Reconstrucción mamaria inmediata prepectoral / Immediate prepectoral breast reconstruction

Introducción. La reconstrucción mamaria inmediata con implantes prepectorales permite realizar la mastectomía oncológica con un resultado estético en un solo tiempo quirúrgico y con menor morbilidad del área dadora. Las indicaciones son precisas, en directa relación con las condiciones de la mastectomía. Material y métodos. Se presentan 83 pacientes en el período comprendido entre febrero de 2020 a febrero de 2022 con mastectomías uni- y bilaterales, con conservación del complejo areola-pezón los cuales fueron injertados en 7 casos. La incisión en surco submamario se realizó en 60 casos, radiada externa en 8 casos, vertical en 8 casos y 7 casos con patrón de reducción en el Instituto Oncológico Alexander Fleming. Los criterios de exclusión que utilizamos son tumores mamarios a menos de 1 cm del complejo areola pezón y tumores localmente avanzados. Resultados. En total se realizaron 98 mastectomías, de las cuales 86 fueron terapéuticas y 12 profilácticas por mutaciones genéticas. La extracción de ganglios se realizó por una incisión axilar, excepto en el patrón de reducción donde se realizó a través de la incisión de la mastectomía. En 42 pacientes se utilizaron implantes anatómicos y en 56 casos redondos texturizados. El seguimiento de las pacientes fue a 25 meses. Conclusión. La reconstrucción mamaria prepectoral lleva a la reconstrucción de la mama en el mismo espacio con una baja morbilidad y resultado natural. Las indicaciones para esta técnica deben ser muy precisas para lograr obtener los resultados deseados. En nuestra experiencia, la reconstrucción mamaria inmediata con implante directo es una técnica segura y reproducible, con excelentes resultados en pacientes en las que está debidamente indicada la técnica, con una baja tasa de complicaciones y disminución en el tiempo de tratamiento y de recuperación.

Introduction. Immediate breast reconstruction with pre pectoral implants allows to perform oncologic mastectomy with an aesthetic result in a single surgical time and with less morbidity of the donor area. The indications are precise and directly related to the conditions of the mastectomy. Material and methods. We present 83 patients in the period from February 2020 to February 2022 with uni and bilateral mastectomies, with preservation of the nipple-areola complex which was grafted in 7 cases. The incision in the submammary sulcus was performed in 60 cases, external radiated in 8 cases, vertical in 8 cases and 7 with reduction pattern at the Alexander Fleming Oncological Institute. The exclusion criteria we used are breast tumors less than 1 cm from the nipple areola complex and locally advanced tumors. Results. A total of 98 mastectomies were performed, of which 86 were therapeutic and 12 prophylactic for genetic mutations. Node removal was performed through an axillary incision, except in the reduction pattern where it was performed through the mastectomy incision. Anatomical implants were used in 42 patients and textured round implants in 56 cases. The follow-up of the patients was 25 months. Conclusion. Pre pectoral breast reconstruction leads to reconstruction of the breast in the same space with low morbidity and natural results. The indications for this technique must be very precise to achieve the desired results. In our experience, immediate breast reconstruction with direct implant is a safe and reproductible technique, with excellent results in patients in whom the technique is properly indicated, with a low rate of complications and decrease in treatment and recovery time.

Real-life analysis on safety and efficacy of asciminib for ponatinib pretreated patients with chronic myeloid leukemia.

Failure of second-generation tyrosine kinase inhibitors (2GTKI) is a challenging situation in patients with chronic myeloid leukemia (CML). Asciminib, recently approved by the US Federal Drug Administration, has demonstrated in clinical trials a good efficacy and safety profile after failure of 2GTKI. However, no study has specifically addressed response rates to asciminib in ponatinib pretreated patients (PPT). Here, we present data on responses to asciminib from 52 patients in clinical practice, 20 of them (38%) with prior ponatinib exposure. We analyzed retrospectively responses and toxicities under asciminib and compared results between PPT and non-PPT patients.After a median follow-up of 30 months, 34 patients (65%) switched to asciminib due to intolerance and 18 (35%) due to resistance to prior TKIs. Forty-six patients (88%) had received at least 3 prior TKIs. Regarding responses, complete cytogenetic response was achieved or maintained in 74% and 53% for non-PPT and PPT patients, respectively. Deeper responses such as major molecular response and molecular response 4.5 were achieved in 65% and 19% in non-PPT versus 32% and 11% in PPT, respectively. Two patients (4%) harbored the T315I mutation, both PPT.In terms of toxicities, non-PPT displayed 22% grade 3-4 TEAE versus 20% in PPT. Four patients (20% of PPT) suffered from cross-intolerance with asciminib as they did under ponatinib.Our data supports asciminib as a promising alternative in resistant and intolerant non-PPT patients, as well as in intolerant PPT patients; the resistant PPT subset remains as a challenging group in need of further therapeutic options.

