bluuebunny/crossref_metadata_2025_split huggingface dataset:
PSAT209 A Remission of Hypocalcemia in Idiopathic Hypoparathyroidism
Authors: Puzio Helene , Nachawi Noura , Hamaty Marwan , Rao Pratibha 
Published: November 2022

Abstract

Background
Acquired hypoparathyroidism is known to be transient when caused by surgical trauma but unlikely in idiopathic etiology. Herein we describe a unique presentation of idiopathic hypoparathyroidism that was diagnosed in early adolescence and remitted in adulthood.

Clinical Case
A male patient was diagnosed with idiopathic hypoparathyroidism at 13 years old after presenting with severe hypocalcemia resulting in generalized convulsive seizure. At diagnosis, his corrected calcium (cCa) was 6.7 (8.5-10.2 mg/dL) and PTH was 8.5 (15-65 pg/mL). Patient was noted to have oral candidiasis raising concerns for autoimmune regulator mutations associated with autoimmune polyendocrinopathy. Adrenal function was normal. Genetic testing was not done due to cost. Calcium citrate of 500 mg twice daily and calcitriol, gradually increased to 1.5 mcg daily, were initiated with normalization of calcium level. At age 24, he presented with altered mental status and was admitted with hypercalcemia and subarachnoid hemorrhage. He had cCa of 12.6 compared with previous calcium levels ∼ 7 (8.5-10.2 mg/dL), ionized calcium of 1.57 mmol/L, magnesium of 1.8 (1.7-2.3mg/dL), hypophosphatemia of 0.4 (2.7-4.8 mg/dL) and undetectable PTH. Further testing showed AKI with creatinine of 2.1, from baseline of 0.8 (0.7-1.22 mg/dL). Vitamin D 25 OH and 1,25 dihydroxy vitamin D, ACE level and PTHrP were all unremarkable. Workup for multiple myeloma was negative. Adrenal and thyroid function tests were normal. CT brain showed diffuse subarachnoid blood with CTA showing an elongated saccular aneurysm measuring 2.57×1.72×1.85 mm.Hypercalcemia and AKI resolved with hydration. Interestingly, corrected calcium remained in the low-normal range between 8.6 - 8.8 (8.5-10.2 mg/dL), throughout 10 days of hospitalization despite holding all calcium citrate and calcitriol supplements, which were also held on discharge. PTH level prior to discharge was 7 (15-65 pg/mL) with cCa of 9.1 and magnesium of 1.7. At one week follow up, a reduced dose of calcium citrate of 250 mg twice a day and calcitriol 0.5 mcg daily were resumed which resulted in recurrent hypercalcemia and AKI with normalization by holding treatment. Repeated testing after one month showed cCa of 8.6, creatinine of 1.3, PTH of 17, magnesium of 1.7, and 25 OH vitamin D of 27.2 (31-80 ng/mL). Calcium citrate of 250 mg daily along with weekly ergocalciferol of 50,000 units and Magnesium Oxide 400 mg TID were initiated. Testing 8 months after the hospitalization revealed cCa of 8.6, creatinine of 1.2, magnesium of 1.6, and a low-normal PTH of 18 which was the highest value ever recorded for this patient.

Conclusion
To our knowledge, this is the second reported case of spontaneous remission of idiopathic hypoparathyroidism in adulthood.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT212 Hyperparathyroidism Secondary to Ectopic Parathyroid Adenoma
Authors: Sy Katrina Vina , Gonzales Maria Cecile 
Published: November 2022

Abstract

Background
In the majority of cases, primary hyperparathyroidism is caused by a parathyroid adenoma, most commonly located within the parathyroid glands. However, in some cases, the parathyroid adenoma can be located aberrantly.

