Bacillary Layer Detachment in an Atypical Case of Central Serous Chorioretinopathy Associated with High Hyperopia.

A 16-year-old boy with elevated hyperopia presented to the office with a 24-h history of bilateral blurred vision, mainly of the left eye, and bilateral central serous chorioretinopathy. He showed a clinically recognizable bacillary layer detachment in one eye and excellent multimodal diagnostic image correlation, with the best-corrected visual acuity as 20/400. He had bilateral serous retinal detachment, as confirmed by optical coherence tomography. Laser photocoagulation was performed with good results, and reestablishment of the foveal anatomical structure was documented 16 days after treatment.

Eales' disease: epidemiology, diagnostic and therapeutic concepts.

BACKGROUND: To describe the epidemiological traits, clinical characteristics, diagnostic procedures, therapeutic interventions and evolution in a large series of patients with diagnosis of Eales' disease. METHODS: A clinical retrospective review of patients with Eales' disease, evaluated and treated between April 2009 and April 2018, with a 1-year minimum follow-up. Thirty patients (59 eyes), were included. Age, sex, laboratory results (CBC, glycemia, protein electrophoresis, ACE levels) immunological profile and a Quantiferon-TB Gold Plus test were recorded. The patients were divided into groups according to their evolution, medical or surgical treatment, and visual outcomes. RESULTS: Seventeen male patients and 13 female patients were included, and their ages ranged from 14 to 35 years. The Quantiferon-TB Gold Plus test was positive in 25 patients. Twenty-eight patients had unilateral vitreous hemorrhage, 10 of whom presented with vasculitis and non-perfusion areas in the contralateral eye, 9 presented contralateral peripheral neovascularization and 9 had contralateral fibrovascular proliferation. The remaining 2 patients presented with a rhegmatogenous retinal detachment. In 6 patients, conservative treatment with intravitreal anti-VEGF injections and photocoagulation was performed after the hemorrhage cleared. Twenty-two patients, required vitrectomy, with good visual outcomes. Macular edema was found in 16 eyes, which responded to periocular and/or systemic corticosteroid therapy, except for 9 eyes that required intravitreal bevacizumab, with complete resolution in 7 eyes and partial resolution in 2 eyes. CONCLUSIONS: Eales' disease is a pathology of significant prevalence in our country. The distribution according to sex, tends to be equivalent. The etiology, even when it is not specifically determined, according to laboratory tests, confirms the probable immunologic response in the presence of Mycobacterium tuberculosis antigens. This is still a diagnosis of exclusion, and therefore, it is advisable to perform a complete laboratory work-up in each case. Timely application of laser and other medical treatments, help to avoid progression to more advanced stages and their complications. The surgical treatment of vitrectomy for vitreous hemorrhage, and/or tractional vitreous detachment yields good primary anatomical and functional outcomes. Secondary macular edema responds to periocular and intravitreal corticosteroids, and in refractory cases, the use of anti-VEGF therapy leads to an effective resolution.

Bilaminar Graft of the Anterior Capsule and Internal Limiting Membrane: A Novel Surgical Technique for the Treatment of Macular Hole and Focal Macular Detachment Associated with High Myopia and Posterior Staphyloma.

This case report describes a novel surgical technique for the treatment of macular hole and focal macular detachment associated with high myopia and posterior staphyloma. A 65-year-old female presented with a stage 3C myopic traction maculopathy and VA of 20/600. OCT examination confirmed a macular hole of 958 µm diameter, posterior staphyloma, and macular detachment. We performed combined phacoemulsification surgery with 23G pars plana vitrectomy; the anterior capsule was preserved and divided into two equal circular laminar flaps. We proceeded with central and peripheral vitrectomy, brilliant blue staining, and partial ILM peeling; capsular sheets were introduced sequentially in the vitreous chamber, the first one was implanted below the hole and attached to pigment epithelium, the second lamina was inserted into the hole, and the remaining portion of ILM was implanted crosswise below the edges of the hole. Macular-hole closure and progressive reapplication of the macular detachment were obtained, with a final VA of 20/80. Treatment of macular holes and focal macular detachment in high myopic eyes is complex, even for experienced surgeons. We propose a new technique with additional mechanisms based on anterior lens capsule and internal limiting membrane tissue properties that showed functional and anatomical improvement and could be considered an alternative treatment.

Role of B Cell Profile for Predicting Secondary Autoimmunity in Patients Treated With Alemtuzumab.