A RAC-GEF network critical for early intestinal tumourigenesis.

RAC1 activity is critical for intestinal homeostasis, and is required for hyperproliferation driven by loss of the tumour suppressor gene Apc in the murine intestine. To avoid the impact of direct targeting upon homeostasis, we reasoned that indirect targeting of RAC1 via RAC-GEFs might be effective. Transcriptional profiling of Apc deficient intestinal tissue identified Vav3 and Tiam1 as key targets. Deletion of these indicated that while TIAM1 deficiency could suppress Apc-driven hyperproliferation, it had no impact upon tumourigenesis, while VAV3 deficiency had no effect. Intriguingly, deletion of either gene resulted in upregulation of Vav2, with subsequent targeting of all three (Vav2-/- Vav3-/- Tiam1-/-), profoundly suppressing hyperproliferation, tumourigenesis and RAC1 activity, without impacting normal homeostasis. Critically, the observed RAC-GEF dependency was negated by oncogenic KRAS mutation. Together, these data demonstrate that while targeting RAC-GEF molecules may have therapeutic impact at early stages, this benefit may be lost in late stage disease.

Tentorial Incision vs. Retraction of the Tentorial Edge during the Subtemporal Approach: Anatomical Comparison in Cadaveric Dissections and Retrospective Clinical Case Series.

Objective The aim of this study was to compare tentorial incision (group A) versus retraction and tack up suture (group B) of the tentorial edge during the subtemporal approach for surgery in the high basilar region. Design 24 cadaveric dissections and 4 clinical cases of aneurysms of the high basilar region are presented. Assessment included visibility and operability afforded by either tentorial incision creating a dural flap (group A) or retraction of the tentorial edge and tethering with a suture (group B). Four patients, two with superior cerebellar artery aneurysms and two with proximal posterior cerebral artery aneurysms were treated with each approach. Results In the quantitative evaluations, we found no significant difference in the exposure of the posterior cerebral, superior cerebellar, and perforant arteries as well as surgical working area provided by either approach. However, tentorial incision allowed a significantly greater exposure of the basilar artery and the fourth cranial nerve (both p < 0.001). Concerning operability, tentorial incision provided no objective advantage for direct clipping of the high basilar region (groups A vs. B, p > 0.05). Subjectively, clipping of the high basilar segment was feasible using tentorial tethering only. Conclusion Retraction of the free edge of the tentorium downward by tethering with a suture is simple and fast method for exposure of aneurysms in the high basilar region when the pathology does not require a proximal control. In our data the rather more invasive and time consuming tentorial incision provided an additional objectified advantage only for placement of a proximal temporary clip.

Manifestaciones dermatológicas en kwashiorkor: reporte de caso y revisión de la literatura / Dermatological manifestations in kwashiorkor: case report and review of literature

RESUMEN Objetivo: presentar un reporte de caso y revisión de la literatura de una paciente diagnosticada con Kwashiorkor, por sus manifestaciones dermatológicas y clínicas. Métodos: se valora en el servicio de Urgencias a una lactante menor, femenina, de 4 meses de edad, con un cuadro de aproximadamente 15 días de lesiones asintomáticas, que se inician en miembros inferiores con posterior diseminación a tronco, miembros superiores y cara. La madre refiere alimentación exclusiva con avena desde el mes de vida. Resultados: se realizó un manejo interdisciplinario, con los servicios de Pediatría, Nutrición y Dermatología con adecuada evolución clínica de la paciente, observando importante mejoría del cuadro cutáneo, a los pocos días de su estancia hospitalaria. Conclusiones: aunque no es una patología muy frecuente hoy en día, sigue sucediendo en países en vía de desarrollo y desarrollados, por lo que es importante siempre tenerla como diagnóstico diferencial para un abordaje adecuado y educar a los padres y cuidadores.