Clinical case
A 78 year old female was referred due to hypercalcemia (ionized calcium 1.63mmol/L). Patient has been known to have elevated calcium (both total and ionized) levels for 3 years and osteoporosis. Initial work up on presentation had been unremarkable hence no further investigation was done and treatment was given. Prior to consult, patient had symptoms of bone pains, particularly in her lower extremities. Kidney function was normal. Patient had never had kidney stones but x-ray demonstrated compression fracture of L2 vertebrae. Work up for hypercalcemia was done, revealing the following results: PTH 196.60 pg/mL, TSH 1.810 mIU/mL, FT4 16.46 pmol/L, FT3 3.55 pmol/L, 24 hour urine calcium 88.40 mg/24 hours, and 25 (OH) D 18.32 ng/dL. Neck ultrasound showed findings of normal-sized thyroid gland with mild parenchymal change, benign cystic nodules and no definite evidence of parathyroid nodule. Parathyroid subtraction imaging was done and demonstrated no scintigraphic evidence of parathyroid adenoma or hyperplasia. Patient was prescribed with calcimimetics (Cinacalcet). However, the patient experienced nausea and body pains and opted to discontinue the medication. Further investigation was performed. Radionucleotide parathyroid imaging using Technitium-99m sestamibi was done which revealed slightly increased tracer activity in the lower midline neck on SPECT imaging, an atypical scintigraphic finding of an aberrantly located parathyroid adenoma possibly in the tracheoesophageal or retroesophageal region. There was no definite scintigtaphic evidence of parathyroid adenoma or hyperplasia in the thyroidal beds or ectopic parathyroid in the mediastinum. A second parathyroid scan with SPECT-CT was performed in another institution and showed a 1.2×1.0 cm, sestamibi avid nodule inseparable from the esophagus and left posterior aspect, anterior to the T2 vertebra, consistent with a thoracic retro-esophageal hyperfunctioning parathyroid adenoma. Patient refused surgery at this point and was given medical management with hydration, Vitamin D correction and antiresorptive agent.

Conclusion
Multiple imaging may be needed to reach an accurate diagnosis for persistent hypercalcemia and elevated parathyroid hormone levels with an absence of lesions in the neck. If the criteria for surgery are met, as with parathyroid adenomas within the parathyroid gland, surgical resection is also the gold standard of therapy for ectopic parathyroid adenomas.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
RF18 | PSAT125 Estimating the relative influence (RI) of genetic risk of 11 glycemic traits on osteoporosis and fractures in 409633 participants in the UK Biobank using Machine learning
Authors: Deshmukh Harshal , Papageorgiou Maria , Sathyapalan Thozhukat 
Published: November 2022

Abstract

Introduction
We used a machine-learning algorithm (gradient boosting) to test the association of genetic risk for 11 glycemic traits with osteoporosis and fractures in the UK Biobank population.

Methods
The study was performed with 409,633 caucasian participants in the UKBIobank. We identified 4626 SNPs associated with 11 glycemic traits from the NGHRI catalogue for GWAS studies. Weighted genetic risk scores (wGRS) were calculated using the effect estimates from the GWAS studies. We used a gradient-boosting machine-learning (GBM) model to identify the relative influence (RI) of baseline variables and wGRS of the glycemic traits on osteoporosis and all-cause fractures in the UK Biobank population. We split the data into training (2/3) and testing set (1/3) and calculated the discriminatory power of the models using the area under the curve (AUC) with the testing model.

Results
The study consisted of 409,633 individuals (53% females) with a median age of 58 (51-63) years and a median BMI of 26.7 (24.1-29.8) kg/m2. The study population had 41954 (10.2%) all-cause fractures and 4995 (1.2%) participants with osteoporosis. In the GBM model, top wGRS associated with all-cause fractures were wGRS for Type 1 diabetes (RI=4.49) and fasting glucose (4.17). In contrast, the top wGRS associated with osteoporosis were wGRS for acute insulin response to glucose (RI=6.74) and Type 1 diabetes (RI=5.62). Both models showed low to moderate discriminatory power with the area under the AUC of 0.57(CI: 0.56-0.57) for fractures and 0.75(CI: 0.74-0.76) for osteoporosis.

Conclusion
We showed a differential effect of wGRS for various glycemic traits on the risk of fractures and osteoporosis in the UK Biobank population. However, the machine-learning model with wGRS for glycemic traits demonstrated limited capacity to predict fractures and osteoporosis in the general population.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m., Sunday, June 12, 2022 1:00 p.m. - 1:05 p.m.
RF18 | PSAT162 Male Runners Have Impaired Tibial Cortical Bone Integrity and Strength Compared to Non-athletes
Authors: Haines Melanie , Kaur Snimarjot , Scarff Geetanjali , Lauze Meghan , Gerweck Anu , Slattery Meghan , Miller Karen , Misra Madhusmita 
Published: November 2022

