Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India
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DOI: 10.1007/s13312-017-1049-7
Abstract: ObjectiveTo study the genetic mutations and clinical profile in children with neonatal diabetes mellitusMethodsGenetic evaluation, clinical management and follow-up of infants with neonatal diabetesResultsEleven infants were studied of which eight had permanent neonatal diabetes. Median… read more here.
Keywords: clinical molecular; molecular characterization; characterization children; diabetes mellitus ... See more keywords
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes.
Sign Up to like & getrecommendations! Published in 2018 at "Canadian journal of diabetes"
DOI: 10.1016/j.jcjd.2017.06.009
Abstract: OBJECTIVE Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. WRS is caused by biallelic mutations in the… read more here.
Keywords: wolcott rallison; clinical genetic; neonatal diabetes; rallison syndrome ... See more keywords
New insights into KATP channel gene mutations and neonatal diabetes mellitus
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DOI: 10.1038/s41574-020-0351-y
Abstract: The ATP-sensitive potassium channel (KATP channel) couples blood levels of glucose to insulin secretion from pancreatic β-cells. KATP channel closure triggers a cascade of events that results in insulin release. Metabolically generated changes in the… read more here.
Keywords: katp channel; genes encoding; diabetes mellitus; mutations genes ... See more keywords
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
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DOI: 10.1055/s-0038-1636427
Abstract: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to… read more here.
Keywords: insulin; abcc8 mutation; diabetes mellitus; preterm infant ... See more keywords
Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Genetics"
DOI: 10.1055/s-0043-57005
Abstract: Abstract Wolcott–Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients with consanguineous parents.… read more here.
Keywords: wolcott rallison; rallison syndrome; epiphyseal dysplasia; dysplasia ... See more keywords
Cohort Profile: The Pregnancy and Neonatal Diabetes Outcomes in Remote Australia (PANDORA) Study.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of epidemiology"
DOI: 10.1093/ije/dyy046
Abstract: I-Lynn Lee, Brydie Purbrick, Federica Barzi, Alex Brown, Christine Connors, Cherie Whitbread ... et al. read more here.
Keywords: profile pregnancy; diabetes outcomes; pregnancy neonatal; outcomes remote ... See more keywords
Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000000147
Abstract: was 11.3 mmol/L and his HbA1c was 8.2% at 14 years To the Editor: Neonatal diabetes mellitus (NDM) is defined as diabetes diagnosed within 6 months after birth old. We conducted a 2h-oral glucose tolerance… read more here.
Keywords: successfully treated; tndm; relapsed 6q24; 6q24 related ... See more keywords
Neuropsychological impairments in children with KCNJ11 neonatal diabetes
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DOI: 10.1111/dme.13375
Abstract: We support the findings of Carmody et al. [1], who offered new insights into the neurological phenotype of people with KCNJ11 neonatal diabetes. Neurological features result from the KATP channel affected by these mutations being expressed… read more here.
Keywords: developmental delay; kcnj11 neonatal; neuropsychological impairments; children kcnj11 ... See more keywords
Neonatal diabetes caused by disrupted pancreatic and β‐cell development
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DOI: 10.1111/dme.14728
Abstract: Neonatal diabetes is diagnosed before the age of 6 months and is usually caused by single‐gene mutations. More than 30 genetic causes of neonatal diabetes have been described to date, resulting in severely reduced β‐cell… read more here.
Keywords: diabetes caused; cell; caused disrupted; cell development ... See more keywords
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro‐intestinal syndrome
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DOI: 10.1111/pedi.12576
Abstract: Neonatal diabetes mellitus (NDM) is a rare form of non‐autoimmune diabetes usually diagnosed in the first 6 months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable severity.… read more here.
Keywords: mutation neonatal; mutation; novel neurog3; diabetes associated ... See more keywords
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1
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DOI: 10.1111/pedi.12669
Abstract: The basic helix‐loop‐helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult‐onset non‐insulin‐dependent diabetes mellitus (NIDDM)… read more here.
Keywords: neurological abnormalities; missense mutation; diabetes mellitus; neonatal diabetes ... See more keywords