Discordant repeat size and phenotype in Kennedy syndrome

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.     

Imaging spectrum in disseminated histoplasmosis: Case report and brief review

The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal.     

Effects of Stamm gastrostomy on gastric emptying rate in rats

AIM: Although frequency of gastroesophageal reflux (GER) increases after gastrostomy, the role of gastric emptying in GER has not been evaluated. In this study, we examined the effects of Stamm gastrostomy on gastric emptying rate in rats and whether Stamm gastrostomy induces GER or not. METHODS: Sprague-Dawley rats were divided into three groups. Stamm gastrostomy was done in the first group (SG). Sham operation was carried out in group 2 and the 3rd group served as control. Gastric emptying was assessed using both liquid and solid meals in each group at postoperative 14th day. For solid meal emptying, after fasting of 16 h, the rats were fed for 3 h and gastric emptying rate was measured at the fifth hour. Methylcellulose was used for emptying of liquids and it was given after the animals were fasted for 16 h and gastric emptying rate was measured 30 min later. Histological evaluation for GER was performed in all groups. RESULTS: GER was observed pathophysiologically in 5 of the 7 rats in SG group. Gastric emptying rates of liquid and solid meals were found to be similar in control, SG or sham groups. CONCLUSION: Surgical gastrostomy does not affect the gastric emptying of solid and liquid meals in rats. Other mechanisms should be considered in the development of GER observed following gastrostomy.     

A rare primary pulmonary tumor of childhood

Pleuropulmonary blastoma (PPB) is known to be the pulmonary blastoma of childhood. It has a range of macroscopic and microscopic features which appear to correlate with eventual prognosis. Type 1, presenting as a multicystic lesion, occurs at an earlier age and has a more favorable prognosis than other types. The presented case of type 1 PPB had a microscopic focus of rhabdomyosarcoma. Although this patient was disease-free one year after the initial diagnosis without chemotherapy, he presented at 14 months with local dissemination and cardiac metastasis, revealing the inevitable chemo-radiotherapy need in PPB.     

Rosuvastatin regulates vascular smooth muscle cell phenotypic modulation in vascular remodeling: role for the urokinase receptor

The urokinase (uPA)/urokinase receptor (uPAR) multifunctional system is an important mediator of migration and proliferation of vascular smooth muscle cells (VSMC). However, whether uPA/uPAR-directed mechanisms are involved in the beneficial effects of 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors on vascular remodeling remains unexplored. In this study, we have investigated the effect of the hydrophilic statin rosuvastatin on neointimal remodeling, and the role of uPAR. Using an ex vivo organ and in vitro cell culture models we demonstrate that rosuvastatin decreases injury-induced neointima formation and proliferation of medial VSMC in porcine coronary arteries, as well as migration and proliferation of human coronary VSMC. Studies on the underlying mechanisms show that rosuvastatin impairs VSMC transition from their physiological contractile to the pathophysiological synthetic phenotype. These effects are mediated, at least in part, via uPAR, as confirmed by means of rosuvastatin-directed uPAR expression and uPAR silencing in both models. Our findings provide evidence that rosuvastatin modulates VSMC phenotypic changes and subsequently their proliferation and migration, and indicate the important role for uPAR in these processes. This mechanism contributes to the beneficial non-lipid lowering effect of rosuvastatin on negative vascular remodeling.     

A rare diagnosis in emergency department: spontaneous spinal epidural hematoma

We report a case of a 32-year-old man who presented to the emergency department (ED) with a sudden onset of paraplegia due to spontaneous spinal epidural hematoma. Although the patient had a poor neurological condition on presentation, he was successfully operated and discharged without any neurological sequel. Spontaneous spinal epidural hematoma is a rarely seen clinical entity, especially in the ED. Magnetic resonance imaging is the best choice for early diagnosis, and urgent surgical decompression is essential to prevent serious neurological deficits.     

Pulmonary alveolar lithiasis in two siblings.

Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology and is characterized by the deposition of calcium phosphate microliths within the alveolar airspaces. We report 2 asymptomatic siblings, a 7-year-old girl and her 13-year-old brother, with PAM. In the girl, chest X-ray and computed tomography revealed diffuse interstitial changes but no uptake of technetium 99m (99mTc) on bone scan was noted in the lung. Microliths stained pink with Papanicolaou dye in bronchoalveolar lavage fluid (BALF) but did not stain with von Kossa. In the brother, characteristic radiological findings and 99mTc uptake in the lung were detected. The microliths stained pink with Papanicolaou in BALF and black with von Kossa as well. We hypothesize that the first case is in the early phase of PAM because of lack of 99mTc uptake.     

Purification of Hageman factor (factor XII) on columns of popcorn- agarose

Purification of Hageman factor (HF, factor XII) from human plasma is a tedious procedure and the product is not always in the precursor form. Hojima has described a protein derived from corn kernels that inhibits the enzymatic properties of HF. This inhibitor binds to the precursor form of HF. Rapid purification of HF was achieved by using as the major purification step adsorption of this clotting factor to popcorn inhibitor bound to agarose. The product had a specific activity of 50.0 to 67.1 coagulant units of HF per milligram protein, and the yield was 33% to 40% of the HF content of the starting plasma. The purified protein displayed a single band upon unreduced or reduced sodium dodecyl sulfate polyacrylamide gel electrophoresis and less than 0.1% was in an activated form, as measured in coagulant assays. The technique described is more rapid and reliable than methods described earlier.