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1.
J Assoc Genet Technol ; 49(2): 88-92, 2023.
Article in English | MEDLINE | ID: mdl-37269293

ABSTRACT

OBJECTIVES: B-cell acute lymphoblastic leukemia (B-ALL) can afflict both adult and pediatric patients and is characterized by a build-up of B lymphoblasts. Here we present a case of a 25-year-old male patient with a history of B-ALL. Ninety percent of the bone marrow revealed pancytopenia with sheets of B lymphoblasts consistent with the diagnosis of B-ALL for acute pre-B lymphoblastic leukemia. The immunophenotype also presented predominant immature precursor B lymphoid cells positive for CD19, CD10, CD34, CD58, CD38, CD9, and TdT. Chromosome analysis of the bone marrow showed a complex karyotype described as 45~47,XY,i(8)(q10),der(10)add(10)(p11.1)add(10)(q23),-20,+1~2mar[cp3]/46,XY[36]. While IGH rearrangements were cryptic cytogenetically, DNA FISH analysis showed evidence of the IGH (14q32.2) gene rearrangement in 96.5% of the nuclei examined. These results were described as nuc ish(IGHx2)(5'IGH sep 3'IGHx1)[187/200],(5'IGH,3'IGH)x1~4(5'IGH con 3'IGHx0~2) [6/200]. The remaining probes were normal. Further studies using the MYC/IGH DC, DF probe from Abbott showed a gain of IGH signal in 7.5% of the nuclei examined: nuc ish(MYCx2,IGHx3)[15/200]. Metaphase FISH also showed that what appeared to be an isochromosome 8q was a derivative chromosome 8 defined as add(8)(p11.2) that contained a green IGH signal. In light of these results the karyotype was characterized as 45~47,XY,add(8)(p11.2),der(10)add(10)(p11.1)add(10)(q23),-20,+1~2mar[cp3].ish add(8) (p11.2) IgH+. IgH abnormalities are rare in B-ALL and are usually associated with a poor prognosis. However, at the present time our patient presented no evidence of persistent or residual disease and a cytogenetic response to the present therapy.

2.
J Assoc Genet Technol ; 49(2): 79-87, 2023.
Article in English | MEDLINE | ID: mdl-37269317

ABSTRACT

OBJECTIVES: We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22. Also, additional material of unknown origin was found on 3q, 5p, 9p, 11p, 13p, 14p, and 15p; there were two copies of 19p, a deletion of 8q, and numerous unidentified rings and markers were present. This was characterized as: 75~77,XXX,+1,der(1;6)(p10;p10),add(3)(q27),+4,add(5)(p15.1),+6,+8,del(8)(q24.1),+add(9)(p24),-11,add (11) (p13),-13,add(13)(p10),add(14)(p11.2),-15,add(15)(p11.2), -16,-17,+19,add(19)(p13.3)x2,+20,-22, +0~4r,+4~10mar[cp11]/46,XX[8]. The cytogenetic analysis correlates with the concurrent FISH study which was positive for additional signals of EVI1(3q26.2), TAS2R1 (5p15.31), EGR1 (5q31.2), RELN (7q22), TES (7q31) RUNX1T1 (8q21.3), ABL1 (9q34), KMT2A (11q23), PML (15q24.1), CBFB (16q22), RARA (17q21), PTPRT (20q12), MYBL2 (20q13.12), RUNX1 (21q22.12) and BCR (22q11.2). Hyperdiploid karyotypes within the context of complex structural abnormalities are rare events usually associated with a poor prognosis in MDS.

3.
Rev. esp. cardiol. (Ed. impr.) ; 75(11): 867-876, nov. 2022. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-211708

