bluuebunny/crossref_metadata_2025_split huggingface dataset:
6396 Recurrent hyperparathyroidism due to parathyromatosis
Authors: Valenciaga A , Rayan M N , Ing S W 
Published: October 2024

Abstract
Disclosure: A. Valenciaga: None. M.N. Rayan: None. S.W. Ing: None.
Background: Parathyromatosis is a rare cause of hyperparathyroidism. It refers to numerous parathyroid tissue foci within the neck and mediastinum, arising from the expansion of embryologic parathyroid tissue or due to the dissemination of parathyroid cells during surgical resection of abnormal parathyroid glands. Here, we describe the case of a patient who underwent multiple medical and surgical interventions to manage recurrent hyperparathyroidism secondary to parathyromatosis. Clinical Case: A 28-year-old male with no significant past medical or family history presented to the ED in 2012 after experiencing malaise for months and a syncopal episode. Labs showed serum calcium (Ca) of 18.1 mg/dL and parathyroid hormone (PTH) of 1199 pg/mL. Sestamibi scan was non-localizing, but ultrasound and CT scan identified a 1.5 cm nodule posterior to the right thyroid lobe, concerning for a parathyroid adenoma. He underwent surgical excision of this nodule which revealed benign parathyroid tissue on final pathology. He felt well for a few years, but symptoms recurred in 2017 with hypercalcemia, elevated PTH, and nephrolithiasis. Sestamibi scan was again non-localizing. He underwent a more extensive neck surgery where the right thyroid and a left central neck soft tissue specimen showed atypical parathyroid tissue on final pathology, favoring the diagnosis of parathyromatosis. He underwent a third surgery in 2019 after symptoms recurred, with more hypercellular parathyroid tissue identified in the neck. He remained asymptomatic again until 2021, when his Ca rose to 18.2 mg/dL with PTH of 2159 pg/mL while Sestamibi showed uptake in the left thyroid. He then underwent a fourth, very extensive neck surgery. Pathology revealed at least 36 nodules of parathyroid tissue embedded in skeletal muscle and fibroadipose tissue. No significant cytological atypia was found favoring a diagnosis of parathyromatosis rather than a carcinoma. Post-op PTH improved to 667 pg/mL and calcium levels dropped to 6.2 mg/dL. PTH dropped to 132 pg/mL later that year. A few months later, his levels started to rise, with Ca peaking at 13.3 mg/dL and PTH at 1260 pg/mL in 2023. Sestamibi scan was non-localizing. He had taken cinacalcet but was dose-limited due to nausea. Zometa was also given without good response. We then initiated monthly denosumab 120 mg with improvement in Ca and PTH levels. Conclusions: This is a rare and challenging case, both to diagnose and treat. Due to the scarcity of cases, there are no well-defined clinical guidelines for diagnosis and management. While a great tool, Sestamibi scans in his case have been negative or not completely inclusive of foci that were later found in surgical pathology. Surgery is a key part of management, but patients may not achieve permanent remission, making medical therapy also essential in controlling Ca and PTH levels, and a multidisciplinary approach key in management of these cases.
Presentation: 6/2/2024
6633 Romosozumab Use in a Patient With Osteogenesis Imperfecta Type 3
Authors: Kumar Babu Vedesh , Phatak Sonal 
Published: October 2024

Abstract
Disclosure: V.K. Babu: None. S. Phatak: None.
