Routine Screening Research Articles

Age to Initiate Routine Breast Cancer Screening.

This Clinical Practice Update provides revised guidance on the age to start routine breast cancer screening with mammography. This document is a focused update of related content in Practice Bulletin No. 179, Breast Cancer Risk Assessment and Screening in Average-Risk Women (Obstet Gynecol 2017;130:e1-16).

High caregiver adverse childhood experiences are associated with increased pediatric infection-related healthcare utilization and antibiotic use

Abstract Background Higher caregiver adverse childhood experiences (ACEs) have been associated with a range of pediatric outcomes, including hospitalizations. We recently found that higher caregiver ACEs are associated with higher rates of influenza vaccine uptake. However, to our knowledge, no studies have examined links between caregiver ACEs and specific infections or infection-related outcomes, such as antibiotics prescribed. We sought to evaluate associations between caregiver ACEs and pediatric infection-related outcomes. Methods We conducted a retrospective cohort study of two pediatric primary care sites, each serving a predominantly non-Hispanic Black, publicly insured population. At one primary care site (Clinic A), routine screenings for caregiver ACEs began in 2019 at the 1-month well-child check and were retrieved from the electronic health record. For the other primary care site (Clinic B), a prior research study surveyed caregiver ACEs of 283 children. Focusing on children 0-4 years of age in both primary care sites, we retrieved data from the electronic health record, including patient infection-related outcomes, demographic characteristics, and social risk screen results for those who had caregiver ACEs systematically recorded. The number of reported caregiver ACEs was our exposure variable, dichotomized as high (≥4) or low (≤3). Patient demographic characteristics, results of the overall social risk and maternal depression screen, and area deprivation index scores linked to patients’ geocoded home addresses were also collected. Bivariate analyses were pursued using chi square test statistics. Results A total of 1,442 children 0-4 years of age were included in the study, and 50.0% were female, 74.7% Black, and 2.6% Hispanic. Fifteen percent of caregivers had high (≥4) ACEs. Differences in infection-related outcomes, and relevant covariates, based on high and low caregiver ACEs are depicted in Table 1. Children of caregivers with high ACEs had more outpatient infection-related visits (80% versus 72.6%, p = 0.03), including more diagnoses of streptococcal pharyngitis (10.1% versus 4.1%, p = 0.0004). They also had more prescriptions for any oral antibiotic (30.9% versus 23.2%, p = 0.02). In bivariate analyses, high caregiver ACEs (31.3% versus 23.7%, p = 0.03), lower area deprivation index score (mean (SD) of 0.47 (0.16) versus 0.50 (0.16), p < 0.01), older patient age (mean (SD) of 2.73 (1.10) versus 1.73 (1.00) years, p < 0.0001), and any outpatient (35.9% versus 2.2%, p < 0.0001), emergent (40.0% versus 10.9%, p < 0.0001), or inpatient visit (42.7% versus 23.0%, p < 0.0001) were each associated with the presence of antibiotic use. Race, ethnicity, a positive social risk screen, and positive depression screen were not associated with antibiotic use. Conclusion High caregiver ACEs appear to be associated with some types of pediatric infectious diagnoses, antibiotic use and increased infection-related outpatient healthcare utilization. Future adjusted analyses assessing for potential links between ACEs and infection-related outcomes, independent of variables like insurance status, social risk, and area-level deprivation, are warranted and planned.

Occurrence of Extended-spectrum β-lactamase (ESBL) and Carbapenemase-producing Escherichia coli isolated from Childhood Diarrhoea in Yaoundé, Cameroon

IntroductionExtended-spectrum β-lactamase (ESBL)-producing pathogenic E. coli is a global public health issue, especially in sub-Saharan African countries such as Cameroon. It contributes to increase significantly hospital length of stay, morbidity, mortality and economic costs because of treatment failures. This study aims at determining the resistance background and virulence profiles of ESBL-E. coli isolates among childhood diarrhoea during the cholera outbreak occuring in Yaoundé, Cameroon.Materials and methodsDuring a four-month periods, from March 1st to June 30th, 2023, a total of 84 stool samples were collected from 90 under five children presenting clinical signs of gastroenteritis and attending four hospitals in Yaoundé, Cameroon. Bacterial identification was done using API20E and antimicrobial susceptibility test was performed using the Kirby-Bauer disc diffusion method. After extraction, genomic DNA was subjected to conventional and multiplex polymerase chain reaction methods (PCRs) for detection of resistance and virulence genes. Statistical analysis was performed using Epi info™ (7.2.5.0). Statistical significance was considered at a p-value < 0.05.ResultsOut of 150 patients contacted, 90 patients were enrolled, 84 samples were collected, 52.38%(44/84) and 3.57%(03/84) were confirmed as extended-spectrum β-lactamase and carbapenemase-producing E. coli respectively. The risk factors were analyzed, and children who drank natural fruit juice (OR: 0.4, p-value: 0.03) were found to be significantly associated with ESBL-producing E. coli. The ESBL-producing E. coli isolates showed a high level of resistance to amoxicillin-clavulanic acid, cefotaxime, ceftazidime, cefepime, colistin, and tetracycline. The blaCTX−M was more prevalent ß-lactamase resistance gene. The tetracycline resistance genes tet(A) and tet(B) were also detected. The most important virulence genes detected were FimH (81.81%) and papA (79.54%).ConclusionThese findings suggest implementing routine surveillance and screening for antimicrobial resistance among children under five. Antimicrobial stewardship strategies (ASP) need to be implemented to curb the emergence and dissemination of ESBL-producing E. coli. In addition, a national surveillance program for antimicrobial resistance needs to be implemented at local and regional levels in order to reduce morbidity in Cameroon.

