Craniosynostosis,ectopia lentis,and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance

The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. © 2001 Wiley‐Liss, Inc.     

Pleural effusion following coronary perforation during balloon angioplasty: an unusual presentation of the postpericardiotomy syndrome.

We report on the development of features of the postpericardiotomy syndrome following coronary perforation during balloon angioplasty, in a patient that was managed conservatively. The case illustrates that while cardiac tamponade does not invariably follow coronary perforation, late consequences derived from this complication may occur. It also widens the spectrum of conditions where the postpericardiotomy syndrome has been observed.     

Paraneoplastic movement disorder in a patient with non-Hodgkin's lymphoma and CRMP-5 autoantibody.

The paraneoplastic autoantibody, collapsin response-mediator protein (CRMP)-5 immunoglobulin G (IgG), is specific for neuronal cytoplasmic CRMP-5, and is usually associated with small-cell lung carcinoma or thymoma. We report on details of a movement disorder that followed anti-B-cell therapy in a patient with lymphoma, and was accompanied by CRMP-5 IgG.     

Esthesioneuroblastoma in a young child. Case report

Esthesioneuroblastoma is an uncommon malignant neoplasm that arises from olfactory mucosa, often with intracranial extension.A case report of the youngest victim in the literature (2-year-old boy) is presented.     

Pathological changes in testes and liver of male albino rats after dermal exposure to DDVP insecticide.

Exposure of male albino rats to DDVP insecticide at sublethal dose of 30 mg/kg/day through dermal painting for a period of 90 days didn't show any intoxication symptoms or mortality. However, cytopathological changes in testicular and liver tissues were evident. There was a positive correlation between the degree of cellular damage and the period of insecticide administration. In general, damages were prominent in rats treated for 30 days or more. Histological examination of testes showed degenerative seminiferous tubules and fewer leydig cells. Hepatic cells were congested, atrophied and showed different stages of necrobiotic changes. This suggests a great care and caution for workers during different phases of DDVP insecticide handling.     

Antibody-mediated specific binding and cytotoxicity of liposome-entrapped doxorubicin to lung cancer cells in vitro.

Liposome entrapment of doxorubicin has been shown to reduce its cardiotoxicity in vivo and increase its therapeutic index. A further improvement in therapeutic index could be achieved through targeting of liposome-entrapped drug selectively to cancer cells. Monoclonal antibodies against the squamous lung cancer cell line KLN-205 have been ligated to the surface of long-circulating (Stealth) and conventional liposomes. The antibody-bearing liposomes showed specific, competitive uptake by KLN-205 cells as compared to liposomes bearing nonspecific isotype-matched antibodies or antibody-free liposomes. Doxorubicin-containing antibody-liposomes resulted in as much as a 15-fold decrease in the 50% inhibitory concentration for doxorubicin against KLN-205 cells as compared to free doxorubicin or doxorubicin entrapped in antibody-free liposomes.     

Bone scintigraphy in tuberculous sacroiliitis

Radionuclide bone imaging is becoming increasingly important in the evaluation of musculoskeletal pain of uncertain cause. A case in which Tc-99m MDP bone imaging was employed to investigate complaints of low back pain is presented. Scan abnormalities directed clinicians towards appropriate further workup and diagnosis of unilateral tuberculous sacroiliitis.     

Non-invasive magnetic resonance imaging assessment of myocardial changes and the effects of angiotensin-converting enzyme inhibition in diabetic rats

A non-invasive cine magnetic resonance imaging (MRI) technique was developed to allow, for the first time, detection and characterization of chronic changes in myocardial tissue volume and the effects upon these of treatment by the angiotensin-converting enzyme (ACE) inhibitor captopril in streptozotocin (STZ)-diabetic male Wistar rats. Animals that had been made diabetic at the ages of 7, 10 and 13 weeks and a captopril-treated group of animals made diabetic at the age of 7 weeks were scanned. The findings were compared with the results from age-matched controls. All animal groups (n = 4 animals in each) were consistently scanned at 16 weeks. Left and right ventricular myocardial volumes were reconstructed from complete data sets of left and right ventricular transverse sections which covered systole and most of diastole using twelve equally incremented time points through the cardiac cycle. The calculated volumes remained consistent through all twelve time points of the cardiac cycle in all five experimental groups and agreed with the corresponding post-mortem determinations. These gave consistent myocardial densities whose values could additionally be corroborated by previous reports, confirming the validity of the quantitative MRI results and analysis. The myocardial volumes were conserved in animals whose diabetes was induced at 13 weeks but were significantly increased relative to body weight in animals made diabetic at 7 and 10 weeks. Captopril treatment, which was started immediately after induction of diabetes, prevented the development of this relative hypertrophy in both the left and right ventricles. We have thus introduced and validated quantitative MRI methods in a demonstration, for the first time, of chronic myocardial changes in both the right and left ventricles of STZ-diabetic rats and their prevention by the ACE inhibitor captopril.