Discrimination between fibroelastic deficiency and Barlow disease using parameters of mitral annulus derived from real-time three-dimensional echocardiography

Background

Discrimination between fibroelastic deficiency (FED) and Barlow disease (BD) is crucial for decision making in mitral valve surgery as BD is a more complex lesion demanding high surgical skill and experience. In our study we focused on the differentiation of FED from BD using three-dimensional (3D) echocardiographic parameters of the mitral annulus assessed by the mitral valve quantification (MVQ) program.

Methods

We examined 90 patients (30 women) with FED and BD aged 37–76 years. The following parameters of the mitral annulus were assessed using the MVQ program: bicommissural and anteroposterior diameter of the mitral annulus, 3D annulus circumference, minimal surface spanning the annulus, and mitral annulus height. The study group was subdivided into 2 subgroups according to the intraoperative findings: the first subgroup comprised 60 individuals (19 women) with FED and the second subgroup comprised 30 patients (11 women) with BD. The discrimination between patients with BD and FED was carried out by univariate as well as multivariate statistical methods.

Results

BD and FED patients differed highly significantly in all parameters of the mitral annulus (t test), values of all parameters in BD being higher. In the classification tree modeling, the diagnoses were completely separated by a single parameter—mitral annulus height—with a cutoff value of 6.55 mm. This value and higher stands for BD. Multivariate analysis treating all the variables showed similar results, so the use of a single indicator variable is preferable.

Conclusion

The only parameter—mitral annulus height—can be used for discrimination between Barlow disease and fibroelastic deficiency.     

Is cyclophosphamide effective in patients with IgM-positive minimal change disease?

Background

We analyzed the impact of immunoglobulin M (IgM) positivity on the relapse-free interval post completed course of cyclophosphamide (CYC) treatment in patients with steroid-dependent nephrotic syndrome (SDNS) and minimal change disease (MCD).

Methods

This was a retrospective chart review of all children who received CYC for SDNS and MCD between 1988 and 2009. Patients were divided into three groups based on kidney biopsy: MCD without immunoglobulin M (IgM) positivity (IgM?), MCD with IgM-positive immunofluorescence (IF) only (IgM+), and MCD with IgM-positive IF and electron-dense deposits on electron microscopy (IgM++). The relapse-free time interval to the first relapse post-CYC therapy or up to 48?months of follow-up (if no relapse occurred) was used for survival analysis.

Results

Forty children aged 1.5–12.3?years (15 were IgM?, 16 were IgM+, 9 were IgM++) received a cumulative CYC dose of 175?±?30?mg/kg. The overall relapse-free survival time was 75?% at 12?months, 64?% at 24?months, 59?% at 36?months, and 56?% at 48?months, with no significant differences between the IgM groups (p?=?0.80).

Conclusions

Based on our results, we conclude that more than 50% of our SDNS patients with MCD remained relapse-free 4?years post-CYC treatment. No significant difference in the response to CYC was observed between patients with or without IgM positivity.     

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES). Consistent with observations in several other immunodeficiency disorders, a review of SIOD patients showed that approximately a fifth of SIOD patients have some features of autoimmune disease. To our best knowledge this case represents the first patient with SIOD and rituximab resistant ES and the first study of autoimmune disease in SIOD.     

What is a "normal" right ventricle?

AIMS: The aim of this project was to define normal values of right ventricular (RV) volumes and ejection fraction (EF) in healthy population using 2D echocardiography. METHODS AND RESULTS: The "patient" group comprised 91 healthy volunteers aged 17-62 years. RV volumetry was based on ellipsoidal shell model method. Left ventricular (LV) volumes were assessed by Teichholz formula. All volumes were indexed per m(2) of BSA and the rate distribution of measured and calculated values were evaluated. The normal range of individual parameters was expressed as mean value+/-2 standard deviations (delta). A pair test was used to compare corresponding results of the RV and LV measurements. The regression analysis was used to test the relationship between LV and RV volumes and age. Indexed enddiastolic and endsystolic RV volumes were 79.1+/-29.9ml and 32.6+/-19.7ml, respectively, EF being 50+/-9.7% in men and 58+/-13.6% in women. No correlation with patient's age was observed. CONCLUSION: Enddiastolic and endsystolic volumes of RV were significantly higher than those of LV. EF of RV was lower as compare to LV. Right ventricular EF in men was lower than that in women. There was no correlation between EF and patient's age.     

RT-3D TEE: characteristics of mitral annulus using mitral valve quantification (MVQ) program

Aim: To evaluate the mitral annulus characteristics in significant mitral regurgitant lesions using mitral valve quantification (MVQ) program. Methods: We examined 117 patients (39 women), aged 18–86. Patients were separated into four subgroups: 35 patients with ischemic mitral regurgitation, 42 patients with isolated prolapse of the mitral valve, 12 patients with Barlow disease, and 28 healthy controls. Mitral annulus was examined in end‐systole. The following parameters were assessed: anteroposterior and intercommissural diameter, perimeter of annulus, area of minimal surface spanning annulus and height of the mitral annulus. A new parameter—mitral annulus height index (height/circumference × 100) was introduced. Values of these parameters in subgroups with mitral pathology were compared with corresponding parameters of control group using Student t‐test. Results: In subgroups with mitral pathology all parameters except mitral annulus height and mitral annulus height index were significantly higher than those in the control group. Mitral annulus height was significantly higher in Barlow disease, significantly lower in mitral prolapse group and comparable to normal controls in the ischemic regurgitation group. Mitral annulus height index was significantly higher in Barlow disease and significantly lower in patients with prolapse and ischemic regurgitation. Conclusions: Barlow disease is characterized by dilation and vertical deformation of the mitral annulus (annulus height and height index increase). Prolapse of the mitral valve and ischemic regurgitation of mitral annulus involve dilation and flattening of the annulus (annulus height decreases in prolapse group significantly, in ischemic regurgitation nonsignificantly, while annulus height index decreases significantly in both subgroups). (Echocardiography 2011;28:461‐467)     

