bluuebunny/crossref_metadata_2025_split huggingface dataset:
PSUN23 Clinical and Surgery Approach in Pheocromocytomas: A Cross-Sectional Study at a Referral Center in Ecuador
Authors: Vega Jorge Salazar , Estrada Mariela Villagomez , Pazmino Paola Solis , Urbaez Rossana Ruiz , Herrera Gabriela Torres , Koupermann Gabriela Jaramillo , Silva Carlos Reyes , Otañez Veronica Remache , Guadalupe Ramiro , Velandria Francisco Garcia 
Published: November 2022

Abstract

Background
An annual incidence of pheochromocytoma (PHEO) has been reported between 0.4 to 9.5 cases per million inhabitants and a prevalence of 2.13 per 100 000 people. More than 40% of patients have a genetic predisposition, and its presentation is heterogeneous, from incidental findings (10-49%) to prominent clinical pictures attributable to hypersecretion of catecholamines. The epidemiological and descriptive studies referring to pheochromocytomas in South America are scarce. This study aimed to show a retrospective analysis of patients with pheochromocytomas attending in a cancer referral center to determine the clinical, histology, and surgery outcomes.

Methods
From January 2015 to December 2021, a cross-sectional study was conducted in a regional reference public hospital for endocrine neoplasia in adults. We identified the clinical manifestations, pharmacologic and surgical treatment modalities from a patient interview and review of clinical records.

Results
Twelve patients were included, with a mean age of 44.9 (SD 10.5) years old. Around 58.3% (n=7) of the patients were male, and 16.6% (n=2) had a family history of MEN2A. Clinical characteristics of PHEO were identified in 83.3% (n=10) of the patients. The most common clinical presentation included: hypertension 10/12, palpitations and headache 9/12, diaphoresis and dyspnea 8/12, abdominal pain, nausea, and vomiting 7/12, and sensation of heat and dizziness 6/12. The classic triad of headache, palpitations, and sweating was observed in 8 patients. The CT image revealed adrenal tumors in the left (n=7/12), right (n=4/12), and one bilateral. The mean tumor diameter was 70.5 mm (SD +39.8 range 38 - 180 mm), and 91.7% of the patients (n=11/12) had tumors ≥ 4 cm. Most of the patients, 54.5%, underwent a laparoscopy procedure (n=6/11). In 2 cases, the procedure was converted to open surgery. The mean operative time was 201 ± 77.2 min. After surgery, all patients were admitted to the intensive care unit, where 75% (n=9/11) required vasoactive therapy with satisfactory recovery. The postoperative outcome showed 81.8% with normal blood pressure (n=9/11).

Conclusion
Most patients presenting to our hospital had large intra-abdominal tumors with a high cure rate and low mortality. Accurate diagnosis and optimal treatment are best achieved at 'centers of excellence' with expert multidisciplinary teams.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
PSUN27 Largest Cohort of Cervical Spine Metastases of Pheochromocytoma/Paraganglioma in the Setting of SDHB Mutation
Authors: Pacak Karel , Prodanov Tamara , Jha Abhishek , Patel Mayank , Talvacchio Sara 
Published: November 2022

Abstract

Background
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from chromaffin cells in adrenal or extra-adrenal locations, respectively. Overall, 10 to 20% of PPGLs are metastatic, with higher metastatic potential observed in succinate dehydrogenase subunit B (SDHB)-related tumors (up to 90%). Metastatic PPGLs are diagnosed based on the presence of tumor cells of chromaffin origin in a location outside the site of normal development (adrenal medulla and the sympathetic chain) in the bones and lymphatic nodes per 2017 WHO guidelines. Studies evaluating both metastatic pheochromocytomas and extra-adrenal PGLs have reported bone to be the most common site of metastasis.

Clinical Case
We reviewed the metastatic patients in our PPGL cohort and found 40 (29.85%) out of 134 patients with SDHB-related metastatic PPGLs developing metastatic lesions in the cervical spine. The related descriptive analyses were as follows: 25 (62.5%) were males, 15 (37.5%) females. Fourteen patients (35%) have died due to metastatic PPGL complications. The average age of patients at the time of the primary tumor diagnosis was 30.3 ± 35 years and the age at the initial metastatic tumor diagnosis was 34 ± 33 years. The average time interval to metastatic disease was 7.4 ± 38 years.
At their initial presentation, there were 25 (62.5%) patients with solitary tumors; 1 (2.5%) with multiple primary tumors; and 14 (35%) with metastatic tumors. All the patients either developed or had metastatic lesions in the cervical vertebrae. Nine (22.5%) patients required surgical fusions of the vertebrae to manage their pathological fractures and another 9 (22.5%) patients received radiation therapy.

