bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-376 Head to Toe Hyperparathyroidism - Impending Hyperparathyroid Crisis and Subsequent Crystal Arthropathies
Authors: Thomson Alastair , Shresta Sujata , Hope Lisel Marva 
Published: May 2020

Abstract
The myriad of presentations associated with PHP are well established, however gout is not commonly associated with this disease. Additionally, it is unusual to see multiple threatening and potentially debilitating complications occur concurrently in one patient.
An asymptomatic elderly male with hypertension presented to the PCP for the first time and was found on routine blood work to have a serum creatinine of 4.03 mg/dl, a serum calcium of 12.1mg/dl, and a PTH of 831.7ng/L. Subsequent Tc-99 Sestamibi scanning suggested that the source was both a single right inferior parathyroid adenoma and an ectopic mediastinal adenoma. At the initial encounter the patient’s hypercalcemia was treated with IV fluid resuscitation and calcitonin then subsequently cinacalcet. Renal ultrasound at that time showed normal sized kidneys with several cysts, and phosphate levels ranged from 2.0-3.9 mg/dl (range 2.5-4.5mg/dl. The patient’s serum calcium was controlled at 10.44mg/dl, and his renal function improved to a serum creatinine of 3.08mg/dl. Prior to discharge patient developed acute left knee pain, and was found to have an inflammatory arthritis, with urate crystals seen. The patient was diagnosed with an acute gout flare, which responded well to colchicine and was discharged. The patient eventually underwent parathyroidectomy, which showed a large 4cm left superior parathyroid as well as a large right superior parathyroid gland extending into the mediastinum. Pathology was consistent with parathyroid hyperplasia. After surgery, the patient developed hungry bone syndrome, with an admitting serum level calcium of 6.05mg/dl, serum magnesium of 2.00mg/dl, serum phosphorus of 2.8mg/dl, and serum potassium of 5.1mg/dl, with clinical features of tetany and weakness that resolved after two days with calcium and calcitriol administration. He again had an acute monoarticular arthritis prior to discharge that had both urate and calcium pyrophosphate crystals in the joint fluid and again responded well to colchicine and glucocorticoids. He was eventually discharged on vitamin D and calcium supplementation, with cinacalcet and colchicine.
This case illustrates the multiple clinical teaching points that exist in primary hyperparathyroidism, including both types of presentation and potential complications. It also expresses the need to be vigilant of some rarer clinical features, such as potential hyperparathyroid crisis and multiple enlarged parathyroid glands. Physicians should also be wary of both gout and CPPD, as well as complications that occur post parathyroidectomy such as hungry bone syndrome.
SUN-550 CARF Through Its Lipid Lowering Effect May Play a Pivotal Role in the Development of Non-Alcoholic Fatty Liver Diseases
Authors: Hasan Kamrul M , Parveen Meher , Pena Alondra , Sinha-Hikim Amiya P , Friedman Theodore C 
Published: May 2020

Abstract
CARF (Collaborator of ARF), a member of ARF-MDM2-p53 pathway and an emerging multifunctional protein, regulates cellular fate in response to various stresses including oxidative DNA damage and replicative stresses. However, its role in metabolic syndrome (MS) and associated diseases has not been studied. This study, using our well established in vivo and in vitro model systems, examines the role of CARF in the development of non-alcoholic fatty liver disease (NAFLD). Indeed, we have found that, compared to control, CARF expression along with Sirt1, pAMPK and pACC (common biological markers of NAFLD) was significantly decreased in the nicotine and high-fat-diet (HFD) in combination or HFD alone induced fatty livers. Additionally, CARF expression was down regulated in palmitate (PA)-treated HepG2 cells, an in vitro model of steatosis, suggesting that CARF expression is negatively regulated in MS, such as NAFLD. Our study further revealed that shRNA mediated knockdown or lentiviral mediated over expression of CARF induced or reduced endogenous fat accumulation, respectively, in HepG2 cells. We also found that overexpression of CARF lowered the exogenous fat accumulation in PA treated HepG2 cells. RNA seq analysis after CARF knockdown in HEK-293T cells further revealed that genes associated with lipid metabolism and triglyceride (TG) synthesis such as diacylglycerol O-acyltransferase2 (DGAT2), acyl-CoA synthetase long-chain family member 4 and 6 (ACSL4, ACSL6) were upregulated in CARF-depleted cells. Likewise, we also found increased expression of DGAT2 in CARF-depleted HepG2 cells, which enhanced TG synthesis. Intriguingly, consistent with the lipid lowering effects of metformin, an antidiabetic drug, we further found that CARF expression along with pAMPK and Sirt1 were significantly increased in metformin-treated HepG2 cells. However, we also found increased pACC levels in CARF over-expressing cells which was further enhanced in metformin-treated cells, suggesting, for the first time, that CARF may contribute to lipid lowering effect of metformin by inhibiting lipogenesis. We conclude that CARF has a lipid lowering effect in hepatocytes and its down regulation in response to MS perturbs lipid metabolism that may lead to the development of NAFLD.