ABSTRACT

Introducción y objetivos El fenotipado avanzado de lipoproteínas es mejor predictor del riesgo aterosclerótico que el colesterol. El perfil de lipoproteínas en la insuficiencia cardiaca (IC) no está completamente caracterizado. Nuestro objetivo fue describir el perfil de lipoproteínas en IC crónica en comparación con una población de control emparejada. Métodos Estudio transversal entre mayo 2006 y abril 2014, que incluyó pacientes ambulatorios con IC crónica. Las concentraciones de lípidos y el tamaño de las principales fracciones de lipoproteínas (lipoproteínas de alta densidad [HDL], lipoproteínas de baja densidad [LDL] y lipoproteínas de muy alta densidad) y concentración de sus subfracciones (grandes, medianas y pequeñas) se evaluaron mediante espectroscopia de resonancia magnética. Resultados 429 pacientes con IC crónica se compararon con 428 controles. Los pacientes con IC crónica presentaron menor colesterol total y menor concentración de partículas de LDL (1.115 frente a 1.352 nmol/L; p <0,001) y HDL (25,7 frente a 27,9μmol/L; p <0,001), esta última mediada principalmente por la reducción de la subfracción pequeña de HDL (15,2 frente a 18,6μmol/L; p <0,001). El tamaño medio de las partículas lipoproteínas de muy alta densidad, LDL y HDL fue significativamente mayor en los pacientes con IC. Todas las diferencias relacionadas con la partícula HDL persistieron después del ajuste por clase funcional o índice de masa corporal. Encontramos fuertes correlaciones negativas entre biomarcadores cardiacos (fracción aminoterminal del propéptido natriurético cerebral y interleucina-1 tipo de receptor 1) con concentraciones de LDL y HDL, sus subfracciones pequeñas y el tamaño de la partícula HDL. Conclusione Los pacientes con IC crónica difieren significativamente en su perfil de lipoproteínas en comparación con controles emparejados. Se necesitan más investigaciones para comprender mejor la relevancia patogénica de esta diferencia (AU)


Introduction and objectives Advanced lipoprotein phenotyping is a better predictor of atherosclerotic cardiovascular risk than cholesterol concentration alone. Lipoprotein profiling in heart failure (HF) is incompletely characterized. We aimed to describe the lipoprotein profile in patients with chronic HF compared with a matched control population. Methods This cross-sectional study was performed from May 2006 to April 2014 and included ambulatory patients with chronic HF. Lipid concentrations and the size of main lipoprotein fractions (high-density lipoprotein [HDL], low-density lipoprotein [LDL], and very low-density lipoprotein) and the particle concentration of their 3 subfractions (large, medium and small) were assessed using 1H magnetic resonance spectroscopy. Results The 429 included patients with chronic HF were compared with 428 matched controls. Patients with chronic HF had lower total cholesterol and lower mean LDL (1115 vs 1352 nmol/L; P<.001) and HDL (25.7 vs 27.9μmol/L; P <.001) particle concentrations, with this last difference being mediated by a significantly lower concentration of the small subfraction of HDL (15.2 vs 18.6μmol/L; P <.001). Mean very low-density lipoprotein, LDL, and HDL particle size was significantly higher in patients with HF vs controls. All HDL-related differences from controls persisted after adjustment for New York Heart Association functional class or body mass index. We found strong negative correlations of known cardiac biomarkers (N-terminal pro-brain natriuretic peptide and interleukin-1 receptor-like 1) with total and small LDL and HDL fractions and HDL particle size. Conclusions Patients with chronic HF significantly differ in their lipoprotein profile compared with unaffected controls. Further research is needed to better understand the pathogenic relevance of this difference (AU)


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Lipoprotein(a)/blood , Heart Failure/blood , Heart Failure/diagnostic imaging , Magnetic Resonance Spectroscopy , Case-Control Studies , Cross-Sectional Studies , Biomarkers/blood , Chronic Disease
4.
J Assoc Genet Technol ; 48(2): 68-75, 2022.
Article in English | MEDLINE | ID: mdl-35660675

ABSTRACT

OBJECTIVES: Myxoid/Round Cell Liposarcoma (MRCL) is characterized as a soft tissue sarcoma that is associated with unusual patterns of metastasis to extrapulmonary sites, such as bones and other soft tissue sites. Here, we present a case of a 48-year-old male patient, diagnosed with MRCL. The patient presented with a grade 1 myxoid liposarcoma in his left leg. DNA FISH analysis showed variant rearrangements of the EWSR1 (22q12) gene and loss of the 5' DDIT3 (CHOP 12q13) gene. The variant rearrangement showed one or two fusions with multiple separated (rearranged) signals. The EWSR1-DDIT3 rearrangement has been reported in MRCL. The variant rearrangements of the EWSR1 (22q12) gene findings correlate with concurrent conventional cytogenetic findings and were described as nuc ish(EWSR1x2) (5'EWSR1 sep 3'EWSR1x1)[128/100],(5'EWSR1,3'EWSR1)x1~3(5'EWSR1 con 3'EWSR1x1~2)[57/100]. The variant rearrangements of the DDIT3 (CHOP 12q13) gene findings were described as nuc ish(5'DDIT3x1,3'DDIT3x2)(5'DDIT3 con 3'DDIT3x1)[195/200]. Molecular cytogenetic studies also showed a rearrangement of EWSR1 (22q12) in 64% of nuclei and variant rearrangement in 31.5% of nuclei. A loss of DDIT3's (12q13) 5' signal was found in 97.5% of interphase nuclei. Molecular pathology results indicated the patient was positive for EWSR1 (exon 7) and DDIT3 (exon 2) fusion. The patient underwent radiation therapy pre-resection of the myxoid liposarcoma. The most common form of MRCL is associated with t(12;16)(q13;p11), leading to FUS-CHOP and EWS-CHOP fusion proteins acting as aberrant transcription factors. The key element here is that this EWSR1-DDIT3 rearrangement led to a translocation t(12;22)(q13;q12) which is a rare cytogenetic event that led to the development of MRCL in this patient.

