Objective To report the clinical and pathological characteristics of one patient with glycogen storage disease Ⅳ (Anderson disease). Methods The patient was received detailed clinical examinations, ultrasound, electromyography, head MRI and muscle biopsy. Results The onset of the 22 years old male patient was 7yrs. The main symptoms were intolerance and fatigue in proximal limbs muscular movement, cardiopalmus by chance. Abdominal ultrasound examinations showed cirrhosis, portal hypertension, splenomegaly. Echocardiogram showed left ventricular myohypertrophia, mild mitral and tricuspid valve insufficiency. Electrophysiology study revealed widespread myogenic changes. Cranial MRI, MRA and MRS were normal. Muscle biopsy showed basophilic intracytoplasmic material in a lot of fibers deposits, which was intensively PAS-positive material and partially resistant to diastase digestion. In the electron microscope, the storage material consisted of filamentous and finely granular material. Conclusions There was the first case of glycogen storage disease Ⅳ reported in our country, mainly involved skeletal muscle, liver, spleen and cardiac muscle.

OBJECTIVETo analysis deacclimatization symptom scores of 159 youth from Karakoram and Tibet Ali area, and provide the basis for the development of relevant prevention and control measures.

METHODSUsing the method of epidemiological symptoms questionnaire, 18 symptoms of 190 youth who returned to the plain area from the different plateau were investigated. The symptom scores of different altitude, age, the time of staying, different units, continuous or intermittent stage and education were surveyed.

RESULTSDeacclimatization symptom scores among 5,000 meter groups were significantly higher than those of 4,300 meter and 3,700 meter group (P < 0.05, P < 0.01). There was no significant difference between the 4,300 meter group and the 3,700 meter group (P > 0.05). There were significant differences among the stayed personnel (different age, position, unit, education, time, continuous or intermittent) (P < 0.01). There was significant difference between the continuous defended the group and intermittent group (P < 0.01).

CONCLUSIONDeacclimatization symptom scores were related to the plateau exposure time, altitude, workload, plateau continued exposure. The older, the longer exposure, the higher altitude, the greater workload at plateau were showed higher deacclimatization symptom score.

Acclimatization ; Altitude ; Altitude Sickness ; physiopathology ; Humans ; Surveys and Questionnaires ; Tibet

Objective To compare the clinical characteristics of multiple sclerosis ( MS) and neuromyelitis optica (NMO) for better diagnosis and differential diagnosis of them. Methods The characteristics of 40 MS and 38 NMO cases were retrospectively studied on clinic manifestations, electroneurophysiology,some laboratory indices, imaging characteristics and so on. Results The ratios of male to female were 1: 1. 35 and 1:4. 43 respectively in patients with MS and NMO, so patients with NMO were more likely to be female as compared with MS ( P < 0. 05 ). The mean onset age was ( 35. 5 ±13. 9 ) years in MS patients and (30. 6 ± 15. 6) years in NMO patients, but no significant difference was found (P>0. 05). The cases of visual acuity ≤0.1 in patients NMO was 13, which of MS was merely 1. The cases of visual acuity less than 0. 5 after treatment in NMO patients was 19, which in MS was only 1. The cases of cognitive impairment in NMO was 3, which of MS was 10. The cases of cerebrospinal fluid oligoclonal bands in MS was 16, which in NMO patients was 9. The lesions of spinal cord shown in MRI of MS patients were typically oval, peripheral and asymmetric, but those in NMO patients extended longitudinally and converged centrally. The mean number of involved vertebral segments in NMO patients was significantly greater than that in MS patients ( 6. 6 vs 2. 2, P < 0. 01). Furthermore, the number of spinal cord lesions in MS patients was alse remarkably greater than that in NMO patients (2. 0vs1.2, P <0. 01). Conclusions NMO may be a distinct clinical entity, which is likely to be differentiated from MS by its tendency to affect women, younger age at onset, and other features clinical manifestations, electroneurophysiology, laboratory parameters, neuroimaging show..

Metastatic epidural compression of the spinal cord is a significant source of morbidity in patients with systemic cancer. With improvment of oncotheray, survival period in the patients is improving and metastatic cord compression is en- countered increasingly often. Surgical management performed for early circumferential decompression for the spinal cord com- pression with spine instability, and spine reconstruction performed. Patients with radiosensitive tumours without spine instabili- ty, radiotherapy is an effective therapy. Spinal stereotactic radiosurgery and minimally invasive techniques, such as vertebro- plasty and kyphoplasty, percutaneous pedicle screw fixation, radiofrequency ablation are promising options for treatment of cer- tain selected patients with spinal metastases.
Decompression, Surgical ; Humans ; Minimally Invasive Surgical Procedures ; Spinal Cord Compression ; therapy ; Spinal Neoplasms ; secondary ; therapy

Hearing Loss ; etiology ; Humans ; Infant ; Infant, Newborn ; Risk Factors

Computed tomography (CT) is considered the most sensitive method for the detection of intraocular foreign bodies (IOFBs).The purpose of this study was to evaluate a new method of 3-dimentional (3D) localization of IOFBs that takes advantage of the anatomical structure of the optic nerve and to assess the clinical outcomes using this new method.Twenty-two trauma patients with IOFBs or suspected IOFBs admitted to our hospital were scanned with multislice CT (MSCT) between July and December 2003.All scanning was performed with a 16-row spiral CT in axial plane using a sequential scanning protocol.During the scanning,the eyeball of the patient was kept stable and was not allowed to rotate internally or externally.Section collimation was set at 16 mm × 0.75 mm.Table feed was 12 mm.Reconstruction index was 0.75 mm.After scanning,the reconstructed images were loaded into a workstation to create the multiplanar reconstruction images with the aid of the 3D software.We compared the localization results with the operative findings.Multiplanar reconstruction images showed IOFBs in all 22 patients.IOFBs occurred in the eyeball of 14 patients,in the wall of the eyeball of 5 patients and in the posterior orbits of 3 patients.Different surgical procedures were designed according to the localization by this new method and all IOFBs were successfully removed.All of these foreign bodies were metallic and the localization of IOFB using MSCT was consistent with that found by operative findings.It was suggested that MSCT is a simple and effective imaging modality for the localization of IOFBs.In our study,we localized the IOFBs more quickly and accurately by taking advantage of the fixed position of the intraocular segment of the optic nerve,and determined the necessary surgical parameters.

