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Case report: Pediatric acute lymphoblastic leukemia with trisomy 5 as sole cytogenetic abnormality

Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood and represents about 75 -80% of ALL in pediatric age group. ALL is characterised by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors and replacing the bone marrow elements and other lymphoid organs by leukemic cells (ALL blasts). The 5 year survival rate for childhood ALL is about 90% overall, children in lower risk groups have a better prognosis than those in higher risk group. Risk assessment is mainly based on cytogenetic and molecular factors in addition, clinical symptoms and signs, White blood cell count at diagnosis are all recognized for stratification. In present case the cytogenetic analysis showed the presence of trisomy 5 as a sole numerical abnormality. Trisomy 5 accounts for aneuploidy change in the cytogenetic analysis. The gain or loss of whole chromosome, ie aneuploidy is a major genomic insult in human cancers. Aneuploidy is observed in ~90% of solid tumors and~60% of hematological maignancies. The increased gene expression in trisomy 5 causes chromosomal instability (CIN), microsatellite instability (MIN) and genomic instabilty which inturn causes the cancer genome to undergo evolution, adaptation and favors tumor progression in patients with B cell acute lymphoblastic leukemia.

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Clinical validation of electrochemical biosensor for the detection of methylglyoxal in subjects with type-2 diabetes mellitus

Methylglyoxal (MG), a highly reactive by-product of glycolysis, is involved in the formation of advanced glycation end-products (AGEs). Elevated levels of MG have been correlated with micro-and macro-angiopathic complications in diabetes, including neuropathy, kidney disease, retinopathy, and cardiovascular disease. Therefore, point-of-care devices for detecting MG may be of great use in the screening of diabetes complications. This study was designed to determine the utility of the developed electrochemical biosensor to measure the level of MG in human plasma from type-2 diabetes mellitus patients. Electrochemical studies were carried out with optimized experimental parameters using the modified Platinum-electrode. Subsequently, clinical studies using 350 blood plasma samples were conducted and the results were validated against the ELISA kit, Normal Glucose Tolerance (NGT), and glycosylated haemoglobin (HbA1c). The MG sensor exhibited a linear range of 1.0–7.5 μM concentration with a sensitivity of 1.02 mA µM−1, a limit of detection of 0.21 µM, a limit of quantification of 0.70 µM and a response time less than 10 s. The sensor showed 90% correlation with ELISA data. The developed biosensor showed a significant correlation with HbA1c and fasting plasma glucose suggesting that it can be used as a point-of-care device to screen for diabetes.

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Incidence of Prosthetic Valvular Thrombosis in Rheumatic Heart Valve Diseases and Risk Factors for Mortality: Experience from a Tertiary Care Center with Review of Management Options

Background Prosthetic valve thrombosis bears significant risks of morbidity and mortality. In our study, we explore the risk factors associated with thrombolysis for thrombosis of prosthetic valves of the heart. Materials and Methods This is a hospital-based cross-sectional study with 60 patients with valve replacement between 25 and 60 years. Using an organized questionnaire we have obtained data on sociodemographic, behavioral risk factors, and previous history of other medical conditions. Results and Discussion The incidence of prosthetic valve thrombosis was 4% ( n = 60). The prevalence of aortic valve thrombosis was found to be 3.4% and mitral valve thrombosis was 5.2%. The mean age group of the study population was 30 ± 10 years. The incidence was highest (31%) in the 30–40 years age group. Aortic valve thrombosis was the most common ( n = 48, 80%). The overall mortality was 38% ( n = 23). The mortality rate due to Aortic valve and Mitral valvar thrombosis was 41.06% ( n = 20) and 20% ( n = 3), respectively. Sub-therapeutic international normalized ratio (INR) was noted in 86% ( n = 52) patients and drug non-compliance was 70% ( n = 42). All patients underwent thrombolysis, considering the higher severity of functional class. The risk factors significant for mortality were previous history of valve thrombosis, subtherapeutic INR and aortic valve. Conclusions Aoretic valve prosthetic valve thrombosis was the most common and the overall mortality was higher in women. High mortality was observed in the cohort. Previous history of thrombosis and subtherapeutic INR is an important risk factor for mortality.