5.
J Assoc Genet Technol ; 47(2): 78-83, 2021.
Article in English | MEDLINE | ID: mdl-34140437

ABSTRACT

OBJECTIVES: A 19-year-old male with a history of irritable bowel syndrome presented with progressive fatigue, periorbital petechiae, and abdominal pain for 2-3 weeks. The peripheral blood smear showed leukocytosis and circulating blasts. Elevated PT, PTT, and FDP with normal fibrinogen were found in the DIC panel workup. Abdominal CT suggested splenomegaly. A bone marrow biopsy revealed sheets of monotonous agranular monoblasts nearly completely replaced the hematopoietic elements. Chromosome analysis depicted an abnormal male karyotype with a t(9;11)(p22;q23) in all metaphase cells examined. Four cells showed, in addition, two 8q isochromosomes. FISH analysis was utilized with the MYC (8q24.21) probe from Abbott and the KMT2A (11q23), those of which showed gain on MYC and evidence of KMT2A. These findings correlate with the concurrent conventional cytogenetic findings and were described as nuc ish(MYCx4~9)[182/200],(KMT2Ax2)(5'KMT2A sep 3'KMT2Ax1)[181/200]. Complex karyotypes are associated with poor prognosis. Although only a few pediatric cases exist in the literature, the presence of additional abnormalities put this finding as a poor prognostic marker in AML. Correlation with other clinical data was indicated.

6.
Cuad. med. forense ; 23(3/4): 82-91, jul.-dic. 2017. graf, tab
Article in Spanish | IBECS | ID: ibc-187834

ABSTRACT

El presente trabajo analiza la sintomatología del trastorno por estrés postraumático en mujeres víctimas de violencia sexual en función de la edad en que tuvo lugar dicha violencia y del tipo de violencia ejercida (puntual o reiterada). Se llevó a cabo un estudio observacional de cohorte retrospectivo, con una muestra de usuarias de la Asociación de Mujeres Víctimas de Agresiones Sexuales (AMUVI) que habían sufrido algún tipo de violencia sexual. Se las evaluó con una entrevista semiestructurada de elaboración propia y con la escala de gravedad de síntomas del trastorno por estrés postraumático. Los resultados indican que, si bien no existen diferencias significativas entre grupos, son las mujeres mayores de 20 años y víctimas de violencia puntual las que presentan un mayor número de síntomas, con algunas diferencias significativas en función de su frecuencia. Estos resultados invitan a continuar investigando este fenómeno


The present study analyzes the symptoms of Posttraumatic Stress Disorder in women victims of sexual violence based on the age at which the violence took place and the type of violence (punctual or repeated). An observational, retrospective cohort study was carried out with a sample of users of the Association of Women Victims of Sexual Assault (AMUVI) and victims of some type of sexual violence. They were evaluated with an own elaboration semi-structured interview of and with the Scale of severity of symptoms of Post-traumatic Stress Disorder. The results indicate that, although there are no significant differences between groups, women over 20 years of age and victims of point violence present a greater number of symptoms, and there are some significant differences depending on the frequency. These results invite us to continue investigating this phenomenon


Subject(s)
Humans , Male , Female , Adolescent , Young Adult , Adult , Stress Disorders, Post-Traumatic/psychology , Sex Offenses/psychology , Violence Against Women , Retrospective Studies , Cohort Studies , Interviews as Topic
7.
Sci Rep ; 7(1): 14394, 2017 10 31.
Article in English | MEDLINE | ID: mdl-29089534