Introduction: Osteogenesis Imperfecta (OI) is a rare genetic condition with qualitative and/or quantitative abnormalities in type 1 collagen. Its estimated prevalence ranges from 10,000 - 20,000 live births. Fractures are a hallmark feature of this condition. Biphosphosphonates have been widely studied in this patient population. Parathyroid Hormone (PTH) Analogues have also been used. Data from Sclerostin inhibitors is sparse and data from Denosumab is limited to children and pre-menopausal women. We present a post-menopausal female with Osteogenesis Imperfecta Type 3 who failed therapy with oral bisphosphonates, intravenous bisphosphonates, and eventually responded to Romosozumab followed by Denosumab. Clinical Case: This is a post-menopausal female with Osteogenesis Imperfecta Type 3 diagnosed at the age of 20 years. She has no similar family history, denied hearing issues, and reached menopause at 46 years of age. She received a combination of Alendronate, Risedronate and Zoledronic acid from 2004 (44 years old) to 2019 with the last dose of Zoledronic acid 5 mg in September 2019. She sustained multiple fragility fractures throughout that period, with the last one being a pelvis fracture in 2020. Her Serum PTH, Vitamin D, Albumin adjusted Calcium, Serum Phosphorus, Serum Protein Electrophoresis, and Celiac Panel were unremarkable. She was offered the option of continuing with bisphosphonate therapy, or switching to Romosozumab, PTH analogues, or Denosumab. She declined PTH analogues due to need for daily administration. The Sclerostin inhibitor (Scl-Ab), Romosozumab was started on July, 2021 for a duration of 12 months and switched to Denosumab, which is her current therapy. Her Bone Mineral Density (BMD) on Dual Energy Absorptiometry one year following the completion of Romosozumab therapy showed an increase at the Antero-Posterior Lumbar Spine of 20.7%, Left Femoral Neck of 35.0%, and Left Total Hip of 16.2% compared to two years prior with no reported fragility fractures since. Conclusion: Bisphosphonate therapy has been well-studied in patients with OI, especially type 1. Data on patients with OI type 3 is scarce. Our patient continued to sustain fractures despite therapy with oral and intravenous bisphosphonates prompting us to use Romosozumab, off-label. One case has been reported of Romosozumab use in a 65 year old man with OI type 1, with drastic (more than 20%) improvements noted in spine and hip BMD. Our patient with type 3 OI had comparable improvements in BMD with no fractures sustained since. In mouse models of OI, Scl-Ab improved the density, biomechanical strength, and osteoblastic apposition of long bones. A clinical trial with another Scl-Ab, Sertrusumab, for patients with OI types 1, 3, and 4 has been performed and results are awaited. Romosozumab can be considered off-label for patients with OI type 3 not responding to Bisphosphonate and/or PTH analogue therapy.
Presentation: 6/2/2024
6500 Screening Rates in Emerging Adults With Cystic Fibrosis for Cystic Fibrosis-Related Bone Disease: A Retrospective Cohort Study
Authors: Cobb Crystal , Stecenko Arlene , Hunt William R , Linnemann Rachel , Daley Tanicia , Tangpricha Vin 
Published: October 2024

Abstract
Disclosure: C. Cobb: None. A. Stecenko: None. W.R. Hunt: None. R. Linnemann: None. T. Daley: None. V. Tangpricha: None.
INTRODUCTION Cystic fibrosis bone disease (CFBD) is a common endocrinopathy in patients with cystic fibrosis (CF). Poor bone health is associated with increased risk of fractures, potentially leading to decreased pulmonary function and worse health outcomes. The transition period from adolescent to adult care is a particularly vulnerable period in terms of bone health. It is recommended that patients with CF have bone density screening starting at age 18 and every 1-2 years. The purpose of this study was to examine the frequency of bone density screening in adolescents and young adults with CF followed at a single accredited CF center. Methods This was a retrospective chart review of patients with CF between ages 18 and 30 who had transitioned to adult care between 2013 and 2023 at our CF clinic. Frequency of bone density screening was assessed by completion of dual-energy x-ray absorptiometry (DXA) and included the last pediatric Z-scores, if available, and adult Z-scores up to 10 years after transition. Height adjusted Z-scores were used when appropriate for pediatric values. Transplant patients and patients who did not attend at least one year of adult clinic were excluded. Results Ninety-five patients were identified. Seven patients did not have documentation of a DXA scan, while 88 had at least one DXA scan as emerging adults. Ten out of 88 adults received a repeat DXA within 2 years of their prior scan. 42 out of 88 (48%) of patients were at risk for CFBD with at least one Z-score ≤ -1. Of these at risk patients only 5 got a repeat DXA within two years. None of the patients undertook routine DXA exams consistently every 2 years regardless of risk. CONCLUSION Our study suggests that emerging adults with CF and decreased bone mineral density are being under screened for progression of CFBD. Evaluating the barriers to bone density screening will be important to optimize bone health and improve outcomes. In the era of CFTR modulator therapies, more attention to bone health is required especially with the increased life expectancy of people living with CF. Strategies focused on increased bone density screening, promotion of healthy lifestyle, optimizing nutritional status, and addressing hypogonadism appear to be critical in this transition period for young adults with CF.
Presentation: 6/3/2024
8224 Vitamin D Supplementation for Healthy Elderly People and the Incidence of Fracture: A Systematic Review and Meta-Analysis
Authors: de Souza M d , Moraes Dantas R L , Duraes V L , Renganathan G , Mendes T B 
Published: October 2024

Abstract
Disclosure: M.D. de Souza: None. R.L. Moraes Dantas: None. V.L. Duraes: None. G. Renganathan: None. T.B. Mendes: None.