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AB1718-PARE DISEASE AWARENESS, MANAGEMENT PERCEPTIONS AND CARE SATISFACTION AMONG PATIENTS WITH PSORIATIC ARTHRITIS: A PROSPECTIVE MULTI-CENTRE SURVEY FROM INDIA

BackgroundPsoriatic arthritis (PsA) is a disease with heterogenous manifestations, which affects personal and professional aspects of patients’ lives. Perception of disease state in PsA affects patients significantly. However, studies examining PsA patients’ outlook about their disease are scarce and there are no studies from India examining PsA patients’ viewpoints about their disease.ObjectivesThe main objective of this multi-centric multiple domain survey was to study the PsA patients’ perspectives.MethodsA survey questionnaire with items on PsA patients’ demographics, knowledge, awareness and perception of disease, its treatment, physical therapy, quality of life and the care they received was designed. After internal and external validation, a pilot survey was conducted, and survey modified. The final survey was (with translations in local languages) administered by the participating 16 centres across India.ResultsThere were 262 respondents with mean age of 45.14±12.89 years (56% male). Forty percent of the patients had first consultation more than a year after the onset of joint pain and in a majority their current diagnosis was made by a rheumatologist. Most of the patients had psoriasis (92%) and arthralgia (78%) for more than one year, however, only 60% respondents took a doctor’s opinion for joint symptoms within one year. For two third of the patients’, a rheumatologist made the diagnosis of PsA followed by a dermatologist (15%) and general physicians (8%). Over 83% of patients were consulting their rheumatologist once every three months or earlier and were fully compliant with the treatment. Busy schedules and cost of therapy were the most common reasons for non-adherence to therapy (Table 1). Eighty-eight patients (34%) were not fully satisfied with their current treatment. Twenty-one.% of the survey respondents were still unaware of the term PsA and 10% were unaware of their current diagnosis. Over two-third of patients had never seen a physiotherapist and listed lack of time, pain, and lethargy as the main barriers to exercising. PsA had affected social and employment status of about half of the survey patients. Fatigue, busy work schedule, not able to lift weights, not able to travel without pain were elucidated by patients as main reason for this effect. Most of the patients were satisfied with disease information provided by rheumatologist and dermatologists. Eighty five % patients in this survey reported not taking any form of complementary alternative medicine therapy. The unmet needs of patients identified in this survey were better provision of remote or online consultation, reduction in pill load, better patient education on disease and drugs and financial help for biological therapies.Table 1.Common themes identified in open ended responsesThemes of open ended questionsPatient ResponsesCommon side effects with medicationsDyspepsia and nausea after medications (most common), fatigue, hair lossIf you are not taking the medications regularly, what are the reasons for the same?Busy work schedule and high cost of medications (most common cause), intolerance to medications, fear of injections, high pill load, high cost of medications, lack of proper guidanceWhat, if any, would you say are the barriers to exercising for you?Lack of time, pain during exercises, feeling of lethargy/tiredness so not able to do exercisesHas PsA affected your employment status?If yes, in what way?Not able to lift weights, not able to sit for long time, lack of energyHas PsA affected your ability to do your regular daily activities (housework, shopping, childcare, socializing) other than work at a job?If yes, in what way?Can`t travel to socialize, can’t socialize due to constant pain, getting tired quickly, need assistance, lethargy, fatigueConclusionThis survey informs that although survey participants are satisfied with care given by rheumatologist and dermatologists, the disease is influencing their quality of life significantly by affecting socialization and occupation.REFERENCES:NIL.Acknowledgements:NIL.Disclosure of InterestsNone Declared.

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