Reliability of two-dimensional echocardiography in the assessment of clinically significant abnormal hemidiaphragm motion in pediatric cardiothoracic patients: Comparison with fluoroscopy.

OBJECTIVE: To assess the utility and reliability of echocardiographic assessment of hemidiaphragm motion abnormalities in pediatric cardiothoracic patients. DESIGN: Retrospective observational study, with post hoc blinded assessment of echocardiographic and fluoroscopic results. SETTING: Tertiary care center. PATIENTS: Thirty-six consecutive pediatric cardiothoracic patients with suspected hemidiaphragm paralysis were identified and included in the study. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: The results of both echocardiographic and fluoroscopic studies on all patients were included. In addition, blinded review of study results were performed. The sensitivity and specificity of fluoroscopy in identifying hemidiaphragms that needed plication were 100% and 74%, respectively. The positive predictive value was 55%; negative predictive value was 100%. Comparing reported diagnoses with blinded review of the studies showed poor agreement; reviewers agreed with 89% diagnosed as normal, 44% of paralyzed, and 76% of paradoxical hemidiaphragms. The sensitivity and specificity of echo in identifying hemidiaphragms that needed plication were 100% and 81%, respectively. The positive predictive value and negative predictive value were 66% and 100%. Comparing reported diagnoses with blinded review, reviewers agreed with 97% diagnosed as normal, 81% of paralyzed, and 100% of paradoxical hemidiaphragms. Echocardiography was less accurate in discriminating between paralyzed and paradoxical diaphragm motion. Echocardiography was specific for paradoxical motion, since both patients identified by echocardiography were confirmed by fluoroscopy, but it was not sensitive. In nine patients, echo showed paralyzed motion that was identified by fluoroscopy as paradoxical. CONCLUSIONS: This study supports the use of echocardiography in the assessment of diaphragm function. When the diaphragms are clearly visualized by echo, as they are in the majority of cases, the addition of an additional fluoroscopic study adds no clinical value. The differentiation between paralyzed and paradoxical motion is unreliable by both imaging modalities.     

A novel mutation in the last exon of ATRX in a patient with α-thalassemia myelodysplastic syndrome

Abstract:  We describe a patient with acquired alpha-thalassemia myelodysplastic syndrome (ATMDS). A previously healthy 66-year-old man presented with hemoglobin of 9.3 g/dL, mean corpuscular volume 59 fL, and a bone marrow aspirate with increased erythroid precursors and hypolobulated megakaryocytes. Hemoglobin H inclusions were seen in most red cells after 1% brilliant cresyl blue supravital stain of the peripheral blood. At the molecular level, we identified of a novel mutation in the most 3' exon of the ATRX gene ( C GA→ T GA substitution in codon 2407) resulting in a premature termination codon (p.R2407X). This case provides further evidence for a link between ATRX mutations and ATMDS, and suggests a possible role for the conserved Q-box element in ATRX function.     

Small cell carcinoma of the cervix: a clinical and flow-cytometric study.

The clinical course of 14 patients diagnosed with small cell carcinoma of the cervix (SCC) was reviewed and compared to that of 37 cases of undifferentiated large cell nonkeratonizing carcinoma (LCNK). We observed the following differences between the two: SCC patients had a higher incidence of pelvic wall involvement and distant metastasis; the development of progressive disease was more frequent in SCC than in LCNK patients; median survival time was 9 months in SCC and 40 months in LCNK patients; flow cytometry revealed aneuploidy in all SCC and in 30% of the LCNK patients; the mean DNA index was 2.24 in SCC, significantly higher than in LCNK (1.15). DNA index in cases of SCC was related to survival time. SCC of the cervix is an extremely aggressive tumor, even when compared to other undifferentiated cervical cancers. Aneuploidy is a consistent feature and thus helpful for diagnosis. Due to the wide range of values, the DNA index cannot be used for diagnostic purposes, but it is of prognostic importance in SCC cases.     

