bluuebunny/crossref_metadata_2025_split huggingface dataset:
ODP122 Recurrent Episodes of Hypercalcemia due to Disseminated Mycobacterium Avium Complex Infection-related Immune Reconstitution Inflammatory Syndrome
Authors: Downs Ian , Donangelo Ines 
Published: November 2022

Abstract

Introduction
Immune reconstitution inflammatory syndrome (IRIS) may occur in patients with acquired immunodeficiency syndrome (AIDS) following initiation of antiretroviral therapy (ART) due to exacerbation of preexisting infectious process, such as disseminated mycobacterium avium complex (dMAC). This type of inflammatory process may be associated with granuloma formation and 1,25(OH) 2 vitamin D-mediated hypercalcemia. Hypercalcemia typically is controlled with a single dose of intravenous bisphosphonate or a two to four-week course of glucocorticoid, in addition to antibiotics for dMAC and ART. Here we present a case of IRIS-associated hypercalcemia related to dMAC resistant to intravenous bisphosphonate therapy and an extended glucocorticoid course.

Case presentation
A 30-year-old man with AIDS with CD4 count 4 cells/mm^3 (441-2,156) was admitted with subacute fevers, chills, and cough one month after starting ART. Cultures drawn during admission were positive for MAC and he was started on therapy for dMAC with ethambutol and azithromycin. Seven months after starting ART, he was readmitted with weakness and fatigue and found to have calcium 13.5 mg/dL (8.6-10.4), albumin 3.9 g/dL (3.9-5. 0), creatinine 1.40 mg/dL (0.6-1.3), CD4 count 80 cells/mm3. Further workup revealed intact PTH 2 pg/mL (11-51), 25-OH vitamin D 38 ng/mL (20-50), 1,25(OH) 2 vitamin D 171 pg/mL (19.9-79.3), PTHrP &lt; 2. 0 pmol/L (0. 0-2.3), suggestive of PTH-independent hypercalcemia mediated by 1,25(OH) 2 vitamin D. CT scan of the chest showed multiple cavitary lesions, ground glass nodularity, and diffuse lymphadenopathy. He was treated with intravenous fluids, zoledronic acid 4mg, and continued ART and antibiotics for MAC. On discharge calcium was 9.5 mg/dL. He had recurrence of 1,25(OH) 2 vitamin D-mediated hypercalcemia (calcium 13.6mg/dL) 11 months after starting ART, which was controlled with intravenous fluid and prednisone 60mg tapered over 6 weeks. He then had recurrence of hypercalcemia 13 and 16 months after starting ART, each resolved with intravenous fluids and repeat prolonged prednisone courses. Testing for other infectious causes of granulomatous disease including Cryptococcus, Histoplasma, Mycoplasma tuberculosis was negative during multiple presentations. At 13 months, his CD4 count was 214 cells/mm^3 and repeat CT scan of the chest showed improvement in size of cavitary nodule and ground glass nodularity.

Conclusion
IRIS related to dMAC is an uncommon cause of 1,25(OH)2 vitamin D-mediated hypercalcemia. Multiple recurrences of hypercalcemia and the need for extended courses of glucocorticoid despite improvement of underlying infectious process has not previously been reported.
Presentation: No date and time listed
ODP124 Sickle Cell Bone Disease and Response to Intravenous Bisphosphonates in Children
Authors: Todd Alexander R , Grimbly Chelsey , Ward Leanne M , Grimbly Chelsey , Escagedo Patricia Diaz , Jaremko Jacob L , Bruce Aisha , Alos Nathalie , Robinson Marie-Eve , Konji Victor N , Page Marika , Simpson Ewurabena , Pastore Yves D , Girgis Rose 
Published: November 2022

Abstract

Purpose
To evaluate bone morbidity and the response to intravenous (IV) bisphosphonate therapy in children with Sickle Cell Disease (SCD).

Methods
We conducted a retrospective review of patient records from 2003 to 2019 at three Canadian pediatric tertiary care centers. Radiographs, magnetic resonance images, and computed tomography scans were reviewed for the presence of avascular necrosis (AVN), bone infarcts, and myositis. IV bisphosphonates were offered for bone pain management. Bone mineral density was assessed by dual-energy X-ray absorptiometry (DXA).

