bluuebunny/crossref_metadata_2025 huggingface dataset:
Peer group-based online intervention program to empower families raising children with disabilities: protocol for a feasibility study using non-randomized waitlist-controlled trial
Authors: Matsuzawa Akemi , Wakimizu Rie , Sato Iori , Fujioka Hiroshi , Nishigaki Kaori , Suzuki Seigo , Iwata Naoko
Published: November 2022

Background

Families raising children with disabilities assume risks to their health and lives. Therefore, it is necessary to support these families to improve family empowerment, which is the ability of these families to control their own lives and to promote the collaborative raising of children with disabilities. This is the first online intervention program focusing on the empowerment of families raising children with disabilities who live at home in Japan.

Method

The program consists of four online peer-based group sessions. Moreover, the families engage in several activities in stages wherein they discover their own issues, find measures to resolve them, and take action, while visualizing interfamily relationships, including social resources, and the status of their family life, with facilitators and other peer members. This study is a non-randomized, waitlist-controlled trial. It compares the results of the intervention group (early group) and the waitlist-controlled group (delayed group). The participants are allocated to the early or delayed group in the order of their applications. The main outcome is family empowerment. Other outcomes are the caregiver burden, self-reported capability to use social resources, self-compassion, and the quality of life (QOL) of primary caregivers. The timeline of the online outcome evaluation is as follows: the initial evaluation (Time 1 [T1]) is conducted before the start of the first early group program, and post-intervention evaluation (Time 2 [T2]) is conducted immediately (within 1 week) after the early group completes all four sessions (4 weeks) of the program. Follow-up evaluation (Time 3 [T3]) is conducted 4 weeks after the post-intervention evaluation. This timing is the same in the delayed group, but the delayed group will attend the program after a 4-week waiting period, compared to the early group.

Discussion

The intention is to evaluate whether the provision of the program developed in this study and the evaluation test design are feasible and to verify the efficacy of this program.

Trial registration

The UMIN Clinical Trials Registry (UMIN000044172), registration date: May 19, 2021.
Anthropology and ethnic studies, Iran
Authors: Shahshahani Soheila
Published: November 2022

For writing this invited paper, I was given the title Ethnic Groups of Iran and I was also asked to inform the reader/audience about the general situation of anthropology in the country. Specific questions were asked and the first part of this paper responds to those questions. The second part can be best understood if at the time of the reading reference could be made to the site mentioned in the article.

A few articles and one book have discussed the history of the field of anthropology in Iran and they are discussed in this text. This field has had great difficulty trying to establish itself in the country due to the sensitivity of the political machine of the country which at times it did not really understand its topic, and at others was sensitive to the information it could bring from rural and pastoral areas of Iran to the center and critically consider the activities of the government. Transparency of political activities have always been at odds with social sciences, and this can clearly be seen in the problems anthropology has had to face to establish itself. The very name of the field has been problematic and this also shows the lack of discussion of the erudite of the field in a clear manner. Today this field is dispersed in various faculties of different universities and topics.

The second part of this paper concentrates on my own work on the ethnic groups of country, and a map and a site which I have made to represent the active cultural life of all different peoples of Iran. My anthropological knowledge has helped me to divide the work according first to subsistence (pastoral nomadic, rural and urban), and then according to cultural characteristics and my hope is to continue this work which has been a very important lack in Human Relations Area Files. So far I only have some titles in English, its translation into English could disseminate the information to the anthropological scientific world.
Aggressive challenging behavior in adults with intellectual disability: An electronic register-based cohort study of clinical outcome and service use
Authors: Smith James , Baksh R. Asaad , Hassiotis Angela , Sheehan Rory , Ke Chengcheng , Wong Tsz Lam Bambi ,   PETAL Investigators, Strydom André
Published: November 2022

Background

Aggressive challenging behavior in people with intellectual disability is a frequent reason for referral to secondary care services and is associated with direct harm, social exclusion, and criminal sanctions. Understanding the factors underlying aggressive challenging behavior and predictors of adverse clinical outcome is important in providing services and developing effective interventions.

Methods

This was a retrospective total-population cohort study using electronic records linked with Hospital Episode Statistics data. Participants were adults with intellectual disability accessing secondary services at a large mental healthcare provider in London, United Kingdom, between 2014 and 2018. An adverse outcome was defined as at least one of the following: admission to a mental health hospital, Mental Health Act assessment, contact with a psychiatric crisis team or attendance at an emergency department.

Results

There were 1,515 patient episodes related to 1,225 individuals, of which 1,019 episodes were reported as displaying aggressive challenging behavior. Increased episode length, being younger, psychotropic medication use, pervasive developmental disorder (PDD), more mentions of mood instability, agitation, and irritability, more contact with mental health professionals, and more mentions of social and/or home care package in-episode were all associated with increased odds of medium-high levels of aggression. Risk factors for an adverse clinical outcome in those who exhibited aggression included increased episode length, personality disorder, common mental disorder (CMD), more mentions of agitation in-episode, and contact with mental health professionals. PDD predicted better outcome.

Conclusions

Routinely collected data confirm aggressive challenging behavior as a common concern in adults with intellectual disability who are referred for specialist support and highlight factors likely to signal an adverse outcome. Treatment targets may include optimizing management of CMDs and agitation.
LBSUN131 Leptin Level, BMI And Genetics In Early Onset Obesity
Authors: Xu Xu , Volcotrub Egor , Ten Svetlana B
Published: November 2022

Objective

To evaluate leptin level and its association with BMI and genetic predisposition in cases of early onset obesity.

Methods

76 children (15.3 ± 10 yrs, 47 females) with morbid obesity (BMI of 41.7 ± 5.7 kg/m2) and 2 fathers and 5 mothers of these patients with BMI 47.8 ± 8.7 kg/m2 underwent genetic testing at the Prevention Genetics after obtaining consent. Leptin, Lipid profile, Glucose, Insulin, ALT, AST were measured.

