bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-381 Adjunct Benefit of Aquatic Therapy in Juvenile Hypophosphatasia Initiated in an Adult
Authors: Khan Abdul Mannan , Lightell James , Majors Corey 
Published: May 2020

Abstract
Background: This is a case of improvement in visual analog scale pain rating and objective functional capacity in juvenile hypophosphatasia (HPP) following treatment with asfotase alfa and adjunct physical therapy (PT) performed in an aquatic environment. Clinical Case: A 45-year-old female with a history of psoriatic arthritis and osteoarthritis was referred for low serum alkaline phosphatase (ALKP) (&lt;10 U/L). Her history of eight fractures over the preceding 25 years including bilateral femur nonunion repaired with rods eight years prior to presentation led to a diagnosis of juvenile HPP, and asfostase alfa was ordered. She is ambulatory only with a rolling walker from a deficit in dynamic standing balance and chronic pain. Referrals were made for both PT and pain management for these symptoms. The initial PT evaluation established reasonable goals to include the performance of in-home exercise, increase strength and range of motion, decrease pain, improve standing balance, and progress from walker to cane. Aquatic therapy was chosen in order to reduce patient’s effective weight. The right hip complex, lumbar spine, and left leg were chosen as areas of focus based on pain reports. A four-week follow-up evaluation by the therapist reported patient had been performing at home exercises. Pain scale reports of the lumbar spine, right hip, and left leg were within the moderate range and near or meeting the patient’s self-reported least pain experienced. Goniometric measurements of the right hip showed range of motion improvements averaging 9%. The lumbar spine’s range of motion increased an average of 18%. Discussion: HPP is capable of creating severe disability, and its rarity has led to a dearth of investigation into appropriate treatment. Recommendations have been made previously for PT in children and infants presenting with juvenile or infantile HPP; this case suggests these recommendations are applicable to adults as well. The mechanisms of these improvements remain unclear; however, evidence exists that weight-bearing exercise may result in increased levels of bone-specific isoforms of ALKP. This endogenous path to increased serum ALKP may play a role in potentiating the effects of asfostase alfa. 1. Shapiro JR, Lewiecki EM. Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations. Journal of Bone and Mineral Research 2017;32(10):1977–1980. 2. Phillips D, Case LE, Griffin D, Hamilton K, Lara SL, Leiro B, Monfreda J, Westlake E, Kishnani PS. Physical therapy management of infants and children with hypophosphatasia. Molecular Genetics and Metabolism 2016;119(1–2):14–19. 3. Rudberg A, Magnusson P, Larsson L, Joborn H. Serum Isoforms of Bone Alkaline Phosphatase Increase During Physical Exercise in Women. Calcified Tissue International 2000;66(5):342–347.
MON-276 Post-Surgical Metabolic Outcomes in Adult-Onset Craniopharyngioma: A Single Pituitary Center Experience
Authors: Duan Daisy , Wehbeh Leen , Mukherjee Debraj , Hamrahian Amir H , Ahima Rexford S , Maruthur Nisa M , Salvatori Roberto 
Published: May 2020

Abstract
Background:
Craniopharyngiomas, while benign, have the highest morbidity of all pituitary tumors. Hypothalamic obesity (HO), one of the most devastating consequences, is commonly studied in the pediatric population, but few data are available on weight and other metabolic outcomes in adult-onset craniopharyngiomas (AOCP).
Methods:
We conducted a retrospective chart review of 49 adult patients with AOCP who underwent surgery between 1/2014 and 5/2019 at an academic pituitary center. Weight, BMI, metabolic diseases (type 2 diabetes, hypertension, hyperlipidemia, cardiovascular disease, OSA), and pituitary hormone deficiencies were recorded pre-surgery and at last follow up and analyzed using paired t-tests or McNemar’s test.
Results:
Median age was 56 years (51% women), 45% had &gt;1 surgery (range 1-5), and 49% had radiotherapy. Of 72 total surgeries, 54% were craniotomies and 68% of surgeries resulted in subtotal resections. Median follow up was 25 months. Median BMI was 29.2 and 30.5 kg/m2 at baseline and at last follow up, respectively. Weight was higher at last follow up (mean increase 2.7 kg; p=0.043), with an average of 4% weight gain. Patients with baseline normal and overweight BMI had significant weight gain (mean increase 5.1 kg, p=0.045; mean increase 5.5 kg, p=0.015 respectively), while those who were obese at baseline did not (mean increase 2.0 kg, p=0.302). The proportion of patients with obesity (BMI&gt;30) increased from 37% to 53% (p=0.008). 31% of patients had &gt;5% weight gain, with mean increase in BMI of 4.1 kg/m2 (p&lt;0.0001) and mean weight gain of 13.1 kg (p&lt;0.0001). 24.5% had an increase in the total number of metabolic diseases (p=0.07). Of 43 patients who were overweight or obese at last follow up, obesity was addressed in 51%, most commonly through lifestyle counseling (49%) and adjustment of hormone replacement in response to weight gain (23%). Two patients had bariatric surgery within one year of pituitary surgery. The proportion of patients with ≥3 hormone deficiencies increased from 18% to 55% (p=0.0003). At last follow-up, only one patient had GHD, diagnosed by low age-adjusted IGF-1 level. 14 of 15 patients with ≥3 hormone deficiencies had normal age-adjusted IGF-1 levels and one patient had normal GH provocative testing.
Conclusion:
Weight significantly increased after surgery for AOCP, with mean weight gain of 4%. 31% of patients had a marked increase in BMI and weight, suggesting possible HO. GHD is likely under-diagnosed in AOCP, and IGF-1 may not be a sensitive tool. Obesity-directed treatment is under-utilized in this patient population.
SUN-905 A Case of Adrenal Cushings a Primary Hyperparathyroidism
Authors: Davern Recie , Bell Marcia 
Published: May 2020

