Pulmonary embolism in very elderly patients. A diagnostic challenge. / Embolia pulmonar en los pacientes muy ancianos. Un reto diagnóstico.

BACKGROUND: Diagnosing pulmonary embolisms can be challenging, given that its presentation shares clinical manifestations with other conditions. For patients 80 years of age or older, the healthcare challenge increases due to associated comorbidity when compared with younger patients (<80 years). OBJECTIVE: The aim of our study was to report the incidence of pulmonary embolism in elderly patients in our setting and identify differences in the clinical manifestations, comorbidity and laboratory parameters between these 2 groups of patients. METHOD: We conducted a hospital-based, case-control study to review the pulmonary embolisms diagnosed in our centre using computed tomography pulmonary angiography between 2013 and 2016. RESULTS: The study included 413 patients, 124 of whom were 80 years of age or older, with a median age of 72 years (IQR, 58-81). The typical presentation triad was uncommon and showed no differences between subgroups. The main symptoms presented by these groups were dyspnoea (73.4% vs. 63.7% for the elderly and younger groups, respectively; P=.055), chest pain (26.6% vs. 39.5%; P=.013) and cough/haemoptysis (31.1% vs. 18.9%; P=.021). The elderly group had more comorbidity (4.88±2.55 vs. 2.89±2.85; P=.0001). CONCLUSION: Thirty percent of the pulmonary embolisms occurred in the elderly group. The typical presentation form was uncommon. We detected significant differences in individual symptoms, comorbidity and laboratory parameters compared with the younger patients.

Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families.

Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.

Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families

Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.

Hiperplasia nodular de las glandulas de Brunner: Presentacion de un caso y revision de la literatura / Bruner's gland hyperplasia: case report and literature review

Bruner's gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunner's gland.

Hiperplasia nodular de las glandulas de Brunner: Presentacion de un caso y revision de la literatura / Bruners gland hyperplasia: case report and literature review

Bruners gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunners gland. (AU)

Transposicion de cerumen en casos de otomicosis / Cerumen transposition in cases of otomycosis

La otomicosis es una enfermedad del Conducto Auditivo Externo (CAE) que con frecuencia se hace de difícil manejo como consecuencia de diferentes factores atribuibles al microorganismo y al paciente. El cerumen es un producto de las glándulas localizadas en la piel del CAE que tiene propiedades antimicóticas, bacteriostáticas y repelente de insectos. Bajo estas consideraciones se realiza la transposición de cerumen de personas sanas a otras con otomicosis de difícil manejo. Los resultados del cultivo antes de la transposición fueron Aspergillus (níger y flavus) 73.7 por ciento y Cándida (albicans y no albicans) 26.3 por ciento. Después de la colocación de cerumen de donador sano, se obtuvo mejoría total con 203 aplicaciones en un lapso de 1 a 3 meses.

[Bruner's gland hyperplasia: case report and literature review]. / Hiperplasia nodular de las glándulas de Brünner: presentación de un caso y revisión de la literatura.

Bruner's gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunner's gland.

Hiperplasia nodular de las glándulas de Br³nner: presentación de un caso y revisión de la literatura. / [Bruners gland hyperplasia: case report and literature review]

Bruners gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunners gland.

Papilomatosis laríngea en niños: uso de autovacuna / Larynx papilomatosis in chlidren: use of selfvaccine

Se presentan cuatro casos de tratamiento con autovacuna en papilomatosis laríngea infantil. La preparación de la autovacuna se encuentra a nuestro alcance; como la respuesta y resultados han sido satisfactorios, se presenta este informe para ayudar a solucionar esta patología que a veces es mortal y de difícil manejo

Enfermedad de Gorham: reporte de dos casos en el Instituto Nacional de Cancerología / Gorham's disease: a two cases report at Instituto Nacional de Cancerología

La enfermedad de Gorham, también conocida como enfermedad de desaparición ósea u osteolisis masiva, es considerada una patología rara de causa desconocida y pronostico impredecible, que se caracteriza histológicamente por la presencia de angiomas cavernosos óseos con fibrosis medular, que se traducen en absorción del hueso. Las modalidades de tratamiento utilizadas entre las que se incluyen radioterapia y cirugía, la mayoría de las veces resultan ineficaces para detener el proceso. Se hace la revisión de dos casos con localización en la cintura escapular que ilustran la historia natural de la enfermedad, uno de ellos fatal por el compromiso pulmonar con quilotorax

¿Fracaso en septoplastia? / Septoplasty failure?