Results

From 83 cases heterozygous polymorphism was found in 65 and in 18 genetic analysis was negative. | Patients were divided into 3 groups according to the leptin level. | 13 patients had leptin level less than 12 ng/ml (7.9 ± 2.5) (Group 1) (5 patients - no mutation, 8 with different combination of the genes: 1 with (BBS14 (CEP290) and BBS10), 2 BBS5, 2 SH2B1, 1 PLXNA3, 1 with (PCSK1 and ALMS1), 1 with BBS 20 (IFT172). Leptin didn't correlate with BMI in this group. | 6 patients had leptin elevated more than 50 ng/ml (74.5 ± 17.7) (Group 2). (1 patient – no mutation, 1 with KSR2, 1 with MCR4, 1 with SEMA3G, 1 with a combination of MCR4 and 2 different POMC, 1 with PLXNA4 and BBS15 (WDPCP). Leptin didn't correlate with BMI in this group. | 64 patients had leptin level (24.6 ± 9.4 ng/ml) expected for their BMI (42.7 ± 8.5 kg/m2) (Group 3). Leptin level correlated with BMI (r=0.37, P=0. 002). In group 3, Genetic analysis was negative in 12 patients, 1 gene was in 19 cases (KSR2 in 3, PCSK1 in 4, POMC in 2, others in 1: BBS 17(KZTFL1), BBS9, BBS21 (C8orf37), BBC20(IFT172), MCR4, MRAP2, PLXNA4, POMC, INPP5E, UCP3. | 2 genes in 25 cases: (BBS1, NTRK2), (BBS4, RAI1), (BBS4, PLXNA3) (BBS7, NTRK2), (BBS2, BBS9), (BBS9, MCR4),(BBS9, ADCY3), (BBS9, ALMS1), (BBS10, ALMS1), (BBS10, BBS22 (IFT74)), (BBS13 (MKS1), PCKS1), (BBS14 (CEP290), PCSK1), (BBS15 (WDPCP), PCSK1), (BBS18, POMC), (BBS20(IFT172), PCSK1), (BBS 22 (IFT74), SH2B1), (ALMS1,PCSK1), (ALMS1, BDNF), (SH2B1, NCOA1), (SH2B1, PCSK1), (SEMA3G, NTRK2), (SEMA3D, UCP3), (SIM1, NROB2), (KSR2, NTRK2), (MRAP2, RPGRIP1L). | 3 genes in 5 cases (BBS16 (SDCCAG8), BBS14 (CEP290), KIDINS220), (KSR2, ALMS1, PCNT), (KSR2, SEMA3G, NTRK2), (ALMS1, PCSK1, NCOA1), (BBS9, ALMS1, TRIM32)4 genes in 2 cases (BBS9, BBS11(TRIM32), ALMS1, POMC) and (BBS19 (IFT27), BBS 20 (IFT27), SEMA3B, PLXNA3). | 5 genes in 1 case (BBS12, BBS20 (IFT172), ALMS1, RPGRIP1L, SEMA3G). There were no differences in age, BMI, Hb A1c, SBP, DBP, Glucose, Insulin HOMA. ALT, AST, TG, and HDL levels between groups.

Conclusion

There is a high frequency of genes involved in cilia regulation like BBS and ALMS1 genes. Identifying patients with low leptin level for the degree of obesity can individualize treatment to decrease appetite and increase energy expenditure

Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
LBODP014 Hyperaldosteronism Caused By Adrenal Cyst
Authors: Vargas Laura Valentina Estupiñan , Gonzalez Juanita , Garcia Ramos Andres Felipe , Monsalve Claudia , Pompey Nestor Alfonso Lopez , Torres Jose Luis , Dueñas Juan Pablo , Buenaventura Daisy , Vargas Hernando , Ramirez Alex , Daguer Salomon
Published: November 2022

Introduction

Cyst adrenal lesions are uncommon with a reported incidence in autopsies of 0. 064% to 0.18%. Functional adrenal cysts are rarer, to our knowledge with 3 cases reported in the literature, 2 producing catecholamines and 1 producing aldosterone. Clinical case: A 39-year-old male patient with arterial hypertension since the age of 38 without target organ involvement or hydroelectrolytic alterations was taken to studies of secondary hypertension, as a positive finding we found aldosterone in 10.5 ng/dl (n <10 ng/dl) and direct renin 0. 0296 mU/L (n >1 mU/L) for an aldosterone-renin ratio of 354 (n <3.7); Confirmation of hyperaldosteronism was performed with a saline solution suppression test, with basal aldosterone of 14.4 ng/dl and post saline of 9.53 ng/dl. (n <5ng/dl). He was taken to localization studies with contrast-enhanced CT scan of the abdomen, finding a low-density left adrenal adenoma. A laparoscopic adrenalectomy was performed, on pathology an adrenal cyst was report without nodular lesions. 4 months later clinical and biochemical resolution was confirmed.

Conclusion

This patient is the 4th case published in the literature of a biochemically confirmed functional adrenal cyst, which is important in order not to rule out the presence of adrenal cysts as a possible etiology of hormone overproduction.

Presentation: No date and time listed
LBSAT62 Incidental Diagnosis Of Pheochromocytoma With Left Ventricle Hypertrophy And Bradycardia In A Normotensive Patient
Authors: Eid Mennaallah , Zahra Tasneem , Vargas-Jerez Julia
Published: November 2022

Introduction

Pheochromocytoma is a rare catecholamine secreting tumor. It can be associated with multiple endocrine neoplasia type 2(MEN 2), neurofibromatosis type 1 and von hippel-lindau syndromes(1).

