Serum LncRNA PCAT-1 Expression Level of Patients with Multiple Myeloma and Clinical Value / 现代检验医学杂志

Objective To explore serum long stranded noncoding RNA (lncRNA) transcript 1 (PCAT-1) expression level of patients with multiple myeloma (MM) and clinical value.Methods 72 cases of patients with MM treated in the Second People's Hospital of Zhaoqing City were selected as the study objects,and 60 cases of normal subjects undergoing physical examination in the same period were as the control group.Serum lncRNA PCAT-1 expression was detected by RT-PCR method.The relationship between lncRNA PCAT 1 expression and clinical pathological parameters,treatment effect was analyzed,and 5 years survival was analyzed by using Kaplan-Meier,and survival difference was detected by using Log-Rank method.Results Serum PCAT-1mRNA expression in MM group (2.65 ± 0.64) was significantly higher than that in the control group (1.06 ± 0.23,t=18.276,P=0.000).There were no significant differences in sex,clinical stage and pathological types of hemoglobin,plasma cells,platelets,albumin,β2-MG and CRP between PCAT 1 mRNA high expression group and low expression group (x2 =0.001 ～ 3.345,all P ＞ 0.05).Ca2+ ≥ 10 mg/dl in the PCAT-1 high expression group (57.14％) was significantly higher than that in the low expression group (27.27％,x2 =5.229,P=0.022).There was no significant difference in treatment effect between PCAT-1 mRNA high expression group and low expression group (88.64 ％ vs 75.00％,x2 =2.291,P=0.130).PFS and OS expression in PCAT-1 high expression group were lower than that in the low expression group (x2 =7.269,P =0.007;x2 =9.190,P =0.002).COX risk regression multiple factor analysis showed that age and PCAT-1mRNA expression were independent prognostic factors influencing patients (OR =3.275,P =0.025,95％CI:2.691～3.761;OR=2.136,P=0.046,95％CI:2.034～2.685).Conclusion LncRNA PCAT-1 is highly expressed in serum of patients with multiple myeloma,and correlated with the prognosis of patients.

Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation

Multiple endocrine neoplasia type 1 is an inherited endocrine tumor syndrome, predominantly characterized by tumors of the parathyroid glands, gastroenteropancreatic tumors, pituitary adenomas, adrenal adenomas, and neuroendocrine tumors of the thymus, lungs or stomach. Multiple endocrine neoplasia type 1 is caused by germline mutations of the multiple endocrine neoplasia type 1 tumor suppressor gene. The initial germline mutation, loss of the wild-type allele, and modifying genetic and possibly epigenetic and environmental events eventually result in multiple endocrine neoplasia type 1 tumors. Our understanding of the function of the multiple endocrine neoplasia type 1 gene product, menin, has increased significantly over the years. However, to date, no clear genotype-phenotype correlation has been established. In this review we discuss reports on exceptional clinical presentations of multiple endocrine neoplasia type 1, which may provide more insight into the pathogenesis of this disorder and offer clues for a possible genotype-phenotype correlation.

Expresión clínica del síndrome de muerte súbita cardíaca / Clinical expression of cardiac sudden death syndrome

Objetivo: Describir la expresión clínica del síndrome de muerte súbita cardíaca en poblaciones de Ciudad de La Habana, Cuba, durante el período 2000-2004. Diseño: Observacional, descriptivo, prospectivo, transversal. Métodos: Se estudiaron las muertes naturales atribuibles a causas cardíacas, durante 5 años, y se determinaron cuáles de estas fueron súbitas. El estudio SUCADES I (SUdden CArdiac DEath Study I) fue realizado en la municipalidad de Arroyo Naranjo con una población de 210 000 hab, incluyó 5 098 decesos por muerte natural, de los cuales, 474 fueron por muerte súbita. Se documentó la expresión clínica del síndrome a partir del tiempo de aparición, tiempo de inicio de los síntomas y síntomas premonitorios en los sucesos instantáneos y los no instantáneos. El lugar de presentación incluyó el medio extrahospitalario y el intrahospitalario. Resultados: El 45,4 por ciento de las muertes súbitas fueron instantáneas, el 38,2 por ciento ocurrió en la primera hora del inicio de los síntomas, en el horario de 06:00-11:59 a.m. (30,0 por ciento). La pérdida de la conciencia (72,4 por ciento) y la disnea (36,9 por ciento) fueron los síntomas premonitorios de muerte instantánea y no instantánea más frecuentes, respectivamente. El 66,2 por ciento de las paradas cardíacas se iniciaron en el ámbito extrahospitalario, predominó el domicilio de las víctimas (35,0 por ciento). Conclusiones: Clínicamente la muerte súbita se manifestó por pérdida de la conciencia (instantánea), durante la primera hora del inicio de los síntomas, en el domicilio de las víctimas, en el período de 06:00-11:59 a.m

Objective: To describe the clinical expression of cardiac sudden death syndrome in populations from Ciudad de La Habana over 2000-2004. Design: Observational, descriptive, prospective and cross-sectional. Methods: The natural deaths attributable to cardiac causes over 5 years determining which of them were sudden. The SUCADES I study (Sudden Cardiac Death Syndrome) was conducted in the Arroyo Naranjo municipality with a population of 210 000 inhabitants and included 5 098 deceases from natural death, from which 474 were sudden deaths. The clinical expression of the syndrome was documented from the time of appearance, time of onset of the premonitory symptoms and warning symptoms in instantaneous and non-instantaneous events. The place of presentation included the outside hospital environment. Results: The 45,4 percent of sudden events were instantaneous, the 38,2 percent occurred during the first hour of the onset of symptoms at 06.00-11.59 hours (30 percent). The consciousness loss (72,4 percent) and dyspnea (36,9 percent) were the more frequent premonitory symptoms of instantaneous ad non-instantaneous death, respectively. The 66,2 percent of cardiac arrest occurred outside the hospital mainly at home of victims (35,0 percent). Conclusions: Clinically, the sudden death is characterized by the consciousness loss (instantaneous) during the first hour of symptoms onset, at home and at 06.00-11.59 hours