A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.

Acute intermittent porphyria (AIP) is a rare inherited disorder, which is caused by the partial deficiency of hydroxymethylbilane synthase (HMBS), an enzyme of the heme biosynthetic pathway. Abdominal pain, neuropsychiatric disturbance and neuropathy are the typical manifestations of the disease. Complications such as posterior reversible encephalopathy syndrome (PRES), a rare type of brain lesion present on MRI, are also observed in patients with AIP.

Cancer nanomedicine: mechanisms, obstacles and strategies.

Targeting nanoparticles to cancers for improved therapeutic efficacy and decreased side effects remains a popular concept in the past decades. Although the enhanced permeability and retention effect serves as a key rationale for all the currently commercialized nanoformulations, it does not enable uniform delivery of nanoparticles to all tumorous regions in all patients with sufficient quantities. Also, the increase in overall survival is often modest.

Association of single-nucleotide polymorphisms in the gene and its gene- environment interactions with diabetic nephropathy in Chinese patients with type 2 diabetes.

Aims: To investigate the association of several single nucleotide polymorphisms (SNPs) within gene and additional gene- smoking interaction with diabetic nephropathy (DN) risk in Chinese patients with type 2 diabetes mellitus (T2DM).

Methods: A total of 865 participants (570 males, 295 females) were selected, including 430 T2DM complicated DN patients and 435 controls (T2DM patients without DN). Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs and smoking.

Effect of intravitreal injection of bevacizumab-chitosan nanoparticles on retina of diabetic rats.

Aim: To investigate the effects of intravitreal injection of bevacizumab-chitosan nanoparticles on pathological morphology of retina and the expression of vascular endothelial growth factor (VEGF) protein and VEGF mRNA in the retina of diabetic rats.

Methods: Seventy-two 3-month aged diabetic rats were randomly divided into 3 groups, each containing 24 animals and 48 eyes. Both eyes of the rats in group A were injected into the vitreous at the pars plana with 3µL of physiological saline, while in groups B and C were injected with 3µL (75µg) of bevacizumab and 3µL of bevacizumab-chitosan nanoparticles (containing 75µg of bevacizumab), respectively.

Allicin attenuates inflammation and suppresses HLA-B27 protein expression in ankylosing spondylitis mice.

Here we aimed to determine the therapeutic effect of allicin on ankylosing spondylitis (AS) and explore the mechanism(s) of action. AS mouse model was constructed by transferring the HLA-B2704 gene into Kunming mice and verified by RT-PCR and CT imaging. Verified AS mice were randomly divided into model group (n = 6) and allicin-treated groups (50, 100, and 200 mg/kg, resp.

[Neuropeptide oxytocin and male infertility].

Objective: To analyze the level of the oxytocin (OT) and the expression of oxytocin receptor (OTR) in males with idiopathic infertility.

Methods: Sixty-five infertile males aged 20 -45 years were divided according to their semen parameters into an idiopathic oligozoospermia group (OG, n = 20), an idiopathic asthenozoospermia group (AG, n = 25), and an idiopathic oligoasthenozoospermia group (OAG, n = 20). Another twenty 20-45 years old healthy male volunteers with a natural childbearing history were included in the control group (CG).

Thyroid function and its clinical significance in POEMS syndrome.

POEMS syndrome, also known as Crow-Fukase syndrome, represents a rare multisystem syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes. Hypothyroidism is one of the common endocrine abnormalities which are central features of POEMS syndrome. The clinical data associated with the measurement of thyroid function and its clinical significance in POEMS syndrome is still rare.

[Bortezomib-based combination therapy for relapsed or refractory multiple myeloma].

Objectives: To investigate the efficacy and toxicity of bortezomib based combination therapy for Chinese patients with relapsed or refractory multiple myeloma (MM), and to determine the combination regimen, dosage and cycles in application of bortezomib for MM therapy.

Methods: Forty-six patients with refractory or relapsed myeloma were treated with bortezomib (1.3 mg/m2) as an intravenous bolus twice weekly for 2 weeks on day 1, 4, 8, and 11 in a 3-4 week cycle, in combination with dexamethasone, dexamethasone plus thalidomide, CD (C-cytoxan, D-dexamethasone), MD (M-mitoxsnteone), DCEP (E-etoposide, P-platinol), and DT-PACE regimens (T-thalidomide, A-adriamycin).

Dysfunction of AQP7 in the periadventitial fat: A novel trigger of atherosclerosis.

Vascular adventitial lesion as a new etiological factor of atherosclerosis (AS) has been confirmed by the results of several different animal models, and some evidence supports adventitial inflammation as the main cause, but the exact mechanism is still elusive. The data from some studies confirm that some link exists between the adventitial inflammation (which also might happen in the periadventitial fat) and atherosclerotic lesions. Aquaporin7 (AQP7) as an aquaglyceroporin, which regulates the permeation of glycerol through the cell membrane and located in the adipose tissue, shows some relationship with obesity.

[A study of interferon-gamma induced airway mucous cell apoptosis and its mechanisms].

Objective: To investigate the effect of interferon-gamma (IFN-gamma) on airway mucous cells and its mechanisms.

Methods: (1) Normal human bronchial epithelial cells (NHBEs) were cultured under specific conditions, and treated by IFN-gamma for 3 days. The cells were analyzed with fluorescein isothiocyanate (FITC) and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay.