Search Results - "Korula, Sophy"

Patient and caregiver perspectives of select non-communicable diseases in India: A scoping review by Nila, Sindhu, Dutta, Eliza, Prakash, S S, Korula, Sophy, Oommen, Anu Mary

“…Patient-reported measures of encounters in healthcare settings and consideration of their preferences could provide valuable inputs to improve healthcare…”
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Long-term outcomes following maximal safe resection in a contemporary series of childhood craniopharyngiomas by Sarkar, Sauradeep, Chacko, Shireen R., Korula, Sophy, Simon, Anna, Mathai, Sarah, Chacko, Geeta, Chacko, Ari George

“…Background The optimal management of pediatric craniopharyngiomas remains controversial. This study aimed to characterize long-term outcomes in a contemporary…”
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A treatable cause of neuroregression by Mercy, Accurate, Korula, Sophy

“…We report the case of a 13-month-old girl with neuroregression over 3 months and encephalopathy at presentation. Marked skin hyperpigmentation and being…”
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Metabolic Comorbidities in Pediatric Psoriasis-A Comparative Cross-Sectional Study in South-Asian Children by Joseph, Ranjana E, Sathishkumar, Dharshini, Gupta, Ankan, Korula, Sophy

“…There is only limited data on the association between psoriasis and metabolic comorbidities in South-Asian children. To examine metabolic comorbidities among…”
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Late onset multiple Acyl-CoA dehydrogenase deficiency: A rare treatable neurometabolic disorder by Korula, Sophy, Yoganathan, Sangeetha, Peter, Jeyanthi, Chandran, Mahalakshmi, Christudass, Chrithunesa, Danda, Sumita

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Genetic heterogeneity and challenges in the management of permanent neonatal diabetes mellitus: A single-centre study from South India by Korula, Sophy, Ravichandran, Lavanya, Paul, Praveen, Johnson, Jabasteen, Chapla, Aaron, Santhanam, Sridhar, Simon, Anna, Mathai, Sarah

“…Aim and Objectives: 1. To study the clinical outcome, growth and glycaemic control, 2. To study the frequency and type of genetic mutations. Methods: This is a…”
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Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia by Ravichandran, Lavanya, Varghese, Deny, R, Parthiban, S, Asha H., Korula, Sophy, Thomas, Nihal, Chapla, Aaron

“…Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes,…”
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Bone mineral density and serum bone turnover markers among post-menarchal girls from rural South India by Harriet, Gibeah, Korula, Sophy, Rebekah, Grace, Kapoor, Nitin, Cherian, Kripa, Jose, Arun, Mathai, Sarah, Paul, Thomas

“…Background: The data on the bone mineral density (BMD) and bone turnover markers (BTMs) in Indian adolescents are limited. Objectives: To assess BMD at lumbar…”
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Optimizing cord blood thyroid stimulating hormone cutoff for screening of congenital hypothyroidism-experience from screening 164,000 newborns in a tertiary hospital in India by Paul, Praveen, Rebekah, Grace, Korula, Sophy, Kumar, Manish, Bondu, Joseph, Palany, Raghupathy, Simon, Anna, Mathai, Sarah

“…Background and Objectives: In our institution, we have an ongoing newborn thyroid screening (NBS) program since July 2001. In the initial 9 months, we used…”
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Neonatal Cholestasis Syndrome: Aetiological Spectrum and Outcome Analysis- Single Center Study by Thomas, Ann Mary, Korula, Sophy, Thomas, Leenath, Sridhar, Santhanam, Mathai, John, Hephzibah, Julie

“…Introduction: Neonatal Cholestasis syndrome is a common condition among infants that needs to be evaluated in detail to establish aetiology. Although…”
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Youth-onset Type 2 Diabetes: An Overview of Pathophysiology, Prognosis, Prevention and Management by Titmuss, Angela, Korula, Sophy, Wicklow, Brandy, Nadeau, Kristen J.