Idiopathic retroperitoneal fibrosis: an unusual cause of low back pain

Retroperitoneal fibrosis (RPF) is a rare inflammatory disease which is characterized by the development of a fibrous process that surrounds the major vessels and organs located within the retroperitoneum. About two thirds of all cases of RPF are idiopathic and are thought to be immunological in origin. Diagnosis of RPF should be considered in patients with unexplained abdominal and low back pain and retroperitoneal lesions. We present a case report of a 59-year-old white male with idiopathic RPF with history of low back pain and weight loss as only symptoms and treated by tamoxifen, corticosteroids, and insertion of JJ endoureteric catheters due to the obstruction of the upper urinary tract.     

Composition and fate of gas and oil released to the water column during the Deepwater Horizon oil spill

Quantitative information regarding the endmember composition of the gas and oil that flowed from the Macondo well during the Deepwater Horizon oil spill is essential for determining the oil flow rate, total oil volume released, and trajectories and fates of hydrocarbon components in the marine environment. Using isobaric gas-tight samplers, we collected discrete samples directly above the Macondo well on June 21, 2010, and analyzed the gas and oil. We found that the fluids flowing from the Macondo well had a gas-to-oil ratio of 1,600 standard cubic feet per petroleum barrel. Based on the measured endmember gas-to-oil ratio and the Federally estimated net liquid oil release of 4.1 million barrels, the total amount of C₁-C₅ hydrocarbons released to the water column was 1.7 × 10¹¹ g. The endmember gas and oil compositions then enabled us to study the fractionation of petroleum hydrocarbons in discrete water samples collected in June 2010 within a southwest trending hydrocarbon-enriched plume of neutrally buoyant water at a water depth of 1,100 m. The most abundant petroleum hydrocarbons larger than C₁-C₅ were benzene, toluene, ethylbenzene, and total xylenes at concentrations up to 78 μg L^-1. Comparison of the endmember gas and oil composition with the composition of water column samples showed that the plume was preferentially enriched with water-soluble components, indicating that aqueous dissolution played a major role in plume formation, whereas the fates of relatively insoluble petroleum components were initially controlled by other processes.     

Intrahost sequence variation in the streptococcal inhibitor of complement gene in patients with human pharyngitis

Selection of new variants of the streptococcal inhibitor of complement protein has been implicated in the perpetuation of epidemics caused by serotype M1 strains of group A Streptococcus (GAS). The frequency at which new streptococcal inhibitor of complement (Sic) variants arise in an infected individual is not known. To study this issue, the sic gene was sequenced in 100 isolates cultured from throat swabs of each of 20 patients with acute pharyngitis caused by serotype M1 GAS. Five patients were infected with GAS populations expressing 2 Sic variants characterized by deletion of a region of the protein. In contrast, no intrahost variation was detected in the number of a pentanucleotide repeat (CAAAA) that controls production of a bacterial cell-surface collagen-like protein by slipped-strand mispairing. Sic variation occurs at a sufficient frequency in vivo to result in mixed infections on the mucosal surface of human hosts, potentially contributing to pathogen survival.     

Day Care Quality and Child Development in Singapore

This paper reports the findings of an investigation into the effects of the day care environment on language development in 122 pre-school children in Singapore. This study examined child progress in which pre- and post assessment scores and the interactive relationship between day care and family environments were taken into account.

Characteristics of 16 day care centres were assessed by the Early Childhood Environment Rating Scale, ECERS (Harms & Clifford, 1980). This rating scale was validated against the views of early childhood experts in Singapore. Observer reliability was also obtained before assessing the centres.

Day care effects were investigated by assessing children at two time points. A pretest was conducted at the beginning of the year and a post-test administered towards the end of the year. The findings of this study indicated that the quality of day care centres as measured by the total score and specific subscales of the ECERS were related to some aspects of language development in children.     

RAG1/2 re-expression causes receptor revision in a model B cell line

The expression of RAG1 and RAG2 is essential for V(D)J rearrangement of the immunoglobulin (Ig) locus in developing B cells. In mature B cells further V(D)J rearrangement is suppressed and RAG1/2 proteins decline to undetectable levels. However, there is evidence that mature B cells in the periphery may re-express RAG1/2. In humans evidence of RAG1/2 re-expression is often linked with an autoimmune state, indicating that further understanding of re-expression may be crucial to understanding immune disorders. We have investigated the molecular consequences of RAG1/2 expression in mature lymphocytes using a cell culture system (M12 and DR3). M12 (IgG+, Igkappa+ and RAG-) is a mouse B cell lymphoma. DR3 is a RAG1+/RAG2+ line derived from M12 by introduction of stable plasmids carrying RAG1 and RAG2 cDNAs. RAG1/2 mediated receptor revision occurs in the DR3 line, as evidenced by both the deletion of the endogenous rearranged Igkappa gene segment (present in the parent M12 lines) and the presence of a new Iglambda rearrangement. Gene expression profiles obtained through microarray analysis and RT-PCR found differences in expression levels between the two lines for: fibronectin, lysyl oxidase, TAP2, B220, Igkappa, TIS11B, HMG2 and DNAPKcs. Thus, the expression of RAG1/2 in a previously RAG- cell line results in multiple changes to the gene expression profile as well as receptor revision. The significance of the changes found in this model of RAG re-expression is discussed.