ABSTRACT

The relationship between lithic technology, learning and language is a topic of growing interest in human evolution studies, and has therefore been the subject of numerous scientific papers in recent years. To evaluate the role of language in the social transmission of lithic technology, we designed and developed an experimental protocol through which we compared the acquisition of knapping skills in thirty non-experts in the early stages of learning, by means of three mechanisms of social transmission: imitation-emulation, gestural communication, and verbal communication. All the apprentice knappers carried out the experimental task with blanks that were equal in shape and size, and were requested to replicate what the expert knapper was doing: the alternating method, a sufficiently simple, but systematic technique for detaching flakes from a core. We analysed each participant's actions, including those of the master knapper, the final products (flakes and cores), and the knapping sequences, by analysing the refits. Our results show that the apprentices improved their knapping skills in teaching conditions -both gestural and verbal communication-, and specially through the latter. In conclusion, our study supports the hypothesis of co-evolution between lithic technology and social learning, which could have favoured the emergence of verbal language.


Subject(s)
Language , Learning , Technology , Adult , Biological Evolution , Gestures , Humans , Imitative Behavior , Models, Theoretical , Random Allocation , Social Behavior , Young Adult
8.
Rev. esp. nutr. comunitaria ; 23(3): 0-0, jul.-sept. 2017. tab, ilus, graf
Article in Spanish | IBECS | ID: ibc-170068

ABSTRACT

Fundamentos: El desayuno es una práctica fundamental para desarrollar actividades físicas y mentales de forma adecuada durante la jornada. Sin embargo, se aprecia un número creciente de estudiantes que lo realizan inadecuadamente. Por ello, este trabajo pretende analizar el hábito y la calidad del desayuno en estudiantes universitarios del grado de enfermería. Métodos: se llevó a cabo un estudio transversal en 436 estudiantes de enfermería para evaluar la calidad del desayuno mediante un cuestionario de 7 preguntas, "Test de calidad del desayuno de 7 puntos" (TCD7), valorando el tiempo dedicado, entorno, compañía y composición. Resultados: Los estudiantes conocen parcialmente los alimentos recomendados: lácteos, cereales y fruta (46,3%) pero muy pocos lo llevan a cabo (10,8%). Un 28,3% dedica >10 minutos, un 94,6% desayuna en casa y un 26,2% desayuna solo. Esto refleja una puntuación mayor en los estudiantes de último curso (4,5) que en los de primero (4,1) (p<0,05). Conclusiones: Estos resultados muestran que los estudiantes conocen las recomendaciones sobre el desayuno, pero no las llevan a cabo, observándose un mejor seguimiento a mayor formación recibida y que el TCD7 podría ser una herramienta adecuada, sencilla y rápida para detectar la calidad global de la práctica del desayuno (AU)


Background: Breakfast is a fundamental practice to develop physical and mental activities properly during the day. However, there is a growing number of students who do not do it adequately. For that reason, the aim of this study is to analyse the breakfast habit and quality in university nursing students. Methods: a transversal study was carried out to 436 university nursing students in order to evaluate the breakfast quality through a 7 questions test named the "7-point Breakfast Quality Test" (BQ7), that values the time spent, environment, company and breakfast composition. Results: Students know partially the recommended foods: dairy, cereals and fruit (46.3%) but very few eat them at breakfast (10.8%). A 28.3% spent >10 minutes, 94.6% had breakfast at home and 26.2% had breakfast alone. This reflects a higher score in the last year (4.5) than in the first (4.1) (p <0.05). Conclusions: These results show that students know the recommendations about breakfast but do not carry them out, being better the follow-up at more training received and that the TCD7 could be an adequate, simple, and quick tool to detect the overall quality of breakfast practice (AU)


Subject(s)
Humans , Male , Female , Young Adult , Breakfast/physiology , Food Quality , Obesity/prevention & control , Overweight/prevention & control , Students, Nursing/statistics & numerical data , Cross-Sectional Studies , Health Knowledge, Attitudes, Practice
9.
Cuad. med. forense ; 22(1/2): 30-39, ene.-jun. 2016. tab
Article in Spanish | IBECS | ID: ibc-159569

