Browsing by Author "Dalal, Ashwin"
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Item Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children(Indian Academy of Pediatrics, 2019-12) Narayanan, Dhanya Lakshmi; Ranganath, Prajnya; Aggarwal, Shagun; Dalal, Ashwin; Phadke, Shubha R; Mandal, KaushikObjective: To assess the utility of computer-aided facial analysis in identifying dysmorphicsyndromes in Indian children. Methods: Fifty-one patients with a definite molecular orcytogenetic diagnosis and recognizable facial dysmorphism were enrolled in the study andtheir facial photographs were uploaded in the Face2Gene software. The results provided bythe software were compared with the molecular diagnosis. Results: Of the 51 patients, thesoftware predicted the correct diagnosis in 37 patients (72.5%); predicted as the first in thetop ten suggestions in 26 (70.2%). In 14 patients, the software did not suggest a correctdiagnosis. Conclusions: Computer-aided facial analysis is a method that can aid indiagnosis of genetic syndromes in Indian children. As more clinicians start to use thissoftware, its accuracy is expected to improve.Item Dental stem cells: Hope or hype.(2016-03) Dalal, AshwinItem Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics(Indian Academy of Pediatrics, 2018-02) Puri, Ratna Dua; Kapoor, Seema; Kishnani, Priya S; Dalal, Ashwin; Gupta, Neerja; Muranjan, Mamta; Phadke, Shubha R; Sachdeva, Anupam; Verma, Ishwar C; K, PramodJustification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinicalmanifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD haspaucity of information and optimal management guidelines for Indian patients.Process: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invitedexperts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed andthe draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016at the annual meeting of the Indian Academy of Medical Genetics.Objectives: These guidelines are intended to serve as a standard framework for treating physicians and the health care systems foroptimal management of Gaucher disease in India and to define unique needs of this patient population.Recommendations: Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequentlyexperience diagnostic delays during which severe irreversible complications occur. Leucocyte acid ?-glucosidase activity ismandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathicdisease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved byearly initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such asseizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein arefor diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrenceof the disease through genetic counseling and prenatal diagnosis is essential in India, due to uniformly severe phenotypes encounteredin our populationItem Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.(2015-08) Dalal, Ashwin; Bhowmik, Aneek D; Agarwa, Divyal; Phadke, Shubha RItem Immunization status of children in Goa.(2005-04-07) Dalal, Ashwin; Silveira, M PItem Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need(Indian Academy of Pediatrics, 2022-03) Puri, Ratna Dua; Dalal, Ashwin; Moirangthem, AmitaGenomics is an integral part of many pediatric diseases spanning all sub-specialities. While many genetic disorders are diagnosed with the currently available genomic tests, there still are many patients who do not receive a definitive diagnosis. The Indian Undiagnosed Diseases Program is a multicenter effort to address these challenges and unmet needs of rare disease patients where current available genetic tests have failed to make a diagnosis. It embodies the principles of collaborative effort across multispecialty disciplines, and uses detailed phenotype. Diagnostic methods are tailored to patient specifics and the large genomic data is interrogated with precise, in-house bioinformatics pipelines using patient-specific phenotype to build the diagnostic algorithm. The inception of this research initiative in India is a step towards creating awareness and appreciation of the needs for our undiagnosed cohorts to enable appropriate management in this era of precision medicine.Item Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders(Wolters Kluwer – Medknow, 2023-06) Vanaja, Maria Celestina; Jain, Jamal Mohammed Nurul; Dalal, Ashwin; Ranganath, PrajnyaBackground & objectives: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not available or not feasible to perform, and for the identification of the disease causing genetic variants. The aim of this study was to develop a cost-effective, readily customizable and scalable molecular genetic testing strategy for LSDs. Methods: A testing method was designed based on the in-house creation of selective amplicons through long range PCR amplification for targeted capture and enrichment of different LSD genes of interest, followed by next generation sequencing of pooled samples. Results: In the first phase of the study, standardization and validation of the study protocol were done using 28 samples of affected probands and/or carrier parents (group A) with previously identified variants in seven genes, and in the second phase of the study, 30 samples of enzymatically confirmed or biopsy-proven patients with LSDs and/or their carrier parents who had not undergone any prior mutation analysis (group B) were tested and the sequence variants identified in them through the study method were validated by targeted Sanger sequencing. Interpretation & conclusions: This testing approach was found to be reliable, easily customizable and cost-effective for the molecular genetic evaluation of LSDs. The same strategy may be applicable, especially in resource poor settings, for developing cost-effective multigene panel tests for other conditions with genetic heterogeneity.Item Partial Monosomy 7q.(2011-05) Ponnala, Rajitha; Dalal, AshwinWe report a case of partial monosomy 7q and partial trisomy 14q in a 4 year old male with microcephaly, prominent eyes, arched eyebrows, malformed ears and overlapping of toes. The unbalanced rearrangement resulted in monosomy of 7q33qter and trisomy of 14q32.2qter. The clinical phenotype was similar to the other cases of 7q deletion.Item Role of calcium &/or vitamin D supplementation in preventing osteoporotic fracture in the elderly: A systematic review & meta-analysis(Wolters Kluwer – Medknow, 2023-01) Vanaja, Maria Celestina; Jain, Jamal Mohammed Nurul; Dalal, Ashwin; Ranganath, PrajnyaBackground & objectives: Calcium and vitamin D, separately or in combination are usually prescribed to prevent fragility fractures in elderly population. However, there are conflicting results regarding the ideal dosage and overall efficacy obtained from randomized controlled trials (RCTs) conducted in the past. The objective of this study was to assess the fracture risk with the administration of calcium or vitamin D alone or in combination in elderly population (>60 yr). Methods: PubMed, Cochrane and Embase databases were searched to identify the studies from inception to February 2021 with keywords, ‘vitamin D’, ‘calcium’ and ‘fracture’ to identify RCTs. The trials with comparing vitamin D, calcium or combination with either no medication or placebo were included for final analyses. The data were extracted and the study quality was assessed by two reviewers. The principal outcome measure was fractures around hip joint and secondary outcomes assessed were vertebral and any other fracture. Results: Eighteen RCTs were considered for the final analysis. Neither calcium nor vitamin D supplementation was associated with risk of fractures around hip joint [risk ratio (RR) 1.56; 95% confidence interval (CI), 0.91 to 2.69, I2=28%; P=0.11]. In addition, the combined administration of calcium and vitamin D was also not associated with fractures around the hip joint in comparison to either no treatment or placebo. The incidence of vertebral (RR 0.95; 95% CI, 0.82 to 1.10, I2=0%; P=0.49) or any other fracture (RR 0.83; 95% CI 0.65 to 1.06, I2=0%; P=0.14) was not significantly associated with the administration of calcium and vitamin D either individually or in combination. Further subgroup analysis of the results did not vary with the dosage of calcium or vitamin D, dietary calcium intake sex, or serum 25-hydroxyvitamin D levels. Interpretation & conclusions: The present meta-analysis of RCTs on calcium, vitamin D or a combination of the two in comparison to no treatment or placebo did not support the routine administration protocol of calcium and vitamin D either alone or in combination to lower the risk of fractures in elderly population.Item Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.(2012-01) Verma, Prashant K; Dalal, Ashwin; Mittal, Balraj; Phadke, Shubha RCONTEXT: Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders. AIM: To study the utility of MLPA in diagnosis and carrier detection for DMD. MATERIALS AND METHODS: Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared. RESULTS AND CONCLUSIONS: We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.