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Revista Newslab Edição 179

Revista Newslab Edição 179 - Setembro 2023

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Referências Bibliográficas<br />

1. Arduino, Francisco. O diabetes ontem e hoje. In:<br />

. Diabetes Mellitus. Rio de Janeiro: Guanabara Koogan.<br />

1980. 414p.<br />

2. Eliaschewitz, Freddy Goldberg (Ed.Cient.). Do papiro<br />

Ebers à descoberta da insulina. Fotógrafo João<br />

Carlos Landi Guimarães. São Paulo: Pfizer, 2006. v.1.<br />

34 p. (A História do Diabetes, 1).<br />

3. Medvei, V.C.. A History of Endocrinology. Lancaster,<br />

England. 1984. 174,175p.<br />

4. BRASIL. Ministério da Saúde. Plano de ações<br />

estratégicas para o enfrentamento das doenças<br />

crônicas não transmissíveis (DCNT) no Brasil, 2011-<br />

2022. Brasília: Ministério da Saúde, 2011a. Disponível<br />

em: . Acesso em: 2 mar. 2017.<br />

5. Ministério da Saúde. Vigitel Brasil 2016: vigilância<br />

de fatores de risco e proteção para doenças crônicas<br />

por inquérito telefônico. Brasília, 2017.<br />

6. Fajans SS, Bell GI. MODY - History, Genetics, Pathophysiology,<br />

and Clinical Decision Making. Diabetes<br />

Care. 2011; 34.<br />

7. Bell GI, Xiang K, Newman MV et al. Gene for non-<br />

-insulin-dependent diabetes mellitus (maturity-<br />

-onset diabetes of the young subtype) is linked to<br />

DNA polymorphism on human chromosome 20q.<br />

Proceedings of the National Academy of Sciences<br />

USA. 1991; 88: 1484-1488.<br />

8. The British Diabetic Association operating as Diabetes<br />

UK. Diabetes. Disponível em: https://www.<br />

diabetes.org.uk/diabetes-the-basics/other-types-<br />

-of-diabetes/mody.<br />

9. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire<br />

M, Sun F, et al. Familial hyperglycemia due to mutations<br />

in glucokinase: definition of a subtype of<br />

diabetes mellitus. N Engl J Med 1993;328:697- 702.<br />

10. Danaei G, Finucane MM, Lu Y, et al., for the Global<br />

Burden of Metabolic Risk Factors of Chronic<br />

Diseases Collaborating Group (Blood Glucose).<br />

National, regional, and global trends in fasting<br />

plasma glucose and diabetes prevalence since<br />

1980: Systematic analysis of health examination<br />

surveys and epidemiological studies with 370<br />

country-years and 2.7 million participants. Lancet.<br />

2011;378:31-40.<br />

11. Thanabalasingham G, Owen KR. Diagnosis and<br />

management of maturity onset diabetes of the<br />

young (MODY). BMJ. 2011;343:d6044.<br />

12. Estalella I, Rica I, Perez de Nanclares G, et al. Mutations<br />

in GCK and HNF-1alpha explain the majority<br />

of cases with clinical diagnosis of MODY in Spain.<br />

Clin Endocrinol (Oxf). 2007;67:538-46.<br />

13. Byrne MM, Sturis J, Menzel S, et al. Altered insulin<br />

secretory responses to glucose in diabetic and<br />

nondiabetic subjects with mutations in the diabetes<br />

susceptibility gene MODY3 on chromosome 12.<br />

Diabetes. 1996;45:1503–1510.<br />

14. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations<br />

in the hepatocyte nuclear factor-1alpha gene in<br />

maturity-onset diabetes of the young (MODY3) Nature.<br />

1996;384:455–458.<br />

15. Colclough K, Bellanne-Chantelot C, Saint-Martin<br />

C, Flanagan SE, Ellard S. Mutations in the genes<br />

encoding the transcription factors hepatocyte nuclear<br />

factor 1 alpha and 4 alpha in maturity-onset<br />

diabetes of the young and hyperinsulinemic hypoglycemia.<br />

Hum Mutat. 2013;34:669–685.<br />

16. Vionnet N, Stoffel M, Takeda J, et al Nonsense<br />

mutation in the glucokinase gene causes early‐onset<br />

non‐insulin‐dependent diabetes mellitus. Nature<br />

1992; 356: 721–722.<br />

17. Shields BM, Hicks S, Shepherd MH, et al Maturity‐onset<br />

diabetes of the young (MODY): how<br />

many cases are we missing? Diabetologia 2010; 53:<br />

2504–2508.<br />

