bluuebunny/crossref_metadata_2025 huggingface dataset:
Multi-objective optimization design for steel-aluminum lightweight body of pure electric bus based on RBF model and genetic algorithm
Authors: Jiang Wuhua , Zhang Yuexin , Liu Jie , Zhang Daisheng , Yan Yajie , Song Chuanzheng
Published: February 2023

In order to solve the problem of insufficient range caused by the excessive weight of the pure electric bus, a multi-objective genetic algorithm (GA) and radial basis function (RBF) model are combined in this paper to realize the lightweighting of steel and aluminum hybrid body of the pure electric bus. First, the upper and lower frames of the pure electric bus body are initially designed with aluminum alloy and steel materials respectively to meet the lightweight requirements. Second, a finite element (FE) model of the bus body is established, and the validity of the model is validated through physical tests. Then, the sensitivity analysis is performed to identify the relative importance of individual design parameters over the entire domain. The Hamosilei sampling method is selected for the design of the experiment (DOE) because users can specify the number of experiments and ensure that the set of random numbers is a good representative of real variability, and the RBF model is adopted to approximate the responses of objectives and constraints. Finally, the multi-objective optimization (MOO) method based on GA with RBF model is used to solve the optimization problem of the lightweight steel-aluminum hybrid bus body. The results show that compared with the traditional fully steel body, the use of the aluminum alloy lower-frame structure can reduce body mass by 38.4%, and the proposed optimization method can further reduce the mass of the steel-aluminum body to 4.28% without affecting the structural stiffness and strength performance of the body.
Uncovering the behavioral determinants behind private car purchase intention during the new normal of COVID-19: An empirical investigation in China
Authors: Mao Yueqi , Mei Qiang , Jing Peng , Wang Xingyue , Xue Ying , Zha Ye
Published: February 2023

Based on the Protection Motivation Theory (PMT), the Psychological Reactance Theory (PRT), and the Theory of Planned Behavior (TPB), we revealed the psychological impact factors of individuals' private car purchase intentions during the new normal of COVID-19. Structural equation modeling (SEM) and Bayesian network (BN) were used to analyzed the car purchase decision-making mechanism. A questionnaire survey was conducted to collect empirical data from April 20th to May 26th of 2020 in China. We investigated 645 participants and analyzed the data. The SEM results showed that conditional value, pro-car-purchasing attitude, and perceived behavioral control, health value, and cost factors have significant direct effects on car purchase intention. According to BN's prediction of purchase intention, the probability of high purchase intention grew by 47.6%, 97.3% and 163.0%, respectively, with perceived behavioral control, pro-car-purchasing attitude, and conditional value shifting from "low" to "medium" and "high". This study provided a new perspective for researchers to explore the purchase intention of cars during the epidemic. Meanwhile, we could provide a reference for the government and enterprises to develop measures related to the automobile market."
An Interactive Application for Learning and Analyzing Different Graph Vertex Cover Algorithms
Authors: Kralev Velin , Kraleva Radoslava , Ankov Viktor
Published: February 2023

This paper deals with an analysis of three algorithms for the graph vertex cover problem. Certain methods for solving this problem are analyzed. In addition, different studies on the problem and some approaches to its solution are discussed as well. An exact algorithm (based on the backtracking approach) is presented. Calculating the average time for execution of this algorithm is consistent with the multitasking way of work of the operating system. For this purpose, four different starts of the algorithm are made and then the average time of all of them is calculated. The exact algorithm found the optimal solutions for all analyzed graphs. Besides this algorithm, two other heuristic algorithms for solving the problem are discussed. For this study, an interactive application is developed to visualize the performance of the three algorithms and display the obtained results. The results show that for small graphs with no more than 25 vertices the exact algorithm can be used to solve optimally the graph vertex cover problem. For the largest graphs, none of the two heuristic algorithms found the optimal solutions, but these algorithms generated solutions that are very close to the optimal ones. In summary, when the size of the graph increases linearly, the execution time of the heuristic algorithms increases linearly, while the execution time of the exact algorithm increases exponentially.
Interaction Multi-Agent Models' Automatic Alignment with MDA Higher Abstraction Level
Authors: Kharmoum Nassim , Retal Sara , El Bouchti Karim , Rhalem Wajih , Ziti Soumia
Published: February 2023

With the massive growth of the software sector as well as the erratic needs of end users, agent-based information systems and Model Driven Architecture (MDA) approach are among the liveliest and significant fields of experimentation and improvement to emerge in the recent decade. In this vein, we suggest in this research an innovative method that automates the construction and the generation processes of the interaction multi-agent models from the business requirements engineering models at the MDA highest abstraction levels. So, our defiance is to align the Agent Modeling Language (AML) Communicative Interaction diagram with the E3value model dealing with the MDA approach. The ATLAS-Transformation Language (ATL) is applied to automate the model alignment process. The goal is to reduce project effort, time, and development costs as all alignment process is automatically done, boosting the chances of being more competitive in the software business.
The Mediating Role of Entrepreneurial Orientation Between Relational Capital and Firm Performance
Authors: Jalali Alireza
Published: February 2023

