Nationwide Screening Research Articles

Cardiovascular Risk across Glycemic Categories: Insights from a Nationwide Screening in Mongolia, 2022–2023

(1) Background: Diabetes mellitus is a significant risk factor for cardiovascular disease (CVD), a leading cause of death globally. Recent studies have highlighted the role of pre-diabetes, particularly impaired fasting glucose (IFG), in elevating CVD risk even before the onset of diabetes. The objective of this study was to assess cardiovascular disease (CVD) risk across specific glycemic categories, including normoglycemia, impaired fasting glucose (IFG), newly diagnosed diabetes, and long-standing diabetes, in a large Mongolian population sample. (2) Methods: This cross-sectional study utilized data from a nationwide health screening program in Mongolia between 2022 and 2023, involving 120,266 adults after applying inclusion criteria. The participants were categorized based on fasting plasma glucose levels (NGT): normoglycemia, IFG, newly diagnosed diabetes, and long-standing diabetes. CVD risk was assessed using WHO risk prediction charts, considering factors like age, blood pressure, smoking status, and diabetes status. (3) Results: CVD risk varied significantly with glycemic status. Among those with NGT, 62.9% were at low risk, while 31.2% were at moderate risk. In contrast, the IFG participants had 49.5% at low risk and 39.9% at moderate risk. Newly diagnosed diabetes showed 38.1% at low risk and 43.3% at moderate risk, while long-standing diabetes had 33.7% at low risk and 45.9% at moderate risk. Regression analysis indicated that glycemic status was independently associated with moderate to high CVD risk (OR in IFG: 1.13; 95% CI: 1.09–1.18), even after adjusting for age, gender, and central obesity. (4) Conclusions: This study emphasizes the need for early cardiovascular risk assessment and intervention, even in pre-diabetic stages like IFG.

Evaluation of long-term benefits and cost-effectiveness of nation-wide colorectal cancer screening strategies in China in 2020–2060: a modelling analysis

Evidence on the long-term benefits and cost-effectiveness of colorectal cancer (CRC) screening strategies in China remains limited. This modelling study aims to address this issue for various CRC screening strategies in China between 2020 and2060. Using a previously developed microsimulation model (MIMIC-CRC) with Chinese epidemiological data, we evaluated four CRC screening strategies targeting population aged 45-74 years: no screening, colonoscopy every 10years, biennial faecal immunochemical testing (FIT), and a roll-out FIT screening strategy. Screening coverage (invitation) rates from 5% to 100% were analysed. Single-cohort analysis of 100,000 individuals was conducted to estimate the relative cost-effectiveness of each strategy. A multiple-cohort analysis of 100,000 people aged 40+ over 2020-2060 was conducted to project nation-wide long-term benefits and cost-effectiveness. In single-cohort analysis, all strategies yielded reductions in CRC incidence and mortality compared to no screening, with colonoscopy outperforming FIT-based strategies at the same invitation rates. In multiple-cohort analysis, among people over 40 years of age in China over 2020-2060, compared to no screening, at invitation rate of 5%, screening by colonoscopy, biennial FIT and roll-out FIT-based approach were estimated to avert 1.2, 0.4, and 0.3 million incident CRCs and 0.2, 0.1, and 0.1 million CRC-related deaths, respectively, compared to no screening (25.4 million incident CRCs and 4.4 million CRC-related deaths), and this preventive effect enlarged as the screening coverage rate increased. At full coverage, colonoscopy achieved the largest reductions (38.2% lower incidence and 43.2% lower mortality) but required the most resources. Biennial FIT and roll-out FIT-based approach screening was slightly less effective but had significant reduced colonoscopy needs (reduction of 83.8% and 85.2%, respectively) and overall cost (reduction of 23.4% and 37.8%, respectively) compared to colonoscopy screening. Nation-wide implementation of screening would be effective in reducing the burden of CRC in China. Biennial FIT and roll-out FIT-based screening strategies could prevent incident CRC cases and CRC-related deaths with considerably fewer resources than colonoscopy screening. Efforts should be made to increase the screening coverage in China. Chinese Academy of Medical Science Innovation Fund for Medical Science (2022-I2M-1-0031); National Natural Science Foundation of China (82173606; 82273726); Beijing Nova Program of Science and Technology (20230484397).