Results
Forty-six children (20 girls, 43%) had bone morbidity at a mean age of 11.8 years (SD 3.9) including AVN of the femoral (17/46, 37%) and humeral (8/46, 17%) heads, H-shaped vertebral body deformities due to endplate infarcts (35/46, 76%), and non-vertebral body skeletal infarcts (15/46, 32%). Five children (5/26, 19%) had myositis overlying areas of AVN or bone infarcts visualized on magnetic resonance imaging. Twenty-three children (8/23 girls) received IV bisphosphonate therapy. They all reported significant or complete resolution of bone pain. There were no reports of sickle cell hemolytic crises, pain crises or stroke attributed to IV bisphosphonate therapy. Bone mineral apparent density Z-score increased at the lumbar spine (N=14, mean change +0.6, SD 0.4) and total body less head (N=14, mean change +0.5, SD 0.4) after IV bisphosphonate therapy (mean 1.5 years, SD 0.8).

Conclusion
Children with SCD have the potential for extensive and early-onset bone morbidity. In this series, IV bisphosphonates were effective for bone pain analgesia and did not trigger sickle cell complications.
Presentation: No date and time listed
ODP566 Success of CME at Improving Knowledge, Competence and Confidence Related to Guideline-Based Diagnosis and Management of Acromegaly
Authors: Carothers Ann , Larkin Amy , Maeglin John 
Published: November 2022

Abstract

Introduction
We sought to determine if a series of online continuing medical education (CME) activities could improve knowledge, competence and confidence of primary care physicians (PCPs) and endocrinologists (endos) related to guideline-based diagnosis and management of patients with acromegaly.

Methods
The effect of two (2) separate online, 30-minute, CME-certified roundtable discussions among 3 faculty were analyzed to determine efficacy. The activities posted December 16, 2020, and May 19, 2021, and data were collected for 3 months for each activity.

Results
Overall, 42% and 30% of PCP learners and 20% and 43% of endo learners improved their knowledge/competence.

Conclusions
This study demonstrates the success of 2 online, 30-minute roundtable discussions on improving knowledge, competence, and confidence of both PCPs, and endocrinologists regarding guideline-based diagnosis and management of acromegaly, with gaps identified for future education.
Presentation: No date and time listed
ODP588 A Rare Case Of Infantile Transient Psuedohypoparathyrodism
Authors: Hathi Deep , Baidya Arjun , Tarenia Silima Subhasnigdha , Das Niladri , Gaikwad Prashant Manohar , Pathak Yashaswi , Banerjee Abhirup , Chatterjee Mounam , goswami Soumik , Sengupta Nilanjan 
Published: November 2022

Abstract

Background
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders in which resistance to parathyroid hormone (PTH) in the proximal renal tubules leads to hypocalcemia, hyperphosphatemia, and impaired 1,25(OH)2 vitamin D production.

Clinical Case
A 2-month-old child presented with history of recurrent focal seizures since last 10 days. During the first episode, the child was treated with anti- convulsant by paediatrician. Five days later she again developed focal seizures, this time the child was evaluated and serum calcium was 5.6 mg/dl (normal, 8.6-10.2 mg/dl), phosphorus 7.5 mg/dL (normal, 4. 0-7. 0 mg/dL), and magnesium 2. 0 mg/dL (normal 1.8-2.4 mg/dL). In view of symptomatic hypocalcemia, she was treated with I. V. 10% calcium gluconate and oral calcifediol (800 IU/day). The child was seizure free but still had hypocalcemia - serum calcium-6.8 mg/dl, hence the child was evaluated further- serum PTH was 561 pg/mL (normal, 9-91 pg/mL), 25-hydroxyvitamin D was 54.1 ng/mL (normal, 5-60 ng/mL), 1,25 Vit D-6.28 pg/mL (normal, 19.9-79.3pg/mL), TSH-2.69 μUI/mL (normal, 0.35-8. 00 μUI/mL), FT4 was 1.2 ug/dL (normal, 0.9-1.8 ug/dL). Physical examination was unremarkable, and there were no stigmata of AHO, rachitic rosary, or congenital malformations. EEG was normal and CT brain did not show any intraventricular haemorrhage or basal ganglia calcification. Consistent with hypocalcaemia, hyperphosphatemia, high serum PTH levels, and lack of stigmata of AHO, we considered PHP type Ib. Her parents refused further examinations, so PTH infusion and molecular analysis of the GNAS gene could not be performed. The child was discharged in good clinical condition on calcitriol 0.25 ug/day and calcium (elemental calcium 625 mg/day) supplementation. He had no further seizures and normal serum electrolyte levels till 9 months of age. European Pseudohypoparathyroidism Network (EuroPHP Network) has recently proposed a new classification system to cover all disorders of the PTH pathway. Inactivating PTH/PTH-related protein signaling disorder (iPPSD) is the new name proposed for these disorders. iPPSDs can be further divided into subtypes: iPPSD1 to iPPSD6. A minimum of one major criterion is mandatory for the clinical diagnosis of iPPSD. Applying iPPSD criteria to this case, one can observe that they all had persistent hypocalcemia and PTH resistance but no other major or minor criteria. Nevertheless, we speculate whether neonatal transient pseudohypoparathyroidism (ntPHP) could be included among iPPSDs, specifically in the group of unknown molecular defects.

