Adolescent ; Child ; Electroencephalography ; Female ; Fructose ; analogs & derivatives ; therapeutic use ; Humans ; Male ; Migraine Disorders ; diagnostic imaging ; drug therapy ; physiopathology ; Ultrasonography, Doppler, Transcranial

OBJECTIVE: To establish a method for simultaneous determination of phytosterols and cholesterol precursors in human plasma by GC-MS to understand the metabolism of cholesterol in patients. METHODS: Sterols as TMS derivatives were separated and identified on HP-5MS column (30 m × 0.25 μm × 0.25 mm). The initial column temperature of 200°C. was held for 2 min, then increased at a rate of 15°C · min-1 to 280°C and maintained at this temperature for further 30 min. The internal standard was 5α-cholestane. The method was based on the alkaline hydrolysis of sterol esters, extraction of free sterols and derivatization. RESULTS: The calibration curves of the sterols were linear. Inter-day and intra-day RSDs were lower than 7.9% and 9.8%. The recoveries based on replicate analyses of plasma samples spiked with known amounts of sterol standards were between 89.5% - 106.3%. Plasma samples of 20 patients with hyperlipemia were determined by the method. The mean values of non-cholesterol sterols were: desmosterol (0.39 ± 0.08) mg · L-1, lathosterol (3.41 ± 0.83) mg · L-1, campesterol (3.12 ± 0.53) mg · L-1, and sitosterol (4.22 ± 0.67) mg · L-1. CONCLUSION: An optimized analytical method for simultaneous analysis of cholesterol, desmosterol, lathosterol, campesterol and sitosterol in plasma has been developed using capillary gas chromatography coupled to mass spectrometry (GC-MS) with multiple selected ion monitoring (SIM). With good accuracy and precision, it is suitable for the analysis of the individual difference of cholesterol metabolism. Copyright 2012 by the Chinese Pharmaceutical Association.

Objective To understand the different phenotype based on COL4A5 mutations and to analyze the correlation between mutant mRNA expression of COL4A5 gene and phenotype variability of XLAS females. Methods Skin biopsy specimens were obtained from 6 XLAS females with confirmed COL4A5 deletion mutations. Total RNA was isolated from cultured skin fibroblasts and RT-PCR was performed to amplify the fragment including the mutation sequences of COL4A5 gene. The PCR products were electrophoresed with 8% polyacrylamide gel. Each fragment of PCR product revealed under polyacrylamide gel was further analyzed with the optical absorptance (A). The A ratio of mutant over total mRNA of COL4A5 gene (total mRNA means the mutant mRNA plus normal mRNA) was analyzed with different phenotypes. Results Besides microscopic hematuria, the females often had gross hematuria and persistent and severe proteinuria when the mutant a5 (IV) mRNA expression was more than the normal. Whereas the XLAS females didn't had gross hematuria and proteinuria or had discontinuous and mild proteinuria when the mutant ?5 (Ⅳ) mRNA expression was less than the normal. The proteinuria was positively correlated with the expression ratio of mutant over total mRNA of COL4A5 gene in the females. Conclusions The quantity of the mutant mRNA expression of COL4AS gene is correlated with the phenotypic severity of XLAS females. The XLAS females with much more mutant mRNA expression of COL4A5 gene show more severe phenotypes of AS.

Objective To explore the relationship between primary hypertension and benign prostatic hyperplasia (BPH) in the elderly.Methods From August 2010 to June 2012,135 consecutively referred patients with BPH were enrolled in this study,in which 70 cases were BPH with hypertension,65 cases were isolated benign prostatic hyperplasia.All patients were questioned in detail about history,body weight and height were measured to calculate the body mass index (BMI).Prostate specific antigen (PSA) and fasting plasma glucose (FPG) and lipids were assayed in the study.The international prostate symptom score (IPSS) were recorded.Prostate volume (PV) was detected by abdominal ultrasound.Results The levels of IPSS and PV were higher in BPH with hypertension than simple BPH group [(18.9±7.5)scores vs.(13.2±7.8) scores,P＜0.05 ;(43.0±15.4) ml vs.(39.2 ± 13.9) ml,P＜ 0.05].Pearson analysis showed that PV was positively correlated with age and the years of hypertension (r=0.34,0.29,P＜0.05).After adjustment for age,PV was significantly greater in hypertension group with more than 15 years compared to less than 15 years of hypertension group.Conclusions Hypertension,particularly long-term hypertension is related to BPH in the elderly.The long term of hypertension may accelerate the occurrence and clinical progression of BPH.

