Impact of C4, C4A and C4B gene copy number variation in the susceptibility, phenotype and progression of systemic lupus erythematosus.

BACKGROUND: Complement component 4 (C4) gene copy number (GCN) affects the susceptibility to systemic lupus erythematosus (SLE) in different populations, however the possible phenotype significance remains to be determined. This study aimed to associate C4A, C4B and total C4 GCN and SLE, focusing on the clinical phenotype and disease progression. METHODS: C4, C4A and C4B GCN were determined by real-time PCR in 427 SLE patients and 301 healthy controls, which underwent a detailed clinical evaluation according to a pre-established protocol. RESULTS: The risk of developing SLE was 2.62 times higher in subjects with low total C4 GCN (< 4 copies, OR = 2.62, CI = 1.77 to 3.87, p < 0.001) and 3.59 times higher in subjects with low C4A GCN (< 2 copies; OR = 3.59, CI = 2.15 to 5.99, p < 0.001) compared to those subjects with normal or high GCN of total C4 (≥4) and C4A (≥2), respectively. An increased risk was also observed regarding low C4B GCN, albeit to a lesser degree (OR = 1.46, CI = 1.03 to 2.08, p = 0.03). Furthermore, subjects with low C4A GCN had higher permanent disease damage as assessed by the Systemic Lupus International Collaborating Clinics - Damage Index (SLICC-DI; median = 1.5, 95% CI = 1.2-1.9) than patients with normal or high copy number of C4A (median = 1.0, 95% CI = 0.8-1.1; p = 0.004). There was a negative association between low C4A GCN and serositis (p = 0.02) as well as between low C4B GCN and arthritis (p = 0.02). CONCLUSIONS: This study confirms the association between low C4 GCN and SLE susceptibility, and originally demonstrates an association between low C4A GCN and disease severity.

Impact of C4, C4A and C4B gene copy number variation in the susceptibility, phenotype and progression of systemic lupus erythematosus

Abstract Background Complement component 4 (C4) gene copy number (GCN) affects the susceptibility to systemic lupus erythematosus (SLE) in different populations, however the possible phenotype significance remains to be determined. This study aimed to associate C4A , C4B and total C4 GCN and SLE, focusing on the clinical phenotype and disease progression. Methods C4 , C4A and C4B GCN were determined by real-time PCR in 427 SLE patients and 301 healthy controls, which underwent a detailed clinical evaluation according to a pre-established protocol. Results The risk of developing SLE was 2.62 times higher in subjects with low total C4 GCN (< 4 copies, OR = 2.62, CI = 1.77 to 3.87, p < 0.001) and 3.59 times higher in subjects with low C4A GCN (< 2 copies; OR = 3.59, CI = 2.15 to 5.99, p < 0.001) compared to those subjects with normal or high GCN of total C4 (≥4) and C4A (≥2), respectively. An increased risk was also observed regarding low C4B GCN, albeit to a lesser degree (OR = 1.46, CI = 1.03 to 2.08, p = 0.03). Furthermore, subjects with low C4A GCN had higher permanent disease damage as assessed by the Systemic Lupus International Collaborating Clinics - Damage Index (SLICC-DI; median = 1.5, 95% CI = 1.2-1.9) than patients with normal or high copy number of C4A (median = 1.0, 95% CI = 0.8-1.1; p = 0.004). There was a negative association between low C4A GCN and serositis ( p = 0.02) as well as between low C4B GCN and arthritis ( p = 0.02). Conclusions This study confirms the association between low C4 GCN and SLE susceptibility, and originally demonstrates an association between low C4A GCN and disease severity.

Primary central nervous system lymphoma in immunocompetent patients: spectrum of findings and differential characteristics. / Linfoma cerebral primario en pacientes inmunocompetentes: espectro de hallazgos y características diferenciales.

Primary central nervous system (CNS) lymphomas are uncommon and their management differs significantly from that of other malignant tumors involving the CNS. This article explains how the imaging findings often suggest the diagnosis early. The typical findings in immunocompetent patients consist of a supratentorial intraaxial mass that enhances homogeneously. Other findings to evaluate include multifocality and incomplete ring enhancement. The differential diagnosis of primary CNS lymphomas should consider mainly other malignant tumors of the CNS such as glioblastomas or metastases. Primary CNS lymphomas tend to have less edema and less mass effect; they also tend to spare the adjacent cortex. Necrosis, hemorrhage, and calcification are uncommon in primary CNS lymphomas. Although the findings in morphologic sequences are characteristic, they are not completely specific and atypical types are sometimes encountered. Advanced imaging techniques such as diffusion or especially perfusion provide qualitative and quantitative data that play an important role in differentiating primary CNS lymphomas from other brain tumors.

[Guidelines of the Spanish Society of Nephrology. Clinical practice guidelines for peritoneal dialysis]. / Guías Sociedad Española de Nefrología. Guías de práctica clínica en diálisis peritoneal.

