Objectives To summarize the characteristics,differential diagnosis and management of incomplete 17 alpha-hydroxylase/17,20-1yase deficiency(17 OHD)of Chinese patients.Methods Six cases of incomplete 17 OHD from Peking Union Medical College Hospital were studied retrospectively through analyzing their clinical data,and the molecular pathogenic mechanism was discussed after literature review.Results Four cases of 46,XX incomplete 17 OHD were reported.The clinical characteristics included female phenotype,various degrees of breast development and absent or sparse axillary/pubic hair, oligomenorrhea or secondary amenorrhea,recurrent luteinized ovarian cysts,hypogonadism with persistent hyperprogesteronemia or high serum 17 alpha-hydroxyprogesterone level,with or without hypokalemic hypertension.There were also 2 cases of 46,XY incomplete 17 OHD,in which ambiguous genitalia were present besides hypokalemic hypertension.Conclusions Incomplete 17 OHD is a very rare form of congenital enzymatic deficiencies of steroid synthesis,which should be included in the differential diagnosis when there are menstrual disorders,sexual infantilism,recurrent ovarian cysts or ambiguous genitalia.Under such circumstances,hyperprogesteronemia offers a valuable clue for further investigation.

Background It has been determined that dipeptidyl peptidase Ⅲ (DPPⅢ) plays an important role in the metabolism and modification of proteins and DPPⅢ of human has highly homologous to rat.Researches have shown that DPPⅢ is associated with the formation of cataract.However,few relevant studies have been reported.ObjectiveThe present study is to find out the relationship between the expression of DPPⅢ in rat lenses and age-related cataract.Methods Lenses were obtained from general Wistar rats of ages 3,6,9,or 12 weeks old (10 lenses each ) and homogenized with different concentrations of standard bovine serum.The proteins were resolved using SDS-PAGE gel electrophoresis.Peak concentration and total concentration of DPPⅢ protein in lenses from rats of different ages were detected by Western blot.Enzyme activity of DPPⅢ was determined by monitoring the amount of dipeptides removed from a special substrate (Arg-Arg-4mb NA) by measuring the absorbance with UV-2500PC at 525 nm.The relationship between the enzyme activity of DPPⅢ in lenses and age of rats was evaluated using regression analysis.Results DPPⅢ was detected at a molecular weight of 82000 Da.The peak concentration and total concentration of DPPⅢ in normal rat lenses increased with the growth of age.The total protease activity of DPPⅢ in the lenses of rats was correlated with the ages of the rats (r=0.99,P＜0.05).Conclusion DPPⅢ may be involved in the alteration of crystallin during the development of lenses,and it may play an important role in the formation and aggravation of age-related cataract.

[ ABSTRACT] AIM:To investigate the effect of oxidized low-density lipoprotein ( ox-LDL) on autophagy in mac-rophages and the underlying molecular mechanisms.METHODS:RAW264.7 macrophages were pretreated with 2 mg/L anti-CD36 monoclonal antibody (anti-CD36 mAb), 5 μmol/L diphenyleneiodonium (DPI), 3 mmol/L 3-methyladenine (3-MA) or 1μmol/L rapamycin for 1 h and then treated with ox-LDL (100 mg/L) for 12 h.The viability of the cells was measured by MTT assay.The activities of lactic dehydrogenase ( LDH) in the medium and nicotinamide adenine dinucleoti-de phosphate ( NADPH) oxidase, superoxide dismutase ( SOD) in the cells as well as the levels of intracellular reactive ox-ygen species ( ROS) and malondialdehyde ( MDA) were determined to characterize the membrane integrity and the oxida-tive stress, respectively.The protein levels of beclin-1 and microtubule-associated protein 1 light chain 3-II ( LC3-II) , 2 important molecular markers of autophagy, were examined by Western blotting.RESULTS:ox-LDL induced autophagy in
RAW264.7 macrophages as assessed by upregulation of beclin-1 and LC3-II.Similar to 3-MA, an autophagy inhibitor, an-ti-CD36 mAb significantly inhibited the ox-LDL-induced upregulation of beclin-1 and LC3-II.Anti-CD36 mAb suppressed the ox-LDL-induced oxidative stress as revealed by decreased NADPH oxidase activation, ROS and MDA generation as well as increased SOD activity.Similar results were observed in the cells pretreated with DPI, a NADPH oxidase inhibitor.Mo-reover, DPI significantly inhibited the ox-LDL-induced upregulation of beclin-1 and LC3-II.Inaddition, the decrease in the cell viability and increase in LDH release induced by ox-LDL were promoted by 3-MA and blocked by rapamycin ( an auto-phagy inducer).CONCLUSION: ox-LDL induces autophagy in RAW264.7 macrophages, which may be involved in CD36-mediated ox-LDL uptake and subsequent activation of oxidative stress, and moderate activation of autophagy may pro-tect macrophages from ox-LDL-induced injury.