Objective: To explore if baseline blood lymphocyte profile could identify relapsing remitting multiple sclerosis (RRMS) patients at higher risk of developing secondary autoimmune adverse events (AIAEs) after alemtuzumab treatment. Methods: Multicenter prospective study including 57 RRMS patients treated with alemtuzumab followed for 3.25 [3.5-4.21] years, (median [interquartile range]). Blood samples were collected at baseline, and leukocyte subsets determined by flow cytometry. We had additional samples one year after the first cycle of alemtuzumab treatment in 39 cases. Results: Twenty-two patients (38.6%) developed AIAEs during follow-up. They had higher B-cell percentages at baseline (p=0.0014), being differences mainly due to plasmablasts/plasma cells (PB/PC, p=0.0011). Those with no AIAEs had higher percentages of CD4+ T cells (p=0.013), mainly due to terminally differentiated (TD) (p=0.034) and effector memory (EM) (p=0.031) phenotypes. AIAEs- patients also showed higher values of TNF-alpha-producing CD8+ T cells (p=0.029). The percentage of PB/PC was the best variable to differentiate both groups of patients. Baseline values >0.10% closely associated with higher AIAE risk (Odds ratio [OR]: 5.91, 95% CI: 1.83-19.10, p=0.004). When excluding the 12 patients with natalizumab, which decreases blood PB/PC percentages, being the last treatment before alemtuzumab, baseline PB/PC >0.1% even predicted more accurately the risk of AIAEs (OR: 11.67, 95% CI: 2.62-51.89, p=0.0007). The AIAEs+ group continued having high percentages of PB/PC after a year of alemtuzumab treatment (p=0.0058). Conclusions: A PB/PC percentage <0.1% at baseline identifies MS patients at low risk of secondary autoimmunity during alemtuzumab treatment.​.

Identification of the Immunological Changes Appearing in the CSF During the Early Immunosenescence Process Occurring in Multiple Sclerosis.

Patients with multiple sclerosis (MS) suffer with age an early immunosenescence process, which influence the treatment response and increase the risk of infections. We explored whether lipid-specific oligoclonal IgM bands (LS-OCMB) associated with highly inflammatory MS modify the immunological profile induced by age in MS. This cross-sectional study included 263 MS patients who were classified according to the presence (M+, n=72) and absence (M-, n=191) of LS-OCMB. CSF cellular subsets and molecules implicated in immunosenescence were explored. In M- patients, aging induced remarkable decreases in absolute CSF counts of CD4+ and CD8+ T lymphocytes, including Th1 and Th17 cells, and of B cells, including those secreting TNF-alpha. It also increased serum anti-CMV IgG antibody titers (indicative of immunosenescence) and CSF CHI3L1 levels (related to astrocyte activation). In contrast, M+ patients showed an age-associated increase of TIM-3 (a biomarker of T cell exhaustion) and increased values of CHI3L1, independently of age. Finally, in both groups, age induced an increase in CSF levels of PD-L1 (an inductor of T cell tolerance) and activin A (part of the senescence-associated secretome and related to inflammaging). These changes were independent of the disease duration. Finally, this resulted in augmented disability. In summary, all MS patients experience with age a modest induction of T-cell tolerance and an activation of the innate immunity, resulting in increased disability. Additionally, M- patients show clear decreases in CSF lymphocyte numbers, which could increase the risk of infections. Thus, age and immunological status are important for tailoring effective therapies in MS.

The age again in the eye of the COVID-19 storm: evidence-based decision making.

BACKGROUND: One hundred fifty million contagions, more than 3 million deaths and little more than 1 year of COVID-19 have changed our lives and our health management systems forever. Ageing is known to be one of the significant determinants for COVID-19 severity. Two main reasons underlie this: immunosenescence and age correlation with main COVID-19 comorbidities such as hypertension or dyslipidaemia. This study has two aims. The first is to obtain cut-off points for laboratory parameters that can help us in clinical decision-making. The second one is to analyse the effect of pandemic lockdown on epidemiological, clinical, and laboratory parameters concerning the severity of the COVID-19. For these purposes, 257 of SARSCoV2 inpatients during pandemic confinement were included in this study. Moreover, 584 case records from a previously analysed series, were compared with the present study data. RESULTS: Concerning the characteristics of lockdown series, mild cases accounted for 14.4, 54.1% were moderate and 31.5%, severe. There were 32.5% of home contagions, 26.3% community transmissions, 22.5% nursing home contagions, and 8.8% corresponding to frontline worker contagions regarding epidemiological features. Age > 60 and male sex are hereby confirmed as severity determinants. Equally, higher severity was significantly associated with higher IL6, CRP, ferritin, LDH, and leukocyte counts, and a lower percentage of lymphocyte, CD4 and CD8 count. Comparing this cohort with a previous 584-cases series, mild cases were less than those analysed in the first moment of the pandemic and dyslipidaemia became more frequent than before. IL-6, CRP and LDH values above 69 pg/mL, 97 mg/L and 328 U/L respectively, as well as a CD4 T-cell count below 535 cells/µL, were the best cut-offs predicting severity since these parameters offered reliable areas under the curve. CONCLUSION: Age and sex together with selected laboratory parameters on admission can help us predict COVID-19 severity and, therefore, make clinical and resource management decisions. Demographic features associated with lockdown might affect the homogeneity of the data and the robustness of the results.