Tradicionalmente se ha puesto toda la atención en la corrección de los factores septales para resolver la patología de esta estructura; pero con base en el análisis de los casos de fracaso se pudo obtener una considerable responsabilidad en los elementos extraseptales como la bulla etmoidal, la apófisis unciforme o el cornete medio. Además se pone en tela de juicio el papel de los rayos x simples y se realiza una propuesta para el manejo quirúrgico de estas alteraciones, con resultados del 100 por ciento de éxito, siendo igual la técnica en niños y en adultos, lo que va en contra del mito de cirugías conservadoras en niños. Es imprescindible tomar tomografías computarizadas para un diagnóstico y manejo integral

Mapping of the antigenic determinants of the Leishmania infantum gp63 protein recognized by antibodies elicited during canine visceral leishmaniasis.

The gp63 gene encoding the major surface antigen of Leishmania infantum has been cloned and sequenced. In spite of the overall sequence homology with the gp63 genes from other Leishmania species, particularly with the constitutively expressed Leishmania chagasi Gp63 gene, the carboxy-terminal ends of these genes are clearly divergent (62% homology). To study the prevalence of anti-gp63 antibodies in the sera from dogs with visceral leishmaniasis, a recombinant L. infantum gp63 protein was expressed in Escherichia coli. It was found that 100% of the sera from these dogs recognized the recombinant gp63 protein, suggesting that it must function as a potent B cell immunogen during natural canine visceral leishmaniasis. However, heterogeneity in the level of response was observed. Fine mapping of the antigenic determinants was performed by means of 6 overlapping subfragments of the gp63 protein and by the use of a library of synthetic peptides. The data showed that there is some degree of immunological restriction in the recognition of the protein since reactivity was observed preferentially against the most divergent region. The epitope mapping of this region showed 2 immunodominant peptides the response to which seems to be preferentially of the IgG2 type.

Characterization of the antigenic determinants of the Leishmania infantum histone H3 recognized by antibodies elicited during canine visceral leishmaniasis.

In the present study we show that sera from dogs naturally infected with the protozoan parasite Leishmania infantum contain antibodies that specifically react with the parasite histone H3. Using synthetic peptides covering the complete sequence of the protein we located the linear antigenic determinants within the 40 amino-terminal amino acids of the molecule. In addition to the complete form of the protein (rLiH3), two regions of the Leishmania histone H3 were expressed as recombinant proteins: the rLiH3-Nt fragment containing the 39 amino-terminal amino acids and the rLiH3-Ct fragment containing the 90 carboxyl-terminal residues. Competition experiments using the protein fragment rLiH3-Nt as competitor confirmed that the antigenic determinants of histone H3 are confined to the amino-terminal domain. This domain, which is believed to be exposed on the nucleosome surface, is also the most evolutionarily divergent region of the L. infantum histone H3. Visceral leishmaniasis (VL) sera do not react with mammalian histones, an indication that the anti-histone response elicited during Leishmania infection is triggered by the parasite histone. The results of the prevalence of anti-histone H3 antibodies in canine VL sera together with the sequence-specific characteristics of the amino-terminal region of L. infantum histone H3 indicate that the recombinant protein rLiH3-Nt may be of use for diagnosis of canine VL.

Mapping of the linear antigenic determinants of the Leishmania infantum hsp70 recognized by leishmaniasis sera.

Mapping of antigenic determinants of the Leishmania infantum Hsp70 was studied by analysis of the reactivity of sera from dogs with natural visceral leishmaniasis against a collection of peptides representing overlapping sequences of the Hsp70. Despite the considerable variation in the immune response among individuals three immunodominant regions were revealed encompassing residues 241 to 260 (region I), 435 to 469 (region II) and from amino acid 601 to the carboxyl-terminal end of the protein (region II. Since anti-peptide H17 antibodies purified from a pool of leishmaniasis sera recognized the L. infantum Hsp70 and since they did not react with the homologous Hsp70s from other trypanosomatids, such as Trypanosoma cruzi, Trypanosoma rangeli and Leishmania panamensis, it was concluded that peptide H17 (region II contains an immunodominant B cell species-specific epitope. Our data indicate, however, that the complete recombinant L infantum Hsp70 protein cannot be used as a disease-specific tool for serodiagnosis since it is also recognized by the sera from patients with Chagas' disease.

Neurinoma del nervio facial: presentación de un caso y revisión de la literatura / Facial nerve neurinoma

Desde 1930, año en que se hizo la primer descripción por Schmidt ( 1) hasta nuestros dias, solo se han reportado un poco más de 300 casos en la literatura indexada. Este caso en particular se detecto en el preoperatorio y las imagenes diagosticas tanto de Scanner como de Resonancia son una verdadera rareza tanto para Otorrinolaringologos, como para Radiologos. En la revision literaria se hace enfasis en los aspectos clinicos, el diagostico y el manejo quirurgico actual

During active viscerocutaneous leishmaniasis the anti-P2 humoral response is specifically triggered by the parasite P proteins.