An assessment of the vision-related quality of life among adult patients with diabetes mellitus in Accra, Ghana

PurposeTo assess the overall vision-related quality of life (VRQoL) of adults with diabetes mellitus attending selected diabetic and eye care facilities in Accra, Ghana. MethodsThis was a hospital-based analytical cross-sectional study which took place from January to July 2023. A purposive consecutive sampling technique was used to select 150 participants. A questionnaire consisting of the WHO-PBD/VF20 and EuroQol Five Dimensional Scale instruments was used to obtain information pertaining to the demographic characteristics, vision-related quality of life and health-related quality of life of selected participants. ResultsThe median participant age was 61.0 years. Participants with diabetic retinopathy had a worse mean overall total VRQoL score (19.4) than those without (79.9) in all domains; general visual functioning, 41.3 vs. 78.7, p = 0.002; general functioning, 15.1 vs. 80.2, p = 0.001; psychosocial, 35.7 vs. 79.3, p = 0.001; and visual symptoms, 24.4 vs. 80.4, p = 0.001. Participants with diabetic retinopathy also had a worse mean overall HRQoL score (17.4) than those without (81.0) in all domains; mobility, 32.4 vs. 79.6, p = 0.001; self-care, 53.9 vs. 77.6, p = 0.001; usual activities, 30.2 vs. 79.8, p = 0.001; pain/discomfort, 36.3 vs. 79.2, p = 0.001; and anxiety, 31.5 vs. 79.7, p = 0.001. ConclusionOur findings suggest a significant deterioration in both vision-related and health-related quality of life with the development of diabetic retinopathy. They highlight the need for nationwide screening programs to identify people with diabetes mellitus, as well as effective glycemic control to prevent the development of complications such as diabetic retinopathy.

Differential Outcomes in Colorectal Cancer Detection: A Comparative Study of Swedish Nationwide Screening and Fast-Track Diagnostic Pathways.

In 2021, a nation-wide screening program for colorectal cancer (CRC) was step-wise implemented in Region Örebro County (RÖC) for patients aged 60 to 74 years, utilizing the fecal immunochemical test (FIT) to refer patients for colonoscopy. Concurrently, the standardized care course for colorectal cancer (SCC-CRC), initiated in 2016, employs a fast-track pathway for patients with alarm symptoms to undergo colonoscopy. This study compares CRC screening colonoscopies with SCC-CRC colonoscopies in RÖC among patients aged 60 to 67 years. An initial analysis of the Swedish colorectal screening cohort was combined with a retrospective cohort study, analyzing data from 307 CRC screening patients and 441 age-matched SCC-CRC patients in RÖC. Data included demographics, colonoscopy participation rates, and pathology findings. Statistical analyses compared outcomes between the 2 groups. Among the screening group, 2% tested positive for FIT, with an 86% colonoscopy participation rate (N=9296). In RÖC, 266 screening patients underwent colonoscopy, with 10% diagnosed with CRC, compared with 20% in the SCC-CRC group. In addition, 39% of the screening group in RÖC were diagnosed with advanced adenomas, versus 15% in the SCC-CRC group. Screening participation was high, with effectiveness aligning with international counterparts. The SCC-CRC pathway excels in diagnosing CRC among symptomatic patients, while the nationwide screening program is effective in early detection of CRC and advanced adenomas. underscoring the importance of integrating and optimizing both approaches within the Swedish health care system to optimize CRC prevention and management.