Evolution of antibody titres against Epstein-Barr virus and human herpesvirus 6A/B and expression of multiple sclerosis-associated retrovirus in the serum of pregnant multiple sclerosis patients.

Epstein-Barr virus (EBV), human herpesvirus 6A/B (HHV-6A/B) and multiple sclerosis (MS)-associated retrovirus (MSRV) have been described as possible MS triggers. We analysed antibody titres against EBV and HHV-6, and MSRV envelope (env) mRNA expression, in the serum of pregnant multiple sclerosis patients (P-MS) to study their possible link to the clinical activity of MS during pregnancy and postpartum and their possible role as relapse predictors. For that purpose, serum samples were collected from 71 pregnant women (50 pregnant MS and 21 pregnant healthy controls-P-HC) during pregnancy and postpartum. Relating to antibody titres, IgM antibody titres against HHV-6A/B were significantly higher in P-MS than in P-HC both in each pregnancy trimester and in the postpartum period. Moreover, IgM antibody titres against HHV-6A/B were higher in P-MS who suffered a relapse during the postpartum. Regarding MSRV env mRNA expression, the prevalence in the first trimester of pregnancy was significantly higher in P-MS who suffered relapses during pregnancy. Summing it up, high IgM antibody titres against HHV-6A/B and MSRV env mRNA expression during the first trimester of pregnancy could act as relapse predictors for the gestation/postpartum periods.

Low serum neurofilament light chain values identify optimal responders to dimethyl fumarate in multiple sclerosis treatment.

Serum neurofilament light chains (sNfL) are biomarkers of disease activity in multiple sclerosis (MS), but their value to predict response to treatment, and their association with patient immunological profile, need to be further explored. We studied 80 relapsing-remitting MS patients initiating dimethyl fumarate (DMF) treatment. sNfL levels were explored at baseline and at 3, 6 and 12 months by single molecule array. Blood lymphocyte subsets were measured at baseline and at 6 months by flow cytometry. Patients were followed a year and classified as NEDA (no evidence of disease activity) or ODA (ongoing disease activity). NEDA patients had lower sNfL levels at baseline (p = 0.0001), and after three (p = 0.004) and six (p = 0.03) months of DMF treatment. Consequently, low baseline sNfL values (≤ 12 pg/ml) increased the probability of NEDA (OR 5.8; CI 1.82-15.6; p = 0.002, after correcting by disease activity in the previous year), and associated with significant reductions of central memory CD4+ T lymphocytes, interferon-gamma+ CD8+ T lymphocytes, Natural Killer T cells, and memory B cells upon DMF treatment, being the highest differences in memory B cells (p < 0.0001). This shows that low baseline sNfL values identify MS patients with higher probability of optimal response to DMF and of a reduction in effector immune cells.

Acetate correlates with disability and immune response in multiple sclerosis.

BACKGROUND: Gut microbiota has been related to multiple sclerosis (MS) etiopathogenesis. Short-chain fatty acids (SCFA) are compounds derived from microbial metabolism that have a role in gut-brain axis. OBJECTIVES: To analyse SCFA levels in plasma of MS patients and healthy donors (HD), and the possible link between these levels and both clinical data and immune cell populations. METHODS: Ninety-five MS patients and 54 HD were recruited. Patients were selected according to their score in the Expanded Disability Status Scale (EDSS) (49 EDSS ≤ 1.5, 46 EDSS ≥ 5.0). SCFA were studied in plasma samples by liquid chromatography-mass spectrometry. Peripheral blood mononuclear cells were studied by flow cytometry. Gender, age, treatments, EDSS and Multiple Sclerosis Severity Score (MSSS) were evaluated at the recruitment. RESULTS: Plasma acetate levels were higher in patients than in HD (p = 0.003). Patients with EDSS ≥ 5.0 had higher acetate levels than those with EDSS≤ 1.5 (p = 0.029), and HD (p = 2.97e-4). Acetate levels correlated with EDSS (r = 0.387; p = 1.08e-4) and MSSS (r = 0.265; p = 0.011). In untreated MS patients, acetate levels correlated inversely with CD4+ naïve T cells (r =  - 0.550, p = 0.001) and directly with CD8+ IL-17+ cells (r = 0.557; p = 0.001). CONCLUSIONS: Plasma acetate levels are higher in MS patients than in HD. In MS there exists a correlation between plasma acetate levels, EDSS and increased IL-17+ T cells. Future studies will elucidate the role of SCFA in the disease.