Performance is the entire indicator of the ability of an organization to satisfy its stakeholders that can be measured in subjective way (Primary data) for SMEs. This study explores the mediating effect of entrepreneurial orientation (EO), looking at the relationship between relational capital and performance. A questionnaire was administered to 150 manufacturing small and medium enterprises (SMEs) in Iran. A model relating relational capital to performance through EO is tested using Smart PLS with two stage analysis, and the results turned out positive. Additionally, results indicate positive relationship between relational capital and EO, as well as EO to performance. The main contribution of this study resides in addressing the signification of EO as key mechanism to transform the advantages of relational capital to improve firm performance.
Tablet in the Consultation Room and Physician Satisfaction
Authors: Kumi Richard , Reychav Iris , Azuri Joseph , Sabherwal Rajiv
Published: February 2023

The purpose of the study is to investigate patient-physician interactions during a clinical encounter to ascertain the impact of tablet computing on physician satisfaction during a clinical encounter. This study was conducted at a primary care clinic, and the physicians who participated could use a tablet during their clinical encounters. The authors compared satisfaction between physicians who used the tablet during a clinical encounter and those who did not using data from 122 clinical encounters involving 82 patients. The results indicate that physicians who used the tablet during clinical encounters are more satisfied than those who did not. Additionally, there was a meaning difference in satisfaction between physicians who used the tablet to educate patients and share information than those who did not. HITs have potential benefits, but they also come with risks. To effectively manage the risks and benefits of HITs, healthcare providers should be deliberate and strategic in the implementation of HITs.
Organizational Influencers in Open-Source Software Projects
Authors: Schreiber Roland Robert
Published: February 2023

Traditional software development is shifting toward the open-source development model, particularly in the current environment of competitive challenges to develop software openly. The author employs a case study approach to investigate how organizations and their affiliated developers collaborate in the open-source software (OSS) ecosystem TensorFlow (TF). The analysis of the artificial intelligence OSS library TF combines social network analysis (SNA) and an examination of archival data by mining software repositories. The study looks at the structure and evolution of code-collaboration among developers and with the ecosystem's organizational networks over the TF lifespan. These involved organizations play a particularly critical role in development. The research also looks at productivity, homophily, development, and diversity among developers. The results deepen the understanding of OSS communities' collaborative developer and organization patterns. Furthermore, the study emphasizes the importance and evolution of social networks, diversity, and productivity in ecosystems.
OKR Methodology
Authors: Fernandes Bruno Cortines Linares , Gomes Jorge Vareda
Published: February 2023

In a changing world, dominated by fierce competition, it is imperative that companies have the necessary agility to adapt to the market constraints where they operate, investing in frameworks that promote the achievement of planned results. There are many tools that can help managers in setting goals; however, one became very well-known because it helped large companies like Google to achieve success: OKR – objectives and key results. When compared to others, OKR is still little publicized and used, leaving open some questions that the authors intend to answer in this work. A case study was carried out in a Brazilian company using a qualitative methodology and interviews and document analysis that only defines goals.
Analysis of Standardization Activities for City Resilience From Research Projects
Authors: Lindner Rene , Jaca Carmen , Hernantes Josune
Published: February 2023

Building resilience in cities requires, among other things, translating relevant research findings into practice at the city level. In this regard, standardization is an effective means of supporting the dissemination of research findings on particularly complex topics such as city resilience. To evaluate the scientific landscape on standardization activities for city resilience from research projects, a literature review was carried out using the Web of Science database. Only 6 of the 22 articles identified actually relate to city resilience and standardization, and a further 23 articles were found on so-called Workshop Agreements to provide evidence of the use of standardization activities in research projects in general. They were mainly published in the last five years and dealt little with standardization. The results confirm the lack of relevant scientific publications, and therefore, research should focus on standardization activities in research projects in general and on city resilience in particular.
Analysis of Smart Meter Data With Machine Learning for Implications Targeted Towards Residents
Authors: Emrouznejad Ali , Panchmatia Vishal , Gholami Roya , Rigsbee Carolee , Kartal Hasan B.
Published: February 2023

Previous studies examining the electricity consumption behavior using traditional research methods, before the smart-meter era, mostly worked on fewer variables, and the practical implications of the findings were predominantly tailored towards suppliers and businesses rather than residents. This study first provides an overview of prior research findings on electric energy use patterns and their predictors in the pre and post smart-meter era, honing in on machine learning techniques for the latter. It then addresses identified gaps in the literature by: 1) analyzing a highly detailed dataset containing a variety of variables on the physical, demographic, and socioeconomic characteristics of households using unsupervised machine learning algorithms, including feature selection and cluster analysis; and 2) examining the environmental attitude of high consumption and low consumption clusters to generate practical implications for residents.
Medically unexplained vision loss
Authors: Burton Ben
Published: February 2023

No abstract available
Differentiating pellucid marginal degeneration from keratoconus with epithelial mapping
Authors: Sujeevan S. , De Silva A. H. N. , Vishnupriya R. , Edirisooriya S. M. , Wariyapola D.
Published: February 2023

Introduction: Keratoconus and pellucid marginal degeneration are corneal ectatic disorders which cause thinning of cornea. They can be differentiated by epithelial mapping as keratoconus shows a typical appearance. Objective: To differentiate pellucid marginal degeneration from keratoconus with epithelial mapping. Methodology: It is a case series observational study of four young adults carried out over period of one month from September 2021 to October 2021. Conclusion: Even though in some cases of keratoconus and pellucid marginal degeneration show similar topography pattern, keratoconus shows typical "doughnut" appearance in epithelial mapping and PMD shows inferior thinning of epithelium in epithelial mapping.
COVID-19 and ocular manifestations – benign to fatal
Authors: Medagoda K. , Salvin K. A.
Published: February 2023

