bluuebunny/crossref_metadata_2025 huggingface dataset:
Abstract 48: A typical neurofibromatosis type 1 presenting as overgrowth syndrome
Authors: Gagneja Sakshi
Published: August 2024

A 6 years old boy presented to the endocrinology department as unilateral left leg overgrowth since birth. Limb discrepancy had been negligible at birth but became evident as the child gained height and further he developed a limping gait by 2 years of age. On examination, he had multiple café au lait spots of > 5 mm over the body and hyperpigmentation on anterolateral aspect of left leg which turned out to be a venous malformation on color Doppler and MRI of the leg. There was no other neuro cutaneous marker and no family history of similar illness or any other neuro cutaneous lesions or any abdominal malignancy. A probable diagnosis of segmental overgrowth syndrome was made with associated café au laits. We wanted to rule out syndromic cause for the same, so patient was advised clinical whole exome sequencing. Genetic result revealed atypical NF1 with heterogenous 3’ splice site variation in intron 36 of the NF1 gene. We hereby report rare presentation of neurofibromatosis as segmental overgrowth syndrome.
Abstract 56: Clinical profile of adult onset hypopituitarism in patients presenting to a tertiary care center in South Tamil Nadu
Authors: Jog Komal , Vasanthiy N , Subbiah Sridhar
Published: August 2024

Background: The data regarding clinical profile of adult onset hypopituitarism in India is limited. Previous studies have shown that pituitary and sellar tumors are the most common cause of hypopituitarism.

Aims and Objectives: To study the clinical profile of patients with adult onset hypopituitarism presenting to the Endocrinology Department to our tertiary care centre.

Results: A total of seventeen patients were included in the analyses. The mean age of the patients was 39.55 +/-14 years. There were 8 (47%) males and 9 (53%) females included in the study. The most common presenting complaints were amenorrhea (52%), headache (35%), visual complaints (29%). 29%(n=5) patients were admitted with acute adrenal crises requiring intravenous steroids at diagnosis. 11%(n=2) of patients had pituitary apoplexy. 47%(n=8) patients had pituitary or sellar tumors, 35%(n=6) patients had postpartum pituitary necrosis, one patient each had history of snake bite and head trauma. 94 %( n=16) patients had secondary adrenal insufficiency, 88 %( n=15) patients had secondary hypothyroidism, 70 %( n=12) patients had hypogonadotrophic hypogonadism, and only 11% (n=2) had growth hormone deficiency. 88 %( n=15) patients had panhypopituitarism.

Conclusion: The most common causes of hypopituitarism in our study were pituitary and sellar tumors. 88% patients had panhypopituitarism, 35% patients had deficiency of two pituitary hormones.
Abstract 61: Prevalence and clinical profile of maturity onset diabetes of the young among people with diabetes attending a tertiary care institute in North India
Authors: Bhat Javaid Ahmad , Masoodi1 Shariq Rashid , Bhat Mohammad Hayat
Published: August 2024

Background: Maturity onset diabetes of young (MODY) is considered to be the most underdiagnosed condition and correct diagnosis has a definite bearing on the outcome and clinical course of the disease.

Aims and Objectives: To determine the prevalence and clinical profile of MODY among young diabetic patients attending Endocrinology department at SKIMS, India.

Methods: This was a cross-sectional study involving 1094 consenting patients with diabetes and age of onset of diabetes (DM) ≤30 years (<25 years in 858 patients). All patients were screened for MODY using clinical criteria and MODY probability calculator (available on diabetesgenes.org). Patients with high clinical probability of MODY and negative anti-GAD65 antibody but fasting serum C-peptide levels >0.6 ng/ml were subjected to the Ala98Val polymorphism (SNP) in HNF1α gene.

Results: The prevalence of MODY as per clinical criteria was 7.7%. The patients with MODY were younger (p<0.001), leaner (p<0.001), had younger age at onset of DM (p<0.001) and lower frequency of features of insulin resistance. Among 40patients who were subjected to SNP analysis in HNF1α gene (MODY3), the mutant genotype was seen in 20 (50%) patients.

Conclusion: We report a higher prevalence of MODY3 in our young diabetic patients. A high index of suspicion is required to diagnose MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life.
Abstract 76: Alteration in bone metabolism and bone mineral density with chronic anti-epileptic drug therapy in North Indian population
Authors: Ashraf Hamid , Zafar1 Lubna , Kumar1 Damera Achyut
Published: August 2024

Objective: Anti-epileptic drugs are the mainstay of treatment of epilepsy. Prolong use of anti-epileptic medicines can lead to reduction in bone mineral density (BMD), resulting in 2-6-fold increase in fracture risk. This study was carried out to assess the impact of AEDs on the markers of bone turnover and BMD in North Indian patients.

Methods: In this hospital based observational study sixty adult patients with epilepsy, on antiepileptic drugs were included. Serum calcium, phosphorus, alkaline phosphatase (ALP), albumin, 25 (OH) vitamin D and intact Parathyroid hormone (iPTH) and BMD (at lumbar spine with DEXA) were measured in all study subjects.

Results: The serum level of calcium, phosphorus and 25(OH) Vitamin D was significantly decreased and iPTH and ALP levels were increased in patients taking anti-epileptic drugs for > 5 years. There was a significant negative correlation between serum calcium, phosphorus and vitamin D levels and significant positive correlation with ALP and iPTH levels with duration anti-epileptic therapy. There was negative correlation between the T-score and anti-duration of anti-epileptic therapy.