Assessment of the quality and content of clinical practice guidelines for vitamin D and for immigrants using the AGREE II instrument: global systematic review

BackgroundWorldwide, more immigrants experience vitamin D (vitD) deficiency than non-immigrants. Recommendations in current clinical practice guidelines (CPGs) concerning vitD are inadequate to address vitD deficiency among immigrants, and there are...

False HbA1c value due to a rare variant of hemoglobin Petie Salpetriere coinherited with alpha thalassemia

Abstract Objectives To describe a variant hemoglobin that interferes with HbA1c analysis by cation exchange HPLC. Case presentation A 78 years-old Spanish male patient visited the Internal Medicine Clinic for a routine check-up, with HbA1c included to screen for diabetes. He had suffered hypertension and dyslipidemia, and the patient had no previous symptoms suggestive of diabetes such as hyperglycemia, weight loss, polydipsia, polyuria or tiredness. Diabetes screening by HbA1c measurement was assessed using cation exchange HPLC and an immunoassay point-of-care analyzer. Routine hemoglobinopathy screening was performed including CBC, HbF and HbA2 measurement by cation exchange HPLC and capillary electrophoresis (CE). Further variant characterization was undertaken by DNA sequencing. Discordant HbA1c results were obtained for our subject, with elevated HbA1c of 52 mmol/mol measured by cation exchange HPLC and a normal level of 34 mmol/mol by immunoassay. Abnormal HbA1c peak shape prompted hemoglobinopathy screening to investigate potential variant interference. A globin gene analysis was performed, and the results showed a variant hemoglobin named ‘Hb Petie Salpetriere’. This variant arises from a Val → Phe substitution due to a mutation of c.103G&gt;T of the beta-globin gene [BETA34 (B16) Val&gt;Phe; HBB:c.103G&gt;T]. Conclusions This is the first reported case involving the Hb Petie Salpetriere variant in a Spanish patient. The present results show that the Hb Petie Salpetriere variant can affect the results of HbA1c analysis through ion-exchange HPLC, but not that obtained from the latex agglutination immunoassay. Only ion-exchange HPLC suggested the presence of the Hb variant in this case, suggesting that a careful review of the resulting chromatogram might reveal a potential variant.

Knowledge, attitudes, and support needs of obstetric and gynecological nurses and midwives toward perinatal mental health disorders screening in Central China: a multicenter cross-sectional survey.

The perinatal period is a time of increased vulnerability regarding maternal mental health status. Although guidelines and policies have been published for perinatal mental health disorders (PMHDs) screening in China, the knowledge, attitudes, and support needs of nurses and midwives toward implementing mental health screening programs during pregnancy remain unclear. Thus, this study aimed to investigate the knowledge of PMHDs, attitudes and support needs related to implementing mental health screening during pregnancy among obstetrics and gynecology (OB/GYN) nurses and midwives in the central region of China while identifying the related influencing factors. A cross-sectional survey was conducted in 14 cities in Hubei, China, using convenience sampling from July to October 2023. The Chinese version of the Perinatal Mental Health Knowledge Questionnaire, the Chinese version of the Perinatal Mental Health Attitudes Scale, and the Health Care Facilities Support Needs Scale were used to investigate the PMHDs knowledge, attitudes, and support needs of OB/GYN nurses and midwives, respectively. Data were analyzed using SPSS version 27.0. Descriptive and inferential statistics were performed, with a p-value of <0.05 considered statistically significant. The average scores for knowledge, attitudes, and support needs were 6.09 ± 1.99 (total score: 13), 47.67 ± 8.80 (total score: 80), and 29.35 ± 4.66 (total score: 35), respectively. After adjusting for years of nursing experience and years of obstetrics and gynecology nursing experience, the multivariate logistic regression analysis indicated that having mental health-related education or work experience [adjusted OR (aOR) = 1.43, p = 0.01], being midwives (aOR = 1.78, p < 0.001), and working in specialist maternity hospitals (aOR = 1.55, p < 0.001) were significantly associated with higher knowledge scores; having mental health related education or work experience (aOR = 1.59, p = 0.014) and working in specialist maternity hospitals (aOR = 1.42, p < 0.01) were significantly associated with higher support needs scores. OB/GYN nurses and midwives demonstrated insufficient knowledge and moderate attitudes toward PMHDs screening, and have great support need for PMHDs screening. To address these issues, medical organizations and relevant government sectors should enhance training for nurses and midwives on PMHDs and provide professional support to promote routine maternal mental health screening programs and improve perinatal mental health outcomes.