No abstract available
Quaternary geology of the southern Core Zone area, Quebec and Newfoundland and Labrador
Authors: Rice J , Paulen R C , Ross M , McClenaghan M B , Campbell H E
Published: February 2023

The complex glacial geomorphology of east-central Quebec and western Labrador has resulted in conflicting ice-sheet reconstructions, leaving many questions regarding the behaviour of large ice sheets within their inner regions. Specifically, the ice-flow
chronology and subglacial conditions remainpoorly constrained. To address this, surficial geology investigations were conducted across the border of Quebec and Labrador. A complex glacial history consisting of five ice-flow phases influenced by regional ice-stream dynamics was identified, including
a near-complete ice-flow reversal. During each ice-flow phase, the subglacial thermal conditions fluctuated both spatially and temporally, resulting in palimpsest glacial dispersal patterns. Deglacial ages from samples collected as part of this research confirm deglaciation occurred relatively
rapidly around 8 ka. The results of this work lead to a better understanding of the glacial history of an inner region of the Laurentide Ice Sheet and have important implications for mineral exploration in the southern Core Zone area.
Abstract 117
Authors: Sriramaneni Nikitha , Ganavi Y.P , Kalra Pramila
Published: February 2023

Background: Hemiagenesis of thyroid gland is a rare congenital disorder. It can be associated with a variety of thyroid disorders.

Case Report: A 35 year oldfemale presented withsignificant unintentional weight loss, difficulty in swallowing and tremors of hands from 2 months duration. Herserum TT3, TT4 levels were elevated andserum TSH was suppressed. Tc99 scan of thyroid gland showed an increased trapping function in the isthmus and left lobe of thyroid likely toxic adenoma. She was started on carbimazole.

On follow up, a goiter was palpable on left side and right lobe of thyroid was not palpable. An USGthyroid gland was done in which right lobe of the thyroid gland was not visualized. There were 2 isoechoic nodules in the left lobe of thyroid 5 x 3 mm and 5 x 4 mm with a hypoechoic rim (TIRADS 2 score). As there was no evidence of tracer uptake in the region of right lobe of thyroid gland with increased homogenous tracer uptake (uptake at 20 mins- 4.7%) in the isthmus and left lobe of thyroid gland, a possibility of Graves’ disease was considered. TSHR Antibody testing was planned on follow up.

Discussion: Thyroid hemiagenesis is a rare congenital disorder in which one lobe of the thyroid gland fails to develop while the other lobe develops normally with or without an isthmus. The prevalence of thyroid hemiagenesis is reported to vary from 0.05% to 0.5%. Most of them are euthyroid but may be associated with hyper- or hypothyroidism. Left lobe hemiagenesis is common with left to right hemiagenesis ratio of 4:1. Various extrathyroidal abnormalities can coexist with thyroid hemiagenesis like parathyroid adenoma or hyperplasia, congenital disorders etc.

Conclusions: Graves’ disease with thyroid hemiagenesis must be considered in cases of unilateral homogenous increased tracer uptake on thyroid scintiscan. Thyroid ultrasonography is a non-invasive, inexpensive, and valuable modality for a quick diagnosis of thyroid hemiagenesis and differential diagnosis from other causes.
Abstract 118
Authors: Nikith Siddu , Shanthaiah Dhananjaya Melkunte , Sagar Reddy S L , Sarathi Vijaya
Published: February 2023

Introduction: Markedly elevated thyroid stimulating hormone (TSH) in patient withsellar-suprasellar mass generally indicates pituitary hyperplasia but very rarely primary untreated hypothyroidism and pituitary adenoma may co-exist. It is crucial to differentiate these two conditions, because of significant difference in treatment modalities. Here, we report a caseseries of pituitary adenoma with markedly elevated TSH.

Methods: Case records of sella-suprasellar masses with elevated TSH (> 20 mIU/ml), registered between January 2021 and September 2022 were reviewed and those with the diagnosis of pituitary adenoma are included. The diagnosis of pituitary adenoma was based either on histopathology or radiological characteristics compatible with pituitary adenoma with no lesion size reduction with levothyroxine replacement.

Results: A total of five patients (4 males) presented at a median age of 37 (range: 23-62) years with headache (n = 4) and visual disturbances (n = 3) Median TSH level was 115.5 (range: 84-430) mIU/ml. Two patients had coexisting central hypocortisolism and hypogonadism. Magnetic resonance imaging revealed macroadenomas with heterogeneous enhancement in all patients. Optic chiasm compression and dome shaped elevation were seen in three patients each. None (n = 4) of the patients showed reduction in lesion size after 3 months of levothyroxine replacement. Three patients underwent surgery and histological confirmation as pituitary adenoma.

Conclusion: We report a unique series of pituitary macroadenomas with markedly elevated TSH due to coexisting primary hypothyroidism. This series cautions that all sellar masses with markedly elevated TSH are not pituitary hyperplasia. Baseline imaging characteristics and assessment of lesion size reduction after levothyroxine replacement help to differentiate pituitary adenoma from pituitary hyperplasia.
Abstract 120
Authors: Talwar Gourav
Published: February 2023

Background: Biotin is a readily available supplement that is a part of the B-complex vitamins and is sold overthecounter alone or in combination with other vitamins and minerals to improve skin, nail and hair health. Exogenous biotin intake is becoming a common cause of apparent abnormal thyroid function tests in medical practice.