Objective To study the prevalence of the mtDNA A1555G gene mutation in Chinese population with nonsyndromic hearing impairment.Methods PCR-RFLP,directional sequencing of PCR products were applied in 325 patients with nonsyndromic hearing impairment and 50 normal controls.Results The mutation rate of the mtDNA A1555G was 14.5% (47/325),28 of 47 cases were homozygosis,19 of 47 cases were heterozygosis.The same mutation was not detected in the control subjects.Conclusion The mutation rate of the mtDNA A1555G is relatively high in the Chinese NSHI patients,the mutation type includes both heterozygosis and homozygosis.

OBJECTIVETo identify the anatomical variability of the left spermatic vein (LSV) and determine its effect on the induction of experimental left varicocele (ELV) in adolescent rats.

METHODSWe equally randomized 30 adolescent male SD rats to groups A (LSV collaterals fully ligated and the left renal vein constricted), B (only the left renal vein constricted), and C (sham operation), observed the courses of the LSVs and measured their diameters. At 30 days after operation, we analyzed the changes in the left kidneys and the diameters of the LSVs.

RESULTSIrregular collaterals were observed in 90% of the LSVs and no abnormal changes were found in the left kidneys after surgery. The postoperative LSV diameter was remarkably increased in group A as compared with the baseline ([1.47 +/- 0.15 ] vs [0.16 +/- 0.08] mm, P < 0.01), but showed no significant difference in group B ([0.31 +/- 0.49] vs [0.15 +/- 0.07] mm, P > 0.05) and C ([0.17 +/- 0.07] vs [0.16 +/- 0.06] mm, P > 0.05), and it was significantly longer in A than in B (P < 0.01). The success rate of ELV induction was 100% in group A and 10% in group B, but no varicocele was observed in group C.

CONCLUSIONCorrect identification of the anatomical course of the LSV and ligation of its irregular collaterals are essential for the establishment of a stable and consistent ELV model.

Animals ; Disease Models, Animal ; Kidney ; pathology ; Ligation ; Male ; Rats ; Rats, Sprague-Dawley ; Spermatic Cord ; blood supply ; Varicocele ; Veins ; abnormalities

Objective To test cross immune responses induced in rhesus monkeys immunized with the recombinant major outer membrane protein(rMOMP).Methods Six rhesus monkeys were divided into three groups:the group vaccinated with purified rMOMP and Freund's adjutants,the group vaccinated with Freund's adjutants only and the control group vaccinated with PBS.All of the rhesus monkeys vaccinated intramuscularly at 0,2,4 weeks.Two weeks after the last time,The IFN-γand Chlamydia-specific antibody titers in sera,which were determined by ELISA,lymphocyte proliferation assay were performed by MTT,and observ the delayed hypersensitivity and in vitro neutralization assays.Results The result of the monkeys immunized with rMOMP and Freund's adjuvant:the specific immune responses can be observed.The in vitro neutralization and lymphocyte proliferation assays were observed better in the same group.Conclusion After being vaccinated with rMOMP,the monkeys can develop strong and effective Chlamydia-specific cross immune responses.

OBJECTIVETo investigate the protective effects of Nourishingyin and Promotingblood flow recipe (NYPBR) on the kidney of diabetic rat.

METHODSD rats were divided into 3 groups at random: control group, diabetes group and NYPBR group. The latter two groups were injected intraperitoneally with streptozotocin to induce diabetes model. Rats in NYPBR group were fed NYPBR solution (3 g x d(-1)), with dose equivalent to the clinical use in the patients. Rats in the other groups were fed equivalent water. 10 weeks after diabetes was induced, the inducible nitric oxide synthase (iNOS) mRNA expression in the renal cortex was detected by RT-PCR, and its protein content by Western blotting. Immunohistochemistry was used to detect the formation of nitrotyrosine (NT), a specific marker of peroxynitrite (ONOO-). The morphological changes of renal cortex were observed under optical microscope. Superoxide dismutase (SOD) and malondialdehyde (MDA) in renal cortex, blood glucose, 24 h urine protein content and creatinine clearance rate in different groups were detected.

RESULTCompared with control group, the iNOS mRNA expression (0.90 +/- 0.10) and its protein content (43.00 +/- 6.08), and NT content (87.23 +/- 5.94) increased significantly in diabetes group, in accord with the pathological changes of renal cortex and renal dysfunction. NYPBR can attenuate the pathological alterations.

CONCLUSIONNYPBR could decrease iNOS mRNA expression and its protein content, and reducing the overformation of ONOO-, thus protecting the kidney of diabetic rat from injury.

Animals ; Blotting, Western ; Diabetes Mellitus, Experimental ; drug therapy ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Immunohistochemistry ; Kidney ; drug effects ; metabolism ; Male ; Malondialdehyde ; Nitric Oxide Synthase Type II ; genetics ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Reverse Transcriptase Polymerase Chain Reaction ; Superoxide Dismutase ; Tyrosine ; analogs & derivatives ; metabolism