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Scoliosis is characterized by one or several segments of the spine bending sideways, accompanied by vertebral rotation and sagittal imbalance with complex etiology. Scoliosis can be caused by congenital vertebral abnormalities, asymmetry of the paraspinal muscles due to neurological lesions, and malnutrition or metabolic disorders of bone tissue. Growth hormone is a peptide hormone that plays a key role in promoting human growth and development, especially in bone growth. When the secretion of growth hormone in children or adolescents in the rapid growth stage is insufficient, it may lead to the occurrence of idiopathic short stature (ISS) and growth hormone deficiency (GHD). In clinic, ISS and GHD are mainly treated by recombinant human growth hormone (rhGH). According to some early clinical reports, in the process of rhGH treatment, many patients occur scoliosis or the original scoliosis progression is aggravated. Therefore, many scholars conclude that rhGH treatment of ISS or GHD will lead to the occurrence or development of scoliosis. However, with the increase of clinical statistics and the further progress of research, many scholars found that rhGH treatment of ISS or GHD will only increase the Cobb angle of patients with scoliosis, but will not lead to the occurrence of scoliosis, that is, rhGH treatment of ISS or GHD will not increase the prevalence of scoliosis. At present, whether rhGH treatment of ISS and GHD can lead to scoliosis and aggravation of scoliosis remains controversial. Therefore, this paper summarizes and analyzes the correlation research on the risk of scoliosis complications in children treated with rhGH, and concludes that age, gender, body mass index, and growth potential are risk factors for the development or progression of scoliosis during treatment, and discusses the balance of advantages and disadvantages of using rhGH for ISS or GHD to provide a direction for future clinical guidance.
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Objective:To investigate the clinical features and prognosis of acute necrotizing encephalopathy (ANE) in children.Methods:The clinical data and follow-up information of 41 pediatric patients with ANE treated in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from January 2014 to September 2019 were retrospectively reviewed.Results:The 41 patients included 23 males and 18 females with the onset age of (4.4±3.2) years.The main prodromal symptoms were gastrointestinal (20/41 cases, 48.8%) and respiratory infections (19/41 cases, 46.3%). Acute encephalopathy progressed rapidly following the prodromal infection [29 cases (70.7%) ≤2 days], and patients had clinical manifestations of coma (32/41 cases, 78.0%), convulsion (32/41 cases, 78.0%), multiple organ dysfunction (27/41 cases, 65.9%), shock and disseminated intravascular coagulation were rarely occured, and 28 cases (68.3%) were admitted to intensive care unit for treatment.Brain magnetic resonance imaging (MRI) showed lesion involving thalamus (41/41 cases, 100.0%), periventricular white matter (34/41 cases, 82.9%), brainstem (31/41 cases, 75.6%), basal ganglia (26/41 cases, 63.4%), cerebral cortex and subcortex (20/41 cases, 48.8%) and cerebellum (18/41 cases, 43.9%). The common presentations on the apparent diffusion coefficient mapping of brain MRI were " tricolor pattern" or " bicolor pattern" of the thalamus.During follow-up (≥ 6 months), MRI showed that hemorrhage, cystic degeneration and atrophy changed dynamically with the progression of ANE.All cases were treated with glucocorticoids, 38 cases(92.7%) with intravenous immune globulin.Seven cases (17.1%) were died and the 34 survivors had different degrees of neurological dysfunction.Conclusions:ANE in children is a distinctive type of clinicoradiologic syndrome with rapid progression and various presentations.Brain MRI has typical imaging characteristics and dynamically indicates the progression of this disease.The treatment options are still limited, the prognosis is poor and the survivors are often with neurological dysfunction.