Conclusions: Use of anti-epileptic (both old and new) medication in adults is associated with decline in BMD, calcium, vitamin D and phosphorus levels and elevation in iPTH and ALP levels.
Abstract 80: A case of familial growth hormone deficiency
Authors: Kulkarni Deepa , Bantwal Ganapathi , Ayyar Vageesh , George Belinda , Appaiah Sonali
Published: August 2024

Here by presenting, a case of familial short stature where in 2 siblings presented with failure to gain height. Similar history was present in maternal uncle. They had no history of peri/ intra / post-natal complications. They had normal developmental milestones and had normal scholastic performance. On examination there were no other syndromic features. Height was - 6 SDS and weight was below 5 centiles. Upper to lower segment ratio was preserved. SMR was Prepubertal. Systemic examination was unremarkable. On evaluation, IGF 1 levels were low. Dynamic pituitary testing for growth hormone deficiency failed to stimulate growth hormone. Pituitary Imaging with contrast MRI showed hypoplastic pituitary. In view of both siblings having short stature and similar history in maternal uncle, a whole exome sequencing was done, which showed homozygous mutation for Growth hormone releasing hormone receptor, Exon 3, c.214G>T (p. Glu72Ter). Thus, the diagnosis was confirmed as isolated growth hormone deficiency type 4.
Abstract 83: Frax score does not accurately identify patients who need anti-osteoporotic treatment: A cross sectional study among elderly Indian men and postmenopausal women with a low trauma forearm fracture
Authors: Basheer Shameer , Jabbar P K , Nair Abilash , Jayakumari C , Gomez Ramesh , Karthik V
Published: August 2024

Background: Early identification and treatment of osteoporosis decreases the risk of major osteoporotic fractures which cause significant morbidity and economic burden. Forearm fractures are a forerunner of hip fractures. Identifying the most sensitive method for differentiating those who requires osteoporotic treatment from others in the high risk age group is important for the resource limited nations.

Aims and Objectives: Consecutive postmenopausal females and males above 50 years with incident low trauma forearm fracture attending a tertiary care hospital in South India were studied to assess which method (DXA-BMD vs FRAX) would have best predicted the need for treatment in such patients.

Results: Sixty-four subjects (59 females and 5 males) with mean age of 63.01± 8.46 years were enrolled in the study. Forty-four (69%) subjects had T score < -2.5 at hip or spine as an indication for treatment. Using NOF guidelines FRAX tool identified 20 (31%) patients as requiring treatment while FRAX (without BMD) would have identified only 8 (12%) (p<0.05). By using the cut offs suggested by ISBMR for Indians, only 16 (25 %) and 6 (9%) using FRAX (with and without BMD respectively) would have been identified (p<0.01).

Conclusions: FRAX with BMD is a better tool compared to that without BMD to identify subjects who requires anti-osteoporotic treatment in males above 50 years and postmenopausal females who sustained low trauma forearm fracture.
Abstract 84: Clinical and aetiological spectrum of thyrotoxic patients: A multi-centre analysis
Authors: Aggarwal Ajay , Sahu Danendra , Wadhwa1 Roopak , Kapoor2 Dheeraj , Pande3 Arun Kumar
Published: August 2024

Background: Thyrotoxicosis may present with variety of symptoms and aetiologies. Its aetiology can be ascertained on the basis of history, clinical presentations, biochemistry and imaging, to manage thyrotoxicosis appropriately.

Aims and objectives: To study clinical profile and aetiology among thyrotoxic patients.

Results: We collected data of newly diagnosed thyrotoxic patients at 3 endocrinology clinics over 1 year (01/09/2016-31/08/2017). Total 263 patients were included in the study at New Delhi (109), Gurugram (99), Lucknow (55). Thyrotoxicosis was more common in females (70.8%) than males (29.2%). Thyroiditis (subacute 110, 85.9%, painless 9, 7% and postpartum 5, 3.9%) was present in 128 (48.7%) patients, 115 (43.7%) had Graves’ disease and 20 (7.6%) had nodular thyrotoxicosis (7 Solitary toxic nodule, 13 toxic multinodular goitre). Graves’ disease was most common cause of thyrotoxicosis in New Delhi (53.2%) and Lucknow (58.2%), while subacute thyroiditis in Gurugram (71.7%). Family history of thyroid disease was more prevalent in patients with Graves’ disease (48.7%) than nodular thyrotoxicosis (25%) and thyroiditis (11.7%). Thyrotoxicosis symptoms like excessive sweating (52.8%) and weight loss (47.7%) was more common with thyroiditis, while tremors (60.4%), diarrhea (56.5%), insomnia (50.9%), were more common with Graves’ disease.

Conclusion: Graves’ disease and subacute thyroiditis constitute the majority of patients suffering from thyrotoxcosis. Proper clinical evaluation and investigations are key to manage these patients.
Abstract 88: Prevalence of holotranscobalamin deficiency among vegetarian and nonvegetarian patients with type 2 diabetes mellitus using metformin
Authors: Bonny Lavanya , Bantwal Ganapathi , Ayyar Vageesh , George Belinda , Appaiah Sonali
Published: August 2024

Background: Metformin use may be associated with vitamin B12 deficiency especially in vegetarians.

Objectives: To determine the prevalence of holotranscobalamin deficiency among vegetarian and nonvegetarian patients with type 2 DM using metformin. To study the relation of dose and duration of metformin use on holotranscobalamin levels.