Case Report: A 50-year-old lady came to the medical OPD with reports of a “whole body test profile” which showed low TSH andhighT3 and T4. She had no symptoms suggestive thyrotoxicosis or hypothyroidism apart from hair thinning. There was no past medical or family history of thyroid disorder. Examination showed a clinically euthyroid state with no goitre. Repeat testing showed high fT3, fT4, and low TSH and -ve TSH receptor antibody. On enquiring about any medicinal history, she admitted taking a supplement for the last 3 months for her hair fall, which had 500 mcg biotin in it. TFTs were repeated after stopping the supplement for 7 days which came out to be normal.

Discussion: Biotin is an essential co-factor for five carboxylases involved in fatty acid synthesis and energy production. Increased Biotin use in the recent times, as anutritional supplement has led to an increase in the interference of lab tests. While excessive intake of Biotin is not toxic as such, but problems may result from erroneous diagnoses or missed diagnoses. The FDA has issued a warning about falsely normal troponin level in MI, due to Biotin interference. There is no in vivo relationship between biotin and thyroid hormones, but high dose biotin affects thyroid function test in vitro when assessed with immunoassays using streptavidin biotin immobilizing system. A common misdiagnosis due to apparently low TSH with or without raised T4 isthyrotoxicosis or thyroxine over-replacement. American Thyroid Association advises stopping biotin for two days before thyroid function test. This can avoid unnecessary investigations, patient anxiety, and healthcare costs. Patients can continue to take biotin except stopping it temporarily before thyroid blood tests.

Conclusion: Biotin interference mimics the laboratory changes in thyrotoxicosis. Prompt recognition of biotin interference requires a high index of suspicion. History of medicine intake including health supplements having biotin is important in patients showing mismatch of lab and clinical findings of thyrotoxicosis as it minimizes unnecessary expensive additional work up and treatment.
Abstract 125
Authors: Deshpande Aditya , Dutta Susmita , Singha Arijit , Mukhopadhyay Pradip , Ghosh Sujoy
Published: February 2023

Background: Congenital hypothyroidism (CH) is the most common inborn endocrine disorder and a common cause of preventable mental retardation. Primary CH may be associated with other systemic abnormalities (Syndromic CH). It may be due to specific genetic mutations leading to thyroid dysgenesis (TD) or dyshormonogenesis (TDH).

Objectives: 1. To study the phenotypic profile of patients with CH harboring different gene mutations. 2. To evaluate the spectrum of mutations in candidate genes (PAX8, NKX2-1/TTF1, NKX2-5, FOXE1/TTF2, TSH-R, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD and TG) in cases with congenital hypothyroidism.

Methods: In this cross-sectional study, after collection of preliminary data and baseline characteristics, individuals with CH were assessed for features of Syndromic CH. In the absence of syndromic features, they were broadly classified into Dyshormonogenesis and Dysgenesis (ectopic, agenesis, hypoplastic) based on unstimulated serum thyroglobulin and ultrasound of neck. They were subjected to genetic testing (PCR followed by Sanger sequencing) based on etiological classification.

Results: Of the 40 individuals enrolled in the study, all but one individual had institutional delivery. However, only 15% had been subjected to neonatal TSH screening. The mean age at diagnosis was 6.1 + 10.53 months. Majority of the patients (67.5%) did not have clinical features of CH at diagnosis. Constipation was the most reported clinical feature in symptomatic CH. Delayed developmental milestones were noted in many. 1 had features of syndromic CH- Bamforth Lazarus syndrome, 17 were classified as thyroid dysgenesis and 22 as thyroid dyshormonogenesis. Mutations were detected in 37.5% of individuals. Mutations were detected in 9/22 (40.9%) individuals with TDH. 6 (30%) patients had multiple mutations. DUOXA2 (40%) was the most common mutation, followed by DEHAL1 (35%). Mutations were detected in 6/17 (35.29%) individuals with TD. 3 (20%) had multiple mutations. TTF-2 (53.3%) was the commonest mutation followed by PAX8 (26.6%).

Conclusion: Syndromic CH was seen in only 1 individual. TDH was the most common etiology of CH (55%). Unstimulated serum thyroglobulin and ultrasound neck were used for etiological classification and subsequent genetic testing based on this classification. Using this approach, genetic mutations were detected in 38.46% (TDH – 40.9%, TD – 35.29%). DUOXA2 and TTF-2 were the most common mutations seen in individuals TDH and TD respectively.
Abstract 152
Authors: Suran Apoorva , Maldar Aasim , Shah N. F. , Chauhan P. H.
Published: February 2023

Background: Anti-Mullerian hormone (AMH) is secreted by small antral follicles and is elevated in PCOS. Unlike serum total testosterone, its value remains constant irrespective of the phase of menstrual cycle. Serum AMH could prove to be a promising marker of disease activity and response to therapy. Combined estrogen-progestin (CEP) pills are considered treatment of choice in PCOS, but their effect on serum AMH has not been widely studied.

Objective: To study the effect of six months of CEP pills on serum AMH and testosterone in PCOS patients.

Methods: 55 consecutive females, above 18 years and diagnosed with PCOSby Rotterdam Criteria, who attended our outpatient clinic from July 2020 to April 2021, were enrolled. Hirsutism was assessed by modified Ferriman-Gallwey Scoring (mFGS). Serum AMH and total testosterone were measured at baseline, and all the patients were initiated on combination of ethinyl estradiol (35 mcg) with cyproterone acetate (2 mg), to be taken orally for 21 days every month for a period of 6 months. Serum AMH and total testosterone were reassessed again after 6 months of CEP therapy. Out of total 55 patients, 14 were lost to follow up due to Covid-19 pandemic. A total of 24 patients completed 6 months of CEP therapy, while remaining discontinued the treatment after a mean period of 2 months because of perceived adverse effects.