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Objective@#To evaluate the success rate during ultrasound-guided percutaneous nephrolithotomy (PCNL) and analyze the reasons of puncture failure.@*Methods@#A retrospective analysis was performed based on the data of 58 patients who underwent ultrasound-guided PCNL by 4 experienced urologists(10 years' experience of PCNL and more than 80 cases per year)in our center from August 2018 to November 2018. Of all the 58 patients, there were 36 males and 22 females (aged from 22 to 73 years) with the mean age of 51 years. The calculi ranged from 9 mm to 93 mm, with the average of 26.5 mm. The separation of renal collecting system ranged from 5 mm to 30 mm, with the average of 15.1 mm. All of the 58 patients underwent one-stage PCNL and the numbers of punctures, the numbers of percutaneous tubes and the reasons for failure were recorded.@*Results@#All percutaneous tubes and surgeries were established and done successfully. Of all the 118 punctures, 74 punctures succeeded by detecting the urine and 68 surgery tracts were established (6 punctures failed because of the dilation). The total puncture success rate was 62.7%(74/118). Of the total 74 successful punctures, 56.8%(42/74)succeeded at the first puncture, 28.4%(21/74)succeeded at the second puncture and 14.9%(11/74)succeeded at least after three punctures. The success puncture rate of the 4 urologists were 59.2%(29/49), 64.1%(25/39), 66.7%(16/24), 66.7%(4/6)respectively, and there were no statistical differences between the puncture success rates of the urologists (P=0.679). Each channel needed 1.7 punctures on average. Fouty-four punctures failed without detecting the urine, including 20 failed punctures because of the puncture tract deviation, 17 punctures without seeing the urine after the core needle being removed, 7 punctures no display on the ultrasound imagine. There were 33 punctures to be tubeless while other 35 indwelling the nephrostomy tubes. Five nephrostomy tubes' position were different with the preoperationally predicted position which means the discrepancy rate was 14.3%(5/35). One patient had complications and classified as Grade II or above on the modified Clavien Grading System of aerothorax.@*Conclusions@#The puncture success rate during ultrasound-guided PCNL is not satisfied. The main reasons of puncture failure are the deviation of puncture tract, unclear imaging of puncture tract and other unclear reasons( puncture needle went too deep or superficially or tip of the needle embedded into the stone).
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Objective@#To observe the efficacy and safety of intensive cladribine-based conditioning regimen for allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with major thalassemia.@*Methods@#Retrospective analysis was performed for the clinical data of 12 children with major thalassemia undergoing allo-HSCT from March 2017 to July 2018. All of them were diagnosed definitely and the median age at transplantation was 5 years (range: 2-13 years), including HSCT from HLA-matched unrelated donor (n=8), HLA8/10-matched unrelated donor (n=1), HLA-matched sibing donor (n=2) and haploidentical donor (n=1). They received a new intensive conditioning regimen of cyclophosphamide (CTX), cladribine, busulfan (Bu) and antithymocytic globulin. The median doses of mononuclear cell (MNC) and CD34 positive cell were 10.97×108/kg (range: 5.72-12.49×108/kg) and 12.2×106/kg (range: 6.7-22×106/kg). Graft-versus-host disease (GVHD) was prevented by cyclosporine A (CSA), methotrexate (MTX) and mycophenolate mofetil (MMF).@*Results@#Engraftment succeeded (n=11) and failed (n=1). The median time of neutrophil and platelet engraftment was 11 days (range: 8-17 days) and 13 days (range: 8-37 days) respectively. There were grade II acute GVHD (n=6) and grade IV intestinal acute GVHD (n=1) at 35 days post-transplantation. The latter one finally died of severe infection at 70 days post-transplantation. Two recipients of DLI developed limited chronic GVHD. Three cases (25%) developed cytomegaloviremia. None suffered from severe transplantation-related complications, such as cytomegalovirus diseases, hepatic veno-occlusive disease (HVOD), hemorrhagic cystitis or septicemia, etc. The median follow-up time was 15(8-18) months. Among 11 survivors, ten became transfusion-independent.@*Conclusions@#Cladribine-based conditioning regimen is both safe and effective for allo-HSCT in children with major thalassemia. However, vigorous immunosuppression may increase the risks of infection and viral activation after transplantation.