Background: The impact of vitamin D supplementation on the incidence of fracture in healthy elderly individuals remains uncertain. Objectives: We performed a systematic review and meta-analysis of studies investigating the incidence of fracture in healthy elderly patients with supplementation of vitamin D at doses exceeding 800 IU per day in comparison to placebo. Methods: We systematically searched PubMed, Embase and Cochrane Central Register of Controlled Trials in November 2023 with the main following search terms: ‘Vitamin D’, ‘supplementation’, ‘elderly’, ‘fracture’ and ‘randomized trial’. The initial search revealed 2,160 articles that were screened and assessed according to inclusion and exclusion criteria. Risk ratio (RR) and Hazard ratio (HR) with 95% confidence intervals were used to compare treatment effects for categorical endpoints. Heterogeneity was evaluated with Cochran Q test and I2 statistics; p values inferior to 0.10 and I2&gt;25% were considered significant for heterogeneity. Results: A total of seven randomized controlled trials with 71,899 patients were included, of whom 36,822 (51.2%) were women. A total of 25,916 (78.2%) participants received a daily dose of vitamin D higher than 1,500 UI. The incidence of total fractures was not significantly different between participants who received vitamin D or placebo (RR 1.01; 95% CI 0.81-1.09; p=0.92; I2=57%) / HR 1.03; 95% CI 0.97-1.27; p=0.5; I2=45%). There was no difference in regards vitamin D dosage analysis (&lt; 1500 UI/day RR 1.06; 95% CI 0.81-1.39; p=0.67; I2=82%/ ≥ 1500 UI/day RR 0.97; 95% CI 0.90-1.04; p=0.38; I2=0%).There was a significant 34% relative risk increase of hip fractures among women treated with vitamin D compared to placebo (121 events in 14033 participants) (RR 1.34; 95% CI 1.06-1.70; p=0.01; I2=0%). In the subgroup of men, there was no significant difference in hip fractures with supplementation of vitamin D compared to placebo (RR 0.86; 95% CI 0.65-1.13; p=0.28; I2=0%) / HR 0.87; 95% CI 0.65-1.18; p=0.37; I2=0%). Conclusion: In this meta-analysis of 71,899 healthy elderly individuals, the supplementation of vitamin D significantly increased the risk of hip fractures compared to placebo among women.
Presentation: 6/2/2024
9305 Circulating MicroRNA-based Biomarker Combinations for Differentiating Uni- and Bilateral Primary Aldosteronism Using a Machine Learning Approach
Authors: Vekony Balint , Nyiro Gabor , Herold Zoltan , Fekete Janos , Ceccato Filippo , Gruber Sven , Kurzinger Lydia , Parasiliti-Caprino Mirko , Szeredas Balint , Nazri Siti Khadijah Syed Mohammed , Fell Vanessa , Bassiony Mohamed , Azizan Elena A B , Bancos Irina , Beuschlein Felix , Igaz Peter 
Published: October 2024

Abstract
Disclosure: B. Vekony: None. G. Nyiro: None. Z. Herold: None. J. Fekete: None. F. Ceccato: None. S. Gruber: None. L. Kurzinger: None. M. Parasiliti-Caprino: None. B. Szeredas: None. S. Syed Mohammed Nazri: None. V. Fell: None. M. Bassiony: None. E.A. Azizan: None. I. Bancos: None. F. Beuschlein: None. P. Igaz: None.
Background: The differentiation of uni- and bilateral forms of primary aldosteronism (PA) is of pivotal clinical relevance. Whereas unilateral PA warrants surgical treatment, bilateral PA is treated by aldosterone antagonists. The most reliable way to differentiate these two entities is adrenal venous sampling (AVS) that is an invasive method with limited availability and requiring great expertise. Aim: To develop a circulating blood-borne microRNA-based approach using machine learning for the differentiation of uni- and bilateral PA. Methods: Circulating microRNA profiling on an Illumina MiSeq platform was performed on total RNA samples isolated from EDTA-anticoagulated blood specimens taken by AVS from 18 pairs of right and left suprarenal veins (10 uni-, 8 bilateral PA). Significantly differentially expressed microRNAs were analyzed by a neural network (90-10% learner-tester cross-validation simulation). From the top 29 significantly differentially expressed microRNAs, 9 were selected for validation by Taqman RT-qPCR on a separate cohort of 30 AVS-confirmed samples (15-15 uni- and bilateral forms) both on plasma samples from adrenal as well as from peripheral veins. The method was finally tested on another independent cohort of peripheral blood samples from 80 patients (40 uni- and 40 bilateral PA). Results: Regarding the 9 microRNAs selected for validation, microRNA abundance was non-significantly lower in peripheral samples compared to AVS samples. By analyzing peripheral plasma samples, ten combinations of 4-8 microRNAs from the pool of 9 microRNAs turned out to have maximal sensitivity and specificity values over 85 %. The best combination included 6 microRNAs with a sensitivity of 86.3 % and a specificity of 87.91 % (AUC = 0.871). The inclusion of further parameters such as imaging, potassium and renin levels did not improve the model’s performance. Conclusion: The analysis of circulating blood-borne microRNAs represents a minimally invasive and potentially reliable way of differentiating uni- and bilateral PA. If bilateral PA is confirmed by the model, no more localization efforts would be necessary thus simplifying the management of PA patients. This would be relevant both from the patient’s and a public health perspective.