Constitutive secretion of the granule chymase mouse mast cell protease-1 and the chemokine, CCL2, by mucosal mast cell homologues

BACKGROUND: The mucosal mast cell (MMC) granule-specific beta-chymase, mouse mast cell protease-1 (mMCP-1), is released systemically into the bloodstream early in nematode infection before parasite-specific IgE responses develop and TGF-beta1 induces constitutive release of mMCP-1 by homologues of MMC in vitro. Intraepithelial MMC may also express the chemokine CCL2 (monocyte chemotactic protein-1) during nematode infection but the expression of this chemokine by MMC homologues has not been investigated. OBJECTIVE: To investigate the expression and to compare the mechanisms of constitutive release of the chymase, mMCP-1, and the chemokine, CCL2. METHODS: MMC homologues were generated by culturing bone marrow cells in the presence of TGF-beta1, IL-3, IL-9 and stem cell factor (SCF). The intracellular distribution of mMCP-1 and CCL2 was examined by confocal microscopy. The involvement of the Golgi complex and of protein synthesis in the constitutive release of mMCP-1 and CCL2 was investigated using the Golgi-disrupting agent brefeldin A and cycloheximide to block protein synthesis. Secreted analytes were quantified by ELISA. RESULTS: mMCP-1 colocalized with Golgi matrix protein 130 but was most abundant in the granules, whereas CCL2 was not found in the granules but appeared to be located uniquely in the Golgi complex. Extracellular release of mMCP-1 was significantly inhibited ( approximately 40%) by cycloheximide and by the Golgi-disrupting agent brefeldin A, indicating both continuous protein synthesis and transportation via the Golgi complex are required for optimal mMCP-1 secretion. A similar but more marked inhibitory effect with both compounds was demonstrated on the constitutive secretion of CCL2. CONCLUSION: The culture conditions that promote mMCP-1 expression and release by MMC homologues also promote the expression and release of CCL2. Constitutive release involves de novo protein synthesis and requires a functional Golgi complex, suggesting that similar mechanisms of extracellular secretion operate for both mediators.     

New concepts in the diagnosis and management of optic nerve sheath meningioma.

Optic nerve sheath meningiomas are by far the most common tumors of the optic nerve sheath. The diagnosis can be suspected in most cases from clinical findings and supported by the results of neuroimaging, obviating tissue biopsy in the majority of cases. Observation may be appropriate in patients with mild or no visual deficit or in whom visual loss is not progressing, whereas stereotactic fractionated radiation therapy has been demonstrated to improve or stabilize vision in progressive or advanced cases. Attempts at surgical excision, and even biopsy, of optic nerve sheath meningiomas are associated with a high risk of blindness and should be reserved for the rare case of an anteriorly located, primarily exophytic tumor with focal involvement of the dural sheath.     

Detection of Mycoplasma and its antibodies in the blood of HIV-positive patients and in healthy persons]

The comparative study of HIV-positive and clinically healthy persons has indicated that the antigens of M. pneumoniae, M. fermentans and U. urealyticum are encountered nearly twice more frequently in the blood of HIV-infected patients than in that of healthy individuals. Mycoplasma antibodies are detected in HIV-positive persons 12 times more frequently than in healthy ones. Among the HIV-infected persons there are those who have simultaneously antigens of some Mycoplasma species.     

The hidden mortality in surgically treated necrotizing enterocolitis: fungal sepsis

From 1979 to 1986, 82 infants underwent surgical treatment for necrotizing enterocolitis (NEC), with 36 deaths. The records of 30 of the 36 infants who died were available for review. Fungal colonization and sepsis, the sites of infection, and timing of diagnosis and therapy were determined. Sixteen of 30 (53%) neonates had no evidence of fungus. Six (20%) were colonized with Candida species. Eight (27%) had fungal sepsis, with two of these eight found only at necropsy. Positive fungal blood cultures were a late finding. In only four of the six patients with positive blood cultures were the results known in time to initiate treatment with amphotericin B. Two of these four babies received less than 2 days of amphotericin B treatment prior to death. Fungal sepsis is a significant lethal factor in the surgical mortality of NEC. Vigorous efforts at earlier diagnosis are mandatory.