All patients had long term video-EEG monitoring. We analysed 1-min scalp interictal EEG (wakefulness and sleep) and extracted 13 linear and non-linear EEG features (power spectral density (PSD), Hjorth, approximate entropy, permutation entropy, Lyapunov and Hurst value). We used a logistic regression (LR) as feature selection process. To quantify the correlation between EEG features and surgical outcome we used an artificial neural network (ANN) model with 18 architectures. LR revealed a significant correlation between PSD of alpha band (sleep), Mobility index (sleep) and the Hurst value (sleep and awake) with outcome. The fifty-four ANN models gave a range of accuracy (46-65%) in predicting outcome. Within the fifty-four ANN models, we found a higher accuracy (64.8% ± 7.6%) in seizure outcome prediction, using features selected by LR. The combination of PSD of alpha band, mobility and the Hurst value positively correlate with good surgical outcome.

Abdominal volvulus represents a critical condition characterized by the abnormal twisting of the GI tract, potentially leading to obstruction and vascular compromise. Prompt recognition and appropriate management are essential to prevent complications and improve patient outcomes. This comprehensive review examines the anatomy, pathophysiology, clinical presentation, and diagnostic evaluation of, and management strategies for abdominal volvulus. Non-operative techniques, including detorsion and decompression, as well as surgical interventions, such as laparoscopic and open approaches, are discussed. Additionally, the importance of multidisciplinary collaboration and postoperative care is emphasized. Despite significant advancements, unresolved issues remain, necessitating further research to refine diagnostic and therapeutic approaches. Future directions, including exploring emerging technologies, offer promise for enhancing the management of this challenging condition. Overall, this review provides clinicians with valuable insights into the optimal management of abdominal volvulus, aiming to improve patient outcomes and enhance clinical practice.

Dementia, particularly Alzheimer\'s disease, affects millions globally, with its prevalence increasing notably with age. Early-onset Alzheimer\'s disease, however, affects individuals under 65 years old. Unfortunately, diagnosing dementia in patients under 65 years old is quite challenging and is often delayed, missed, or wrong. Thus, we present the case of a 60-year-old female, with a medical history of hypothyroidism and presumed dementia on donepezil, who presented to the emergency department for agitation, dramatic change in personality and behavior, as well as cognitive decline that started in her late 50s. We discuss the importance of performing a thorough history and physical examination, as well as a comprehensive workup for patients who present with dramatic changes in behavior due to the wide range of potential diagnoses. While certain reversible causes, such as hypothyroidism, nutritional deficiencies, and polypharmacy, can be promptly identified and treated, chronic neurocognitive disorders such as Alzheimer\'s disease demand a timely evaluation for early multidisciplinary treatment to enhance patient outcomes.

The study compares receipt and timeliness of newborn hearing screening and follow-up diagnostic services between the pre-pandemic birth cohort and the pandemic birth cohort in four participating states. Findings from this study will help inform state Early Hearing Detection and Intervention (EHDI) programs in the future should a major public health event occur again.

OBJECTIVE:  Most assessment tools used to diagnose and characterize autism spectrum disorder (ASD) were developed for in-person administration. The coronavirus disease 2019 (COVID-19) pandemic resulted in the need to adapt traditional assessment tools for online administration with only minimal evidence to support validity of such practices.
METHODS: The current exploratory study compared scores from online administration of the Kaufman Brief Intelligence Test, Second Edition (KBIT-2) during the pandemic to scores derived from follow-up testing using traditional in-person administration. Participants were 47 children and adolescents (M age = 9.48 years, SD = 4.06; 68.10% male) who participated in a telehealth diagnostic evaluation for ASD that included online administration of the KBIT-2. Participants were invited to complete the KBIT-2 a second time during an in-person study visit.
RESULTS: Pearson\'s correlation coefficients suggested acceptable to good reliability between online and in-person administration. Although most participants\' online and in-person scores were within one standard deviation of each other, results suggested statistically significant differences between scores derived from the two modalities. Additionally, 19-26% of participants (depending on domain examined) had scores that differed by more than one standard deviation. Notably, all but one of these participants was under the age of 12 years.
CONCLUSIONS: Findings suggest that online administration of the KBIT-2 is likely appropriate for older children and adolescents with ASD. However, additional research is needed to test online administration of intellectual assessments for children with ASD.