ABSTRACT

El presente trabajo analiza el grave problema de la violencia sexual ejercida sobre las mujeres en función del momento vital en que tuvo lugar dicha violencia, y de un amplio número de variables sociodemográficas que nos permiten ofrecer una descripción del perfil de las víctimas y de las condiciones que probabilizan dicha victimización. Se realizó un estudio observacional, de cohorte retrospectivo, con una muestra de mujeres que acudieron a la Asociación de Mujeres Víctimas de Agresiones Sexuales (AMUVI) y declararon haber sufrido violencia sexual. Se les aplicó una entrevista elaborada para el caso que recogía información de diferentes variables, existiendo diferencias significativas en función de la edad a la que fueron agredidas. Los resultados obtenidos en cuanto a la frecuencia de la violencia sexual, el nivel socioeconómico de la víctima, la relación víctima-agresor, la diferencia de edad entre ellos, el tiempo transcurrido desde la primera agresión, las estrategias utilizadas por el agresor, el apoyo familiar y las consecuencias físicas, sugieren la existencia de dos perfiles de víctimas. Este hallazgo permitirá mejorar la calidad de los programas de prevención a mujeres víctimas de violencia sexual (AU)


This paper discusses the serious problem of sexual violence on women depending on at what point in his life it took place and depending on a wide number of demographic variables that allow to provide a description of the profile of the victims and the conditions that make more likely that victimization. An observational retrospective cohort was conducted. For this purpose, we elaborated an interview where we asked about different variables that were answered by sample of women attending the Association of Women Victims of Sexual Assault to declare that they had suffered sexual violence. They did an interview with some variables: frequency of sexual violence suffered, socioeconomic status of the victim, relationship with the perpetrator, age difference between the victim and the aggressor, time since sexual violence happened, strategies used by the perpetrator or family support received. The conclusions suggest the existence of two profiles, and these profiles can be used to improved the quality of the prevention programs for women victims of sexual violence (AU)


Subject(s)
Humans , Female , Crime Victims/psychology , Crime Victims/statistics & numerical data , Aggression/psychology , Battered Women/classification , Battered Women/psychology , Sex Offenses , Crime Victims/classification , Aggression/classification , Observational Study , Retrospective Studies , Spain/ethnology , Battered Women/education , Battered Women/statistics & numerical data
10.
Arch. Soc. Esp. Oftalmol ; 89(3): 110-112, mar. 2014. ilus
Article in Spanish | IBECS | ID: ibc-120926

ABSTRACT

CASO CLÍNICO: Paciente varón de 23 años sin antecedentes personales de interés que acude por traumatismo con rama de limonero en ojo derecho hacía dos días. En la biomicroscopia se observaba una erosión corneal central, un infiltrado estromal arboriforme blanquecino y un Tyndall +/++. El cultivo de raspado corneal fue positivo para Colletotrichum spp. El paciente respondió favorablemente a la anfotericina tópica. DISCUSIÓN: Colletotrichum spp. constituye una causa infrecuente de queratitis, secundaria generalmente a erosiones ocasionadas por productos de origen vegetal, y debe ser incluido en el diagnóstico diferencial de las queratitis fúngicas


CASE REPORT: A 23 years old male with an unremarkable past medical history suffered an injury with a branch of a lemon tree in the right eye two days prior to presentation. The slit-lamp examination showed a central corneal erosion with a white tree-shaped stromal infiltrate and Tyndall +/++ in anterior chamber. Cultivation of corneal scraping was positive for Colletotrichum spp. The patient responded favourably to topical amphotericin. DISCUSSION: Colletotrichum spp. is an uncommon cause of keratitis, usually secondary to corneal erosion caused by plant material and should be included in the differential diagnosis of fungal keratitis


Subject(s)
Humans , Male , Young Adult , Keratitis/diagnosis , Eye Infections, Fungal/diagnosis , Colletotrichum/isolation & purification , Eye Injuries, Penetrating/complications , Microscopy , Amphotericin B/therapeutic use
11.
Arch Soc Esp Oftalmol ; 89(3): 110-2, 2014 Mar.
Article in Spanish | MEDLINE | ID: mdl-24269408

ABSTRACT

CASE REPORT: A 23 years old male with an unremarkable past medical history suffered an injury with a branch of a lemon tree in the right eye two days prior to presentation. The slit-lamp examination showed a central corneal erosion with a white tree-shaped stromal infiltrate and Tyndall +/++ in anterior chamber. Cultivation of corneal scraping was positive for Colletotrichum spp. The patient responded favourably to topical amphotericin. DISCUSSION: Colletotrichum spp. is an uncommon cause of keratitis, usually secondary to corneal erosion caused by plant material and should be included in the differential diagnosis of fungal keratitis.


