bluuebunny/crossref_metadata_2025_split huggingface dataset:
9182 Metastatic Extra-Gastrointestinal Stromal Tumor Presenting As Hypoglycemia
Authors: Faour Omar , John Dieula , Suryanarayanan Sowmya K , Rizvi Ali A 
Published: October 2024

Abstract
Disclosure: O. faour: None. D. John: None. S.K. Suryanarayanan: None. A.A. Rizvi: None.
Introduction: Non islet cell tumor hypoglycemia (NICTH) is a rare paraneoplastic syndrome seen in association with solid abdominal tumors of mesenchymal and epithelial origin. We report a case of metastatic extra-gastrointestinal stromal tumor (E-GIST) presenting with severe hypoglycemia as its initial manifestation. CASE DESCRIPTION: A 46-year-old patient was found to have a blood glucose of &lt;45 mg/dl during a routine clinic visit with her primary care physician. Although she was asymptomatic, she was sent to the emergency room (ER) for further evaluation. She had a history of prediabetes managed by lifestyle modification. She has been experiencing multiple episodes of hypoglycemia previously which fulfilled the Whipple’s triad in the preceding months. These hypoglycemic episodes included loss of unconsciousness, falls in the shower with head injury, and several hospital visits. Serum glucose in the ER was 14 mg/dl and hypoglycemia persisted despite continuous dextrose solution. Physical examination was notable for a distended, non-tender abdomen and cervical lymphadenopathy. CT scan showed a 15 cm mass in the liver, multiple large masses in the mesentery, and a 11 cm lesion in the left pelvis. There were enlarged lymph nodes in the abdomen, chest, and neck. Serum chemistries drawn when the patient was hypoglycemic revealed potassium level of 2.7 mg/dl (3.5-5.5) an insulin level of &lt;1.0 mIU/L (5-25), C-peptide &lt;0.1 ng/mL (0.5-2), cortisol 13.8 mcg/dL (5-25), and insulin-like growth factor-2 (IGF-2) was 270 ng/mL (38-267). The IGF-2/IGF-1 molar ratio was 3.4 (normal &lt;3:1). The sulfonylurea drug screen came back negative. Upper and lower endoscopies were unrevealing. Biopsy of the liver lesion showed cytology and immunohistochemical findings consistent with a epithelioid metastatic extra-gastrointestinal stromal tumor. A provisional diagnosis of NICTH was made. The patient responded well to intravenous glucose, oral carbohydrate intake and high-dose corticosteroids. She was subsequently started on therapy with the tyrosine kinase inhibitor (TKI) imatinib. Discussion: Paraneoplastic hypoglycemia is often seen in association with metastatic epithelial and mesenchymal tumors. IGF-2 and incompletely processed pro-IGF-2 activates autocrine, paracrine, and endocrine pathways that lead to tumor growth, fasting hypoglycemia, rarely of acromegalic features. Treatment with octreotide, diazoxide, and glucagon is generally ineffective, while glucocorticoid use and surgical intervention are helpful in ameliorating the hypoglycemia. Tumor-directed therapy with TKIs, primarily imatinib, appears promising in achieving remission. Our case is a clinical reminder that hypoglycemia secondary to NICTH can be the predominant presenting feature in patients with underlying E-GIST.
Presentation: 6/3/2024
7747 Poor Sleep Health And Shift Work Are Modifiable Risk Factors For Chronic Kidney Disease In UK Biobank Participants
Authors: Kanki Monica , Xiang Ruidong , Artika Nath , Nikolic-Paterson David , Tesch Gregory H , Takeuchi Fumihiko , Young Morag Jennifer 
Published: October 2024

Abstract
Disclosure: M. Kanki: None. R. Xiang: None. N. Artika: None. D. Nikolic-Paterson: None. G.H. Tesch: None. F. Takeuchi: None. M.J. Young: None.