Conclusion
Genetic testing is recommended for all patients with PPGLs. Genetic analysis, especially finding a SDHB mutation may be helpful in determining metastatic potential. Most patients with spinal metastatic lesions are asymptomatic, but when clinical symptoms arise, the most common clinical symptom involves pain and neurological deficit. Metastasis to the spine is an important complication that can lead to significant pain and disability and requires surgical interventions or radiotherapy. Awareness for such spinal tumors is essential for offering the correct treatment to the patients.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
RF09 | PSUN06 ARMC5 as a possible regulator of acetylation in the adrenal cortex in partnership with SIRT1
Authors: Berthon Annabel , Faucz Fabio , Feldman Benjamin , Drougat Ludivine , Espiard Stephanie , Cavalcante Isadora , Ragazzon Bruno , Bertherat Jérôme , Stratakis Constantine 
Published: November 2022

Abstract
ARMC5 is a tumor suppressor gene responsible for 20 to 40% of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) with a function that remains unclear. Based on pathway analysis from RNAseq results obtained on zebrafish models of transient Armc5 up- and down-regulation, we identified transcriptional alterations of several members of SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1) signaling in our models and hypothesized that ARMC5 can regulate SIRT1 and its signaling in adrenocortical cells. Accordingly, the expression of the desacetylase SIRT1 is significantly increased in PBMAH tissues mutated for ARMC5 compared to tumors without mutations. However, this overexpression of SIRT1 is associated with an elevation of the profile of acetylated protein in the absence of ARMC5 suggesting that SIRT1 activity is actually decreased and that SIRT1 expression could increase to maintain its activity. Consistently, the measurement of SIRT activity on PBMAH tissues demonstrate a decrease of its activity when ARMC5 is mutated. Similar results are obtained in adrenal cells of 18-month-old Armc5+/- mice that are also hyper-corticosteronemic. Altogether, these data support that ARMC5 could regulate SIRT1 expression and/or activity. In vitro measurement of purified SIRT1 activity in the presence of ARMC5-enriched protein extracts demonstrated that the presence of ARMC5 protein does indeed alter SIRT1 activity. We hypothesize, therefore, that ARMC5 may be a new regulator of SIRT1 function but the underlying mechanism and the consequences of abnormal acetylated proteins on adrenocortical function require further investigation.
Presentation: Saturday, June 11, 2022 1:36 p.m. - 1:41 p.m., Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
RF19 | PSUN33 Adrenocortical Carcinoma as a Rare Manifestation of Birt-Hogg-Dubé Syndrome
Authors: Else Tobias , Habra Mouhammed , Hamidi Oksana , Hammer Gary D , Murvelashvili Natia , Osborne Jenae , Wolf Katherine 
Published: November 2022

Abstract
Adrenocortical carcinoma (ACC) can occur as part of hereditary cancer syndromes, particularly Lynch syndrome and Li-Fraumeni syndrome. Here we describe 5 patients (3 women) with adrenal tumors and Birt-Hogg-Dubé syndrome (BHDS). BHDS is a hereditary tumor syndrome characterized by fibrofolliculomas/trichodiscomas, renal tumors, lung cysts, and spontaneous pneumothoraces.
All five patients had a confirmed germline FLCN pathogenic variant. One case was previously reported by our institution. Age of diagnosis (AD) ranged from 36 to 62 years with a mean AD of 46 years. All patients identified as Caucasian. Three patients had non-functioning adrenal tumors, while the remaining two patients did not undergo biochemical assessment preoperatively but did not have symptoms or history of adrenal hormone excess.
Histologically, four patients had confirmed ACC while one had an adrenocortical tumor of uncertain malignant potential, most consistent with an oncocytoma. All patients were initially treated with mitotane. Three patients developed metastatic disease requiring additional systemic chemotherapy, immunotherapy, and/or radiation.
A total of 8 confirmed ACCs in patients with BHDS have been reported to date, raising suspicions that these tumors might be a part of the BHDS tumor spectrum. When BHDS patients are screened for renal malignancies, special attention should be paid to the adrenal glands. Adrenal nodules should undergo prompt assessment as &gt;50% of reported cases developed metastatic disease. Given possible association with BHDS, testing for FLCN pathogenic variants should be considered during the genetic evaluation of patients with ACC.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m., Sunday, June 12, 2022 12:54 p.m. - 12:59 p.m.
RF21 | PSAT93 Improvement of Final Height in Congenital Adrenal Hyperplasia Patients Treated With Recombinant Growth Hormone
Authors: Costa Fernanda C , de Sousa Donaldt L , Madureira Guiomar , Mathias Patrícia M B R , Mendonca Berenice B , Miranda Mirela C , Silva Mylena C M , Bachega Tânia A S S 
Published: November 2022