Objective To study the occurrence site characteristics of middle cerebral artery aneurysm (MCAA ) in volume CT digital subtraction angiograhy(VCTDSA) .Methods The image characteristics in 72 cases of MCAA from May 2009 to January 2011 were retrospectively analyzed ,according to the running of middle cerebral artery ,the occurrence sites of aneurysm were divided into four categories :M1 segment ,M2 bifurcation ,M2 distal and M3-M5 segment ,the aneurysm number was conducted the statistics and the image characteristics were analyzed ;two neuroradiologists adopted the double-blind method to measure the MCAA angle in bifurcation of M2 segment and compared it with the bifurcation angle in the normal middle cerebral artery ,the difference between them were statistically analyzed .Results (1)M1 segment aneurysms were 7 cases(9 .70% ) ,M2 bifurcation aneurysms were 58 ca-ses(80 .56% ) ,M2 distal aneurysms were 5 cases(6 .94% ) and M3-M5 segment aneurysms were 2 cases(2 .78% ) .(2)The angle in M2 bifurcation of the normal middle cerebral artery was(99 .30 ± 22 .96)° ,M2 bifurcation aneurysm angle was(139 .26 ± 27 .61)° , the difference between them showing statistical significance (P<0 .01) .(3)The difference between left and right of M 2 bifurcation angle in the normal middle cerebral artery had no statistical significance (P>0 .05) .(4)The M2 bifurcation angle in ruptured aneu-rysm was(133 .98 ± 30 .24)° ,which in unruptured aneurysms was(144 .53 ± 21 .81)° ,the difference between them had no statistical significance(P>0 .05) .Conclusion MCAA mainly occurred in M2 bifurcation .There is significant difference in M2 bifurcation an-gle between the aneurysm group and non-aneurysm group ,M2 bifurcation angle is increased ,the probability of aneurysm occurrence is increased .

OBJECTIVETo observe the effect of natural type ginsenoside Rg2 (Rg2) and its stereoisomers [20 (R)-Rg2 and 20 (S)-Rg2] at different concentrations on oxygen-glucose deprivation/ reperfusion (OGD/R) induced cortical neuronal injury model in vitro, and to explore the mechanism, and compare their differences of action.

METHODSCortical neurons after 7-day culture were randomly divided into 5 groups, i.e., the control group, the model group, the Rg2 group, 20 (R) -Rg2 group, and 20 (S) - Rg2 group. Cortical neurons in the Rg2 group, 20 (R)-Rg2 group, and 20(S)-Rg2 group were pretreated with 20, 40, and 80 μmol/L Rg2, 20 (R) -Rg2, and 20 (S) -Rg2 for 24 h to prepare OGD/R model. The cell survival rate, the activity of Caspase-3, the intracellular Ca2+ concentration, contents of superoxide dismutase (SOD) and malondialdehyde (MDA) were detected 24 h later.

RESULTSCompared with the control group, cell survival rates and activities of SOD obviously decreased, the activity of Caspase-3, Ca2+ fluorescent optical gray value, and contents of MDA significantly increased with statistical difference (P < 0.05). Compared with the model group, cell survival rates and activities of SOD obviously increased, the activity of Caspase-3, Ca2+ fluorescent optical gray value, and contents of MDA significantly decreased in 20 μmol/L Rg2 group, 40 μmol/L 20 (R) -Rg2 group, and 80 μmol/L 20 (S) -Rg2 group (P < 0.05). Compared with 20(S)-Rg2 group, cell survival rates increased and contents of MDA significantly decreased in 20, 40, and 80 μmol/L Rg2 and 20 (R)-Rg2 groups (P < 0.05). The activity of Caspase-3 decreased and contents of SOD increased in 80 μmol/L 20 (R)-Rg2 group, and 40, 80 μmol/L Rg2 groups (P < 0.05). Ca2+ fluorescent optical gray value decreased in 40, 80 μmol/L Rg2 and 20 (R)-Rg2 groups (P < 0.05). Compared with 20 (R)-Rg2 group, Ca2+ fluorescent optical gray value decreased in 80 μmol/L Rg2 group (P < 0.05); contents of SOD increased in 40 and 80 μmol/L Rg2 groups (P < 0.05); contents of MDA decreased in 20, 40, and 80 μmol/L Rg2 groups (P < 0.05).

CONCLUSIONSRg2 and its stereoisomers could improve cell vitality of cortical neurons against OGD/R induced injury. This might be related to improving anti-apoptotic capacities and antioxidant abilities, and reducing Ca2+ inflow. Besides, the neuroprotective effect of 20 (R) -Rg2 was better than that of 20 (S) -Rg2, but inferior to that of Rg2.

Antioxidants ; metabolism ; Apoptosis ; Calcium ; metabolism ; Caspase 3 ; metabolism ; Cell Survival ; Cells, Cultured ; Ginsenosides ; pharmacology ; Glucose ; Humans ; Malondialdehyde ; metabolism ; Neurons ; drug effects ; Neuroprotective Agents ; pharmacology ; Oxygen ; Random Allocation ; Reperfusion Injury ; Stereoisomerism ; Superoxide Dismutase ; metabolism

OBJECTIVETo summarize clinical outcomes of locking compression plate (LCP) combined with minimally invasive percutaneous plate osteosynthesis (MIPPO) for the treatment of Pilon fracture.