Evaluating the impact of lifestyle factors and work practices on renal function has the potential to support the early prevention of chronic kidney disease (CKD). Current studies linking disrupted circadian rhythms to the development or progression of CKD are limited and show disparate findings. In this study, we aimed to investigate associations between circadian rhythm-disrupting behaviours and markers of renal function in a population-based cohort using the UK Biobank database (&gt;390,000 European White adults). We compared estimated glomerular filtration rate (eGFR), urine albumin-to-creatinine ratio (UACR), blood creatinine and blood urate levels between short (&lt;5-6hr), normal (7hr) or long (8-&gt;9hr) sleep lengths, in subjects assigned healthy (4-5), moderate (2-3) or poor (0-1) sleep quality scores, and subjects with different shift work schedules. History of hypertension, diabetes, cardiovascular disease, AKI, and CKD was lowest in subjects sleeping 7 hrs/day, in participants with healthy sleep quality, and in those who did not undertake shift work. Using multiple linear regression analyses, we identified an inverse U-shaped relationship between sleep length and eGFR after adjusting for key covariates including biological sex, age, and BMI in the baseline model. Sleep quality score was positively associated with eGFR, and negatively associated with blood urate. When stratified according to inflammatory status, biological sex, or age, this positive association between sleep quality and eGFR was lost in males and those with low or medium C-reactive protein (CRP) levels but remained significant in both age groups (≤50 years and &gt;50 years old). In contrast, sleep quality was negatively associated with UACR in participants with medium CRP levels, above 50 years old, or separately in males only. Investigating associations between sleep length, shift work schedules, and other sleep-related factors (e.g. chronotype, daytime napping, and insomnia) with renal function is in progress. This study is the first to link associations between sleep quality and renal function to inflammatory status. We also show that compromised sleep health can affect renal function differently between males and females and is dependent on age. To date, our findings support promoting healthy sleep quality as a modifiable risk factor of renal dysfunction, which could be valuable in the prevention of CKD.
Presentation: 6/1/2024
7947 Semaglutide Induced Pancreatitis: A Case Report
Authors: Altaweel Tamara , Mathew Anoopa , Chalasani Pranav , Lawrence Lima , Hussain Shahed , Aldaoud Nour 
Published: October 2024

Abstract
Disclosure: T. Altaweel: None. A. Mathew: None. P. Chalasani: None. L. Lawrence: None. S. Hussain: None. N. Aldaoud: None.
Introduction/Background: As semaglutide (GLP1 RA) has become a cornerstone in diabetes and weight management, there have been studies indicating pancreatic inflammation with GLP1 RA use. We report a case of acute necrotizing pancreatitis secondary to semaglutide use.Clinical Case: A 52 year old male with a history of hypertension, morbid obesity with BMI of 40 kg/m2, alcohol induced pancreatitis presented to the hospital complaining of epigastric pain. On presentation, he appeared in distress due to pain but was hemodynamically stable. Physical examination revealed a moderately distended abdomen, tender to palpation over the epigastric area without guarding, and negative Murphy’s sign. The patient reported no alcohol consumption, tobacco usage, or recent abdominal injuries. Laboratory workup revealed elevated WBC 14.6 thous/mcL (4.5-10.5) and lipase 1941 U/L (&lt;60). Abdominal ultrasound showed common bile duct 2 mm without gallstones and CT abdomen revealed acute pancreatitis with suspected necrosis in the pancreatic head and the pancreatic tail. Patient was started on aggressive fluid hydration, pain management and admitted to intensive care. Patient reported that he was started on semaglutide three months ago for weight management by his primary care physician. Patient improved symptomatically with pain control and tolerated oral intake. He was discharged home with recommendations not to resume semaglutide. Conclusion: Semaglutide involves direct stimulation of GLP-1 receptors in pancreatic cells, potentially leading to cell overgrowth, increased pancreatic weight, duct occlusion and inflammation. Despite the SUSTAIN-6 trial indicating no increased risk of acute pancreatitis in diabetic patients using semaglutide, atypical presentations of pancreatitis are noted in patients using the medication for weight management. When all identifiable causes of pancreatitis are eliminated, semaglutide-induced pancreatitis should be a primary consideration in the differential diagnosis. Physicians should exercise caution and give careful consideration when prescribing semaglutide for weight management in patients with conditions that increase risk for pancreatitis.
Presentation: 6/2/2024
8687 The Efficacy of GLP1 Receptor Agonists in Obese Women with PCOS in Promoting Weight Loss and Hormonal Regulation: A Systematic Review and Meta-Analysis
Authors: Morais B Austregesilo Athayde H , Prizão V M , Ximenes Mendes B , Defante M L , Martins O C , Correa T L , De Moura de Souza M d 
Published: October 2024

Abstract
Disclosure: B. Austregesilo Athayde H Morais: None. V.M. Prizão: None. B. Ximenes Mendes: None. M.L. Defante: None. O.C. Martins: None. T.L. Correa: None. M.D. De Moura de Souza: None.
