Fabry disease: an atypical presentation

Fabry disease is a rare X-linked recessive lysosomal storage disease. Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-year-old boy presented with a 6-year history of widespread petechial-like lesions and painful crises of the hands and feet. On physical examination, he had numerous erythematous, nonblanching pinpoint macules and rare papules with an overlying crust. These lesions were widely distributed on his trunk, palms, and soles, while sparing the area between the umbilicus and knees. Histologic evaluation of one of these lesions found several dilated, blood-filled vessels in the upper dermis beneath a thinned epidermis. The patient also had markedly decreased alpha galactosidase A levels. Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease.     

Update on zona pellucida glycoproteins based contraceptive vaccine

Zona pellucida (ZP) glycoproteins, due to their critical role in mammalian fertilization, have been proposed as candidate immunogens for development of a contraceptive vaccine. Active immunization studies in a variety of animal species, employing either native or recombinant zona proteins, has established their contraceptive potential. Hence, ZP glycoprotein-based contraceptive vaccines have a very good potential for controlling wild life population. To make it a realistic proposition, additional research inputs are required to develop new potent adjuvants and novel practical strategies for vaccine delivery. The observed ovarian dysfunction, often associated with immunization by ZP glycoproteins, is one of the major obstacles for their application in the control of human population. Ongoing studies to delineate epitopes of ZP glycoproteins that will generate an immune response capable of inhibiting fertility without any untoward effects on ovarian functions will help in determining their feasibility for human use.     

Utility of misoprostol for labor induction in severe pre-eclampsia and eclampsia

OBJECTIVES: To determine the effectiveness and safety of misoprostol in severe pre-eclampsia and eclampsia patients with unripe cervix. METHODS: A prospective observational study was carried out in 135 severe pre-eclampsia and eclampsia patients who required termination of pregnancy at the Department of Obstetrics and Gynecology, Khulna Medical College Hospital, Khulna, Bangladesh during January 2002 to October 2003. Fifty micrograms of misoprostol was used every 4 h in cases of unripe cervix (Bishop score < or = 6) in severe pre-eclampsia and eclampsia patients. Maternal and perinatal outcome as well as any complications were recorded. RESULTS: In severe pre-eclampsia and eclampsia patients vaginal delivery occurred in 79.3 and 80.5% of cases, and cesarean section was performed in 20.6 and 19.4% of cases, respectively. The maximum required responsive dose was 50-150 microg. Oxytocin augmentation was required in 29.3 and 35% of cases, respectively. Induction to delivery time was median 8 h, interquartile ranges 4.2-8.2 h in the severe pre-eclampsia group, and median 9 h, interquartile ranges 6.8-12.5 h in the eclampsia group, and average hospital stay was 3.4 +/- 1.8 and 3.7 +/- 1.7 days, respectively. The only maternal complications were hyperstimulation which occurred in 6.8 and 5.1% of cases, respectively. Neonatal death occurred in five (11.3%) and eight cases (12.1%), respectively. CONCLUSION: Intravaginal misoprostol is well tolerated and very effective for the induction of labor in severe pre-eclampsia and eclampsia patients with unripe cervix.     

Epistaxis and oral anticoagulant therapy

Epistaxis in the anticoagulated patient poses a complicated management problem, which requires interdisciplinary collaboration. The aetiology of the majority of cases of epistaxis remains idiopathic, but an ageing population and the prevalence of ischaemic heart disease and peripheral vascular disease has meant that there are increasing numbers of patients on long term oral anticoagulant therapy. This has led to a concomitant increase in the incidence of complications experienced. We have reviewed the available relevant literature and guidelines in the current management practice in this scenario. In light of this, we propose a more standardised algorithm for the management of epistaxis in this challenging group of patients.     

Molecular, cellular and functional imaging of atherothrombosis

Recent years have seen a dramatic expansion in our knowledge of the events of atherogenesis and in the availability of drugs that can retard the progression - and even induce the regression - of this disease process. Our understanding has been advanced considerably by developments in genetics and molecular biology and by the use of genetically modified mouse models that have provided key mechanistic insights. Increasingly sophisticated imaging techniques will capitalize on these advances by bringing forward diagnosis, enhancing disease characterization and providing more precise evaluation of the effects of treatment. In this review, techniques for imaging atherosclerosis and thrombosis will be discussed. Particular attention will be given to magnetic resonance imaging techniques that enable lesion characterization and allow the targeted imaging of cells, molecules and biological processes. Emphasis is given to the potential contribution of magnetic resonance imaging methods to therapeutic monitoring, drug delivery and drug discovery.     

