Parenchymal cysts of the lower neck

We report on the appearance of parathyroid, thyroid, and cervical thymic cysts on computed tomography (CT) scans. The differential diagnostic considerations include thyroglossal and branchial cleft cysts, cystic hygromas, primary and metastatic tumors, dermoids, teratomas, choristomas, tracheoesophageal and cervical bronchogenic cysts, as well as cystic neuromas, abscesses, and lipomas. Most cannot be differentiated using CT alone and require clinical observations, laboratory testing, and surgical and histologic findings for definitive diagnosis. Our experience with these rare lesions is reported, and the differential diagnoses are discussed.     

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

An X;8 translocation was identified in a 27-year-old female patient manifesting multiple exostoses and autism accompanied by mental retardation and epilepsy. Through molecular analysis using yeast artificial chromosomes (YACs) and cosmid clones, the translocation breakpoint was isolated and confirmed to be reciprocal within a 5'-GGCA- 3' sequence found on both X and 8 chromosomes without gain or loss of a single nucleotide. The translocation breakpoint on the X chromosome occurred in the first intron of the gastrin-releasing peptide receptor (GRPR) gene and that on chromosome 8 occurred approximately 30 kb distal to the 3' end of the Syndecan-2 gene (SDC2), also known as human heparan sulfate proteoglycan or fibroglycan. The GRPR gene was shown to escape X-inactivation. A dosage effect of the GRPR and a position effect of the SDC2 gene may, however, contribute the phenotype observed in this patient since the orientation of these genes with respect to the translocation was incompatible with the formation of a fusion gene. Investigation of mutations in these two genes in unrelated patients with either autism or multiple exostoses as well as linkage and association studies is needed to validate them as candidate genes.      

Cytotoxic T lymphocytes recognize structurally diverse, clade-specific and cross-reactive peptides in human immunodeficiency virus type-1 gag through HLA-B53

Human immunodeficiency virus type-1 (HIV-1) cytotoxic T lymphocyte (CTL) epitopes have largely been defined in Caucasian populations infected with clade B virus. Identification of potentially protective CTL epitopes in non-B clade-infected African subjects is important for vaccine development. In a study of CTL responses in clade A-infected Gambians, using cytotoxicity, interferon-gamma (IFN-gamma) enzyme-linked immunospot (ELISpot) and HLA-B53-peptide tetramer assays, we identified three HLA-B53-restricted epitopes in HIV-1 gag p24. CTL specific for an epitope in a highly immunogenic region of the p24 protein showed no cross-reactivity to other HIV-1 clades. Two of the epitopes would not have been predicted from the peptide-binding motif due to the absence of a proline anchor at position 2. Structural analysis of HLA-B53 and its relative, HLA B35, enabled us to re-define the peptide-binding motif to include other P2 anchors. These results demonstrate the value of combined immunological and structural analyses in defining novel CTL epitopes and have implications for HIV-1 vaccine design.     

THE BEliAVIOUR OF WASSERMANN AND KAIIN RFACTIONS IN RESPONSE TO ANTISYPHILITC TREATMENT*

It is recognized that in a study of the behaviour of these serological reactions in rcsponse to treatment, it is important to cop.- sider the types of disease, the duration of infection, the amount of treatment, the kind or drug or drugs used. the scheme of individual dosage, the intcrval of doses, the concomitant usc of two drugs ancl the duration of trcatmcnt. Hmvever, the purpose of this paper is concerned primarily with the early serological reactions in response to treatment with special reference to the types of disease, the duration of infection and the amount of treatment.     

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Genetic and nongenetic factors contribute to development of pseudoexfoliation (PEX) syndrome, a complex, age-related, generalized matrix process frequently associated with glaucoma. To identify specific genetic variants underlying its etiology, we performed a genome-wide association study (GWAS) using a DNA-pooling approach. Therefore, equimolar amounts of DNA samples of 80 subjects with PEX syndrome, 80 with PEX glaucoma (PEXG) and 80 controls were combined into separate pools and hybridized to 500K SNP arrays (Affymetrix). Array probe intensity data were analyzed and visualized with expressly developed software tools GPFrontend and GPGraphics in combination with GenePool software. For replication, independent German cohorts of 610 unrelated patients with PEX/PEXG and 364 controls as well as Italian cohorts of 249 patients and 190 controls were used. Of 19, 17 SNPs showing significant allele frequency difference in DNA pools were confirmed by individual genotyping. Further single genotyping at CNTNAP2 locus revealed association between PEX/PEXG for two SNPs, which was confirmed in an independent German but not the Italian cohort. Both SNPs remained significant in the combined German cohorts even after Bonferroni correction (rs2107856: P_c=0.0108, rs2141388: P_c=0.0072). CNTNAP2 was found to be ubiquitously expressed in all human ocular tissues, particularly in retina, and localized to cell membranes of epithelial, endothelial, smooth muscle, glial and neuronal cells. Confirming efficiency of GWAS with DNA-pooling approach by detection of the known LOXL1 locus, our study data show evidence for association of CNTNAP2 with PEX syndrome and PEXG in German patients.     

