Novel Associations between Related Proteins and Cellular Effects of High-Density Lipoprotein

BACKGROUND AND OBJECTIVES: Recent studies have examined the structure-function relationship of high-density lipoprotein (HDL). This study aimed to identify and rank HDL-associated proteins involved in several biological function of HDL.METHODS: HDLs isolated from 48 participants were analyzed. Cholesterol efflux capacity, effect of HDL on nitric oxide production, and vascular cell adhesion molecule-1 expression were assessed. The relative abundance of identified proteins in the highest vs. lowest quartile was expressed using the normalized spectral abundance factor ratio.RESULTS: After adjustment by multiple testing, six proteins, thyroxine-binding globulin, alpha-1B-glycoprotein, plasma serine protease inhibitor, vitronectin, angiotensinogen, and serum amyloid A-4, were more abundant (relative abundance ratio ≥2) in HDLs with the highest cholesterol efflux capacity. In contrast, three proteins, complement C4-A, alpha-2-macroglobulin, and immunoglobulin mu chain C region, were less abundant (relative abundance ratio <0.5). In terms of nitric oxide production and vascular cell adhesion molecule-1 expression, no proteins showed abundance ratios ≥2 or <0.5 after adjustment. Proteins correlated with the functional parameters of HDL belonged to diverse biological categories.CONCLUSIONS: In summary, this study ranked proteins showing higher or lower abundance in HDLs with high functional capacities and newly identified multiple proteins linked to cholesterol efflux capacity.

Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel / Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers

Las agammaglobulinemias primarias (AP) resultan de alteraciones específicas en las células B, lo cual, conduce a baja producción de anticuerpos. La sospecha diagnóstica se establece con el antecedente de infecciones a repetición, inmunoglobulinas bajas y la ausencia linfocitos B CD19+. El diagnóstico se confirma mediante el análisis genético y la detección de una mutación ligada en el cromosoma X o autosómico recesiva o dominante. En Perú, no hay literatura sobre AP ni reportes sobre el genotipo de los pacientes con sospecha de AP. Bajo este escenario, se realizó un estudio que describió el genotipo de pacientes con sospecha de AP. Se encontraron 20 pacientes con mutaciones en el gen BTK y una mutación autosómica recesiva IGHM. Se hallaron 13 mutaciones hereditarias y siete mutaciones de novo. Se concluye que las AP son, en su mayoría, mutaciones en el gen BTK que corresponden con AP ligadas al cromosoma X.

Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes. The diagnosis is confirmed by genetic analysis and the detection of a mutation linked to the X or autosomal recessive or dominant chromosome. In Peru, there is no literature on primary agammaglobulinemia and no reports on the genotype of patients with suspected primary agammaglobulinemia. Under this scenario, a study was performed to describe the genotype of patients with suspected primary agammaglobulinemia. Twenty (20) patients were found with mutations in the BTK gene and an autosomal recessive IGHM mutation. Thirteen (13) hereditary mutations and seven de novo mutations were found. It is concluded that the group of primary agammaglobulinemia are mostly mutations in the BTK gene, corresponding to X-linked agammaglobulinemia.

Analysis of mutation in heavy chain-micro (microHC) gene in a Chinese patient with congenital agammaglobulinemia / 中华儿科杂志

