Browsing by Author "Jain, Prachi"
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Item Comparative Efficacy and Safety of Oral Iron Chelators and their Novel Combination in Children with Thalassemia.(2016-03) Gomber, Sunil; Jain, Prachi; Sharma, Satender; Narang, ManishObjective: To compare the efficacy and safety of oral iron chelators (Deferiprone and Deferasirox) when used singly and in combination in multi-transfused children with thalassemia. Design: Prospective comparative study. Setting: Thalassemia Center of a medical college affiliated hospital Participants and Intervention: 49 multi-transfused children with thalassemia with a mean (SD) age 11.6 (6.21) y received daily chelation therapy with either deferiprone alone (75 mg/kg/day in 3 divided doses), deferasirox alone (30 mg/kg/day single dose) or their daily combination (same dose as monotherapy) for 12 months. Outcome measures: Serum ferritin levels at the start of study, after 6 months and after 12 months. MRI T2* of liver and heart initially and after 6 months of follow up. 24-hour urinary iron excretion values at the outset and after 12 months of chelation therapy. At every visit for blood transfusion, all patients were clinically assessed for any adverse effects; liver and renal functions were monitored 6-monthly. Results: After 12 months of respective chelation therapy, serum ferritin values decreased from a mean of 3140.5 ng/mL to 2910.0 ng/mL in deferiprone alone group, 3859.2 ng/mL to 3417.4 ng/mL in deferasirox alone group and from 3696.5 ng/mL to 2572.1 ng/mL in the combination group. The combination therapy was more efficacious in causing fall in serum ferritin levels compared to deferiprone and deferasirox monotherapy (P=0.035 and 0.040, respectively). Results of MRI T2* were equivocal. Combined drug usage produced maximum negative iron balance in the body by maximally increasing the iron excretion in urine from 61.1 µmol/day to 343.3 µmol/day (P=0.002). No significant adverse reactions were noticed in either the monotherapy or the combination group. Conclusion: Oral combination therapy of deferiprone and deferasirox appears to be an efficacious and safe modality to reduce serum ferritin in multi-transfused children with thalassemia.Item Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India(Indian Academy of Pediatrics, 2019-03) Sachdeva, Anupam; Jain, Prachi; Gunasekaran, Vinod; Mahay, Sunita Bijarnia; Mukherjee, Sharmila; Hagerman, Randi; Shankar, Suma; Kapoor, Seema; Kedia, Shalini NJustification:Fragile X Syndrome (FXS) is the most common genetic cause of inherited intellectual disability and autism spectrumdisorder (ASD). Early identification results in appropriate management and improvement in functioning. Risk assessment in other familymembers can lead to prevention of the disorder. This necessitated the formulation of IAP recommendations for the diagnosis andmanagement of FXS in Indian children and adolescents.Process:The meeting on formulation of national consensus guidelines on Fragile X syndrome was organized by the Indian Academy ofPediatrics in New Delhi on 25th February, 2017. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists,Pediatric Neurologists, Gynecologists, Geneticists, Clinical Psychologists and Remedial Educators, and representatives of ParentOrganizations. Guidelines were framed after extensive discussions. A writing committee was formed that drafted the manuscript,which was circulated among members for critical appraisal, and finalized.Recommendations: The committee recommended that early diagnosis of FXS is crucial for early, timely and appropriatemanagement. The interventions including timely occupational therapy, speech therapy and behavioral modifications help to improve thedevelopmental potential and reduce the maladaptive behavior. Pharmacotherapy may be needed to control and improve behavioralsymptoms. In addition, the emergence of targeted treatments such as low dose sertraline, metformin and /or minocycline may also behelpful for behavior, and perhaps cognition. Genetic counselling is helpful to communicate the risk for future children with FXS orpermutation involvement.Item Differential gene expression analysis in germinating and dormant teliospores of Tilletia indica using RNA seq approach(CSIR-NIScPR, 2023-03) M, Haritha Mohan; Gurjar, Malkhan Singh; Jain, Prachi; Kumar, Naresh; Saharan, Mahender Singh; Aggarwal, RashmiKarnal bunt of wheat is an important quarantine disease that interrupts India’s wheat trade in the international market. The whole transcriptome of germinating and dormant teliospores of Tilletia indica was performed using the RNA Seq approach to identify germination-related genes. Approximately 63 million reads were generated using the RNA sequencing by the Illumina NextSeq500 platform. The high-quality reads were deposited in NCBI SRA database (accession: PRJNA522347). The unigenes from the pooled teliospores were 16,575 having unigenes length of 28,998,753 bases. The high-quality reads of germinating teliospores mapped on to 21,505 predicted CDSs. 9,680 CDSs were common between dormant and germinating teliospores of T. indica. 