Results: Mean age of study population was 22.8 ± 4.4 years. At baseline, hyperandrogenic features like acne, hirsutism and hair fall were present in 41 (74.5%), 35 (63.6%) and 42 (76.4%) females, respectively. Mean mFGS was 5.6 ± 2.8. Oligomenorrhoea was reported by38 (69.1%) females. Mean AMH levels and testosterone were 12.1 ± 7.1 ng/ml and 46.6 ± 20.1 ng/dl, respectively. There were 17 (30.9%) patients who had testosterone ³60 ng/dl, while 42 females (76.3%) had high AMH levels (³6.8 ng/ml). Baseline AMH positively correlated with BMI and serum LH level.

Post-treatment, there was significant decrease inacne, hirsutism and hair fall (P < 0.001 for all). Mean mFGS (5.6 ± 2.8 vs 4.2 ± 2, P < 0.001) and mean serum AMH levels (12.1 ± 7.1 ng/ml vs 10.4 ± 7 ng/ml, P = 0.002) demonstrated a significant improvement. Serum testosterone levels decreased post therapy (46.6 ± 20.1 vs 42.3 ± 17.4 ng/dl, P = 0.08), but did not reach statistical significance (table 1). Testosterone and AMH levels did not show any correlation (R = 0.054, P = 0.7).

Conclusions: AMH levels show a significant decline after 6 months of treatment, corresponding to improvement in hyperandrogenic symptoms and mFGS. AMH can prove to be a promising marker of disease activity in PCOS. The major limitation of the study was its small sample size, and more robust studies are needed.
Abstract 173
Authors: Bhargava Abhishek , Lal Kanhaiya , Sharma Shrikant , Bhargava Riya
Published: February 2023

Introduction: Stiff Person Syndrome (SPS) is a rare disease characterized by progressive muscle rigidity and spasms, which can lead to functional disability. Circulating anti-glutamic acid decarboxylase (anti-GAD) antibodies are thought to create a γ- aminobutyric acid (GABA)-scarce environment within the body. These autoantibodies, although orders of magnitude greater in SPS, are also associated with type 1 diabetes mellitus (T1DM).

Objective: Presenting a case of SPS (Stiff Person Syndrome) in a case of a 40-year-old man with Latent Autoimmune Diabetes in Adults (LADA).

Case Report: A 40-year-old man with Diabetes presented to us with chief complaints of progressive weakness and abnormal gait with inability to maintain imbalance since 3 months. He had a wide based gait, Power in all four limbs was 4+/5. Tone was increased symmetrically with rigidity present. Reflexes were 2+ and Bilateral plantar were flexor. No sensory involvement was present. Cerebellar signs were positive bilaterally. Higher Mental Functions were intact. No spinal deformity or history of trauma was present. He also had history of Diabetes for 1 year for which he was taking insulin injections. All causes of chronic symmetrical progressive cerebellar involvement were ruled out and a probable diagnosis of SPS was made. MRI Brain was suggestive of cerebellar atrophy. MRI Spine was normal. Patient was also evaluated for Diabetes mellitus and antibodies causing LADA were evaluated. Patient’s blood reports were positive for Anti-GAD antibodies which are also the causative factor behind SPS. Other autoimmune conditions were ruled out. Other diagnostic features as mentioned in Dallas criteria were also present. Hence the diagnosis of SPS was confirmed. The patient has been currently using clonazepam, with overall improvement in all symptoms.

Discussion: Stiff person syndrome (SPS) is a rare immune-mediated disorder characterized by rigidity and episodic spasms that can be progressive and fatal. Circulating anti-glutamic acid decarboxylase (anti-GAD) antibodies are thought to create a γ- aminobutyric acid (GABA)-scarce environment within the body. These autoantibodies, although orders of magnitude greater in SPS, are also associated with type 1 diabetes mellitus (T1DM).
Abstract 177
Authors: Togarla Srujana , Sahay Rakesh , Neelaveni
Published: February 2023

Background: POR-deficiency is a new variant of congenital adrenal hyperplasia can manifest with clinical features similar to those in 21α-OH deficiency and aromatase deficiency It is an autosomal recessive condition caused by mutation in the POR (Cyp 450 oxidoreductase) gene which encodes an electron donor for all microsomal Cyp 450 enzymes and several non-Cyp 450 microsomal enzymes. It has an extremely variable phenotype ranging from adrenal insufficiency, skeletal malformations similar to Antley–Bixler syndrome to genital ambiguity present in both sexes.

Case Details: A 15-year-old girl was brought by her parents to our department of Endocrinology with the complaints of failure to attain menarche and poor pubertal progression .3 yrs back, she developed recurrent abdominal pain, admitted with acute abdomen with torsion of right ovarian cyst requiring oophorectomy. A year later symptoms recurred on left side. She was found to have large hemorrhagic ovarian cyst, underwent cystectomy. Few months later, the ovarian cysts recurred. She also had poor progression of pubertal changes and referred to our department. She was tall, had arachnodactyly with short fourth metatarsals, SMR- A1P2B2, normal external genitalia. USG abdomen showed hypoplastic uterus with large ovarian cysts Biochemical investigations – Elevated LH, FSH, low estrogen, low cortisol, elevated 17-OH progesterone, inadequate response post stimulation suggestive of POR deficiency, which was confirmed by genetic testing.