Subject(s)
Colletotrichum , Eye Infections, Fungal/microbiology , Keratitis/microbiology , Humans , Male , Young Adult
12.
Nutr Metab Cardiovasc Dis ; 22(9): 756-62, 2012 Sep.
Article in English | MEDLINE | ID: mdl-21489765

ABSTRACT

BACKGROUND AND AIMS: APOA5, a key gene regulating triglyceride (TG) levels, is reported to be expressed exclusively in the liver where it may regulate TG-rich particle synthesis and secretion. Since the same lipoprotein processing occurs in the intestine, we have postulated that this organ would also express APOA5. METHODS AND RESULTS: We have detected the APOA5 gene expression in C57BL/6J mouse and in human small intestine samples. In humans, it is expressed mainly in the duodenum and colon, with messenger RNA (mRNA) levels four orders of magnitude lower than in the liver, and the protein product being one-sixth of the liver equivalent. Subsequently, we carried out in vitro experiments in TC-7/CaCo(2) human intestinal cells to analyse the expression of APOA5, APOC3, APOB and MTP genes after the incubation with long- and short-chain fatty acids, and a peroxisome proliferator-activated receptor alpha (PPARα) agonist (Wy 14643, a fibrate therapeutic agent). In the TC-7 cell line, APOA5 expression was significantly upregulated by saturated fatty acids. The short-chain fatty acid butyrate increased APOA5 expression almost fourfold while APOB was downregulated by increasing butyrate concentrations. When TC-7 cells were incubated with PPARα agonist, the APOA5 expression was increased by 60%, while the expression of APOB, MTP and APOC3 was decreased by 50%, 30% and 45%, respectively. CONCLUSION: Our results demonstrate that APOA5 is expressed in the intestine, albeit at a much lower concentration than in the liver. While it remains to be determined whether intestinal apo A-V is functional, our in vitro experiments show that its expression is modifiable by dietary and pharmacological stimuli.


Subject(s)
Apolipoproteins A/genetics , Fatty Acids/pharmacology , Fibric Acids/pharmacology , Animals , Apolipoprotein A-V , Apolipoproteins A/metabolism , Apolipoproteins B/genetics , Apolipoproteins B/metabolism , Cell Line, Tumor , Gene Expression Regulation , Humans , Intestinal Mucosa/metabolism , Intestines/cytology , Lipoproteins/blood , Liver/metabolism , Male , Mice , Mice, Inbred C57BL , PPAR alpha/agonists , PPAR alpha/genetics , PPAR alpha/metabolism , Pyrimidines/pharmacology , Triglycerides/blood
13.
Nutr Metab Cardiovasc Dis ; 20(4): 243-8, 2010 May.
Article in English | MEDLINE | ID: mdl-19765959

ABSTRACT

BACKGROUND AND AIM: Type 2 diabetic patients have an increased prevalence of hypertriglyceridemia. RBP4 has been associated with insulin resistance and hypertriglyceridemia in obesity, the metabolic syndrome and type 2 diabetes. APOA5 is proposed to be a genetic modulator of triglycerides. The aim of this study was to evaluate the relationship between RBP4 plasma levels and lipid disturbances and to determine the impact of the APOA5-1131 T>C variant on this relationship in type 2 diabetic patients. METHODS AND RESULTS: A total of 165 type 2 diabetic patients were included in the study. RBP4 plasma levels and the APOA5-1131 T>C variant were determined and the complete lipid profile was assessed by sequential ultracentrifugation. RBP4 was positively correlated with triglyceride levels in plasma and with all the components of triglyceride-rich lipoproteins. Despite the fact that a statistically significant relationship between the APOA5 genetic variant and RBP4 plasma levels was not found, the hypertriglyceridemic effect of high RBP4 levels was enhanced by the presence of the APOA5-1131 T>C genetic variant. Correlation coefficients were 2-fold higher for TC carriers compared to TT carriers with regard to RBP4 plasma levels and all the components of triglyceride-rich lipoproteins. Those type 2 diabetic patients with high RBP4 plasma concentrations and who were TC carriers showed an increased incidence of hypertriglyceridemia (OR=7.46, P=0.010). CONCLUSION: RBP4 is associated with hypertriglyceridemia in type 2 diabetic patients. The RBP4 effect is conditioned by the presence of the APOA5-1131 T>C genetic variant.