SAT-646 Do Diabetes and Hypertension Mobile Apps Overlap?
Authors: Wong Jonathan , Wu Gloria , Leung Brian , Lau Chap-Kay K , Momen Donia 
Published: May 2020

Abstract
Background: Mobile health apps have 3.7 billion downloads yearly. The interest in patient-generated data is increasing yearly. Diabetes and cardiovascular apps occupy a significant part of the eHealth space. However, diabetic patients could have both diabetes (DM) and hypertension (HTN), and hypertensive patients may have prediabetes or diabetes as well. Do these eHealth apps meet the needs of the patient with both diabetes and hypertension?
Purpose: Do Diabetes apps ask questions about blood pressure control and do Hypertension apps ask questions about diabetes management?
Methods: Using the search term “diabetes,” and similarly, using the search term “blood pressure” (BP), Google Play Store was accessed for two lists of the most downloaded, free DM and BP Android apps. Inclusion criteria: 1) downloads &gt; 100,000, 2) free, 3) medication adherence (push notification), 4) FBS/HbA1c, 5) lipids. For the diabetes apps, we evaluated them for Diabetes Self-Management Education Support Guidelines (DSMES), in addition to renal and CV complications. For the BP apps, we evaluated them for BP, ACC/AHA guidelines, weight, BMI, Diet, Na+ intake, K+ intake, exercise log, alcohol intake, and medication log. Exclusion criteria: purely educational apps, no data on downloads or rankings. Results: 10 diabetes mobile apps in descending order were: 1) mySugr, 2) Onetouch Reveal, 3) Ontrack Diabetes, 4) Diabetes, 5) Health2Sync - Diabetes Care, 6) Diabetes Connect, 7) Glucose Buddy Diabetes Tracker, 8) Diabetes:M, 9) Blood Glucose Tracker, and 10) OneDrop Diabetes Management. We found 10/10 tracked FBS/HbA1c; 18.2%-81.8% had DSMES; 1/10 log entry of “heart palpitation;” 0/10 renal complications; 7/10 medication reminders. 10 blood pressure apps in descending order were: 1) BP (Szymon), 2) BP Watch, 3) BP Log My Diary, 4) BP Diary (openit.inc), 5) BP Log (bpresso.com), 6) BP Diary (FRUCT), 7) BloodPressureDB, 8) Cardio Journal, 9) BP (OrangeKit), 10) BP Diary (Health&Fitness Tracker). We found 10/10 BP logs; 2/10 ACC BP guidelines; 3/10 HbA1c/FBS; 1/10 lipid log; 0/10 diet, Na+ intake, K+ intake; 2/10 exercise log; 8/10 push notification for medication adherence. Discussion: eHealth apps emphasize the use of patient generated health data to manage chronic disease and cost containment. This small study shows that for the most popular, free diabetes and hypertension apps, few follow all the guidelines from the ADA or ACC/AHA.
