Objective To analyze the clinical information of a family with one patient who have systemic lupus erythematosus (SLE) and Fabry disease,as well as the enzymatic activity and gene mutation in these family members.Methods Clinical characteristics were collected from the proband and her family members.Peripheral blood samples from three members of this family were collected and the enzymatic activity was measured by fluorimetrie substrate assay.Genomic DNA was extracted from one male member with significantly decreased enzyme activity,the 7 exons and their flanking introns of GLA gene were amplified by PCR and directly sequenced.Results The enzyme activity of two family members was significantly decreased,the genetic analysis of the male member revealed a missense mutation in exon 2:c.334C＞T (CGC＞TGC)( p.R112C ).Family members except the proband had no definite evidence to support the presence of SLE.Conclusion The coexistence of SLE and Fabry disease is extremely rare.Immunological test,enzymatic activity and gene mutation analysis seem to be helpful for the differential diagnosis.

OBJECTIVETo explore the operation methods and clinical effects of transfer of the medial half of the coracoacromial ligament to reconstruct the coracoclavicular ligament in treating complete acromioclavicular joint dislocation.

METHODSFrom January 2006 to June 2012,26 patients with acute complete acromioclavicular joint dislocation underwent surgery. Transfer of the medial half of the coracoacromial ligament to reconstruct the coracoclavicular ligament, additional clavical hoot plate and Kirschner wires fixation, were performed in all the patients. Among the patients, 18 patients were male and 8 patients were female, with an average age of 36.7 years old (ranged from 25 to 51 years). The duration from injury to operation was from 3 to 12 days with an average of 5 days. According to the Rockwood classification, 4 cases were grade III and 22 cases were grade V . Clinical manifestation included local swelling, tenderness with snapping, limitation of shoulder joint motion. In preoperative bilateral shoulder joint X-rays, the injured coracoclavicular distance was (16.2 ± 5.0) mm which was significantly wider than that of uninjured sides (7.6 ± 1.0) mm. Clinical results were evaluated according to X-rays and Constant-Murley score.

RESULTSAll incisions obtained primary healing after operation without complication of infection, internal fixation breakage, redislocation. All the patients were followed up from 12 to 30 months with an average of 18 months. Kirschner wires and internal fixation plate were removed at 1 month and 8-10 months after operation, respectively. At final follow-up, the motion of shoulder joint recovered to normal and a no pain joint was obtained. According to Constant-Murley score, 24 cases got excellent results and 2 cases good. There was no significant difference after operation between the injured coracoclavicular distance and the uninjured contralateral side [(7.7 ± 1.2) mm vs (7.6 ± 1.0) mm), P > 0.05].

CONCLUSIONTransfer of the medial half of the coracoacromial ligament to reconstruct the coracoclavicular ligament, additional fixation using hook plate and Kirschner wires is the effective surgical method in treating complete acute acromioclavicular joint dislocation.

Acromioclavicular Joint ; injuries ; Adult ; Female ; Humans ; Joint Dislocations ; surgery ; Ligaments, Articular ; surgery ; Male ; Middle Aged ; Reconstructive Surgical Procedures ; methods

We retrospectively reviewed the clinical records of 12 systemic lupus erythematosus (SLE) patients with thrombotic thrombocytopenic purpura (TTP) admitted into Peking Union Medical College Hospital (PUMCH) during October 2008 to September 2013.TTP occurred in 0.45％ (12/2 693) of patients with SLE.The median age (2 males,10 females) was 23 years.Their SLEDAI scores ranged from 12 to 30.All patients had significant thrombocytopenia and renal abnormalities.Ten of them bad acute renal failure.Cardiac involvement and neurological deficits were observed in 9 and 8 of them respectively.Eight of them had injuries of more than 4 organs.Renal biopsy of 3 patients revealed lupus nephritis (type Ⅳ,n =2 ; type Ⅴ,n =1) and thrombotic microangiopathy.Eleven TTP patients received steroid pulse therapy (1 g/d,3 days) and six of them survived.Six patients were rescued by therapeutic plasma exchange and 4 of them recovered.Among another 6 patients not on plasma exchange therapy,only 3 recovered.Finally 2 died,3 gave up with exacerbated symptoms after therapy and 7 survived.