Subject(s)
Apolipoproteins A/genetics , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/genetics , Hypertriglyceridemia/etiology , Hypertriglyceridemia/genetics , Retinol-Binding Proteins, Plasma/genetics , Adult , Aged , Apolipoprotein A-V , Apolipoproteins A/physiology , Cholesterol, HDL/blood , DNA/genetics , Diabetes Mellitus, Type 2/blood , Female , Genetic Variation , Genotype , Humans , Lipids/blood , Lipoproteins/blood , Male , Middle Aged , Odds Ratio , Retinol-Binding Proteins, Plasma/physiology , Triglycerides/blood
14.
Cuad. med. forense ; 12(43/44): 103-116, ene.-abr. 2006. tab, graf
Article in Es | IBECS | ID: ibc-055139

ABSTRACT

En la obra de 1989 de Garbarino, Guttman y Seeley, el maltrato psicológico es definido como "un ataque realizado por un adulto sobre el desarrollo de la personalidad y de la competencia social del niño mediante un patrón de conducta psicológicamente destructivo y que se manifiesta mediante cinco formas: rechazar, aislar, aterrorizar, ignorar y corromper", pero es difícil encontrar un trabajo sobre la temática de los malos tratos en general, y sobre el maltrato psicológico en particular, que no haga referencia a los problemas de definición y categorización. A pesar de que ya van 30 años de investigación que ponen de manifiesto las consecuencias adversas del maltrato o abuso emocional en la infancia, las instituciones, en escasas ocasiones, atienden estos casos si no van acompañados de otras formas de maltrato como el abuso sexual o el maltrato físico. Existen una serie de medidas que pueden poner remedio a la situación, pero cuando se observa que no existe una definición consistente y comprensible del maltrato emocional o psicológico, que comprenda tanto al abuso como al abandono o negligencia, cualquier decisión que intente remediar la situación es difícil de asumir. Una detección y denuncia rápidas de la sospecha de maltrato psicológico a las autoridades pertinentes, así como una intervención precoz, puede prevenir y minimizar las consecuencias de dicho maltrato


In 1989, Garbarino, Guttman and Seeley defined psychological abuse as "an attack made by an adult on the development of the personality and the social competence of the child through a repeated pattern of destructive conduct and that is pronounced by means of five forms: to reject, to isolate, to terrify, to ignore and to corrupt, but beside this it is difficult to find a publication on this subject in general, or in psychological abuse in particular, that does not make reference to the problems of definition and categorization. Despite that already there has been 30 years of investigation that shows the adverse consequences of the emotional abuse or neglect in the infancy, the institutions, in scarce occasions, attend these cases if they do not go accompanied by other forms of sexual or physical abuse. There exists a series of measures that can put remedy to the situation, but when it is observed that there isn't a consistent and understandable definition of the emotional abuse or psychological maltreatment that considers both abuse and neglect, any decision that tries to remedy the situation is difficult to assume. An early detection and accusation of the suspicion of psychological maltreatment to the pertinent institution, as an early intervention, can prevent and minimize the consequences of the abuse


Subject(s)
Male , Female , Child , Humans , Child Abuse/psychology , Stress, Psychological/etiology , Expressed Emotion , Affective Symptoms/etiology , Child Abuse, Sexual/psychology , Rejection, Psychology , Hostility , Early Diagnosis
15.
Rehabilitación (Madr., Ed. impr.) ; 38(6): 274-279, oct. 2004.
Article in Es | IBECS | ID: ibc-36009

ABSTRACT

La atención sociosanitaria tiene y continuará teniendo un gran desarrollo en los próximos años, y ha facilitado la creación de una red de servicios dirigidos fundamentalmente al colectivo de personas mayores y enfermos crónicos con discapacidad. Se caracteriza por la aplicación de un modelo de atención social y sanitaria adaptada y específica para dar respuesta a las necesidades de los colectivos señalados. Este modelo ofrece asistencia a personas con diferentes grados de dependencia, aplicando un modelo asistencial de cuidados prolongados, que desarrolla programas adaptados a la situación global de cada paciente y garantiza el acceso a estos servicios a todas las personas que lo precisen, en el lugar adecuado, durante el tiempo necesario y con financiación correspondiente, siendo la autonomía del paciente y su calidad de vida el objetivo primordial de este tipo de actividad (AU)