Conclusion: The Diabetes apps follow the DSMES guidelines more than the Hypertension apps follow the ACC/AHA guidelines. In the future, there is room for improvement for eHealth apps and the management of diabetes and comorbid conditions such as hypertension.
SAT-188 An Unusual Case Of Intra-adrenal Purely Norepinephrine Secreting Pheochromocytoma
Authors: de Souza Tamara Gizelle , Ayala Alejandro , Jara Mark Anthony , Hannoush Zeina Carolina 
Published: May 2020

Abstract
Background: In 40% of pheochromocytoma/paraganglioma (PPGL) cases a causal germline mutation in a well-defined gene can be identified. The remainder are sporadic. The most common hereditary syndromes are NF1, MEN2 and VHL. Paragangliomas usually produce exclusively norepinephrine (NE) and are more likely to metastasize than adrenal tumors. Exclusively NE producing adrenal tumors are extremely rare and almost always associated with VHL or SDH syndromes (1).
Clinical Case: A 45-year-old South Asian woman with a 5-year history of HTN controlled on losartan presented emergently complaining of chest pressure. Cardiovascular workup was unrevealing. CT chest showed an incidental 3.2 x 2.4 cm lipid-poor left adrenal adenoma. No further follow-up done at that time. Two years later she presented with recurring episodes of chest pressure and uncontrolled HTN on amlodipine, metoprolol and losartan. She denied panic attacks, diaphoresis and other symptoms of anxiety. She denied personal and familial history of clinical features seen in NF1, MEN 2, VHL or SDH. Plasma metanephrines were 26 (&lt;=57 pg/mL) and free normetanephrine 902 (&lt;=148 pg/mL). 24-hour urine metanephrine was 178 (58-203 mcg/24h), normetanephrine 2422 (88-649 mcg/24h) and total metanephrine 2600 (182-739 mcg/24h) confirming the diagnosis of a solely NE secreting PPGL. MRI abdomen showed a well-circumscribed 3.3 cm lipid-poor left adrenal mass. MIBG scan and SPECT CT showed a focal area of intense radiotracer uptake corresponding to a 3.2 x 2.5 cm mass within the left adrenal gland. No extra-adrenal activity was demonstrated. Alpha blockade was started with doxazosin and the patient asked to salt/fluid load. She underwent left adrenalectomy. Pathology revealed a 5 x 2.5 x1.1 cm intra-adrenal pheochromocytoma; Chromogranin (+), synaptophysin (-), MIB1 low reactivity &lt; 5%, S100 positive in sustentacular cells, keratin (-), EMA (-), Inhibin (-). Genetic testing for VHL, SDHD, SDHB, SDHC and MAX has been ordered per guidelines. One month post-operatively the patient had no symptoms of adrenergic overactivity and normal plasma metanephrine levels.
Clinical Lessons: This rare case of norepinephrine-only secreting pheochromocytoma is made even more unusual by absence of features of autosomal dominant hereditary syndromes. This may be sporadic or present a novel VHL, SDHD, SDHB, SDHC or MAX germline mutation (2).
1.
Eisenhofer, G., et al., Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel–Lindau syndrome. 2004. 11(4): p. 897.
2.
Ercolino, T., et al., Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations. Clinical Endocrinology, 2008. 68(5): p. 762-768.