Occurrence and seroprevalence of infectious viral, bacterial, and protozoal diseases among patients attending the Ore General Hospital in southwestern Nigeria

Infectious diseases caused by viruses, bacteria, protozoans, and fungi continue to pose significant challenges globally, with transmission routes including person-to-person contact, animal vectors, and environmental exposure. Despite global efforts to control these diseases, limited studies and resource constraints in Ore, Nigeria, have led to increasing prevalence, highlighting the need for targeted public health interventions. This study aimed to determine the distribution of infectious diseases among patients attending General Hospital Ore, Odigbo, Nigeria. Serum samples from consenting patients were assayed for the presence of malaria parasites, human immunodeficiency virus (HIV), hepatitis B surface antigen (HBsAg), Salmonella infection, Helicobacter pylori infection, high vaginal swab (HVS) results, and urinary tract infections (UTIs). The subjects included 1900 males (38.8%) and 3000 females (61.2%). The overall prevalence rates were as follows: HIV (40%), malaria (35%), typhoid (37.5%), HBsAg (20%), H. pylori (6.3%), HVS (45%), and UTIs (10%). The high rates of infectious diseases observed in this study, compared to rates reported elsewhere, suggest the need to strengthen public health measures and infection prevention strategies in the area. In addition, routine screening for these diseases and early passive or active immunization for vaccine-preventable diseases are essential to further reduce the burden of these infections.

Paper-Based DNA Biosensor for Rapid and Selective Detection of miR-21.

Cancer is the second leading cause of death globally, with 9.7 million fatalities in 2022. While routine screenings are vital for early detection, healthcare disparities persist, highlighting the need for equitable solutions. Recent advancements in cancer biomarker identification, particularly microRNAs (miRs), have improved early detection. MiR-21 is notably overexpressed in various cancers and can be a valuable diagnostic tool. Traditional detection methods, though accurate, are costly and complex, limiting their use in resource-limited settings. Paper-based electrochemical biosensors offer a promising alternative, providing cost-effective, sensitive, and rapid diagnostics suitable for point-of-care use. This study introduces an innovative electrochemical paper-based biosensor that leverages gold inkjet printing for the quantitative detection of miR-21. The biosensor, aimed at developing cost-effective point-of-care devices for low-resource settings, uses thiolated self-assembled monolayers to immobilize single-stranded DNA-21 (ssDNA-21) on electrodeposited gold nanoparticles (AuNPs) on the printed gold surface, facilitating specific miR-21 capture. The hybridization of ssDNA-21 with miR-21 increases the anionic barrier density, impeding electron transfer from the redox probe and resulting in a current suppression that correlates with miR-21 concentration. The biosensor exhibited a linear detection range from 1 fM to 1 nM miR-21 with a sensitivity of 7.69 fM µA-1 cm2 and a rapid response time (15 min). With a low detection limit of 0.35 fM miR-21 in serum, the biosensor also demonstrates excellent selectivity against interferent species. This study introduces an electrochemical paper-based biosensor that uses gold inkjet printing to precisely detect miR-21, a key biomarker overexpressed in various cancers. This innovative device highlights the potential for cost-effective, accessible cancer diagnostics in underserved areas.

Step-by-step: A clinical pathway for stepped care management of fear of cancer recurrence-results of a three-round online delphi consensus process with Australian health professionals and researchers.

Fear of cancer recurrence (FCR) is not routinely addressed in clinical practice, meaning many cancer survivors forego effective interventions. We established expert consensus on a clinical pathway to help health professionals identify and manage FCR in early-stage cancer survivors. Australian health professionals and researchers working with adult cancer survivors participated in a three-round Delphi study promoted via oncology professional bodies and social media. The Round 1 online survey presented 38 items regarding FCR screening, triage, assessment, referral, and stepped care, based on a literature review, related pathways/guidelines, and expert input. Participants rated how representative of best-practice items were on a 5-point scale (strongly disagree-strongly agree), with optional qualitative feedback. Consensus was defined as ≥ 80% of participants strongly/agreeing with items. Items not reaching consensus were re-presented to Round 1 participants in two subsequent rounds with new items, derived from content analysis of qualitative feedback. From 94 participants in Round 1 (89% health professionals), 26/38 (68%) items reached consensus. By round 3, 35/38 (92%) items, including 8 new items, reached consensus. Routine FCR screening and triage conversations and stepped care management (i.e. tailored and staged treatment) were endorsed. However, the timing of FCR screening/triage did not reach consensus. This world-first FCR clinical pathway incorporating contemporary evidence and expert opinion recommends routine screening and triage to stepped care management of FCR. Some pathway components, such as screening or triage timing, may need tailoring for different contexts. Implementation of the pathway could aid routine identification and management of FCR, reducing its burden on cancer survivors and the healthcare system.

A scoping review of evidence on routine cervical cancer screening in South Asia: investigating factors affecting adoption and implementation.

