El diagnóstico precoz del VIH, clave en la prevención del SIDA

Boletín semanal para profesionales sanitarios de la Secretaría General de Salud Pública y Participación Social de la Consejería de Salud

Biosensor para el diagnóstico y seguimiento de inmunodeficiencias

La infección por el Virus de Inmunodeficiencia Humano (VIH) y el Síndrome de Inmunodeficiencia adquirida (SIDA) afecta a millones de personas en todo el mundo, y constituye una amenaza a la salud y la vida de muchas otras más, sobre todo en países en vías de desarrollo. Existe un gran interés en el desarrollo de nuevas metodologías analíticas para el diagnóstico de dicha enfermedad de forma rápida, económica y fuera del ámbito del laboratorio por personal no especializado. Los biosensores son dispositivos ideales para cubrir esta demanda analítica facilitando la toma de decisiones y permitiendo un uso racional de técnicas analíticas confirmatorias más costosas. Se plantea el diseño de una estrategia magneto-ELISA con detección óptica así como un dispositivo magneto biosensor electroquímico para el diagnóstico de SIDA a través del recuento de células marcadoras de la enfermedad presentes en la sangre. Ambas estrategias se basan en la captura inmunomagnética de linfocitos T CD4+ con partículas magnéticas modificadas con anticuerpos monoclonales específicos (anti-CD3). La detección de las células capturadas se realiza con un anticuerpo primario anti-CD4 marcado con biotina (antiCD4-biotina) y con un conjugado de estreptavidina y de la enzima HRP (peroxidasa de rábano picante). La unión de esta enzima al anticuerpo primario se realiza a través del complejo biotina/estreptavidina. Se proponen dos tipos de sistemas de detección: óptico y electroquímico. Esto se logra mediante la elección adecuada del sustrato para cada sistema planteado. El dispositivo biosensor basados en un transductor electroquímico renovable y magnético acoplado a partículas magnéticas específicas para las células marcadoras de la enfermedad, consigue la simplificación metodológica y facilita la transferencia de la tecnología hacia la fabricación de un biokit diagnóstico en el ámbito clínico. La potencial aplicación de los dispositivos analíticos propuestos en este trabajo tienen un interés social elevado por su idoneidad para realizar análisis, rápidos, económicos y en el ámbito de la propia consulta médica.

Estudio de los exitus con diagnóstico secundario de desnutrición en un hospital de tercer nivel.

BACKGROUND: Malnutrition is a major public health problems, according to WHO, is the leading cause of death, when it affects the group of hospitalized patients, making denominating separate entity "hospital malnutrition". OBJECTIVES: The overall objective is to quantify the main diagnoses frequently high, causing exitus, with secondary diagnosis of malnutrition. METHODS: This is a descriptive study, which included all hospital discharges in 2011 and first half of 2012, which have been exitus and whose secondary diagnosis of malnutrition, with the total of 33. We performed a descriptive analysis, effected the Mann-Whitney nonparametric test (p < 0.05). RESULTS: The most frequent main diagnoses among 33 analyzed are high sepsis (12.1%), liver metastases (9.1%), pneumonia (6.1%), acute respiratory failure (6.1%) and renal acute renal (6.1%). CONCLUSIONS: Although the most frequent primary diagnosis of sepsis, by grouping the diagnoses, the most frequent DRG is respiratory disease, so it has to make comprehensive and quality coding to adjust the relative weight of the same reality. It is essential to specify the source of clinical information used for coding, the degree of malnutrition, for greater specificity in the data.

IDC-PAL : instrumento diagnóstico de la complejidad en cuidados paliativos : documento de apoyo al PAI cuidados paliativos

Publicado en la página web de la Consejería de Igualdad, Salud y Políticas Sociales: www.juntadeandalucia.es/salud (Consejería de Igualdad, Salud y Políticas Sociales/ Profesionales / Nuestro Compromiso por la Calidad / Procesos Asistenciales Integrados)

Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions.