Background: GLP1 receptor antagonists (GLP1a) are known for their efficacy in promoting weight loss among obese and diabetic patients. However, their impact on weight reduction and hormonal regulation in obese females with polycystic ovarian syndrome (PCOS) remains understudied. Therefore, we aimed to perform a meta-analysis exploring the efficacy of GLP1a against placebo for ameliorating symptoms of PCOS. Hypothesis: The use of GLP1 receptor agonists in obese women with PCOS reduces body mass index and waist circumference as well as normalizes hormone levels such as total testosterone, total cholesterol, and HOMA-IR. Methods: We conducted a comprehensive search of PubMed, Cochrane, and Scopus databases to identify trials comparing GLP1a against placebo among women diagnosed with PCOS based on the Rotterdam Criteria. Our primary outcomes of interest included body mass index (BMI), triglycerides, waist circumference, total testosterone, total cholesterol, and HOMA-IR. We performed data extraction and quality assessment for studies that met the inclusion criteria. Subsequently, we conducted a statistical analysis using Review Manager 5.1.7 (Cochrane Collaboration). We evaluated heterogeneity using I² statistics. Results: We included 176 participants from 4 studies, which all were RCTs. GLP1a was used to treat 111 (63.06%) patients. Analyzed outcomes included waist circumference (MD: −5.16 cm; 95% CI: −6.11 to −4.21; p &lt; 0.00001), total testosterone (MD: −1.33; 95% CI: −2.55 to −0.12; p =0.03), BMI (MD: -2.42; 95% CI: -3.10 to -1.74; p &lt; 0.00001), total cholesterol (MD: −0.04; 95% CI: −0.10 to 0.01; p =0.15), HOMA-IR (MD: −0.30; 95% CI: −0.92 to 0.32; p =0.35), Triglycerides (MD: −0.20; 95% CI: −0.30 to −0.11; p &lt; 0.00001) were lower in patients treated with GLP1a compared with placebo. Most patients who discontinued the trials did so because of a nausea side effect. Conclusion: The utilization of GLP1a demonstrates efficacy in reducing body mass index (BMI), triglycerides, waist circumference, total testosterone, total cholesterol, and HOMA-IR. These results signify its viability as a favorable treatment option for managing PCOS in obese females.
Presentation: 6/3/2024
8536 Unusual Finding of Familial Adenomatous Polyposis in a Patient with X Linked Adrenoleukodystrophy
Authors: Deswal A , Dwarakanathan A 
Published: October 2024

Abstract
Disclosure: A. Deswal: None. A. Dwarakanathan: None.
Introduction: X Linked Adrenal Leukodystrophy (X-ALD) is a rare hereditary genetic disorder of impaired peroxisomal metabolism due to a defective transmembrane protein, ADLP. Defective ADLP impairs transport of VLCFA-CoA esters across cytosol into peroxisomes leading to build-up of toxic VLCFA in the cells. X-ALD is caused by mutation in ABCD1 gene, located on X chromosome, which codes for ADLP. It has a broad clinical spectrum including Cerebral ALD, Adrenomyeloneuropathy and Adrenocortical insufficiency. X-ALD has a general prevalence of 1 in 17,000 newborns. Approximately 80% of males with X-ALD develop primary adrenal insufficiency in their lifetime. It can be diagnosed by measuring VLCFA levels in plasma , checking for ABCD1 gene mutation or by doing Brain MRI (depending upon phenotypical presentation ). Case presentation: We report a case of a 23 year old man who had primary adrenocortical insufficiency subtype of X-ALD. His mother was a carrier of ABCD1 gene mutation. He himself tested hemizygous for ABCD1 gene. He came to our office for a follow up visit after an episode of adrenal crisis for which he was hospitalized. He was started on replacement therapy with prednisone and fludrocortisone. Over the next couple of years, he was diagnosed with diabetes mellitus with initial HbA1C of 8.8%. GAD antibody test for type I DM came out negative. His diabetes was managed with metformin and pioglitazone( later discontinued) .By the age of 25,he was found to have polyposis of colon. He tested positive for APC gene mutation . He underwent a J pouch surgery . He also developed PICA aneurysm. Discussion: X-ALD is a hereditary progressive disease with no association between genetic and phenotypic presentations. Adrenal insufficiency type is usually the first to present. Cerebral ALD is typically diagnosed between the ages of 3-18 presenting as psychiatric illness. Myelopathy typically starts by middle age and involves the spinal cord, causing the affected individuals to develop gait disturbances , bladder and bowel dysfunction, with severe mobility dysfunction by 5th-6th decade of life. We present a unique case of a young man with adrenal insufficiency type of X-ALD who also developed gastrointestinal pathology. Per our literature review, X-ALD has not been seen associated with APC gene mutations or colon carcinomas . Pathology behind XLD revolves around ABCD1 gene mutaion causing VLCFA accumulation in plasma, fibroblasts, adrenal glands, oligodendrocytes , astrocytes etc. Whereas FAP involves APC gene mutation which affects the intestinal epithelial cells leading to their apoptosis and polyp formation. X-ALD and FAP are disorders of two different gene mutations with varied clinical presentations. But the question arises regarding finding of APC gene mutation in a patient with ABCD1 gene mutation that if it is a mere co-incidence or common mutation pathway linking these two disorders exists.
