Senthil Senniappan
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View article: SAT-176 Pilot Data Collection From The New I-HH Registry For Surveillance Of Hypogonadotropic Hypogonadism, Implementation Of Best Practice Management And International Standardisation
SAT-176 Pilot Data Collection From The New I-HH Registry For Surveillance Of Hypogonadotropic Hypogonadism, Implementation Of Best Practice Management And International Standardisation Open
Disclosure: R.S. Varughese: None. M. Bonomi: None. G. Butler: None. T. Candler: None. T.J. Cole: None. M.T. Dattani: None. S. Heger: None. C. Jayasena: None. N. Krone: None. A. Nordenstrom: None. J. Rohayem: None. S. Senniappan: None. C. W…
View article: Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A National User-satisfaction Survey, UK
Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A National User-satisfaction Survey, UK Open
Context Congenital hyperinsulinism (CHI) causes severe and recurrent hypoglycemia with a 33% to 50% risk of neurodisability necessitating rigorous glucose monitoring. Continuous glucose monitoring (CGM) is now widely used in CHI with limit…
View article: Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network
Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network Open
Introduction Congenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children. …
View article: Study of regional habits influencing Pharyngeal Cancers – Tobacco in various forms with or without Alcohol
Study of regional habits influencing Pharyngeal Cancers – Tobacco in various forms with or without Alcohol Open
The present study was a case control study on pharyngeal cancers and the habits related to it which was carried out in our Dept of ENT, using 30 cases and 90 hospital based controls during a 2 years study period. The various habits of the …
View article: Evaluation of chronic otitis media using computed tomography of temporal bone
Evaluation of chronic otitis media using computed tomography of temporal bone Open
Introduction: Chronic otitis media is a inflammatory condition of middle ear, which is treated by appropriate surgery. Prior to surgery to evaluate extent of disease, complications and anatomical variation is essential. Our study is to det…
View article: A Comprehensive Study on Etiopathogenesis of Oral Mucosal Lesions
A Comprehensive Study on Etiopathogenesis of Oral Mucosal Lesions Open
View article: Continuous Glucose Monitoring–Derived Glycemic Phenotyping of Childhood Hypoglycemia Due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study
Continuous Glucose Monitoring–Derived Glycemic Phenotyping of Childhood Hypoglycemia Due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study Open
Background: The glycemic characterization of congenital hyperinsulinism (HI), a rare disease causing severe hypoglycemia in childhood, is incomplete. Continuous glucose monitoring (CGM) offers deep glycemic phenotyping to understand diseas…
View article: Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity
Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity Open
We report, for the first time, the role of CGM in identifying glycaemic dysregulation in children and young people with obesity before and after liraglutide treatment. The results have shown significant potential for liraglutide treatment …
View article: Insights from the ACTION Teens Study: a survey of adolescents living with obesity, their caregivers and healthcare professionals in the UK
Insights from the ACTION Teens Study: a survey of adolescents living with obesity, their caregivers and healthcare professionals in the UK Open
Objectives The Awareness, Care and Treatment In Obesity maNagement (ACTION) Teens study explored attitudes, behaviours, perceptions and barriers regarding effective obesity care among adolescents living with obesity (ALwO), caregivers and …
View article: Evaluation of the etiology and outcome of hypoglycemia in young children – A challenging task
Evaluation of the etiology and outcome of hypoglycemia in young children – A challenging task Open
View article: Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus
Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus Open
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion. CHI is of heterogeneous aetiology with a significant genetic …
View article: The hypoglycaemia error grid: A UK-wide consensus on CGM accuracy assessment in hyperinsulinism
The hypoglycaemia error grid: A UK-wide consensus on CGM accuracy assessment in hyperinsulinism Open
Objective Continuous Glucose Monitoring (CGM) is gaining in popularity for patients with paediatric hypoglycaemia disorders such as Congenital Hyperinsulinism (CHI), but no standard measures of accuracy or associated clinical risk are avai…
View article: 45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity
45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity Open
Summary A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degre…
View article: Klinefelter syndrome: going beyond the diagnosis
Klinefelter syndrome: going beyond the diagnosis Open
Although Klinefelter syndrome (KS) is common, it is rarely recognised in childhood, sometimes being identified with speech or developmental delay or incidental antenatal diagnosis. The only regular feature is testicular dysfunction. Postna…
View article: Insight into hypoglycemia frequency in congenital hyperinsulinism: evaluation of a large UK CGM dataset