OBJECTIVETo investigate the feasibility of real-time elastography for quantitative evaluation of liver fibrosis in a rat model.

METHODSA total of 70 male Wistar rats were included in the group for dimethylnitrosamine (DMN)-induced liver injury, and 10 saline-injected rats were used as normal control. Hepatic injury was induced by a single intraperitoneal injection of DMN at a dose of 50 mg/kg of body weight. Nine or ten rats in the group with DNM injected and one or two rats in the normal control group were randomly selected and sacrificed at each of the following post-injection time: day 5, 7, 10, 14, 21, 24, and 28. And their livers were taken for pathology analysis. All the rats underwent real-time elastography before sacrificed in order to acquire area ratio of low-strain region (% AREA) and liver fibrosis index (LF index) which were compared with the stage of liver fibrosis and grade of necroinflammatory pathologically. By the different data, Spearman correlation analysis, rank-sum test or receiver operating characteristic curve was used.

RESULTSAmong 58 successfully modeled rats, there were nine, 13, 14 and 12 rats of S1, S2, S3 and S4 liver fibrosis on pathology, respectively, which were with or without mild necroinflammatory. The other 10 rats were found to be S0 with severe necroinflammatory. Values of LF index and % AREA both increased with liver fibrosis stage (P less than 0.05). There was certain correlation between LF index and liver fibrosis stage (r=0.643, P=0.000), so was % AREA and liver fibrosis stage (r=0.662, P=0.000). As for LF index, Areas under the receiver operating characteristic curve (Az) was 0.943, 0.890, 0.743 and 0.821 for the diagnosis of hepatic fibrosis S1 or higher, S2 or higher, S3 or higher and S4, respectively; as for % AREA, they were 0.948, 0.883, 0.772 and 0.842, respectively. However, we found a significant difference for LF index or % AREA between S0 with and without severe inflammatory activity rats (P=0.005 and P=0.017).

CONCLUSIONReal-time elastography is available for quantitative assessment of liver fibrosis in rats induced by DMN, but severe inflammatory activity can affect its accuracy.

Animals ; Dimethylnitrosamine ; adverse effects ; Elasticity Imaging Techniques ; Liver ; pathology ; Liver Cirrhosis, Experimental ; chemically induced ; pathology ; Male ; Rats ; Rats, Wistar

Adolescent ; Adult ; Brain Neoplasms ; diagnosis ; metabolism ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Meningeal Neoplasms ; diagnosis ; metabolism ; pathology ; surgery ; Meningioma ; diagnosis ; metabolism ; pathology ; surgery ; Middle Aged ; Mucin-1 ; metabolism ; Neoplasm Recurrence, Local ; Reoperation ; Retrospective Studies ; Tomography, X-Ray Computed ; Vimentin ; metabolism ; Young Adult

The purpose of this study was to determine the combined effect of transmyocardial laser revascularization (TMLR) and the implantation of endothelial progenitor cells (EPCs) on cardiac function of ischemic hearts in canines. The left anterior descending artery (LAD) was occluded to establish the canine model of acute myocardial infarct (AMI). Four weeks later, the animals were randomly divided into four groups: TMLR group, in which transmyocardial laser-induced channels were established at the ischemic region; EPCs+TMLR group, in which EPCs were locally transplanted into laser-induced channels at the ischemic region; EPCs group, in which the EPCs were injected into the ischemic region; control group, in which the AMI animals received neither TMLR nor EPCs. The peripheral blood (50 mL) was sampled in all groups. Mononuclear cells from the peripheral blood were separated and cultured to obtain spindle-shaped attaching (AT) cells in vitro. AT cells were labeled with 1, 1'-dioctadecyl-1 to 3,3, 3',3'-tetramethyl-indocarbocyanine perchlorate (DiI) before injecting into the laser-induced channels or ischemic region. Four weeks after the first operation, TMLR was performed in the TMLR group and EPCs+TMLR group, and at the same time, the EPCs originating from the AT cells were mixed with calcium alginate (CA). Then the EPCs-CA composites were implanted into myocardial channels induced by laser in the EPCs+TMLR group, and into the myocardial infarct area in the EPCs group. All dogs underwent echocardiography at second month after LAD occlusion. Finally the samples of myocardium around the LAD were subjected to histochemical and immunohistologic examinations. The results showed there was no significant difference in the diameter of left atrium and ventricle before treatment among all groups (P>0.05). Eight weeks after modeling, the regional contractility in the LAD territory in the EPCs+TMLR group was increased as compared with control group and TMLR group, but there was no significant difference between control group and TMLR group. Neoangiogenesis was observed in the EPCs+TMLR group, and the fibrosis was seen in the TMLR group. There was no significant difference in neoangiogenesis around the channels induced by laser among EPCs+TMLR, EPCs and TMLR groups. It was concluded that TMLR combined with EPCs could improve the regional and global cardiac function in AMI, and augment neovascularizaiton in channels of ischemic myocardium induced by laser.