P024 NEPAL TAKES ACTION FOR BLOOD PRESSURE SCREENING: RESULTS FROM MAY MEASURE MONTH 2022

Objective: To present the result of May Measure Month (MMM) 2022 in Nepal. Methods: An opportunistic cross-sectional survey of adults ≥ 18 years was conducted in 32 districts from Jun-October 2022. Trained volunteers administered the structured questionnaire into the local language and took 3 BP readings in a sitting position at 1-minute intervals. The mean of the second and third BP readings was calculated. Hypertension was defined as a systolic BP ≥ 140 mmHg or a diastolic BP ≥90 mmHg or being on antihypertensive medication. Ethical approval was obtained from the Nepal Health Research Council. Results: MMM 2022 included 13,125 participants. The mean age of the participants was 38.8(±16.1) years. There were 52.2% females. The mean was 118.6 mmHg ±15.8 for systolic BP, and 78.8 mmHg ±10.67 for diastolic BP. Around one-fifth (19.5%) of participants were found to be hypertensive. The odds of hypertension in young males were 1.49 times than females (OR=1.49, 95% CI: 1.37 to 1.63). Only about 43.5% of the population were aware, 37.5% were on medication and only 21.5% of hypertensive had controlled blood pressure (< 140/90 mm Hg). Less males were aware and on medication as compared to females (OR = 0.86, 95% CI: 0.74 -1.01). 26.3% hypertensive females have controlled blood pressure as compared to 17.7% in males (p<0.05). Among all participants, 11.3% (n= 1473) had their BP measured for the first time, and nearly 22.6% (n= 2953) did not measure it within the last one year. More than 90% of individuals taking medicine reported that they took medicine regularly and more than 80% reported that they did not pay for medicine. Conclusions: MMM seems to be a promising community-based program for increasing awareness and identifying high risk population. As more than 50% of participants were unaware of their hypertension status, there is an opportunity in Nepal to identify these patients and increase awareness by adopting nationwide screening campaign such as MMM.

Follow-up and monitoring programme in children identified in early-stage type 1 diabetes during screening in the general population of Italy.

To provide guidance for follow-up and monitoring of children and adolescents identified as positive to islet autoantibodies (IA) in the general population screening for type 1 diabetes (T1D) in Italy. Detection of IA helps to diagnose pre-symptomatic T1D, prevent diabetic ketoacidosis (DKA) and identify persons for new therapies to delay symptomatic diabetes. Italy recently became the first country to approve by law a general autoantibody screening program for T1D and celiac disease in all children and adolescents (age 1-17yr). A pilot study is currently underway in four Italian regions addressing feasibility issues to be used in the scale up to nationwide screening. Meanwhile, a group of experts developed guidance recommendations for follow-up and monitoring of identified IA positive persons. Ten key components have been identified: establishment of a registry for children and adolescents at risk; close collaboration with the national network of family paediatricians; creation of T1D centers with expertise in follow-up and monitoring; educational measures; assurance of solid IA tests; identification of appropriate metabolic tests; feed-back feasibility and acceptability questionnaires; potential access to available therapeutic interventions; valuable outcome measures including DKA incidence; costs monitoring. Distinctive features of this program include single (in addition to multiple) IA antibody-positive persons in follow-up and the use of CGM to assess risk progression, rather than the cumbersome OGTT. It is expected that the proposed follow-up and monitoring program will be effective, affordable and acceptable to children and families identified in general T1D screening in Italy.

The longitudinal growth trajectory of children with congenital hypothyroidism during the first 3years of life.

This research emphasizes the complexity of managing CH and stresses the importance of tailoring interventions based on individualized characteristics and the ongoing growth patterns of the children. Future research is required to understand the intricate relationships between growth patterns and various determinants and optimize the growth and developmental outcomes of children with CH. • Iran has a higher prevalence of congenital hypothyroidism (CH) with a nationwide screening program. • There are concerns about delayed growth in CH children, but limited research on long-term patterns and contributing factors. • Distinct patterns in weight, height, and head circumference among children with CH were identified. • Factors such as consanguinity, parental hypothyroidism, and TSH levels impact growth outcomes. • CH management is complicated, and there is a need for individualized interventions.

Impact of Bowel Preparation Quality on Colonoscopy Findings and Colorectal Cancer Deaths in a Nation-Wide Colorectal Cancer Screening Program.