METHODSFrom January 2009 to December 2012, Pilon fracture patients treated by LCP with MIPPO were retrospectively analyzed. All open fractures, pathologic fractures and those who had limb vascular disease or nerve injury were excluded. Thirty-eight patients were enrolled, including 29 males and 9 females aged from 21 to 78 years old with an average of 48 years old. According to AO classification, 20 cases were type B, 18 cases were type C. Operative time, blood loss, reduction quality, time of fracture healing complications and postoperative ankle joint function were applied for evaluating clinical outcomes, AOFAS scoring were used for assessing postoperative clinical effects.

RESULTSAll patients were followed up from 13 to 24 months (averaged 18 months). All patients obtained bone union without any plate failures or loss of fixation/reduction. One patient occurred superficial wound infection, and resolved with antibiotics and local wound care. Postoperative average AOFAS score was 81 (ranged 65 to 97).

CONCLUSIONLCP with MIPPO for Pilon fratcure has advantages of less invasion, fewer complications and satisfactory ankle function.

Adult ; Aged ; Bone Plates ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Male ; Middle Aged ; Minimally Invasive Surgical Procedures ; methods ; Retrospective Studies ; Tibial Fractures ; surgery

OBJECTIVETo search for an effective therapy for allergic rhinitis.

METHODSOne hundred and twenty cases of allergic rhinitis were randomly divided into a treatment group (n=60) treated mainly with penetration needling, Yintang (EX-HN 3)-through-Bigen (root of nose), Sibai (ST 2)-through-Bigen, Yingxiang (LI 20)-through-Bigen, and a control group (n=60) treated with oral Biyankang, 4 tablets each time, 3 times daily. Their therapeutic effects were compared.

RESULTSThe total effective rate was 85.0% in the treatment group and 60.0% in the control group, with a very significant difference between the two groups (P<0.01).

CONCLUSIONThe penetration needling as main therapy has a definite therapeutic effect on allergic rhinitis, which is significantly better than that of oral Biyankang.

Acupuncture Points ; Acupuncture Therapy ; Humans ; Nose ; Rhinitis, Allergic

AIM:To investigate the inhibitory effect of ethanol extract of propolis (EEP) on oxidized low-den-sity lipoprotein ( ox-LDL )-induced macrophage apoptosis and the underlying molecular mechanisms . METHODS:RAW264.7 macrophages were pretreated with EEP (7.5, 15 and 30 mg/L), 4-phenylbutyric acid (PBA, 5 mmol/L) or diphenyleneiodonium ( DPI, 5μmol/L) for 1 h and then treated with ox-LDL (100 mg/L) or tunicamycin ( TM, 4 mg/L) for 24 h.The cell viability and apoptosis were determined by MTT assay and Annexin V-FITC apoptosis detection kit , re-spectively.The activity of superoxide dismutase (SOD), and the levels of reactive oxygen species (ROS) and malondial-dehyde (MDA) in the cells were measured.The protein levels of caspase-12, a proapoptotic molecule under endoplasmic reticulum stress ( ERS) , were examined by Western blot analysis .RESULTS:Like PBA ( an ERS inhibitor ) , EEP pro-tected RAW264.7 macrophages from ox-LDL-induced injury in a dose-dependent manner , as assessed by the increased cell viability and the decreased apoptotic rate .The decrease in cell viability and increase in apoptotic rate induced by TM , an ERS inducer, were also attenuated by EEP .Moreover, EEP suppressed ox-LDL-induced oxidative stress as revealed by the decreased generation of ROS and MDA as well as elevated SOD activity , which were similar to DPI , an oxidative stress in-hibitor.Furthermore, EEP significantly suppressed ox-LDL-or TM-induced activation of caspase-12.Similar results were observed in the cells pretreated with PBA or DPI and then treated with ox-LDL.CONCLUSION: EEP may protect RAW264.7 macrophages from ox-LDL-induced apoptosis and the mechanism is at least partially involved in the ability of EEP to suppress oxidative stress and subsequent activation of caspase -12.

Humans ; Forensic Pathology

Recent studies suggest that vitamin D is related to allergic rhinitis (AR). In this review, we first discuss the physiology and metabolism of vitamin D, then we review the function of vitamin D in the immune system, and above all, we highlight the current research regarding the role of vitamin D in AR. Finally, we find that there are both experimental and clinical studies showing that vitamin D is associated with AR, although the results are not consistent and even conflicting. Evidences from those clinical studies show a slightly tendency that serum vitamin D level might be inversely associated with the risk of AR. Meanwhile, it seems that gender and age may influence the relationship between vitamin D and AR. However, because of the heterogeneity in defining AR, differences in study design and so on, all these findings need to be confirmed by further studies. Additional clinical studies as well as experimental research are needed to better understand how vitamin D influences AR.
Hypersensitivity ; Immune System ; Metabolism ; Physiology ; Population Characteristics ; Rhinitis, Allergic ; Vitamin D ; Vitamins