SAT-289 Evidence That Combined Pituitary Hormone Deficiency Frequently Has a Digenic/Oligogenic Etiology
Authors: Jee Youn Hee , Gangat Mariam , Yeliosof Olga , Temnycky Adrian , Vanapruks Selena , Gourgari Evgenia , Yanovski Jack Adam , Link Kathleen , Ten Svetlana B , Baron Jeffrey , Radovick Sally 
Published: May 2020

Abstract
Congenital hypopituitarism usually occurs in a child without a family history of pituitary disease. Explanations for such sporadic occurrence include: 1) monogenic inheritance (recessive or de novo), 2) digenic/oligogenic inheritance, and/or 3) nongenetic factors. To help distinguish these possibilities, we studied 9 children with hypopituitarism (HP)(small anterior pituitary gland, ectopic posterior pituitary, and either isolated GH deficiency (n=1) or combined with other pituitary hormone deficiencies(n=8)), with non-consanguineous parents and no family history of pituitary disease. SNP array analyses confirmed paternity and non-consanguinity and excluded significant copy-number variation. Exome sequencing was performed in probands and parents. Candidate variants (coverage &gt;10, confirmed by examining BAM files, population frequency &lt;1%, &lt;2 homozygous subjects in gnomAD, and pathogenic prediction by at least 2 out of 3 prediction algorithms (SIFT, MutationTaster, PolyPhen2)) were identified. Children with non-familial non-endocrine idiopathic short stature (ISS) (n=19, sequenced at the same laboratory followed by simultaneous data processing with HP patients), served as a control group. To assess the frequency of genetic (mono-, di-, or oligogenic) HP cases, we identified heterozygous variants (regardless of inheritance) in 42 genes previously reported to be associated with pituitary development. The average number of variants per proband was greater in HP than in ISS (1.1 vs 0.26, P = 0.04). Similarly, the number of probands with at least 1 variant in a pituitary-associated gene was greater in HP than in ISS (67% vs 21%, P = 0.035). These data suggest that sporadic hypopituitarism is frequently genetic. To assess the number of monogenic cases, we counted the number of candidate variants (in any gene in the genome, to capture undiscovered causes) that were inherited in a fashion that could explain the sporadic occurrence with a monogenic etiology (de novo mutation, autosomal recessive, X-linked recessive). There were fewer monogenic candidates in subjects with HP than ISS (1.6 vs 2.6 candidates/proband, P = 0.03). These data are consistent with approximately 1.6 non-causative variants/proband in both groups plus approximately 1 causative monogenic variant in ISS vs approximately 0 causative monogenic variants in HP. Candidate variants in genes previously reported to explain the phenotype were identified in 0 out of 9 trios with HP and in 8 of 19 trios with ISS (42%). These findings suggest that a monogenic inheritance is less common in HP than in ISS. In conclusion, the findings suggest that sporadic congenital hypopituitarism is frequently genetic but infrequently monogenic, implying a likely digenic/oligogenic etiology.
SUN-473 Primary Hyperparathyroidism and Papillary Thyroid Carcinoma, Association or Coincidence?
Authors: Nandu Nitish Singh , Gilden Janice L 
Published: May 2020

Abstract
Background: The Parathyroid glands originate from the Pharyngeal pouches, Inferior from the third and superior from the fourth. Rarely these glands migrate to the thyroid gland, isthmus or thymus and become ectopic. Primary Hyperparathyroidism (PHPT) is a common cause of hypercalcemia in ambulatory patients. It is also more frequent in women and increases with age. Its treatment is often surgical removal of the affected parathyroid gland. We present a case of an ectopic parathyroid adenoma hidden within the thyroid lobe, treated by thyroid lobectomy ultimately leading to the diagnosis and management of Papillary thyroid carcinoma. Case report: A 73-Year-old female with DM, HTN, hyperlipidemia, osteoporosis was referred to the Endocrine clinic for a history of fractures to the right upper and lower extremities after trivial falls, She was subsequently evaluated for metabolic bone disease, noted to have a PTH 78 (n=14-64 pg/ml) with a total serum calcium 9.7 (n=8.6-10.4 mg/dl), 25-OH Vit-D 14 (n=30-100 ng/ml), urinary calcium to creatinine ratio 20 (n=10-320 mg/g). The parathyroid scan showed persistent activity in the area of the inferior margin right thyroid lobe, suggesting a parathyroid adenoma. She had a parathyroidectomy and during the procedure, the parathyroid gland was unable to be visualized. Hence the Right inferior thyroid lobe was removed. The pathology also showed papillary thyroid carcinoma and the patient had a total thyroidectomy. Discussion: The relationship between PHPT and Papillary thyroid carcinoma still remains unclear. Our patient demonstrated a rare circumstance, wherein the presence of a parathyroid adenoma within the thyroid gland has led to early diagnosis and timely treatment of papillary thyroid carcinoma. Few authors reported thyroid malignancy as the most prevalent cancer among patients with PHPT as the primary disorder. While others report concurrence as a coincidental pathology. Nevertheless, we emphasize the importance of surveillance for thyroid pathology in patients with PHPT that can provide better overall patient outcomes.