SUMMARY Objective: wepresent a case report and review of the literature of a patient, diagnosed with Kwashiorkor due to its dermatological and clinical manifestations. Methods: a 4-month-old female infant was evaluated in the Emergency department for approximately 15 days of asymptomatic lesionsthat began in the lower limbs with subsequent dissemination to the trunk, upper limbs and face. The mother refers a diet since four months of age only with oats, denies maternal lactation. Results: an interdisciplinary management was carried out, with the Pediatric service, Nutrition and Dermatology with adequate clinical evolution of the patient, observing an important improvement of the cutaneous lesions, after a few days in the hospital. Conclusions: although it is not a very frequent pathology, it is still happening in developing countries and developed, so it is important to always have it as a differential diagnosis for an adequate approach and always educate parents and caregivers.

Inverse association for diagnosis of Alzheimer's disease subsequent to both melanoma and non-melanoma skin cancers in a large, urban, single-centre, Midwestern US patient population.

BACKGROUND: Although literature demonstrates a decreased risk of Alzheimer's disease (AD) in individuals with various cancers, including squamous cell cancers (SCC) and basal cell cancers (BCC) comprising non-melanoma skin cancers (NMSC), there is a paucity of literature to substantiate an association between malignant melanoma (MM) and AD. OBJECTIVE: The aim of this study was to determine whether an association exists between MM and AD as well as for NMSC and AD. METHODS: A large urban, Midwestern, US, single-centre, medical record (EMR) data repository was searched between January 2001 and December 2015, to identify all patients at age ≥60 and <89 years with a clinic follow-up of at least 1 year and no diagnosis for AD, MM or NMSC at the time of the study entry. Data collected included age, gender, race and duration of follow-up. MM and NMSC were detected by ICD-9 codes and ICD-10 codes. Incident diagnosis of AD was also detected by ICD-9 and ICD-10 codes. Logistic regression analysis was utilized to obtain crude and adjusted odds ratios (ORs). RESULTS: Data for a total of 82 925 patients with known race and gender and were detected. After adjusting for confounding factors (race, gender, age, cerebrovascular disease, peripheral vascular disease and diabetes), there was a significant decreased risk of subsequent AD in patients with MM (OR: 0.39; 95% CI: 0.16-0.96; P = 0.042) as well as in patients with BCC (OR: 0.18; 95% CI: 0.08-0.45; P < 0.0001) and for patients with SCC (OR: 0.08; 95% CI: 0.01-0.56; P = 0.013). CONCLUSION: These findings add to the growing body of evidence for a decreased risk of AD in patients with various cancers and highlight the need for ongoing research to elucidate both neurologic and biologic mechanisms that may underlie this apparent inverse association.

PCR evaluation of selected vector-borne pathogens in dogs with pericardial effusion.

OBJECTIVES: To investigate evidence for selected vector-borne pathogen infections in dogs with pericardial effusion living in a Mediterranean area in which several canine vector-borne diseases are endemic. MATERIALS AND METHODS: Archived EDTA blood (n=68) and pericardial fluid samples (n=58) from dogs with pericardial effusion (n=68) were included. Dogs without pericardial effusion examined for other reasons were included as controls (n=60). Pericardial effusion was classified as neoplastic in 40 dogs, idiopathic in 23 dogs and of unknown aetiology in 5 dogs. Real-time PCR was performed for Leishmania infantum, Ehrlichia/Anaplasma species, Hepatozoon canis, Babesia species, Rickettsia species and Bartonella species, and sequencing of PCR products from positive samples was used to confirm species specificity. RESULTS: Vector-borne pathogens were found in 18 dogs: 16 of 68 dogs with pericardial effusion (23·5%) and two of 60 control dogs (3·3%). Positive dogs demonstrated DNA of Leishmania infantum (n=7), Anaplasma platys (n=2, one dog coinfected with Leishmania infantum), Babesia canis (n=5), Babesia gibsoni (n=3) and Hepatozoon canis (n=2). Vector-borne pathogens were more commonly detected among dogs with pericardial effusion than controls (P=0·001). There was no relationship between aetiology of the pericardial effusion and evidence of vector-borne pathogens (P=0·932). CLINICAL SIGNIFICANCE: Vector-borne pathogens are often detected in dogs with pericardial effusion and require further investigation, especially in dogs with idiopathic pericardial effusion. PCR can provide additional information about the potential role of vector-borne pathogens in dogs with pericardial effusion living in endemic areas.

