Objective To evaluate the association of thrombin activatable fibrinolysis inhibitor (TAFI)and its encoding gene CPB2 polymorphism with myocardial infarction.Methods CPB2 gene (Thr325Ile)polymorphism were typed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)in patients of myocardial infarction(n=100)and a control group(n=90).The antigen(Ag) and the activity(Act)of TAFI were determined by ELISA and chromogenic assay respectively.The relationship between Thr325Ile gene polymorphism and TAFI Ag and Act were also analyzed.Results In MI group TAFI Ag and Act[TAFI Act(51.4?9.3)?g/ml,TAFI Ag(145.6?33.5)%]were significently higher than those of control group[TAFI Act(25.7?5.6)?g/ml,TAFI Ag(76.5?24.8)%] (t=22.927 2,P

Objective To evaluate the surgical treatment for renal cell carcinoma with inferior vena cava tumor thrombus and the clinical significance of multidisciplinary treatment. Methods Two cases of renal cell carcinoma with inferior vena cava thrombus diagnosed by Doppler ultrasonography and CT were included in this retrospective analysis. The tumor thrombus was in level Ⅱ in one case and in level Ⅳ in the other. Coagulation test and complete blood count were done again before surgery. Human albumin, fibrinogen, prothrombin complex, plasma, platelet, UW and irrigating solution were prepared before the operation.Under general anesthesia, surgery was performed using abdomen inverted Y shaped incision. Right radical nephrectomy was finished by the urological surgeon; the vena cava was completely dissected from the renal vein level to the secondary porta of the liver by the hepatobiliary surgeon, the vena cava and the surrounding branch vein were blocked in the upper and lower vena cava tumor thrombus; tumor thrombus was removed completely by the vascular surgeon. In one case (patient with level Ⅳ thrombus ) where the tumour thrombus invaded the wall of the vena cava, the thrombus was found to be extending to the cavo-atrial junction but not into the right atrium. The left femoral venous-right atrial bypass was established, the cardiopulmonary bypass lasted for 241 mia, and the aorta was blocked for 18 min. Salvage autotransfusion was used during surgery, and the hepatic vein of the secondary liver porta was anastomosed to artificial vascular graft.The data for surgical indication, operation time, operative blood loss and postoperative hospital stay were analyzed. Results Right radical nephrectomy and inferior vena cava thrombectomy were performed successfully, and the two patients were discharged on the 15th and 27th day after surgery, respectively. The two patients were followed up for 1 and 16 months after surgery, respectively, and both survived without local recurrence and distant metastasis. Conclusion Radical nephrectomy and inferior vena cava thrombectomy is the preferred method for patients without metastasis, and multidisciplinary cooperation could shorten the operation time, reduce the tumor recurrence and increase the survival rate of patients.

OBJECTIVETo explore the value of anal sphincter electromyography (ASEMG), orthostatic hypotension (OH), and dizziness in diagnosing multiple system atrophy (MSA).

METHODThe characteristics of ASEMG and OH were compared among patients with dizziness (MSA and non-MSA), patients without OH (MSA and non-MSA), and patients with probable MSA (OH and non-OH).

RESULTSTotally 476 patients underwent ASEMG examinations. Dizziness was the onset symptom in 69 patients. Between the MSA group and non-MSA group, the mean duration of dizziness [(14.6 +/- 2.1) vs. (12.8 +/- 2.0) ms, P < 0.01] and satellite potential occurrence rate [(22.7 +/- 11.8)% vs. (12.2 +/- 8.9)% , P < 0.01] were significantly different, while the OH rate (84.6% vs. 55.2% ) and the difference of the blood pressure between standing and supine positions were not significantly different. In 162 patients with symptom of dizziness, the mean duration of dizziness [(15.3 +/- 2.7) vs. (12.8 +/- 1.9) ms, P < 0.001], satellite potential occurrence rate [(25.4 +/- 12.8)% vs. (13.5 +/- 10.4)%, P < 0.001] , and difference of the diastolic blood pressure [(18.5 +/- 17.0) vs. (11.7 +/- 12.7) mmHg, P < 0.05] were significantly different between the MSA group and non-MSA group, while the normal rate of blood pressure at standing position (60% vs. 41.9%) and the difference of systolic blood pressure were not significantly different. In 146 patients with abnormal blood pressure at standing and supine positions, the mean duration of dizziness [(15.0 +/- 2.4) vs. (12.8 +/- 1.7) ms, P < 0.001] and satellite potential occurrence rate [(22.0 +/- 12.2)% vs. (10.6 +/- 8.5)%, P < 0.001] were significantly different between the MSA group (n = 61) and non-MSA group (n = 85). In 125 patients with probable MSA, the mean duration of dizziness [(15.5 +/- 2.4) vs. (15.9 +/- 2.2) ms, P > 0.05] and satellite potential occurrence rate [(24.3 +/- 12.6)% vs. (22.7 +/- 12.4)%, P > 0.05] were not significantly different between those with OH and those without OH. The rates of dizziness and the percentage of dizziness as the onset symptom were 93.2% and 52.3% in OH group and 44.4% and 8.3% in non-OH group.

