Blog - INTERNET MÉDICA

■ Italian Association of Clinical Endocrinologists (AME) and Italian Chapter of the American Association of Clinical Endocrinologists (AACE) Position Statement: Clinical Management of Vitamin D Deficiency in Adults

Roberto Cesareo, Roberto Attanasio, Marco Caputo et al

on behalf of AME and Italian AACE Chapter

Nutrients. 2018, vol 10(5): 546.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986426/

■ Rationale and plan for vitamin D food fortification: a review and guidance paper

Stefan Pilz, Winfried März, Kevin D. Cashman et al

Front Endocrinol (Lausanne) 2018; vol 9: 373

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056629/

■ Vitamin D genomics: from in vitro to in vivo

Carsten Carlberg

Front Endocrinol (Lausanne) 2018; 9: 250

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974042/

■ Quality assessment of systematic of vitamin D, cognition and dementia

Fariba Aghajafari, Dimity Pond, Nigel Catzikiris, Ian Cameron

BJPsych Open. 2018 , vol 4(4): 238–249

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060489/

■ Is sunlight exposure enough to avoid wintertime vitamin D deficiency in United Kingdom populations groups?

Richard Kift, Lesley E. Rhodes, Mark D. Farrar, Ann R. Webb

Int J Environ Res Public Health. 2018 Aug; 15(8): 1624

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121420/

■ Optimizing calcium and vitamin D intake through diet and supplements

H P Kilim, H Rosen

Cleveland Clinic Journal of Medicine 2018, vol 85 (7): 543-550

https://www.mdedge.com/ccjm/article/168831/endocrinology/optimizing-calcium-and-vitamin-d-intake-through-diet-and

■ El rol de la vitamina D en la prevención de caídas en sujetos con sarcopenia

Fuentes-Barría, Héctor, Aguilera-Eguia, Raúl and González-Wong, Catalina

Rev. chil. nutr., Set 2018, vol.45, no.3, p.279-284

https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0717-75182018000400279&lng=es&nrm=iso

■ The biological activities of vitamin D and its receptor in relation to calcium and bone homeostasis, cancer, immune and cardiovascular systems, skin biology, and oral health

A. G. Khammissa, J. Fourie, M. H. Motswaledi et al

Biomed Res Int. 2018; 2018: 9276380

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987305/

■ Vitamin D in pediatric age: consensus of the Italian Pediatric Society and the Italian Society of Preventive and Social Pediatrics, jointly with the Italian Federation of Pediatricians

Giuseppe Saggese, Francesco Vierucci, Flavia Prodam et al

Ital J Pediatr. 2018; vol 44: 5

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941617/

■ Vitamin D and juvenile idiopathic arthritis

Sarah L. Finch, Alan M. Rosenberg, Hassan Vatanparast

Pediatr Rheumatol Online J. 2018; 16: 34

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956785/

■ Nordic walking training causes a decrease in blood cholesterol in elderly women supplemented with vitamin D

Krzysztof Prusik, Jakub Kortas, Katarzyna Prusik et al

Front Endocrinol (Lausanne) 2018; 9: 42

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826219/

■ Vitamin D supplementation guidelines for general population and groups at risk of vitamin D deficiency in Poland – Recommendations of the Polish Society of Pediatric Endocrinology and Diabetes and the Expert Panel with participation of Nationa Specialists Consultants and Representatives of Scientific Societies – 2018 Update

Agnieszka Rusińska, Paweł Płudowski, Mieczysław Walczak et al

Front Endocrinol (Lausanne) 2018; 9: 246

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990871/

■ The role of vitamin D in fertility and during pregnancy and lactation: a review of clinical data

Stefan Pilz, Armin Zittermann, Rima Obeid, et al

Int J Environ Res Public Health. 2018, vol 15(10): 2241

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210343/

■ Health risks of hypovitaminosis D: a review of new molecular insights

Daniela Caccamo, Sergio Ricca, Monica Currò, Riccardo Ientile

Int J Mol Sci. 2018, vol 19(3): 892

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877753/

by Dr Paulo Fernando Leite

■ Cardiologia/Prevenção Cardiovascular

■ Estratificação de Risco Cardiovascular

Av Contorno 8351 – Conj 01

Belo Horizonte/MG/Brasil

Tel: 31 32919216 2917003 3357229

(- consulta particular –)

CRMMG: 7026

Email: pfleite1873@gmail.com

Síndrome de Holt-Oram Online (Holt-Oram Syndrome)

Por Paulo Leite 23/11/2018

¨A síndrome de Holt-Oram (HOS) é uma desordem monogênica rara caracterizada por anormalidades nos membros superiores, defeitos cardíacos congênitos e / ou anormalidades de condução. É determinado por mutações do gene TBX5 e é herdado de maneira autossômica dominante. A penetrância é completa, mas a expressividade variável está presente, o que dá, por vezes, dificuldades de diagnóstico. Para o diagnóstico desta síndrome as alterações esqueléticas características devem estar presentes e, em seguida, a condição cardíaca será demonstrado no mesmo indivíduo ou seus progenitores, mostrando evidências de genética transmissão. Anomalias esqueléticas são descritas nas extremidades superiores de 100% dos afetados, mais frequentemente com os polegares. O sistema cardiovascular é acometido em 75% dos diagnosticados, o mais característico é a comunicação interatrial. Sabe-se a ausência de correlação entre a gravidade das lesões ósseas e cardíacas, bem como a heterogeneidade nos familiares afetados. O tratamento depende dos sintomas específicos. Os defeitos nos membros superiores podem ser tratados com cirurgias corretivas ou reconstrutivas ou próteses artificiais. Em pacientes com defeitos leves de condução cardíaca, nenhum tratamento é necessário. Paciente com defeitos graves de condução cardíaca pode necessitar de marcapasso. As anormalidades estruturais do coração até certo ponto podem corrigir-se com cirurgias ou cateteres.¨

