Sneddon's syndrome: clinical and laboratory analysis of 10 cases

Sneddon's syndrome is characterized by livedo reticularis and cerebrovascular lesions. We report the cases of women (mean age, 36.2 +/- 8.1 years) diagnosed with Sneddon's syndrome based on the presence of livedo reticularis and characteristic cerebrovascular findings. Seven of these patients had cerebral infarcts on cranial computed tomography scan. Antiphospholipid antibodies were positive in 6 of these cases. Three cases had abnormal levels of antithrombin III. Analyses of chromosome 6 revealed no abnormalities. In 3 of the cases, investigation of the pedigrees revealed autosomal dominant traits. Two cases had epilepsy, and 3 had migraine. One case with migraine also had myasthenia gravis. In addition, we detected inferior altudinal hemianopia in 2 cases, cognitive functional disorder in 3 and depression in 2. Based on these findings, the entire vascular, haematologic, neurologic, and dermatologic systems should be evaluated in patients diagnosed with Sneddon's syndrome.     

Preeclampsia: Is it because of the asymptomatic,unrecognized renal scars caused by urinary tract infections in childhood that become symptomatic with pregnancy?

Preeclampsia is an important disease of pregnancy whose exact etiology is still unknown despite continuing developments in medicine. Although most commonly it is believed to be caused by a defective placentation, in this paper, we hypothesize that the primary underlying problem in the development of preeclampsia can be in kidneys in a greater proportion of cases than it is believed today. The increased intravascular volume and the increased work load of kidneys together with the resulting glomerular hypertrophy may precipitate nephrotic syndrome, which in this case is called “preeclampsia” in a previously affected kidney. Urinary tract infections in childhood leaving silent, unrecognized small scars in the kidneys may be the underlying renal cause which disrupts its silence with an increased work load of kidneys prominently occurring after the midtrimester. The histopathologic finding in kidneys with renal scars after childhood urinary tract infections and in preeclampsia is focal segmental glomerulosclerosis in the majority of cases and this similarity strengthens our hypothesis.     

Recurrent Left Ventricular Apical Ballooning Syndrome in a Patient with Pheochromocytoma

Transient left ventricular apical ballooning syndrome is characterized by reversible left ventricular wall motion abnormalities, chest pain or dyspnea, ST-segment elevation, and mild elevation of cardiac enzyme levels in the absence of obstructive coronary artery disease. The pathophysiology of the syndrome is still unknown. The probable mechanism is supposed to be a catecholamine discharge. We report the case of a 66-year-old woman with recently diagnosed pheochromocytoma who presented with chest pain and ST-segment elevation. Coronary angiography revealed normal coronaries and apical dyskinesia at ventriculography. A similar episode of chest pain occurred 4 years ago with same angiographic findings and reversible inferobasal akinesia. In-hospital course was uneventful and the patient was discharged from the hospital 4 days later with treatment of aspirin 1 × 100 mg, metoprolol 1 × 50 mg, lisinopril 1 × 10 mg, and atorvastatin 1 × 20 mg. At 2 years follow-up after the event, the patient remained asymptomatic.     

May maternal anti-mullerian hormone levels predict adverse maternal and perinatal outcomes in preeclampsia?

Background: Prediction of preeclampsia and adverse maternal and perinatal outcomes with biomarkers has been proposed previously. Anti-mullerian hormone (AMH) is a growth factor, which is primarily responsible of the regression of the mullerian duct, but also used to predict ovarian reserve and decreases with age similar to the fertility.

Aim: To evaluate the predictive role of maternal anti-mullerian hormone (mAMH) in adverse maternal and perinatal outcomes in preeclampsia.

Methods: This prospective case-control study was conducted at current high-risk pregnancy department in a tertiary research hospital and 45 cases with preeclampsia classified as study group and 42 as control group. Data collected and evaluated were; age, body mass index (BMI), marriage duration (MD), gestational weeks (GW), gravidity, parity, mode of delivery, birth weight, newborn Apgar score, newborn gender, maternal complication, perinatal outcome, some laboratory parameters and mAMH. The association between mAMH levels and maternal and fetal outcomes were evaluated.

Results: There were no statistically significant differences between groups in terms of age, BMI, MD, gravidity, parity and newborn gender (p?>?0.05). GW, vaginal delivery, birth weight, newborn Apgar score, were statistically significantly lower in preeclamptic patients when compared with non-preeclamptic patients (p?<?0.001). Adverse maternal and perinatal outcomes were statistically significantly higher in the study group (p?<?0.001). The laboratory values [alanine transaminase (ALT), aspartate transaminase (AST), blood urea nitrogen (BUN), creatinine, lactic dehydrogenase (LDH), uric acid and fibrinogen) were statistically significantly lower in the control group (p?<?0.001). The mAMH level was significantly lower in the preeclamptic group (p: 0.035). There was no correlation between mAMH levels and demographic and clinical parameters. The area under the ROC curve (AUC) was 0.590 and the cut-off value was 0.365?ng/ml with sensitivity of 67.4% and specificity of 47.1% for mAMH. Logistic regression analysis showed a statistically insignificance between mAMH and maternal complication and perinatal outcome (p: 0.149).