Objective In this study,the phenotype heterogeneity of 2 male patients with X-linked Alport syndrome from one family was analyzed and the likely reasons were discussed by reviewing the literature.Methods The clinical data at the time of diagnosis and during 5 years follow-up of 2-male patients with X-linked Alport syndrome from one family were collected.The α5 (Ⅳ) chain expression in the epidermal basement membrane was detected by indirect immunofluorescence method.COL4A5 gene mutations in skin fibroblasts and genomic DNA were detected by using reverse transcription polymerase chain reaction and direct sequencing and PCR sequencing methods from skin fibroblasts and genomic DNA,respectively.Results The diagnostic age of patient Ⅲ 1 was 14 years old.He had only microscopic hematuria,and proteinuria was negative.A negative α5 (Ⅳ) chain staining pattern was detected in his epidermal basement membrane.After 5 years follow-up without drug treatment,he was 19 years old,had persistent microscopic hematuria and normal renal function.The urinary microalbumin was 19.2-31.8 mg/L.The diagnosis age of patient Ⅱ 4 was 29 years old.The hematuria and proteinuria were found at 22 years old.He was treated with tripterygium wilfordii for 1 year.His disease progressed to an end stage of renal disease and he received hemodialysis therapy at 24 years old.He had the renal transplantation surgery at 29 years old,just 2 months before he came to hospital.And his renal function was restored.After 5 years follow-up,his urine examination and renal function were normal.Both patients had a missense mutation c.3650G ＞ A(p.G1217D) in exon 41 in COL4A5 gene.Conclusions The different phenotypes of 2 male patients from one family with X-linked Alport syndrome were reported.The most possible reason for this is somatic mosaic variants in COL4A5 gene based on literature review.Physicians should be alert to phenotype heterogeneity in male X-linked Alport syndrome despite having the same gene mutation.

To analyze one case of multi-organ involvement of immunoglobulin G4-related disease and to review the related literatures.Through investigating the clinical data of one case of multi-organ involvement of immunoglobulin G4 (IgG4)-related disease,many related references were retrospected.IgG4-related disease and multi-organ involvement are used as the key words to search on Pubmed and Wanfang Database.According to the clinical manifestations,including serology,imaging,histopathology,responses to steroid therapy,a 65-year-old female patient was diagnosed as IgG4-related disease.The patient exhibited salivary gland swelling,lacrimal glands,and orbital soft tissues.And multiple organs such as pancreas,liver,bile duct,retroperitoneum,the lymph node,lung,paranasal sinuses,kidney and ureter were affected in the patient.Glucocorticoids are the mainstay of therapy and the recommended dose is 0.5-1.0 mg · kg-1 · d-1.Immunosuppressive agents need to be used in relapsing patients or in the patients with multi-organ involvement and serious complications.IgG4-related disease usually affects many systems and involves multiple organs,which is always misdiagnosed to other diseases.Both the correct diagnosis with multidisciplinary fields and the early treatment with glucocorticoids are very important.

Humans ; Molecular Biology ; Nephrotic Syndrome ; genetics

Adolescent ; Heart Valve Diseases ; etiology ; Heart Valves ; pathology ; Humans ; Lupus Erythematosus, Systemic ; complications ; pathology ; Male

Collagen Type IV ; genetics ; Female ; Fetal Development ; Humans ; Nephritis, Hereditary ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; methods

Objective To study the symptomatic characteristics distribution of Chinese medicine of patients with pulmonary hypertension.Methods Symptomatic information of 52 patients with pulmonary hypertension was collected to find the symptomatic characteristics of Chinese medicine,and analyse the correlation of symptom and pulmonary hypertension with different types and degrees.Results The proportion of TCM symptom of pulmonary hypertension from high to low were syndrome of strong Qi sinking(96.2%),syndrome of blood stasis(75.0%),syndrome of deficiency of lung Qi(42.3%),syndrome of deficiency of heart Qi(30.8%),syndrome of deficiency of spleen Qi(17.3%).Syndrome of blood stasis was the most closely related to the congenital cardiopathy(CC) with pulmonary hypertension.Syndrome of deficiency of heart Qi was the most closely related to the degree of pulmonary hypertension increased pressure.The next one was syndrome of deficiency of lung Qi.Conclusion Syndrome of strong Qi sinking,syndrome of blood stasis,syndrome of deficiency of heart Qi and syndrome of deficiency of lung Qi are the main syndromes of pulmonary hypertension.Syndrome of strong Qi sinking is the most closely related to the pulmonary hypertension.