Identification of oestrogen, progesterone receptor and human epidermal growth factor receptor 2 expression in mediastinal metastases of breast cancer obtained by endobronchial ultrasound-guided transbronchial needle aspiration.

BACKGROUND: In breast cancer patients, the expression statuses of oestrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) are crucial in the choice of treatment. Receptor expression in metastatic lesions can differ from the primary tumour. The aim of our study was to analyse the utility of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) to obtain samples allowing the identification of ER, PR and HER2 expression in patients with mediastinal metastases of breast cancer. PATIENTS AND METHODS: The clinical files of all patients with a final diagnosis of breast cancer mediastinal metastases diagnosed by EBUS-TBNA in our institution were retrospectively analysed. The ability of EBUS-TBNA to obtain samples that allowed hormone receptor and HER2 expression analysis was calculated. RESULTS: Twenty-four patients were included. ER, PR and HER2 assessments could be performed in 22, 20 and 22 patients, respectively. In 20 of the 24 patients it was possible to investigate all three types of receptor expression. In the remaining four cases, where ER, PR or HER2 expression tests could not be performed, it was due to a lack of tissue. In cases with adequate results for EBUS-TBNA and the primary tumour agreement was greater for ER (16/19) and HER2 (12/14) than PR (8/17). Based on receptor status, there was a change in the choice of treatment for five patients. CONCLUSION: In patients with breast cancer mediastinal metastases, ER, PR and HER2 expression can be assessed in samples obtained by EBUS-TBNA whenever a sufficient tissue sample is collected.

A New Quantitative Approach to Assessing Noncompliance With Medical Recommendations in Heart Transplant Recipients.

BACKGROUND: Failure of compliance with medical regimen is one of the major risk factors associated with morbidity and mortality in heart transplant (HT) recipients. Nevertheless, to date, there is no specific, gold-standard, comprehensive set of tools for assessing compliance in these patients. OBJECTIVE: The objective of the present study was to develop a specific instrument for the assessment of noncompliance with medical recommendations in HT recipients. METHODS: This prospective observational study used a nonprobability sampling method, which was performed from January 2006 to December 2012. All of the patients met clinical criteria for being included on the waiting list for a HT. We designed a scale for measuring the compliance degree at 12 months after heart transplantation. This scale included the most important aspects of the medical regimen, using nine discrete quantitative variables. The total score was described as the patient's Noncompliance Factor (NCF). The results were analysed by mean, ranks, and percentages. RESULTS: The sample was constituted of 61 participants who underwent surgical HT intervention and completed the 12-month follow-up assessment. The overall incidence of noncompliance was around 30% and only 43.1% of the recipients had an acceptable degree of compliance. CONCLUSIONS: The overall incidence of noncompliance in HT recipients is high and this can generate worse clinical outcomes. Evaluation by specific screening instruments like the one proposed in the present study can be useful for a systematic detection of this phenomenon.

Toward a comprehensive care of HIV patients: finding a strategy to detect depression in a Spanish HIV cohort.