Results: Total of 65 patients were included. 22 were vegetarians. In the whole population, 7.7% had vitamin B12 deficiency (holotranscobalamin <25 pmol/L), 36.9% had equivocal (25-50 pmol/L) and 55.4% had normal levels (>50 pmol/L). Significantly higher proportion of vegetarians (77.3%) had deficient or equivocal holotranscobalamin compared to only 27.9% in non-vegetarians (p<0.0001). In the entire population, there was a negative but non significant correlation between duration, mean daily dose, and cumulative dose of metformin and serum holotranscobalamin. When stratified by diet status, significant negative correlation was noted between serum holotranscobalamin and duration (r=-0.48), mean daily dose (r=-0.48) and cumulative dose of metformin (r=-0.53) only in vegetarian population (p<0.05).

Conclusion: Higher daily dose, duration and cumulative dose of metformin significantly reduced serum holotranscobalamin levels in vegetarians. Empirical supplementation with B12 may be considered in vegetarians on metformin.
Abstract 90: Graves disease and parkinsonism: Is there a link?
Authors: Sourabh Sagar , Kalra1 Pramila
Published: August 2024

Background: Symptoms of Parkinsons Disease can be easily overlooked in a patient with Graves disease. We report a case of Graves's disease whose tremors persisted despite adequate therapy with beta blockers and anti-thyroid drugs.

Case Report: A sixty-five-year-old gentleman was diagnosed with Graves's disease three years ago. He was started on carbimazole, optimal doses. At the same time, the patient had slowness of movements, short stepping gait, and rigidity of limbs. The patient was diagnosed with Parkinsonism. The patient was started on optimal doses of dopaminergic drugs and was lost to follow up. The patient presented in October 2021, with weight loss, palpitations, diarrhoea, excess sweating, fine tremors of hands, anxiety and irritability, altered mental status, muscle stiffness which worsened over 4 weeks. The work up was negative for autoimmune Parkinsonism. Patient had stopped all the medications for Graves's disease and also dopaminergic drugs. Optimisation of carbimazole dose and dopaminergic drugs was done; patient is currently doing well and on regular follow up.

Conclusion: This case report highlights the coexistence of Graves and Parkinsonism and importance of distinguishing immune mediated from degenerative Parkinsonism that can coexist in the presence of Graves which is an autoimmune disorder.
Abstract 99: Effect of metformin and Vitamin E compared to lifestyle modification on AST/Platelet ratio in PCOS patients with associated NASH
Authors: Kulkarni Deepa , Pai Spoorthi , Ayyar Vageesh , Bantwal Ganapathi , George Belinda , Appaiah Sonali
Published: August 2024

Background: PCOS is associated with states of insulin resistance, dyslipidemia, obesity and NASH. Newer non invasive biochemical indices are available for the assessment of NAFLD like the AST/Platelet ratio.

Aim: To study the Effect of Metformin and Vitamin E compared to Lifestyle modification on AST/Platelet ratio in PCOS patients with associated NASH.

Result: Thirty three subjects with PCOS and NAFLD were included in the analysis. On follow up at 3 months there was a significant change in weight and BMI in the Metformin and Lifestyle intervention group, however there was no significant difference in weight in Vitamin E treated group. Vitamin E group showed significant fall in the AST/platelet ratio with p < 0.05.

Conclusion: Lifestyle intervention and Metformin can provide significant benefit in weight loss in PCOS subjects. There was an improvement in AST/Platelet ratio in those who received Vitamin E.
Abstract 101: A case of CYP11A1 enzyme deficiency with unambiguity
Authors: Vishwanath S , Bantwal Ganapathi , Ayyar Vageesh , George Belinda , Appaiah Sonali
Published: August 2024

We hereby present a 20 years old boy who presented at 14 years of age with generalized hyperpigmentation, bilateral breast enlargement, loose stools and fever. He was born out of second-degree consanguinity with uneventful birth and childhood history. On examination he had generalized hyperpigmentation, gynecomastia, no genital ambiguity with normal sexual maturity ratings. Blood biochemistry was suggestive of primary adrenal insufficiency and primary testicular failure. The computerized tomography imaging showed normal adrenal glands. With involvement of both adrenal glands and gonads, differential diagnosis including autoimmune polyglandular syndrome, NR5A1 and NR0B1 mutations were considered. Clinical exome sequencing was done which showed a novel homozygous missense variation in exon 4 of the CYP11A1 gene (chr15:g.74343895G>C). A diagnosis of side chain cleavage enzyme (CYP11A1) deficiency unusually presenting with genital unambiguity was made.
Abstract 106: Hypogonadism due to isolated luteinizing hormone receptor defect
Authors: Barnabas Rohit
Published: August 2024

Background: The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) belongs to G-protein coupled class A receptor with 12 Exons, 699 amino acids and molecular weight of 85-95KDa, the gene is located on chromosome 2p21. Mutations of LHCGR have been divided into two types based on the severity of the disease. Type 1 LCH (most severe form) causes male to female DSD, absence of sexual maturation at puberty, milder forms of resistance can present with micropenis and/or hypospadias or only infertility called type 2 LCH.

Aims and Objectives: In this study we aim to describe a case with type 2 LCH and systematically review the literature of type 2 LCH cases with available genotype data.