Presentation: 6/3/2024
9169 Evaluation Of Screening Practices For Primary Aldosteronism In Patients With Treatment Resistant Hypertension
Authors: Markovic N , Brankovic M , Smith A P , Mittal A , Matassa D 
Published: October 2024

Abstract
Disclosure: N. Markovic: None. M. Brankovic: None. A.P. Smith: None. A. Mittal: None. D. Matassa: None.
Background: Despite the recognized high prevalence of primary aldosteronism (PA) in patients with treatment resistant hypertension (TRH), PA remains underdiagnosed. Our aim was to investigate the appliance of screening recommendations for secondary causes of TRH in the largest inner-city population in New Jersey. Method: The retrospective chart review analysis included all patients with TRH evaluated in the internal medicine clinic from July 2020 to July 2021. Initial patient charts were obtained based on the number of antihypertensive medications used for treatment. All patients on 3 or more antihypertensives, including one diuretic, were evaluated. Subsequently of 242 charts evaluated, 102 were excluded due to either patient noncompliance with medications or being controlled on 3 antihypertensive medications including diuretic. All patients who did not have BP at goal (&gt;140/90 mmHg) while on 3 antihypertensives or BP at goal while on 4 antihypertensives were included in the study. Result: Of 140 patient charts included, 66.4 % were female and 33.6% male. Most of our population based on race and ethnicity were African American (66.8%) and Latin American (14.3%), Asian and White represented 2.1% and 1.4%, respectively, and 13.6% declared themselves as other. In patients with TRH microalbumin/creatinine ratio was checked in 95.7%, CMP in all patients, HbA1C in 98.6%, TSH in 93.6%, PTH in 29.3% and uric acid in 28.6%. Plasma renin was ordered by providers in 32 patients (22.9%) and plasma aldosterone in 33 patients (23.6%) out of which plasma aldosterone to plasma renin ratio was completed in 10.7% of patients at least one time, 5.7% two times and 2.9% three or more times. Renal artery ultrasound was completed in 17.1% out of which 0.7% (1 patient) was found to have renal artery stenosis. CT abdomen/pelvis was performed in almost half of our patients (49.3%) and majority (92.9%) had ophthalmology referral. There were no differences in the screening for PA based on patient race, ethnicity, and insurance. Conclusion: This data shows that in patients with TRH only less than one third had appropriate work-up ordered that included plasma aldosterone to plasma renin ratio with an even smaller percentage of patients completing the test. Our next step is to increase the number of charts reviewed and to develop tools that will be available in the clinical settings to increase the frequency of screening for PA in patients with TRH.
Presentation: 6/1/2024
7974 Expression of C-X-C Motif Chemokine Receptor 4 (CXCR4) in Aldosterone-Producing Adenomas and Adjacent Non-Functional Adenomas
Authors: Wu Chun-Yi , Nanba Kazutaka , Blinder Amy , Luther James M , Turcu Adina , Giordano Thomas J , Udager Aaron , Rainey William E 
Published: October 2024

Abstract
Disclosure: C. Wu: None. K. Nanba: Grant Recipient; Self; AstraZeneca. A. Blinder: None. J.M. Luther: None. A. Turcu: None. T.J. Giordano: None. A. Udager: None. W.E. Rainey: None.
