Objectives To report clinical,electrophysiological and pathological features of myopathy with tubular aggregates.Methods The onset of the disease was between 5-50 years old in the 6 sporadic male cases.Skeletal muscle biopsy was performed for all cases.Specimens were examined histochemically,enzymhistochemically and electromicroscopically.Results Case 1 and 2 presented with limb girdle myasthenic syndrome.The case 1 developed exercise-induced cramps in the late stage.Case 3 complained about persistent weakness and Dopa-responsive dystonia.Case 4 and 5 were characterized by periodic paralysis.Case 6 showed exercise-induced cramps.Serum potassium was normal in all patients. Slight elevation of serum creatine kinase appeared in 3 cases.Electromyography showed neurogenic pattern in case 1 and 6,myogenic changes in case 4 and 5,and no abnormality in other 2 cases.Marked decrement of active potential amplitude was noted with low frequency repetitive nerve stimuli in case 1 and 2.Four percent to forty percent of muscle fibers showed focal material accumulation in the fibers,which involved mainly type 2 fibers in all cases.The material was stained bright red material with modified gomori trichrome,intensive staining with nicotinamide adenine dinucleotide-tetrazolium reductase,lack activity of succinate dehydrogenase and ATPase.Electron microscopy confirmed bundles of parallel micro-tubular structure in the muscle fiber.Conclusions Myopathy with tubular aggregates has various clinical subtypes and electromyographic pattern.Dystonia or other systemic symptoms could be noted in this disease.The limb girdle myasthenic syndrome can also be accompanied with exercise-induced cramps.

This study was purposed to investigate the effect of highway transportation on the quality of blood components so as to provide experimental basis to meet the needs of military operations. The transport condition was simulated by random vibration test. The red blood cells, leukocyte-reduced red blood cells, washed red blood cells were randomly vibrated (C Road) for 4 hours. Then, these blood components were stored in refrigerator for 15 days (4 degrees C). Six milliliters of blood were collected before vibration, after vibration, and at day 15 days of storage after vibration, respectively. The suspension was isolated. The free hemoglobin (FHb), routine hematological parameters, and biochemical indexes were determined. The results showed that FHb, lactate dehydrogenase (LDH), K(+) of red blood cells and leukocyte-reduced red blood cells did not significantly change after vibration and storage. However, FHb, LDH and K(+) of washed red blood cells increased significantly after simulated transportation (p < 0.05). The levels of these parameters at day 15 of storage after vibration were also significantly higher than those after vibration (p < 0.01). The changes of other hematological parameters were not significant in three blood components after vibration (C Road) and storage for 15 day. In conclusion, red blood cells and leukocyte-reduced red blood cells were qualified for clinic transfusion even after transportation within 4 hours for 15 day storage later, if they were kept in proper blood container and protected from damping. However, the washed red blood cells could not be used for clinic after similar transport in the military operations.
Blood Preservation ; Cryopreservation ; Erythrocytes ; chemistry ; Humans ; L-Lactate Dehydrogenase ; blood ; Transportation ; Vibration

OBJECTIVETo establish the method of recording auditory brainstem responses electrically stimulated via round-window niche in cochlear implants.

METHODSSelf-made platinum iridium alloy as a spherical electrode stimulation electrode, modified cochlear implants connected to in vitro speech processor as a electro-stimulator and evoke potential instrument for Bio-logic Navigator Pro, 17 cochlear implant patients with various ages and of different causes, including auditory neuropathy (2 cases), ossified cochlea (1 case), inner ear malformation (5 cases), leukodystrophy (1 case), unknown and reason (8 cases) were investigated during cochlear implant surgery. Before cochlear implantation, stimulation electrode was placed in the round-window niche while charge balanced biphasic constant current was used as electrical stimulation via round window niche, and then electrically evoked auditory brainstem response was recorded.

RESULTSElectrically evoked auditory brainstem response waveforms were clearly recorded in all 17 cases. The latencies of III and V waves were (2.12 +/- 0.18) ms and (4.18 +/- 0.19) ms respectively, with threshold as (220.0 +/- 16.04) CL. The waveforms of the 2 patients with auditory neuropathy, 5 patients with inner ear malformation, 1 patient with ossified cochlea and 1 patient with leukodystrophy were well differentiated.