<p><b>OBJECTIVE</b>Mutation in the heavy chain micro (microHC) gene causes a rare type of autosomal recessive agammaglobulinemia. Here we report the molecular and clinical characterization of a compound heterozygous mutation in the microHC gene in a patient with autosomal recessive agammaglobulinemia firstly from China.</p><p><b>METHOD</b>A one-year and ten-month-old male patient and his parents were enrolled in this study. No mutation was found in BTK gene. The microHC gene of the patient and his parents were amplified by polymerase chain reaction (PCR) from genomic DNA. Reverse transcription polymerase chain reaction (RT-PCR) was used to amplify the microHC transcripts. Sequencing was performed directly on the PCR products bidirectionally.</p><p><b>RESULTS</b>Since 8 months of age, the patient had had recurrent fever and persistent cough. He suffered an acute right hemiplegia at 11 months of age and swelling and pain of left hip joint and right knee joint at one year and eight months of age. Cerebrospinal fluid routine examination showed that total cell count was 18 x 10(6)/L [normal range (0 - 15) x 10(6)/L], leukocyte count 7 x 10(6)/L [(0 - 15) x 10(6)/L] and biochemical examination showed protein 0.14 g/L (0.15 - 0.45 g/L), glucose 4.68 mmol/L (2.44 - 4.44 mmol/L) and chloride 116.3 mmol/L (120 - 132 mmol/L). Mycobacterium bovis was identified negative by cerebrospinal fluid smear examination. No obvious abnormity was detected on skull CT examination. Hydrothorax examination showed that total cell count was 848 x 10(6)/L, leukocyte count 785 x 10(6)/L and protein 30.8 g/L (< 30 g/L). Poliovirus isolation from stool sample of the patient was negative. The serum immunoglobulin (Ig) profile was IgG 181 mg/L (normal range, 5.09 - 10.09 g/L); IgM 28.8 mg/dl (400 - 1260 mg/dl) and IgA 22 mg/dl (310 - 670 mg/dl), IgE 4.6 U/ml (normal range < 150 U/ml). There were no B-cells but normal percentage of T-cells (67%) and NK cells (32%) were present in the peripheral blood. The patient had a compound heterozygous mutation in the microHC gene:on one allele, there was an alternative splice site mutation in exon 4 (1956 G > A), for which the patient's father was a carrier. Whereas on the other allele, an insert mutation between 170 and 175 in exon 1 with a premature stop codon (170 - 175 insert C, L11fs60X) was identified, for which the patient's mother was a carrier. The insert mutation in exon 1 of microHC gene was firstly reported. To detect the effect of the splice site mutation in exon 4, microHC cDNA of the patient was amplified by semi-nested PCR. The PCR products were purified and sequenced directly. A 136 bp of intron 4 was found in the transcripts and only the secreted isoform with a missense substitution is present in the patient, while synthesis of the membrane isoform is completely abolished.</p><p><b>CONCLUSION</b>This is the first case with autosomal recessive agammaglobulinemia with compound heterozygous mutation in the microHC gene reported from China. A novel mutation in exon 1 was found.</p>

Relación entre inmunoglobulinas sericas / Relationship between seric immunoglobulins and oral health

El objetivo de este trabajo fue valorar los niveles de anticuerpos sericos: inmuno globulina G (IgG), inmunoglobulina M (IgM) e inmunoglobulina A (IgA) anti-Streptococcus mutans y anti-Lactobacillus acidophilus, y relacionarlos con el estado clinico-bucal de un grupo de estudiantes del noroeste argentino. La determinacion de inmunoglobulinas sericas se realizo por la tecnica de ELISA. Simultaneamente se efectuo el examen clinico de los estudiantes determinando indice CPO (cariados-perdidos-obturados), número de caries e indice de placa de O'Leary. Los resultados indicaron que:1)existe una relacion directa entre los niveles sericos de IgG e IgM anti-Streptococcus mutans y anti-Lactobacillus acidophilus con el indice CPO y el numero de caries, 2) la concentracion de IgA serica contra estos dos microorganismos es inversamente proporcional al Indice CPO y el numero de caries. 3)No se encontro relacion entre el Indice O'Leary y las inmunoglobulinas adosadas. 4) Los niveles sericos de IgG, IgM e IgA anti-Streptococcus mutans fueron significativamente mayores que los encontrados para las inmunoglobulinas anti-Lactobacillus acidophilus. Los resultados indicaron que el aumento de IgG e IgM es indicativo de una experiencia cariosa pasada. Esto se deberia al estimulo provocado por las bacterias sobre el sistema inmunitario. El significado de los resultados obtenidos con la IgA serica no esta claro, por lo que consideramos necesario continuar con trabajos posteriores.

Registro de Relación centrica utilizando la tecnica power centric / Centric relation determination using the power centric technique

Una variedad de distintas tecnicas clinicas estan corrientemente en uso para obtener registros de relación centrica (R.C.). Todas ellas envuelven algunos tipos de manipulación de la mandíbula seguida por posicionamiento de un medio (cera o cemnto) para capturar las improntas cuspideas y de este modo montar los modelos.LLa tecnica de registro Power Centric, usando dos trozos de cera de mordida, es una tecnica abocada por Roth. Esta incorpora los beneficios de la manipulacion mandibular y un tope anerior, para registrar la posicion mas anterosuperior de los condilos en sus respectivas cavidades glenoideas. El tope anterior (de canino a canino) es fabricado con cera Delar Blu y posicionado usando Manipulacion Bimanual. Una vez endurecido el tope anterior, se confecciona el tope posterior (a nivel de molares) registrando de este modo la posicion mas anterosuperior de los condilos usando la propia musculatura del paciente y una suave manipulacion del operador.