Adopting the "Arksey and O'Malley and Levac et al." methodology, databases such as PubMed, CINAHL, Web of Science, and Scopus were scrutinized in the pursuit of relevant studies. Subsequently, the collected data were synthesized by adopting the Consolidated Framework for Implementation Research (CFIR) model. A total of 837 records were initially identified and screened for eligibility, including 55 studies. The successful adoption and implementation of cervical cancer screening in South Asia encounter numerous obstacles within the health system, including the absence of a comprehensive program protocol for screening, inadequate health infrastructure, and the presence of multiple sociocultural factors, such as social stigma, low levels of education, and concerns related to modesty. To optimize adoption and implementation, it is imperative to construct a customized policy framework that incorporates a risk communication strategy tailored to the specific contexts of these nations. Drawing insights from the experiences of South Asian countries in executing cervical cancer screening programs can inform the formulation of policies for similar healthcare initiatives aimed at facilitating the expansion of HPV vaccination efforts.

Assessment of Cochlear Function Among Hypertensive Patients in Bauchi: A Cross-Sectional Cohort Study

Background: Hypertension is an important public-health problem, and it has been identified as the leading cause of morbidity and mortality due to the high incidence of end-organ damages. Unlike other complications of hypertension, cochlear dysfunction in hypertensive patients is a hidden and progressive damage that remains undetected (subclinical) for a long time. The aim of this study was to assess the prevalence of subclinical hearing impairment, as well as the type and degree of hearing loss among hypertensive patients in our environment. Methods: This was a cross-sectional cohort study conducted among adults diagnosed with hypertension previously. Ethical clearance and informed consent were obtained. Previous history of related exposure event (hypertension) and outcome (hearing loss) was assessed. Each participant was then subjected to c-PTA and EHA tests, and findings were analyzed. Results: One hundred and ninety (190) hypertensive patients were enrolled, among which 107 (56.3%) were females and 83 (43.7%) males. Hypertension was more common in the age group of 51-60 years (26.8%) and 61-70 years (30.5%). The overall prevalence of hearing loss was 41.6%, of which 18.4% had subclinical hearing impairment. The most common type of hearing loss was sensorineural 68 (86.1%), found to be in varying degrees of 33.8%, 26.5%, 23.5%, and 16.2% for mild, moderate, severe, and profound hearing loss, respectively. Conclusion: The overall prevalence of hearing loss among hypertensive patients was 41.6%, with a significant proportion (18.4%) having subclinical hearing loss, which is not noticed by the patients. Therefore, routine pure tone audiometric hearing screening for all hypertensives is recommended to enable early detection and treatment of this hearing loss.

Assessing the Serum Triglyceride and Fasting plasma Glucose Ratio as a Predictor of Left Ventricular Diastolic Dysfunction in Type 2 Diabetes Mellitus, A Cross-sectional study.

Introduction: Cardiovascular complications, including left ventricular diastolic dysfunction (LVDD), are major concerns in Type 2 Diabetes Mellitus (T2DM) patients, often preceding heart failure and increasing mortality. Early detection of LVDD is essential to improving outcomes, yet current diagnostic methods are often costly and impractical for routine screening. This study aimed to evaluate the correlation between the serum triglyceride to fasting plasma glucose (TG/FPG) ratio and LVDD in T2DM patients, as a potential cost-effective biomarker for cardiovascular risk stratification. Methodology: This observational analytical study was conducted over a period of one year at a tertiary care hospital in northeast India to assess the correlation of TG/FPG ratio with LVDD in patients with T2DM. A total of 100 participants, aged 18 years or above and diagnosed with T2DM, were included. Exclusion criteria comprised Type 1 Diabetes Mellitus, pregnancy, pre-existing hypertension, cardiovascular diseases, and patients denying consent. Participants were recruited using convenient sampling, with every alternate eligible patient enrolled until the target sample size was reached. Data collection included measuring fasting plasma glucose (FPG) and postprandial blood glucose, HbA1c, fasting lipid profile, kidney function test, and urinalysis. The cardiovascular evaluation consisted of chest radiography, electrocardiogram, and echocardiography using standardized parameters to classify LVDD into grades I, II, and III, based on E/A and E/e’ ratios. Statistical analysis was performed using SPSS version 15, with Chi-square test and student’s t-tests applied for significance (p-value &lt; 0.05), and regression analysis was used to identify associations. Ethical approval was obtained, and participant confidentiality was maintained throughout the study. Result: A cross-sectional study was conducted over one years at a tertiary hospital in northeast India, enrolling 100 participants with T2DM, excluding those with comorbidities or cardiovascular symptoms. The mean age of participants was 45.52 years, with a male-to-female ratio of 1.21:1. Diastolic dysfunction was evaluated using echocardiography, and the TG/FPG ratio was calculated for each patient. LVDD was found in 58.7% of the participants, classified into grade I (40.4%), grade II (13.5%), and grade III (4.8%). Statistical analysis revealed a significant positive correlation between the TG/FPG ratio and LVDD (p- value= 0.0001). Higher TG/FPG ratios were associated with worse diastolic function, suggesting that this ratio reflects combined metabolic disturbances contributing to myocardial dysfunction. Patients with LVDD had significantly higher lipid profiles and poorer glycemic control compared to those with normal LV function. The TG/FPG ratio, being easily obtainable from routine laboratory tests, offers a convenient tool for identifying individuals at higher risk for LVDD. Conclusion: The TG/FPG ratio may serve as a simple, accessible, and cost-effective marker for early detection of LVDD in T2DM patients. Incorporating this ratio in clinical practice could improve cardiovascular risk stratification and facilitate timely interventions, ultimately reducing the burden of cardiovascular disease in diabetic populations.