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Objective To observe the efficacy and safety of intensive cladribine-based conditioning regimen for allogeneic hematopoietic stem cell transplantation (allo-HSCT ) in children with major thalassemia .Methods Retrospective analysis was performed for the clinical data of 12 children with major thalassemia undergoing allo-HSCT from March 2017 to July 2018 .All of them were diagnosed definitely and the median age at transplantation was 5 years (range:2-13 years ) , including HSCT from HLA-matched unrelated donor (n= 8 ) , HLA8/10-matched unrelated donor (n=1) ,HLA-matched sibing donor (n=2) and haploidentical donor (n=1) .They received a new intensive conditioning regimen of cyclophosphamide (CTX ) , cladribine , busulfan (Bu ) and antithymocytic globulin .The median doses of mononuclear cell (MNC) and CD34 positive cell were 10 .97 × 108/kg (range:5 .72-12 .49 × 108/kg) and 12 .2 × 106/kg (range:6 .7-22 × 106/kg) .Graft-versus-host disease (GVHD) was prevented by cyclosporine A (CSA) ,methotrexate (MTX) and mycophenolate mofetil (MMF) .Results Engraftment succeeded (n= 11) and failed (n= 1) .The median time of neutrophil and platelet engraftment was 11 days (range:8-17 days) and 13 days (range:8-37 days) respectively .There were grade II acute GVHD (n= 6) and grade IV intestinal acute GVHD (n=1) at 35 days post-transplantation .The latter one finally died of severe infection at 70 days post-transplantation .Two recipients of DLI developed limited chronic GVHD .Three cases ( 25％ ) developed cytomegaloviremia . None suffered from severe transplantation-related complications , such as cytomegalovirus diseases , hepatic veno-occlusive disease ( HVOD ) , hemorrhagic cystitis or septicemia ,etc .The median follow-up time was 15(8-18) months .Among 11 survivors ,ten became transfusion-independent .Conclusions Cladribine-based conditioning regimen is both safe and effective for allo-HSCT in children with major thalassemia . However , vigorous immunosuppression may increase the risks of infection and viral activation after transplantation .
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Objective To evaluate the success rate during ultrasound-guided percutaneous nephrolithotomy (PCNL) and analyze the reasons of puncture failure.Methods A retrospective analysis was performed based on the data of 58 patients who underwent ultrasound-guided PCNL by 4 experienced urologists(10 years'experience of PCNL and more than 80 cases per year)in our center from August 2018 to November 2018.Of all the 58 patients,there were 36 males and 22 females (aged from 22 to 73 years) with the mean age of 51 years.The calculi ranged from 9 mm to 93 mm,with the average of 26.5 mm.The separation of renal collecting system ranged from 5 mm to 30 mm,with the average of 15.1 mm.All of the 58 patients underwent one-stage PCNL and the numbers of punctures,the numbers of percutaneous tubes and the reasons for failure were recorded.Results All percutaneous tubes and surgeries were established and done successfully.Of all the 118 punctures,74 punctures succeeded by detecting the urine and 68 surgery tracts were established (6 punctures failed because of the dilation).The total puncture success rate was 62.7％ (74/118).Of the total 74 successful punctures,56.8％ (42/74) succeeded at the first puncture,28.4％ (21/74)succeeded at the second puncture and 14.9％ (11/74)succeeded at least after three punctures.The success puncture rate of the 4 urologists were 59.2％ (29/49),64.1％ (25/39),66.7％ (16/24),66.7％ (4/6)respectively,and there were no statistical differences between the puncture success rates of the urologists (P =0.679).Each channel needed 1.7 punctures on average.Fouty-four punctures failed without detecting the urine,including 20 failed punctures because of the puncture tract deviation,17 punctures without seeing the urine after the core needle being removed,7 punctures no display on the ultrasound imagine.There were 33 punctures to be tubeless while other 35 indwelling the nephrostomy tubes.Five nephrostomy tubes'position were different with the preoperationally predicted position which means the discrepancy rate was 14.3％ (5/35).One patient had complications and classified as Grade Ⅱ or above on the modified Clavien Grading System of aerothorax.Conclusions The puncture success rate during ultrasound-guided PCNL is not satisfied.The main reasons of puncture failure are the deviation of puncture tract,unclear imaging of puncture tract and other unclear reasons (puncture needle went too deep or superficially or tip of the needle embedded into the stone).