CONCLUSIONSMonitoring electrically evoked auditory brainstem response was an objective nerve electrophysiological testing method that accurately reflects function completeness of auditory pathway. It had important value for helping making the judgment whether patients could acquire auditory response after cochlear implantation. This method was safe and gave high emission of auditory response, therefore should be spread widely.

Child ; Child, Preschool ; Cochlear Implantation ; Cochlear Implants ; Electric Stimulation ; Electrodes ; Evoked Potentials, Auditory, Brain Stem ; physiology ; Female ; Humans ; Infant ; Male ; Round Window, Ear ; physiology ; Vestibulocochlear Nerve Diseases ; physiopathology

The aim of this study was to investigate the anti-proliferation and pro-apoptosis of triptolide on Jurkat cell line in acute T lymphocytic leukemia. The Jurkat cells were treated with various concentrations of triptolide (0, 1, 2, 4, 8, 16 microg/L) for 12 hours. The inhibitory ratio was measured by Cell Counting Kit-8 assay. The effects of triptolide on apoptosis of Jurkat cells were determined by DNA fragmentation (DNA ladder), Hoechst 33258, PI and Annexin V-FITC/PI double staining. The results demonstrated that triptolide inhibited the proliferation of Jurket cells. The 50% inhibitory concentration (IC(50)) was 4.0 microg/L. Chromatin condensation in the cells treated with triptolide could be seen by light microscopy. DNA electrophoresis showed evidence of nuclear fragmentation (DNA ladder). The hypoploid (sub-G(1)) population was increased after treatment with triptolide. The translocation of phosphatidylserine at the outer surface of the cell plasma membrane could be induced by triptolide. After treatment with triptolide for 12 hours, the rates of apoptotic cells were significantly increased. Moreover, these pro-apoptosis effects were in time-dependent manner. It is concluded that triptolide can inhibit the proliferation and induce the apoptosis of Jurkat cells. This study provides experimental basis for clinical use of triptolide in leukemia therapy.
Antineoplastic Agents, Alkylating ; pharmacology ; Apoptosis ; drug effects ; Cell Proliferation ; drug effects ; Diterpenes ; pharmacology ; Epoxy Compounds ; pharmacology ; Humans ; Jurkat Cells ; Phenanthrenes ; pharmacology

Objective:To analyze the relationship between hyperphosphatemia and steroid-sensitive nephrotic syndrome(SSNS)in children.Methods:A retrospective study was carried out in 61 children with SSNS at Department of Paediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University from January 2017 to December 2018.The changes of serum phosphorus levels during the active and remission stages were observed, and the correlation between serum phosphorus level and serum albumin, blood lipid, renal function, blood calcium, blood phosphorus, urine protein and other indicators were analyzed.Results:Serum phosphorus level of 61 children with SSNS was 1.79(1.65-1.91)mmol/L in the active phase of the disease, of which 33 patients(54.1%)had hyperphosphatemia, while serum phosphorus level was 1.64(1.46-1.79)mmol/L after the complete remission, and 15(24.6%)patients had hyperphosphatemia.Serum phosphorus level was positively correlated with ratio of urine protein/creatinine, serum lipoprotein A and calcium-phosphorus product( r=0.239, P<0.05; r=0.188, P<0.05; r=0.623, P<0.05), and negatively correlated with levels of serum albumin and serum calcium( r=-0.201, P<0.05; r=-0.195, P<0.05). Conclusion:The morbidity of hyperphosphatemia in children with SSNS is quite high during the active stage of the disease.The disorder of blood phosphorus significantly improve with remission of the disease.