Abstract

Final height (FH) in congenital adrenal hyperplasia (CAH) patients is frequently under -1.5 SDS in relation to the normal population, even in those with good compliance, chronic androgen exposure or supraphysiological glucocorticoid doses could corroborate to this finding. Recombinant human growth hormone (GH) has been used as adjuvant therapy to improve FH in many disorders, but there are scarce data in CAH patients.

Objective
to analyze the effect of GH therapy on final height of CAH patients with compromised height prediction.

Patients and Methods
data of 26 patients (7F/19M) were retrospectively evaluated: 10 salt wasting-SW, 11 simple virilizing-SV and 5 with nonclassical form-NC. The SW patients were diagnosed at the neonatal period, SV and NC patients at mean chronological age of 3.6±2 and 7.2±3.8 yrs, respectively. All patients received cortisone acetate, hydrocortisone equivalent dose of 12.6±6.6 mg/m2/day in classical and 8.24±4.7 mg/m2/day in NC form; SW patients also received fludrocortisone 36±9.6mcg/m2/day. Near final height (NFH) was considered as BA of 13yrs for girls and 15yrs for boys; height and target height (TH) were described as SDS. All patients presented hormonal/molecular CAH diagnosis. The t test was used in the statistical analysis.

Results
Mean chronological and bone age (BA) at the beginning of GH therapy was 9.0±2.4 and 12.3±2yrs, respectively, mean duration of GH therapy was 4.1±1.9yrs and daily dose was 0.15 UI/kg/day. All patients were submitted to pubertal blockage with leuprorelin acetate 11.25 mg each 3 months during 3.9±1.1yrs or cyproterone acetate, mean dose 70±19 mg/m2/d during 4.7±2.5yrs. At the last evaluation, 19 patients (14M/5F) achieved FH: at the beginning of GH therapy mean H/BA in males was -2.1±0.38 and after -0.65±1 SDS (p&lt;0.001). Mean FH in males was 165.7±5.9 cm and mean TH 170.7±8 cm (p&gt;0.05); the TH-FH was -0.6±1.2 SDS. Among females, mean H/BA at the beginning of GH therapy was -2.2±0.7 and after -0.84±0.9 SDS (p=0.01). Mean FH in females was 156±8 cm, mean TH was 160±5.8cm (p&gt;0.05); the TH-FH was -0.6±0.7 SDS. Considering patients with FH and NFH, the FH-TH in males was 0.4±0.2 SDS and -0.15±0.9 SDS in females. An improvement of approximately 12.7cm in males and 12.4cm in females was observed. No patient presented hypertension and 7/26 patients presented insulin resistance, which normalized after GH withdrawal.

Conclusion
we observed that GH therapy associated with puberty blockers allowed the achievement of final height in the expected range of target height, without significant side effects.
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.
RF33 | PSUN01 Clinical Course of Benign Adrenal Cysts: A Single-Center Experience of 90 Patients
Authors: Young William F , Dogra Prerna , Rivera Michael , McKenzie Travis , Lyden Melanie , Foster Trenton , Dy Benzon , Bancos Irina 
Published: November 2022

Abstract

Introduction
Benign adrenal cysts (BACs) comprise 1% of adrenal incidentalomas. Scarce data are available to guide hormonal evaluation and management. We aimed to describe the clinical presentation, imaging characteristics and outcomes of patients with BACs.

Methods
This was a single center retrospective study of patients with histologically or radiologically confirmed BACs evaluated between 1995-2021. Other cystic adrenal lesions (such as cystic pheochromocytoma and adrenocortical cancer) were excluded. Medical records were reviewed for clinical, biochemical, radiological, and surgical information. Subgroup analyses based on surgical versus nonsurgical management was performed.