Case

36 year old afro american male with no pervious medical or surgical history. Drinks alcohol occasionally. no regular medications or known allergies. Family history is positive for mother with hypertension. He was referred to endocrinology clinic after incidental finding of a left adrenal mass in CT scan. The CT abdomen and pelvis with contrast showed heterogenous enhancing mass in the left adrenal gland of 5.5×4.1×5.3centimeters compressing the anterior margin of left kidney with necrotic and cystic foci. Review of systems was negative, denied headache,palpitations, seizure, sweating and weight loss. Physical examination was remarkable for bradycardia with heart rate of 50BPM. Laboratory work up was significant for high plasma metanephrine 2070 pg/ml normal less than 88, normetanephrine 1983pg/ml normal less than 110, chromogranin A 1259ng/ml normal less than 101.8, 24hr urine metanephrine 13342ug/24hr normal between 58 and 276 and 24hr urine normetanephrine 6596 ug/24hr normal between 156 and729. Thrombocytosis and macrocytic RBCs.12 Lead electrocardiogram showed sinus bradycardia 50BPM with left ventricle hypertrophy Sokolow-Lyon criteria. MRI abdomen showed 4.9×3.8×5.3 centimeters solid mass in the left adrenal gland. MIBG Scan showed intense radiotracer accumulation in the left adrenal gland. He was kept on alpha blockers for three weeks and beta blocker was added in the last week with intravenous fluids on the day of surgery. He underwent uneventful left laparoscopic adrenalectomy. Histopathology showed a 6cm focal non neoplastic pheochromocytoma in the left adrenal gland with negative surgical margins. Genetic test for MEN2A/B-RET was negative.

Conclusion

pheochromocytoma has a variable clinical presentations. The classis triad of episodic headache, sweating and palpitations is infrequent. It can present with electrocardiogram changes of left ventricle hypertrophy without high blood pressure. Rare cases have bradycardia. The secreted interleukins and inflammatory markers can cause thrombocytosis. Treatment is surgical resection with preoperative alpha and beta blockage. Long term follow up is recommended for the recurrence(2). References: | Neumann HPH, Young WF Jr, Eng C. Pheochromocytoma and Paraganglioma. N Engl J Med 2019; 381: 552. Nazari MA, Rosenblum JS, Haigney MC, Rosing DR, Pacak K. Pathophysiology and acute management of tachyarrhythmias in pheochromocytoma: JACC review topic of the week. J Am Coll Cardiol. (2020) 76: 451-64. doi: 10.1016/j. jacc.2020. 04. 080 |

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
ODP293 Aberant Expression of SF-1 Transcription Factor in ACTH-secreting Pituitary Tumors: Possible Association With Aggressive Disease Evolution
Authors: Nastase Valeria , Burcea Iulia Florentina , Ceausu Amalia Raluca , Cimpean Anca Maria , Raica Marius , Poiana Catalina
Published: November 2022

Cushing's disease represents a rare endocrine disorder caused by hypercortisolism due to an ACTH-secreting pituitary tumor. Pituitary adenomas (PAs) are mostly benign tumors but may have features of invasiveness and aggressiveness. They are clinically classified by their hormone-secreting characteristics. Expression of pituitary hormones in adenohypophyseal cells is controlled by several transcription factors (PIT1 for GH, PRL and TSH lineage, SF1 for gonadotroph lineage and TPIT for ACTH lineage). Eight cases of Cushing's disease (CD) were included in the current study. The diagnostic was sustained by clinical features, hormonal assessment, and radiological findings (pituitary CT or MRI). All patients underwent surgical removal of pituitary tumor using transsphenoidal resection. All tissue specimens were evaluated using histological routine staining (hematoxylin and eosin) and immunohistochemical staining for vimentin, pituitary hormones (GH, PRL, TSH, FSH, LH, ACTH), and transcription factors (PIT1, TPIT, SF1). The intensity IHC scores ranged from 0 to 3+ and a staining higher than 30% (2+) was considered positive for interpreting the results. Based on the histopathological and immunohistochemical data correlated with the evolution of the disease (remission versus persistent disease), five molecular subgroups were identified. Subgroups 1 to 3 had a positive expression of ACTH and TPIT, with variations regarding SF1 expression: there was no expression in subgroup 1, nuclear positivity in 2, and cytoplasmic reaction in 3. Subgroups 4 and 5 consisted of plurihormonal adenomas with unusual immunohistochemical combination. They had IHC positive score for ACTH, GH, TPIT and were differentiated by the expression of SF1: lack of expression in subgroup 4 and intense cytoplasmic reaction in 5. The expression of SF1 was linked to the evolution of the disease, patients from subgroups which did not have SF1 cytoplasmic reaction (1, 2, 4) had remission of CD, while patients in subgroups 3 and 5 had persistent disease (including one case who evolved to exitus due to cardiovascular complications of the severe hypercortisolism). Transcription factors evaluation is important for classifying pituitary adenomas and finding clinicopathological correlations with the aim of providing a better therapeutical approach. In the current study, although SF1 is a marker of gonadotroph lineage (1), its aberrant cytoplasmic expression in CD may contribute to an aggressive evolution and to other cell lineage differentiation (PIT1, TPIT). Neou M et al, Pangenomic Classification of Pituitary Neuroendocrine Tumors. Cancer Cell. 2020 Jan 13;37(1): 123-134. e5. doi: 10.1016/j. ccell.2019.11. 002. Epub 2019 Dec 26. PMID: 31883967.