Depression is a common but frequently undiagnosed feature in individuals with HIV infection. To find a strategy to detect depression in a non-specialized clinical setting, the overall performance of the Hospital Anxiety and Depression Scale (HADS) and the depression identification questions proposed by the European AIDS Clinical Society (EACS) guidelines were assessed in a descriptive cross-sectional study of 113 patients with HIV infection. The clinician asked the two screening questions that were proposed under the EACS guidelines and requested patients to complete the HADS. A psychiatrist or psychologist administered semi-structured clinical interviews to yield psychiatric diagnoses of depression (gold standard). A receiver operating characteristic (ROC) analysis for the HADS-Depression (HADS-D) subscale indicated that the best sensitivity and specificity were obtained between the cut-off points of 5 and 8, and the ROC curve for the HADS-Total (HADS-T) indicated that the best cut-off points were between 12 and 14. There were no statistically significant differences in the correlations of the EACS (considering positive responses to one [A] or both questions [B]), the HADS-D ≥ 8 or the HADS-T ≥ 12 with the gold standard. The study concludes that both approaches (the two EACS questions and the HADS-D subscale) are appropriate depression-screening methods in HIV population. We believe that using the EACS-B and the HADS-D subscale in a two-step approach allows for rapid, assumable and accurate clinical diagnosis in non-psychiatric hospital settings.

Decoy receptors block TRAIL sensitivity at a supracellular level: the role of stromal cells in controlling tumour TRAIL sensitivity.

Tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) is a death ligand cytokine known for its cytotoxic activity against malignantly transformed cells. TRAIL induces cell death through binding to death receptors DR4 and DR5. The inhibitory decoy receptors (DcR1 and DcR2) co-expressed with death receptor 4 (DR4)/DR5 on the same cell can block the transmission of the apoptotic signal. Here, we show that DcRs also regulate TRAIL sensitivity at a supracellular level and thus represent a mechanism by which the microenvironment can diminish tumour TRAIL sensitivity. Mathematical modelling and layered or spheroid stroma-extracellular matrix-tumour cultures were used to model the tumour microenvironment. By engineering TRAIL to escape binding by DcRs, we found that DcRs do not only act in a cell-autonomous or cis-regulatory manner, but also exert trans-cellular regulation originating from stromal cells and affect tumour cells, highlighting the potent inhibitory effect of DcRs in the tumour tissue and the necessity of selective targeting of the two death-inducing TRAIL receptors to maximise efficacy.

Arrestin2 modulates androgen receptor activation.

Androgen receptor (AR) has a pivotal role in the growth and survival of prostate cancer (PCa). Arrestin2 (Arr2) is a ubiquitous scaffolding/adaptor protein first characterized as a regulator of G protein-coupled receptor signaling. In this study, we report that Arr2 additionally functions as a positive regulator of AR expression and function in PCa cells. Expression level of Arr2 correlates with that of AR, and knockdown of Arr2 inhibits the expression of AR and its effectors prostate-specific antigen, transmembrane protease serine 2, FK506-binding protein 51 and fatty acid synthase. Mechanistically, the knockdown of Arr2 attenuates the binding of AR to androgen response elements and consequently decreases transcription of AR-regulated genes. The inhibition of AR by Arr2 knockdown occurs in both androgen-dependent and castration-resistant PCa (CRPC) cells, although the effect is more prominent in CRPC. Arr2 knockdown inhibits the in vitro CRPC cell proliferation, prostasphere growth and invasion, as well as the in vivo prostate tumor formation, local invasion and distant metastasis. These results illustrate a new role for Arr2 in the expression and activation of AR and its potential relevance as a target for therapeutic intervention and monitoring of disease progression.

Efecto de la dieta en psoriasis moderada a severa, en pacientes con sobrepeso y obesos con tratamiento tópico y sistémico con metotrexato / Effect of diet on moderate or severe psoriasis in patients with obese and overweight under treatment with topical and systemic methotrexate

INTRODUCTION: Psoriasis is a chronic inflammatory disease with significant impact on quality of life. There are environmental factors that can change the course of the disease. OBJECTIVE: To investigate whether moderate weight loss, improves response to methotrexate in obese or overweight patients who suffer from the disease. METHODOLOGY: A controlled pilot project of 8 weeks was performed in 15 patients with moderate to severe psoriasis under treatment with Methotrexate and topical therapy. The intervention corresponded to a nutritional assessment, a strict diet and physical activity suggestion. Patients were evaluated using PASI, at 0, 4 and 8 weeks. RESULTS: After 8 weeks, mean PASI decreased by 13% and a decrease in weight, BMI and waist circumference was achieved, but without statistical significance. CONCLUSION: Further studies are required to demonstrate the importance of weight loss in obese or overweight psoriatic patients under methotrexate treatment.

