Search Results - "Giri, Dinesh"
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Artificial Intelligence Diagnosis of Parkinson's Disease From MRI Scans
Published in Curēus (Palo Alto, CA) (23-04-2024)“…Parkinson's disease (PD) is a prevalent neurodegenerative disorder characterized by motor symptoms such as tremors, rigidity, and bradykinesia, affecting…”
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Artificial Intelligence-Based Distinction of Actinic Keratosis and Seborrheic Keratosis
Published in Curēus (Palo Alto, CA) (21-04-2024)“…Actinic keratosis (AK) and seborrheic keratosis (SK) represent prevalent dermatological conditions with distinct clinical characteristics and potential health…”
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3
Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-05-2020)“…Background The hyperinsulinism/hyperammonaemia (HI/HA) syndrome is the second most common cause of hyperinsulinaemic hypoglycaemia, caused by activating…”
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4
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-05-2020)“…Background Congenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the…”
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5
Insights from the ACTION Teens Study: a survey of adolescents living with obesity, their caregivers and healthcare professionals in the UK
Published in BMJ open (23-07-2024)“…ObjectivesThe Awareness, Care and Treatment In Obesity maNagement (ACTION) Teens study explored attitudes, behaviours, perceptions and barriers regarding…”
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6
Treating vitamin D deficiency in children with type I diabetes could improve their glycaemic control
Published in BMC research notes (07-09-2017)“…The relationship between vitamin D deficiency and type I DM is an ongoing area of interest. The study aims to identify the prevalence of vitamin D deficiency…”
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Case report: Molecular characterisation of adipose-tissue derived cells from a patient with ROHHAD syndrome
Published in Frontiers in pediatrics (30-06-2023)“…There have been over 100 cases of Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome reported,…”
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8
Qualitative Parental Perceptions of a Paediatric Multidisciplinary Team Clinic for Prader-Willi Syndrome
Published in Journal of clinical research in pediatric endocrinology (01-12-2021)“…This preliminary review was conducted to inform the design of a new service to support families with children with Prader-Willi syndrome (PWS). Families were…”
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A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome
Published in Annals of pediatric endocrinology & metabolism (01-03-2017)“…Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in…”
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10
Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
Published in Endocrinology, diabetes & metabolism case reports (31-03-2017)“…Summary Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal…”
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Silent Crooke’s cell corticotroph adenoma of the pituitary gland presenting as delayed puberty
Published in Endocrinology, diabetes & metabolism case reports (31-03-2017)“…Summary Corticotroph adenomas are extremely rare in children and adolescents. We present a 15-year-old boy who was investigated for delayed puberty (A1P2G1,…”
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Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
Published in Case reports in genetics (01-01-2017)“…B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short…”
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A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
Published in Case reports in genetics (2018)“…Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We…”
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Phosgene oxime: Injury and associated mechanisms compared to vesicating agents sulfur mustard and lewisite
Published in Toxicology letters (01-09-2018)“…•Phosgene oxime (CX) is a nettle agent grouped together with vesicants.•CX is the most potent but least studied vesicating agent.•CX is absorbed quickly and…”
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Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities
Published in Human molecular genetics (15-11-2017)“…Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex…”
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Acanthosis Nigricans and Its Response to Metformin
Published in Pediatric dermatology (01-09-2017)“…Acanthosis nigricans (AN) is the most common cutaneous manifestation of insulin resistance (IR) and is commonly seen in non‐Caucasian populations. Variable…”
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Current understanding and management of paediatric diabetic ketoacidosis
Published in Paediatrics and child health (01-07-2023)“…Diabetic Ketoacidosis (DKA) is a serious complication of insulin deficiency. It is typically seen in children and young people with Type 1 Diabetes Mellitus,…”
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Complications of excess weight seen in two tier 3 paediatric weight management services: an observational study
Published in Archives of disease in childhood (30-10-2024)“…Children and young people living with severe obesity experience a range of complications of excess weight (CEW); however the prevalence of complications is not…”
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Nettle Agent Phosgene Oxime Toxicity and Related Mechanism from its Dermal Exposure
Published in The FASEB journal (01-04-2020)“…Abstract only Phosgene Oxime (dichloroform oxime; CX), an urticant or nettle agent categorized as a vesicant, is a potential chemical threat agent. Its…”
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The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies
Published in Brain sciences (23-10-2024)“…Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare syndrome presenting in early childhood…”
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