Abstract
Female athletes with low energy availability are at risk for impaired bone microarchitecture and strength associated with hypogonadism. Data are lacking for bone outcomes in male athletes. We studied 31 men 16-30 years (n=15 runners with mean (±SD) mileage 43±4 miles/week, n=16 non-athlete controls). We assessed distal tibia and radius volumetric BMD (vBMD) and microarchitecture by high resolution peripheral quantitative CT (HRpQCT), estimated bone strength by microfinite element analysis and body composition by DXA. Testosterone, estradiol (by LC-MS) and leptin (by electrochemiluminescence) were measured. Groups did not differ for mean age (24.5±3.6y), BMI (22.2±2.6 kg/m2), lean mass, or testosterone or estradiol levels. Mean tibial cortical vBMD was lower and porosity higher in athletes than controls (p&lt;0.01). In contrast, mean tibial trabecular vBMD and number were higher, and separation lower, in athletes (p&lt;0.02). Athletes with BMI ≤ 21 kg/m2 had lower tibial failure load (bone strength estimate) than those with BMI &gt;21 kg/m2 (p=0.007). Lean mass (R=0.85, p&lt;0.0001), serum leptin (R=0.59, p=0.046) and estradiol (R=0.66, p=0.007), but not testosterone, were associated with tibial failure load in athletes. Athlete and control groups did not differ for HRpQCT variables at the radius. Despite weight-bearing activity, male runners have impaired tibial cortical BMD and microarchitecture, which may increase their risk for bone stress injuries. Lower leptin (reflecting lower fat mass) and estradiol (converted from testosterone in adipose tissue), as well as lean mass, are determinants of lower tibial strength in these athletes, suggesting that low energy availability is a risk factor for impaired bone strength in male runners.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m., Sunday, June 12, 2022 12:36 p.m. - 12:41 p.m.
RF18 | PSAT165 Effect of Age, Gender, & Ethnicity on the Prevalence of Vertebral fractures in Patients with Primary Hyperparathyroidism
Authors: Al-Bacha Souad , Page Brendan , Lam Han , Singer Michael , Cook Bernard , Sudhaker Rao D , Athimulam Shobana 
Published: November 2022

Abstract

Background
Primary hyperparathyroidism (PHPT) is one of the known causes of secondary osteoporosis. PHPT is associated with increased bone turnover, low bone density and quality; but there have been conflicting results on the risk of fractures. There is limited information on the effects of age, gender, and ethnicity on fracture risk in PHPT.

Objective
To determine the prevalence of vertebral fractures (VFx) and associated risk factors in patients with PHPT
Design: Retrospective cross-sectional study
Setting: Academic medical center in a community setting
Main outcome measured: 1) Bone mineral density (BMD), and T- and Z-scores of the lumbar spine (LS). 2) Vertebral morphometry was assessed using the Genant method to identify asymptomatic vertebral fractures (VFx) on CT spine images. 3) Biochemical measurements included serum PTH, Creatinine (Cr) and Calcium (Ca).

Results
In this retrospective study of consecutive 560 PHPT patients verified by surgery [447 women with a median age of 62y; 362 Caucasians (65%), 142 African Americans (AA, 25%) and 22 unspecified race (10%)] were included. Prevalence of VFx was 13% (n=75), other sites 15% (n=84), wrist fractures 3% (n=16) and hip fractures 1% (n=6). Fracture prevalence at all sites was higher in women, but significant only for VFx (71% vs 29%, p=0.04). In subgroup analysis by age (above or below 50y) and gender, there was no significant difference in LS BMD, T- or Z-score values, serum PTH, Ca and Cr in patients with and without VFx. In subgroup analysis by ethnicity: i) prevalence of all fractures was higher in Caucasians compared to AA and others ii) mean serum PTH (±SD) level was significantly higher in AA vs Caucasian patients with VFx (190 ± 124 vs 121 ± 57 pg/mL, p=0.03) and iii) no significant differences were noted in LS BMD, T-or Z-scores, serum Ca and Cr in patients with VFx.
In multivariate analysis (age, serum Ca, PTH &gt;100, and LS BMD) to predict risk of VFx in all patients, only age [OR 1.07, CI 1.03-1.11) and serum Ca [OR 1.7, CI 1.03–2.79] were significant factors. In women, multivariate analysis identified increasing age to be the only significant risk factor to predict risk of VFx. [OR 1.107, CI 1.03-1.12].

