FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3097389359> ?p ?o ?g. }

• W3097389359 endingPage "216" @default.
• W3097389359 startingPage "207" @default.
• W3097389359 abstract "Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient with CS accompanied by a clinical picture of hyperinsulinemic hypoglycemia responsive to diazoxide treatment. A 41-day-old female patient with a birth weight of 3,600 g was referred for atypical facial features and swallowing dysfunction. She had a weight of 4,000 g (−0.8 SDS), a length of 50 cm (−2.4 SDS), and a head circumference of 38 cm (0.2 SDS). The clinical findings were suggestive of a genetic syndrome, mainly a RASopathy or Beckwith-Wiedemann syndrome. Whole exome sequencing revealed a de novo heterozygous missense variant in the <i>HRAS</i> (NM_001130442) gene in exon 2: c.35G&#x3e;C; p.(Gly12Ala), establishing the molecular diagnosis of CS. The patient developed symptomatic hypoglycemia (jitteriness and sweating) at the age of 13 months. The patient’s serum glucose was 38 mg/dL with simultaneous serum insulin and C-peptide levels, 2.8 μIU/mL and 1.8 ng/mL, respectively. Hyperinsulinism was suspected, and an exaggerated glucose response was detected in a glucagon test. Blood glucose monitoring indicated episodes of fasting hypoglycemia and postprandial hyperglycemia. Diazoxide of 10 mg/kg/day was initiated in 3 doses for hyperinsulinemic hypoglycemia, which resolved without new episodes of postprandial hyperglycemia. The patient deceased at the age of 17 months due to cardiorespiratory failure in the course of severe pneumonia complicated with pulmonary hypertension and hypertrophic cardiomyopathy. Several genetic syndromes including CS are associated with endocrinologic manifestations including abnormal glucose homeostasis. Although the frequency and underlying mechanisms leading to hyperinsulinemic hypoglycemia are yet unknown, hypoglycemia in CS responds well to diazoxide." @default.
• W3097389359 created "2020-11-09" @default.
• W3097389359 creator A5008596141 @default.
• W3097389359 creator A5009115217 @default.
• W3097389359 creator A5021050905 @default.
• W3097389359 creator A5022560466 @default.
• W3097389359 creator A5057182736 @default.
• W3097389359 creator A5065003665 @default.
• W3097389359 creator A5077968134 @default.
• W3097389359 date "2020-01-01" @default.
• W3097389359 modified "2023-10-09" @default.
• W3097389359 title "Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia" @default.
• W3097389359 cites W1497074842 @default.
• W3097389359 cites W1855520113 @default.
• W3097389359 cites W1984526102 @default.
• W3097389359 cites W1989981922 @default.
• W3097389359 cites W1991537665 @default.
• W3097389359 cites W2006496116 @default.
• W3097389359 cites W2006933224 @default.
• W3097389359 cites W2015467663 @default.
• W3097389359 cites W2018560092 @default.
• W3097389359 cites W2020277419 @default.
• W3097389359 cites W2031249786 @default.
• W3097389359 cites W2034665107 @default.
• W3097389359 cites W2036067580 @default.
• W3097389359 cites W2037216988 @default.
• W3097389359 cites W2038772247 @default.
• W3097389359 cites W2039620798 @default.
• W3097389359 cites W2039959823 @default.
• W3097389359 cites W2042500797 @default.
• W3097389359 cites W2044848915 @default.
• W3097389359 cites W2044961658 @default.
• W3097389359 cites W2052890344 @default.
• W3097389359 cites W2061393391 @default.
• W3097389359 cites W2078424922 @default.
• W3097389359 cites W2084504077 @default.
• W3097389359 cites W2087620623 @default.
• W3097389359 cites W2098945402 @default.
• W3097389359 cites W2104243709 @default.
• W3097389359 cites W2119880371 @default.
• W3097389359 cites W2122473049 @default.
• W3097389359 cites W2124216273 @default.
• W3097389359 cites W2124488429 @default.
• W3097389359 cites W2127590829 @default.
• W3097389359 cites W2158461104 @default.
• W3097389359 cites W2170733843 @default.
• W3097389359 cites W2180873628 @default.
• W3097389359 cites W2226410819 @default.
• W3097389359 cites W2346049396 @default.
• W3097389359 cites W2472913205 @default.
• W3097389359 cites W2509990009 @default.
• W3097389359 cites W2583262606 @default.
• W3097389359 cites W2763869285 @default.
• W3097389359 cites W2953365112 @default.
• W3097389359 cites W4230421038 @default.
• W3097389359 doi "https://doi.org/10.1159/000510171" @default.
• W3097389359 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7675225" @default.
• W3097389359 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33224014" @default.
• W3097389359 hasPublicationYear "2020" @default.
• W3097389359 type Work @default.
• W3097389359 sameAs 3097389359 @default.
• W3097389359 citedByCount "5" @default.
• W3097389359 countsByYear W30973893592022 @default.
• W3097389359 countsByYear W30973893592023 @default.
• W3097389359 crossrefType "journal-article" @default.
• W3097389359 hasAuthorship W3097389359A5008596141 @default.
• W3097389359 hasAuthorship W3097389359A5009115217 @default.
• W3097389359 hasAuthorship W3097389359A5021050905 @default.
• W3097389359 hasAuthorship W3097389359A5022560466 @default.
• W3097389359 hasAuthorship W3097389359A5057182736 @default.
• W3097389359 hasAuthorship W3097389359A5065003665 @default.
• W3097389359 hasAuthorship W3097389359A5077968134 @default.
• W3097389359 hasBestOaLocation W30973893591 @default.
• W3097389359 hasConcept C1167327 @default.
• W3097389359 hasConcept C121608353 @default.
• W3097389359 hasConcept C126322002 @default.
• W3097389359 hasConcept C134018914 @default.
• W3097389359 hasConcept C187212893 @default.
• W3097389359 hasConcept C2775858560 @default.
• W3097389359 hasConcept C2777368190 @default.
• W3097389359 hasConcept C2777391703 @default.
• W3097389359 hasConcept C2777986614 @default.
• W3097389359 hasConcept C2779234561 @default.
• W3097389359 hasConcept C2779306644 @default.
• W3097389359 hasConcept C2779434492 @default.
• W3097389359 hasConcept C2779872217 @default.
• W3097389359 hasConcept C2779944767 @default.
• W3097389359 hasConcept C2780668416 @default.
• W3097389359 hasConcept C2780988686 @default.
• W3097389359 hasConcept C2781187634 @default.
• W3097389359 hasConcept C46973012 @default.
• W3097389359 hasConcept C526805850 @default.
• W3097389359 hasConcept C54355233 @default.
• W3097389359 hasConcept C71924100 @default.
• W3097389359 hasConcept C86803240 @default.
• W3097389359 hasConcept C90924648 @default.
• W3097389359 hasConceptScore W3097389359C1167327 @default.
• W3097389359 hasConceptScore W3097389359C121608353 @default.

• next