OBJECTIVE: To investigate the clinical efficacy of haploid hematopoietic stem cells (haplo-HSC) combined with third-party umbilical cord blood (tpCB) transplantation in the treatment of X-linked chronic granulomatous disease (X-CGD). METHODS: The clinical data of 26 boys with X-CGD were retrospectively analyzed who were admitted to the Sixth Medical Center of PLA General Hospital between April 2014 and March 2018. All the patients were treated with haplo-HSC combined with tpCB transplantation. The median age of the patients was 3.5 years. The donor was the father in 25 cases and an aunt in 1 case. Transplantation was 5/6 HLA-matched in 9 cases, 4/6 in 12 cases, and 3/6 in 5 cases. The patients received busulfan, cyclophosphamide, fludarabine, or anti-thymocyte globulin for myeloablative preconditioning. Cyclosporine A and mycophenolate mofetil were used for prevention of acute graft-versus-host disease (aGVHD). Then the patients were treated with haploid bone marrow hematopoietic stem cells combined with tpCB transplantation on day 1 and haploid peripheral hematopoietic stem cells on day 2. The counts of median donor total nucleated cells, CD34 cells, and CD3 cells were 14.6×10/kg, 5.86×10/kg, and 2.13×10/kg respectively. RESULTS: The median time to neutrophil and platelet engraftment was 12 and 23 days after transplantation respectively. Full donor hematopoietic chimerism was observed on day 30. Twenty-five cases were from haplo-HSC and 1 was from cord blood. No primary implant failure and implant dysfunction occurred, and secondary implant failure occurred in one case. The NADPH oxidase activity returned to normal one month after transplantation. The incidence of grade I-II aGVHD and grade III-IV aGVHD was 35% and 15% respectively. Chronic GVHD (cGVHD) of the skin occurred in one case, and no progression was observed after steroid administration. During the follow-up period of 6-51 months, 25 patients survived, of whom 24 were disease-free (23 patients without cGVHD and 1 with cGVHD of the skin) and NADPH oxidase activity returned to normal; one patient developed secondary implant failure but survived; one patient died of viral interstitial pneumonia 16 months after transplantation. The 5-year event-free survival rate and overall survival rate were 81%±12% and 89%±10% respectively. CONCLUSIONS Haplo-HSC combined with tpCB transplantation is one of the effective methods for the treatment of X-CGD in children.
Child, Preschool ; Cord Blood Stem Cell Transplantation ; Graft vs Host Disease ; Granulomatous Disease, Chronic ; Haploidy ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Male ; Retrospective Studies ; Transplantation Conditioning

OBJECTIVE: To explore the technical details and short-term effects of radiofrequency obliteration of varicose veins of lower extremities guided by combined venography and ultrasound. METHODS: Thirty-seven patients with varicose veins of lower extremities were treated with radiofrequency obliteration using Olympus Celon RFiTT^® under combined guidance of venography and ultrasound. The indications included varicose veins of lower extremities and reflux of the great saphenous vein confirmed by ultrasound. The contraindications included deep vein thrombosis, cardiac pacemaker, severe cardio- and cerebrovascular diseases or coagulation disorders. Under ultrasound guidance, the saphenous vein around knee level was punctured using a 21G needle, and a 7F sheath was introduced. Through the sheath a venography was made, and an Olympus Celon ProCurve radiofrequency catheter was inserted and advanced to the great saphenous vein under road map, and the catheter tip was positioned at the point 2 cm below the sapheno-femoral junction. The swelling anesthesia was made under ultrasound guidance. Then the radiofrequency obliteration was performed with pressing of the treatment section. The venography was repeated to ensure optimal outcomes. If necessary the radiofrequency obliteration could be repeated once to twice. After that the superficial varicose veins were stripping by small incisions under local anesthesia. After operation, medical decompression stocking was utilized immediately and sustained for three months. The clinical data, intraoperative radiation dose, exposure time and short-term effects were retrospectively analyzed. RESULTS: After the operation, all the patients walked out of the operating room by themselves. The success rate of operation was 100%. The intraoperative radiation dose was 1.78-10.12 mGy (mean 6.56 mGy), and the exposure time was 61-448 s (mean 161 s). By 3 months follow-up, the symptoms were alleviated in all the 37 patients, and the occlusion rate was 100%. No complications such as skin burns, ecchymosis and deep venous thrombosis were found. CONCLUSION The short-term effects of radiofrequency obliteration using Olympus Celon RFiTT^® system in a manner of twice fixed point followed by once reciprocating radiofrequency were satisfactory. Radiofrequency obliteration of great saphenous veins guided by venography and ultrasound has not only the advantages of minimal trauma and rapid recovery, but also the advantages of accurate location, exact effect and avoidance of complications.
Catheter Ablation ; Humans ; Lower Extremity/diagnostic imaging* ; Phlebography ; Retrospective Studies ; Treatment Outcome ; Ultrasonography ; Varicose Veins/surgery*