COVID-19: age, Interleukin-6, C-reactive protein, and lymphocytes as key clues from a multicentre retrospective study.

BACKGROUND: The SARS-CoV-2 infection has widely spread to become the greatest public health challenge to date, the COVID-19 pandemic. Different fatality rates among countries are probably due to non-standardized records being carried out by local health authorities. The Spanish case-fatality rate is 11.22%, far higher than those reported in Asia or by other European countries. A multicentre retrospective study of demographic, clinical, laboratory and immunological features of 584 Spanish COVID-19 hospitalized patients and their outcomes was performed. The use of renin-angiotensin system blockers was also analysed as a risk factor. RESULTS: In this study, 27.4% of cases presented a mild course, 42.1% a moderate one and for 30.5% of cases, the course was severe. Ages ranged from 18 to 98 (average 63). Almost 60 % (59.8%) of patients were male. Interleukin 6 was higher as severity increased. On the other hand, CD8 lymphocyte count was significantly lower as severity grew and subpopulations CD4, CD8, CD19, and NK showed concordant lowering trends. Severity-related natural killer percent descents were evidenced just within aged cases. A significant severity-related decrease of CD4 lymphocytes was found in males. The use of angiotensin-converting enzyme inhibitors was associated with a better prognosis. The angiotensin II receptor blocker use was associated with a more severe course. CONCLUSIONS: Age and age-related comorbidities, such as dyslipidaemia, hypertension or diabetes, determined more frequent severe forms of the disease in this study than in previous literature cohorts. Our cases are older than those so far reported and the clinical course of the disease is found to be impaired by age. Immunosenescence might be therefore a suitable explanation for the hampering of immune system effectors. The adaptive immunity would become exhausted and a strong but ineffective and almost deleterious innate response would account for COVID-19 severity. Angiotensin-converting enzyme inhibitors used by hypertensive patients have a protective effect in regards to COVID-19 severity in our series. Conversely, patients on angiotensin II receptor blockers showed a severer disease.

Hamartoma perineal congénito con malformación genital y anorrectal, asociado a alteración genética: duplicidad del gen TGIF2LX / Congenital perineal hamartoma with genital and anorectal malformation associated with genetic alteraction: duplicity of the TGIF2LX gene

Se presenta el caso de una gestante de 29 años, en la que en la ecografía de la semana 20 se evidencia un varón con genitales externos ambiguos, sospecha de hipospadias y una masa perineal, con el resto de hallazgos normales. La amniocentesis informa de cariotipo 46 XY normal y microarray CGH con duplicidad del gen TGIF2LX, cuya expresión es testicular y su función parece relacionada con la espermatogénesis, y también duplicidad de su gen homólogo TGIF2LY, cuya significación es desconocida. El seguimiento prenatal es normal, con persistencia de la alteración en genitales externos. Al nacimiento se detecta hipospadias con meato en linea media, escroto bífido y masa de consistencia blanda de 4 cm con apéndice cutáneo, asociado a fístula rectoperineal. Las pruebas de imagen indican que se trata de una masa perineal exófitica de 2,2 x 4 cm, de apariencia grasa con nódulo sólido de 1,4 cm en su interior, que podría corresponder a tumor de estirpe grasa de aspecto benigno. Intervenido para resección de la masa a los 11 días de vida, anorrectoplastia posterior y localización de neoano mediante neuroestimulación. El diagnóstico anatomopatológico es hamartoma perineal congénito, con músculo liso, cartílago maduro y tejido adiposo, sin evidencia de malignidad. El postoperatorio precisa de dilataciones anales hasta conseguir defecación espontánea, pero en general es normoevolutivo. El hamartoma perineal congénito es un tumor raro y casi siempre aparece asociado a alguna malformación genital o anorrectal, pero no hay publicaciones que describan correlación con alteraciones genéticas, como podría ser nuestro caso