Results
BACs were diagnosed in 92 patients (53, 57% women) at a median age of 45 years. Mode of discovery was incidental on imaging in 81 (88%), symptoms of mass effect in 9 (9.8%), and other in 2 (2.2%). Majority (89, 97%) of patients had unilateral cysts (45 right, 44 left) with a median size of 48 mm (range 4-200) at diagnosis. On imaging, most cysts were round/oval (85.4%), homogenous (83.2%) lesions with calcifications (64.0%) and no vascular enhancement (97.7%). During a median follow-up of 65 months (range 7-288), adrenal cysts demonstrated minimal enlargement (median size change 6 mm, median growth rate 2 mm/year).Age of diagnosis, sex, site and initial size of BAC were not associated with an increase in size during follow up. On hormonal evaluation, 10% (5/50 tested) had an abnormal overnight dexamethasone suppression test, and 9.5% (4/42 tested) had an abnormal case detection testing for primary aldosteronism. Adrenalectomy was performed in 46 (51%) patients. Patients treated with adrenalectomy (46, 50%) were younger (36.9 vs 50.8 years, P=0.0009) and had more rapidly enlarging cysts (median growth rate 5.5 vs 0.4 mm/year, P=0.0002).

Conclusions
BACs are usually incidentally discovered and nonfunctional lesions with excellent prognosis, irrespective of management. On imaging, benign adrenal cysts appear as large, homogenous lesions without vascular enhancement that demonstrate slow growth. Adrenalectomy should be reserved for the minority of patients with abnormal hormonal evaluation or imaging characteristics (heterogenous, vascular enhancement) concerning for an alternate etiology, or those who develop symptoms of mass effect.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m., Monday, June 13, 2022 12:42 p.m. - 12:47 p.m.
ODP595 Case Series Of Idiopathic Hypercalciuria And Secondary Osteoporosis
Authors: Mirza Fayal , Faisal Sobia , Azmath Misbah 
Published: November 2022

Abstract

Background
Secondary causes for low bone density may be present in 30% of women and up to 50% of men with low bone density and osteoporosis. Idiopathic hypercalciuria is associated with lower bone density and higher bone turnover, and an increased risk of fractures. Thiazide diuretics have been used often for treatment for idiopathic hypercalciuriaCase Series: We present a case series of 9 patients who presented for low or declining bone density. They underwent workup for secondary causes of osteoporosis and were noted to have idiopathic hypercalciuria with high bone turnover on initial evaluation. They were started on thiazide diuretics or amiloride and the dose titrated up daily based on their blood pressure tolerance. They were monitored for hypokalemia and hyponatremia. Several of these patients exhibited a &gt; 30% decrease in bone resorption, as measured by urine N-telopeptide on a second fasting specimen. Follow-up bone density at 1 year and 3-year after starting diuretic therapy showed stability or significant increase in bone density. Some of these patients were able to maintain bone density in the osteopenic range on follow up for &gt; 6 years.

Conclusion
Some patients with idiopathic hypercalciuria may have a more robust response to thiazide diuretics compared to others even in the absence of anti-resorptive therapy. Significant reduction of &gt; 30% in bone resorption markers may identify patients who are more likely to have a robust response in the bone density after starting thiazide medications.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
ODP069 A Clinical audit on the diagnosis and management of Vitamin D Deficiency at Scarborough General Hospital, United Kingdom
Authors: Abraham Santhosh , Patel Ramesh , Humphriss David , Pawlak Tadeusz , Ssemmondo Emmanuel 
Published: November 2022

Abstract

Introduction
A rising problem in the United Kingdom, Vitamin D deficiency is common in the elderly due to inadequate sunlight exposure and poor intake. Vitamin D deficiency is defined as 25-OH Vitamin D levels less than 30nmol/L.

Objectives
The principal aim of this audit was to ascertain how close and efficiently the patients were managed with Vitamin D deficiency at Scarborough General Hospital when compared to the York NHS Trust guidelines. Another goal was to have a consensus with regards to improving our practices in the management of Vitamin D deficiency.

Methodology
Data was collected retrospectively over 12 months (2020 March to 2021 March) on adults attending the General Hospital as outpatients as well as those who were admitted as inpatients. The questionnaire proforma for the audit was based on guidelines recommended by York Trust. A total of 30 cases were randomly chosen and data were sought from case notes and Electronic health care records. Data were analyzed by Microsoft Excel.

Results
This audit showed that 64% met the criteria for testing, 3% did not meet it and in 33% of cases it was not documented. Chronic wide spread pain (53%) was the most common factor that prompted vitamin D testing in the group who met the criteria. 67% had a vitamin D level between 20 and 29 nmol/mL while 33% had a level between 10 and 19 nmol/mL. Most of them (80%) were symptomatic; in 17% no symptoms were documented. Serum Calcium was normal in 77% and Serum Phosphate was normal in 73% of cases. The loading dose of Vitamin D was 50,000 IU for 6 weeks in 70% of the patients and in 70% the duration of the loading dose was 6 week. In 57% of the cases, Calcium supplementation was not required. In those who were prescribed with Calcium, 85% had them rechecked in the follow up visits. In the follow up visits, Vitamin D level was checked in only 53% of cases, in 40% cases it was unknown and in 7% cases it was not done. The advice to the GP did not include patient recommendations about regular exposure to sunlight and dietary sources as recommended by the guideline.