Conclusion
To the best of our knowledge, this is the second report in which the new classification of iPPSD has been applied and the child has been diagnosed a case of ntPHP.
Presentation: No date and time listed
ODP592 Delay in Diagnosis of Adult with Familial Hypophosphatasia
Authors: Choe Chlarles , Mao Jimmy , Woods Gina , Rodriguez Arianna 
Published: November 2022

Abstract

Background
Familial Hypophosphatasia (HPP) is a rare genetic disorder characterized by defecitve bone and/or teeth mineralization in the presence of low alkaline phosphatase activity due to loss-of-function mutations in the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene. HPP typically presents in middle age with a mild phenotype.

Case Presentation
A 43-year-old woman with PMH undifferentiated connective tissue disease and GERD referred to endocrinology clinic. She was previously diagnosed with schleroderma and was treated with prednisone and hydroxychloroquine without symptom improvement. Symptoms included: progressing bone, joint, and muslce pain; unsteady gait; proximal muscle weakness; fatigue; early loss of deciduous teeth; loss of teeth mineralization; history of finger and toe fractures from repetitive stress.
Family History: Mother: ongoing joint/muscle pain as well as tooth loss. Daughter: failure to thrive, kyphosis, orthopedic problems, required leg casting for 1 year.
Physical Exam: unrevealing (limited due to video visits).
Significant Laboratory/Imaging Findings: Serum alkaline phosphatase (ALP): 16 U/L (ref. 35-140 U/L)Vitamin B6: 235.3 nmol/L (ref. 20-125 nmol/UL)Calcium: 9.3 mg/dL (ref. 8.5-10.6 mg/dL).Dual energy X-ray absorptiometry (DXA): normal bone mass for age.Genetic testing: one heterozygous pathogenic variant in ALPL, c.318G&gt;C (p.CIn106His).
Treatment Course: Genetic testing consistent with a diagnosis of familial HPP, specifically juvenile onset. Initiated on Asfotase-alfa, an alkaline phosphatase enzyme replacement therapy.
Screening prior to treatment: Renal ultrasonography without ectopic calcificationOpthalmology exam without calficiations identified

Discussion
HPP should be suspected in patients with defective mineralization of bone and/or teeth in the setting of an unexplained low serum ALP activity and elevated Vitamin B6 level. Non-specific symptoms such as bone, joint, and muscle pain are common presenting symptoms in adults with HPP. Treatment with asfotase-alfa may be considered for adults with symptom onset in childhood, including early loss of deciduous teeth. Early diagnosis and treatment may improve overall quality of life. At this time, there are no guidelines for selecting adult patients for treatment with alfoterase-alfa. Further studies are needed to evaluate the benefits of enzyme replacement therapy among adults with HPP.
Presentation: No date and time listed
ODP652 Challenges in the Management of Hypocalcemia in a Patient with Advanced Stage of Parotid Gland Adenocarcinoma
Authors: Go Hannah R , Alba Rebecca 
Published: November 2022

Abstract

Background
Derangements of calcium metabolism are common in patients with cancer. 1 Unlike hypercalcemia which is well-recognized, little is known about hypocalcemia of malignancy. 2 In fact, there were only 2 studies published to date that investigated its incidence among cancer patients. 2,3 Clinical Case: A 40-year-old male consulted an ENT specialist for a 2×2 cm left parotid mass of 3 years duration. There was no fever, cough, night sweats or significant weight loss. Histological analysis of the mass revealed parotid gland adenocarcinoma. Tumor metastases to lung and spine were seen on PET CT scan. Consequently, he received 18 cycles of chemotherapy and 10 sessions of radiotherapy without surgery because of the advanced stage. He initially exhibited good response with the treatment. A year after,he developed shortness of breath, numbness of hands with seizure episode. Chest x-ray showed pleural effusion and osteoblastic changes while cranial CT scan revealed brain metastasis. Bone scintigraphywas evident for multiple osseous metastases. He underwent stereotactic brain surgery, and thoracentesis with pleural fluid analysis consistent with malignancy. Biochemical tests were remarkable for hypocalcemia (0.99, n&gt;1.12 mmol/L, normomagnesemia (0.89, n&gt;0.74 mmol/L), low vitamin D (11.6, n&gt;30 ng/mL), elevated phosphate (1.73; n: &lt;1.49 mg/dL), and elevated intact PTH which eventually dropped (157.7 to 9, n&gt;15 pg/mL). Ultrasound of the neck revealed diffuse thyroid calcifications. Despite oral calcium supplementation (14.4 grams elemental calcium),calcium infusion (1.35 mg/kg/hour elemental calcium) and vitamin D supplementation (6000 IU cholecalciferol and 0.5 mg calcitriol daily), he remained hypocalcemic. His condition eventually worsened, and he succumbed to death in due course despite aggressive measures provided.

