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.     

Transition from Film to Electronic Media in the First-Year Medical School Gross Anatomy Lab

For the benefit of the first-year gross anatomy students, we digitized and published on a Web site images that had been collected over a 30-year period. We provided a CD-ROM (compact disk, read-only media) containing the image set in higher quality format to students and faculty. We supplemented basic images with hot topics such as CT angiography, virtual colonography, computer-aided diagnosis, and 3D post-processing. Full motion video and moving JPEG (Joint Photo Expert Group) animations were integrated into the atlas. On the post course questionnaire medical students reported that the images on CD-ROM were helpful during the course and for review prior to examinations. Faculty and medical students used the CD-ROM for problem-based learning sections and facilitator training. The images were clear and easily projected during review sessions and were useful for the small group sessions, where they served as examples of normal anatomy.     

Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome

It is unclear whether hypothyroidism is present in patients with Prader–Willi syndrome (PWS). This study aimed to clarify the state of the hypothalamic–pituitary–thyroid axis and the effects of growth hormone (GH) treatment on thyroid function in pediatric patients with PWS. We retrospectively evaluated thyroid function in 51 patients with PWS before GH treatment using a thyroid‐releasing hormone (TRH) stimulation test (29 males and 22 females; median age, 22 months). We also evaluated the effect of GH therapy on thyroid function by comparing serum free triiodothyronine (fT3), free thyroxine (fT4), and thyroid stimulating hormone (TSH) levels at baseline, 1 year, and 2 years after GH therapy. TSH, fT4, and fT3 levels were 2.28 μU/ml (interquartile range [IQR]; 1.19–3.61), 1.18 ng/dl (IQR; 1.02–1.24), and 4.02 pg/dl (IQR; 3.54–4.40) at baseline, respectively. In 49 of 51 patients, the TSH response to TRH administration showed a physiologically normal pattern; in two patients (4.0%), the pattern suggested hypothalamic hypothyroidism (delayed and prolonged TSH peak after TRH administration). TSH, fT4, and fT3 levels did not change significantly during 1 or 2 years after GH treatment. The TSH response to TRH showed a normal pattern in most patients, and thyroid function did not change significantly during the 2 years after initiating GH treatment.     

Assessment of autonomic nervous system function in patients with Behçet' s disease by spectral analysis of heart rate variability

The purpose of this study was to evaluate the autonomic nervous system (ANS) function in patients with Behcet's disease by using power spectral analysis of heart rate variability (HRV). The study population consisted of 71 patients with Behcet's disease, and 26 normal volunteers. HRV was measured by power spectral analysis in supine and standing position. In supine position, Behcet's patients had increased low frequency component in absolute (LF) and normalized units (LF nU) but had lower values of high frequency component in absolute (HF) and normalized units (HF nU) than the controls (P < 0.05). In standing position, higher values were obtained in LF and LF nU but lower values of HF and HF nU in Behcet's patients than controls (P < 0.05). LF/HF was significantly higher in patients both in supine (2.5 +/- 1.0 vs. 1.2 +/- 0.8, P = 0.001) and standing (21.9 +/- 7 vs. 1.8 +/- 0.3, P < 0.001) positions. Our data suggest that patients with Behcet's disease may have asymptomatic ANS dysfunction, which is in the form of increased sympathetic and decreased parasympathetic modulation, and power spectral analysis of HRV is beneficial in assessing the ANS function.     

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.