Temas Médicos Arquivo Maio de 2019 no Blog Internet Médica

– Relação dos temas médicos online disponíveis em maio 2019 (List of online medical topics available in May 2019)

– Acesso gratuito, não requer cadastro (free access, no registration required)

Arquivo maio 2019

Status Epilepticus Online (Status Epilepticus)

 

■  Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Estratificação de Risco Cardiovascular

Novo endereço:

Consultório: Rua Padre Rolim 815/sala 815

Tel: 33245518 (Consulta Particular/Unimed)

– Centro Médico Unimed BH/Contagem/Pedro I

Belo Horizonte/MG/Brasil

CRMMG: 7026

Email: pfleite1873@gmail.com

Síndrome de Costello Online (Costello syndrome)

¨A síndrome de Costello (SC) é uma doença genética rara, descrita pela primeira em 1971, causada por mutações no proto-oncogene HRAS. Os achados clínicos incluem dismorfismo facial, distúrbios da pele, comprometimento cognitivo, defeitos cardíacos e musculoesqueléticos. Há um risco aumentado de malignidades nesses pacientes, especialmente rabdomiossarcoma, ganglioneuroblastoma e tumores de bexiga, devido à mutação proto-oncogênica, e também a morte súbita secundária a doenças cardíacas. A pesquisa da mutação por técnicas de biologia molecular é o padrão ouro para o diagnóstico da síndrome de Costello.¨

 

Age and ASD symptoms in Costello syndrome

Young O, Perati S, Weiss LA, Rauen KA.

Am J Med Genet A. 2018 Apr;176(4):1027-1028

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011828/

 

Costello syndrome: the challenge of hypoglycemia and failure to thrive

Leoni C, Flex E.

EBioMedicine. 2018 Jan;27:5-6

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828550/

 

Cytotoxicity of zardaverine in embryonal rhabdomyosarcoma from a Costello syndrome patient

Cartledge DM, Robbins KM, Drake KM, et al

Front Oncol. 2017 Apr 3;7:42

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376947/

 

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

Schwartz DD, Katzenstein JM, Highley EJ et a

Am J Med Genet A. 2017 May;173(5):1294-1300

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397350/

 

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

Bertola D, Buscarilli M, Stabley DL, Baker L, et al

Am J Med Genet A. 2017 May;173(5):1309-1318

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353/

 

Costello syndrome and umbilical ligament rhabdomyosarcoma in two pediatric patients: case reports and review of the literature

Sánchez-Montenegro C, Vilanova-Sánchez A, Barrena-Delfa S, et al

Case Rep Genet. 2017;2017:1587610

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288506/

 

The splicing efficiency of activating HRAS mutations can determine Costello syndrome phenotype and frequency in cancer

Hartung AM, Swensen J, Uriz IE, et al

PLoS Genet. 2016 May 19;12(5):e1006039

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873146/

 

Anaesthetic management in Costello syndrome

Akçıl EF, Dilmen ÖK, Tunalı Y

Turk J Anaesthesiol Reanim. 2015 Dec;43(6):427-30

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894188/

 

Respiratory system involvement in Costello syndrome

Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L.

Am J Med Genet A. 2016 Jul;170(7):1849-57

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509842/

 

Síndrome de Costello: relato de caso e revisão da abordagem diagnóstica

A P R Pereira, S T F Grunewald

Residência Pediátrica 2016, vol 6 (3)

http://residenciapediatrica.com.br/detalhes/247/sindrome-de-costello–relato-de-caso-e-revisao-da-abordagem-diagnostica

 

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of hererozygosity in Costello syndrome driving clonal expansion

Karen W. Gripp, Katherine M. Robbins, Brandon S. Sheffield et a

Am J Med Genet A. 2016 Mar; 170(3): 559–56

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784973/

 

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation

Blachowska E, Petriczko E, Horodnicka-Józwa A et al

Ital J Pediatr. 2016 Jan 26;42:10

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729164/

 

Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome

Uemura R, Tachibana D, Kurihara Y et al

Ultrasound Obstet Gynecol. 2016 Dec;48(6):799-80

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.15888

 

Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome

Rooney GE, Goodwin AF, Depeille P et al

J Neurosci. 2016 Jan 6;36(1):142-52

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701956/

 

Costello syndrome: analysis of the porterior cranial fossa in children with posterior fossa crowding

Calandrelli R, D’Apolito G, Marco P, Zampino G, Tartaglione T, Colosimo C.

Neuroradiol J. 2015 Jun;28(3):254-8

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757298/

 

The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model

García-Cruz R, Camats M, Calin GA,  et al

BMC Med Genet. 2015 Jul 3;16:46

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631104/

 

Na attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G> (p.Gly60Asp) mutation correlates with uncommon functional consequences

Gripp KW, Sol-Church K, Smpokou P et al

Am J Med Genet A. 2015 Sep;167A(9):2085-9

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830354/

 

Costello syndrome with severe nodulocystic acne: unexpected significant improvement of achathosis nigricans after oral isotretinoin treatment

Sriboonnark L, Arora H, Falto-Aizpurua L et a

Case Rep Pediatr. 2015;2015:934865

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359863/

 

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Kratz CP, Franke L, Peters H, Kohlschmidt N, et al

Br J Cancer. 2015 Apr 14;112(8):1392-7

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402457/

 

Cardiac events in Costello syndrome: one case and a review of the literature

Hakim K, Boussaada R, Hamdi I, Msaad H.

J Saudi Heart Assoc. 2014 Apr;26(2):105-9

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978860/

 

Craniofacial and dental development in Costello syndrome

Goodwin AF, Oberoi S, Landan M et al

Am J Med Genet A. 2014 Jun;164A(6):1425-30

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115793/

 

Syndrome in question. Costelo syndrome

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB.

An Bras Dermatol. 2014 Nov-Dec;89(6):1005-6

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230678/

 

Early-lethal syndrome due to rare HRAS Tanden Base susbstitution (c.35_36C>AA;p.G12E)-associated pulmonary vascular disease

Weaver KN, Wang D, Cnota J, et al

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):421-3

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294968/

 

Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome

Wey M, Lee J, Jeong SS, Kim J, Heo J.

Biochemistry. 2013 Nov 26;52(47):8465-79.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918454/

 

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome

Michael Klüppel, Payman Samavarchi-Tehrani, Kela Liu et al

Eur J Hum Genet. 2012 Aug; 20(8): 870–877

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400726/

 

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

Angela E. Lin, Barbara O’Brien, Laurie A. Demmer et al

Prenat Diagn. 2009 Jul; 29(7): 682–69

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293073/

 

■  Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Estratificação de Risco Cardiovascular

Novo endereço:

Consultório: Rua Padre Rolim 815/sala 815

Tel: 33245518 (Consulta Particular/Unimed)

– Centro Médico Unimed BH/Contagem/Pedro I

Belo Horizonte/MG/Brasil

CRMMG: 7026

Email: pfleite1873@gmail.com