Adequate bowel preparation is paramount for a high-quality screening colonoscopy. Despite the importance of adequate bowel preparation, there is a lack of large studies that associated the degree of bowel preparation with long-term colorectal cancer outcomes in screening patients. In a large population-based screening program database in Austria, quality of bowel preparation was estimated according to the Aronchick Scale by the endoscopist (excellent, good, fair, poor, and inadequate bowel preparation). We used logistic regression to assess the influence of bowel preparation on the detection of different polyp types and the interphysician variation in bowel preparation scoring. Time-to-event analyses were performed to investigate the association of bowel preparation with postcolonoscopy colorectal cancer (PCCRC) death. A total of 335,466 colonoscopies between January 2012 and follow-up until December 2022 were eligible for the analyses. As compared with excellent bowel preparation, adenoma detection was not significantly lower for good bowel preparation (odds ratio 1.01, 95% confidence interval [CI] 0.9971-1.0329, P = 0.1023); however, adenoma detection was significantly lower in fair bowel preparation (odds ratio 0.97, 95% CI 0.9408-0.9939, P = 0.0166). Individuals who had fair or lower bowel preparation at screening colonoscopy had significantly higher hazards for PCCRC death (hazard ratio for fair bowel preparation 2.56, 95% CI 1.67-3.94, P < 0.001). Fair bowel preparation on the Aronchick Scale was not only associated with a lower adenoma detection probability but also with increased risk of PCCRC death. Efforts should be made to increase bowel cleansing above fair scores.

Feasibility of novel points-based health questionnaire utilised in a nationwide cardiac screening programme for young individuals

Feasibility of novel points-based health questionnaire utilised in a nationwide cardiac screening programme for young individuals

May Measurement Month 2021: an analysis of blood pressure screening results from Bangladesh.

Previous studies have shown that among Bangladeshi adults, one-fifth have hypertension. The National Heart Foundation of Bangladesh participated in May Measurement Month (MMM) campaigns in 2017, 2018, 2019, as well as in 2021 as a part of a global initiative aimed at raising awareness of high blood pressure (BP) and to act as a temporary solution to the lack of nationwide screening programmes. This opportunistic screening of voluntary participants aged ≥18 years was carried out from May to July 2021. Data were collected from more than 150 screening sites in all 64 districts in Bangladesh. Blood pressure measurement, the definition of hypertension, and statistical analysis followed the MMM protocol. Data on 28 355 individuals were finally analysed. Among the participants, 17 941 (63.3%) were female. After multiple imputation, 11 194 (39.5%) had hypertension. Among the 11 194 participants with hypertension, 78.8% were aware of having hypertension and 65.6% were on antihypertensive medication. Among 11 194 participants with hypertension, 7340 participants (65.6%) were on antihypertensive medication and 43.8% had controlled BP (<140/90 mmHg). Of those on antihypertensive medication, 66.8% had controlled BP. A voluntary BP screening programme can identify significant numbers of people with raised BP and thus contributes importantly to the prevention of cardiovascular diseases.

Diabetes burden among young Indians below the age of 35 years: A retrospective analysis of nationwide screening campaign

Diabetes burden among young Indians below the age of 35 years: A retrospective analysis of nationwide screening campaign

Abstract PO1-13-02: Circulating tumor DNA mutation landscape in HR+/HER2− patients with mBC treated with cyclin-dependent kinase 4/6 inhibitors in the SCRUM-Japan MONSTAR-SCREEN study