Presentation: No date and time listed
ODP304 Cyclic Cushing Disease: A Diagnostic Challenge
Authors: Zubiran Rafael , Gómez-Pérez Francisco J , Cuevas-Ramos Daniel
Published: November 2022

Background

Cyclic Cushing syndrome is a clinical challenging diagnosis due to an unpredictable duration of periodic hypercortisolemia shifting with normocortisolemia periods. Only small proportion of such cases are due to a corticotroph pituitary adenoma with cyclic activity. Clinical case: 27-year-old after she stopped nursing her baby, she had no resumption of menses. She then developed mild headache and weight gain of 20kg throughout 3 months. She also developed facial hair, acne, easy bruising and striae. She was evaluated by a local physician where Cushing syndrome (CS) was suspected. Local testing showed the following results: UFC: 1117 and 1572 mcg/24h (<403mcg/24h), low dose DST of 595.8 nmol/l (<50nmol/l) and ACTH 60 pg/mL (10-100pg/mL). An MRI identified a 6 mm pituitary adenoma. The patient was sent to our pituitary clinic under the diagnosis of Cushing disease (CD). Upon examination at our institution, the patient reported asthenia, mood changes, depression and hirsutism. The physical examination revealed classical signs of CS. No other comorbidities were detected. A seven-hour 7mg dex infusion testwas performed (1), with basal cortisol of 187.5 nmol/l, early suppression of 12.6 nmol/l and late suppression of 27.5 nmol/l which is negative for hypercortisolism. As the high suspicion of CS, the patient was followed monthly with UFC and serum cortisol. During this normocortisolemia period the patient lost 10kg of weight, recovered its menses and coloration changes of striae. Laboratory follow up UFC of 67, 71 mcg/24h and serum cortisol of 124, 270, 103.4, 358.6 and 413 nmol/l ACTH 20, 21, 23, 28, 25 pg/mL. After 6 months of no clinical sign of hypercortisolism the patient reached to us as she noticed her striae changed, started gaining weight, lost menses and changed headache frequency. Laboratories revealed UFC was 754.6 mcg/24h and low dose DST was 751.1 nmol/l and ACTH of 70 pg/mL. We conducted another continuous 7mg dex infusion for seven hours with basal cortisol of 669.2 nmol/l, early suppression of 90.2 nmol/l (>50% suppression) and late suppression of 691.5 nmol/l which was compatible with CD. Additional testing was performed, with a 18F-NOTA-Octreotide and a full body CT that did not reveal an ectopic ACTH producing tumor neither an adrenal mass. Patient underwent a transsphenoidal surgery and reached remission of her hypercortisolism.

Conclusion

CD may be difficult to be confirmed but also it is important to consider that some cases showed cyclic activity. As far as we could acknowledged, this is the first case showing a 6-month period of normocortisolemia in a cyclic ACTH-secreting pituitary adenoma.

Bibliography

Biemond P, de Jong FH, Lamberts SW. Continuous dexamethasone infusion for seven hours in patients with the Cushing syndrome. A superior differential diagnostic test. Ann Intern Med. 1990 May 15;112(10): 738–42.

Presentation: No date and time listed
ODP307 Does Size Matter: A Case of a 16cm Pheochromocytoma
Authors: Sotomayor Fiorella , Kroopnick Jeffrey
Published: November 2022

Background

Pheochromocytomas are catecholamine producing tumors that arise from chromaffin cells. The incidence is of 0.6 cases per 100,000 person-year. Although rare, it is an unpredictable and dangerous tumor that can lead to a fatal catecholamine induced cardiovascular accident. Typical symptoms include profuse sweating, palpitations, headaches, paroxysmal hypertension, anxiety, chest pain. Occasionally, the tumor can present as an asymptomatic incidentaloma.

Case

A 55-year-old patient with no significant past medicalor family history presented to the emergency department (ED) with right lower quadrant abdominal pain. CT abdomen/pelvis demonstrated acute appendicitis and an incidental finding of a 15×10×11.8 cm left adrenal mass. The patient denied episodic headaches, palpitations, diaphoresis, chest pain, and anxiety. On exam, patient's vital signs included a blood pressure of 112/77 mmHg and pulse rate of 88 bpm. Further, there was no evidence of hypercortisolism including moon facies, acanthosis, hirsutism, abdominal striae, or proximal muscles weakness. He subsequently underwent biochemical testing which revealed 24-hour urine metanephrines of 1131 ug/d (55-320ug/d), normetanephrine of 6450 ug/g (0-330 ug/g), mildly elevated urine cortisol of 130.6 ug/d (<60 ug/d) and DHEAS of 73 ug/dL (70-130 ug/dL). In preparation for surgery, alpha blockade was initiated. He underwent successful left adrenalectomy with pathology revealing pheochromocytoma of 16 cm, focally invading the extra-adrenal adipose tissue and with a pheochromocytoma of the adrenal gland score (PASS) of 11, suggestive of high-risk disease. Biochemical testing, including a 24-hour urine and serum metanephrines, obtained approximately 6 weeks post-operatively were normal. Genetics evaluation is currently pending.

Conclusions

Although pheochromocytomas are known to manifest as the classic triad of palpitations, sweating and headaches, up to 20% can be asymptomatic. Giant pheochromocytomas, defined as size greater than 10 cm, are commonly asymptomatic, hence biochemical testing should be done regardless of absence of symptoms. References: Kota S et al. Pheochromocytoma: An Uncommon Presentation of an Asymptomatic and Biochemically Silent Adrenal Incidentaloma. Malays J Med Sci. Apr-Jun 2012; 19(2): 86-91. Maharaj R, Parbhu S, Ramcharan W, et al. Giant cystic pheochromocytoma with low risk of malignancy: a case report and literature review. Case Rep Oncol Med 2017; 2017

Presentation: No date and time listed
ODP318 Idiopathic Granulomatous Hypophysitis : A Rare Cause of Hypopituitarism
Authors: Vemparala Pranathi , Zare Ahmad , Choudhry Sara
Published: November 2022

Introduction

Pituitary hypophysitis is an inflammatory disorder classified as primary or secondary. The five histologic subtypes of primary hypophysitis are lymphocytic, granulomatous, xanthomatous, IgG4-related, and necrotizing. Idiopathic granulomatous hypophysitis (IGH) has an incidence of 1 in 10 million and accounts for < 1% of cases involving panhypopituitarism, headache, and visual disturbances. We present the case of IGH in a patient initially suspected to have pituitary adenoma.