Abstract
We present the case of a 31 year old female referred with weight gain, secondary amenorrhea, facial plethora and buffalo hump x6-9/12. Background medical history of caesarean section. She was on no regular medications. She rarely consumed alcohol. There was no relevant family history.
She experienced secondary amenorrhea x6/12. Her menarche was at the age of 14 and had regular periods thereafter. She had gained 13kg over the previous 9/12. Examination revealed an intrascapular fat pad, abdominal striae and facial plethora. Her BP was 150/87.
Initial investigations were as follows: Overnight DST: Cortisol 642 nmol/L, DHEAS &lt;0.4 µmol/L, hCG &lt;1 U/L, TSH 0.71 mIU/L, FT4 15.1 pmol/L, Prolactin 380 mIU/L, IGF-I 152 µg/L, FSH 4.4 IU/L, LH 3.0 IU/L, oestradiol &lt;100 pmol/L, 17-OH Progesterone &lt;1.0 nmol/L. She then underwent a low dose 48 hour dexamethasone suppression test the results showed: Cortisol Day 1(time 0) 704 nmol/L, Day 2 (time 24 hours) 702nmol/L, Day 3 (time 48 hours) 703 nmol/L and paired ACTH 1.4ng/L.
She was admitted from clinic with BP 189/107 and was started on metyrapone and ramipril. On this admission her bloods showed calcium 2.70 mmol/L, iPTH 113.5 ng/L, 25 (OH) D27nmol/L. Ct abdomen and pelvis revealed a 3.3x2.2 cm right adrenal lesion with hounsfeld units &lt;10 and unremarkable left adrenal. ARR, plasma metanephrines and HbA1c were all normal. The case was discussed at MDM and referred for retroperitoneal laprascopic right adrenalectomy. She was discharged day 2 post op off anti hypertensives and on hydrocortisone 10mg/5mg/5mg. Histology confirmed adrenocortical adenoma and Ki67 &lt;5%.
Synacthen test done one month post operatively showed time 0 cortisol 35 nmol/L, time 30 cortisol 56 nmol/L, time 60 cortisol 60 nmol/L and time 0 ACTH 51 ng/L. Post operatively her menses returned.
When vitamin D replete, we re-evaluated her hypercalcemia. This revealed 2.77 mmol/L, iPTH 100.7ng/L, calcium: creatinine ratio 0.72 mmol/mol. She had an ultrasound neck and sestamibi which both lateralised to right lower lobe of thyroid. A synacthen test was repeated which revealed time 0 cortisol 183 nmol/L and ACTH 44 ng/L, time 30 cortisol 258 nmol/L and time 60 cortisol 302 nmol/L. She was referred for 4 gland exploration with intra operative PTH. Her baseline intra operative PTH was 193 ng/L and her 10 minute post excision value was 55 ng/L which demonstrates a 65% drop in concentration and intra operative PTH returned to within the reference interval.
The histology was atypical displaying extension of the tumour through the capsule and possible vascular extension. Ki 67 was &lt;2%. It has been sent to St. Guy’s and Thomas’ for a second opinion. Her calcium and iPTH returned to normal post operatively. MEN1 and CDKN1B genes were negative. We’re awaiting gene sequencing on the following - RET, CDC73, CASR, CDKNIA, CDKN2C AND CDKN2B. This case represents a case of multiple endocrinopathies with no found genetic link.
SUN-294 The Effects of Traumatic Brain Injury on Pituitary Function: A Systematic Review and Meta-Analysis
Authors: Beyer Christian , Zaytsev Julia , Donegan Diane , Bancos Irina , Hamidi Oksana 
Published: May 2020

