4 research outputs found
Un caso de hipocolesterolemia a estudio
Las hipocolesterolemias primarias (o hipobetalipoproteinemias) constituyen un trastorno infrecuente del metabolismo de las lipoproteínas que pueden obedecer a una predisposición poligénica o a una enfermedad monogénica. Entre estas, es posible diferenciar entre formas sintomáticas y asintomáticas, en las que, en ausencia de causas secundarias, la sospecha clínica inicial son concentraciones plasmáticas de ApoB por debajo del percentil 5 de la distribución por edad y sexo. En esta nota clínica describimos del diagnóstico diferencial de un caso de hipocolesterolemia asintomática. Estudiamos los datos clínicos de la paciente índice, así como su perfil lipídico y el de los familiares junto con los datos clínicos de estos que son relevantes para realizar el diagnóstico diferencial. Se realizó un estudio genético como prueba diagnóstica. El diagnóstico diferencial realizado sugirió una hipobetalipoproteinemia heterocigota por variantes de pérdida de función en PCSK9. La prueba diagnóstica puso de manifiesto, en la paciente índice, la presencia de una variante de cambio de pauta de lectura en PCSK9, en heterocigosis, de origen materno. Las concentraciones plasmáticas de colesterol de LDL y PCSK9 de la paciente y los familiares, fueron compatibles con la segregación de dicha variante. En conclusión, la prueba diagnóstica realizada permitió confirmar el diagnóstico de sospecha en el caso estudiado de hipobetalipoproteinemia familiar asintomática a causa de una variante de pérdida de función en el gen PCSK9.Fondos propios del grupo (CTS-159) provenientes del Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI).
Funding for open access charge: Universidad de Málaga / CBU
Effects of GLP-1 receptor agonists on neurological complications of diabetes
Emerging evidence suggests that treatment with glucagon-like peptide-1 receptor agonists (GLP-1 RAs) could be an interesting treatment strategy to reduce neurological complications such as stroke, cognitive impairment, and peripheral neuropathy. We performed a systematic review to examine the evidence concerning the effects of GLP-1 RAs on neurological complications of diabetes. The databases used were Pubmed, Scopus and Cochrane. We selected clinical trials which analysed the effect of GLP-1 RAs on stroke, cognitive impairment, and peripheral neuropathy. We found a total of 19 studies: 8 studies include stroke or major cardiovascular events, 7 involve cognitive impairment and 4 include peripheral neuropathy. Semaglutide subcutaneous and dulaglutide reduced stroke cases. Liraglutide, albiglutide, oral semaglutide and efpeglenatide, were not shown to reduce the number of strokes but did reduce major cardiovascular events. Exenatide, dulaglutide and liraglutide improved general cognition but no significant effect on diabetic peripheral neuropathy has been reported with GLP-1 RAs. GLP-1 RAs are promising drugs that seem to be useful in the reduction of some neurological complications of diabetes. However, more studies are neededThis work was supported by the Instituto de Salud Carlos III (PI19/01375) co-financed with FEDER programme fund.
Funding for open access publishing: Universidad Málaga/CBU
Laboratory diagnosis of severe hypertriglyceridaemia. Cases from the dyslipidaemia regristy of the spanish atherosclerosis society
Background and Aims
Severe hypertriglyceridaemia (sHTG) increases the risk of cardiovascular disease and acute pancreatitis
episodes. Patients with sHTG fit mainly into two clinical entities: Familial or Multifactorial Chylomicronemia
Syndromes (FCS and MCS, respectively). FCS and MCS exhibit clinical differences but also separate genetic and
biochemical characteristics that can be assessed in the laboratory. The aim of this work has been to implement
a laboratory workflow to help diagnose sHTG patients with either FCS or MCS.
Methods
Patients with two fasting triglycerides >1000mg/dL determinations were sequenced with a capture probe
panel of 24 triglycerides-related genes using massive parallel sequencing (n=200). Two-step sequential
ultracentrifugation was performed (n= 159) to diagnose Type I hyperlipoproteinemia (HLP I) and post heparin
lipoprotein lipase activity was measured to discard or confirm its deficiency (n=60).
Results
Most patients had MCS as they: (i) did not exhibit HLPI and/or (ii) their genetic profile was not compatible with
FCS and (iii) were not deficient in LPL activity. FCS cases were identified as they had: (i) HLPI, and/or (ii) biallelic
pathogenic variants in LPL (n=5), GPIHBP1 (n=3), or LMF1 (n=2) genes and/or (iii) LPL activity deficiency. We
identified 4 FCS patients with HLPI, biallelic pathogenic variants in APOA5 but a rescued LPL activity. An
additional study of Apo-AV functionality was designed to confirm the FCS diagnosis in these cases.
Conclusions
Laboratory studies, in patients with severe hypertriglyceridaemia, provide with information of clinical utility to
distinguish between Familial and Multifactorial Chylomicronemia Syndromes.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech
Structural and functional brain changes in middle-aged type 2 diabetic patients: a cross-sectional study.
Journal Article;BACKGROUND
Type 2 diabetes mellitus (T2DM) is an emerging risk factor for cognitive impairment. Whether this impairment is a direct effect of this metabolic disorder on brain function, a consequence of vascular disease, or both, remains unknown. Structural and functional neuroimaging studies in patients with T2DM could help to elucidate this question.
OBJECTIVE
We designed a cross-sectional study comparing 25 T2DM patients with 25 age- and gender-matched healthy control participants. Clinical information, APOE genotype, lipid and glucose analysis, structural cerebral magnetic resonance imaging including voxel-based morphometry, and F-18 fluorodeoxyglucose positron emission tomography were obtained in all subjects.
METHODS
Gray matter densities and metabolic differences between groups were analyzed using statistical parametric mapping. In addition to comparing the neuroimaging profiles of both groups, we correlated neuroimaging findings with HbA1c levels, duration of T2DM, and insulin resistance measurement (HOMA-IR) in the diabetic patients group. Results: Patients with T2DM presented reduced gray matter densities and reduced cerebral glucose metabolism in several fronto-temporal brain regions after controlling for various vascular risk factors. Furthermore, within the T2DM group, longer disease duration, and higher HbA1c levels and HOMA-IR were associated with lower gray matter density and reduced cerebral glucose metabolism in fronto-temporal regions.
CONCLUSION
In agreement with previous reports, our findings indicate that T2DM leads to structural and metabolic abnormalities in fronto-temporal areas. Furthermore, they suggest that these abnormalities are not entirely explained by the role of T2DM as a cardiovascular risk factor.Ye