Significance of iomantibody to hepatitis C virus in Egyptian patients with chronic hepatitis C

This study was carried out on 30 patients suffering from chronic HCV infection. It was found that the frequency of IgM anti-HCV in these patients was 43.3%. The frequency was 54.5% and 36% in patients with and those without schistosomal ova, respectively. This difference was statistically insignificant. Presence or absence of IgM-HCV did not affect liver functions in studied patients. 6 patients in this study showed normal liver functions, while liver biopsy showed chronic persistent hepatitis and unresolved hepatitis in 66.8% of them. Also, IgM anti-HCV could be documented in any one of them. There was significant correlation between severity of liver pathology and presence of IgM-HCV. IgM-HCV was present in 55.6% of patients with chronic active hepatitis [CAH] with or without cirrhosis, while IgM-HCV was present in only 30% of patients with chronic persistent hepatitis [CPH] and unresolved hepatitis. Liver function tests did not reflect the severity of underlying liver pathology in patients with chronic HGV infection. Presence or absence of schistosomal ova did not affect frequency of detection of IgM-HCV in patients with chronic HCV infection. Presence of IgM-HCV usually associated with severe underlying liver pathology [CAH + cirrhosis]

Granulomatose de Wegener / Wegener's granulomatosis

Granulomatose de Wegener (GW) é uma vasculite necrosante sistêmica cuja tríade clássica é composta por granulomas e vasculites necrosantes em vias aéreas e pulmöes e glomerulonefrite necrossante. Apresenta grande variedade de sintomas, porém as queixas mais características säo devidas ao comprometimento do trato respiratório e/ou dos rins. As manifestaçöes laboratoriais säo inespecíficas e, desde 1985, quando anticorpos anticitoplasma de neutrófilos (ANCA) foram descritos em soros de pacientes com GW, estes anticorpos têm sido usados tanto para diagnóstico como para monitorizaçäo da resposta terapêutica. A patogênese da doença é ainda desconhecida e o tratamento é baseado na supressäo da resposta imunológica com corticosteróide e ciclofosfamida

Inmunoglobulina A - G - M y fraccion C3 del complemento, durante la lactancia a 3.620 mts. sobre el nivel del mar / Immunoglobulin A - G - M and fraction complement C3 during breast feeding at 3.620 meters above sea level

Se presenta un estudio de la composicion de algunos elementos inmunologicos durante el periodo inicial de lactancia. Se cuantifican las concentraciones totales de lg A total lg G, lg W y fraccion C3 del Complemento en la leche proveniente de 39 madres con embarazo de termino a las 24 horas y 72 horas de ocurrido el parto normal y habiendo sido el producto eutocico. Las concentraciones halladas de las inmunoglobulinas no fueron diferentes en las dos etapas tomadas. En relacion a los valores esperados de acuerdo a las tablas de referencia, los niveles hallados de las inmunoglobulinas fueron elevadas, en cambio el nivel de la fraccion C3 fue muy bajo, todos estos valores fueron significativamente diferentes, con las tablas de referencia, los niveles altos de lgA especialmente lgG, lgM y los niveles bajos de C3 parecen indicar una respuesta inmunologica activa.

Frecuencia de linfocitos portadores de IgE en pacientes atopicos / Frequency of IgE on the B-Lymphocytes of the atopic patients

Empleando la tecnica de inmunofluorescencia directa se estudio la presencia de receptores de tipo IgE en la membrana de los linfocitos de 30 pacientes atopicos comparativamente con un grupo control constituido por 37 personas. Los resultados mostraron que el grupo atopico presenta un porcentaje de linfocitos de 9,63 mas o menos 2,66 que portan tal receptor frente el 1.77 mas o menos 0,37 presentado por el grupo control. Como hecho interesante se encontro una disminucion estadisticamente significativa para receptores IgM en atopicos, en cambio no hubo diferencia para IgA. La cuantificacion serica de IgE e IgA mostro un aumento para IgE y una disminucion para IgA