“…Purpose of review: This review explores the emerging evidence regarding pathogenesis, future trajectories, treatment options, and phenotypes of youth-onset…”
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Upfront adjuvant irradiation versus postoperative surveillance following incomplete surgical resection of craniopharyngiomas in children and young adults by Sarkar, Sauradeep, Korula, Sophy, Mathai, Sarah, Simon, Anna, Balakrishnan, Rajesh, Backianathan, Selvamani, Chacko, Ari G.

“…Objective Incomplete surgical removal of craniopharyngiomas frequently results in suboptimal oncological control. Radiation therapy is usually offered in these…”
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Skin as a Window to Diagnose Inborn Errors of Metabolism by Somasundaram, Arun, Chiramel, Minu Jose, Sathishkumar, Dharshini, Korula, Sophy

“…Skin serves as a window to diagnose many systemic diseases, including inborn errors of metabolism (IEM). IEM occur due to disturbance in the metabolism of…”
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Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review by Yoganathan, Sangeetha, Bhasin, Himani, Garg, Divyani, Malik, Prateek, Saini, Arushi Gahlot, Chandran, Mahalakshmi, Korula, Sophy, Arunachal, Gautham, Danda, Sumita, Thomas, Maya, Oommen, Samuel Philip, Sharma, Suvasini

“…Hyperhomocysteinemia is a rare neurometabolic syndrome with diverse manifestations in the pediatric age group, thereby posing a diagnostic challenge…”
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Turner Syndrome and Craniopharyngioma by Korula, Sophy, Beryl, Shafini, Kamath, Vandana, Mathew, Sherin Susheel, Joseph, Vivek

“…Turner syndrome (TS) affects nearly 1 in 2000 live births (1) and craniopharyngioma, a benign brain tumor, has been reported to occur at an incidence of 1.3…”
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Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency by Joy, Praisy, Madhuri, Vrisha, Palocaren, Thomas, Das, Sweta, Susan Cleave Abraham, Suneetha, Korula, Sophy, Koshy, Beena, Jose, John, Chandran, Mahalakshmi, Danda, Sumita

“…AICA (5-aminoimidazole-4-carboxamide) ribosiduria is an inborn error in purine biosynthesis caused due to biallelic pathogenic variants in the…”
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Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation by Korula, Sophy, Chapla, Aaron, Priyambada, Leena, Mathai, Sarah, Simon, Anna

“…Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal…”
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A Comparison of Long-Term Treatment Outcomes Between Giant and Nongiant Craniopharyngiomas by Sarkar, Sauradeep, Chacko, Shireen R., Korula, Sophy, Hesarghatta, Asha, Balakrishnan, Rajesh, Mathai, Sarah, Simon, Anna, Chacko, Geeta, Prabhu, Krishna, Chacko, Ari G.

“…There is limited literature on outcomes after surgical treatment of giant craniopharyngiomas in adult and pediatric patients. A retrospective review of 159…”
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WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India by Chapla, Aaron, Johnson, Jabasteen, Korula, Sophy, Mohan, Nisha, Ahmed, Anish, Varghese, Deny, Rangasamy, Parthiban, Ravichandran, Lavanya, Jebasingh, Felix, Kumar Agrawal, Krishna, Somasundaram, Noel, Hesarghatta Shyamasunder, Asha, Mathai, Sarah, Simon, Anna, Jha, Sujeet, Chowdry, Subhankar, Venkatesan, Radha, Raghupathy, Palany, Thomas, Nihal

“…Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and…”
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Smartphone App as Motivational Intervention to Improve Glycemic Control in Adolescents with Type 1 Diabetes by Pramanik, Binay Kumar, Angelin, J. Jebashini, Mathai, Vineeth John, Mathai, Sarah, Korula, Sophy, Simon, Anna

“…Objectives Type 1 diabetes (T1D) adolescents often do not achieve good glycemic control. In the context of growing number of technologically savvy adolescents,…”
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