We present the case of a 29 years old patient, in which the ultrasound of week 20 shows a male with ambiguous external genitals, suspected hypospadias and a perineal mass, with the rest of normal findings. Amniocentesis reports normal 46 XY karyotype and CGH microarray with duplicity of the TGIF2LX gene, whose expression is testicular and its function seems related to spermatogenesis, and also duplicity of its homologous gene TGIF2LY, whose significance is unknown. The prenatal follow-up is normal, with persistence of the alteration in external genitals. At birth, hypospadias was detected with a midline meatus, bifid scrotum, and a soft consistency mass of 4 cm with cutaneous appendage, associated with rectoperineal fistula. The imaging tests indicate an exophytic perineal mass of 2.2 x 4 cm, with a greasy appearance and a solid nodule measuring 1.4 cm inside, which could correspond to a benign-looking fat line tumor. Intervened for resection of the mass at 11 days of life, posterior anoreplasty and neoano localization by neurostimulation. The anatomopathological diagnosis is congenital perineal hamartoma, with smooth muscle, mature cartilage and adipose tissue, without evidence of malignancy. The postoperative period requires anal dilations until spontaneous defecation, but in general it is normal. The congenital perineal hamartoma is a rare tumor and almost always appears associated with some genital or anorectal malformation, but there are not publications that describe correlation with genetic alterations, how could our case be

Teriflunomide induces a tolerogenic bias in blood immune cells of MS patients.

Objectives: Teriflunomide, a disease-modifying treatment approved for multiple sclerosis (MS), inhibits reversibly dihydroorotate dehydrogenase, an enzyme involved in de novo pyrimidine biosynthesis and down-regulates proliferation of activated lymphocytes. We aimed to study the impact of this drug in the lymphocyte profiles of MS patients. Methods: Fifty-five patients with relapsing-remitting MS who initiated teriflunomide treatment were included in the study. We studied peripheral blood mononuclear cells obtained before and 6 months after treatment initiation and explored effector, memory, and regulatory cells by flow cytometry. Wilcoxon matched pair tests were used to assess differences between basal and 6 months after treatment results. P-values were corrected with Bonferroni test. Results: When explored T and B cell subsets, we observed a decrease in the percentages of terminally differentiated CD4+ T cells (P = 0.001) and plasmablasts (P < 0.0001) after 6 months of treatment. These results were confirmed with the total cell number. When studied immunomodulatory cells, we observed a clear increase of monocytes expressing programmed death-ligand 1 (PD-L1) (P = 0.005), which correlated negatively with all effector CD8+ T cell subsets. We also observed an increase in the percentage of CD8+ T cells (P = 0.028) and monocytes (P = 0.04) producing IL-10. Conclusions: Teriflunomide induces a specific reduction in effector T and B cells that have shown to play a role in MS course and an increase in immunomodulatory cells. Particularly, this drug induces the expression of PD-L1, a molecule involved in tolerance to autoantigens, which can contribute to inhibit the abnormal immune response taking place in MS.

Factors associated with dimethyl fumarate-induced lymphopenia.

BACKGROUND: Lymphopenia is a major concern in MS patients treated with dimethyl-fumarate (DMF) as it increases the risk of progressive multifocal leukoencephalopathy. OBJECTIVE: To identify factors associated with lymphopenia in DMF-treated patients and explore changes in blood lymphocyte subsets associated with DMF-induced lymphopenia. METHODS: Prospective longitudinal study including 106 patients initiating DMF treatment followed for a median time of 24.67 months. Blood lymphocyte subsets were studied in 64 patients by flow cytometry at baseline and 6 months after. RESULTS: Mean absolute lymphocyte counts (ALCs) decreased by 29% during the first year of DMF-treatment. Patients developing lymphopenia showed a faster decline within the three first months. A reduction of ALCs higher than 38% at this time was associated to subsequent development of grade 2-3 lymphopenia (OR = 5.93, 95% CI: 1.9-18.6, p = 0.002). All patients showed a significant decrease in different T and B lymphocyte subsets upon DMF therapy. In addition, lymphopenic patients experienced a selective decrease in natural killer T (NKT) cell percentages (p = 0.01), and a high drop in NKT total counts (p < 0.0001). CONCLUSIONS: Patients who experience a drop in ALCs by >38% at three months of DMF-treatment are about 6-times more likely to develop significant lymphopenia. This decrease is clearly associated with a considerable loss of NKT cells.

Circulating EZH2-positive T cells are decreased in multiple sclerosis patients.