Hepatitis B and C viral infections and correlates among pregnant women in Ilorin, Nigeria: a cross-sectional study

Background: Hepatitis B and C are significant viral infections in pregnancy with high risk of maternal and neonatal complications. This study was conducted to determine the prevalence of hepatitis B and C viral infections and correlates among pregnant women who attended antenatal care (ANC) unit of General and Civil Service Hospitals, Ilorin, Nigeria. Methodology: This was a descriptive cross-sectional study of 282 consented pregnant women randomly selected from the ANC units of two hospitals in Ilorin. Blood samples were collected from the pregnant women and tested for hepatitis B virus (HBV) surface antigen (HBsAg) and anti-hepatitis C virus (HCV) antibody using Enzyme Linked Immunosorbent Assay (ELISA) technique. Socio-demographic and obstetrics information of the pregnant women and potential risk factors for HBV and HCV infections were collected using a pretested structured questionnaire. Statistical analysis was done using SPSS version 22.0 Results: Majority of the women were married (78.4%), from monogamous families (57.8%), do not share sharp objects (65.6%), have not received blood transfusion (65.3%), have no history of organ transplantation (91.1%), and multigravida (61.4%,) in their first (36.9%), second (37.2%) and third (25.9%) trimesters of pregnancy. Overall, 22.3% and 1.4% tested positive for HBsAg and anti-HCV respectively. Family background of the study participants showed significant (p˂0.05) association with HBsAg positivity. None of the other analysed variables showed any significant association with both HBsAg and anti-HCV positivity. Conclusion: This result showed high prevalence of HBV but low prevalence of HCV infections among pregnant women in the study setting. Improved surveillance and routine screening for HBV and HCV for women attending ANC is recommended to reduce disease burden and help achieve WHO goal of eliminating viral hepatitis as a major public health threat by 2030.

COVID-19 detection from exhaled breath

The SARS-CoV-2 coronavirus emerged in 2019 causing a COVID-19 pandemic that resulted in 7 million deaths out of 770 million reported cases over the next 4 years. The global health emergency called for unprecedented efforts to monitor and reduce the rate of infection, pushing the study of new diagnostic methods. In this paper, we introduce a cheap, fast, and non-invasive COVID-19 detection system, which exploits only exhaled breath. Specifically, provided an air sample, the mass spectra in the 10–351 mass-to-charge range are measured using an original micro and nano-sampling device coupled with a high-precision spectrometer; then, the raw spectra are processed by custom software algorithms; the clean and augmented data are eventually classified using state-of-the-art machine-learning algorithms. An uncontrolled clinical trial was conducted between 2021 and 2022 on 302 subjects who were concerned about being infected, either due to exhibiting symptoms or having recently recovered from illness. Despite the simplicity of use, our system showed a performance comparable to the traditional polymerase-chain-reaction and antigen testing in identifying cases of COVID-19 (that is, 95% accuracy, 94% recall, 96% specificity, and 92% \\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$F_1$$\\end{document}-score). In light of these outcomes, we think that the proposed system holds the potential for substantial contributions to routine screenings and expedited responses during future epidemics, as it yields results comparable to state-of-the-art methods, providing them in a more rapid and less invasive manner.