Subject(s)
Humans , Community Networks/trends , Patient Care Team/trends , Quality of Life , Patient Care Planning/trends , Social Medicine/trends , Long-Term Care/methods , Population Dynamics , Disability Evaluation
16.
Rehabilitación (Madr., Ed. impr.) ; 38(6): 362-367, oct. 2004. ilus, tab, graf
Article in Es | IBECS | ID: ibc-36021

ABSTRACT

En nuestro entorno, la red sociosanitaria nace con el objetivo de adecuar mejor las respuestas de los distintos agentes sociales y sanitarios a las necesidades continuadamente crecientes de los diferentes colectivos de personas con discapacidades consideradas tributarias, sean pacientes de larga estancia, de media estancia, de hospitales de día, de atención domiciliaria u otros.También nace con un claro objetivo de ajustar de forma más estrecha los costes que los servicios dispensados generan en el propio nivel sociosanitario o generarían si se proveyeran desde otro nivel asistencial.El propósito de este artículo es analizar, a partir de los datos de la red sociosanitaria catalana, algunos de los aspectos que nos parecen más significativos en relación con la provisión del servicio, el contenido del mismo y su coste financiado (que puede no coincidir necesariamente con el estimado) en relación con la rehabilitación (AU)


Subject(s)
Humans , Community Networks/economics , Rehabilitation/economics , Social Medicine/economics , Cost-Benefit Analysis , Health Expenditures , Health Services Needs and Demand/trends
17.
Brain Pathol ; 13(4): 639-40, 645, 2003 Oct.
Article in English | MEDLINE | ID: mdl-14655767

ABSTRACT

The April Case of the Month (COM). A 55-year-old male with history of diabetes mellitus presented with progressive loss of sensitivity on the left side of the body and horizontal diplopia. Symptoms appeared after a right basal pneumonia one month before admission. A CT scan showed an large inoperable lesion in the pons. The patient was treated with corticoids. One week later, the patient showed general deterioration. The fifth and sixth right cranial nerves were affected. Ataxia and disorders in swallowing were also present. A second CT scan showed that the pontine mass had become larger. The patient died 7 days after his admission and the autopsy was limited to CNS. The right middle cerebellar peduncle showed a 2-cm well-defined white brownish necrotic lesion that extended to the pons and periventricular gray matter. Microscopic examination revealed toxoplasmosis, which was confirmed by immunohistochemical studies. The brain tissue was negative for HIV by PCR. Toxoplasmosis is a well-known complication of AIDS, and has been reported in post-transplant patients as well, but only a few reports of toxoplasmosis in diabetics have been reported.


Subject(s)
Pons/pathology , Toxoplasmosis/diagnosis , Cysts/pathology , Humans , Immunohistochemistry , Male , Middle Aged , Necrosis , Tomography, X-Ray Computed/methods , Toxoplasmosis/metabolism , Toxoplasmosis/pathology
20.
MAPFRE med ; 12(2): 81-90, abr. 2001. tab
Article in Es | IBECS | ID: ibc-8742

ABSTRACT

Análisis realizado en los servicios de rehabilitación de siete centros sanitarios de características diversas sobre la actividad asistencial y sus costes unitarios. Estudio acompañado de un proceso previo y paralelo de desarrollo de un sistema de información para cononer la actividad de la rehabilitación médica. Explicación de la metodología aplicada para comprobar la estructura de la actividad de los servicios y la determinación de los costes unitarios de la actividad realizada en 1996-1997, mediante cálculo de los costes de los diversos recursos utilizados en cada servicio para cada una de las cuatro prestaciones médicas y 25 prestaciones terapéuticas en las que se ha comprendido toda la actividad asistencial. Se detecta una elevada dispersión de los parámetros calculados entre los servicios objeto del estudio, tanto en estructura de la actividad como en costes unitarios y un alto desajuste entre el modelo de financiación para la rehabilitación ambulatoria en los hospitales y sus costes (AU)


Subject(s)
Humans , Rehabilitation Centers/economics , Health Care Costs/statistics & numerical data , Rehabilitation Centers/statistics & numerical data , Outpatients/statistics & numerical data , Information Systems , Health Personnel/economics , Ambulatory Care/economics
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