18. Ledermann HM. Is maturity onset diabetes at<br />

young age (MODY) more common in Europe than<br />

previously assumed? Lancet. 1995;345(8950):648.<br />

19. Thanabalasingham G, Owen KR. Diagnosis and<br />

management of maturity onset diabetes of the<br />

young (MODY) BMJ. 2011;343:d6044.<br />

20. Shields BM, Hicks S, Shepherd MH, Colclough K,<br />

Hattersley AT, Ellard S. Maturity-onset diabetes of<br />

the young (MODY): how many cases are we missing?<br />

Diabetologia. 2010;53(12):2504–2508.<br />

21. Colclough K, Saint-Martin C, Timsit J, Ellard S,<br />

Bellanne-Chantelot C. Clinical utility gene card for:<br />

Maturity-onset diabetes of the young. Eur J Hum<br />

Genet. 2014;22(9):E1–E6.<br />

22. Nyunt O, Wu JY, McGown IN, Harris M, Huynh T,<br />

Leong GM, Cowley DM, Cotterill AM. Investigating<br />

maturity onset diabetes of the young. Clin Biochem<br />

Rev. 2009;30:67–74.<br />

23. Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI,<br />

Zouali H, Lesage S, Velho G, Iris F, Passa P, Froguel<br />

Ph, Cohen D. Nonsense mutation in the glucokinase<br />

gene causes early-onset non-insulin- dependent<br />

diabetes mellitus. Nature. 1992;356:721–722.<br />

24. Byrne MM, Sturis J, Clément K, Vionnet N,<br />

Pueryo ME, Stoffel M, Takeda J, Passa P, Cohen D,<br />

Bell GI, et al. Insulin secretory abnormalities in subjects<br />

with hyperglycemia due to glucokinase mutations.<br />

J Clin Invest. 1994;93:1120–1130.<br />

25. Byrne MM, Sturis J, Clement K, et al. Insulin<br />

secretory abnormalities in subjects with hyperglycemia<br />

due to glucokinase mutations. J Clin Invest.<br />

1994;93:1120–1130.<br />

26. Naylor RN, Greeley SA, Bell GI, Philipson LH. Genetics<br />

and pathophysiology of neonatal diabetes<br />

mellitus. J Diabetes Investig. 2011;2:158-69.<br />

27. Pontoglio M. Hepatocyte nuclear factor 1, a<br />

transcription factor at the crossroads of glucose<br />

homeostasis. J Am Soc Nephrol. 2000;11 Suppl<br />

1(19):S140–3.<br />

28. Pontoglio M, Barra J, Hadchouel M, Doyen A,<br />

Kress C, Bach JP, et al. Hepatocyte Nuclear Factor<br />

1 Inactivation Results in Hepatic Dysfunction,<br />

Phenylketonuria, and Renal Fanconi Syndrome.<br />

Cell [Internet]. 1996;84(4):575–85. Available from:<br />

http://www.sciencedirect.com/science/article/pii/<br />

S0092867400810338<br />

29. Harries LW, Ellard S, Stride A, Morgan NG, Hattersley<br />

AT. Isomers of the TCF1 gene encoding hepatocyte<br />

nuclear factor-1 alpha show differential<br />

expression in the pancreas and define the relationship<br />

between mutation position and clinical<br />

phenotype in monogenic diabetes. Hum Mol Genet.<br />

2006;15(14):2216–2224. doi: 10.1093/hmg/ddl147.<br />

30. Pearson ER, Starkey BJ, Powell RJ, Gribble FM,<br />

Clark PM, Hattersley AT. Genetic cause of hyperglycaemia<br />

and response to treatment in diabetes.<br />

Lancet. 2003;362:1275-81.<br />

31. Bellanne-Chantelot C, Carette C, Riveline JP,<br />

et al. The type and the position of HNF1A mutation<br />

modulate age at diagnosis of diabetes in patients<br />

with maturity-onset diabetes of the young<br />

(MODY)- 3. Diabetes. 2008;57:503–508.<br />

32. Harries LW, Ellard S, Stride A, Morgan NG, Hattersley<br />

AT. Isomers of the TCF1 gene encoding<br />

hepatocyte nuclear factor-1 alpha show differential<br />

expression in the pancreas and define the relationship<br />

between mutation position and clinical<br />

phenotype in monogenic diabetes. Hum Mol Genet.<br />

2006;15:2216–2224.<br />

33. Harries LW, Locke JM, Shields B, et al. The diabetic<br />

phenotype in HNF4A mutation carriers is<br />

moderated by the expression of HNF4A isoforms<br />

from the P1 promoter during fetal development.<br />

Diabetes. 2008;57:1745–1752.<br />

34. Aas KK, Tambs K, Kise MS, Magnus P, Ronningen<br />

KS. Genetic testing of newborns for type 1 diabetes<br />