Results: Mr. AS presented from southern India born of third degree consanguineous marriage presented with micropenis at the age of 18 years. He had uneventful birth and was reared as a male. External genitalia showed Pubic hair stage 2, stretched penile length of 3.5 cm, bilateral testicular volume of 8 cc with no breast development. Karyotype of the patient was 46 XY and Hormonal evaluation (18 years) showed luteinizing hormone (LH) 19.92 mIU/ml, Follicular stimulating hormone (FSH) 7.62 mIU/ml, testosterone (T) 0.114 ng/ml, stimulated T 0.118 ng/ml, dihydrotestosterone (DHT) 0.199 ng/ml. Imaging showed small sized bilateral testes in the scrotum (right 2.5x1.6 cm, left 2.6x1.9 cm), with visible prostate gland, epididymis and no mullerian structures. Genetic analysis by next generation sequencing showed homozygous pathogenic mutation c.391T>C (p.Cys131Arg) in Exon 5 suggestive of leydig cell hypoplasia. He was treated with Inj testosterone and Inj Human chorionic gonadotropin (HCG) with which he had clinical improvement in terms of virilization and increase in testicular volume.

Conclusion: Leydig cell hypoplasia is a rare cause of hypogonadism.
Abstract 121: EFT in subclinical hypothyroidism and its correlation with various parameters
Authors: Sahu Madhusmita , Baliarshinha A K , Choudhury A K , Mishra I
Published: August 2024

Background: The Cardiometabolic risk associated with subclinical hypothyroidism (SCH) is well known in adults. However, there are few data available for children with SCH.

Aims and Objective: To see Epicardial Fat Thickness (EFT) in Children with Subclinical Hypothyroidism and its correlation with subclinical atherosclerosis and various parameters.

Materials and Methods: A total of 34 children with subclinical hypothyroidism presenting to the department of Endocrinology and Pediatrics were recruited. 39 healthy age and sex matched children were taken as control. They were screened for cardiometabolic parameters. Echocardiography was done for EFT and carotid intima media thickness (CIMT) was measured by noninvasive USG.

Results: The mean age of cases and controls were 10.32±3.89 and 10.08±3.3 years respectively. A total 20 (58.8%) number of cases and 20 (51.3%) number of controls were males. The mean TSH of cases and control were 9.58±4.31 mIU/ml and 3.16±1.05 mIU/ml respectively. Compared to controls, the children with SCH had significantly higher TC (p=0.05) and LDL (p=0.03) as well as the cardiac risk ratio (LDL/HDL) (p=0.002). Further on Echocardiography, EFT (6.11±0.91 vs. 4.54±0.7, p<0.001) and CIMT (0.53±0.13 vs. 0.44±0.06, p<0.001) were significantly higher in cases as compared to controls. However, the EFT did not correlate with TSH or CIMT. Further, there was no difference in EFT and other parameters in patients who were TPO positive vs. negative (p>0.05).

Conclusion: EFT and CIMT were significantly higher in SCH children. Measurement of EFT in children of SCH may identify the patients at risk of developing cardiovascular disease later in life.
Abstract 127: Pituitary resistance to thyroid hormone due to a novel mutation in the NCOR2 gene: The first case report
Authors: Shukla Ajay , Mehta Poonam , Zhou Jin , Yen Paul M , Singh Rajender , Chattopadhyay Naibedya , Sinha Rohit A , Gupta Sushil Kumar
Published: August 2024

Background: Pituitary resistance to thyroid hormone-β (RTH-β) presents with the symptoms of hyperthyroidism with inappropriate secretion of thyroid stimulating hormone (TSH). Mutation in the coding region of the TR-β gene is not observed in 10% of cases, which are termed as non-TRβ RTH. Till date, the specific contributions of co-repressors and co-activators in pituitary resistance to thyroid hormone remain unknown.

Materials and Methods: We present a case of 44-year male with pituitary RTH, showing features suggestive of thyrotoxicosis, atrial fibrillation and goiter. Clinical investigations included estimation of serum FT4, T3, TSH, TRab, TPO antibodies, Tc-thyroid scan, MRI for sella. To understand the genetic cause of the disorder, we undertook the whole genome sequencing (WES) in the proband and family members, which was followed by Sanger's sequencing for confirmation. To validate the possibility of RTH due to the novel gene discovered, we undertook in-vitro functional studies using NCOR2 siRNA.

Results: A 44 year old male presented with atrial fibrillation with thyrotoxicosis and elevated serum T4, FT4, and T3, and nonsuppresed TSH levels (serum total T4 24.50 ug/dl, total T3 5.22 nmol/l and TSH 5.50 uIU/ml. On treatment with PTU, he had serum TSH 16.24 uIU/ml, FT4 50 nmol/l, and total T3 6.61 nmol/l. Further clinical workup by 99mTc pertechnetate thyroid scan showed bilateral diffusely increased uptake, negative serum TRAb and TPO antibody. A differential diagnosis of RTH or TSH secreting pituitary adenoma was made. Gadolinium enhanced MRI of sella was normal. We observed loss of inverse correlation of serum T3 and TSH levels, signifying the loss of negative feedback mechanism. WES identified two novel mutations in the NCOR2 gene (p.Ser2304Gly, p.Ala2489Thr) in the proband. Both the mutation (p.Ala2489Thr) were confirmed in the proband and one of his children. Bioinformatics analysis suggested p.Ala2489Thr to be pathogenic. Functional studies in GH3 cell lines using NCOR2 siRNA revealed NCOR2 dependent regulation of TSH levels, further strengthening that NCOR2 mutations could cause RTH.

Conclusion: We hereby describe the first case of pituitary RTH due to a novel mutation in the NCOR2 gene in a family with thyrotoxicosis.
Abstract 132: Incidence and predictors of new onset diabetes after transplant (NODAT) in liver transplant recipients
Authors: Sheth Kaushal V , Boddula Raman , Kapoor Dharmesh , Reddy Manojkumar , Reddy Ashish
Published: August 2024

Background: NODAT (New onset Diabetes after Transplant) is associated with multiple complications in liver transplant patients which has to be diagnosed and treated early to prevent graft failure and cardiovascular morbidity and mortality.