Conclusion: According to this study, mAMH level was lower in preeclamptic patients than in normal pregnants, and is found to be a discriminative factor with low sensitivity and specificity. There was no relationship between mAMH and adverse maternal and perinatal outcomes. Further randomized controlled studies with more participants are needed to evaluate the accurate effects of mAMH levels on preeclampsia and should increase the power of mAMH levels in predicting the preeclampsia.     

Short term fluvastatin treatment lowers serum asymmetric dimethylarginine levels in patients with metabolic syndrome

Elevated concentrations of asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide synthase, are associated with endothelial dysfunction. Metabolic syndrome (MetS) is also a condition associated with impaired endothelial function. To test the hypothesis that lipid lowering treatment with a statin lowers ADMA levels, we investigated the effect of fluvastatin treatment on serum ADMA levels in patients with MetS. A total of 85 hypercholesterolemic MetS patients (53 females, 32 males; mean age, 55.8+/-9.1 years) were included in this prospective, randomized, controlled study. Patients were randomly assigned to either the treatment (n=42) or control group (n=43). Recommendations for lifestyle modification were provided to both groups. In addition, the patients in the treatment group received fluvastatin, extended release tablets, 80 mg/day, orally for 6 weeks. Serum levels of ADMA and lipids were assessed at baseline and at the completion of treatment. High performance liquid chromatography was used to measure serum ADMA concentrations. In the fluvastatin group, there was a significant reduction in serum ADMA levels compared to baseline (from 1.57+/-1.07 micromol/L to 1.17+/-1.41 micromol/L, P<0.05), whereas in the control group no significant change was observed (from 1.06+/-0.46 micromol/L to 1.24+/-1.38 micromol/L, P>0.05). There was a statistically significant difference between the groups in terms of mean percent change from baseline (P=0.047). Fluvastatin treatment for hypercholesterolemia in patients with MetS is associated with a decrease in serum ADMA levels at 6 weeks. This finding is consistent with known beneficial effects of statin treatment on endothelial function in hypercholesterolemic patients.     

Mild carbon monoxide poisoning impairs left ventricular diastolic function

Rationale:

Carbon monoxide (CO) poisoning is associated with direct cardiovascular toxicity. In mild CO poisoning in which cardiovascular life support is not required, the effects of CO on left and right ventricular functions are unknown in patients without cardiac failure.

Objectives:

Echocardiography was used to determine whether or not mild CO poisoning impairs ventricular function. Twenty otherwise healthy patients with CO poisoning and 20 age- and gender-matched controls were studied. Echocardiographic examinations were performed at the time of admission and 1 week after poisoning.

Results:

The impairment observed in the left and right ventricular diastolic function at the time of admission was greater than the impairment 1 week after poisoning. Mild CO poisoning did not have a significant effect on systolic function. Carboxyhemoglobin levels were positively correlated with left ventricular diastolic dysfunction, whereas the levels were not correlated with right ventricular diastolic function.

Conclusions:

In CO intoxication, the development of left and right ventricular diastolic dysfunction precedes systolic abnormality. Patients with mild CO poisoning do not manifest cardiovascular symptoms; however, it should be borne in mind that most of these patients have myocardial involvement.     

Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes

Journal of Clinical Immunology - Severe combined immunodeficiency is an inborn error of immunity characterized by impairments in the numbers and functions of T and B lymphocytes due to various...     

Melatonin reduces dimethylnitrosamine-induced liver fibrosis in rats

Increased deposition of the extracellular matrix components, particularly collagen, is a central phenomenon in liver fibrosis. Stellate cells, the central mediators in the pathogenesis of fibrosis are activated by free radicals, and synthesize collagen. Melatonin is a potent physiological scavenger of hydroxyl radicals. Melatonin has also been shown to be involved in the inhibitory regulation of collagen content in tissues. At present, no effective treatment of liver fibrosis is available for clinical use. We aimed to test the effects of melatonin on dimethylnitrosamine (DMN)-induced liver damage in rats. Wistar albino rats were injected with DMN intraperitoneally. Following a single dose of 40 mg/kg DMN, either saline (DMN) or 100 mg/kg daily melatonin was administered for 14 days. In other rats, physiologic saline or melatonin were injected for 14 days, following a single injection of saline as control. Hepatic fibrotic changes were evaluated biochemically by measuring tissue hydroxyproline levels and histopathogical examination. Malondialdehyde (MDA), an end product of lipid peroxidation, and glutathione (GSH) and superoxide dismutase (SOD) levels were evaluated in blood and tissue homogenates. DMN caused hepatic fibrotic changes, whereas melatonin suppressed these changes in five of 14 rats (P < 0.05). DMN administration resulted in increased hydroxyproline and MDA levels, and decreased GSH and SOD levels, whereas melatonin reversed these effects. When melatonin was administered alone, no significant changes in biochemical parameters were noted. In conclusion, the present study suggests that melatonin functions as a potent fibrosuppressant and antioxidant, and may be a therapeutic choice.