A case report of Erdheim-Chester disease-clinically characterized by recurrent fever, multiple bone destruction, and antinuclear antibodies.

Background: Erdheim-Chester disease is a form of histiocytosis. It is an extremely rare illness. Since its discovery, hundreds of cases of this disease have been identified across the globe. Pathologically, the condition is characterized by proliferation of lipid-rich foam-like tissue cells, which is especially prevalent in bones. Approximately 50% of patients develop infiltration into organs other than the bones. Case description: A patient with fever and bone pain is described in this case report. After visiting multiple hospitals and departments, undergoning battery of investigations, and ruling out other diseases, the patient was pathologically diagnosed with Erdheim-Chester disease after a biopsy of the associated bone destruction. The condition improved with symptomatic therapy. Conclusion: Numerous clinical symptoms make non-Langerhans cell histiocytosis challenging to diagnose and requires pathological diagnosis. Patients with unexplained multiple bone destruction must be alert against this disease from a clinical standpoint.

Systemic lupus erythematosus complicated with reversible posterior encephalopathy syndrome: a case report.

A 28-year-old female patient was hospitalized primarily because of "intermittent fever for 28 days aggravated by systemic rashes, oral ulcer, and edema in both eyelids for 5 days." During treatment, convulsions and loss of consciousness occurred. Magnetic resonance imaging (MRI) of the head revealed an abnormal signal with shadows in the bilateral frontal, parietal, temporal, and occipital lobes; cerebellar hemispheres; and basal nodes, with high signal intensity on T2 weighted imaging (T2WI), on fluid-attenuated inversion-recovery, and of the apparent diffusion coefficient and low signal intensity on T1WI and diffusion weighted imaging. Therefore, the patient was diagnosed with systemic lupus erythematosus (SLE) with reversible posterior encephalopathy syndrome (RPES). Intravenous high-dose methylprednisolone and cyclophosphamide were administered for blood pressure control, which effectively controlled the disease. Therefore, when patients with SLE and hypertension or renal insufficiency or those receiving high-dose methylprednisolone or immunosuppressants suddenly present with neurologic abnormalities, a diagnosis of RPES must be considered, and head MRI is the first choice for diagnosis of this disease. In terms of treatment, the blood pressure should be quickly controlled, and the primary disease should be aggressively treated.

Role of LAMA4 Gene in Regulating Extravillous Trophoblasts in Pathogenesis of Preeclampsia.

BACKGROUND Preeclampsia is a severe obstetric complication affecting the health of pregnant women. The aim of this study was to determine the effect of LAMA4 gene on extravillous trophoblasts (EVTs) in the pathogenesis of preeclampsia and its possible regulatory mechanism. MATERIAL AND METHODS HTR-8/SVneo cells were transfected with small-interfering ribonucleic acid (siRNA) targeting LAMA. The LAMA4 protein level was detected via Western blotting. Moreover, the influences of LAMA4 gene on the proliferation, migration and invasion of HTR-8/SVneo cells were detected via cell counting kit-8 (CCK-8) assay and Transwell assay. We also assessed the influences of LAMA4 gene on vascular endothelial growth factor (VEGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) messenger RNA (mRNA) levels in HTR-8/SVneo cells as measured by reverse transcription-polymerase chain reaction (RT-PCR). RESULTS The cell lines with downregulation of LAMA4 gene were successfully established by transfection. Compared with those in the normal group, the proliferation, migration, and invasion of HTR-8/SVneo cells declined, the VEGF mRNA level was reduced, and the sFlt-1 mRNA level was increased in the silencing group. CONCLUSIONS Downregulation of the LAMA4 gene inhibits the proliferation, migration, and invasion of EVT to suppress the expression of vascular factors, leading to the occurrence or development of preeclampsia. Our data provide new insights into modulation of LAMA4 expression as a potential target for therapy against preeclampsia. Further research is needed on placenta sampling from pre-eclamptic pregnancies to validate the effect of LAMA4 expression compared to control pregnancies.

Use of SPECT to detect changes in diastolic and coronary reserve in patients with obstructive sleep apnea.

PURPOSE: To assess diastolic function and coronary artery reserve in patients with obstructive sleep apnea (OSA) using single-photon emission computer tomography (SPECT). METHODS: Patients with OSA who had normal echocardiograph/electrocardiogram findings were divided into three groups based on OSA severity: mild (n = 15), moderate (n = 13), or severe (n = 18). A control group of participants without OSA (n = 17) was included. SPECT (with technetium-99 m-labeled red blood cells) was performed after the induction of cardiac stress by injection of dobutamine. The following ventricular parameters were determined: left ventricular ejection fraction, peak filling rate (PFR), peak ejection rate, 1/3 filling fraction (1/3FF), and regional ejection fractions (rEF). RESULTS: The median ages of OSA and control participants were 45.0 and 51.0 years, respectively. Median apnea-hypopnea index scores were 3.3, 9.1, 38.5, and 65.2 for the control, mild OSA, moderate OSA, and severe OSA groups, respectively. Post-stress, 1/3FF was significantly lower in the overall OSA group compared with the control group (P < 0.05). PFR was significantly lower in the overall OSA group compared with the control group (P < 0.05) and was significantly lower in the severe OSA group compared with the mild OSA group. Regional ejection fractions rEF3 (cardiac apex and a small part of the inferior wall) and rEF4 (anteroseptal wall) were significantly lower in the overall OSA group compared with the control group, suggesting decreased coronary artery reserve. CONCLUSION: Our findings suggest that SPECT can be used to detect abnormalities in diastolic function and coronary reserve in patients with OSA who have normal electrocardiogram or echocardiograph findings. SPECT may be useful for the early detection of cardiovascular disease in patients with OSA.

[A study on the endogenous cannabinoid system synthetic and catabolic enzyme levels in patients with obstructive sleep apnea].

OBJECTIVE: To observe the differences of endogenous cannabinoid system (ECS) synthetic and catabolic enzyme levels between the obstructive sleep apnea syndrome (OSA) patients and the control subjects. METHODS: Patients with OSA confirmed by PSG in our Sleep Center were randomly recruited from July to December, 2009. Peripheral blood was obtained to isolate mononuclear cells and the mRNA levels of anandamide (AEA) synthase N-acylphosphatidylethanolamine hydrolyzing phospholipase D (NAPE), fatty acid amide hydrolase (FAAH) and 2-arachidonoylglycerol (2-AG) synthase diacylglycerol lipase (DAGL) and hydrolase monoacylglycerol lipase (MAGL) were measured by real-time polymerase chain reaction. The association between the severity of OSA and the enzyme levels were explored. RESULTS: There was a significant difference in both the NAPE and MAGL levels between patients with OSA and the control subjects. The level of MAGL was related to some indices of severity of OSA, including the longest apnea time, lowest blood oxygen saturation and the micro-arousal index (r = 0.31, 0.24, 0.34, respectively, all P < 0.05). Compared with patients with OSA alone, patients with OSA complicated by hypertension showed a different level of FAAH (P < 0.05). CONCLUSION: OSA altered the expression of the ECS synthetic and catabolic enzymes, leading to an increase in endogenous cannabinoid substances.