Aims and Objectives: To know the incidence and predictors of NODAT.

Methodology: This was retro-prospective study of non-Diabetic recipients who underwent Liver Transplantation at Yashoda Hospital, Secundarabad from January 2020 to May 2021. Follow-up duration was 6 months. Total 65 patients were enrolled. All the relevant data was collected and appropriate statistical tests were applied.

Results: Total incidence of NODAT in our study was 29.2%. Among them 47.36% were transient NODAT and 52.67% were persistent NODAT. Factors significantly associated with occurrence of NODAT were: Type of Transplant (Living donor liver transplant v/s Deceased donor liver transplant), Donor CT LAI, Presence of IFG, Presence of Post-Operative Hyperglycemia, Pre transplant Magnesium & Immediate post-operative Magnesium level, Post-Operative Albumin, Trough Tacrolimus level At 3 Months, Tacrolimus and steroid dose at 3 months.

Conclusions: NODAT is significant entity to be addressed. Robust strategy should be in place for screening of NODAT. Choosing donor with Higher CT LAI and minimizing Tacrolimus level could be effective strategy for prevention of NODAT.
Abstract 135: A case of acquired Gitelman syndrome presenting as hypokalemic paralysis and AKI
Authors: Pradhan Amrita
Published: August 2024

Introduction: Gitelman syndrome is usually an inherited disorder, it is induced by defect in the thiazide sensitive Na –Cl co-transporter in distal tubules. Case reports on hypokalemia, AKI secondary to GS has been discussed in present case report.

Clinical Case: A 18 year old female referred from department of General Medicine as a case of AKI having recurrent hypokalemia. She gave history of hypokalemic paralysis. There was no potential cause of dehydration such as diarrhoea, vomiting, nephrotoxic agent intake or contrast exposure. Family history was negative. During current hospitalization, she was normotensive with normal renal function test. Other electrolyte levels including calcium and routine laboratory parameters were determined to be normal. Kidney dimensions and echogenicity were determined to be normal without hydronephrosis in the urinary system as oer USG finding. Further workup for hypokalemia revealed urine potassium creatinine ratio (17 mmol/g), ABG (pH 7.44, bicarbonate 26.5 mmol/l), urine chloride (111.3 mmol/l) and urine calcium creatinine ratio (0.05 mmol/mmol) respectively with serum Mg (1.7 mg/dl) on lower range. Based on above findings, a diagnosis of Gitelman syndrome has been made. Autoimmune etiology were ruled out. These finding suggested that patient had AKI secondary to hypokalemia. She was started on oral potassium supplementation and magnesium supplementation.

Conclusion: GS is a rare tubulopathy transmitted as an autosomal recessive trait. It is caused by mutation in thiazide sensitive Na Cl co-transporter coding gene, SLC12A3. Patients may be referred with hypokalemia, hypomagnesemia and metabolic alkalosis associated muscular weakness and cramping. By contrast, worsening hypokalemia and profound volume depletion as the predisposing factors for ischemic AKI appears to coexist.
Abstract 138: Efficacy of oral semaglutide according to race: An exploratory subgroup analysis of the PIONEER trial program
Authors: Srivastava Kunal , Desouza Cyrus , Amod Aslam , Kallenbach Klaus , Lin Peter J , Nielsen Morten Abildlund
Published: August 2024

The global PIONEER program investigated the efficacy and safety of oral semaglutide, a glucagon-like peptide-1 receptor agonist. Patients with type 2 diabetes were randomized to once-daily oral semaglutide (3, 7 or 14 mg, or flexibly dosed [flex]), placebo, or active comparator (empagliflozin 25 mg, sitagliptin 100 mg or liraglutide 1.8 mg). This exploratory subgroup analysis evaluated the effect of race on glycated hemoglobin (HbA1c) and body weight (BW) reductions at the end of treatment (week 26, 52 or 78). Data were analyzed from PIONEER 1-5, 7 and 8 by race (White, Asian, Black/African American). Baseline characteristics were generally similar across subgroups except for BW, which was lower in Asian patients. Generally, greater HbA1c reductions were observed with oral semaglutide 14 mg/flex vs. comparators across subgroups [Table 1]. In PIONEER 1, 4 and 8, there was a significant interaction between treatment and race, with greater HbA reductions and estimated treatment differences in Asian patients than in other subgroups [Table 1]. Overall, BW reductions were greater for oral semaglutide vs. comparators, regardless of subgroup and without significant interactions between treatment and race. Our findings in this exploratory subgroup analysis suggest that, in some PIONEER trials, Asian patients achieve greater HbA reductions than other race groups when treated with oral semaglutide.

JOURNAL/ijeam/04.03/02223308-202203001-00150/inline-graphic1/v/2022-10-03T190107Z/r/image-tiff
Abstract 139: Cystic parathyroid adenoma with Mayer Rokitansky Kuster Hauser syndrome: Association or coincidence?
Authors: Kadian Kavita , Vishnu R , Kaur Kirandeep , Sridharan Kalyani
Published: August 2024

Introduction: Majority of cases of primary hyperparathyroidism (PHPT) are due to single gland adenoma. Cystic parathyroid adenomas are very rare. We report an unusual case of PHPT due to a cystic adenoma with Mayer Rokitansky Kuster Hauser (MRKH) Syndrome.