In Spain and in each of its autonomous communities, the dialysis treatment of chronic renal disease stage 5 is totally covered by public health. Peritoneal dialysis, in any of its modalities, is established as the preferred home dialysis technique and is chosen by high percentage of patients as their choice in dialysis treatment. The Spanish Society of Nephrology has promoted a project of creation of performance guides in the field of peritoneal dialysis, entrusting a work group composed of members of the Spanish Society of Nephrology a with the development of these guides. The information offered is based on levels of evidence, opinion and clinical experience of the most relevant publications of the topic. In these guides, after defining the concept of << peritoneal dialysis>>, the obligations and responsibilities of the sanitation team of the peritoneal dialysis unit are determined, and protocols and performance procedures that try to include all the aspects that concern the patient with chronic renal disease in substitute treatment with this technique are developed. They propose prescription objectives based on available clinical evidence and, lacking this, on the consensus of the experts' opinions. The final aim is to improve the care and quality of the of the patient in peritoneal dialysis, optimizing in this way the survival of the patient and of the technique. In Spain, as in other neighbouring countries, peritoneal dialysis has an incidence and prevalence that is much lower than that of hemodialysis, ranging in the last evaluation by the Spanish Society of Nephrology between 5 and 24% in the different autonomous communities. The great majority of peritoneal dialysis units form part of the public network of the Spanish state, with special representation as a Satellite Unit or Concerted Center related to the public hospital of reference, on which it must depend.

Frecuencia de la candidiasis clínica en la Unidad de Cuidados Intensivos del Hospital Universitario Ruiz y Páez: Ciudad Bolívar agosto 1996 enero 1997 / Clinical candidiasis frequency in Intensive Care Units at Universitary Ruiz y Páez

Las infecciones invasivas por candida spp son un problema serio frecuente en pacientes críticamente enfermos. Las especies de candida son un ejemplo de patógenos adquiridos en el hospital. Dentro de las áreas de alto riesgo están las Unidades de Cuidados Intensivos (UCI), donde los médicos se encuentran con frecuencia, al cuidado de pacientes con cultivos positivos para candida spp de uno o más sitios anatómicos. En la UCI del Hospital Universitario "Ruiz y Páez" no hay estudios que describan el comportamiento de esta patología y las especies involucradas. Se diseñó un estudio prospectivo, no aleatorio abierto (agosto 1996 - enero 1997), incluyendo 30 pacientes ingresados a la UCI en este período, tomándose como criterio de inclusión el haber ingresado a la UCI y criterio de exclusión que al momento del ingreso estuviese recibiendo antimicóticos. Las muestras se tomaron en los primeros 8 días del ingreso. Se recolectaron 238 muestras, 40 correspondieron a orina, 38 a exudados faríngeos, 27 a secreción traqueobronquial, 90 a hemocultivos. La frecuencia global del total de muestras recolectadas fue de 44, 11 por ciento para candida spp en los pacientes ingresados al protocolo. La especie más aislada fue C. albicans (73,3 por ciento); luego C. stellatoidea (15,23 por ciento); C. kruseii (7,61 por ciento); C. tropicalis 82,85 por ciento) y C. guillermondi (0,9 por ciento). No se encontró candidemia, durante el protocolo, sin embargo, en 2 pacientes con más de dos semanas en UCI se dectectó candidiasis sistémica. El 86,66 por ciento estaban colonizados por candida spp en al menos un sitio anatómico y el 56,66 por ciento en 3 o más sitios anatómicos. El tracto gastrointestinal fue el sitio anatómico más colonizado, el 76,66 or ciento de los pacientes presentaban entre 8 y 12 factores de riesgo para candidiasis y el 50 por ciento e ellos se clasificaron según TISS (Indice de Intervención Terapéutica) de ingreso en Clase III y el 23,33 por ciento en Clave IV. El promedio de estancia en la UCI fue de 7,06 ñ 4,7 días. Para detectar candidemia en los pacientes recluidos se necesitaría ampliar el tiempo de toma de muestra a dos semanas

Hypertensive diseases of pregnancy and parity.

Chesley's classic long-term follow up study of eclamptic women clearly demonstrated the prognostic significance of parity in the differential diagnosis of various hypertensive diseases of pregnancy. Multiparous patients with eclampsia were different on long-term follow-up from primiparous eclamptic women. A logical conclusion from this observation is that multiparous and primiparous patient groups should be analyzed separately whenever hypertensive diseases of pregnancy are evaluated. This study is therefore an attempt to define the clinical profile of hypertension during pregnancy on the basis of parity alone. The prenatal and hospital records of 99 successive pregnant patients identified as hypertensive during a 1-year period at Mount Sinai Hospital Medical Center served as the study population. A group of 25 primiparous and 25 multiparous patients, all with uncomplicated pregnancies and normal deliveries in sequence during a 1-month period, served as normal nonhypertensive control groups. Various pregnancy parameters were statistically evaluated for study and control groups. Significant differences were found between hypertensive primiparous and multiparous patients in mean weight increase (p less than 0.05), gestational age at first increase in blood pressure (p less than 0.007), and time from first increase in blood pressure until delivery (p less than 0.008). The difference in birth weight was not significant between hypertensive groups. In contrast, among the control groups, multiparous patients had significantly larger offspring than primiparous patients (p less than 0.01). Weights of normal primiparous control women were almost identical to those of primiparous hypertensive women (3252.8 +/- 511.8 versus 3203.26 +/- 679.5 gm). Birth weights of offspring from multiparous hypertensive women, while not significantly different from those of primiparous hypertensive women, were significantly lower than those of multiparous control subjects (3093.94 +/- 898.7 versus 3593 +/- 305.6; p less than 0.01). No significant differences in a variety of laboratory findings, reflexes, edema, or mode of delivery were observed between the various groups. The clinical and laboratory presentation of hypertension in pregnancy may be similar between primiparous and multiparous patients. Nevertheless, clear differences do exist in both maternal presentation and impact of maternal disease on fetal growth and development. These differences strongly suggest a different pathophysiology as the underlying cause of hypertensive disease in primiparous and multiparous pregnant women.(ABSTRACT TRUNCATED AT 400 WORDS)