■ Electrical disorders in atrial septal defect: genetics and heritability

H Aoki, M Horie

Journal of Thoracic Disease 2018, vol 10, suppl 24

http://jtd.amegroups.com/article/view/19866/html

■ Holt-Oram syndrome: a rare variant

B Shankar, E Bhutia, D Kumar et al

Iran J Med Sci 2017, vol 42 (4): 416-419

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523052/

■ Holt-Oram syndrome: anesthesic challenge and safe outcome

M Rana, S L Solanki, V Agarwal et al

Ann Card Anaesth 2017, vol 20: 110-111

http://www.annals.in/article.asp?issn=0971-9784;year=2017;volume=20;issue=1;spage=110;epage=111;aulast=Rana

https://www.jcdronline.org/sites/default/files/10.5530jcdr.2016.1.11_0.pdf

■ Holt-Oram syndrome associated with aortic atresia: a rare association

S B Rodagi, S S Surana, V R Potdar, S S Kirdi

Heart Views 2016, vol 17 (1): 27-29

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879802/

■ Absent left main coronary artery and separate ostia of left coronary system in a patient with Holt-Oram and sinus node dysfunction

T T Aung, E S Roberto, A Wase

Am J Case Rep 2016, vol 17: 93-96

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763810/

■ Evaluation of patient with Holt-Oram syndrome in terms of oral and maxilofacial findings

Z Arslanoglu, F Bilgic, E Kale et al

J Pediatr Dent 2016, vol 4: 24-18

http://www.jpediatrdent.org/article.asp?issn=2321-6646;year=2016;volume=4;issue=1;spage=24;epage=28;aulast=Arslanoglu

■ Syndromic anorectal malformation associated with Holt-Oram syndrome microcephaly, and bilateral corneal opacity: a case report

U E Usang, T U Agan, A W Inyang et al

J Med Case Rep. 2016, vol 10: 216

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974687/

■ A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function

M Dreben, H Lahm, A Lahm et al

Mol Genet Genomic Med 2016, vol 4 (5): 557-567

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023941/

■ Defining features of the upper extremity in Holt-Oram syndrome

L B Wall, S L Piper, R Habenicht et al

J Hand Surg Am 2015, vol 40 (9): 1764-1768

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757499/

■ A novel missense mutation in the TBX5 in a Saudi infant with Holt-Oram syndrome

M M Al-Qattan, H A Al-Shaar,

Saudi Med J 2015, vol 36 (8): 980-982

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549596/

■ Holt Oram syndrome: a registry-based study in Europe

I Barisic, L Boban, R Greenlees et al

Orphanet J Rare Dis 2014, vol 9: 156

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245183/

■ Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome

G Chryssostomidis, M Kankis, V Fotiadou et al

Int J Surg Case Rep 2014, vol 5 (7): 389-389

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064427/

■ Holt-Oram syndrome in adult presenting with heart failure: a rare presentation

R Kumar, S S Mahapatra, M Datta et al

Case Rep Cardiol 2014, 2014: 130617

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006581/

■ Anesthetic implications in Holt-Oram syndrome

A Singh, V S Pathania, S Girotra et al

Anesthetic Card Anaesth 2013, vol 16: 157-158

http://www.annals.in/article.asp?issn=0971-9784;year=2013;volume=16;issue=2;spage=157;epage=158;aulast=Singh

■ Holt-Oram syndrome associated with double outlet right ventricle

B Singh, M Kariyappa, I B Vijayalakshmi et al

Ann Ped Card 2013, vol 6: 90-2

http://www.annalspc.com/article.asp?issn=0974-2069;year=2013;volume=6;issue=1;spage=90;epage=92;aulast=Singh

■ TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype

C Patel, L Silcock, D McMullan et al

Eur J Hum Genet 2012, vol 20 (8): 863-869

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400730/

■ Síndrome de Holt Oram. Descripción de uma família afectada sin mutación del gen TBX5 ni manifestaciones em un probalble transmissor

N Murga-Eizagaechevarria, M Garcia-Barcina, E S Diez

Revista Española de Cardiologia 2011, vol 64 (12)

http://www.revespcardiol.org/es/holt-oram-syndrome-family-affected-without/articulo/90040554/

■ A boy with Holt-Oram syndrome caused by novel mutation c.1304delT in the TBX5 gene

K Muru, I Kalev, R Teek et AL

Mol Syndromoll 2010, vol 1: 307-310

https://www.karger.com/article/FullText/330109

■ Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

Porto, Marianna P.R. et al.

Genet. Mol. Biol., 2010, vol.33, no.2, p.232-236

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006&lng=en&nrm=iso