Abstract
Background: The impact of traumatic brain injury (TBI) on pituitary function remains unclear. Yet, applying appropriate diagnostic and treatment strategies for affected patients is crucial for mitigating morbidity related to hypopituitarism and improving patient outcomes. Currently, data regarding the prevalence of post-TBI hypopituitarism and its predisposing factors are inconsistent. The goals of this systematic review and meta-analysis were to evaluate the prevalence of acute and chronic post-TBI hypopituitarism and assess for predictors of pituitary dysfunction.
Methods: Ovid MEDLINE In-Process & Other Non-Indexed Citations, Ovid MEDLINE, Ovid EMBASE, Ovid Cochrane Central Register of Controlled Trials, Ovid Cochrane Database of Systematic Reviews, Scopus, Web of Science, and references of key articles were searched from inception to 2019. Studies enrolling ≥20 adult patients with TBI and reporting on pituitary dysfunction were included. A total of 992 studies were generated by the initial search. Titles and abstracts were screened in duplicate by two independent reviewers for inclusion criteria. Of these, 265 full text manuscripts were subsequently reviewed for eligibility. Predefined data were extracted from 14 representative studies for the preliminary analysis (7 cross-sectional studies, 6 prospective studies, and 1 retrospective study).
Results: There was a total of 813 (78% male) patients with TBI. Of those with available data, 124/248 (50.0%) had mild TBI, 112/476 (23.5%) had moderate TBI, and 308/569 (54.1%) had severe TBI. Mean age at TBI diagnosis was 34.2±4.6 years, with time to evaluation of pituitary function following TBI ranging from 0 days to 120 months (mean, 27.1±35.1 months). Acute and chronic hypopituitarism was reported in 10.7% and 19.6% of patients, respectively. TBI was associated with increased risk for hypopituitarism compared to the general population (RR=765.8, 95% CI 538.8-1088.5). Secondary hypogonadism was noted in 15.7% of patients, growth hormone deficiency in 15.7%, secondary adrenal insufficiency in 11.6%, secondary hypothyroidism in 8.7%, and diabetes insipidus in 0.2%. Older age (40.4±5.5 vs 36.7±1.0 years, P&lt;0.0001) and higher BMI (25.0±0.7 vs 23.9±0.2 kg/m2, P&lt;0.0001) were associated with increased risk of post-TBI hypopituitarism.
Conclusion: Available moderate- to low-quality evidence suggests that post-TBI hypopituitarism is common and correlates with older age and higher BMI. Secondary hypogonadism and growth hormone deficiency are the most predominant pituitary deficiencies. Further investigations are warranted to determine the most effective strategies for identifying patients at risk for post-TBI hypopituitarism in order to implement prompt assessment and management.
MON-908 Carcinoid Causing Catastrophic Calcemia
Authors: Franquemont Stephanie , Allemon Ashely , Archuleta Travis , Mathew Jacob 
Published: May 2020