OBJECTIVETo compare brain lead accumulation and neurotoxicity induced by lead under drinking purified water and tap water on rat.

METHODSAll 104 male weaning SD rats were randomly divided into eight groups, matched-four pairs according to drinking water: tap water, purified water, tap water with lead 50 mg/L(lead acetate water-solution), purified water with lead 50 mg/L, tap water with lead 200 mg/L, purified water with lead 200 mg/L, tap water with lead 800 mg/L. All were fed with normal food and environmental cognitions kept consistent Morris water maze(including Place Navigation, Spatial Probe Test, Visible Platform Trial) was measured to test rat spatial learning at the 12 and 24 week. At the end of the experiment (28 week), rats were killed and the lead of brain and blood was measured by Graphite furnace atomic absorption spectrometric method; the NR1, NR2A, NR2B of NMDAR (N-methyl-D-aspartame receptor) in hippocampus were analyzed by RT-PCR.

RESULTSUnder the same lead exposure, no significant differences were observed in blood lead, however, brain lead level showed higher in drinking purified water group than that in tap water group. Expression of NR1, NR2A and NR2B in hippocampus of the rats drinking purified water was lower than those drinking tap water, especially at low lead exposure (50 mg/L) (P < 0.05). In the 24 week Morris water maze, place navigation test's escape latency showed significantly prolonged at the rats drinking purified water as compared with those drinking tap water on the pairs of 50 mg/L and 200 mg/L pb2+ groups (P < 0.05), and the differences occurred in early 1-2 days.

CONCLUSIONCompared with drinking tap water, drinking purified water might increase the accumulation of brain lead, lower NR1, NR2A, NR2B expression and delay the spatial learning and memory ability under chronic lead exposure in water.

Animals ; Drinking ; Intelligence ; drug effects ; Lead ; toxicity ; Male ; Maze Learning ; drug effects ; Memory ; drug effects ; N-Methylaspartate ; Rats ; Rats, Sprague-Dawley ; Receptors, N-Methyl-D-Aspartate ; drug effects

OBJECTIVETo investigate the therapeutic effect of digital dorsal flap based on vascular network for skin defects at fingers.

METHODSFrom August 2005 to August 2010, 49 cases with 61 skin defects at fingers were treated with the digital dorsal flaps, including 19 at the index fingers, 19 at the middle fingers, 16 at the ring fingers and 3 at the little fingers. The defects were 42 at the distal end, 12 at the middle segment and 7 at the proximal segment. The flaps size ranged from 27 mm x 20 mm to 10 mm x 8 mm.

RESULTS61 flaps in 49 cases survived completely. 52 fingers were followed up for 6-22 months. The aesthetic and functional results were both satisfactory. The flaps sensation was graded as S3, with a discrimination distance of 6-9 mm (median, 7.6 mm). No complication happened in donor sites.

CONCLUSIONSThe digital dorsal flap based on vascular network has reliable blood supply with less morbidity to the main artery. It is safe and easily performed with good effect for skin defect at finger.

Adolescent ; Adult ; Aged ; Female ; Finger Injuries ; surgery ; Humans ; Male ; Middle Aged ; Skin ; injuries ; Skin Transplantation ; methods ; Soft Tissue Injuries ; surgery ; Surgical Flaps ; Treatment Outcome ; Young Adult

Asian Continental Ancestry Group ; Bartter Syndrome ; genetics ; Child ; Chloride Channels ; genetics ; Humans ; Male ; Mutation

Adult ; Female ; Follow-Up Studies ; Hepatitis B Surface Antigens ; blood ; Humans ; Liver Transplantation ; Male ; Middle Aged ; Tissue Donors