Background: Familial Medullary Thyroid Cancer (FMTC) is hereditary in 25% of cases. Patients with an inherited form of FMTC usually have a germline mutation in the RET proto-oncogene (10q11.2); these mutations generally occur in exons 10 (codons 618 and 620) and 11 (codons 630, 631, and 634). Methods: A narrative review of articles focused on the pathology of familial medullary thyroid cancer was carried out using the next databases PubMed, ScienceDirect, BMC, Springer, Frontiers, PMC, Wiley Online Library, Cold Spring Harbor and ELSEVIER. This search was carried out between August and September 2021. Results: 19 studies were selected in which the following mutations were found: five studies (26.31%) reported mutation in exon 10; three studies (15.78%) in exon 11; three studies in exon 13 (one of them associated with a rare mutation in exon 7) (10.52% plus 5.26%); three studies (15.78%) in exon 14; two studies (10.52%) in exon 15; two (10.52%) in exon 16; and one (5.26%) rare FMTC NO RET. The two most frequent mutations were in codons 620 of exon 10 and 804 of exon 14. Conclusion: The findings of this review are consistent with the medical literature, finding the most common RET mutations in exon 10 and codon 620. It is essential that in patients with a presumptive diagnosis, genetic studies (identification of germline mutations in the RET proto-oncogene, located on chromosome 10q11.2) be performed.

OBJETIVO: Evaluar la asociación de la presión diastólica (PAD) y variables metabólicas en embarazadas. METODOLOGÍA: Estudio retrospectivo, transversal en embarazadas de término, mayores de 25 años, con embarazo único, agrupadas por Índice de Masa Corporal (IMC). A todas se les midieron lípidos, glucosa y PAD. Se calculó Odds Ratio (IC 95 %), correlación de Spearman entre variables y Kruskal Wallis utilizando SPSS v21.0. RESULTADOS: Se incluyeron 60 embarazadas normoevolutivas, edad promedio 30.9 ± 4.5 años, obteniendo una prevalencia de 41.6 % para sobrepeso y 31.6 % para obesidad. Los valores de glucemia en ayuno fueron de 102.2 ± 49.8 mg/dL en obesidad, 89.8 ± 28.7 mg/dL en sobrepeso y 84.5 ± 12.3 mg/dL en normopeso. Los valores medios de la PAD y PAS mostraron una correlación positiva con el valor medio de IMC pregestacional y gestacional. Mientras que, para las concentraciones de glucosa y lípidos, se obtuvo una correlación positiva con el valor medio de la PAD. CONCLUSIÓN: Se confirma asociación de la PAD con el IMC pregestacional.