Case Presentation

A 54-year-old female with a history of hypertension presented to the emergency department with nausea, vomiting, and acute worsening of a chronic headache of 1-week duration. Her past medical history was significant for a suspected pituitary macroadenoma of 1.7 cm, which was incidentally detected 7 months before the current presentation. She reported a history of 9 lb weight gain in one month, hot flashes, and diplopia, but denied hirsutism, polyuria, polydipsia, and galactorrhea. Prior evaluation revealed normal prolactin, TSH, and visual field testing. Her medication and familial history were unremarkable. Physical exam during the current presentation revealed stable vital signs, left eye exophthalmos, left anisocoria, decreased sensation in the left V1 and V2 trigeminal nerve distribution, and right abducens nerve palsy. Her initial laboratory workup was consistent with panhypopituitarism. Brain Magnetic Resonance Imaging (MRI) revealed an extensive, locally invasive, exuberantly enhancing infiltrative process measuring at least 5.6 cm in maximal transverse diameter involving the pituitary gland with bilateral cavernous sinus and Meckel's caves invasion and extension into bilateral superior orbital fissures. The patient underwent supraorbital craniotomy with subtotal resection of the tumor. Tuberculosis, sarcoidosis, and neoplasm were ruled out by appropriate tests, and the patient was diagnosed to have IGH on histology. Her symptoms improved postoperatively and the patient was discharged on levothyroxine and hydrocortisone.

Conclusion

Clinically and radiologically, IGH is a rare pathology that can closely mimic a pituitary adenoma. Through this case, we highlight the importance of performing a comprehensive evaluation with a full hormonal workup and imaging, with the exclusion of secondary causes while assessing patients with a sellar mass.

Presentation: No date and time listed
ODP320 Immune Organs Enlarged in Acromegaly: Evaluation of Thymus Volume in Patients with Acromegaly
Authors: Nahit Sendur Suleyman , Koylu Nur Yazdali , Basaran Hasbi , Firlatan Busra , Dagdelen Selcuk , Ariyurek Macit , Erbas Tomris
Published: November 2022

Objectives

The thymus is an important immunological organ where T cell maturation takes place, especially in the early stages of life. Animal studies have shown that the structure and functions of the thymus are controlled by hormones. Growth hormone (GH) and insulin-like growth factor-1 (IGF-1) stimulate both thymic epithelial cells and thymocytes. This causes an increase in the number of cells and the secretion of cytokines. These effects of GH and IGF-1 on the thymus have not yet been confirmed in humans. We have hypothesized that, acromegaly with chronic GH and IGF-1 elevation, may change the volume and the functions of the thymus. In this study, we have examined the thymus volume in patients with acromegaly.

Materials and Methods

In this single center study, 393 patients with acromegaly were retrospectively evaluated to identify patients who underwent chest CT for any reason before and/or after pituitary surgery. Since 64 patients in the acromegaly group had chest CT, we also selected 64 patients as an age- and sex-matched control group among trauma patients without any known disease who admitted to the emergency department. All chest CT images were reassessed by a radiologist to detect the thymus gland and calculate its volume (if visible) who was unaware of clinical data. The frequencies and volumes of visible thymus glands were compared between acromegaly and control groups.

Results

Mean (±SD) age was 49.9±13.8 years in acromegaly group and 51.7±14.1 years in control group(p= 0.32). Twenty-seven patients (42.2%) from each group were female. Median (IQR) GH levels were 10. 0 (21.1) ng/mL and mean±SD IGF-1 levels were 729.5±283.5 ng/mL. While 51 patients (79.7%) had a visible thymus gland at chest CT in acromegaly group, only 29 patients (45.3%) had a visible thymus gland in control group (p<0. 001). Median (IQR) values for the volumes of visible thymus glands in acromegaly and control groups were 13. 0 (9.4) cm 3 and 10.3 (7.6) cm 3, respectively (p=0. 014). There was no correlation between thymus gland volume and GH(r=-0. 02; p= 0.91) and IGF-1(r=0.11; p=0.49) levels. In acromegaly group, six patients had a visible thymus gland on both preoperative and postoperative chest CTs. After surgery, hormonal remission was achieved in four patients and thymus gland volume decreased in three of them (Patient 1: 15.26 to 17.23, Patient 2: 22.66 to 15.88, Patient 3: 19. 00 to 11.80 and Patient 4: 17.78 to 12. 07 cm 3). Volume increase was observed in two uncontrolled patients (Patients 5: 12.45 to 15.42, Patient 6: 6. 05 to 19.59 cm 3).

Conclusion

This study has firstly shown that, the thymus is enlarged in patients with acromegaly. Effective control of the disease reduces thymus volume. Further research is needed to elucidate this association and its putative clinical implications.

Presentation: No date and time listed
ODP321 Impact of a Maternal High-Sucrose Diet in Rats on Fetal Physiology and the Placenta
Authors: Seib Desiree R , Kachkovski George V , Rutledge Griffin S , Jung Minseon M , Chen Hui W , Bodnar Tamara S , Price Hayley R , Collier Abby C , Soma Kiran K
Published: November 2022

Consumption of sucrose (table sugar) is high in much of the world. The effects of maternal sucrose intake on the placenta and fetal brain remain unknown. In rats, maternal consumption of sucrose at a human-relevant level alters the mother's physiology and steroids, as well as the adult offspring's brain and behavior. Effects in mothers are impaired glucose tolerance, increased liver lipids, increased adipose inflammation, and decreased corticosterone levels in the blood but not in the brain. In contrast, in adult female offspring, maternal sucrose intake increases corticosterone levels in the blood and the brain. In adult male offspring, maternal sucrose intake increases preference for high-sucrose and high-fat diets as well as motivation for sugar rewards in a progressive ratio task. In this study, we investigate the underlying mechanisms of the observed behavioral and endocrine effects in the adult offspring. We examine anti-inflammatory steroids, steroidogenic enzymes and cytokines in the placenta, amniotic fluid, fetal blood and brain. In our model, we feed rat dams either a high-sucrose diet (26% of kCal) or an isocaloric, matched, control diet (1% sucrose) 10 weeks prior to and during gestation. At embryonic day 19 (E19), we collected maternal serum, placenta, amniotic fluid, fetal blood, and fetal brain. We used Palkovits punch to microdissect the placenta and fetal brain. Next, we used liquid chromatography-tandem mass spectrometry (LC-MS/MS), which is highly sensitive and specific, to measure multiple steroids (e. g. corticosterone, estrone, allopregnanolone). We examined multiple regions of the fetal brain (e. g. prefrontal cortex, nucleus accumbens, hypothalamus, hippocampus). We will also examine neuronal proliferation, microglia and tyrosine hydroxylase immunoreactivity in the fetal brain. Maternal high-sucrose diet increased 11-dehydrocorticosterone (inactive metabolite of corticosterone) and aldosterone in maternal serum and amniotic fluid. Testosterone and androstenedione were significantly higher in the amniotic fluid of male fetuses than female fetuses. Placental steroidogenic enzymes 3β-HSD and CYP19 were not affected by maternal diet or fetal sex; however, 3β-HSD activity was higher in the decidua than in the fetal part of the placenta. Steroid and cytokine data from the placenta, fetal blood and fetal brain are currently being analyzed. Ongoing analyses examine how a maternal high-sucrose diet affects brain development possibly by increasing inflammation.