12393 Myxedema Presenting With Impending Cardiac Tamponade : A Case Report

Abstract Disclosure: A. Hoskote: None. V. Gupta: None. J. Seidenberg: None. The widespread availability of thyroid stimulating hormone (TSH) assays, routine screening and affordable replacement therapy has resulted in decreased prevalence of complications of untreated hypothyroidism. “Myxedema heart” is a rare syndrome that results in bradycardia, cardiomyopathy and pericardial effusion. We present a rare case of cardiac tamponade due to myxedema in a patient with unidentified hypothyroidism. A 49-year-old male was brought to the ER by his family for several weeks of cognitive slowing, weakness and inappropriate behavior involving defecating on himself eating old food and barricading in his room. The patient denied past medical or psychiatric history, medication use or recent physician evaluation. On exam he had macroglossia, was disheveled, forgetful but alert with slow speech, ataxia and muscle wasting. He was afebrile and hemodynamically stable. EKG showed sinus bradycardia. Labs were notable for sodium 133, hemoglobin 8.8g/dL and TSH was incidentally &amp;gt;100U. Levothyroxine was begun. The next day, he was noted to have increased lethargy, bradycardia and hypoglycemia and was transferred to the intensive care unit with concern for myxedema coma. Free T4 was &amp;lt;0.3 ng/dL (0.6-1.6) and free T3 was 1.6pg/mL (2.5-3.9). An echocardiogram revealed a large circumferential pericardial effusion with right atrial and ventricular collapse with tamponade. Treatment with 5 mcg liothyronine, intravenous levothyroxine and stress dose hydrocortisone was begun. A pericardial drain was placed, draining 980mL of sanguineous fluid. After clamping trials, the drain was removed 48 hours later. Labs revealed thyroglobulin &amp;lt;0.1ng/mL (1.6-50), thyroid peroxidase (TPO) antibody 574 IU/mL (&amp;lt;9), thyroglobulin antibody &amp;gt;2500 (&amp;lt;4) and thyroid ultrasound showed a normal sized thyroid gland with heterogenous echogenicity confirming a diagnosis of Hashimoto’s thyroiditis. Serial echocardiograms during the admission and a follow-up two months later showed a stable posterior effusion with no recurrence of the anterior pericardial effusion. Gradually mentation, hemodynamics and electrolyte derangements improved, and he was discharged on oral levothyroxine. TSH values showed sequential improvement to 48U in 15 days and to 11U in 2 months. Myxedema is a manifestation of severe hypothyroidism. The pericardium, a collagen-rich structure, is susceptible to myxedematous infiltration, leading to pericardial effusion. While small pericardial effusions are common with chronic hypothyroidism, a large pericardial effusion with tamponade is a rare life-threatening complication that requires prompt recognition and management. Clinicians must promptly identify myxedema and replace thyroid hormone to prevent progression of pericardial effusion to tamponade, maintaining especially high suspicion in those at risk of poor access to healthcare or inadequate health literacy. Presentation: 6/3/2024

12376 Comparison Of 1 Mg Versus 2 Mg Dexamethasone Suppression In Obesity

Abstract Disclosure: H. Babu: None. A. Nawaz: None. A.J. Spiro: None. T.D. Hoang: None. M.K. Shakir: None. The overnight 1 mg dexamethasone suppression test (DST) is widely used to screen for Cushing’s Syndrome (CS), especially due to its low incidence of false negative results. Serum cortisol concentrations &amp;lt;1.8 µg/dL suggests adequate HPA axis suppression and usually excludes CS. Concentrations &amp;gt;1.8 µg/dL should be verified with a second test. However, the lack of suppression on DST has been documented previously in 1.46% to 15% of obese patients without CS. Previous studies have suggested simultaneous measurements of serum cortisol, ACTH, and dexamethasone levels after DST to ensure adequate suppression. In this retrospective analysis, we compared the plasma levels of ACTH, dexamethasone, and cortisol levels after 1 mg and 2 mg DST in healthy obese (class III) subjects. The study involved 6 subjects (2 males, 4 females, age 37.5 ± 8.79 years, BMI 43.65 ± 3.12 (kg/m2) who were referred for evaluation of abnormal weight gain. Exclusion criteria for these subjects included diabetes mellitus, pregnancy, history of CS, psychiatric disorders, chronic liver disease, chronic renal failure, malabsorption disorders and nephrotic syndrome. The exclusion of CS was done by history and physical examination showing the lack of specific clinical features of CS. Additionally, none of the subjects were taking drugs that interfered with CYP3A4 or oral contraceptives within 3 months preceding the study. None of the participants reported alcohol consumption of more than 30 g per day. Screening tests for CS involved 1 mg, 2 mg DST, LNSC and 24-hour urine cortisol levels. Results: Following 1 mg DST in 5 subjects, the mean serum cortisol levels were 1.35 ± 0.13 mcg/dL and the mean serum dexamethasone levels, and ACTH levels were 282 ± 44 ng/dL and 5.92 ± 1.56 pg/mL, respectively. However, in one subject (BMI 43.5) the post-DST cortisol level was 2.96 mcg/dL with corresponding dexamethasone level of 138 ng/dL and ACTH level of 21 pg/mL. However, following 2 mg DST in all 6 subjects the serum cortisol levels were less than 1.8 mcg/dL (1.21± 0.22 mcg/dL) with ACTH levels (3.87 ± 0.70 pg/mL) and dexamethasone levels of 482 ± 80 ng/dL. The LNSC levels were normal in 4 subjects (0.010 ± 0.005 mcg/dL), whereas in 2 subjects these were minimally elevated. 24-hour urine cortisol levels were normal in 5 subjects (29.4 ± 3.74 mcg) and in one subject this was mildly elevated (67 mcg). Long term follow-up of all subjects confirmed normal cortisol status. Previous studies have demonstrated that routine CS screening of patients affected by severe obesity is not indicated. However, other investigations have shown CS may occur in a small percentage of severe obese patients. In conclusion, 2 mg DST is a preferred test in obese patients suspected to have CS although 1 mg DST generally can be used as an initial screening test. Additionally, serum dexamethasone and ACTH measurements may still be useful in patients who are suspected to have a false-positive DST. Presentation: 6/1/2024