Presentation: 6/2/2024
9177 "Double Trouble: Exploring Moya Moya Syndrome In The Context Of Graves' Disease - A Case Report"
Authors: Agrawal Bhavika , Mehta Vidhi , Naseem Rabia , Patel Harshil 
Published: October 2024

Abstract
Disclosure: B. Agrawal: None. V. mehta: None. R. Naseem: None. H. patel: None.
Introduction: Moyamoya syndrome, characterized by progressive intimal hyperplasia in the terminal parts of the internal carotid artery and the circle of Willis, leads to stenosis followed by collateralization, resulting in a characteristic "smoky" appearance on angiography, known as "Moya-Moya." This rare vasculopathy has shown an increasing association with Graves' disease. Case Presentation: A 37-year-old female with a medical history of SLE, Graves' disease, Sjogren's syndrome, and hypertension presented with left facial droop and weakness lasting 24 hours. She had a similar episode four months prior, which resolved spontaneously. Initial CT scan revealed scattered areas of parenchymal attenuation in the periventricular white matter. Further imaging with CTA demonstrated steno-occlusive distal intracranial internal carotid artery and bilateral M1 segments, characteristic of Moyamoya syndrome. Concurrently, she had an enlarged multinodular goiter. Laboratory findings showed high t4 and low TSH due to non-compliance to medications. MRI confirmed a multifocal acute/subacute infarct in the right MCA territory. Vasculitis and hypercoagulable work up was negative. Neurosurgical intervention was deferred, and within 24 hours, the patient experienced complete resolution of symptoms with methimazole, aspirin and statin. Discussion Moyamoya syndrome, predominantly affecting Japanese and South Asian populations, often exhibits familial predisposition linked to the RNF213 gene. Typically affecting females with a mean age of 33, Moyamoya in Graves' disease presents with ischemic stroke or TIA during thyrotoxic states, characterized by suppressed TSH and elevated T4, which usually resolves with anti-thyroid therapy. Elevated thyroid autoantibodies are frequently observed in the cases reported so far. However, in contrast to strokes associated with Graves' disease, other autoimmune conditions such as T1DM and neurofibromatosis often manifest with haemorrhagic strokes. Angiography commonly reveals unilateral or asymmetrical vascular lesions, possibly linked to thyrotoxic states increasing cerebral metabolism and inducing multiple stenoses. Conclusion: In female patients presenting with transient ischemic attack (TIA) or ischemic stroke and diagnosed with Moyamoya syndrome on angiography, thyroid disorder screening is crucial. Elevated thyroid antibodies indicate a potential thyroid disorder, warranting initiation of anti-thyroid drugs alongside stroke management protocols to alleviate symptoms. This aims to improve patient outcomes by addressing both vascular and endocrine factors contributing to the pathology of Moyamoya syndrome in this specific demographic.
Presentation: 6/1/2024
9234 A Case of Gigantism Due to An AIP Gene Mutation: Implications for Genetic Counseling and Preimplantation Genetic Diagnosis
Authors: Serebro Merav , Bach Michal Yacobi , Zohar Naomi Even , Reches Adi , Greenman Yona 
Published: October 2024

Abstract
Disclosure: M. Serebro: None. M. Yacobi Bach: None. N. Even Zohar: None. A. Reches: None. Y. Greenman: None.