Presentation: No date and time listed
ODP327 Joint Pain Score is Higher in Acromegaly Patients Despite Pain Relief Therapy and Joint Surgeries.
Authors: Ahmad Syed , Clarke David , Constance Chik , Ladouceur Michel , Stan VanUum , Tramble Lisa , Chen Kevin , Imran Syed , Wang Yuqi , Title Michaela , Steeves Keillor , Ibrahim Aisha
Published: November 2022

Objective

Arthropathy is common in acromegaly (ACRO) and profoundly impacts patients’ quality of life. The aim of this study was to compare joint pain score, usage of pain relief therapy and history of joint surgery between patients with history of ACRO and patients with non-functioning pituitary adenoma (NFA) who had previously undergone surgery.

Methods

Sex- and age-matched participants (n=34 for both groups) were recruited from the Halifax Neuropituitary Program to complete an online survey. All ACRO patients were in remission with or without medical therapy. An anchored visual analog scale (0-100 mm) was employed to assess joint pain, and additional questions assessed usage of pain relief therapy and history of joint surgeries. Demographic and joint pain data were compared using paired t-tests, whereas usage of pain relief therapy and history of joint surgeries were compared using exact McNemar's tests.

Results

Height and weight were not significantly different between the ACRO and NFA groups; (height: 171.2±11.3 cm vs. 171.9±9.6 cm, p=0.796; weight: 88.9±20.6 kg vs. 94.2±27.8 kg, p=0.350), respectively. At the time of original presentation, ACRO patients were significantly younger than NFA patients (44.4±13. 0 yrs vs55.9±10.5 yrs, p <0. 001). Joint pain scores were significantly higher for ACRO than for NFA for shoulder (23.6±30.1 mm vs. 8.3±17.2 mm, p=0. 013), back (38.5±34.5 mm vs. 20. 0±25.9 mm, p=0. 012), hip (27.4±27.7 mm vs. 9.2±17.1 mm, p=0. 004), and knee (25. 0±27. 0 mm vs. 11.9±20.1 mm, p=0. 026), while no significant differences were found for the hand/wrist, elbows, neck, and ankle/foot. Despite these differences in joint pain scores, usage of pain relief therapy was not significantly different between groups (p=0.143), and no significant differences in joint surgery history were found for any joint (hand/wrist, elbow, shoulder, neck, back, hip, knee, ankle/foot: Range p: 0.25-1). Similarly, no significant differences were revealed between groups for number of patients with surgery on 1 joint (p=0.581), 2 joints (p=1), >3joints (p=1) or no history of joint surgery (p=0.815).

Conclusion

Patients with ACRO had higher pain scores for shoulder, hips, knees and back despite no differences in usage of pain relief therapy or history of joint surgeries when compared with NFA. This raises the question if ACRO patients are potentially being undertreated for joint symptoms. Additionally, the pattern of joint involvement is somewhat distinct in ACRO such that larger and proximal joints are more typically involved.

Presentation: No date and time listed
ODP329 Long-term Effect of Daily Growth Hormone Replacement Therapy on Glucose Tolerance in Adult growth Hormone Deficiency
Authors: Bando Hironori , Fukuoka Hidenori , Iguchi Genzo , Kanie Keitaro , Ogawa Wataru , Shichi Hiroki , Suzuki Masaki , Takahashi Michiko , Takahashi Yutaka , Urai Shin , Yamamoto Naoki , Oi Yuka , Yamamoto Masaaki , Sasaki Yuriko
Published: November 2022

Background

Growth hormone replacement therapy (GHRT) in adults with growth hormone deficiency (AGHD) has shown to improve body composition, lipid and bone metabolism, and quality of life (QOL), but its effect on glucose tolerance can be bidirectional.

Objective

To investigate the long-term effect of GHRT on glucose tolerance in AGHD patients.

Patients and Methods

We conducted a retrospective single-center study at Kobe University Hospital. One hundred twenty-five AGHD patients who had visited our department since January 2011 to September 2021 were enrolled. The exclusion criteria was as follows: Patients 1) who never received GHRT 2) whose HbA1c was 6.5% or higher, or under antidiabetic drugs before GHRT, 3) not available data on HbA1c at baseline or after GHRT 4) with functional pituitary adenomas, 5) who had initiated GHRT at childhood and had discontinued GH for less than 1year due to transition, 6) who receiving supraphysiological doses of steroid therapy, 7) GHRT interruption period for more than 1 year or its initiation from less than 2 months. Fifty-three AGHD patients eventually met the inclusion criteria. We collected data at baseline, 3, 6, 12 months after treatment, and at each patients’ last visit. The influence of GHRT on glucose metabolism and its associated factors were analyzed. All data were presented as median [interquartile range].