7812 Community Practice Setting Experience in Evaluation of Incidental Thyroid Nodules

Abstract Disclosure: N. Abate: None. H. Rhodes: None. M. Horlavadi: None. B. Adams-Huet: None. M. Chandalia: Advisory Board Member; Self; Boehringer Ingelheim. Speaker; Self; Boehringer Ingelheim, Eli Lilly &amp; Company, Novo Nordisk. Background: There is a significant increase in detection of incidental thyroid nodules due to increase in routine screening ultrasounds at church, workplace, and health fairs, increase in routine ultrasound in primary care clinics and incidental finding of thyroid nodule during carotid artery ultrasound. These patients are then referred for thyroid nodule fine needle aspiration biopsy. Aim of this study was to evaluate real world data in frequency of thyroid cancer in patients referred for incidental thyroid nodule to a nonacademic Endocrinology clinic utilizing centralized collection of cytology and molecular analysis. Method: Medical records were reviewed for consecutive FNA of incidental thyroid nodule in an Endocrinology clinic in greater Houston from 2021 to 2023. FNA was performed in patients selected based on ACR TI-RADS classification. Patients with Bethesda score of 3 or more had molecular testing with Thyroseq performed. Patients with intermediate or high probability of cancer on Thyroseq as well as Patients with Bethesda 4 and 5 on cytopathology were referred for surgery. Surgical pathology was obtained in patients who underwent surgery. Data was tabulated and analyzed using SAS. Results: A total of 304 subjects, 267 Female and 37 males, age 57 ± 13, nodule size 2.69 ± 1.4 (mean ± SD), had thyroid nodule FNA between 2021 and 2023. Of these FNA, 23 (7.5%) sample collections were insufficient, 233 (77.3%) were benign (Bethesda 2), 46 (15%) were Atypia of undetermined significance or Suspicious for malignancy. Of those subjects with Bethesda 3 or higher, 36 patients had molecular testing by Thyroseq Method. Fifteen patients had intermediate and high risk finding on Thyroseq. Thirty-four subjects had surgery and 8 patients had malignancy on surgical pathology. One patient was identified as Medullary Thyroid cancer on Thyroseq, confirmed by surgery. Frequency of malignancy in incidentally detected thyroid nodule in the whole group was 2.6%, those with Bethesda 3 and more was 17.4% and those with Thyroseq intermediate or high risk was 27%. Conclusion: Availability of centralized cytopathology and reflex molecular testing to Community practice settings helps reducing unnecessary thyroid surgeries in patients with incidental thyroid nodules. Presentation: 6/1/2024

8676 Hereditary Fructose Intolerance Unmasked: Report of a Pediatric Case Exploring Differential Diagnosis of Hypoglycemia and Genetic Insights

Abstract Disclosure: N. Solano: None. D. Baboun: None. A. Granados: None. A. Carrillo-Iregui: None. Introduction: Hereditary fructose intolerance (HFI) is an uncommon autosomal recessive metabolic disorder characterized by a deficiency of aldolase B, a crucial enzyme involved in fructose metabolism. This deficiency causes an accumulation of fructose-1-phosphate, which triggers a cascade of metabolic disturbances including hypoglycemia, lactic acidosis, and hepatic dysfunction. If left untreated, HFI can lead to severe complications, including liver failure and even death. Diagnosing HFI can be challenging due to its nonspecific clinical presentation and the absence of routine screening tests. Case presentation: A 4-year-old girl was referred from an outside hospital for hypoglycemia requiring intravenous dextrose infusion. The patient became lethargic 30 minutes after consuming a honey-based cough syrup. Upon presentation to the emergency department, her blood glucose level was 41 mg/dL. Her past medical history revealed an episode of lethargy and persistent vomiting at age 21 months, coinciding with an intussusception. A finger blood glucose test at the time was undetectable, and further evaluation revealed metabolic acidosis, elevated liver enzymes, and a normal ammonia level. Plasma amino acid, acylcarnitine, carnitine, urine acylglycine, carnitine, and urine organic acid levels were all within normal limits. Fatty acid oxidation and glycogen storage disease panels were also negative. On inquiry into her dietary habits, her parents recalled she would spit fruits out whenever tasting them, suggesting an innate aversion to fructose-rich foods. Initial comprehensive inpatient workup, including a critical sample, yielded no definitive results. She underwent a strict 24-hour inpatient fast and remained asymptomatic, with blood glucose levels above 65 mg/dL, ruling out hyperinsulinism. A broader next-generation sequencing (NGS) hypoglycemia panel was ordered, which identified a heterozygous pathogenic variant, c.178C&amp;gt;T (p.Arg60*) maternally inherited, and a likely pathogenic variant, c.379+1G&amp;gt;T (Splice donor) paternally inherited, in the aldolase B gene. Both confirmed the diagnosis of hereditary fructose intolerance (HFI). The family received comprehensive dietary and genetic counseling. Conclusion: HFI is an uncommon but potentially life-threatening inborn error of metabolism. Maintaining a high index of suspicion, considering a broad differential diagnosis, and obtaining a detailed dietary history, including fruit consumption, are crucial for identifying and managing HFI in infants and children with unexplained hypoglycemia. This case highlights the importance of early diagnosis and dietary intervention to prevent severe complications in patients with HFI. Additionally, it emphasizes the need for comprehensive dietary counseling and education for patients' families to ensure lifelong adherence to a fructose-restricted diet. Presentation: 6/2/2024