Conclusion: Clinical spectrum of PORD is variable. Delayed or disordered puberty may be the first presentation in PORD patients. As in our patient, POR mutations may underlie in patients with clinical diagnosis of aromatase deficiency, in whom aromatase gene mutations have not been identified. PORD should be considered as one of the differential diagnoses in cases of primary amenorrhea with or without genital ambiguity and multicyclic ovaries.
Abstract 18
Authors: Valliyot Ashwin , Jabbar P. K.
Published: February 2023

Background: Graves orbitopathy also referred to as thyroid-associated orbitopathy (TAO) is the extrathyroidal manifestation of Graves’ disease and the most common cause of exophthalmos. It is an immune disorder causing inflammation and expansion of orbital fat and muscle. It is seen in 25–50% of patients with Graves’ disease and hyperthyroidism. Though common in our population, only limited data were available on the demographic profile and clinical features of thyroid orbitopathy. This study is planned to fill the knowledge gap in this area from our region

Aim: To describe the demographic, clinical, and therapeutic outcome of Thyroid associated ophthalmopathy in patients with proven thyroid-associated orbitopathy

Methods: We carried out a retrospective and descriptive analysis of 30 patients with TAO. This study was conducted in the Endocrinology department of GMC Thiruvananthapuram, between January 2020 and October 2022. A total of 30 patients enrolled during the period who met the inclusion criteria were studied. A well-structured proforma was used to collect the data. All patients were subjected to detailed clinical evaluation and laboratory investigations.

Results: 30 patients were included in the study. The mean age of patients was 48.7 ± 11.37 years. Female to male ratio was 1.6. 93.4% of the study population were non-smokers. 100% of patients had hyperthyroidism at presentation Orbitopathy was bilateral in all the patients. The most common ocular symptoms were prominent eyes (100% of patients), Proptosis, and upper eyelid retraction present in 100% of patients. Dysthyroid optic neuropathy and corneal ulceration were reported in one case. 16 of patients had Clinical Activity Score (CAS) ³3/7. Sight-threatening orbitopathy was present in 3 patients.16 patients with CAS ³ 3/7 were treated with Methylprednisolone pulse therapy (Total 12 doses- 4.5 g). 13 patients showed a significant improvement in signs and symptoms of orbital inflammation. 2 patients with refractory orbitopathy were given Rituximab infusion. Improvement in CAS scores was seen in both patients. One patient underwent Orbital radiation and decompression surgery

Conclusion: TAO is a complex disease, which is associated with impaired quality of life and can potentially result in sight-threatening complications. This study conducted in GMC Thiruvanathapuram, a major endocrinology center in Kerala revealed that proptosis and upper eyelid retraction were the most common clinical feature associated with TAO. TAO can lead to significant visual impairment, as noticed among three patients in our study. 81.2% of patients with CAS) ³3/7 responded well to Methylprednisolone pulse therapy. Refractory Orbitopathy patients showed clinical improvement with the initiation of Rituximab therapy. Appropriate early diagnosis, convenient therapy, and regular follow-up are necessary to improve results and avoid the aesthetic and functional complications of TAO.
Abstract 183
Authors: Sruthi K. , Goroshi Manjunath
Published: February 2023

Objective: To determine the efficacy and safety of percutaneous ethanol injection (PEI) for the treatment of cystic and predominantly cystic thyroid nodules.

Materials and Methods: Retrospective analysis was performed of 35 patients with cystic and predominantly cystic (>50%) thyroid nodules who were treated using ultrasound guided percutaneous ethanol injection between January 2020 to April 2022. All patients underwent fine needle aspiration (FNA) of their cyst demonstrating benign pathology (Bethesda II). The main outcomes were efficacy, defined as reduction in nodule volume of 50% or more, and safety, defined as no or minor adverse events. Patients were assessed at post-procedure months 1, 3, 6, and 12.

Results: 35 patients underwent ultrasound guided percutaneous ethanol injection (PEI) for the treatment of cystic and predominantly cystic thyroid nodules. 32 patients were female and 3 patients were male. Mean age was 35.6 years (range 19 to 56 years). All patients were euthyroid. The median largest diameter of the thyroid nodule was 4.5 cm (range, 3.2-8.0 cm); the median volume pre-PEI was 16.6 mL (range, 2.6-108.1 mL). All patients had a 50% or greater reduction in nodule volume. The median final volume on last follow-up ultrasound was 3.98 mL (range, 0.32-40 mL), and median volume reduction was 76% (range,0%-97%). 3 patients had recurrence. There were no significant adverse effects and the procedure was well tolerated by all patients. Adverse effects occurred in 4 patients (20%) and were mild and temporary (pain and bleeding into the cyst). The pericapsular infiltration with xylocaine before the procedure could be the reason for less pain during and post procedure. The injected ethanol was not reaspirated and it could be the reason for greater volume reduction in this study.

Conclusion: Percutaneous ethanol injection (PEI) appears to be a safe and effective alternative to surgical resection for patients with benign cystic and predominantly cystic thyroid nodules.
Abstract 195
Authors: Paharia Nidhi
Published: February 2023

Purpose: To evaluate tear function test (OSDI questionnaire, Schirmer’s Test and TBUT) and corneal surface disorder (Impression cytology) in recently diagnosed hypothyroid patients and to compare results with healthy subjects.