Case Presentation: A 30-year-old woman with primary amenorrhoea presented with polyuria and bilateral renal stone disease. Biochemical investigations showed corrected calcium of 13mg/dl and parathormone (PTH) levels of 418 pg/ml. Ultrasonography of neck showed solid cystic nodule and Sestamibi scan showed nonMIBI-avid hypodense nodule in right thyroid lobe. Intracystic fluid aspirated from the lesion showed PTH of >2000 pg/ml. The lesion was surgically excised and patient achieved surgical remission. Evaluation of primary amenorrhea showed normal gonadotropins and hypoplastic uterus and upper two-thirds of vagina on magnetic resonance imaging of pelvis which was consistent with MRKH syndrome. Since literature review showed HNF1B to be associated with genitourinary abnormalities and PHPT, after patient consent sample for HNFIB mutation was sent and is awaited.

Conclusion: Possibility of cystic parathyroid adenoma should be kept while localizing for PHPT as it poses a diagnostic challenge. Concurrent MRKH syndrome could be a true association or a mere coincidence.
The Therapeutic Effect of Shirvan Herbal Ointment on Human Cutaneous Leishmaniasis Compared with Glucantime
Authors: Aghaei Maryam , Aghaei Shahrzad , Ghelichzadeh Ali , Ansari Nazli , Fakhar Mahdi , Hosseini Sayed Mohsen , Shahmoradi Zabihollah , Hejazi Seyed Hossein
Published: August 2024

Background:

Cutaneous leishmaniasis (CL) infection is caused by the Leishmania major (L. major) parasite and affects 1.5 to 2 million people worldwide each year. Although research into vaccines and antiparasitic drugs has been somewhat successful, their adverse effects include high toxicity, prolonged regeneration, and scarring. This has highlighted the importance of research to replace natural products with antibacterial and antioxidant properties, such as vegetable extracts and oils. Since, the anti-leishmaniasis effect of each of the components of Shirvan herbal ointment (aloe vera, Brazembel, Nigella sativa, propolis, lavender, and olive oil) has been separately studied and confirmed, it seems that the combination of these components can have an increasing anti-leishmanial effect to treat CL. Therefore, this study investigated the therapeutic impact of Shirvan herbal ointment on Iranian patients with leishmaniasis in comparison with glucantime (meglumine).

Materials and Methods:

Sixty patients with leishmaniasis were divided into the control and test groups. The control and test groups received intralesional glucantime and Shirvan herbal cream (two times daily), respectively.

Results:

The size mean of the lesion was 51.5 ± 32.5 before and 11.11 ± 16.28 after treatment in the control group and 50.8 ± 31.2 before and 0.0 ± 0.0 after treatment in the test group. In addition, the period mean of treatment was 43.9 ± 14.4 days and 30.5 ± 7.4 days in the control and test groups, respectively. There was a significant difference in lesion size between the two groups after treatment.

Conclusion:

Data suggested that Shirvan herbal ointment can be an alternative drug in the treatment of human CL.
Cloning and Optimization of Intracellular Expression of Human Interferon β-1a in Pichia pastoris GS115
Authors: Saeidi Diba , Saeidi Sara , Moazen Fatemeh , Akbari Vajihe
Published: August 2024

Background:

Interferon-beta (IFN-β) is a cytokine with a wide range of biological and pharmaceutical applications, including multiple sclerosis (MS), cancer, some autoimmune disorders, and viral infectious diseases. Thus, many studies have been performed to develop novel strategies for the high-yield production of functional IFN-β in a cost-effective approach. Here, we aimed to improve the intracellular expression of IFN-β-1a in Pichia pastoris.

Materials and Methods:

The gene of IFN-β-1a was successfully sub-cloned into the pPICZA vector. The recombinant vector was transfected to P. pastoris GS115 cells by electroporation. After screening positive P. pastoris transformants, the expression of IFN-β-1a was evaluated and the cultivation conditions, including temperature, time of incubation, and methanol concentration, were optimized. The protein expression levels were analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE).

Results:

The double digestion with EcoRI and XhoI restriction enzymes and sequence analysis confirmed the correct sub-cloning of the IFN-β-1a gene into pPICZA. SDS-PAGE analysis showed that the highest level of IFN-β-1a (25 mg per 1 L of yeast culture) was produced with 2% methanol at 28°C after 72 h incubation.

Conclusion:

Optimization of cultivation conditions for intracellular expression of IFN-β-1a was successfully performed. This approach can be generally applied to improve the production yield and quality of other recombinant proteins in P. pastoris.
A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria
Authors: Rahimzadeh Arian , Khosravi Teymoor , Motallebi Farzaneh , Al Sudani Zainab M. , Vaghefi Fatemeh , Kowsari Ali , Oladnabi Morteza
Published: August 2024

Background:

The PAH gene mutations have been linked to the development of phenylketonuria (PKU), which is recognized as the most common inborn metabolic disorder, and is caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme. The Iranian population, known for its diversity and high consanguinity, offers a valuable sample for studying autosomal recessive disorders. Our study investigated three unrelated families with PKU from Iran, utilizing clinical, laboratory, and computational approaches.

Materials and Methods:

We performed direct PCR sequencing for 13 exons of the PAH gene on three Iranian patients who were diagnosed with PKU. Then, Sanger sequencing confirmed the segregation of the mutations from parents to probands. Pathogenicity predictor tools, including ACMG, CADD, SIFT, Polyphen-2, and Mutation Taster, were utilized to analyze the identified genetic variants. The three-dimensional structure of the mutant forms of the protein was predicted. We also analyzed the protein–protein interactions of PAH using the STRING database.