11,825 CDSs were found to be in germinating teliospores while only 91 were unique in dormant spores of pathogen. The pathway analysis showed the highest number of pathways was found in germinating spores than dormant spores. The highest numbers of CDSs were found to be associated with translation (431 in number), transport and catabolism (340), signal transduction (326), and carbohydrate metabolism (283). The differential expression analysis (DESeq) of germinating and dormant teliospores showed that 686 CDS were up-regulated and 114 CDS were down-regulated in the germinating teliospores. Significant germination-related genes in the spores were validated using qPCR analysis. Ten genes viz. Ti3931, Ti6828, Ti7098, Ti7462, Ti7522, Ti 9289, Ti 8670, Ti 7959, Ti 7809,and Ti10095 were highly up-regulated in germinated teliospores which may have role in germination of spores.Further, these differentially expressed genes provide insights into the molecular events. This first study of transcriptome will be helpful to devise better management strategies to manage Karnal bunt disease.Item Overall and Event Free Survival of Childhood Cancer - Report From a Hospital-based Cancer Registry in Northern India, 2013-21(Indian Academy of Pediatrics, 2023-07) Arora, Ramandeep Singh; Kumari, Rashmi; Adhana, Arun; Tripathi, Rashi; Sachdev, Mansi; Jain, PrachiObjectives: Using data from a hospital-based cancer registry (HBCR) in the private sector in Northern India, we provide overall survival (OS) and event-free survival (EFS) for childhood cancer patients. Methods: All newly diagnosed childhood (age <18 years) cancer patients in our HBCR registered between March 1, 2013 till July 31, 2021 were eligible. 3-year and 5-year OS (death was an event), EFSc (death, progression/relapse was an event), and EFSa (death, progression/relapse, abandonment of treatment was an event) were calculated using the Kaplan-Meier method. Regression analysis was done to see their association with demographic, diagnostic and treatment variables. Results: 705 newly diagnosed children (36.2% female) with cancer were registered. Common cancers were leukemias (26%), CNS tumors (20%) and bone tumors (16%). 202 (28.6%) had experienced an event at median follow up of 1.95 years (range 0-8.14 years), which included 23 (3.3%) who abandoned treatment. The 3- year OS, EFSc, EFSa were 70.8%, 64.4% and 63.6%, respectively. Correspondingly, 5-year OS, EFSc, EFSa were 66%, 58.6% and 57.5%, respectively. There was no significant difference by age group, gender, nationality, and if cancer directed treatment initiated elsewhere. The OS, EFSa and EFSc by the main and the extended International Childhood Cancer Classification categories varied significantly (P<0.001). Conclusion: We add more recent registry-based OS data on childhood cancer in India and present the first estimates on EFS.Item Retinoblastoma: A Curse to Childhood.(2013-07) Jhagta, Harpal Singh; Jain, Prachi; Gupta, Manoj; Bajaj, AshishRetinoblastoma is the most common intraocular malignancy in children. With the improvement in diagnostic and treatment modalities, early diagnosis and prompt treatment have remarkably improved the survival and salvageable vision in retinoblastoma patients. We report a case of a 14-month-old female child who presented to us with intermittent deviation of both eyes and white reflex in both eyes along with redness and photophobia in right eye, she was diagnosed to liver bilateral retinoblastoma.Item Third Nerve Palsy: An Overview.(2012-05) Chugh, J P; Jain, Prachi; Chouhan, R S; Rathi, AshokOculomotor nerve palsy may be congenital or acquired, complete or partial, pupil-sparing or pupil-involving, isolated or accompanied by signs of more extensive neurological involvement. Precise knowledge of its origin and course from nuclear level to terminal muscles along with accompanying clinical features helps in localizing the site of involvement and thus appropriate management. Associated symptoms are of extreme importance and patient should always be asked and assessed for headache, periocular or orbital pain.