From the age of 17 the patient experienced accelerated growth, facial changes, and enlargement of hands and feet. Despite having a sister already diagnosed with acromegaly, the patient did not undergo endocrine evaluation until the age of 25, when he was diagnosed with gigantism. Magnetic resonance imaging (MRI) revealed the presence of a macroadenoma with suprasellar extension reaching the optic chiasm. The patient underwent transsphenoidal surgery and excision of a sparsely granulated somatotroph adenoma that was Pit1 positive and exhibited weak immunostaining for growth hormone (GH). Insulin-like growth factor 1 (IGF1) levels normalized after surgery, and a fasting GH level was 0.6 ng/ml. Given the family history and the early onset of the disease, genetic counseling was recommended. Genetic testing revealed a heterozygote likely pathogenic variant in the AIP gene (c.713G&gt;A). This finding prompted the recommendation for genetic testing of all first-degree relatives. The patient and his wife, who desired to have children, were referred to obstetrics and gynecology for pregestational diagnosis. Family segregation testing indicated that the patient's mother also carried the same AIP variant. Preimplantation genetic diagnosis (PGD) was conducted, revealing that 11 out of 20 embryos were carriers of the AIP variant. The non-carrier embryos were selected for implantation, and pregnancy was achieved. Efforts to inform first-degree relatives about the importance of genetic testing were undertaken, and one sister was tested and found to be healthy. Other siblings have not yet been tested. The patient's mother, identified as an AIP variant carrier, underwent endocrine laboratory tests that showed GH, IGF1, and prolactin levels within the normal range. Brain MRI did not reveal a pituitary lesion.This case highlights the significance of genetic counseling and testing in patients with familial endocrine disorders, the potential implications of a molecular diagnosis of a pathogenic AIP variant, and the challenges faced in reproductive decision-making for affected individuals and their families.
Presentation: 6/3/2024
6530 A Case of Lymphocytic Hypophysitis Followed by Acromegaly
Authors: Medina Mora L , Htoo S , Sanchez Ruiz A , Harshan M , Liu M 
Published: October 2024

Abstract
Disclosure: L. Medina Mora: None. S. Htoo: None. A. Sanchez Ruiz: None. M. Harshan: None. M. Liu: None.
Introduction: Acromegaly, a disorder with an estimated incidence of 0.28-0.4 cases per 100,000 individuals, is characterized by overproduction of growth hormone. Features include acral enlargement, frontal bossing, macrognathia, headaches, and hyperhidrosis. Comorbidities include hypertension, sleep apnea, type 2 diabetes, and cardiomyopathies. Hypophysitis, with an incidence of 1 in 9 million individuals, is an even rarer condition that involves pituitary gland inflammation. It can often lead to hormonal dysfunction and compression of surrounding structures. It is extremely rare for both acromegaly and hypophysitis to occur in the same individual. In this case report, we present a patient who developed lymphocytic hypophysitis followed by acromegaly. Case Report: A 58-year-old woman with a history of hypertension and lymphocytic hypophysitis (discovered during a workup of headaches without hormone derangement) returned to the clinic two years after complaining of progressive enlargement of her hands and feet, fragmented sleep, insomnia, and coarsening of facial features. She was found to have elevated IGF-1 (886 ng/mL; reference range: 48-235 ng/mL) and growth hormone levels (86.9 ng/mL; reference range: 0.12-9.88 ng/mL). An MRI showed a 2.9 x 3.2 x 3.8 cm suprasellar/sellar mass causing pressure on the optic chiasm, hypothalamus, third ventricle and midbrain. The patient underwent transsphenoidal resection (TSR), which was incomplete because the tumor was located behind the pituitary gland, followed by a right craniotomy to remove the remaining tumor. The tumor specimen stained positive for GH and PIT 1, exhibiting elevated proliferative indices (&gt;2 mitotic figures per 10HPF, Ki-67 20%) and p53 labeling (5%). After the surgery, the patient's IGF-1 and GH levels normalized. However, her postoperative course was complicated by third cranial nerve palsy, diabetes insipidus, hypothyroidism, and secondary adrenal insufficiency. Discussion: Although TSR is the first-line treatment for most patients with acromegaly, it may not always result in a complete cure, as almost 50% of patients with macroadenomas do not achieve full surgical recovery. For persistent disease, medical therapy or transcranial surgery may be required. The tumor in this case was atypically proliferative, which was likely why GH and IGF-1 levels rose rapidly, manifesting in acromegalic symptoms in our patient two years after diagnosis of lymphocytic hypophysitis. The natural history of hypophysitis typically progresses from inflammation to fibrosis and subsequently to atrophy of the pituitary cells. This atrophy may cause changes in regulatory hormones that promote tumorigenesis. Therefore, hypophysitis may stimulate adenoma formation leading to acromegaly. More research is needed to characterize the relationship between these two rare entities.
Presentation: 6/2/2024