Insight into hypoglycemia frequency in congenital hyperinsulinism: evaluation of a large UK CGM dataset Open
Introduction Hypoglycemia is often recurrent and severe in patients with congenital hyperinsulinism (CHI). However, there is little information regarding frequency or patterns of episodes to inform clinical management and future trial desi…
View article: Baseline and Peak Cortisol Response to the Low-Dose Short Synacthen Test Relates to Indication for Testing, Age, and Sex
Baseline and Peak Cortisol Response to the Low-Dose Short Synacthen Test Relates to Indication for Testing, Age, and Sex Open
Context Meta-analyses report that the low dose short Synacthen test (LDSST) is more sensitive but less specific than the standard dose test for the diagnosis of adrenal insufficiency, and there are concerns regarding the accuracy of dosing…
View article: Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective
Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective Open
Context In focal congenital hyperinsulinism (CHI), localized clonal expansion of pancreatic β-cells causes excess insulin secretion and severe hypoglycemia. Surgery is curative, but not all lesions are amenable to surgery. Objective We des…
View article: Childhood obesity: A review of current and future management options
Childhood obesity: A review of current and future management options Open
Obesity is becoming increasingly prevalent in paediatric populations worldwide. In addition to increasing prevalence, the severity of obesity is also continuing to rise. Taken together, these findings demonstrate a worrying trend and highl…
View article: 1732 The experiences and perceptions of children and young people with obesity participating in virtual exercise sessions
1732 The experiences and perceptions of children and young people with obesity participating in virtual exercise sessions Open
Background Childhood obesity is a major public health concern. The causes of obesity within the paediatric population are multifaced, contributing to its complex management approach. Most children do not meet the recommended guideline of 6…
View article: Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation: A Case Report
Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation: A Case Report Open
Introduction: The art of medicine glorifies when a clinician listens carefully to the patient’s story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An…
View article: An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy
An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy Open
Background The use of technology to support health and health care has grown rapidly in the last decade across all ages and medical specialties. Newly developed eHealth tools are being implemented in long-term management of growth failure …
View article: An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy (Preprint)
An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy (Preprint) Open
BACKGROUND The use of technology to support health and health care has grown rapidly in the last decade across all ages and medical specialties. Newly developed eHealth tools are being implemented in long-term management of growth failure…
View article: The Efficacy of Denosumab in the Management of a Tibial Paediatric Aneurysmal Bone Cyst Compromised by Rebound Hypercalcaemia
The Efficacy of Denosumab in the Management of a Tibial Paediatric Aneurysmal Bone Cyst Compromised by Rebound Hypercalcaemia Open
Surgery is the main treatment option for patients with aneurysmal bone cyst (ABC). We report our experience of using denosumab as an alternative treatment in a child with a multiply recurrent and unresectable tibial ABC. The efficacy and s…
View article: Effect of Growth Hormone Therapy in Patients with Noonan Syndrome: A Retrospective Study
Effect of Growth Hormone Therapy in Patients with Noonan Syndrome: A Retrospective Study Open
Background: Noonan syndrome is an autosomal dominant condition with an incidence of 1:1000 to 1:2500. The disorder is associated with distinct dysmorphic features, cardiac anomalies, developmental delay and delayed puberty. Short stature i…
View article: Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis
Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis Open
Background . Deficiency of 11 β -hydroxylase is the second most common cause of congenital adrenal hyperplasia (CAH), presenting with hypertension, hypokalaemia, precocious puberty, and adrenal insufficiency. We report the case of a 6-year…
View article: Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome Open
Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with t…
View article: Issue Information
Issue Information Open
View article: On X-linked hypophosphatemia at the European society of pediatric endocrinology meeting, Vienna, Austria; september 19–21, 2019
On X-linked hypophosphatemia at the European society of pediatric endocrinology meeting, Vienna, Austria; september 19–21, 2019 Open
X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets. Phosphate wasting results in weak, soft and deformed bones, impaired growth, and affected mobility. It is mainly caused by a loss of function mu…
View article: Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389 Open
Congenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are important as they …
View article: Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series Open
Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been describe…