Introduction: β-thalassaemia major, due to imbalance, missing or deficiency of β-globin chain synthesis pathway, is marked as a hereditary disorder. Homozygous state presents with severe anaemia. Regular blood transfusions and chelation therapy increase the life expectancy in thalassaemia patients. Due to recent advances in the treatment paradigm of β-thalassaemia major patients, there has been a significant increase in their lifespan but, due to the treatment related iron overload, endocrine defects like hypogonadism, diabetes mellitus, hypothyroidism and Hypoparathyroidism (HPT) have been seen to progress. Diverse studies state the occurrence of HPT to be from none upto almost 22.5% in patients. It has also been recognised that asymptomatic hypocalcaemia is much more common and can be overlooked unless precisely viewed. Aim: To estimate and compare the biochemical parameters related to bone turnover in regularly transfused thalassaemia patients in different age groups and to find out significant correlation among the biochemical markers. Materials and Methods: In this cross-sectional study conducted at Calcutta National Medical College, Kolkata, West Bengal, India, from January 2017 till January 2018, 100 β-thalassaemia major patients were enrolled. Serum Parathyroid Hormone (PTH), serum ferritin, ionic calcium (Ca2+), Alkaline Phosphatase (ALP), phosphorus (P) and 25-Hydroxy vitamin D (25-OHD) levels were estimated in these patients. Statistical evaluation was done by the Statistical Package for the Social Sciences (SPSS), version 12.0. Result was reported as mean±SD. Pearson correlation coefficient was used to determine the association of serum ferritin levels and parathormone levels. The p-value of <0.05 was considered as statistically significant. Results: Out of 100 patients, 19 patients had HPT. The mean age was found to be 12.6 years on diagnosis, mean ionised calcium was 0.95 mmol/L, mean serum ferritin was 3045 μg/L (range 1209-10,000 µg/L) and mean serum phosphate was 1.88 mmol/L (range 1.50-2.73 mmol/L). Serum PTH values of 7.04 pg/mL was found to be low. Negative correlation serum PTH and ferritin levels were found. Significant higher values of mean serum ferritin (2789 μg/L) and lower values of parathormone (17.13 pg/mL) was found in the age group of 11-18 years as compared to the other age group of ≤10 years with serum ferritin and parathormones values being 1648 μg/L and 23.44 pg/mL, respectively. Conclusion: Regularly transfused β-thalassaemia major patients, inspite of receiving chelation therapy tend to develop altered calcium and vitamin D homeostasis once they enter second decade of life. Thereby, biochemical parameters related to bone profile which includes ionic calcium, vitamin D, phosphate and parathyroid hormones levels should stringently monitored once the patient crosses first decade of life to prevent any development of hypocalcaemia or overt HPT.
Background: Polycystic ovary syndrome (PCOS) has taken the prime position as an endocrine disease in women of reproductive age and is estimated to affect 2.2–22.5% worldwide and in Indian women it ranges from 9% to 12%. The primary defects that cause PCOS still remains unknown. A lot of genetic factors not excluding polymorphisms and mutations of multiple genes have been linked with PCOS, exact mechanisms which might be the cause of PCOS are yet unknown. Angiotensin converting enzyme (ACE) and its yields are related with angiogenesis of ovarian epithelium, restoration of meiosis, steroidogenesis, and follicular growth. Aims and Objectives: The present study was aimed to establish the association of ACE insertion/deletion (I/D) polymorphism in PCOS patients and to assess the influence of this polymorphism on the metabolic components of PCOS. Materials and Methods: Genomic DNA was extracted from blood obtained from 100 patients with PCOS and 100 healthy controls following ethical guidelines. DNA was amplified by polymerase chain reaction (PCR) using I/D distinct allele primers. PCR products were assessed after being exposed to gel electrophoresis. Results were analyzed in respect to biochemical parameters. Results: The allelic frequency and genotypic distribution of the ACE gene polymorphism is associated with PCOS in women. The concentrations of testosterones as well as luteinizing hormone/follicle stimulating hormone ratio among the distinct genotypes were significantly different. The presence of “D” allele in a population more likely to be associated with formation of polycystic ovary and hyperandrogenism was observed. Conclusion: The data suggest that ACE I/D polymorphism and PCOS pathology are unassociated. However, aggravation of clinical symptoms of PCOS can be linked to the steroidogenesis which, in turn, is associated with the polymorphism.
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Purpose: Low vision patients have difficulties maintaining and keeping social distancing guidelines in the fight against the spread of the COVID-19 outbreak. This study examines COVID-19 and social distancing: Challenges faced by patients with low vision. The study objective is to identify the contribution of Covid-19 to the challenges faced by patients with low vision who visited the hospital. 35 low vision patients participated in the study. Method: A self-administrated, cross-sectional survey in English was distributed using Google forms through various professional bodies across patients with low vision visiting the hospital. The questionnaire was also presented to the patients via telephonic conversation. The study objective is to identify the contribution of Covid-19 to the challenges faced by patients with low vision visited to the hospital and examine how social distancing measure has increased the challenges faced by patients with low vision. The questionnaire will contain closed-ended questions. Result: Questionnaires were distributed to patients with low vision attending the hospital 35 responses were obtained through the questionnaire. Among the participants, 22 were males, and 19 were females. Patients who participated in the study were between 10 to 70 years of age. Social distancing increases the challenges faced by people with low vision. People with low vision had restrictive movement due to problems in maintaining social distancing and travelling outside. Challenges for low vision people depend upon the level of their sight loss; blind people rely on canes and a human guide. An individual with low vision can use their visual clues by identifying the shape and size of the object and their other senses to identify the object. Conclusion: Coronavirus pandemic is a worldwide challenge that has spread across all sectors, including human. It applies to all industries. In no doubt, COVID-19 contributes to the faced by patients with low vision and the social distancing measures, which is one of the best ways of reducing the further spread of the disease across the globe. Key words: COVID-19, Challenges, Optometrist, Low Vision, Social Distancing.
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