Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). Bone manifestations

This is a benign disease from the group of histiocytoses with a slow progressive course. Bone manifestations are extranodal disease manifestations. 3 cases of the disease in females of 21, 42 and 49 years old with involvement of ilial, tibia and femur bones, respectively, are described. Lymph node changes in one patient arose 9 years after the bone involvement. Microscopic bone picture was similar to that in the lymph node. 2 patients received radiation therapy on the affected bone and were discharged from the hospital with the improvement and 1 patient was treated surgically.     

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): case report with nodal and diffuse muco-cutaneous involvement

PURPOSE: Based on a review of the background of MRI using inhaled hyperpolarized noble gases first experiences and perspectives for functional imaging in emphysema patients are presented. MATERIAL AND METHODS: In vonventional MRI, the spin density of protons, which is defined by the Boltzmann equilibrium, is the source of the imaging signal. Since proton density in the lungs is low and multiple air-tissue interfaces exist, MRI of the lung parenchyma is unsatisfactory. The possibility to artificially enrich the spin density (hyperpolarization) in noble gases (H3-3, Xe-129) by optical pumping results in a non-equilibrium polarization five orders of magnitude higher than the Boltzmann equilibrium. Hyperpolarized noble gases can then be applied as "inhaled contrast media" using a dedicated application device. At the MR unit several prerequisites must also be fulfilled: transmit-receive coil, boradband amplifier and fast sequences with low flip angles. These are essential for dynamic scans in breath-hold tecnique of the highly diffusible He-3 or the well soluble Xe-129. RESULTS: He-3 and Xe-129 have been successfully applied for imaging of the ventilated airspaces. Besides the well-known narcotic effects of Xenon no adverse effects were observed. A homogeneous distribution of signal intensity can be regarded as a normal findings in people without lung disease. Obstructive diseases and emphysematous changes lead to generalized or localized signal inhomogeneities. Most likely they are caused by disorders of the distribution of ventilation bases on a different functional vehavior of different alveolar regions. By making use of the paramagenetic properties of oxygen, He-3 can also be used for local measurements of oxygen partial pressure in the lung. Xe-129 exhibits a different chemical shift within alveoli, interstitial space and vessels which can be measured by MRI. CONCLUSIONS: MRI using inhaled hyperpolarized noble gases is a functional imaging modality with high spatial and/or temporal resolution. First studies for early detection of obstructive lung diseases and disorders of distribution of ventilation in emphysema are promising.     

Relation between lipoprotein(a) concentrations in patients with acute-phase response and risk analysis for coronary heart disease

This study investigated whether lipoprotein(a) [Lp(a)] is an acute-phase reactant that can cause important bias in risk factor analysis for coronary heart disease among patients with an acute-phase response (APR patients). To determine whether serum Lp(a) concentrations increase among APR patients, we compared the Lp(a) concentrations and apolipoprotein(a) [apo(a)] phenotypes of 100 controls with those of a random sampling of 100 APR patients. Serum Lp(a) concentration was measured by ELISA; Lp(a) phenotyping was performed by electrophoresis on sodium dodecyl sulfate-polyacrylamide gel. Lp(a) was significantly (P <0.0001) higher among APR patients (mean +/- SD 0.300 +/- 0.284 g/L) than among controls (0.118 +/- 0.193 g/L) even though the distribution of apo(a) phenotypes did not differ significantly. The 100 APR patients were grouped into 4 categories: 48 patients with infections, 25 postoperative patients, 17 patients with tumors, and 10 patients with other diseases, all of whom showed substantially higher Lp(a) values than did the controls. For the S5, S4S5, S5S5, and S4 phenotypes, the mean concentrations of serum Lp(a) were substantially higher among the APR patients.     

Two acute monocytic leukemia (AML-M5a) cell lines (MOLM-13 and MOLM-14) with interclonal phenotypic heterogeneity showing MLL-AF9 fusion resulting from an occult chromosome insertion, ins(11;9)(q23;p22p23)

We describe two new human leukemia cell lines, MOLM-13 and MOLM-14, established from the peripheral blood of a patient at relapse of acute monocytic leukemia, FAB M5a, which had evolved from myelodysplastic syndrome (MDS). Both cell lines express monocyte-specific esterase (MSE) and MLL-AF9 fusion mRNA. Gene fusion is associated with a minute chromosomal insertion, ins(11;9)(q23;p22p23). MOLM-13 and MOLM-14 are the first cell lines with, and represent the third reported case of, MLL gene rearrangement arising via chromosomal insertion. Both cell lines carry trisomy 8 which was also present during the MDS phase, as well as the most frequent trisomies associated with t(9;11), ie, +6, +13, +19 variously present in different subclones. Despite having these features in common, differences in antigen expression were noted between the two cell lines: that of MOLM-13 being CD34+, CD13-, CD14-, CD15+, CD33+; whereas MOLM-14 was CD4+, CD13+, CD14+, CD15+, CD33+. Differentiation to macrophage-like morphology could be induced in both cell lines after stimulation with INF-gamma alone, or in combination with TNF-alpha, which treatment also induced or upregulated, expression of certain myelomonocyte-associated antigens, including CD13, CD14, CD15, CD64, CD65 and CD87. Together, these data confirm that both cell lines are likely to be novel in vitro models for studying monocytic differentiation and leukemogenesis.     

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits

Haplotype analysis in a collaborative collection of 143 families with juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten (Spielmeyer-Vogt-Sj?gren) disease has permitted refined localization of the disease gene, CLN3, which was assigned to chromosome 16 in 1989. Recombination events in four maternal meioses delimit new flanking genetic markers for CLN3 which localize the gene to the chromosome interval 16p12.1-11.2 between microsatellite markers D16S288 and D16S383. This narrows the position of CLN3 to a region of 2.1 cM, a significant reduction from the previous best interval. Using haplotypes, analysis of the strong linkage disequilibrium that exists between genetic markers within the D16S288-D16S383 interval and CLN3 shows that CLN3 is in closest proximity to loci D16S299 and D16S298. Analysis of markers across the D16S288-D16S383 region in four families with a variant form of JNCL characterized histologically by cytosomal granular osmiophilic deposits (GROD) has excluded linkage of the gene locus to the CLN3 region of chromosome 16, suggesting that JNCL with GROD is not an allelic form of JNCL.