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Objective To observe the efficacy and safety of reduced-intensity conditioning regimen used in allogeneic hematopoietic stem cell transplantation (HSCT) for children with β-thalassemia major.Methods We retrospectively analyzed the clinical data of 15 children with β-thalassemia major undergoing allogeneic HSCT with a reduced-intensity conditioning regimen from March 2013 to March 2017.Fifteen patients were diagnosed definitely,and the median age at transplantation was 5 years (range:3-6 years),including 11 with HSCT from unrelated donors (UDs),3 of HLA 8/10 matched and 8 of HLA10/10 matched.The remaining 4 patients out of 15 with HSCT were from related donors with HLA matched,3 donors were siblings and 1 was mother.All patients used a reduced-intensity conditioning regimen.The median mononuclear cell (MNC) dose and CD34 positive cell dose were 11.4 × 108/kg (range:4.8-20 × 108/kg)and 9.8 × 106/kg (range:5.9-27.2 × 106/kg),respectively.Graft-versus-host disease (GVHD) was prevented by cyclosporine A,methotrexate,MMF and ATGf.Results All 15 patients had successful engraftment.Median time to neutrophil and platelet engraftment was 12 days (range:9-21 days) and 15 days (range:10-25 days) respectively.Two patients developed grades Ⅱ acute GVHD and 4 patients developed chronic GVHD from unrelated donors,while there was no acute GVHD and 1 patient developed chronic GVHD from related donors.No patients suffered from serious transplantation-related complications,such as hepatic veno-occlusive disease (VOD),hemorrhagic cystitis,EB virus reactivation,CMV reactivation and hepatitis C,etc.The median follow-up time was 24 months (range:2-48 months).All patients were healthy and became transfusion-independent.Conclusion The reduced-intensity conditioning regimen proved to be safe and effective for children with β-thalassemia major given allogeneic HSCT.
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Objective To discuss primary experience the clinical use of "All-seeing needle set" combined with Holmium laser to treat the single renal stone lesser than 2 cm in diameter through a super minimal tract (F12).Methods From January 2015 to December 2016,43 patients were enrolled into this retrospective study.There were 23 males and 20 females who were diagnosed as single renal stone less than 2 cm in diameter(age range from 23-65 years).There were 8 upper pole renal stones,13 lower pole renal stones and 22 renal pelvis stones.The mean stone size was (1.63 ± 0.32) cm in diameter (range from 1.2 cm to 2.0 cm)."All-seeing needle system" was applied during percutaneous puncture.After building a F12 minimal tract by fascia dilator,all patients received lithotripsy with Holmium laser.Indwelling catheters for 3 days and an F6 double-J tube was left for 2 weeks without a tube in the percutaneous tract after operation.Finally,KUB and/or urinary CT were used to check the results on day 1.Result All operations were completed successfully.The operation time was 23-65min [averaged (31.0 ±9.2) min].41 cases' renal stones were store free,and the 2 stone residues was clear with later extracorporeal shock wave lithotripsy.No severe complications occurred.Conclusion As an alternative to standard procedures for treatment of renal stones less than 2 cm in diameter,adopting "All-seeing needle set" with Holmium laser through a super minimal tract (F12) is safe,minimally invasive,fast and effective with a low complication rate.
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Objective To investigate the clinical and imaging features of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children with mycoplasmmapneumonia infection.Methods The clinical data of 15 children with MERS diagnosed in our hospital were analyzed retrospectively.Results Among the 15 cases,there were 5 males and 10 females.The onset age ranged from 2 years old to 11 years old.All the 15 cases were onset of acute infection.8 cases were onset of vomiting,diarrhea and other gastrointestinal symptoms.2 cases were onset of respiratory tract infection such as cough.8 cases were accompanied by fever.15 cases were accompanied by convulsions.2 cases were onset of consciousness disturbance.All 15 children underwent lumbar puncture and routine cerebrospinal fluid tests were in normal range.Electroencephalogram examination was abnormal in 13 children,showing slow activity in each lead.The cranial MRI examination of the onset of 4-6 d suggested that the lesions of the corpus callosum were characterized by high signal intensity of DWI sequence.Etiological examination of 15 children showed mycoplasma pneumoniae (MP)-IgM or-Ab positive.In 10 children,the MRI of the corpus callosum was completely restored to normal after 7-12 d.15 children were treated with anti-infection and azithromycin orally,but not with propofol or hormone.They were discharged after 4-14 days of hospitalization.All 10 children were reexamined with MRI at 7-12 days intervals.Conclusions Minor encephalitis/encephalopathy associated with reversible corpus callosum pressure in children with mycoplasma pneumoniae infection is characterized by mild encephalitis or encephalopathy.The imaging of the corpus callosum is reversible and has a good prognosis.