Abstract Introduction: Combination of cyclin-dependent kinase 4 and 6 inhibitors (CDK 4/6i) + endocrine therapy (ET) is recommended as first- or second-line treatment (1L or 2L Tx) for hormone receptor-positive, human epidermal growth factor receptor-2-negative metastatic breast cancer (HR+/HER2− mBC). In this study, we assessed cancer-specific genetic alterations in circulating tumor DNA (ctDNA) and tissues in abemaciclib-treated patients with HR+/HER2− mBC in Japan. Methods: MONSTAR-SCREEN is a multicenter study and part of a nation-wide cancer genome screening project for patients with advanced solid tumors (SCRUM Japan). Regardless of the Tx line, the current analysis included abemaciclib-treated patients with HR+/HER2− mBC (N=97). Data were collected between Jan 2020 and Dec 2021. Blood samples collected at ≤21 days before abemaciclib initiation (baseline; n=77) and at disease progression or Tx discontinuation (paired post-Tx; n=33) were tested with the FoundationOne® Liquid Companion Diagnostic panel. Additionally, archival or fresh tissue biopsy samples (n=79) were tested with the FoundationOne® Companion Diagnostic panel. Patient characteristics, baseline genetic alterations, neoplastic burden (measured by shedding rate and maximum variant allele frequency [VAF]), and alterations at clinical progression were reported. Results: The total population (N=97) included patients with next generation sequencing ctDNA and/or tissue data. All were female with median age of 57 years (interquartile range 50, 67). Bone, either alone or with other sites, was the most common metastatic site (61%). 78% of patients received abemaciclib in the first or second line of Tx (LoT). Fulvestrant with or without gonadotropin-releasing hormone (55%), letrozole (24%), and anastrozole (11%) were the most common concomitant drugs. Among patients with baseline ctDNA data (n=77), 30% and 21% had received prior ET and prior chemotherapy, respectively. In baseline ctDNA samples, PIK3CA (37%) and TP53 (28%) alterations were detected most frequently across all LoT; while ESR1 (16%), GATA3 (11%), and FGF3/4/19 (9%) were more frequently detected in samples from later LoT. The frequency of ESR1 alterations (p&amp;lt; 0.01), shedding rate, and maximum VAF (both p&amp;lt; 0.05) were significantly higher in prior ET recipients than those who did not receive prior ET. Frequency of post-Tx ESR1 alterations numerically decreased from baseline in patients on fulvestrant (23% to 18%) and numerically increased in patients on aromatase inhibitors (27% to 45%). Other genes showed either a numeric increase or similar alteration frequency between the baseline and post-tx. Newly acquired post-Tx alterations were detected in FGF3/4/19 (18%); PIK3CA, TP53, and RB1 (all 15%) and ESR1 (12%). The table shows PIK3CA and ESR1 alterations detected at baseline and post-Tx. In the tissue samples (n=79), TP53 (32% vs 20%) and ESR1 (14% vs 7%) alterations were numerically more frequent in metastatic versus primary lesions. Other gene alteration frequencies were similar. Conclusion: PIK3CA alterations were the most frequently detected genetic alterations in both pre- and post- abemaciclib Tx patients with HR+/HER2− mBC. Patients with prior ET had more frequent ESR1 alterations and higher neoplastic burden. Evidence from this study provides insight into the ctDNA dynamics and potential resistance mechanisms in patients with HR+/HER2− mBC. PIK3CA and ESR1 alterations detected in circulating tumor DNA at baseline and post abemaciclib treatment Citation Format: Masaya Hattori, Victoria Serelli-Lee, Yoichi Naito, Takashi Yamanaka, Hiroyuki Yasojima, Rikiya Nakamura, Takao Fujisawa, Mitsuho Imai, Yoshiaki Nakamura, Hideaki Bando, Tsutomu Kawaguchi, Takayuki Yoshino, Hiroji Iwata. Circulating tumor DNA mutation landscape in HR+/HER2− patients with mBC treated with cyclin-dependent kinase 4/6 inhibitors in the SCRUM-Japan MONSTAR-SCREEN study [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-13-02.