Setting/Venue: Mahatma Gandhi Medical College, Jaipur, Rajasthan, India.

Methods: Cross sectional analytical study. 30 recently diagnosed (within 3 months of diagnosis) patients of hypothyroidism and 30 healthy age matched controls were included. All patients and controls underwent assessment of proptosis, Palpebral fissure-height (PFH), tear function test (OSDI questionnaire, Schirmer’s test and Tear Break-up-time (TBUT) and Impression Cytology for ocular surface assessment. These parameters were compared between cases and controls. Standard statistical analysis was used.

Results: Mean Proptosis and PFH showed no significant difference among groups (P value =.071). Mean value of OSDI was 41.15+16.03 & 29.33+6.84 in hypothyroid & Controls respectively, the difference being statistically significant (P=.001). Mean TBUT was 6.38+2.46 sec and 11.15+2.39 sec in hypothyroidism & controls respectively (P=0.001). Mean value of Schirmer tear test was 13.30+4.44mm, and 17.55+7.35mm in Hypothyroidism and controls respectively (P=0.001). 70% of patients in hypothyroidism group had grade 2-3 squamous metaplasia as compared to 24.4% in controls, signifying ocular surface damage (P<0.05).

Conclusions: Mean PFH and proptosis did not differ between two groups. However, increased OSDI score, decreased Schirmer’s test value, decreased TBUT & grade 2-3 squamous metaplasia in patients of thyroid dysfunction suggests presence of dry eyes. Despite no clinically visible signs of thyroid ophthalmopathy, there is ocular surface damage right from the early stages of thyroid dysfunction. This is attributable to evaporative mechanism as well as ocular surface inflammation & hyperosmolarity of tear film.
Abstract 40
Authors: Lyngdoh Ininaki N. , Meena K. R.
Published: February 2023

Introdution: Diabetic Ketoacidosis is a common cause of mortality in patients of type1 DM. The study was done to establish a relation between the clinico-epidemiological profile of a patient diagnosed with diabetic ketoacidosis and adverse clinical outcome.

Aims and Background: To study the clinical-epidemiological profile of Children below 12 years of age with Diabetic Ketoacidosis presenting to the Department of Paediatrics. The primary objective is to evaluate the clinico-epidemiological profile of children below 12 years of age with Diabetic Ketoacidosis and the secondary objective is to evaluate the factors associated with adverse clinical outcome in terms of development of cerebral oedema, Mechanical Ventilation requirement and prolonged Paediatric Intensive Care Unit (PICU) stay.

Methods: This was a prospective observational cohort study where patients where 60 patients enrolled into the study. Based on the clinical outcome, the patients were divided into the respective cohorts and statistical analysis was done based on both the baseline epidemiological and clinical profile of the patients.

Results: The patients with a median age 10.5 years has a statistical association with the occurrence of complications (p = 0.075), the chances of death (p = 0.075), delayed resolution of DKA (p value = 0.141), delayed PICU stay of more than 3 days (p value = 0.098). Based on the clinical profile at admission and its association with complications, outcome as death, delayed DKA resolution and prolonged PICU stay, the following data was seen: pH with the adverse clinical outcome had p < 0.0001, HCO3 with the adverse outcome had p = 0.021, base excess had p = 0.0004. The serum sodium, potassium and serum creatinine also had significant association with the adverse clinical outcome.

Discussion and Conclusions: Hence, baseline characteristics like age and clinical profile of the patients taken at the time of admission can be used as predictors of adverse clinical outcomes. With regards to this conclusion, we can tailor the treatment protocols accordingly and reduce the adverse outcomes.
Abstract 41
Authors: Haldar Akash Kumar , Talukdar Debdatta , Roy Ajitesh , Dastidar Rinini , Sikder* Kunal
Published: February 2023

Background and Objective: Autoimmune Thyroid Diseases (AITDs), that include Graves’ disease (GD) and Hashimoto thyroiditis (HT) are the most prevalent organ specific autoimmune ailments with a 7.1% of the total Indian population being affected. Our initial data showed an exaggerated inflammation in the circulating leukocytes and a decline in endogenous vitamin D levels and the vitamin D receptor expression in GD patients. The aim of the study is to find out the association of vitamin D receptor (VDR) gene polymorphisms with susceptibility to GD, and elucidate cellular stress pathways in the circulating leukocytes underlying the pathogenesis of GD.

Methodology: 50 GD patients and 40 control subjects were recruited so far in the present study from Ramakrishna Mission Seva Pratishthan hospital OPD, Kolkata, West Bengal following necessary protocols. Various hematological and genetic parameters were studied from blood. Biochemical parameters and thyroid auto-abs were assessed with auto analyzer. Differential mRNA and protein expressions were determined by Real time PCR, and Western Blot respectively.

Results: As expected, an extensive female preponderance found in the AITD patients (1:3.16 ratio). 4.7-fold increase in TSH-R antibody found in GD patients (4.363 ± 0.97 IU/L). Anti-TPO ab and anti-Tg ab were increased by 70.40-fold and 16.41-fold respectively in GD patients compared to controls. Low level of serum vitamin D (16.719 ± 1.248 ng/ml) and down regulation of mRNA expression of VDR (1.8-fold) found in GD patients, indicating a possible link with immune dysregulation in GD. PCR-RFLP studies revealed that 75% of GD patients have Apa1 (rs7975232) VDR polymorphism while 33% have Bsm1 (rs1544410) polymorphism. 83.3% of GD patients are found to be HLA-DQB2 positive. Consequently, major TH1 cytokines, TNF-a and IL-2 levels in serum were markedly enhanced by 29.60 and 1.314 folds respectively over controls (246.016 ± 57.522; 45.343 ± 3.352). We also found a significant ER stress in the PBMCs. mRNA expressions of IRE1-a, PERK and ATF6 were upregulated like 2.6, 1.5, 2.0-fold respectively compared to controls (P < 0.05), indicating activation of all three branches of UPR during ER stress.