BACKGROUND: Recent studies in experimental autoimmune encephalomyelitis, an animal model of multiple sclerosis (MS), suggest an involvement of the histone methyltransferase enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) in important processes such as cell adhesion and migration. METHODS: Here, we aimed to expand these initial observations by investigating the role of EZH2 in MS. mRNA expression levels for EZH2 were measured by real-time PCR in peripheral blood mononuclear cells (PBMC) from 121 MS patients (62 untreated and 59 receiving treatment) and 24 healthy controls. RESULTS: EZH2 expression levels were decreased in PBMC from untreated patients compared to that from controls, and treatment significantly upregulated EZH2 expression. Expression of miR-124 was increased in MS patients compared to controls. Blood immunophenotyping revealed EZH2 expression mostly restricted to CD4+ and CD8+ T cells, and circulating EZH2+ CD4+ and CD8+ T cells were decreased in untreated MS patients compared to controls. CD8+ T cells expressing EZH2 exhibited a predominant central memory phenotype, whereas EZH2+ CD4+ T cells were of effector memory nature, and both T cell subsets produced TNF-α. EZH2+ T cells were enriched in the cerebrospinal fluid compartment compared to blood and were found in chronic active lesions from MS patients. EZH2 inhibition and microarray analysis in PBMC was associated with significant downregulation of key T cell adhesion molecules. CONCLUSION: These findings suggest a role of EZH2 in the migration of T cells in MS patients. The observation of TNF-α expression by CD4+ and CD8+ T cells expressing EZH2 warrants additional studies to explore more in depth the pathogenic potential of EZH2+-positive cells in MS.

Optimal response to dimethyl fumarate associates in MS with a shift from an inflammatory to a tolerogenic blood cell profile.

BACKGROUND: The precise mechanism of action of dimethyl fumarate (DMF) treatment in MS remains unknown. OBJECTIVE: To identify the changes in the blood lymphocyte profile of MS patients predicting no evidence of disease activity (NEDA) status after DMF treatment. METHODS: We studied blood lymphocyte subsets of 64 MS patients treated with DMF at baseline and after 6 months of treatment by flow cytometry. NEDA (41 patients) or ongoing disease activity (ODA, 23 patients) were monitored after a year of follow-up. RESULTS: During treatment, all patients experienced an increase in the naive T cells and a decrease in effector memory ones. However, only NEDA patients showed a significant reduction in central memory CD4+ and CD8+ T cells, memory B cells, CD4+ T cells producing interferon (IFN)-gamma, CD8+ T cells producing tumor necrosis factor-alpha (TNF-alpha), and IFN-gamma and B cells producing TNF-alpha. Additionally, they had an increase in regulatory CD56bright cells not observed in ODA group. After treatment, there was a negative correlation between CD56bright cells and CD8+ T cells producing IFN-gamma and TNF-alpha. CONCLUSION: A pro-tolerogenic shift in the blood leukocyte profile associates with an optimal response to DMF in MS.

Marcadores pronósticos en pacientes con gammapatía monoclonal de significado incierto / Prognostic markers in patients with monoclonal gammopathy of undetermined significance

Objetivo: El estudio de biomarcadores pronósticos en gammapatías monoclonales de significado incierto (MGUS) exige usar cohortes muy grandes y seguimientos prolongados, dada la baja tasa de conversión a mieloma múltiple (MM). Nuestro objetivo fue poner a punto un modelo que permita usar con alta fiabilidad cohortes menores y seguimientos más reducidos. Pacientes y métodos Estudiamos 64 pacientes con MGUS, seguidos prospectivamente durante 6 ± 0,24 años. Los clasificamos en fenotipo evolving y non-evolving dependiendo del aumento o no de los niveles de inmunoglobulina monoclonal a lo largo del tiempo. Evaluamos el riesgo de conversión a MM en función de estos fenotipos y si los factores que predicen la conversión a MM se asocian con la aparición de un fenotipo evolving. Resultados Once pacientes mostraron fenotipo evolving y 53 fenotipo non-evolving. Todos los pacientes que convirtieron a MM mostraron previamente un fenotipo evolving (p = 0,003). Al diagnóstico el fenotipo evolving se asoció con proteínas monoclonales de isotipo IgA (27 vs. 9%), niveles de IgG monoclonal superiores a 1.500 mg/dl (p = 0,007, OR 9,8) y cocientes kappa/lambda alterados (p = 0,001, OR 11,7).Conclusiones Los factores de riesgo de desarrollar un fenotipo evolving en pacientes con MGUS coinciden con los que ya se han descrito para el desarrollo de MM. Estos datos muestran la validez del modelo evolving/non-evolving para estudiar marcadores que predigan la evolución de pacientes con MGUS, y confirman el papel de los niveles de inmunoglobulina monoclonal y la ratio de cadenas ligeras en el pronóstico de esta enfermedad (AU)