OBJECTIVE: To study the effect of human oligodendrocyte precursor cell (hOPC) transplantation in the treatment of white matter injury (WMI). METHODS: Neonatal rats were randomly divided into a sham-operation group, a model group, and a transplantation group ( RESULTS: The place navigation test using the Morris water maze showed that the model group had a significantly longer escape latency than the sham-operation group, and compared with the model group, the transplantation group had a significant reduction in escape latency ( CONCLUSIONS Intrathecal hOPC transplantation may alleviate neurological injury and promote remyelination in a rat model of WMI.
Animals ; Animals, Newborn ; Humans ; Myelin Sheath ; Oligodendrocyte Precursor Cells ; Oligodendroglia ; Rats ; White Matter

AIM: To study the distribution of CYP2C9∗3 and VKORC1-1639G>A gene polymorphism in Han population in Anhui province and their influence on the stable dose of warfarin. METHODS: The blood samples of 1 169 patients from 6 tertiary general hospitals in 5 areas of Anhui province from January 2020 to December 2021 were selected, the genotype of CYP2C9∗3 and VKORC1-1639G>A was detected by fluorescent staining in situ hybridization technique. RESULTS: The distribution of CYP2C9∗3 genotypes in 1 169 patients: the frequencies of AA, AC and CC genes were 90.16%, 9.24% and 0.60%, respectively; The distribution of VKORC1 genotype: the frequencies of AA, AG and GG genes were 84.26%, 14.71% and 1.03% respectively; There was no significant difference between the two genotypes in gender, age and regional distribution (P>0.05). The average daily warfarin dose of CYP2C9∗3 AA genotype in 755 patients with stable warfarin dose was (3.02±0.59) mg/d, which was significantly higher than patients with AC genotype and CC genotype; The average daily warfarin dose of patients with VKORC1-1639AA genotype was (2.72±0.40) mg/d, which was significantly lower than that of patients with AG genotype and GG genotype (P<0.05). And the difference was statistically significant (P<0.05); There are significant differences in gender, age and clinical diagnosis between patients with stable dose of warfarin and those without stable dose (P<0.05). CONCLUSION: CYP2C9 and VKORC1 genotypes are associated with the stable dose of warfarin. Clinical anticoagulation therapy guided by CYP2C9 and VKORC1 genotypes can provide guidance for individualized medication of warfarin.

BACKGROUNDBalanced adjustment of the portal vein shunt volume during a transjugular intrahepatic portosystemic shunt (TIPS) is critical for maintaining liver perfusion and decreasing the incidence of liver insufficiency. A stent-graft is proved to be superior to a bare metal stent (BMS) for the construction of a TIPS. However, the clinical results of the combination application of stents and stent-grafts have not been determined. This study aimed to compare the technique of using a combination of stents and stent-grafts with using a single stent-graft to construct a TIPS.

METHODSFrom April 2011 to November 2014, a total of fifty patients were randomly assigned to a stents-combination group (Group I, n = 28) or a stent-graft group (Group II, n = 22). Primary patency rates were calculated. Clinical data, including the technical success rate, bleeding control results, incidence of encephalopathy, liver function preservation, and survival rate, were assessed.

RESULTSTechnically, the success rate was 100% for both groups. The primary patency rates at 1, 2, and 3 years for Group I were 96%, 84%, and 77%, respectively; for Group II, they were 90%, 90%, and 78%, respectively. The survival rates at 1, 2, and 3 years for Group I were 79%, 74%, and 68%, respectively; for Group II, they were 82%, 82%, and 74%, respectively. The incidence of hepatic encephalopathy was 14.3% for Group I and 13.6% for Group II. The Child-Pugh score in Group I was stable at the end of the follow-up but had significantly increased in Group II (t = -2.474, P = 0.022).

CONCLUSIONSThe construction of a TIPS with either the single stent-graft or BMS/stent-graft combination is effective for controlling variceal bleeding. The BMS/stent-graft combination technique is superior to the stent-graft technique in terms of hepatic function preservation indicated by the Child-Pugh score. However, considering the clinical results of the TIPS, the two techniques are comparable in their primary shunt patency, incidence of encephalopathy and patient survival during the long-term follow-up.

Aged ; Female ; Hepatic Encephalopathy ; diagnosis ; etiology ; Humans ; Hypertension, Portal ; complications ; mortality ; surgery ; Male ; Middle Aged ; Polytetrafluoroethylene ; Portal Vein ; surgery ; Portasystemic Shunt, Transjugular Intrahepatic ; adverse effects ; methods ; Postoperative Complications ; Prospective Studies ; Stents ; Treatment Outcome