Conclusion
Vertebral fractures (VFx) is more prevalent in comparison to wrist and hip fractures in patients with PHPT. Serum PTH is significantly higher in African American PHPT patients with VFx. Increasing age and serum calcium ≥11.1 mg/dL are significant predictors of VFx in PHPT patients.
Presentation: Saturday, June 11, 2022 12:42 p.m. - 12:47 p.m., Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
LBODP025 A Novel Drug Discovery For Primary Aldosteronism Targeting Aldosterone Synthase (cyp11b2) And Kcnj5 Mutant
Authors: Otsubo Yuri , Shimada Hiroki , Yokoyama Atsushi , Sugawara Akira 
Published: November 2022

Abstract
Primary aldosteronism (PA) is a common cause of secondary hypertension. PA induces damage to cardiovascular and renal blood vessels. Therefore, PA is regarded as a problem because it increases the risk of stroke, cardiomyopathy, kidney disease, etc. Aldosterone-producing adenomas (APA) are one of the major causes of PA, and gene mutations are often identified in tumor cells. KCNJ5 mutation is well known as a gene mutation that causes the loss of ion selectivity in APA. KCNJ5 is an inwardly rectifying potassium channel. KCNJ5 induces sodium ion influx due to mutations in APA. The sodium ion influx induces depolarization, and which overexpresses CYP11B2. CYP11B2 is the rate-determining enzyme for aldosterone synthesis, overexpression of CYP11B2 induces aldosterone overproduction. Examples of therapeutic drugs for PA and APA include calcium channel blockers, aldosterone antagonist and β-blockers. However, therapeutic drugs for PA and APA targeting cell membrane depolarization have not been developed yet. We aim to find compounds that suppress CYP11B2 expression by membrane depolarization to develop novel therapeutic drugs for PA and APA. By developing a therapeutic drug that targets depolarization, we hope to establish an effective therapeutic method for APA caused by gene mutations such as KCNJ5 mutation. We performed high-throughput screening (HTS) using Tohoku University Compound Library (6080 compounds). First, we generated H295R-CYP11B2 N-Luc cells in which the luciferase gene is inserted downstream of the CYP11B2 locus. The cells H295R-CYP11B2 N-Luc were stimulated with KCl to cause depolarization, after which candidate compounds were added and HTS was performed by Luc assay. As a result, 101 compounds were selected. Furthermore, 25 of 101 compounds were selected by examining the cytotoxicity and dose response. Also, 11 of the 25 compounds suppressed CYP11B2 mRNA expression in KCl stimulated H295R cells. Secondary, we generated KCNJ5 mutant cells that expressed the KCNJ5 mutant (L168R) in a Doxycycline-inducible manner. 3 of 11 compounds that suppressed the expression of CYP11B2 mRNA were selected by examination using KCNJ5 mutant cells. After that, 2 of 3 compounds decreased the aldosterone production. These compounds have a different structure from existing therapeutic drugs such as calcium channel blockers. Since these can be novel therapeutic drugs for PA and APA caused by depolarization such as KCNJ5, we are examining the detailed mechanism of action of the compounds.
Presentation: No date and time listed
LBODP026 Early Atherosclerosis In High-risk Women With Pcos
Authors: Wu Xiaoying , Wilke Michalean , Ghosh Mahua , Becher Harald , Raggi Paolo , Vine Donna 
Published: November 2022

Abstract

Background
Polycystic Ovary Syndrome (PCOS) is associated with increased cardiometabolic risk factors and cardiovascular disease (CVD). Early CVD screening may be an important tool in young high-risk women to effectively prevent premature morbidity from CVD.

Objective
The aim of this study was to provide evidence-based research in the screening and assessment of early atherogenic dyslipidemia, cardiac dysfunction and subclinical atherosclerotic CVD (ACVD) in high-risk women with and without PCOS. Design, Setting, participants: A case-control study in high-risk women aged 25-45 years with (n=45) and without PCOS (n=25), matched for age and body mass index. Main outcome measures: Atherogenic dyslipidemia including a standard lipid panel, total apoB and remnant cholesterol were measured. ACVD was measured using carotid intima-media thickness (cIMT) and presence of carotid plaque, and cardiac function using ultrasound and 2D/3D echocardiography.

Results
Fasting plasma triglycerides (1.9 ± 0.2 vs 1.2 ± 0.2 mM)and remnant cholesterol (0.85 ± 0.1 vs 0.6 ± 0.1 mM) were significantly elevated by 30% and total apoB tended to be elevated by 20% (1. 0 ± 0.1 vs 0.8 ± 0.1 g/L) in PCOS compared to controls. Those with PCOS had a 5-fold higher incidence of carotid plaque compared to controls but no difference in cIMT or cardiac function indices were observed.