Conclusion: At this point of study, our data strongly suggest a marked shift in immune response with vitamin D deficiency GD patients, also vitamin D receptor gene expression was found to be down regulated. HLA-DQB2 expression was found to be strongly associated with GD. Also, the activation of ER stress pathways was observed in the GD patients.
Abstract 58
Authors: Ragate Divya
Published: February 2023

Background: Apoplexyasa presenting feature is seen in as high as 75% of pituitary adenomas.1The role of conservative management and trans-sphenoidalsurgery (TSS) for those with initial neuro-ophthalmologicsignsisdebatable.2A recent meta-analysis concluded that visual and endocrine recovery do not differ between these two modalities.2

Methodology:

Results: 31 patients (23 males and 8 females) with a median (range) age of 42 (23-71) years were included. Acute (£1 month) and subacute (>1 month) presentation were seen in 27 and 4 patients, respectively. 18 patients underwent TSS (Group A) within 7 days ofpresentation and 13 patients were managed conservatively (Group B). Visual, neuro-ophthalmologic, and hormonal outcomes ofgroup A and B were not different. Complete and partial hormone recovery was seen 2/12 and 1/12 patients in Group A; 2/11 and 1/11 patients in Group B, respectively. None of the patients who were managed conservatively required TSS on follow-up. Cranial nerve palsies improved in 100% (5/5) as opposed 50% (2/4) of patients with size £3 and >3 cm, respectively who underwent TSS. No other baseline demographic (age/sex/duration) or hormonal parameters determined neuro-visual and endocrine outcomes.

Discussion: Similar neuro-visual and hormonal outcomes between conservative and surgical modalities of treatment is reported in meta-analysis by Goshtasbi et al.2 This is due to a selection bias wherein more severe patientswere subjected to surgery but observation as seen by the significantly larger tumor size and higher proportion of cranial nerve palsies in the former. The better neuro-visual recovery and sub-optimal hormonal recovery with conservative approach despite a milder disease to begin with, were similar to those observed by Singh et al. and Leyer et al.3,4 The pathophysiological explanation could be due to permanent damage anterior pituitary trophic cells. Nonetheless, lack of prospective RCT’s makes decision making process subjective/at discretion of multidisciplinary team. Hence, milder cases or those with neuro-ophthalmologic signs and a tumor size £3 cm could be managed conservatively reserving surgery for larger (>3 cm) tumors; those with worsening neuro-ophthalmologic disease.

Limitations:
Abstract 64
Authors: Nutakki Krishna Veni , Deb Prasun , Nalla Smitha , Vulpala Alekya
Published: February 2023

Introduction - Paediatric obesity has increased substantially over the past four decades. The most common cause is exogenous obesity followed by endocrine and genetic aetiologies. Among genetic causes, mutations in MCR4, POMC and imprinted genes in 15q11, are common.

We present here a case of obesity, growth hormone deficiency and hypothyroidism in a patient with homozygous PRMT7 mutation, a rare mutation that has been reported in less than 15 cases, and is causative of SBIDDS (short stature and brachydactyly, intellectual developmental disability, and seizures) phenotype.

Case report: A 9 yearoldmale child, second bornof third degreeconsanguineous parents, presented to the Endocrine OPD with short stature. Birth weight was 2 kg. There was a history of delayed cry at birth, NICU stay and prolonged jaundice in the neonatal period. In the first month of life, a mid-sized PDA was detected and was conservatively managed. Spontaneous closure of PDA was noted at 3 years. There was history of developmental delay andmild intellectual deficit. Seizure disorder was diagnosed and he was on treatment. Excessive weight gain was observed at the age of 4 years. On examination, he was short with abdominal obesity, brachydactyly, simian crease and macroglossia. Height was below 3rd centile and weight at the 97th percentile. SMR was pre-pubertal:A1P2.

Investigations confirmed growth hormone deficiency and primary hypothyroidism for which he was commenced on growth hormone therapy and levothyroxine. ONDST was negative. Genetic evaluation for Prader Willi syndrome and Angelman syndrome was negative. Whole exome sequencing revealed homozygosity for PRMT7 mutation with both parents heterozygous for the same gene mutation. His twin sibling was also found to be homozygous for the mutation.

Discussion - PRMT7 is expressed ubiquitously in humans during development and into adulthood, and catalyzes the transfer of methyl groups playing a critical role in euchromatin maintenance, RNA splicing, cell growth and differentiation. PRMT7 also contributes to core skeletal integrity, through its regulation of the Wnt signaling pathway. Biallelicmutations in PRMT7 in humans are rare with only 15 reported cases and cause an autosomalRecessivecondition characterized by short stature and brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome.

We report here some of the additional clinical features associated with this genetic condition-obesity, growth hormone deficiency and hypothyroidism. Further studies are required to delineate the natural history and molecular basis of this disorder, which may place it as one of the genetic etiologies of obesity.