susceptibility: a prospective cohort study on effects<br />

on maternal mental health. BMC Med Genet.<br />

2010;11 112-2350-11-112<br />

35. Bell GI, Horita S, Karam JH. A polymorphic locus<br />

near the human insulin gene is associated with<br />

insulin-dependent diabetes mellitus. Diabetes.<br />

1984;33:176–183.<br />

36. Shields BM, Spyer G, Slingerland AS, et al. Mutations<br />

in the glucokinase gene of the fetus result<br />

in reduced placental weight. Diabetes Care.<br />

2008;31:753–757.<br />

37. Bacon S, Schmid J, McCarthy A, et al. The clinical<br />

management of hyperglycemia in pregnancy complicated<br />

by maturity-onset diabetes of the young.<br />

Am J Obstet Gynecol. 2015;213:236.e1– 236.e7.<br />

38. Pettitt DJ, Talton J, Dabelea D, Divers J, Imperatore<br />

G, Lawrence JM, Liese AD, Linder B, Mayer-Davis EJ,<br />

Pihoker C, Saydah SH, Standiford DA, Hamman RF SE-<br />

ARCH for Diabetes in Youth Study Group. Prevalence<br />

of diabetes in U.S. youth in 2009: the SEARCH for diabetes<br />

in youth study. Diabetes Care. 2014;37:402–408.<br />

39. McDonald TJ, Colclough K, Brown R, Shields B,<br />

Shepherd M, Bingley P, Williams A, Hattersley AT,<br />

Ellard S. Islet autoantibodies can discriminate maturity-onset<br />

diabetes of the young (MODY) from<br />

Type 1 diabetes. Diabet Med. 2011;28:1028–1033.<br />

40. Pearson ER, Flechtner I, Njolstad PR, et al. Switching<br />

from insulin to oral sulfonylureas in patients<br />

with diabetes due to Kir6.2 mutations. N Engl J<br />

Med. 2006 Aug 3;355(5):467–77.<br />

41. Shields BM, Hicks S, Shepherd MH, et al. Maturity-onset<br />

diabetes of the young (MODY): how<br />

many cases are we missing? Diabetologia. 2010<br />

Dec;53(12):2504–8.<br />

42. Weinreich SS, Bosma A, Henneman L, et al. A decade<br />

of molecular genetic testing for MODY: a retrospective<br />

study of utilization in The Netherlands.<br />

Eur J Hum Genet. 2015 Jan;23(1):29–33.<br />

43. Yorifuji T, Fujimaru R, Hosokawa Y, et al. Comprehensive<br />

molecular analysis of Japanese patients<br />

with pediatric-onset MODY-type diabetes mellitus.<br />

Pediatr Diabetes. 2012 Feb;13(1):26–32.<br />

44. Furuzawa GK, Giuffrida FM, Oliveira CS, et al.<br />

Low prevalence of MODY2 and MODY3 mutations<br />

in Brazilian individuals with clinical MODY phenotype.<br />

Diabetes Res Clin Pract. 2008 Sep;81(3):e12–4.<br />

45. Mota AJ, Bruggemann S, Costa FF. MODY 2:<br />

mutation identification and molecular ancestry in<br />

a Brazilian family. Gene. 2013 Jan 10;512(2):486–91.<br />

46. Weinert LS, Silveiro SP, Giuffrida FM, et al. Three<br />

unreported glucokinase (GCK) missense mutations<br />

detected in the screening of thirty-two Brazilian<br />

kindreds for GCK and HNF1A-MODY. Diabetes Res<br />

Clin Pract. 2014 Nov;106(2):e44–8.<br />

47. Bonnefond A, Philippe J, Durand E, et al. Highly<br />

sensitive diagnosis of 43 monogenic forms of<br />

diabetes or obesity through one-step PCR-based<br />

enrichment in combination with next-generation<br />

sequencing. Diabetes Care. 2014 Feb;37(2):460–7.<br />

48. Tattersall RB, Fajans SS. A difference between<br />

the inheritance of classical juvenile-onset and maturity-onset<br />

type diabetes of young people. Diabetes.<br />

1975;24(1):44–53.<br />

49. McDonald TJ, Ellard S. Maturity onset diabetes<br />

of the young: identification and diagnosis. Ann Clin<br />

Biochem. 2013;50(Pt 5):403–415.<br />

50. Stanik J, Dusatkova P, Cinek O, Valentinova L,<br />

Huckova M, Skopkova M, Dusatkova L, Stanikova<br />

D, Pura M, Klimes I. et al. De novo mutations of<br />

GCK, HNF1A and HNF4A may be more frequent<br />

in MODY than previously assumed. Diabetologia.<br />

2014;57(3):480–484.<br />

ARTIGO CIENTÍFICO I<br />

<strong>Revista</strong> NewsLab <strong>Edição</strong> <strong>179</strong> | Setembro 2023<br />

39

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