CONCLUSIONSASEMG is better than OH in diagnosing patients with dizziness suspected as MSA. Neurogenic lesion can be found by ASEMG in patients without OH, which is helpful in the early diagnosis of MSA.

Adult ; Aged ; Aged, 80 and over ; Anal Canal ; chemistry ; physiopathology ; Dizziness ; physiopathology ; Electromyography ; Female ; Humans ; Hypotension, Orthostatic ; physiopathology ; Male ; Middle Aged ; Multiple System Atrophy ; diagnosis ; physiopathology

OBJECTIVETo assess the significance of single fiber electromyography (SFEMG) in diagnosis of inflammatory myopathies and the correlation with other assistant examination findings.

METHODSSFEMG were recorded from the extensor digitorum communis of 34 patients with polymyositis or dermatomyositis and compared with the findings of routine electromyography (EMG), serum creatine kinase (CK) determination, and muscle biopsy.

RESULTSSFEMG recordings in 34 patients were all abnormal. The prominent feature was markedly increased fiber density (FD) with normally or mildly increased jitter. FD ranged from 1.0 to 6.0 (2.34 +/- 0.43). Jitter ranged from 5 to 78 micros (41.6 +/- 10.3 micros). The potential pairs with jitter values greater than 55 micros ranged from 0% to 55% (7.7% +/- 11.8%). Block was detected at one recording site in only one patient. Routine EMG demonstrated myogenic lesions in only 24 patients (70.6%). FD was a little higher in the normal-EMG subgroup or the neurogenic-EMG subgroup than myogenic-EMG subgroup but without statistical significance. Elevated CK levels were found in 75% patients (24/32). FD in the normal CK subgroup was significantly higher than that in the elevated CK subgroup (2.62 +/- 0.40 vs. 2.28 +/- 0.40, P < 0.05). Muscle pathologies were consistent with the diagnosis of myositis in 75% (15/20).

CONCLUSIONSFEMG is of great value in the diagnosis and disease process understanding of inflammatory myopathies for the clinically suspected patients with normal routine EMG, CK levels, and muscle biopsies.

Adolescent ; Adult ; Aged ; Child ; Creatine Kinase ; blood ; Dermatomyositis ; diagnosis ; pathology ; physiopathology ; Electromyography ; methods ; Female ; Humans ; Male ; Middle Aged ; Muscle Fibers, Skeletal ; pathology ; physiology ; Myocardium ; pathology ; Polymyositis ; diagnosis ; pathology ; physiopathology

OBJECTIVETo observe the effect of intense pulsed light (IPL) on transforming growth factor-beta1 mRNA (TGF-beta1 mRNA) expression in rat skin and explore the molecular mechanisms of photorejuvenation.

METHODSFifteen SD rats were exposed to IPL in 3 dermal regions with triple pulses (duration of 4, 5, and 6 ms) at the energy density of 34 J/cm2 and pulse delay of 20 or 25 ms. On days 1, 3, 5, 7, 15, and 30 after the treatment, skin specimens from the treated and non-treated areas were obtained to detect TGF-beta1 mRNA expression with in situ hybridization.

RESULTSIn the UPL-exposed skin areas, TGF-beta1 mRNA expression was detected in the epidermal keratinocytes and dermal cells 1 day after the exposure, reaching the highest expression level on day 7 followed by gradual decrement since day 15, and till day 30, only weak expression was found in the dermal cells. In the non-exposed regions, the cells remained negative for TGF-beta1 mRNA.

CONCLUSIONIPL can enhance TGF-beta1 mRNA expression in the skin, suggesting that TGF-beta1 plays an important role in dermal remodeling in photorejuvenation.