Objective: The assessment of prognostic biomarkers in monoclonal gammopathies of uncertain significance (MGUS) requires using large cohorts and long follow-ups, due to the low rate of conversion to multiple myeloma (MM). The aim of this article is to develop a model that allows smaller cohorts and shorter follow-ups to be used with high reliability. Patients and methods: A total of 64 MGUS patients were studied and followed-up prospectively for 6 ± 0.24 years. Patients were classified as evolving or non-evolving, depending on whether the monoclonal protein levels increased or not over time. The risk of conversion to MM was tested based on these phenotypes, and whether the factors that predict conversion to MM are also associated with the appearance of an evolving phenotype. Results: Eleven patients showed an evolving phenotype, and 53 a non-evolving one. All patients who converted to MM previously showed evolving phenotype (P = .003). At diagnosis, evolving phenotype associated with monoclonal gammopathies of IgA isotype (27 vs. 9%), monoclonal IgG levels above 1,500mg/dl (P = .007, OR 9.8) and altered kappa/lambda ratios (P = .001,OR 11.7).Conclusions: Risk factors for developing an evolving phenotype in MGUS patients are the same as those already described for the development of MM. These data show the validity of the evolving/non-evolving model to study markers to predict the outcome of MGUS patients, and confirm the role of the levels of monoclonal IgG and the light chains ratio in the prognosis of this disease (AU)

Evaluación del estado nutricional en pacientes pre-operatorios del servicio de cirugía general de un hospital nacional / Evaluation of nutritional status in patients pre operatory the general surgery service of the national hospital

El objeto de la presente investigación fue determinar el estado nutricional preoperatorio en pacientes del Servicio de Cirugía General de un hospital local, durante el 01 de Abril al 30 de Junio del 2005. El estudio fue de tipo descriptivo, diseño no experimental de corte transversal. La muestra fue determinada mediante un diseño muestral no Probabilístico, de tipo aleatorio simple y estuvo constituida por 123 pacientes, atendidos en el Servicio de Cirugía General, con edades comprendidas entre los 18 a 85 años. Los datos se copilaron mediante la técnica observacional usando un formulario "Ad Hoc", se procesaron haciendo uso del Programa Estadístico SPSS Versión 12 y el programa Microsoft Excel 2003, elaborando posteriormente, tablas de distribución de frecuencias unidimensional y bidimensional, gráficos. Se encontró malnutrición en el 38,2 por ciento de los pacientes según los niveles de albúmina, 48,8 por ciento fue obeso según el Indice de Masa corporal (IRN). Concluimos que los pacientes internos en la Sala de Cirugía Genefral presentan elevados índices de malnutrición y riesgo nuticional, recomendándose la implementación de un sistema de vigilancia nutricional, que brinde soporte nutricional, que brinde soporte nutricional a los pacientes con malnutrición internos en el Servicio de Cirugía General.

The objective of the present research was determine the nutritional status on the patients pre operatory at the General Surgery Service of the National Hospital. This research took place from April 1st to June 30th, 2005. This is a descriptive study, and transversal non experimental design. It was 123 hospitalized patients attended at the General Surgery Service. Data for 10-80 years old patients were compiled through the observational technique using an "Ad HOc" form. They were processed with SPSS statistical program 12 versions and Microsoft Excel 2003, elaborating one-dimensional and bi-dimensional frequency distribution tables, graphics and a contrast tes of corresponding hypothesis. Any level of desnutrition was found in 38.2 per cent according to de album in level, 48.8 per cent malnourished by excess energy according to Body Mass Index (BMI) and 78.0 per cent were at mild to moderate nutritional is according to the Nutritional Risk Index (NRI). We concluded the patients at the General Surgery Service have a malnourished and nutritional risk according, for this population, recommending the nutritional surveillance system implementation nutritional support at patients with malnutrition before surgical.

Evaluación del estado nutricional y composición corporal en niños de 6 a 9 años de edad en zonas rurales del Cusco que reciben un complemento alimentario / evaluation of nutritional status and body composition in children aged 6 - 9 years old, from rural areas of Cusco, who receive food supplements

La presente investigación tuvo como objetivo determinar el estado nutricional y composición corporal por antropometría, así como determinar la adecuación a los requerimientos de energía y nutrientes de la dieta familiar y de un complemento alimentario en una población escolar de 6 y 9 años de edad, residente en las localidades de Lucre, Huasao y Conchacalla del departamento del Cusco (Perú). Se estudió una sub-muestra representativa de 70 niños (34 varones y 36 mujeres), beneficiarios del PAE del gobierno Central. Las variables de composición corporal estudiadas fueron el área grasa y el área muscular del brazo, el estado nutricional se determinó mediante la combinación de los indicadores peso / talla, talla/ edad y peso/edad. Asimismo, se calculó la ingesta de energía y de nutrientes de la dieta familiar del niño y el consumo de alimentos. Los resultados indicaron que el 43% de la población total estudiada presentó desnutrición crónica (-2 DS de la National Center for Health Statisrtics NCHS) no encontrándose diferencias significativa con el transcurso del tiempo. El 55,9% de los niños y el 63,9% de las niñas presentaron déficit de reserva energética. Asimismo, el porcentaje de déficit de área muscular en varones se incrementó con el transcurso de tiempo de 20,6% al 23,5% no observándose diferencias significativas. Los nutrientes ingeridos en la primera evaluación de estudio fueron significativamente mayores a los ingeridos en la segunda evaluación (p<0,05) observándose una deficiencia marcada en la ingesta de grasa y zinc. Se concluye que existe una elevada prevalencia de retardo en el crecimiento en la totalidad de la población evaluada y una reducción del consumo de energía diaria de 1.679 calorías a 1.168 calorías durante el periodo de evaluación, constituyendo las grasas la mayor carencia. Se recomienda complementar los indicadores tradicionales de evaluación nutricional con el uso de estimadores de composición corporal de área grasa y muscular.