Conclusion
To our knowledge, this is the first case illustrating the therapeutic challenge in addressing an intractable hypocalcemia in the setting of an advanced parotid carcinoma inour country. Reference: (1)Carl Blomqvist. A Hospital Survey of Hypocalcemia in Patients with Malignant Disease. Acta Med Scand. 1986;220. (2) Schattner et al. Hypocalcaemia of Malignancy. The Netherlands Journal of Medicine. July 2016, Vol. 74, No. 6. (3) Goncalves. Hypocalcemia in cancer patients: An exploratory Study. Porto Biomed. J. (2019) 4: 4
Presentation: No date and time listed
PSAT223 A Delayed Diagnosis of Oncogenic Osteomalacia Presenting with Bone Pain, Muscle Weakness and Elevated Alkaline Phosphatase
Authors: Gastelum Alheli Arce , Mao Jimmy J , Woods Gina N 
Published: November 2022

Abstract

Background
Tumor-induced osteomalacia (TIO) is a rare bone disease caused by excess production of FGF23 by a phosphaturic mesenchymal tumor, resulting in severe hypophosphatemia, bone demineralization, insufficiency fractures, bone pain and muscle weakness. The Fibroblast Growth Factor-23 (FGF23) is a phosphaturic hormone produced by osteocytes, whose primary effect is to decrease serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption (via diminished 1,25D production).

Clinical case
A 65-year-old male was referred to endocrinology clinic for a second opinion due to severe rib pain and elevated alkaline phosphatase levels. His first endocrinologist diagnosed Paget's disease of the bone based on symptoms of rib pain, an elevated alkaline phosphatase level, and abnormal Tc99 bone scintigraphy demonstrating uptake in multiple areas, including bilateral humeri, ribs, knees, ankles, and L4 vertebral body. He received 5 mg IV zoledronate for treatment of Paget's disease, and immediately post-infusion reported worsening of severe rib pain. Upon presentation to our institution, he reported ongoing severe rib pain and bilateral knee pain. On exam, he had extreme difficulty rising from a seated position. Laboratories revealed calcium 9.0 mg/dL, albumin 5.0 g/dL, alkaline phosphatase 116 U/L, 25D 43 ng/dL, PTH 66 pg/mL and serum phosphorous 1.5 mg/dL. Tubular Reabsorption of Phosphate (TRP) was 59%, based on a spot second morning void with corresponding fasting morning blood draw. 1,25D was 13 pg/mL (19-79 pg/mL). Intact FGF23 was 346 pg/mL (&lt;59 pg/nL). CT revealed bilateral tibial plateau insufficiency fractures. When asked if he noticed any "lumps or bumps", the patient reported a lump under his left second toe. MRI showed a 1.8 cm soft tissue mass.
A GA68-DOTA-TATE PET CT revealed a 2.3 cm soft tissue mass plantar to the 2nd left proximal phalanx with intense activity mass (SUVmax 39.8). This mass was surgically excised. Post-operative FGF23 levels were as follows: 38 pg/mL → 15 pg/mL → &lt;14 pg/mL.
Within 14 days, the patient's ability to rise from a seated position was markedly improved. His severe rib pain persisted for three weeks but was significantly improved by six weeks post-op. Despite treatment with 1 mcg calcitriol daily and 5000 IU vitamin D daily, he developed evidence of post-operative hungry bone syndrome with calcium 8.3 mg/dL, PTH 64 pg/mL, and alk phos 157 U/L.