Animals ; Female ; Male ; Phototherapy ; adverse effects ; methods ; RNA, Messenger ; genetics ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Rejuvenation ; Skin ; metabolism ; radiation effects ; Transforming Growth Factor beta1 ; genetics ; metabolism ; radiation effects

Cerebral Palsy ; metabolism ; Child ; Child, Preschool ; Female ; Gas Chromatography-Mass Spectrometry ; Humans ; Infant ; Infant, Newborn ; Male ; Metabolism, Inborn Errors ; diagnosis ; genetics

BACKGROUNDHirayama disease is a rare disease characterized by juvenile-onset of asymmetric amyotrophy, of which etiology has not been clarified. The aim of our study was to investigate the clinical and neurophysiologic characteristics of Hirayama disease.

METHODSNeurophysiological tests, including nerve conduction studies (NCS), F-wave and routine electromyography (EMG), were performed in seventy-three patients with Hirayama disease. EMG was selectively performed on upper and lower extremities, sternocleidomast and thoracic paravertebral muscles according to the clinical features of the patients.

RESULTSAbnormal NCS parameters, including decreased compound muscle action potentials or delayed distal motor latency, were found in 34.2% (25/73) and 12.3% (9/73) of the patients, respectively. A total of 24.6% (18/73) of the patients showed decreased F-wave frequency. EMG demonstrated the presence of neurogenic lesions in all patients with spontaneous potentials, prolonged duration or augmentation of amplitude in motor unit potentials (MUPs), or a single pattern of MUP recruitment. About 17.8% (13/73) of the patients showed neurogenic lesions, mostly in the C7-8 level of the cervical cord, only in the upper extremity of affected side, whereas 35.6% (26/73) of the patients possessed lesions in the upper extremities bilaterally. A total of 46.6% (34/73) of patients exhibited abnormalities in the lower extremities, sterno- cleidomast or thoracic paravertebral muscle. Changes in motor NCS were significantly correlated with muscle strength.

CONCLUSIONSEMG detects diffused subclinical neurogenic lesion in a high proportion of patients with Hirayama disease. Results of our study challenge the hypothesis that Hirayama disease is a type of cervical myelopathy.

Adolescent ; Adult ; Electromyography ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Neural Conduction ; Spinal Muscular Atrophies of Childhood ; pathology ; physiopathology ; Young Adult

OBJECTIVETo investigate the association of thrombin activatable fibrinolysis inhibitor (TAFI) and its encoding gene CPB2 polymorphism in patients with coronary heart disease (CHD).

METHODSThe CPB2 gene polymorphisms of Thr325Ile and Thr147Ala were analyzed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in patients of acute myocardial infarction (n=100), acute angina pectoris (n=110) and a control group (n=190). The antigen (Ag) and activity (Act) of the TAFI were determined by sandwich enzyme link immunosorbent assay specific for human TAFI and chromogenic assay for activated human TAFI in plasma, respectively. The relationship between Thr325Ile and Thr147Ala gene polymorphism and TAFI Ag and Act were also analyzed.

RESULTSPlasma TAFI Act and TAFI Ag in acute myocardial infarction group and acute angina pectoris group (CHD patients group) were both significantly higher than those of the control group. The genotype frequencies of Thr325Ile (C1040T) and Thr147Ala (G505A) were as the following: C1040C (Thr325Thr) 67 (31.9%) and 64 (33.6%); C1040T (Thr325Ile) 109 (51.9%) and 92 (48.4%); T1040T (Ile325Ile) 34 (16.2%) and 34(17.8%); G505G (Ala147 Ala) 75 (35.7%) and 72 (37.8%); G505A(Thr147Ala) 112 (53.3%) and 96 (50.5%); A505A(Thr147Thr)23 (10.9%) and 22 (11.7%), in the CHD patients and control respectively. Chi-square analysis showed no significant difference in the Thr325Ile and Thr147Ala polymorphism distributions (P > 0.05). In addition, at the 325 position, the TAFI antigen of the Thr325Thr was higher than that of the other genotypes (Thr325Ile and Ile325Ile, P < 0.05). There was no statistical significance between the TAFI antigen of the Thr325Ile and Ile325Ile (P > 0.05). No significant correlation was found between the TAFI Act and the Thr325Ile polymorphism. At the position 147, significant correlation between the polymorphism of the Thr147Ala and TAFI Ag and Act was not found.

CONCLUSIONTAFI plays an important role in anti-fibrinolysis. It might be a risk factor for acute myocardial infarction and acute angina pectoris. The Thr325Ile polymorphism had obvious effect on TAFI antigen levels, but the Thr325Ile and Thr147Ala polymorphism had no association with coronary heart disease.