Results

Fifty-three patients (27 female (51. 0%), 14 childhood onset (26.4%), age at GH initiation was 45 [32 - 60] years, the duration of GHRT was 4 [2 - 6] years) were analyzed. Both IGF-I levels and IGF-I SDS increased at the last visit compared to baseline: 56 [38 - 88] to 119 [84.5 - 181] ng/mL (P<0. 01), and -3.4 [-5.1 - -2.4] to -0.2 [-1.8 - 1.1] (P<0. 01), respectively. Waist circumference and BMI remained unchanged: 85 [78 - 90.5]cm to 78.5 [72.1 - 86. 0]cm (P=0.18), 23.1 [21.3 - 26.3] kg/m 2 to 22.9 [21.9 - 26.8] kg/m 2 (P=0.53), respectively. HbA1c at baseline, 3, 6, 12 months after treatment, and the last visit were unchanged: 5.7[5.4 - 5.9]%, 5.7 [5.5 - 5.9]%, 5.8 [5.5 - 6. 0]%, 5.7 [5.5 - 6. 0]%, and 5.7 [5.5 - 6. 0]% (P=0.27). Based on the amount of change in HbA1c (ΔHbA1c) between baseline and at the last visit, we divided into two groups; Elevated/ Unchanged (E/U), and Reduced (R). Interestingly, the amount of change in BMI increased in E/U group but decreased in R group (0.9[-0.1–1.8] vs. -1.2[-1.4 - -0.1], P=0. 02).

Conclusions

Overall, GHRT was safely used in regard with impaired glucose tolerance at least non-diabetes mellitus patients with AGHD. Among them, cases with impaired glucose tolerance during GHRT were associated with increased BMI.

Presentation: No date and time listed
ODP344 Pituitary lymphoma: A case series in a referral center in Mexico City
Authors: Cuenca Dalia , Tovar-Mendez Victor Hugo , Gómez-Pérez Francisco , Toy Brandon Altar-Trejo , Cuevas-Ramos Daniel
Published: November 2022

Malignant lymphoma of the pituitary gland is extremely rare. The most common form of CNS involvement in lymphoma is leptomeningeal metastases, but it can also affect the spine or the cerebral parenchyma. Pituitary involvement usually presents as diabetes insipidus but can also present as hypopituitarism if there is adenohypophyseal destruction and may also present as bitemporal hemianopsia. (1)We present a case series of four patients with metastatic lymphomas to the pituitary gland that presented with diabetes insipidus to a tertiary center in Mexico City. Our investigation identified 4 patients with a previous diagnosis of lymphoma (3 B cell non-Hodgkin and 1 Hodgkin lymphoma) that were admitted into the endocrinology clinic with evidence of pituitary involvement and metastases to the pituitary gland. The average age of the cases was 54.5 years. 1 of the 4 patients had a diagnosis of HIV infections prior to the diagnosis of the lymphoma. Diabetes insipidus was present in 100% of the patients, while headache (75%) and visual field defects (50%) were the most common findings at presentation. Two of the patients also had involvement of the adenohypophysis and had hypocortisolism and central hypothyroidism that required hormone replacement therapy. All cases were documented by a lesion in the contrast enhancing lesion on MRI. Lymphoma involving the pituitary gland is particularly rare. In our series, involvement of the posterior pituitary was the most common form of presentation in contrast to the reported in other series, but the clinical presentation can be heterogenous, hence, it is important to perform an extensive endocrinological examination when pituitary involvement is suspected.1. Mathiasen RA, Jarrahy R, Cha ST, et al. Pituitary lymphoma: a case report and literature review. Pituitary. 2000;2(4): 283-287. doi: 10.1023/a: 1009969417380

Presentation: No date and time listed
ODP366 Copeptin Improves Prediction of Treatment Response in Children With Monosymptomatic Nocturnal Enuresis
Authors: Sailer Clara O , Gaisl Odile C , Beglinger Svetlana , Sommer-Joergensen Vivienne , Frech-Dörfler Martina , Christ-Crain Mirjam
Published: November 2022

Background

Monosymptomatic nocturnal enuresis, bedwetting of children older than 5 years, affects 10% of children, and increases psychosocial burden. Monosymptomatic nocturnal enuresiscan be treated with DDAVP, a vasopressin analogue. Not all children respond to DDAVP treatment, and no reliable treatment predictor has yet been established. We hypothesise that plasma copeptin, a surrogate marker for vasopressin, can be used to predict treatment response to DDAVP in children with monosymptomatic nocturnal enuresis.

Methods

In this prospective observational study, we included 28 children with monosymptomatic nocturnal enuresis. Number of wet nights were assessed prior to starting, 4 weeks, and 12 weeks following treatment with DDAVP. Plasma copeptin was measured in the morning and evening prior to starting DDAVP treatment and after 4 weeks of treatment. Initial daily dose wasDDAVP 120 mg and was increased to DDAVP 240 mg in children where treatment response was insufficient after 4 weeks. Treatment response was defined as >50% reduction in wet nights and divided into partial treatment response (50-99% reduction of wet nights per week) and complete treatment response (100% reduction of wet nights). The primary endpoint was prediction of treatment response following 12 weeks of treatment with DDAVP using plasma copeptin ratio (evening/morning copeptin) at baseline.

Results

Median [IQR] age of children with monosymptomatic nocturnal enuresis was 10 years [8. 0, 11.2], 75% were male. Median [IQR] number of wet nights at baseline was 5. 0 [2.8, 7. 0]. 18 children responded to DDAVP treatment at 12 weeks (partial treatment response 10 children, complete treatment response 8 children). To predict overall treatment response, the best copeptin ratio cut-off was 1.34 (sensitivity 55.56%, specificity 94.12%, AUC 70.6%). To predict partial treatment response, the best copeptin cut-off was 1.3 (sensitivity 55.56%, specificity 100%, AUC 73. 0%). To predict complete treatment response, the best copeptin cut-off was 1.34 (sensitivity 31.25%, specificity 90%, AUC 54.1%). In contrast, neither number of wet nights at baseline, age, BMI, or serum sodium alone or in combination with plasma copeptin improved outcome prediction.