Abstract PO5-08-10: Breast cancer risk prediction performance of polygenic risk score in Taiwanese female with dense breast: A nested case-control study

Abstract Introduction: Breast cancer is the most common cancer among women in Taiwan and the incidence rate of breast cancer has been increasing steadily over the past 30 years. To address this, a nationwide screening program with biennial mammography for women aged 40-69 was implemented in 2004, which has contributed to a significant reduction in breast cancer mortality. Asian women are more likely to have dense breast tissue, and studies have shown a correlation between breast density and the risk of developing breast cancer, with higher breast density values associated with increased risk. Polygenic risk scores (PRS) are calculated based on an individual's genetic information and can estimate their risk of developing a particular disease. Although PRS can identify low-penetrance risk variants, its use in breast cancer risk estimation is typically limited to gene-only models, and integration with breast cancer screening databases is rare. Hence, the aim of this specific study was to evaluate the predictive capacity of PRS in women with dense breast tissue by exploring potential genetic markers and constructing a PRS to investigate the genetic factors associated with clinical characteristics and the risk of developing breast cancer. Methods: The PRS was developed using genetic information from the Taiwan Precision Medicine Initiative genotyping data. A total of 6335 patients were enrolled, and 101 single nucleotide polymorphisms (SNPs) were selected as candidate markers based on the PGS Catalog (PGS000001). Clinical characteristics of the study cohort were summarised using median and range, or frequency and percentage. The distribution of characteristics between breast cancer and controls was estimated using an independent two-sample t-test, chi-square, and Fisher’s exact test. The association of the PRS and related characteristics with breast cancer risk in the study cohort was estimated using univariate and multivariate binomial logistic regression. Harrel’s C-index was reported to demonstrate the predictive performance of PRS in both univariate and multivariate models. All p-values were two-sided, and a p less than .05 is considered statistically significant. All analyses were performed using R 4.1.2 (R core team, 2023) Results: The results showed that breast cancer patients constituted a higher proportion of individuals in PRS Q4 (37.8% vs 24.8% in controls). The model's predictive performance for breast cancer risk increased from 0.565 (95% CI = 0.520-0.611) to 0.699 (95% CI = 0.644-0.755) by adding related clinical characteristics compared to the PRS-only model. Patients characterized with benign breast disease (OR = 0.50, 95% CI = 0.31-0.79, P = 0.004) showed a decreased breast cancer risk, and patients with mastalgia or palpable breast lesion (OR = 6.87, 95% CI = 4.29-10.8, P &amp;lt; 0.001) predicted significant greater breast cancer risk. Subgroup analysis of patients without breast symptoms was conducted as they may be overlooked or underestimated for breast cancer screening. For dense breast patients without symptoms, the high PRS group (Q4) consistently showed a significantly elevated breast cancer risk compared to the low PRS group (Q1-Q3) in both univariate (OR = 2.25, 95% CI = 1.43-3.50, P &amp;lt; 0.001) and multivariate analyses (OR = 2.22, 95% CI = 1.41-3.46, P &amp;lt; 0.001). Conclusion: Breast cancer screening has undergone a shift from a general approach to a personalized, risk-based approach. Besides breast cancer screening using family history as the only risk factor, our proposed model identifies both genetic and clinical risk factors using big data analyses including the EHR, cancer screening, and registry from a single institute. The study suggests that integrating PRS into personalized screening strategies could improve risk prediction for Taiwanese females with dense breasts without prominent symptoms. Table 1. Clinical characteristics of study cohort (n=6335). Table 2. Association of the PRS quartiles in breast cancer risk. Table 3. Predictive performance of PRS for breast cancer risk. Citation Format: Chih Yean Lum, Chih Chiang Hung, Chi-Cheng Huang, Tzu-Hung Hsiao, Sin-Hua Moi. Breast cancer risk prediction performance of polygenic risk score in Taiwanese female with dense breast: A nested case-control study [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO5-08-10.