Abstract
Intro: Carcinoid tumors are rare, slow growing, indolent neuroendocrine tumors typically originating from enterochromaffin in the gastrointestinal tract and bronchopulmonary tree1. While often found to be secreting serotonin, many different secretory products have been described2. We present the case of a patient with refractory hypercalcemia due to a carcinoid tumor producing parathyroid hormone related peptide (PTHrP). Case: A 65-year-old male was found to have hypercalcemia of 14.7 mg/dL after presenting for nausea and vomiting. He was treated with Zolendronic acid and intravenous (IV) fluids as initial work-up revealed an appropriately suppressed parathyroid hormone level, no monoclonal spike, and a PTHrP that was dramatically elevated. He refused further work-up initially but was admitted two months later for persistent severe hypercalcemia. Computed tomography imaging showed innumerable liver lesions. Histologic analysis of the largest liver lesion was consistent with carcinoid tumor. For the next two years, he was managed outpatient with Pamidronate, Denosumab, and Sandostatin, along with two liver embolizations. Control of serum calcium levels became more difficult and he had multiple hospitalizations for symptomatic hypercalcemia until chemotherapy, Sunitinib, was initiated. Calcium levels normalized for one year after starting Sunitinib prior to onset of suspected medication-induced pancreatitis. He was switched to Everolimus but did not respond to that and was readmitted mere weeks later for symptomatic hypercalcemia and a combination of Folinic acid, Fluorouracil, and Oxaliplatin (Folfox) was started. He continued to get frequent bisphosphonates and IV fluids along with Folfox but several months later he stopped responding to all medical options. His calcium level climbed to 19.9mg/dL and he underwent a technically complicated surgical procedure in which significant tumor burden was removed from his liver. Since surgery, the patient has remained normocalcemic without additional medical therapy. Discussion: Carcinoid tumors are uncommon with reported incidence of 40 per one million people2. PTHrP is most commonly produced by squamous cell lung cancer, renal cell cancer, gynecologic cancers, and lymphoma3. Carcinoid tumors producing PTHrP with resultant hypercalcemia is rare with a few cases reported in literature4. Our patient had a complex treatment course including IV fluids, anti-resorptive agents, somatostatin analogs, liver embolization, chemotherapeutic agents, and eventual surgical debulking. Surgical intervention is not commonly required for carcinoid tumors5. This patient had a rare tumor, producing an uncommon hormone, and required extensive treatment. This case shows the importance of a multidisciplinary approach in patients with hypercalcemia secondary to carcinoid tumors but refractory to traditional therapy.
SAT-132 The Secretory Vesicle Membrane Protein, CYB561, Promotes the Growth and Metastatic Potential of Castration-Resistant Neuroendocrine Prostate Cancer
Authors: Olarte Kevin Christian V , Bagamasbad Pia D 
Published: May 2020

Abstract
An increase in the population of neuroendocrine (NE) differentiated (NED) cells and their secretory products are closely correlated with prostate cancer (PCa) resistance to existing therapies and eventual progression to castration-resistant PCa (CRPC). It is hypothesized that NED cells secrete neuropeptides that support tumor growth and induce aggressiveness of adjacent proliferating tumor cells through a paracrine mechanism. A gene that is constitutively expressed in secretory vesicles of NE cells, and has been previously found to be highly expressed in CRPC and cancer of several tissues is Cytochrome b561 (CYB561). The CYB561 gene encodes a secretory vesicle transmembrane protein that primarily functions in the regeneration of ascorbic acid, a necessary step in the α-amidation activation process in the biosynthesis of most neuropeptides. The CYB561 protein also exhibits ferrireductase activity and may contribute in regulating iron transport and metabolism, which are two other pathways often dysregulated in cancer. These findings led us to hypothesize that CYB561 may be a key player in the NE differentiation process that drives the progression of prostate cancers into the more aggressive NE subtype. In our study, we found that CYB561 expression is higher in metastatic and NE PCa (NEPC) models compared to normal prostate epithelia, and that its expression is not affected by androgen treatment or steroid deprivation. Lentiviral-mediated knockdown of CYB561 in the NEPC cell line, PC-3, decreased the expression of genes involved in NE differentiation and labile iron pool storage, decreased cell proliferation, reduced cell survival in a colony formation assay, and slowed down cell migration in a wound-healing assay. Treatment of normal prostate epithelial cells, PNT1A, with conditioned media from CYB561 knockdown PC-3 cells led to a decrease in proliferation rate when compared to treatment of PNT1A cells with media from CYB561 expressing (control) PC-3 cells. Taken together, our findings demonstrate the role of CYB561 in supporting the growth and metastatic potential of NEPC cells, and highlights the potential use of CYB561 as a therapeutic target and biomarker that can be used to identify more aggressive disease.
MON-068 The First Case in Korea, ZC4H2 Gene Mutation in Wieacker-Wolff Syndrome with Recurrent Hypoglycemia
Authors: Lee Gahyun , Kim Sejin , Kang Seokjin , Kim Heungsik 
Published: May 2020

Abstract
Wieacker-Wolff syndrome was first described in 1985 and is a rare congenital syndrome cause by ZC4H2 mutation. It is a X-linked recessive disorder characterized by congenital contracture of the feet, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. 9-years-old boy with brain atrophy, mental retardation, scoliosis, convulsion and exotropia visited our clinic with recurrent hypoglycemia. Hypoglycemia was developed since infant. Physical examination showed dysmorphism and no hepatomegaly. In the ‘critical sample’, ketoacidosis was present and serum levels of free fatty acid was elevated. Lactate was in the normal range. Hyperinsulinism was excluded with ‘critical sample’ and glucagon stimulation test. Combined pituitary stimulation showed no deficiency of growth hormone and cortisol, respectively. Fatty acid oxidation was excluded by serum levels of acylcarnitines and urine organic acid test. Due to the presence of multiple anomaly and under the suspicion of glycogen storage type 0, whole exome sequencing was performed and p.P154T mutation on the ZC4H2 was observed. Although Sanger sequencing is in processing yet, clinical features are very similar compare to previous cases. In summary, we reported a first Korean male with a novel ZC4H2 mutation, P154T.
MON-379 Diagnostically Significant Relationship Between the Results of Determination of Vitamin D3 and Its Metabolites by the EIA Method and Pure Vitamin D3 by the LC-MS Method
Authors: Terushkin Roman , Kalinchenko Svetlana , Smykalova Anastasia , Vorslov Leonid , Nizhnik Aleksander 
Published: May 2020