7982 Is there a Connection between Alpha Thalassemia and Thyroid Disorders

Abstract Disclosure: W. Akhter: None. V. Taqi: None. J.L. Gilden: None. IntroductionA number of case reports suggest an association between thalassemia and autoimmune diseases through specific mutations and molecular pathways. An example is thyroid disease in thalassemia patients. Due to factors such as age, ethnicity and treatment protocol differences, the frequency of hypothyroidism in thalassemia patients is a wide range of 4 to 29% based on free T4 and TSH levels. Subclinical hypothyroidism is more common in thalassemia patients as compared to overt hypothyroidism. 90% of morbidity and mortality in B-Thalassemia patients is attributed to iron overload, anemia and hypoxia. Understanding this possible mechanism helps guide treatment and monitoring. Case PresentationWe present the case of a 26-year-old African American with Haitian ethnicity female, who upon routine testing was found to have a very high TSH level of 79.084 uIU/ml (nl=0.550-4.780 uIU/ml) for which 125 mcg of Levothyroxine was started, and then she was referred to the endocrine clinic. Past history was notable for sickle cell trait and alpha thalassemia trait. Patient stated that at age 12, she developed fatigue and low energy and was found to have hyperthyroidism which was treated with RAI ablation. After that, no follow up or lab tests were done until recently. The patient denied symptoms of hypo or hyperthyroidism or enlargement of the thyroid gland. She denied any family history of thyroid disorders. After presenting to the endocrine clinic a few days later, she was diagnosed with postprocedural hypothyroidism and the same dose of levothyroxine was continued. Physical exam was unremarkable and no thyromegaly was appreciated on exam. Labs were notable for decreased Hemoglobin of 11.4 g/dL (nl=12-16 g/dL) and CMP was unremarkable except low glucose of 65 mg/dL (nl=70-99 mg/dL). The patient’s most recent labs after 8 weeks of taking Levothyroxine were notable for TSH of 14.65 uIU/ml (nl=0.550-4.780 uIU/ml) and free T4 of 1 ng/dL (nl= 0.89-1.76 ng/dL) and the patient admitted to having still no thyroid symptoms and a little more energy. ConclusionEndocrinopathies are common complications of thalassemia with hypothyroidism being the second most common endocrine disorder in thalassemia patients after hypogonadism, reported in 5.6-17% of patients. In thalassemia patients, endocrine disorders have to be managed as early as possible. Therefore, it is recommended that an endocrine evaluation be carried out in thalassemia patients at a young age.Monitoring for glucose homeostasis, hypothyroidism and hypoparathyroidism is also warranted. Physicians caring for thalassemia patients should perform routine screening for and treat thyroid dysfunction appropriately. Reference: De Sanctis V, Soliman AT, Canatan, et al.. Thyroid Disorders in Homozygous β-Thalassemia: Mediterr J Hematol Infect Dis. 2019 May 1;11(1):e2019029. doi: 10.4084/MJHID.2019.029. PMID: 31205633; PMCID: PMC6548211. Presentation: 6/2/2024

Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability.

Untargeted metabolomics has shown promise in expanding screening and diagnostic capabilities for inborn errors of metabolism (IEMs). However, inter-batch variability remains a major barrier to its implementation in the clinical laboratory, despite attempts to address this through normalization techniques. We have developed a sustainable, matrix-matched reference material (RM) using the iterative batch averaging method (IBAT) to correct inter-batch variability in liquid chromatography-high-resolution mass spectrometry-based untargeted metabolomics for IEM screening. The RM was created using pooled batches of remnant plasma specimens. The batch size, number of batch iterations per RM, and stability compared to a conventional pool of specimens were determined. The effectiveness of the RM for correcting inter-batch variability in routine screening was evaluated using plasma collected from a cohort of phenylketonuria (PKU) patients. The RM exhibited lower metabolite variability between iterations over time compared to metabolites from individual batches or individual specimens used for its creation. In addition, the mean variation across amino acid (n = 19) concentrations over 12 weeks was lower for the RM (CVtotal = 8.8%; range 4.7%-25.3%) compared to the specimen pool (CVtotal = 24.6%; range 9.0%-108.3%). When utilized in IEM screening, RM normalization minimized unwanted inter-batch variation and enabled the correct classification of 30 PKU patients analyzed 1 month apart from 146 non-PKU controls. Our RM minimizes inter-batch variability in untargeted metabolomics and demonstrated its potential for routine IEM screening in a cohort of PKU patients. It provides a practical and sustainable solution for data normalization in untargeted metabolomics for clinical laboratories.