Exploring gender disparities in glycemic levels of the maldivian population: An analysis of data from a nation-wide diabetes screening program

Exploring gender disparities in glycemic levels of the maldivian population: An analysis of data from a nation-wide diabetes screening program

Evaluation of the “Burgenland PREvention trial of colorectal cancer Disease with ImmunologiCal Testing” (B-PREDICT)—a population-based colorectal cancer screening program

BackgroundThe colorectal cancer (CRC) screening program B-PREDICT is a population based invited two stage screening project using a faecal immunochemical test (FIT) for initial screening followed by a colonoscopy for those with a positive FIT. B-PREDICT was compared with the opportunistic screening colonoscopy (OPP-COL), performed in course of the nationwide screening program.MethodsWithin B-PREDICT all residents of the Austrian federal state Burgenland, aged between 40 and 80 are annually invited to FIT testing. All individuals who underwent initial colonoscopy in Burgenland between 01/2003 and 12/2014, were included in this study. Individuals from the FIT-triggered invited screening program B-PREDICT were compared with those from the non-FIT triggered OPP-COL.Results15 133 individuals from B-PREDICT were compared to 10 045 individuals with OPP-COL. CRC detection rates were 1.34% (CI-95%, [1.15; 1.52]) in B-PREDICT compared to 0.54% in OPP-COL (95%-CI, [0.39; 0.68] p < 0.001). The decrease in the age standardized incidence rates of CRC was more pronounced in the population screened with FIT than in the general population screened with colonoscopy. Changes in incidence rates per year were -4.4% (95%-CI, [-5.1; -3.7]) vs. -1.8% (95%-CI, [-1.9; -1.6] p < 0.001).ConclusionsB-PREDICT shows a two-fold higher detection rate of CRC as well as HRA compared to OPP-COL.

Nationwide Screening Practices for Tamoxifen Retinal Toxicity in South Korea: A Population-Based Cohort Study.

(1) Background/Objectives: To investigate the nationwide screening practices and trends in tamoxifen retinal toxicity (tamoxifen retinopathy) in South Korea using national health insurance claims data. (2) Methods: A total of 43,848 patients who started tamoxifen therapy between 2015 and 2020 and had no prior ophthalmic diseases or other conditions requiring screening for retinopathy were included. The annual numbers of tamoxifen users and new initiators of tamoxifen therapy were assessed. The screening examinations were separated into baseline (first ophthalmic examination after tamoxifen administration) and subsequent monitoring examinations. The timing and modalities for the baseline and subsequent monitoring examinations performed between 2015 and 2021 were assessed in tamoxifen users. (3) Results: The annual number of tamoxifen users increased over the study period from 54,056 in 2015 to 81,720 in 2021. The number of patients who underwent ophthalmic examination after tamoxifen administration was 8961 (20.4%). Baseline screening was performed in 6.5% of patients within 1 year of use, and subsequent monitoring was performed in 27.8% of patients who underwent baseline screening. Funduscopy or fundus photography was performed most commonly for baseline screening and subsequent monitoring (99.0% and 98.6%, respectively), while optical coherence tomography was performed only in 21.9% and 29.6% of baseline and monitoring examinations, respectively. The average number of monitoring examinations per year was 0.68 ± 0.45. Although the annual percentage of patients receiving a baseline examination within 1 year gradually increased over time, the percentage of those with subsequent monitoring performed within 1 year was similar over the study period. (4) Conclusions: Our finding, appropriate screening in a small proportion of patients receiving tamoxifen, suggests the need to promote awareness among healthcare professionals and develop a standardized approach for screening for tamoxifen retinopathy.

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to the progressive accumulation of glycosphingolipids and the structural and functional impairment of affected organs. Due to the inheritance pattern, male patients are hemizygous with more severe manifestations of the disease as compared to females who, in most cases, are heterozygous with delayed and variable clinical presentation caused by uneven X-chromosome inactivation. Fabry disease cases are often identified by targeted screening programs in high-risk groups, such as in patients with end-stage renal disease, premature stroke, or unexplained cardiomyopathy. Here, we describe a unique case of a homozygous female patient identified by a nationwide screening program in hypertrophic cardiomyopathy patients. Before the systematic screening, the patient had a diagnosis of hypertrophic obstructive cardiomyopathy and was treated accordingly, including with alcohol septal ablation to reduce the obstructive gradient. The confirmation of Fabry disease led to the discovery of the same variant in several members of her family. The identified variant was c.644A&gt;G, p.Asn215Ser (p.N215S), which is known to cause predominant cardiac involvement with late onset of the disease. This variant is amenable to oral therapy with the small-molecule chaperone migalastat, which was started and then interrupted due to the recurrence of the patient’s migraine and then re-initiated again after two years. During this period, the patient received enzyme replacement therapy with agalsidase beta but developed progressively worsening venous access. Our case illustrates the importance of the systematic screening of patients with clinical evidence of hypertrophic cardiomyopathy in whom the routine diagnostic process fails to discover Fabry disease, in particular variants with late-onset cardiac manifestations. Many of the late-onset variants are amenable to orally active therapy with migalastat, which significantly improves the comfort of the treatment. Its long-term results are being analyzed by a large international “Follow-me” registry, which was designed to verify the validity of pivotal trials with migalastat in Fabry disease.