Abstract
Diagnostically significant relationship between the results of determination of vitamin D3 and its metabolites by the EIA method and pure vitamin D3 by the LC-MS method.
Introduction: Vitamin D is an important hormone in the human body. He is involved in many physiological body processes. Measuring the level of vitamin D in the patient’s blood is important, diagnostic criteria for identifying and confirming a number of diseases: obesity, hypogonadism, sarcopenia, autoimmune pathologies.
Two methods currently prevail in the laboratory diagnostic market measurement of the level of vitamin D3 in blood plasma: EIA and LC-MS (with its variety - LC-MS / MS).Fundamental differences in the physicochemical nature of these methods are the basis for differing results determined in the same sample.
Objective: In this paper, we set the goal of determining how the results correlate for determining vitamin D3 and its metabolites using the EIA method with the results of determination Pure Vitamin D3 through LC-MS / MS.
Materials and methods: The study was conducted at the clinic of Professor Kalinchenko. Have been selected patients with a clinical picture of vitamin D deficiency. These patients were referred to determination of the level of vitamin D3 using the above methods, subject to preparation rules before analysis. EIA was performed using LC-MS / MS was done using AB SCIEX QTRAP 4500 apparatus connected to Waters Acquity UPLC system. The results were combined for subsequent statistical processing. For a pair of EIA / LC-MS methods, we determined the reliability value of the approximation r ^ 2 and the linear regression equation.
Results: For the presented data, the level of vitamin D3 and its metabolites determined by EIA, and pure vitamin D3, determined by LC-MS, r ^ 2 was 0.9638 (very strong dependence), and the linear regression equation was as follows: LC-MS [nm / ml] = 1.2808 * (EIA) [nmol / ml] + 6.9731.
Discussion: Despite studies by foreign colleagues showing a high level bias and low correlation of results between the EIA and LC-MS methods, our data show a very strong relationship between the two values. By our assumptions, the cause of the various findings is monoclonal antibodies, differing in the global market for reagents for determining the level of hormones derived our linear regression equation allows a practicing endocrinologist to quickly and accurately determine the level of true vitamin D3 in the patient.
MON-721 Crude Protein of Pyropia Yezoensis Protects Against Tumor Necrosis Factor-á-Induced Myotube Atrophy by Regulating the Mitogen-Activated Protein Kinase and Nuclear Factor-Kappab Signaling Pathways in C2C12 Myotubes
Authors: Lee Min-Kyeong , Taek-Jeong Nam , Choi Youn Hee 
Published: May 2020

Abstract
Proinflammatory cytokines induce ubiquitin-proteasome-dependent proteolysis by activating intracellular factors in skeletal muscle, leading to muscle atrophy. Therefore, we investigated the protective effect of Pyropia yezoensis crude protein (PYCP) on tumor necrosis factor (TNF)-α-induced muscle atrophy in vitro. Mouse skeletal muscle C2C12 myotubes were treated for 48 h with TNF-α (20 ng/mL) in the presence or absence of PYCP (25, 50, and 100 μg/mL). PYCP at concentrations up to 100 μg/mL did not affect cell viability. Exposure to TNF-α for 48 h significantly decreased the diameter of myotubes, which was increased by treatment with 25, 50, and 100 μg/mL PYCP. PYCP inhibited TNF-α-induced intracellular reactive oxygen species accumulation in C2C12 myotubes. In addition, PYCP significantly reduced the levels of phosphorylated p38 and JNK. Moreover, by inhibiting the degradation of inhibitor of kappaB-α, PYCP significantly suppressed the TNF-α-induced increased transcriptional activity and nuclear translocation of nuclear factor-kappaB (NF-κB). Furthermore, PYCP inhibited E3-ubiquitin ligases in TNF-α-treated C2C12 myotubes. In conclusion, PYCP ameliorated TNF-α-induced muscle atrophy by inhibiting the mitogen-activated protein kinase-mediated NF-κB pathway, indicating that it has therapeutic potential for related disorders.