INTRODUCCIÓN: La Psoriasis es una enfermedad inflamatoria crónica con importante impacto en la calidad de vida.Existen factores ambientalesque pueden modificar el curso de la enfermedad. OBJETIVO: Investigar si una pérdida moderada de peso, aumenta la respuesta a Metotrexato en pacientes obesos o con sobrepeso que padecen la enfermedad. METODOLOGÍA: Proyecto Piloto, controlado, de 8 semanas en 15 pacientes con psoriasis moderada a severa,en tratamiento con Metotrexato y terapia tópica, atendidos en Santiago de Chile. La intervención correspondió a una evaluación nutricional, una dieta estricta y sugerencia de actividad física. Los pacientes fueron evaluadas con PASI, a las 0, 4 y 8 semanas. RESULTADOS: Después de 8 semanas, se logró una disminución del PASI promedio en un 13% y una disminución del peso, IMC y circunferencia abdominal, pero sin significancia estadística. CONCLUSIÓN: Se requieren realizar estudios con un mayor número de pacientes para demostrar la importancia de una disminución de peso en el tratamiento con metotrexato en pacientes psoriáticos obesos o con sobrepeso.

[The role of endothelial lipase in atherogenesis]. / Lipasa endotelial y su relación con la enfermedad cardiovascular y diabetes mellitus tipo 2.

Endothelial lipase (EL) is synthetized by endothelial cells and its main substrates are lipoprotein phospholipids. Over expression of EL reduces high density lipoprotein (HDL) cholesterol and phospholipids, in vivo and in vitro. Inhibition of the enzyme achieves the opposite effects. The synthesis of the enzyme is regulated by interleukin 1 and tumor necrosis factor a. These inflammatory cytokines play a role in diabetes and vascular disease. An increase in vascular mechanical forces, that play a role in atherogenesis, also increase the synthesis of EL. There is expression of EL in endothelial cells, macrophages and muscle cells of atherosclerotic lesions of coronary arteries of humans. This evidence leads to the suspicion that EL plays a role in atherogenesis. There are also higher plasma levels of EL in subjects with type 2 diabetes, who are especially susceptible to the development of vascular lesions. Therefore the inhibition of EL could play an important role in HDL metabolism and could be a new therapeutic strategy for the prevention of atherosclerosis.

Lipasa endotelial y su relación con la enfermedad cardiovascular y diabetes mellitus tipo 2 / The role of endothelial lipase in atherogenesis

Endothelial lipase (EL) is synthetized by endothelial cells and its main substrates are lipoprotein phospholipids. Over expression of EL reduces high density lipoprotein (HDL) cholesterol and phospholipids, in vivo and in vitro. Inhibition of the enzyme achieves the opposite effects. The synthesis of the enzyme is regulated by interleukin 1 and tumor necrosis factor a. These inflammatory cytokines play a role in diabetes and vascular disease. An increase in vascular mechanical forces, that play a role in atherogenesis, also increase the synthesis of EL. There is expression of EL in endothelial cells, macrophages and muscle cells of atherosclerotic lesions of coronary arteries of humans. This evidence leads to the suspicion that EL plays a role in atherogenesis. There are also higher plasma levels of EL in subjects with type 2 diabetes, who are especially susceptible to the development of vascular lesions. Therefore the inhibition of EL could play an important role in HDL metabolism and could be a new therapeutic strategy for the prevention of atherosclerosis.

Estudio transversal: evaluación de prevalencia de comorbilidades metabólicas y factores de riesgo cardiovascular, y su correlación con la severidad clínica, en 106 pacientes con psoriasis / Prevalence of metabolic comorbidities and cardiovascular risk factors in patients with psoriasis: cross-sectional study