Screening for personality disorder: a comparison of personality disorder assessment by patient and informants

The Structured Clinical Interview for DSM-IV Personality Disorders (SCID-II Version 2.0) is becoming the most favoured instrument to measure personality disorder but takes up to an hour to complete. The Standardized Assessment of Personality (SAP), an informant-based measure, takes 10 to 15 minutes to complete. Both instruments have been validated independently. This study aimed to determine whether the SAP is a suitable screening instrument for personality disorder as measured by the SCID-II. Fifty-seven psychiatric patients were assessed for personality disorder using both the SAP and the SCID-II. The SAP assessments were conducted blind to the results of the SCID-II assessments. Agreement between the two instruments in this population was low (kappa = 0.3). The level of agreement differed between personality disorder categories, ranging from kappa = 0.4 (antisocial) to 0.1 (narcissistic). In this population of patients, the SAP proved to be a poor screen for the SCID-II. The study highlights the discrepancy between informant and self-report assessments for personality disorder.     

Benign retroperitoneal schwannoma presenting as a giant adrenal tumor

We report a 51-year-old man with a primary adrenal tumor presenting as a giant juxta-adrenal benign schwannoma. The patient was initially admitted for persistent fevers and underwent a sepsis workup. Abdominal ultrasound initially revealed an incidental right suprarenal mass, which measured 10 x 10 x 11 cm, estimated by computed tomography. Following a successful laparotomy, histologic examination confirmed that this giant tumor was a benign retroperitoneal schwannoma. Postoperatively, the patient remains disease-free, undergoing rehabilitation.     

Scintigraphic patterns of lymphocele in post-renal transplant

Lymphocele is a common cause of fluid collection in post-renal transplant patients. Most of these patients are routinely followed up with 99mTc diethylenetriaminepentaacetate renal dynamic scintigraphy. The present study retrospectively reviews the range of findings with renal dynamic scintigraphy in documented lymphoceles. A lymphocele was diagnosed when there was a pelvic collection on ultrasonography with a similar biochemical composition to plasma. Four types of scintigraphy patterns were noted in lymphocele in a total of 13 patients. In nine patients there was an initial photopenic area, which progressively filled up with tracer activity equal to that of the background level in delayed images. In two other patients, the activity in the initial photopenic area exceeded the background activity in delayed images. A persistently photopenic area was seen in early and delayed images in the two remaining patients. In addition, a rim of increased tracer activity was noted surrounding the photopenic area in four patients in the early images. In conclusion, an initial photopenic area (with or without a surrounding rim of increased tracer activity), which fills up with tracer in delayed images seems to be the most common pattern seen in lymphoceles in scintigraphic studies of renal transplants. The presence of a rim sign may add confidence to the reporting of a collection as a lymphocele.     

Pharmacokinetics/pharmacodynamics (PK/PD) modeling of risks of kidney toxicity from exposure to cadmium: estimates of dietary risks in the U.S. population

An analysis of epidemiological studies of associations between exposure to cadmium and kidney toxicity was conducted. Dose-response functions relating low-molecular-weight (LMW) proteinuria to various indices of cadmium dose (dietary cadmium intake, urinary cadmium excretion, or tissue cadmium burden) were obtained from 15 studies of diverse exposures (occupational, general environmental, environmental contamination). Estimates of the dose corresponding to probabilities of LMW proteinuria of 0.1, 0.15, or 0.2 were transformed from the reported dose units into corresponding estimates of target organ dose (microgram Cd/g renal cortex, RC) by simulation using a pharmacokinetics (PK) model. The median RC associated with a 0.1 probability (RC10M) of LMW proteinuria was predicted to be 153 micrograms Cd/g cortex (95% confidence interval [CI]: 84-263). The lower confidence limit on the RC10M (RC10L, 84 micrograms/g cortex) was predicted to be attained with a constant chronic intake of 1 microgram/kg/d in females or 2.2 micrograms/kg/d in males. The RC10L was 2.5-5 times higher than the median RCs predicted to result from dietary cadmium intake in U.S. nonsmokers (microgram Cd/g cortex: 33, females; 17, males) and 1.6-3 times higher than the corresponding 95th percentile RCs (53, females; 27, males). Additional exposure from smoking cigarettes (approximately 20 cigarettes/d, 3 micrograms Cd inhaled/d) was predicted to increase the median RC (microgram/g cortex) by approximately 45-70% (48, females; 29, males); however, predicted 95th percentile RCs for smokers (66, females; 38, males) were lower than the RC10L. These results indicate that, for most of the U.S. population, dietary-derived risks are likely to be negligible, in the absence of exposures from other sources.