Goldenhar’s Syndrome associated with congenital cyanotic heart disease

A case of Goldenhar’s Syndrome in a 10 year old girl is reported. The unusual features are the absence of epibulbar dermoid which is one of the major hallmarks of the Syndrome and the presence of an associated Cyanotic Heart disease.     

Geriatric diabetic nephropathy: an analysis of renal referral in patients age 60 or older

We report a series of 33 consecutive hospitalized geriatric diabetic patients who were referred for evaluation of diabetic nephropathy, defined as proteinuria greater than or equal to 1 g/d (1,000 mg/24 h) or a serum creatinine concentration greater than or equal to 177 mumol/d (greater than or equal to 2 mg/dL). The study population was 60 years old or older (mean age, 68 +/- 6 years), was comprised mainly of women (24 of 33, 72.7%), and was predominantly black (25 of 33, 75.8%). All patients had type II diabetes. A family history of diabetes in parent or sibling was elicited in 24 (72.7%) patients. There were eight patients undergoing maintenance hemodialysis and 25 with less severe nephropathy (mean proteinuria, 2.7 g/d [2,700 mg/24 h]; mean creatinine clearance, 0.57 mL-s [34 mL/min]). Cardiac disorders were noted in the majority of patients: congestive failure in 20 (60.6%), myocardial infarction in eight (24.2%), and active angina in five (15.2%). Other comorbid diseases were present in both hemodialysis patients and the subset of nondialyzed azotemic-proteinuric patients, and consisted of peripheral neuropathy in 31 (93.9%), gastroparesis in 16 (48.5%), retinopathy in 28 (84.8%), and legal blindness in 11 (33%). We conclude that geriatric diabetic nephropathy in type II diabetes is similar in presentation and severity of comorbid extrarenal complications to the syndrome described in younger adults. This inference must be tempered by both the small size and the limitation imposed by the demographics of the study population, which is predominantly composed of black patients receiving treatment at inner city hospitals.     

Brucellosis of the spine

Eight cases of spinal brucellosis are included in this study. Diagnosis was established by positive serology. Back pain was the most common complaint. Functional disturbance in walking was observed in three cases; in two others this was because of impairment of cord function. Clinical hepatosplenomegaly was found in one case. Subclinical organomegaly was diagnosed in two other patients. Psoas abscess was identified by computed tomographic scan in two separate cases. Response to drug therapy and surgical decompression, when indicated, resulted in complete recovery in all patients.     

Cytochrome P450 reductase, antioxidant enzymes and cellular resistance to doxorubicin

Our data suggest that DOX resistance in P388/R-84 cells may result, at least in part, from reduced free radical formation by both suppression of flavin reductase(s) and overexpression of certain antioxidant enzymes such as GSH peroxidase and catalase. In addition, our results, in conjunction with other studies, indicate that flavin reductase(s) and antioxidant enzymes are differentially altered in cancer cells with acquired or de novo resistance to DOX. Further studies are needed, however, to elucidate the mechanism(s) by which the gene expression of these enzymes is regulated in drug-sensitive and -resistant cells.     

Increased production of human immunodeficiency virus (HIV) in HIV-induced syncytia formation: An efficient infection process

Syncytia or multinucleated giant-cell formation is one of the major cytopathic effects induced by human immunodeficiency virus (HIV) infection. Cell fusion results from the strong interaction of CD4 molecules on the surface of the uninfected T cells and gp120, an external envelope glycoprotein of HIV on the infected T cells. We studied the production of HIV in fusion cells between MOLT-4 and virus-infected MOLT-4/HIV cells and found that HIV production was enhanced up to three- to fivefold, which showed a good correlation with the appearance and extent of syncytia formation. Blocking the fusion by monoclonal antibody against a binding epitope of CD4 molecule to gp120 decreased the HIV production significantly. Enhancement of HIV production was observed by more than five-fold in comparison with chronically infected cells, which were fusion free 20 hr postcocultivation. Electron microscopic observation also showed the presence of abundant HIV particles inside the fused cells and on the outer surface. AZT blocked the HIV augmentation of fused cells in coculture completely. Southern blot analysis revealed that both integrated and unintegrated HIV DNA were highly accumulated in fusion cells, as compared with fusion-free MOLT-4/HIV cells. Among unintegrated DNA, circular and linear DNA were accumulated to a similar degree. Northern blot hybridization showed that rapid enhancement of all three species of HIV-specific RNA containing genomic (9.2 kb) and subgenomic (4.3 and 1.9 kb) RNAs were found 20 hr postinfection in fusion cells. These data suggest that syncytia formation is an extremely active infection process of HIV, by which multiple rounds of reinfection might take place.     