Conclusion
Tumor-induced osteomalacia is a rare but treatable condition, presenting with severe hypophosphatemia, bone pain, bone demineralization, insufficiency fractures, and muscle weakness. Due to the nonspecific nature of the presenting symptoms, delays in diagnosis are common. Serum phosphorous should be obtained in all patients presenting with unexplained elevations in alkaline phosphatase.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
LBODP028 Identifying Biomarkers For Predicting Response To Mineralocorticoid Receptor Antagonist Treatment In Heart Failure
Authors: Karthigan Nikshay , Lockwood Siobhan , White Anthony , Yang Jun , Young Morag Jennifer 
Published: November 2022

Abstract
Despite significant improvements to patient care, heart failure (HF) remains a major public health burden. Mineralocorticoid receptor antagonists (MRAs) reduce hospitalisation and improve survival in patients with HF with reduced ejection fraction (HFrEF) but the widespread use of MRAs is limited by adverse effects including hyperkalaemia. The use of biomarkers to guide therapy may enable earlier treatment or minimise side effects from unnecessary therapies. We have previously described mineralocorticoid receptor responsive genes in monocytes/macrophages and hypothesised that response to MRAs can be detected in this cell population. Therefore, we aimed to identify biomarkers for predicting response to MRAs to facilitate personalised treatment of HF. Microarray-based transcriptome profiling was performed on monocytes obtained from six patients with HFrEF, before and after three months of MRA treatment. Three patients demonstrated improvement in left ventricular ejection fraction (LVEF) after 12 months of MRA treatment (Group 1), whereas the other three patients exhibited minimal functional response to MRAs (Group 2). To visualise sample similarity, multidimensional scaling (MDS) was employed which revealed distinct separation of males from females. To understand the changes in monocyte gene expression following MRA treatment, differential expression analysis was performed. Paired analysis of Group 1 samples (before vs after MRA treatment) identified 319 unique differentially expressed genes (DEGs) with an estimated fold-change ≥ 2 and q-value &lt; 0. 05; 1 upregulated, 318 downregulated, and paired analysis of Group 2 identified 1 unique DEG. RT-qPCR was used validate top DEGs implicated in cardiovascular pathophysiology which confirmed downregulation of 12 of the top DEGs in Group 1. Additionally, cluster of differentiation (CD) encoding genes CD14, CD163, and CD68 were upregulated in Group 1 but downregulated in Group 2. Additional differential expression analyses were also performed by stratifying patients according to additional metrics of functional response including change in B-type natriuretic peptide (BNP). However, these analyses did not identify statistically significant DEGs. Our results indicate MRA treatment can significantly alter the human monocyte transcriptomic profile. Further research is needed to establish the utility of these DEGs as biomarkers for early prediction of MRA treatment-response in patients with HF, and to define sex-specific differences.
Presentation: No date and time listed
ODP148 GENDER AFFIRMING HORMONE THERAPY AND SPONTANEOUS CORONARY ARTERY DISSECTION
Authors: Yogeswaran Vidhushei , Chang Hou-Hsien , Wright Lorena Alarcon-Casas 
Published: November 2022

Abstract

Introduction
Spontaneous coronary artery dissection (SCAD) is an important and underreported cause of acute coronary syndrome in women. SCAD has been linked to arteriopathy, pregnancy, as well as hormone replacement therapy in cisgender patients. There is a scarcity of data on the long-term cardiovascular effects of gender affirming hormonal therapy (GAHT) with estrogen. Observational studies have shown increased thromboembolic disease and cardiovascular events in transwomen on estrogen, with oral synthetic or oral combined equine estrogens showing a higher association versus transdermal formulations, however there had been no reports of SCAD in transgender patients on GAHT.

Clinical Case
A 37-year old transwoman with a history of gender affirming orchiectomy on GAHT with sublingual estradiol 2 mg BID presented with typical symptoms of acute coronary syndrome. No prior history of chest pain. No personal history or family history of cardiovascular disease or risk factors. Initial Troponin I was 9.52 ng/dl (&lt;0. 04 ng/dl), ECG with non-specific ST-changes. A transthoracic echocardiogram showed hypokinesis of the mid anterior and lateral wall. She underwent urgent cardiac catheterization, found to have SCAD of her ramus intermedius. Given the size of the lesion and wall motion abnormalities, a cutting balloon was used to inflate the lesion, and she remained chest pain free during the hospitalization. She was started on Aspirin, Clopidogrel, and Metoprolol. Sublingual estradiol was determined to be her only predisposing risk factor and therefore it was held during her hospitalization and during the lesion healing period, with plans to change to a constant transdermal estrogen patch in the primary care setting.

Discussion
This is the first case report showing an association of estrogen GAHT and SCAD in a transwoman. SCAD has been observed to occur more often in cisgender women during the late luteal phase and post-partum period, raising the hypothesis that estrogen level fluctuations could potentially play a role. Sublingual estradiol has been shown to have higher peak and trough serum concentration compared to oral estradiol. Research is needed in this area and on the potential adverse cardiovascular effects of GAHT and whether route of estrogen administration plays a role. We support transdermal estradiol in transwomen with or at risk of cardiovascular disease, and close monitoring of serum levels, as well as aggressive treatment of cardiovascular risk factors.
Presentation: No date and time listed