Amino Acid Substitution ; Carboxypeptidase B2 ; blood ; genetics ; Coronary Disease ; genetics ; Female ; Fibrinolysis ; genetics ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide

BACKGROUNDInvolvement of peripheral nerves in dermatomyositis (DM) and polymyositis (PM) is less well known. In the present study we retrospectively analyzed the clinical and electrophysiological records of hospital inpatients with a diagnosis of DM or PM to investigate the association of DM/PM and peripheral neuropathy.

METHODSThe data of inpatients diagnosed with DM or PM were collected in Peking Union Medical College Hospital, and 186 patients (118 patients with DM and 68 with PM) were retrospectively analyzed. Nerve conduction studies (NCSs) of the median nerve, ulnar nerve, posterior tibial nerve, and common peroneal nerve were examined simultaneously.

RESULTSThere were 71 (38.2%) patients with abnormal NCS findings, 37 (19.9%) with pure motor involvement (decreased compound muscle action potential, CMAP), and 34 (18.3%) with peripheral neuropathy. Of the 34 peripheral neuropathy patients, 14 (7.5%) had polyneuropathy, 1 (0.5%) had multiple mononeuropathy, 16 (8.6%) had carpal tunnel syndrome (CTS), 1 (0.5%) had trigeminal sensory neuropathy, 1 (0.5%) had ulnar sensory neuropathy, and 1 (0.5%) had brachial plexus involvement. The prevalence of malignant disease (3/34, 8.8%), other connective tissue diseases (CTDs) (7/34, 20.6%) and diabetes (6/34, 17.6%) was significantly greater in DM/PM patients with peripheral neuropathy (chi(2) = 15.855, P = 0.000) compared with DM/PM patients without involvement of peripheral nerves (5/115, 4.3% and 7/115, 6.1%, respectively).

CONCLUSIONSPeripheral neuropathy in DM/PM often suggests a complication with cancer, other CTDs, diabetes or CTS. From a practical point of view, NCS for DM/PM may help find the underlying disorders.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Connective Tissue Diseases ; complications ; Dermatomyositis ; complications ; physiopathology ; Female ; Humans ; Male ; Middle Aged ; Neural Conduction ; Peripheral Nervous System Diseases ; etiology ; Polymyositis ; complications ; physiopathology ; Retrospective Studies

BACKGROUNDAmyotrophic lateral sclerosis (ALS) and some mimic disorders, such as distal-type cervical spondylotic amyotrophy (CSA), Hirayama disease (HD), and spinobulbar muscular atrophy (SBMA) may present with intrinsic hand muscle atrophy. This study aimed to investigate different patterns of small hand muscle involvement in ALS and some mimic disorders.

METHODSWe compared the abductor digiti minimi/abductor pollicis brevis (ADM/APB) compound muscle action potential (CMAP) ratios between 200 ALS patients, 95 patients with distal-type CSA, 88 HD patients, 43 SBMA patients, and 150 normal controls.

RESULTSThe ADM/APB CMAP amplitude ratio was significantly higher in the ALS patients (P < 0.001) than that in the normal controls. The ADM/APB CMAP amplitude ratio was significantly reduced in the patients with distal-type CSA (P < 0.001) and the HD patients (P < 0.001) compared with that in the normal controls. The patients with distal-type CSA had significantly lower APB CMAP amplitude than the HD patients (P = 0.004). The ADM/APB CMAP amplitude ratio was significantly lower in the HD patients (P < 0.001) than that in the patients with distal-type CSA. The ADM/APB CMAP amplitude ratio of the SBMA patients was similar to that of the normal controls (P = 0.862). An absent APB CMAP and an abnormally high ADM/APB CMAP amplitude ratio (≥4.5) were observed exclusively in the ALS patients.

CONCLUSIONSThe different patterns of small hand muscle atrophy between the ALS patients and the patients with mimic disorders presumably reflect distinct pathophysiological mechanisms underlying different disorders, and may aid in distinguishing between ALS and mimic disorders.

Action Potentials ; Adult ; Aged ; Amyotrophic Lateral Sclerosis ; pathology ; physiopathology ; Diagnosis, Differential ; Female ; Hand ; pathology ; Humans ; Male ; Middle Aged ; Muscle, Skeletal ; physiopathology ; Muscular Atrophy ; pathology ; physiopathology ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood ; pathology ; Spondylosis ; pathology