Discussion

Our results indicate that plasma copeptin ratio is the best predictor for treatment response in children withmonosymptomatic nocturnal enuresis. Plasma copeptin ratio could thus be useful to identify children with the highest benefit of DDAVP treatment and improve individualized treatment of monosymptomatic nocturnal enuresis.

Presentation: No date and time listed
ODP576 A pilot randomized clinical trial of intranasal oxytocin to promote weight loss in children, adolescents, and adults with hypothalamic obesity
Authors: Bamba Vaneeta , Cilenti Nicolette , Crowley Julia , Dedio Anna E , Fisher Michael J , Hocking Matthew C , Lawson Elizabeth A , Plessow Franziska , Roizen Jeffrey D , Vetter Victoria L , Wade Kristin L , Wang Zi C , Xiao Rui , McCormack Shana
Published: November 2022

Many individuals with brain tumors affecting the hypothalamus and pituitary gain weight excessively after tumor treatment. There is currently no FDA-approved treatment for this condition, which is called hypothalamic obesity. In animals and in some preliminary studies in humans, the hypothalamic hormone oxytocin impacts metabolism, and may be deficient in individuals with hypothalamic obesity. Therefore, we performed a randomized, double-blind, placebo-controlled, cross-over trial to test the effects of 8 weeks of intranasal administration of oxytocin as compared to placebo on body weight in children, adolescents, and young adults (ages 10-<35y) with excess weight gain related to hypothalamic/pituitary brain tumors (N=13). We did not detect an effect of oxytocin on body weight or other metabolic measures. Overall oxytocin appeared well-tolerated, with most side effects being mild and not different from placebo. Our pilot study yielded several other lessons. First, affected individuals have many other medical problems. Also, individuals with hypothalamic obesity also differ from each other with respect to factors that impact body weight (e. g., appetite and eating behavior) and thus future larger studies could test different individualized dosing strategies, combination therapies, and a wider scope of outcomes to examine further the potential value of oxytocin treatment in this disorder. Keywords: Craniopharyngioma, Hypothalamic Dysfunction, Hypothalamus, Obesity, Weight Loss.

Presentation: No date and time listed
ODP587 A Case of Rathke'S Cleft Cyst Presented With Central Diabetes Insipidus In A Young Female
Authors: Das Niladri , Baidya Arjun , Tarenia Silima Subhasnigdha , Hathi Deep , Gaikwad Prashant Manohar , Pathak Yashaswi , Banerjee Abhirup , Chatterjee Mounam , Goswami Soumik , Sengupta Nilanjan
Published: November 2022

Introduction

Rathke's cleft cysts (RCC) are cystic sellar and suprasellar lesion derived from remnant of Rathke's pouch. RCC are mainly asymptomatic, but can present with headache, visual disturbance, panhypopituitarism, hypothalamic dysfunction when it enlarges causing compression to the surrounding structure. Diabetes insipidus as a presenting feature of RCC is rare. Even it presents with diabetes insipidus, it occurs more in elderly.

Clinical Case

A 32-year-old married female, mother of one child, having normal menstrual cycle presented with polyuria, polydipsia of recent onset. Clinical examinations was normal. Serum creatinine, potassium, calcium, plasma glucose were within normal range. Anterior pituitary hormonal evaluation was normal. Serum sodium was in the upper range of normal. Basal urine osmolality and serum osmolality were 87.49 mosm/kg (150 -1150 mOsm/kg) and 287 mOsm/kg (275 -295 mOsm/kg) respectively. Water deprivation test followed by vasopressin challenge test was done, which revealed partial central DI. Magnetic resonance imaging revealed a sellar cystic lesion hyperintense on both T1 and T2 weighted images, suggestive of rathke's cleft cyst and posterior pituitary bright spot was not visible. Tablet desmopressin 50 mcg twice daily was given and within two days patient responded well to the treatment. Urine volume reduced to 2.5 litres/day and water intake reduced to 3. 0 litres/day.

Conclusion

This is a rare case of Rathke's cleft cyst, presenting as diabetes insipidus as the sole manifestation in a young lady.

Presentation: No date and time listed
ODP653 DNA Methylation Markers Detected in Liquid Biopsy Specimens Differentiate Pituitary Neuroendocrine Tumors from Other Sellar and CNS Diseases
Authors: Castro Ana Valeria , Herrgott Grayson , Asmaro Karam , Wells Michael , Sabedot Thais , Barnholtz-Sloan Jill , Sloan Andrew , Selman Warren , Noushmehr Houtan , Rock Jack
Published: November 2022

Background

DNA methylation abnormalities are pervasive in pituitary neuroendocrine tumors (PitNETs). The feasibility to detect these molecular alterations in circulating cell-free DNA (cfDNA) has been reported for several central nervous system tumors but not across PitNETs.

Hypothesis

PitNET-specific methylation signatures detected in liquid biopsy specimens differentiate PitNETs from other sellar diseases.

Method

We profiled the cfDNA methylome (EPIC array) of 44 serum and 34 plasma liquid biopsy (LB) specimens from patients with PitNETs and other CNS (craniopharyngiomas, other pituitary diseases, gliomas, meningiomas) or nontumor conditions, grouped as non-PitNET.

Results

Our results indicated that, despite quantitative and qualitative differences between serum and plasma cfDNA composition, both sources of LB showed that patients with PitNETs presented a distinct methylome landscape compared to non-PitNETs. In addition, LB methylome captured epigenetic features reported in PitNET tissue. Using LB-derived PitNETs-specific signatures as input into a machine-learning algorithm, we generated a score that distinguished PitNETs from other pituitary and CNS diseases with high accuracy in an independent set.

Conclusions

Our results underpin the potential application of a methylation-based LB as a noninvasive approach to identify clinically relevant epigenetic markers to diagnose and potentially impact the management of patients with PitNETs.

Presentation: No date and time listed