References: 1. Vargas-Ortega, G., et al. (2018). “Symptomatic Primary Hyperparathyroidism as a Risk Factor for Differentiated Thyroid Cancer %J Journal of Thyroid Research.” 2018: 6. 2. Miccoli, P., et al. (2006). “Incidental thyroid carcinoma in a large series of consecutive patients operated on for benign thyroid disease.” ANZ J Surg 76(3): 123-126. 3. Bentrem, D. J., et al. (2002). “Is preoperative investigation of the thyroid justified in patients undergoing parathyroidectomy for hyperparathyroidism?” Thyroid 12(12): 1109-1112.
MON-455 Papillary Thyroid Carcinoma in the Thyroglossal Duct
Authors: Franco Katty Manrique , Manrique Helard Andres , Yauri William Lapa , Villanueva José Solis 
Published: May 2020

Abstract
BACKGROUND
In the thyroglossal duct (TD) there are remains of thyroid tissue in 1-40%. Thyroid cancer diagnosed in this duct is an uncommon finding, with a prevalence of less 1% and must meet these criteria: identify the TD, locate remains of carcinoma in it; absence of cancer in the thyroid gland and presence of thyroid follicles in the TD. We present a patient with thyroid cancer in the TD.
CLINICAL CASE
63-years-old-woman. 18 months ago, she noted a submandibular tumor associated to asthenia, weight loss and tremor. On physical examination: 3cm tumor, increased consistency, near to the hyoid bone and 1.5cm left cervical adenopathy. Blood analysis: TSH 0.01 (0.2-4.5) and FT4 5.53 (0.9-1.7). Hyperthyroidism was diagnosed and she started Tiamazol 10mg/bid and propanolol 20mg/tid.
Thyroid US: diffuse goiter. Soft tissue US: heterogeneous mass 39x15x26mm in midline of suprathyroid region suggestive of neoformative process.
Cervical CT scan: solid, heterogeneous, neoformative tissue, located in the midline, infiltrating prelaringeal muscles in contact with hyoid bone. Cervical adenopathy in group II on right side and group III and IV on the left side. Increase in thyroid gland volume.
FNA US guided of suprathyroid tumor was performed: cytology compatible with papillary thyroid carcinoma, Bethesda VI. FNA left adenopathy: compatible with metastasis papillary carcinoma.
Midline tumor exeresis in relation to a TD (Sistrunk surgery), total thyroidectomy plus left lymph node dissection group IIA, IIB, III, IV and V was performed.
Surgical findings: Right lobe thyroid 4x3x2cm with 1cm nodule on the upper pole. Left thyroid lobe 6x4x2cm with multiple nodules, the largest one in upper pole, 2cm. Multiple adenopathies. A 3x3x1cm tumor with irregular edges, hard consistency, adhered to the hyoid bone was removed.
The histology was compatible with papillary thyroid carcinoma in the TD. Thyroid gland was informed as simple goiter.
150ug of levothyroxine was initiated. Six months later, she receives 100mCi I131. The total body scan was positive for thyroid remnant in cervical region. TSH 0.8 FT4 1.71. Thyroglobulin (TG) 13.98 and AntiTG 400.
One year later, new total body scan was negative. TG 10,3 and antiTG 816. New thyroid US showed group III cervical adenopathy 4x7x3mm. Biopsy was compatible with metastasis of papillary thyroid carcinoma. The patient is awaiting a new surgery for lymph node dissection.
CONCLUSION
Sistrunk surgery and total thyroidectomy plus lymphadenectomy should be the treatment of choice in thyroid cancer in TD, followed by ablative therapy. This attitude improves long-term follow-up and reduces the risk of recurrence.