Conclusion
Chronic pain was the single best reason for Vitamin D testing and most of the patients were symptomatic which emphasizes Vitamin D deficiency to be considered especially in the elderly population. In addition to the routine information given to the GP it will be good to reiterate dietary management and regular exposure to sunlight as this helps in augmenting Vitamin D apart from supplementation. As a significant proportion received inadequate follow up it is important to follow up with rechecks including vitamin D levels.
Presentation: No date and time listed
ODP070 A deep learning-based osteopenia and osteoporosis screening system with lateral lumbar spine X-ray in women aged 50 years or older and men aged 60 years or older
Authors: Chung Yoon-Sok , Noh Sung Hyun , Kim Bum Taek , Kong Sung Hye , Kim Jung Hee , Park Sung Bae , Yoon Hongjun , Choi Jong Mun , Kim Taegyu 
Published: November 2022

Abstract
Bone mineral density (BMD) measured by Dual-energy X-ray absorptiometry (DXA) is the gold standard to diagnose osteopenia or osteoporosis. However, this method is not always available and underutilized to screen for osteoporosis. An artificial intelligence system using plain radiography is suggested in this study to enable easy and convenient prediction. This study is conducted on Korean women and men with data derived from two university hospitals (Ajou University and Seoul National University). Retrospective data from the years 2005 to 2021 with 20,100 subjects (women 60%) were analyzed. GE Healthcare and Hologic DXA, and lumbar spine lateral X-rays were used for performance, approved by the Institutional Review Boards. Inappropriate vertebral segments (compression fracture, degenerative change, etc.) were excluded from the analysis. A total of 79,400 lumbar spine segments (L1, L2, L3, and L4) were extracted from lumbar spine BMD data are compared and analyzed. BMD is classified into three categories: normal, osteopenia, and osteoporosis by World Health Organization criteria. 34% of segments are classified with osteopenia, and 24% osteoporosis. The area under the curve of the receiver operating characteristic of training results of deep learning artificial intelligence demonstrates predictability for osteopenia of 82% and osteoporosis of 95%. A deep learning algorithm may be regarded as one of the valuable and accessible screening methods for predicting osteopenia and osteoporosis with plain X-rays in clinical settings. This study was supported by funding from the National Information Society Agency and the Ministry of Science and ICT of the Republic of Korea.
Presentation: No date and time listed
ODP071 A Fit of Hypophosphatemia
Authors: Naha Sowjanya , Salam Waqar 
Published: November 2022

Abstract

Background
Hypophosphatemia is a commonly encountered electrolyte disturbance that is seen in association with a broad range of disorders. Severe hypophosphatemia can be life threatening and is known to cause seizures. Clinical case: A 65 year old female was found down at home by emergency medical services. She was noted to be frothing and had irregular breathing. She was still confused when she was brought to the emergency department but had no focal neurological deficits on examination. Her mentation subsequently improved without intervention. Her past history was notable for a left parafalcine meningioma which was resected in 2019. Her vital signs were stable at presentation. Laboratory evaluation showed critically low phosphate (0.6 mg/dL, n: 2.5-4.5 mg/dL); other electrolytes including sodium, potassium, calcium and magnesium levels were all normal. Additional work up showed slightly elevated parathyroid hormone level (86.8 pg/mL, n: 15-65 pg/mL), borderline low vitamin D (29.5 ng/mL, n: 30-80 ng/mL) and elevated lactate (2.9 mmol/L, n: 0.5-2.2 mmol/L). The patient was immediately treated with 45 mmol of IV sodium phosphate. Repeat serum phosphate showed rapid normalization and the patient was ultimately discharged without any phosphate supplements. Repeat serum phosphate three months later was normal.

Conclusion
Although severe hypophosphatemia is known to precipitate seizures, seizure activity itself can induce transient hypophosphatemia. In fact, hypophosphatemia has been proposed as a means to diagnose convulsive seizures and distinguish them from syncopal episodes. Transcellular shift has been proposed as a mechanism to explain this phenomenon. In this case, we believe the patient developed seizures as a sequela of brain surgery and that hypophosphatemia developed as an epiphenomenon. Rapid resolution of hypophosphatemia after cessation of seizures and absence of a credible alternative cause should alert physicians to the possibility of this effect.
Presentation: No date and time listed