Results:

All three patients exhibited rare compound heterozygosity rearrangements in the PAH gene (NM_000277.3). These included three missense variants: [c.533A>G/c.1222C>T], [c.526C>T/c.1222C>T], and [c.533A> / c.526C>T].

Conclusion:

This study adds to the body of evidence establishing the association between PAH mutations and the development of PKU. We speculated that the conjunction of a high consanguinity rate in populations such as Iran, coupled with the founder effect, can give rise to atypical genetic profiles, as observed in the rearrangement of compound heterozygosity in this study Moreover, our research underscores the significance of genetic testing in the precise diagnosis of individuals affected by inborn errors of metabolism.
Prophylactic Cyproheptadine to Control Paroxysmal Hemicrania Attacks: A Preliminary Investigation
Authors: Nasiri Jafar , Zolfaghari Mohammad R. , Yaghini Omid , Ghazavi Khorasgani Mohammad R. , Hosseini Moshkenani Neda
Published: August 2024

Background:

Paroxysmal hemicrania (PH) is a severe short-lasting headache usually localized around the eye. It might occur in conjunction with ipsilateral autonomic manifestations of trigeminal nerve stimulation. PH responds well to indomethacin treatment; however, considering the adverse effects of indomethacin, its long-term use is a matter of question and investigations about other prophylactic medications are going on, but they are inconclusive. The current study aims to investigate the efficacy of prophylactic use of cyproheptadine to control PH symptoms.

Materials and Methods:

The current clinical trial was conducted on 20 children diagnosed with PH undergoing prophylactic treatment with cyproheptadine syrup at a dosage of 0.2–0.4 mg/kg twice daily for a period of 3 months. The duration, frequency, and severity of headaches were assessed at baseline and then monthly for 3 months.

Results:

Significantly shorter duration, less frequency, and less severity of headaches were observed in the postintervention assessments of the patients (P < 0.001). The effect size analysis showed that the greatest effect of the treatment was on the intensity of the headache (effect size: 0.866) and the least effect was on duration of the headache (effect size: 0.775). Drowsiness (5%) and increased appetite (30%) were the only adverse effects of treatment with cyproheptadine.

Conclusion:

Findings of this study showed that short-term prophylactic cyproheptadine in divided doses of 0.2–0.4 mg/kg could appropriately improve PH in terms of frequency, duration, and the intensity of the attacks. Nevertheless, further investigations are strongly recommended.
Documents to procure gamma irradiation chamber and license for operation in blood center
Authors: Luhar Rakesh Kumar , Maheshwari Kishore , Shah Ripal J. , Harimoorthy V.
Published: August 2024

Graft-versus-host disease is a critical posttransplant complication, particularly affecting individuals with compromised immune systems. Patients undergoing bone marrow transplants, neonates receiving intrauterine transfusions, and those recipients of blood from first-degree relatives are vulnerable to this condition. The significance of efficient lymphocyte inactivation has driven the widespread adoption of Gamma Irradiation Chambers (GICs) utilizing radiation sources such as Cesium-137 (Cs-137) or Cobalt-60 (Co-60). However, the effective operation of these chambers is contingent on navigating a complex regulatory landscape (Cs-137 or Co-60 is commonly used as the source of gamma rays. The usual dose is 25 Gray [Gy] to 35 Gy [1 Gy = 100 rads], this dosage inactivates 85%–95% of lymphocytes in the blood components without any adverse effect on other cellular components of the blood). GIC unit mainly houses either Co-60 or Cs-137as radiation sources (model no BI-2000, BI-5000 mfr. by Board of Radiation and Isotope Technology with typical radioactivity ranging from tens to hundreds of terabecquerel. These units are also used in research institutions, hospitals, blood center, etc. A review of legal, regulatory, and policy aspects of the operation of GIC in India regarding its issues, challenges, and opportunities. We aimed to prepare a standard guidance document for GIC for a smooth process of the Atomic Energy Regulatory Board (AERB) licensing and equipment purchasing. The present article was written based on the experience of applying for GIC with AERB and recurrent support extended to colleagues in the fraternity. The documents prepared for licensing and various procedural steps involved in the same are included. Many documents and many days are required from procurement to the receipt of the license for operation GIC. At the same time, with very few user institutes and less number of experienced people in the country, it becomes difficult to find a proper method to approach the national government body. If blood center/radiological safety officer are properly trained as per the guidelines available, this can reduce man-days and facilitate the earliest operations.
Autoimmune hemolytic anemia with Donath–Landsteiner antibody: A rare case report
Authors: Chowdhry Mohit , Gupta Aashna , Jain Rashmi , Sharma Ankita
Published: August 2024

Paroxysmal cold hemoglobinuria (PCH) is a rare autoimmune hemolytic anemia characterized by the abrupt onset of hemoglobinuria and anemia, typically following exposure to cold temperatures. The pathogenesis of PCH is primarily associated with the presence of a unique autoantibody known as the Donath–Landsteiner antibody, a biphasic hemolysin (immunoglobulin G) with specificity for P blood group antigens. This rare clinical entity can manifest at any age; however, in children, it typically follows a viral upper respiratory tract infection or immunization. We hereby report a rare case of PCH in a 3-year-old boy who presented at our hospital with severe anemia along with liver and renal dysfunction.
A rare case of hemolytic disease-associated thrombocytopenia mimicking alloimmune thrombocytopenia: Salvaging a precious baby
Authors: Kaur Pandeep , Bava Davood , Kumar Satish , Setya Divya , Gupta Akarshan , Chatterjee Amit Kumar
Published: August 2024