The main objective of this study was to evaluate and estimate the nutritional status and body composition by anthropometrics, as well as to determine the adequacy to energy and nutrient requirements in a daily diet, and of food supplements in school students aged from 6 to 9 years old, located in Lucre, Huasao and Conchacalla, Cusco – Peru. Twenty-four-hour recall and food frequency methods were applied two different times on a sample of 70 children (34 boys and 36 girls), receiving a complementary breakfast provided by the PAE program. The measurement variables for body composition were muscular and fat parts of mid-upper arm. Nutritional status was based on weight / age, weight / height, and height / age indicators. The results showed a growth retardation of 43%, but no significant differences were found over the time. Also, 55,9% of boys and 63,9% of girls showed energy reserve deficiency. Likewise, the percentage of muscular mass in boys decreased over the time by 3%, but no statistically greater compared to the second evaluation (p<0,05), showing a marked deficiency in fat and zinc intake. In conclusion, there is a high prevalence of growth retardation on the evaluated population and the intake of energy was reduced from 1679 kcal/ day to 1168 kcal/ day, showing a marked deficiency in fat intake. It is recommended that traditional indicators of nutritional evaluation be complemented with the body composition variables (muscular and fat mass).

Uso de pericardio bovino para la corrección de cardiopatías congénitas / Use of bovine pericardium for correcting congenital cardiopathies

El parche de pericardio bovino se ha utilizado como una alternativa para diferentes patologías quirúrgicas, entre las que se incluyen las malformaciones cardiacas congénitas. Pese a ello, hay pocos artículos que reportan la experiencia con este tipo parche. El objetivo de este estudio es evaluar la experiencia con el uso de pericardio bovino para la reconstrucción de cardiopatías en la Clínica Cardiovascular Santa María, desde 1994.Materiales y métodos: se sometieron 520 pacientes a un procedimiento quirúrgico correctivo o paliativo de alguna cardiopatía congénita en la que se utilizó el parche de pericardio bovino. De éstos, 163 tenían un seguimiento de por lo menos dos años. Se evaluó la localización del parche, el tipo de procedimientos, la supervivencia, las calcificaciones, los aneurismas y las fugas. Así mismo, se evaluó la clase funcional y se comparó la supervivencia de los pacientes de acuerdo con la localización y el tipo de parche.

Bovine pericardial patch has been utilized as an alternative for different surgical pathologies, including congenital heart malformations. Nevertheless, there are only few articles that report the experience with this kind of patch. The objective of this study is to evaluate the experience with the use of bovine pericardium for the reconstruction of cardiopathies in the Santa Maria Cardiovascular Clinic Medellín since 1994. Materials and methods: 520 patients underwent a corrective or palliative surgical procedure of a congenital heart disease in which the bovine pericardial patch was utilized. 163 of these patients had at least two years follow-up. The localization of the patch, as well as the kind of procedures, the survival, calcifications, aneurysms and leaks, were evaluated. The functional class was evaluated as well and the patients’ survival was compared according to the localization and the kind of patch. Results: 520 procedures were realized using the bovine pericardial patch. Prevalent malformations were septal defects (58%) followed by the tetralogy of Fallot (16%).The patch was also used in total or partial anomalous venous connections, and pulmonary atresia among others. 50.9% was localized in a systemic way and 49.7% in the pulmonary circulation. According to the localization, 50.3% were intracardiac and 49.7% extracardiac. Two leaks, two bleedings and three re-interventions were reported during the implantation. During the follow-up only three leaks were reported. Global survival was 95%. There were no significant differences in survival with intra or extracardiac patches or in those that supported pulmonary or systemic circulation. No calcifications were reported. 95% of patients were in functional class I or II, and the rest in III and IV.Conclusions: bovine pericardial patch is a useful tool for the correction of congenital heart diseases. Tissue characteristics offer advantages to the surgeon, such as the easy molding...