In this work we show that in the sera from dogs naturally infected with the protozoan parasite Leishmania infantum there are antibodies that react specifically against the parasite acidic ribosomal proteins LiP2a and LiP2b, and that each one of the Leishmania P proteins elicits a specific humoral immune response. Using synthetic peptides, the antigenic epitope of these proteins has been mapped in a single region located adjacent to the C-terminal domain highly conserved among the eukaryotic P proteins. The anti-P antibodies elicited during the Leishmania infection do not recognize the conserved C-terminal domain of the parasite P proteins, in contrast with the findings reported in Chagas' disease or systemic lupus erythematosus. The antigenic epitopes of the LiP2a and LiP2b are almost identical in amino acid sequence. No reactivity against Trypanosoma cruzi and human P proteins was found in sera from L. infantum-infected dogs.

[Accumulation and depuration of aldrin in the oyster Crassostrea rhizophorae, of the Ciénaga Grande de Santa Marta (Colombian Caribbean)]. / Acumulación y depuración de aldrin en la ostra Crassostrea rhizophorae de la Ciénaga Grande de Santa Marta (Caribe Colombiano).

Laboratory experiments were conducted at different salinities (35, 26 and 17/1000) to determine accumulation and depuration rates of the organochlorine compound aldrin by the oyster Crassostrea rhizophorae, Ciénaga Grande de Santa Marta (Colombian Caribbean). Residual levels were detected in tissues after 24 hours of exposure, showing increases directly related to the exposure concentration. For all the exposure concentrations the highest retention values were measured at 26/1000 salinities, followed by 17/1000, and the lowest values at the highest salinity. The highest bioconcentration values were 96115.5 (at 26/1000), 37938.9 (at 17/1000), and 22605.1, (35/1000) times the environmental concentration. The depuration process varied across salinity levels. At 26/1000 there was a clear decrease in the residual levels during the first five days, eliminating in this period the same amount as oysters kept at 17/1000 for 20 days and surpassing the amount eliminated by those kept at 35/1000 for 20 days. A rapid decrease in the amount of residues is followed by a slow elimination of the aldrin remaining in tissues.

Genomic organization and expression of two independent gene arrays coding for two antigenic acidic ribosomal proteins of Leishmania.

In the present paper we describe the isolation and characterization of four novel genes of the parasitic protozoan Leishmania infantum. These genes are organized as two independent gene clusters, and they are related by nucleotide sequence to eukaryotic genes encoding acidic ribosomal proteins. Each gene cluster contains two tandemly linked genes coding for identical proteins. Each of the proteins coded by the gene clusters (called LiP and LiP') are highly divergent in sequence, showing the characteristic features of eukaryotic P-proteins from the P2 group. In spite of the sequence conservation of the coding regions of each of the genes in the cluster, the 5'- and 3'-untranslated regions are heterogeneous in sequence. The analysis of the expression of these genes indicates that logarithmic phase promastigotes show increased levels of LiP- and LiP'-specific transcripts compared with stationary phase promastigotes. The steady state RNA levels of the LiP and LiP' genes show a similar dependence of the growth phase of the parasite. Using specific probes for the divergent 3'-untranslated regions of each of the genes, it was found that the abundance of the mature transcripts is different even when the transcripts are derived from the same gene cluster. These findings probably indicate that the 3'-untranslated regions may influence the stability or turnover of the transcripts derived from both LiP and LiP' gene clusters.

Molecular characterization of a Leishmania donovani infantum antigen identified as histone H2A.

A Leishmania donovani infantum promastigote cDNA expression library was screened with a serum obtained from a dog naturally infected with this parasite. One of the positive clones obtained revealed nucleotide sequence similarities with the histone H2A genes from various organisms. Northern blot analyses and sequence data of three independently isolated cDNA clones indicated that the Leishmania H2A mRNAs are polyadenylated, as are the basal histone mRNAs of higher eukaryotes and the histone mRNAs of yeast. The analysis of the genomic distribution of the DNA coding for histone H2A suggested that, in L. d. infantum, there are at least four genes coding for the H2A protein. It is likely that there is a simultaneous expression of at least two of the H2A genes since differences in nucleotide sequence between two of the sequenced cDNAs were observed. Affinity-purified antibodies against the beta-galactosidase-fused H2A protein recognize specifically a Leishmania protein band with a molecular mass of 14 kDa.