OBJECTIVE: To describe prevalence, prenatal diagnosis and epidemiological data on oesophageal atresia from 23 well-defined European regions and compare the prevalence between these regions. DESIGN: Population-based study using data from a large European database for surveillance of congenital anomalies (EUROCAT) for two decades (1987-2006). SETTINGS: Twenty-three participating registries based on multiple sources of information including information about live births, fetal deaths with gestational age ≥20 weeks and terminations of pregnancy. PATIENTS: 1222 cases of oesophageal atresia in a population of 5 019 804 births. RESULTS: The overall prevalence was 2.43 cases per 10 000 births (95% CI 2.30 to 2.57). There were regional differences in prevalence ranging from 1.27 to 4.55. Prenatal detection rates varied by registry from >50% of cases to <10% of cases. A total of 546 cases (44.7%) had an isolated oesophageal anomaly, 386 (31.6%) were multiple malformed and 290 (23.7%) had an association or a syndrome. There were 1084 live born cases (88.7%), 43 cases were fetal deaths and 95 cases were terminations of pregnancy. One-week survival for live births was 86.9% and 99.2% if the gestational age was ≥38 weeks and isolated oesophageal atresia was present. Males accounted for 57.3% of all cases and 38.5% of live born cases were born with gestational age <37 weeks. CONCLUSION: There were regional differences in prevalence of oesophageal atresia in Europe. Half of all cases had associated anomalies. Prenatal detection rate increased from 26% to 36.5% over the two decades. Survival in infants with isolated oesophageal atresia born at term is high.

Utilidad de la tomografía de coherencia óptica (OCT) previa a la cirugía de cataratas en el diagnóstico de maculopatías.

Dada la fuerte presión por parte de los pacientes a la hora de conseguir buenos resultados visuales tras la cirugía de cataratas, se considera de gran importancia la correcta evaluación del fondo de ojo para el diagnóstico de posibles maculopatías que puedan ensombrecer el pronóstico postoperatorio. Por ello, con este trabajo se pretende valorar si la tomografía de coherencia óptica macular es un método diagnóstico más fiable y eficiente que la tradicional exploración funduscópica realizada por el propio oftalmólogo, y si debe convertirse en una prueba complementaria imprescindible en las visitas preoperatorias.

Algoritmo para el diagnóstico precoz de la deficiencia de vitamina b12 en ancianos

BACKGROUND: The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories. Issues of sensitivity for holotranscobalamin and the low specificity of total homocysteine limit their utility. The aim of the present study is to establish a diagnostic algorithm by using a combination of these markers in place of a single measurement. METHODS: We compared the diagnostic efficiency of these markers for detection of vitamin B12 deficiency in a population (n = 218) of institutionalized elderly (median age 80 years). Biochemical, haematological and morphological data were used to categorize people with or without vitamin B12 deficiency. RESULTS: In receiver operating curves characteristics for detection on vitamin B12 deficiency using single measurements, serum folate has the greatest area under the curve (0.87) and homocysteine the lowest (0.67). The best specificity was observed for erythrocyte folate and methylmalonic acid (100% for both) but their sensitivity was very low (17% and 53%, respectively). The highest sensitivity was observed for homocysteine (81%) and serum folate (74%). When we combined these markers, starting with serum and erythrocyte folate, followed by holotranscobalamin and ending by methylmalonic acid measurements, the overall sensitivity and specificity of the algorithm were 100% and 90%, respectively. CONCLUSION: The proposed algorithm, which combines erythrocyte folate, serum folate, holotranscobalamin and methylmalonic acid, but eliminate B12 and tHcy measurements, is a useful alternative for vitamin B12 deficiency screening in an elderly institutionalized cohort.

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and covering 1 458 552 births. RESULTS: There were 601 MCKD cases giving an overall prevalence of 4.12 per 10 000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn compared with 33% of bilateral MCKD cases. For unilateral MCKD cases, 84% had an isolated renal anomaly compared with 51% of bilateral MCKD cases (p < 0.001). CONCLUSIONS: Cases with unilateral MCKD are mainly liveborn, and only 16% have associated major malformations or a syndrome. Cases with bilateral MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd.

