ABSTRACT
Introducción: La Hipercolesterolemia familiar (HF) es una enfermedad genética de carácter autosómico dominante, poco frecuente, generada por la mutación en el cromosoma 19. Es la primera causa de enfermedad cardiovascular prematura. Las mutaciones patogénicas que generan la HF se relacionan con el receptor de LDL (LDLr), la apolipoproteina B-100 (Apo- B100) y la proteína convertasa subtilisina / kexina tipo 9 (PCSK9), que produce elevación del colesterol y alteración de la vía del LDLr en el 80 % de los casos diagnosticados de HF (5). Presentamos un reporte de caso de cuatro pacientes que pertenecen a la misma familia, quienes presentan mutaciones patogénicas de diferente compromiso a nivel cardiovascular y sistémico que ha afectado de manera negativa su cotidianidad. El objetivo de este trabajo es realizar una correlación del hipercolesterolemia familiar de tipo genético a partir de la literatura, con respecto a la serie de casos presentada, y evaluar el impacto que este genera en los servicios de salud, en la vida del paciente y su familia. Discusión: El reporte de caso que presentamos se fundamenta en la sospecha de HF según los criterios de Holanda. En estos pacientes se reconoce mutación del gen LDLr que se relaciona con HF. Sin embargo, no ha sido ampliamente estudiada. Chmara realizó en Polonia por primera vez un estudio en el que reportó la variante ac 11G>T. En Colombia, el estudio de López encontró tres mutaciones, identificadas como variante a c.11G > A, n c.416A > G y c.1187G > A (8). Conclusión: La HF en nuestro medio es poco frecuente y con gran impacto social, en la mayoría de los casos genera síntomas clínicos y aumento del riesgo cardiovascular desde una edad temprana. Es importante resaltar el diagnóstico oportuno y el conocimiento por parte del personal de salud para generar una calidad de vida adecuada a los pacientes y evitar que aumente el riesgo cardiovascular.
Introduction: Familial hypercholesterolemia (FH) is a rare autosomal dominant genetic disease caused by a chromosome 19 mutation. It is the main cause of premature cardiovascular disease. Pathogenic mutations which cause FH are related to the LDL receptor (LDLr), B-100 apolipoprotein (Apo-B100) and type 9 subtilisin/kexin convertase protein (PCSK9), causing blood cholesterol increase and impairment of the LDLr pathway in up to 80% of patients diagnosed with FH. We present the case of 4 patients belonging to the same family and who present pathogenic mutations leading to diverse kinds of cardiovascular and systemic disease. Discussion: The case report we are presenting is based on the suspicion of FH according to the dutch criteria. These patients had the LDLr gene mutation related to FH. However, this mutation has not been thoroughly studied. The ac 11G>T variant was reported for the first time in Poland by Chmara. In Colombia, Lopez found 3 mutations identified as variant a c.11G > A, variant n c.416A > G and variant c.1187G > A. Conclusion: FH is rare in Colombia. Early diagnosis and healthcare worker awareness must be highlighted to improve the quality of life and decrease the cardiovascular risk of patients.
ABSTRACT
BACKGROUND: Ocular toxoplasmosis (OT) is the most common cause of posterior uveitis, which leads to visual impairment in a large proportion of patients. Antibiotics and corticosteroids lower the risk of permanent visual loss by controlling infection and inflammation. However, there remains disagreement regarding optimal antibiotic therapy for OT. Therefore, this systematic review and meta-analysis were performed to determine the effects and safety of existing antibiotic treatment regimens for OT. METHODS: MEDLINE, EMBASE, The Cochrane Central Register of Controlled Trials, LILACS, WHO International Clinical Trials Registry Platform portal, ClinicalTrials.gov, and Gray Literature in Europe ("OpenGrey") were searched for relevant studies; manual searches of reference lists were performed for studies identified by other methods. All published and unpublished randomized controlled trials that compared antibiotic schemes known to be effective in OT at any dosage, duration, and administration route were included. Studies comparing antibiotics with placebo were excluded. This review followed standard methodological procedures recommended by the Cochrane group. RESULTS: Ten studies were included in the narrative summary, of which four were included for quantitative synthesis (meta-analysis). Interventions were organized into three groups: intravitreal clindamycin versus pyrimethamine + sulfadiazine, trimethoprim + sulfamethoxazole versus other antibiotics, and other interventions. The first comparison favored intravitreal clindamycin (Mean difference (MD) = 0.10 logMAR; 95% confidence interval = 0.01 to 0.22). However, this finding lacks clinical relevance. Other outcomes showed no statistically significant differences between the treatment groups. In general, the risk of performance bias was high in evaluated studies, and the quality of the evidence found was low to very low. CONCLUSIONS: No antibiotic scheme was superior to others, and the selection of a treatment regimen depends on multiple factors; therefore, treatment should be chosen based on safety, sulfa allergies, and availability.
Subject(s)
Anti-Bacterial Agents , Toxoplasmosis, Ocular , Anti-Bacterial Agents/adverse effects , Clindamycin , Europe , Humans , Toxoplasmosis, Ocular/drug therapyABSTRACT
BACKGROUND: Ocular toxoplasmosis (OT) is the most common cause of posterior uveitis, leading to visual impairment in a high proportion of patients. Antibiotics and corticosteroids lower the risk of permanent visual impairment by reducing the size of the retinochoroidal scar, the risk of recurrence, and the severity and duration of acute symptoms. Although OT is a very common cause of infectious posterior uveitis, its treatment remains controversial. Through our systematic review and meta-analysis, we aim to provide the best possible evidence-based information on the safety and effectiveness of the different antibiotic regimes for OT. METHODS: This systematic review protocol has been developed based on PRISMA-P guidelines for reporting systematic reviews evaluating health care interventions. We will include all published and unpublished randomized controlled trials (RCTs) comparing different antibiotics used for the treatment of OT. We will consider changes in visual acuity, number of recurrences, improvement or worsening of ocular inflammation, size of lesion, and adverse effects as our outcomes. Screening, data extraction, and quality assessment will be undertaken by two reviewers with disagreements resolved through discussion. Studies that compared antibiotics with placebo will be excluded. The reviews will be assessed for quality and relevance. We will assess the risk of bias in five domains according to Cochrane group's tool. The type of data will dictate measures of treatment effect. We will use a random-effects model to calculate our meta-analysis, as eligible studies represent clinically varied populations of participants. DISCUSSION: The strength of our study will lie in the exhaustive and systematic nature of the literature search, as well as in its methods for assessing quality and analyzing RCT data. Considering the controversial efficacy of the treatment for OT, our study will contribute to improving the existing evidence on the effectiveness of different antibiotics. Future studies may be conducted to increase physicians' awareness of antibiotic therapies, improving the health of patients with OT. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42018085468.