Introducción: Diversos estudios epidemiológicos han demostrado que los pacientes con psoriasis presentan mayor mortalidad general, mortalidad cardiovascular (CV) e incidencia de infarto al miocardio que la población general. Esto se explican o sólo por la mayor prevalencia de factores de riesgo CV clásicos (obesidad, diabetes, hipertensión arterial, entre otros) en estos pacientes, sino que también la psoriasis constituye un factor de riesgo CV independiente en directa relación con su severidad, con mayor impacto en pacientes jóvenes. Objetivos: Evaluar la prevalencia de comorbilidades metabólicas y factores de riesgo CV en 106 pacientes con psoriasis, y su correlación su severidad clínica. Además de comparar dichas prevalencias con las reportadas por la Encuesta Nacional de Salud (ENS) 2010 para la población chilena. Material y método: Se realizó una evaluación antropométrica y una encuesta sobre antecedentes mórbidos y de la psoriasis a 106 pacientes. Se definieron dos grupos de severidad. Se compararon prevalencias entre los grupos de severidad, así como entre la muestra total y la población chilena. Posteriormente se realizó la comparación considerando exclusivamente al grupo etario de 25 a 64 años (84,8 por ciento, tanto para hombres y mujeres. También se compararon prevalencias entre el grupo de pacientes jóvenes con psoriasis severa y la ENS, siendo éste el grupo de mayor riesgo CV asociado a la psoriasis. Resultados: La muestra correspondió a 106 pacientes, 47 mujeres y 59 hombres, con edad media de 43,5 +/- 14 años. La mitad presentó sobrepeso, un 26 por ciento peso normal y un 34 por ciento obesidad, con IMC promedio de 27,8 kg/m2 y gran prevalencia de comorbilidades metabólicas y factores de riesgo CV, siendo los más frecuentes el tabaquismo (41 por ciento) y la hipertensión arterial...

Background: Epidemiologic studies have demonstrated that patients with psoriasis have an increased risk of mortality, cardiovascular (CV) mortality and myocardial infarction, than general population. Some explanation for this is related to an increased incidence of classical CV risk factors (e.g: obesity, diabetes, blood hypertension) on psoriasis patients. Additionally, psoriasis itself is considered as an independent CV risk factor, directly related to its severity and with higher impact on young patients. Objective: To determinate the prevalence of metabolic comorbidities and CV risk factors in patients with psoriasis, and its correlation with the severity of the psoriasis. To compare such prevalence with those reported by the national health database for Chilean population developed in 2010. Materials and Methods: An observational and analytic study was conduced at the Dermatology Department of the Pontificia Universidad Católica de Chile. Patients with psoriasis were evaluated and classified as having as severity in two groups. The prevalence of metabolic comorbidities was determined, comparing outcomes among patients with mild and severe psoriasis and between all psoriasis patients and Chilean population. Results: One hundred and six patients with psoriasis were included in the study. The mean (SD) age was 43.5 (14) years and 55.6 percent were male. Overweight was present on half of the patients, normal weight was present on 26 percent, and obesity was present on 34 percent. Mean body mass index (IMC) was 27.8kg/m2. The most frequent CV risk factor was tabaquism (41 percent), followed by blood hypertension (22.6 percent). The group with severe psoriasis presented higher prevalence of obesity (31.6 vs.13 percent, p=0.02) and abdominal obesity (86.7 vs. 76 percent, p=0.04),that the group with mild psoriasis...

Hipertrigliceridemias de origen genético / Hypertriglyceridemias of genetic origen

Hypertriglyceridemia (HTG) is defined as plasma triglycerides (TG) > 150 mg/dL, and it is a frequent disease in the general population. When plasma TG reach concentrations > 500 mg/dL (severe HTG), there is usually a genetic defect involved. This defect can involve a single gene or be of polygenic inheritance. In polygenic HTG, the phenotypic expression of the disease is usually associated to the presence of certain diseases such as diabetes, obesity or insulin resistance. The most common known genes associated with monogenic hypertriglyceridemia are LPL and APOC2, but in recent years a few cases caused by mutant APOA5, GPIHBP1 and LMF1, have been identified. Furthermore, genome wide association studies (GWA) have brought up new genes that are related to discrete changes in triglyceride plasma levels of the general population. Among them, it is worth mentioning GCKR, TRIB1, MLXIPL, GALNT2, APOB, APOC2, APOA5, APOE, LPL, ANGPTL3 and NCAN. It is remarkable that most severe hypertriglyceridemias are of polygenic origin, and they could involve a major susceptibility gene. Only in a few cases of severe or very severe HTG (TG > 2.000 mg/dL) the genetic cause is known.