Background: Primary aldosteronism (PA) is the leading cause of endocrine hypertension, and when unilateral, it can be cured with adrenalectomy. Subtyping into unilateral or bilateral disease can be costly, invasive and clinically challenging. Aldosterone-producing adenoma (APA)-targeted positron emission tomography/computed tomography (PET/CT) has emerged as a potential non-invasive imaging technique that could circumvent the need for adrenal venous sampling (AVS) for subtype determination. Radiolabeled probes have been developed that bind the enzyme aldosterone synthase (CYP11B2) and chemokine receptor 4 (CXCR4). However, the expression of CXCR4 in APA and non-functional adenomas (NFA) has not been extensively studied. Objective: To evaluate the differential expression of CXCR4 in APA versus NFA, thereby assessing its utility as a reliable biomarker in PET/CT imaging for PA subtyping. Methods: A cohort of twenty-one patients with PA who underwent unilateral adrenalectomy and were found to have an APA and an adjacent NFA were included in this study. Formalin-fixed, paraffin-embedded (FFPE) sections of resected adrenal tissue were used for the analysis. Aldosterone synthase (CYP11B2) immunohistochemistry (IHC) was performed to identify APA (CYP11B2-positive) and NFA (CYP11B2-negative). APA and NFA RNA was isolated followed by quantitative RT-PCR (qPCR) for ACTB (β-actin), CYP11B2, and CXCR4. Results: Compared to the adjacent NFA, APA expressed 1108 ±370-fold more CYP11B2 (P=0.007). For CXCR4 the average fold increase of APA relative to the adjacent NFA was 2.41 ±0.72 (P=0.059). Not only did APA CXCR4 mRNA expression not reach statistical significance compared to NFA, 8 of 21 patients had higher CXCR4 transcript levels in the adjacent NFA than in APA. Conclusions: Our findings confirm CYP11B2 expression as a robust and specific APA marker with low levels observed in NFA. The transcript analysis of CXCR4, however, questions its utility as a selective marker for APA over NFA. Additional studies are needed to examine the CXCR4 protein expression in APA versus other adrenal tumors to ensure specificity of CXCR4 as an APA marker in PET/CT imaging modalities.
Presentation: 6/3/2024
7042 From NAFLD to MASLD: Assessing the Impact of Changing the Definition of Fatty Liver Disease
Authors: McPhaul M J , Louie J Z , Shiffman D , Bril F 
Published: October 2024

Abstract
Disclosure: M.J. McPhaul: Consulting Fee; Self; Quest Diagnostics. J.Z. Louie: Employee; Self; Quest Diagnostics. D. Shiffman: Consulting Fee; Self; Quest Diagnostics. F. Bril: None.
Nonalcoholic fatty liver disease (NAFLD) has been renamed metabolic dysfunction-associated steatotic liver disease (MASLD), and its definition has also been updated to include the presence of at least one cardiometabolic (CM) risk factor. The aim of this study was to assess the demographic and biochemical characteristics of patients with NAFLD, who do not meet criteria for MASLD, and to assess the effect of cumulative number of CM risk factors on liver disease severity. Methods: The study population included 33,674 participants in the 2020 annual wellness program of a nation-wide employer that included laboratory tests and anthropometric measurements, after excluding those with incomplete data and BMI &lt;18.5 kg/m2. Hepatic steatosis was defined as intact insulin (II)*ALT ≥290 (Bril et al, JCEM 2021). CM risk factors were defined according to MASLD definition. Differences between groups were assessed using t-tests or Chi-square tests. The association between number of CM risk factors and hepatic steatosis was assessed by a trend test. Association with II, AST, and ALT was assessed by linear regression models. Results: A total of 7,059 (27%) participants had hepatic steatosis. However, 61 (1%) of these participants did not have any CM risk factors, and thus had NAFLD, but not MASLD. Compared with participants with no steatosis, they were younger (-8 [95% CI: -10 to -5] years), had a lower fraction of women (54 vs. 67%, p=0.04), higher fraction of Hispanic patients (28 vs. 13%, p=0.0007). Despite absence of CM risk factors, 39% were insulin resistant (II&gt;10.5 uIU/mL). This group of patients with no CM risk factors had plasma AST and ALT levels that were higher than MASLD patients (p &lt;0.002). Among patients with hepatic steatosis and only 1 CM risk factor, the most common CM risk factors were overweight, obesity, or increased waist circumference. Less than 15% had any glucose, lipid, or BP abnormality. Higher number of CM risk factors was associated with a higher prevalence of hepatic steatosis (p&lt;0.0001). Among patients with MASLD, higher number of CM risk factors was associated with higher levels of II (p&lt;0.0001), but not with higher AST or ALT (both p&gt;0.15). Conclusion: Changes in NAFLD definition resulted in a new subgroup of patients that were previously defined as NAFLD, but do not have MASLD. Our results showed that this group of patients are likely to have insulin resistance and may be at risk of liver fibrosis, despite their lack of CM risk factors.
Presentation: 6/2/2024