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

OBJECTIVES: The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH). METHODS: A retrospective review of three fetuses with confirmed DD-SH was conducted. The fetal ultrasound findings, the radiological characteristics, and the results of the mutation analysis of the heparan sulphate perlecan gene 2 (HSPG2) were reviewed. RESULTS: There were three cases in two families with DD-SH diagnosed prenatally. The main prenatal ultrasound and the radiological features of DD-SH were severe limb shortening and vertebral segmentation and fusion defects (anisospondyly). The DNA analysis of the HSPG2 gene showed that the two affected fetuses in a nonconsanguineous family had a compound heterozygote for the c.646G > T transversion in exon 7 and a c.5788C > T transition in exon 46. The fetus born to the consanguineous couple had a homozygous mutation c.1356-27_1507 + 59del. CONCLUSION: DD-SH can be diagnosed prenatally using fetal ultrasound as early as 13 weeks. Xrays and DNA analysis of the HSPG2 gene are important for the confirmation of the diagnosis and for the preimplantation and prenatal diagnosis in pregnancies at risk. © 2013 John Wiley & Sons, Ltd.

Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group.

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of limb reduction deficiencies (LRD) by routine ultrasonographic examination of the fetus. All LRDs suspected prenatally and all LRDs (including chromosome anomalies) confirmed at birth were identified from 20 Congenital Malformation Registers from the following 12 European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries are following the same methodology. During the study period (1996-98) there were 709,030 births, and 7,758 cases with congenital malformations including LRDs. If more than one LRD was present the case was coded as complex LRD; 250 cases of LRDs with 63 (25.2%) termination of pregnancies were identified including 138 cases with isolated LRD, 112 with associated malformations, 16 with chromosomal anomalies and 38 non chromosomal recognized syndromes. The prenatal detection rate of isolated LRD was 24.6% (34 out of 138 cases) compared with 49.1% for associated malformations (55 out of 112; p<0.01). The prenatal detection of isolated terminal transverse LRD was 22.7% (22 out of 97), 50% (3 out of 6) for proximal intercalary LRD, 8.3% (1 out of 12) for longitudinal LRD and 0 for split hand/foot; for multipli-malformed children with LRD those percentages were 46.1% (30 out of 65), 66.6% (6 out of 9), 57.1% (8 out of 14) and 0 (0 out of 2), respectively. The prenatal detection rate of LRDs varied in relation with the ultrasound screening policies from 20.0% to 64.0% in countries with at least one routine fetal scan.

Diagnóstico Radiológico y Resultados del Tratamiento Intraarterial en el Ictus del Despertar

En el presente trabajo se realiza una revisión del diagnóstico de la entidad clínica conocida como “ictus del despertar” y de los criterios de selección de los pacientes que pueden beneficiarse del tratamiento endovascular, que constituye una innovación en esta patología. También se valoran sus resultados inmediatos y a medio plazo, siguiendo la evolución clínica de los pacientes. Nos basaremos en una serie de 32 pacientes tratados en nuestro centro, el Hospital Universitari de Bellvitge, desde octubre de 2010 y hasta marzo de 2012. A todos se les realizó anamnesis, exploración neurológica, TC craneal simple, angio-TC y TC perfusión. Se seleccionó a los candidatos a tratamiento con trombectomía mecánica intraarterial. A todos los pacientes se les realizó TC de control 24 horas después del inicio de los síntomas o de la realización de tratamiento. Se siguió la evolución clínica, calculando el NIHSS al finalizar el procedimiento y al alta, y a los tres meses se obtuvo la puntuación en la escala de Rankin. En esta presentación del ictus, es especialmente complejo determinar la existencia de parénquima cerebral salvable o "penumbra isquémica"; su presencia, determina la indicación del tratamiento. El TC perfusión se ha revelado como la herramienta más útil en esta criba. El tratamiento, correctamente indicado, es efectivo y mejora la calidad de vida de estos pacientes.

Diagnóstico de la infección tuberculosa mediante IGRAs en pacientes con psoriasis

El úso de anti-TNF-α se ha asociado a reactivación de infección tuberculosa latente (ITL). Los IGRAs son pruebas in vitro más sensibles y mas específicas que la prueba de la prueba de la tuberculina (PT). El objetivo de este trabajo es el de contrastar la correlación entre los resultados de las técnicas in vitro y la PT. Analizamos 103 pacientes con psoriasis en tratamiento sistémico. Los resultados de nuestra serie permiten sugerir una mayor sensibilidad y especificidad de los IGRAs en la detección de ITL respecto a la PT, de forma independiente al estado de inmunosupresión y al fármaco empleado, con alta concordancia entre los IGRAs.