The Cd40 ligand

For several years, the primary function of CD40 ligand (CD40L) has been believed to be in regulation of contact-dependent, CD40-CD40L-mediated signals between B-and T-cells, which are essential for the regulation of thymus-dependent (TD) humoral immune responses. Recently, a flurry of reports indicate that CD40 is expressed by variety of cell types other than B-cells that include dendritic cells, follicular dendritic cells, monocytes, macrophages, fibroblasts, and endothelial cells. These studies show that CD40-CD40L interactions are important in inflammatory process. For the past few years, through the availability of CD40L-knockout mice, new data have emerged to support the belief that CD40L has many more functions than its role in TD humoral immunity. CD40L-deficient mice have provided significant information towards our understanding of the in vivo role of CD40L. The current picture that emerges indicates that CD40-CD40L interactions mediate many cell-mediated immune responses and T-cell-mediated effector functions that are required for proper functioning of the host defense system. This article focuses on the in vivo role of the CD40L in regulation of cell-mediated effector functions.     

Extramedullary myeloid cell tumours localised to the mediastinum: a rare clinicopathological entity with unique karyotypic features

Extramedullary myeloid cell tumour (EMMT) localised to the mediastinum is a rare manifestation of acute myeloid leukaemia, forming less than 4% of all cases of EMMT. In contrast to other types of EMMT, cytogenetic characteristics of this rare entity are relatively unknown. This report describes a patient with EMMT who had evidence of superior vena cava syndrome and normal peripheral blood counts at diagnosis. The results from an initial biopsy specimen were consistent with a diagnosis of mediastinal large B cell lymphoma. A diagnosis of acute myeloid leukaemia was made three months after initial diagnosis by bone marrow examination. Review of the initial biopsy specimen showed strong positivity for myeloperoxidase, revealing that the patient had been initially misdiagnosed as having large B cell lymphoma. Cytogenetic studies revealed a near triploid and near tetraploid karyotype with structural abnormalities in 12 and three metaphases, respectively. Review of the literature showed that a near tetraploid or triploid karyotype is found in most of the reported cases of mediastinal EMMT. Thus, the presence of a near triploid/tetraploid karyotype and mediastinal EMMT may represent a specific subset of EMMT. The biological relevance of this observation is discussed.     

Using a photon phase-space source for convolution/superposition dose calculations in radiation therapy

For a given linac design, the dosimetric characteristics of a photon beam are determined uniquely by the energy and radial distributions of the electron beam striking the x-ray target. However, in the usual commissioning of a beam from measured data, a large number of variables can be independently tuned, making it difficult to derive a unique and self-consistent beam model. For example, the measured dosimetric penumbra in water may be attributed in various proportions to the lateral secondary electron range, the focal spot size and the transmission through the tips of a non-divergent collimator; the head-scatter component in the tails of the transverse profiles may not be easy to resolve from phantom scatter and head leakage; and the head-scatter tails corresponding to a certain extra-focal source model may not agree self-consistently with in-air output factors measured on the central axis. To reduce the number of adjustable variables in beam modelling, we replace the focal and extra-focal sources with a single phase-space plane scored just above the highest adjustable collimator in a EGS/BEAM simulation of the linac. The phase-space plane is then used as photon source in a stochastic convolution/superposition dose engine. A photon sampled from the uncollimated phase-space plane is first propagated through an arbitrary collimator arrangement and then interacted in the simulation phantom. Energy deposition kernel rays are then randomly issued from the interaction points and dose is deposited along these rays. The electrons in the phase-space file are used to account for electron contamination. 6 MV and 18 MV photon beams from an Elekta SL linac are used as representative examples. Except for small corrections for monitor backscatter and collimator forward scatter for large field sizes (<0.5% with <20 x 20 cm2 field size), we found that the use of a single phase-space photon source provides accurate and self-consistent results for both relative and absolute dose calculations.     

Transcranial Doppler sonography in craniosynostosis

In the management of craniosynostosis, there is a need for quantitative assessment of treatment methods and outcome. Radiology and pressure studies are well documented, but so far little attention has been given to cerebral blood flow changes and their possible relevance. This paper reports our initial experience using transcranial Doppler sonography to calculate the cerebrovascular resistance and cerebral blood velocities in the major basal vessels before and after surgery for craniosynostosis. Ten patients were studied using the Scimed 2-MHz probe through the temporal and frontal windows of the skull. Measurements were taken under standard physiological conditions before, during and after surgery. Preliminary results suggest that this non-invasive technique may be helpful in predicting and assessing the outcome following surgery for craniosynostosis.