Thrombocytopenia associated with hemolytic disease of fetus and newborn (HDFN) is usually mild-to-moderate severity. Neonatal alloimmune thrombocytopenia (NAIT) is one of the leading causes of severe thrombocytopenia in neonates. We describe a rare case of very severe thrombocytopenia (5 g/L) with bleeding manifestations associated with HDFN mimicking NAIT. The baby was a preterm female, born to a 34-year-old multiparous mother with a bad obstetric history and multiple alloantibodies (anti-D, anti-C, anti-E, and anti-Jka). She was managed with phototherapy, exchange transfusion with phenotype-matched packed red blood cells, random donor platelets and intravenous immunoglobulin as platelet crossmatching could not provide compatible platelets. NAIT was ruled out with human platelet antigen (HPA) genotyping of the baby, the mother, and the father. It was concluded that the very severe thrombocytopenia might be due to HDFN after ruling out the other causes. HDFN can rarely cause very severe thrombocytopenia. However, when a newborn presents with severe/very severe thrombocytopenia, NAIT is to be ruled out with HPA genotyping, even in resource-limited settings, to plan out subsequent pregnancies.
Clinicoepidemiological Pattern and Quality of Life Indices among Adult Males with Acne Vulgaris: A Hospital-based Cross-sectional Study
Authors: Reddy Ananya B. , Shafi Fathima , Pinto Malcolm , Hegde Spandana Prakash , Asfiya Amina
Published: August 2024

Background and Aim:

Adults with acne have been found to have a higher incidence of anxiety, depression, and suicidal ideation as compared to the general population. To the best of our knowledge, there is a dearth of studies assessing the quality of life among males with acne. This study explores the clinical patterns of acne with special emphasis on quality of life among adult males with acne vulgaris.

Materials and Methods:

All male patients visiting the dermatology outpatient department with acne were included after obtaining informed consent. Demographic data were recorded. Clinical assessment was done based on Global Acne Grading System (GAGS) and qualitative global acne scar grading. Assessment of quality of life was done using Dermatological Life Quality Index (DLQI) and Cardiff Acne Disability Index (CADI) in each patient.

Results:

Among 322 patients recruited in this study, 293 patients (91.3%) had mild acne, followed by 29 patients (8.7%) who had moderate acne as per GAGS score. The mean DLQI and CADI scores were 5.07 ± 5.0 and 4.0 ± 2.8, respectively. GAGS was found to have a significant correlation with CADI but not with DLQI.

Conclusion:

CADI score is an important tool which can enable dermatologists to assess the psychosocial burden of the disease in men with acne. This can enable the development of a comprehensive management plan which will enable better treatment and better quality of life in men with acne.
An Educational Intervention on Situational Awareness and Understanding of Menstrual Hygiene, Knowledge, Taboo, and Its Practices among School-going Adolescent Girls in Rural Areas of Belagavi, Karnataka
Authors: Khan Nagma , Mahishale Arati
Published: August 2024

Background and Aim:

Menstruation is a normal physiological event for teenage girls who reach reproductive age. Superstitions and social taboos nevertheless surround it. An inadequate understanding of the menstrual cycle might lead to risky hygiene practices. Despite such clinical and educational impacts, menstruation-related information and hygienic behaviors are not adequately addressed in India, particularly among adolescent girls. Hence, the main objective of this study was to enhance adolescent schoolgirls’ knowledge and usage of menstrual hygiene management in the Belagavi District through educational intervention.

Materials and Methods:

Four eighty-four adolescent girls aged between 12 and 19 years were randomly assigned into the intervention group (IG group) and control group (CG group) (n = 242 per group). Both groups received one session of an educational intervention. Before and after the intervention, they were requested to complete outcome assessments using the Menstrual Knowledge, Sociocultural Restrictions and Barriers Questionnaire and Menstrual Practice Needs Scale-36.

Results:

The result of the study has revealed statistical significance. The IG group demonstrated an extremely significant change in both outcome measures’ preintervention and postintervention scores (P < 0.001). In comparison to the CG, the interventional group had superior postinterventional knowledge and hygiene practices, according to the between-group analysis (P < 0.001).

Conclusion:

According to the current research findings, knowledge levels significantly increased in the IG (88.8%) and the CG (28.45%). Adolescent girls’ practice scores also revealed a significant rise in the IG of 44.6% and no change in the CG. Thus, the educational program’s goals of enhancing menstrual hygiene understanding and practice were achieved effectively.
Troubled Nurse: The Physical and Psycho-emotional Effects of Diabetes Care on Nurses
Authors: Olorunfemi Olaolorunpo , Bamidele Oreoluwa Oluwatomiwa
Published: August 2024

ABSTRACT

Background:

Diabetes care imposes substantial physical and psycho-emotional demands on nurses, influencing both their personal well-being and professional efficacy. The relentless nature of managing chronic illness, coupled with the emotional toll of patient care, often leads to increased levels of stress, fatigue, and burnout among nurses. This review article aims to assess the physical and psycho-emotional effects of diabetes care on nurses.

Methods:

From 2018 to 2024, the literature on relevant issues was obtained from previously published scholars on PubMed, PsycINFO, and Google Scholar

Results:

This review shows that nurses caring for patients with diabetes frequently experience stress, weariness, back pain, and musculoskeletal difficulties due to the chronic nature of the disease and the high demands of patient care.

Conclusion:

These problems necessitate focused measures to improve nurses’ health, such as improving workplace circumstances and providing emotional support, which can reduce the negative impacts and encourage better care for both patients and nurses.