Large-scale real-world data on a multidisciplinary approach to spinal cord stimulation for persistent spinal pain syndromes: first evaluation of the Neuro-Pain® nationwide screening and follow-up interactive register.

Spinal cord stimulation is a common treatment option for neuropathic pain conditions. Despite its extensive use and multiple technological evolutions, long term efficacy of spinal cord stimulation is debated. Most studies on spinal cord stimulation include a rather limited number of patients and/or follow-ups over a limited period. Therefore, there is an urgent need for real-world, long-term data. In 2018, the Belgian government initiated a nationwide secure platform for the follow-up of all new and existing spinal cord stimulation therapies. This is a unique approach used worldwide. Four years after the start of centralized recording, the first global extraction of data was performed. Herein, we present the findings, detailing the different steps in the centralized procedure, as well as the observed patient and treatment characteristics. Furthermore, we identified dropouts during the screening process, the reasons behind discontinuation, and the evolution of key indicators during the trial period. In addition, we obtained the first insights into the evolution of the clinical impact of permanent implants on the overall functioning and quality of life of patients in the long-term. Although these findings are the results of the first data extraction, some interesting conclusions can be drawn. The long-term outcomes of neuromodulation are complex and subject to many variables. Future data extraction will allow us to identify these confounding factors and the early predictors of success. In addition, we will propose further optimization of the current process.

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study's purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples. 2TT was applied when necessary. Neonates with profiles indicating an IEM were reported to a reference treatment center, and subsequent biochemical and molecular studies were conducted for diagnostic confirmation. Among the screened neonates, 677 patients of IEM were identified, yielding an estimated birth prevalence of 1:2607 neonates. The introduction of 2TT significantly reduced false positives for various disorders, and 59 maternal cases were also detected. This study underscores the transformative role of MS/MS in neonatal screening, emphasizing the positive impact of 2TT in enhancing sensitivity, specificity, and positive predictive value. Our data highlight the efficiency and robustness of neonatal screening for IEM in Portugal, contributing to early and life-changing diagnoses.

Cystic fibrosis-related diabetes screening at a large pediatric center.

Cystic Fibrosis Foundation guidelines recommend annual diabetes screening by oral glucose tolerance test (OGTT) in pediatric patients with cystic fibrosis (CF) starting at the age of 10 years. Adherence to these guidelines proves to be challenging, and the nationwide screening rates are still considered suboptimal. The aim of this study was to assess and improve the screening rates at our large pediatric center. A 4-year retrospective audit of OGTT completion among pediatric patients with CF of age ≥10 years who are not yet diagnosed with diabetes was conducted. A collaborative working group was formed to identify the barriers to screening and formulate a quality improvement plan, which was monitored and evaluated for a 9-month period. Diabetes screening rates determined by OGTT completion at our center showed a gradual decline during the COVID-19 pandemic from 2019 to 2022. Following the implementation of the quality improvement plan during the summer of 2023, there was a marked increase in OGTT ordering compliance by providers as well as test completion by patients. Notably, the fractional OGTT completion rate rose from 45% during the preintervention phase (January-April 2023) to 70% during the postintervention phase (May-September 2023). Diabetes screening in pediatric patients with CF can be effectively improved by refining practices related to patient experience, care coordination, and laboratory testing strategies.