Conclusion
Our data shows detection of early ACVD in PCOS compared to controls, and this is associated with atherogenic dyslipidemia. These results suggest early screening and a risk-stratification model may be warranted in high-risk young women with and without PCOS.
Presentation: No date and time listed
ODP139 Association between serum soluble (pro)renin receptor level and worsening of cardiac function in hemodialysis patients: A prospective observational study
Authors: Morimoto Satoshi , Amari Yoshifumi , Suda Chikahito , Bokuda Kanako , Nakajima Fumitaka , Ichihara Atsuhiro 
Published: November 2022

Abstract

A total of 258 maintenance HD patients were recruited and serum s(P)RR concentration was measured.

Background
factors in patients who survived (S group) and patients who died (D group) during the 12-month follow-up period and relationships between serum s(P)RR level and changes in cardiac function during the follow-up period in the S group were investigated. The median serum s(P)RR value at baseline was29.8 ng/ml. Twenty-four patients died during the follow-up period. Cardiothoracic ratio, human atrial natriuretic peptide (hANP), brain natriuretic peptide (BNP), and E over e-prime were significantly higher in the D group. In the S group, changes in hANP or BNP were significantly greater in the higher serum s(P)RR group than in the lower serum s(P)RR group. High serum s(P)RR level was significantly correlated with changes in BNP, independent of other factors. High serum s(P)RR level was associated with increases in BNP, independent of other risk factors, suggesting that an increased expression of (P)RR may be associated with a progression of heart failure in HD patients and that serum s(P)RR concentration could be used as a biomarker for selecting patients requiring intensive care.
Presentation: No date and time listed
ODP152 Impact of Dietary Cholesterol on LDL: Lessons in Absorption and Overconsumption
Authors: Porter Michael , Wellons Melissa 
Published: November 2022

Abstract

Background
The impact of dietary cholesterol on lipid profiles have remained controversial, highlighted by alterations in the 2015-2020 American Heart Association dietary guidelines abolishing the prior dietary cholesterol limit of 300mg/day. Eggs often are the example cited in this debate as they are a rich source of dietary cholesterol without comparative high levels of saturated fat, 1 of which the effects on LDL cholesterol are well established. To date, evidence has been mixed although most studies show only modest increases in LDL with dietary cholesterol. 1 However, recent research supports significant variation in these findings among predisposed individuals. 2 Heterogeneity in dietary cholesterol absorption can potentially account for these variations and has important clinical implications.

Clinical Case
A 58 year old woman with PMH ulcerative colitis, hyperlipidemia, and radiological evidence of CAD without prior CVD, presented for management of hyperlipidemia. At baseline, her lipid panel in 2015 noted an LDL-C of 125 mg/dL. In 2017, LDL-C was 255 mg/dL, prompting treatment with Atorvastatin. Following initiation of Atorvastatin, LDL-C improved to 137 mg/dL. However, on Atorvastatin, she experienced dermatitis and underwent Dermatology evaluation/biopsy. Medication reaction was favored as the etiology and Atorvastatin was discontinued. In Jan. 2019, off of Atorvastatin, LDL-C was 162 mg/dL. From around 2015-2018, the patient consumed a vegan diet. In 2019, she incorporated nine eggs per day (1600mg dietary cholesterol) into her diet. She denied additional changes to diet or consumption of other animal products. In Aug. 2019, LDL-C was 378 mg/dL. In Aug. 2020, LDL-C was 420 mg/dL. In Aug. 2020, she was advised that her goal LDL was 100 mg/dL or less. She was advised to limit her egg yolk consumption to four per week (∼100 mg/day of cholesterol). She continued to avoid all other animal products. In Oct. 2020, without addition of medication or other notable lifestyle changes her LDL-C decreased to 204 mg/dL. In Jan. 2021, her LDL-C was 130 mg/dL. From 2015-2021, her weight ranged 93-103lbs (BMI ∼16). In Aug. 2021, her LDL-C was 142 mg/dL. Ezetimibe 10mg daily was then added with reduction in LDL-C to a near-target of 103 mg/dL (27% reduction) within four months.

Conclusion
For the average American, current guidelines do not recommend egg restriction as an effective tool for LDL-C lowering. However, as shown in this case, certain individuals may be more prone to high LDL-C when consuming high cholesterol diets. Further study on how to better identify these susceptible individuals could help personalize nutritional and medication treatment plans for patients with dyslipidemia. References: Blesso CN, Fernandez ML. Dietary Cholesterol, Serum Lipids, and Heart Disease: Are Eggs Working for or Against You? Nutrients. 2018 Mar 29;10(4): 426. Grundy SM. Does Dietary Cholesterol Matter? Curr Atheroscler Rep. 2016 Nov;18(11): 68.
Presentation: No date and time listed