BIBLIOGRAPHY
1.
Granado A, et al. Cáncer del conducto tirogloso. Acta Chir Catal, 8 (1987), 37-44
2.
Echenique E. Thyroid cancer arising in a thyroglossal duct cyst. Cir Esp. 2000 67 (6) 567-71.
SAT-513 Thyroid Disease And Infrared Imaging Of Eyelids
Authors: Luu Shannon , Wu Gloria , Leung Brian , Momen Donia , Lau Chap-Kay K 
Published: May 2020

Abstract
Background: Thyroid eye disease is thought to present as proptosis and/or severe conjunctival chemosis. Severe dry eye disease and its symptoms of non-specific eye pain and foreign body sensation in the eye can be overlooked as an early biomarker of thyroid disease. New infrared imaging can be used to evaluate dry eye and eyelid gland anatomy. Infrared imaging and detailed history of thyroid eye symptoms may lead to subsequent testing of thyroid function and more referrals to thyroid specialists.
Purpose: Using infrared photography to evaluate dry eye complaints in patients: do they have thyroid disease?
Methods: A retrospective chart review (2017–2019) of patients with dry eyes, eyelid imaging with infrared photography and thyroid lab testing was performed. Infrared photography with 820 nm wavelength (Heidelberg Spectralis, Heidelberg, Germany). Percentage loss of Meibomian glands was identified for each eye, then analyzed, per patient. The control population consisted of patients with no dry eye complaints, no thyroid testing or thyroid history. Exclusion criteria: patients over the age of 90 years and patients with a history of glaucoma, diabetes, cataract surgery, and eyelid surgery. Age matching was done (±5 years).
Results: n=48 patients, avg age=57.73 years (sd=16.81, range 21–85 years). Thyroid patients: n=24 patients, male=10, female=14, avg age= 57.12 years (sd=16.65, med=55.5, range 23–83 years). Controls: n=24 patients, male=9, female=15, avg age=58.33 years (sd=17.30, med=58, range 21–85 years). Loss of Meibomian glands: thyroid=40.94%, control=5.10% (p&lt;0.0001, t-test). Dry eye complaints: thyroid = 16/24, control = 0/24 (p&lt;0.0001, x2).
Discussion: Meibomian glands are glands in the upper and lower eyelids. These glands provide the lipid component of the tear film, thus slowing the evaporation of the tears and stabilizing the tear film with each blink. Meibomian gland loss would explain the dry eye symptoms in an abnormal thyroid patient population. Infrared photography can be performed with a #87 camera lens filter (cost = $65). The loss of Meibomian glands may be an early sign for thyroid disease.
Conclusion: Infrared photography may be helpful in identifying severe dry eye, thus leading to increased awareness of thyroid eye disease symptoms in our patients in ophthalmology, endocrinology, and primary care.
SAT-428 Sex-Specific Risk Gene of Graves’ Disease
Authors: Zhao Shuangxia , Chen-Yan Yan 
Published: May 2020

Abstract
Graves’ disease is one of the most common forms of autoimmune thyroid disease, with several susceptibility single nucleotide polymorphisms identified by the case-control association studies. In this study, we aim to determine whether any observed differences in genetic associations are influenced by sex in Chinese Han populations. A total of 8,835 patients with Graves’ disease and 9,936 sex-matched healthy controls were enrolled in the study. We conducted sex specific analysis among 20 Graves’ disease susceptibility loci confirmed by two-stage association analysis. A significant sex-gene interaction was detected primarily at rs5912838 on Xq21.1 between the GPR174 and ITM2A gene, whereby men patients with Graves’ disease possessed a significantly higher frequency of risk alleles than women. Interestingly, men patients with Graves’ disease had a higher cumulative genetic risk than women. Our findings suggest one potential sex-specific link of Graves’ disease on Xq21.1, which could increase our understanding of the pivotal mechanisms behind Graves’ disease and ultimately the provision of possible therapeutic targets.