Risk factors and outcomes after unplanned extubations on the ICU: a case-control study

Introduction  

Unplanned extubation (UE) is a frequent event during mechanical ventilation in critically ill patients and might be associated with increased morbidity and mortality. However, detailed knowledge of risk factors and outcomes after UE is lacking.     

The Influence of the Recipient's Body Weight on the Probability to Obtain a Heart Transplant—POLKARD HF Registry

Introduction

The aim of the study was to analyze the influence of body weight of the adult heart recipient on the chance to obtain a transplant.

Methods

We analyzed the data from all 658 patients listed for heart transplantation.

Results

During the follow-up period, 325 (49%) of listed patients underwent transplantation with 102 (15%) succumbing before heart transplantation. The mean weight of transplanted patients was 73.7 ± 13.7 kg and 81.2 ± 15.4 kg for those not transplanted (P < .00001). Patients were divided according to body weight in two groups: light = below 80 kg (n = 360) or heavy ≥ 80 kg or above (n = 297). On the transplant list, 111 heavy patients (37%) versus 213 light patients (59%) underwent the procedure, a significant difference.The waiting time among light patients was 255 versus heavy patients of 395 days (P < .005).There was a similar number of deaths before transplantation among the light (n = 56 360 patients; 15.5%) versus the heavy group (49/297; 16%).Upon multivariate Cox mode analysis independent factors related to not receiving a heart transplant were greater weight, systolic blood pressure, pulmonary vascular resistance, Heart Failure Survival Score (HFSS) score and lower N-terminal pro-brain natriuretic peptide (NTproBNP) levels.

Conclusions

Among adult heart transplant candidates, the chance to receive a heart transplant significantly decreased when the recipient's weight exceeded 80 kg. Patients with a body weight more than 110 kg had a poor chance to receive a heart transplantation.     

Three new asterosaponins from the starfish Culcita novaeguineae and their bioactivity

Bioassay-guided fractionation of the active n-BuOH extract of the starfish Culcita novaeguineae resulted in the isolation of three new sulfated steroidal glycosides （asterosaponins） 1, 2 and 3, as active compounds causing morphological abnormality of Pyricularia oryzae mycelia. Compounds 1-3 possess the same pentasaccharide moiety, beta-D-fucopyranosyl-（1→2）-alpha-L-arabinopyranosyl- （ 1 → 4 ）-[- beta-D- quinovopyranosyl- （ 1 →2 ） ]-beta-D-xylopyranosyl- （ 1 → 3 ）-beta-D-quinovopyranosyl, linked to C-6 of 3beta-sulfated steroidal aglycones and differ from each other in the side chains.     

Selective ligand-induced intracellular calcium changes in a population of rat isolated gastric endocrine cells

BACKGROUND & AIMS: Peripheral regulation of acid secretion depends mainly on stimulation or inhibition of the three major gastric endocrine cells (enterochromaffin-like, gastrin, and somatostatin). The aim of this paper was to define physiological responses of enterochromaffin-like, gastrin, and somatostatin cells in a mixed endocrine cell population by measuring ligand-selective changes of intracellular calcium ([Ca2+]i) in individual cells. METHODS: Endocrine cells were enriched from a rat gastric cell suspension by elutriation, a density-gradient fractionation, and a 48-hour short-term culture. [Ca2+]i responses of individual cells to various ligands such as gastrin/carboxy-terminal cholecystokinin octapeptide and selective cholecystokinin antagonists, carbachol, and gastrin-releasing peptide were monitored using video imaging in a perfusion chamber. Characteristic [Ca2+]i changes distinguished the three cell types, confirmed by immunostaining. RESULTS: All enterochromaffin-like cells respond to cholecystokinin-B receptor stimulation, but only a few respond to carbachol. Gastrin cells respond to both gastrin-releasing peptide and carbachol but not to cholecystokinin-receptor agonists. Somatostatin cells have both stimulatory cholecystokinin-A and cholecystokinin-B receptors and inhibitory muscarinic receptors. All cells have inhibitory somatostatin receptors. CONCLUSIONS: Calcium- signaling responses of gastric endocrine cells are distinctive. This allows individual cell types in a mixed population to be characterized and permits an analysis of the hormones and transmitters that act directly on a specific cell type. (Gastroenterology 1996 Jun;110(6):1835-46)