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Objective To study the clinical phenotype and prognosis of children diagnosed with early-onset epileptic encephalopathy (EOEE) and pachygyria-lissencephaly,and to explore the potential genetic factors.Methods The clinical data of 65 children between December 2005 and December 2016 was obtained and analyzed.And the whole exome sequencing was analyzed by using second generation sequencing technology.Results Among 65 children,17 cases (26.1％) were diagnosed as lissencephaly,34 cases (52.3 ％) were pachygyria,and 14 cases (62.6％)were pachygyria with lissencephaly.Thirteen cases (20.0％) were infantile spasms,9 cases (13.8％) were ohtahara syndrome,3 cases (4.6％) were early myoclonic epileptic encephalopathy,and 40 cases (61.6％) were non-symptomatic EOEE.Six cases (6/65 cases,9.2％) were associated with dyskinesia,of whom 3 cases showed dystonia,2 cases of limb tremor,1 case of dancing-like movements.Electroencephalophalogram (EEG) showed serious multifocal discharge,40 cases had massive multifocal discharge.Brain images showed that simple pachygyria was more common (34/65 cases,52.3 ％).Among them,focal pachygyria was more common (25/34 cases,73.5 ％),mostly involving in the frontoparietal lobe (11/25 cases,44.0％).Copy number variations and whole exon sequencing were performed on 61 patients.Copy number variation was detected in 1 patient.There were 2 cases of lissencephaly-1/platelet-activating factor acetylhydrolase isoform 1B (LIS1/PAFAH1B1) mutation,1 case of syntaxin-blinding protein 1 (STXBP1)mutation,1 case of Aristaless-related homeobox (ARX) mutation,and 1 case of dynein cytoplasmic 1 heavy chain 1(DYNC1H1) mutation.The follow-up time varied from 1 year to 8 years [(3.5 ± 1.4) years],in which 20 cases had clinical seizures under control but 45 cases out of control.Conclusion Infantile spasms and non-syndromic EOEEare more common in children diagnosed with EOEE and pachygyria-lissencephaly.A small number of cases have dyskinesia.EEG shows serious abnormalities,mostly multifocal discharge.Brain images show simple pachygyria is more common,mostly involving in the frontoparietal lobe.Common gene mutations are LIS1/PAFAH1B1,STXBP1,ARX.Gene mutations can lead to both clinical manifestations of cortical deformity and EOEE,and genetic factors play an important role in children with brain developmental deformity and epilepsy.
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Objective To investigate the clinical efficacy and safety of oral high-dose methylprednisolone in the treatment of infantile spasms (IS).Methods The clinical data of 38 children with infantile spasms were analyzed retrospectively who treated with oral administration of high-dose methylprednisone in Department of Neurology,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science and Technology from January 2016 to April 2017.Results (1) Twenty patients (52.6％) of all the 38 patients were seizure-free after 2 weeks of treatment,and 16 cases (42.1％) were seizure-free at the end of treatment.(2) All the 38 cases were typical or atypical hyperarrhythmia.After treatment of 2 weeks,25 cases (65.8％) of hyperarrhythmia disappeared;at the end of the treatment,30 cases (78.9％) of hyperarrhythmia disappeared.(3) Adverse effects mainly were weight gain,Cushing signs,increased appetite,irritability,drowsiness,co-infection,electrolyte disturbance.(4) Follow-up of 3 to 12 months,the recurrence rate was low and the development quotient had improved.Conclusions Oral high dose methylprednisolone in the treatment of IS is effective,safe and has a low recurrence rate.It can be recommended in clinicalal application.
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Objective To explore the effectiveness and compliance of ketogenic-diet(KD) treatment for infantile spasm(IS).Methods Ninety-eight IS patients who were treated with KD in Wuhan Children's Hospital from March 2009 to June 2015 were analyzed by using retrospective case-control study,the patients were divided into 4 groups:newly diagnosed IS patients group (group A,including 24 patients),one antiepileptic drug (AEDs) failure IS patients (group B,including 28 patients),two and more AEDs failure IS patients (group C,including 29 patients),and two or more AEDs combined with ACTH failure IS patients(group D,including 17 patients).The spasm-free andretention rates after 3,6 and 12 months KD treatment were compared among these groups.Results Overall retention rate was 80.6％ (79/98 cases),69.4％ (68/98 cases),and 42.9％ (42/98 cases)at 3,6,12 months,respectively.The 3-month retention rate in group A,B,C and D was 83.3 ％ (20/24 cases),78.6％ (22/28 cases),82.7％ (24/29 cases) and 76.4％ (13/17 cases) respectively,and there was no significant difference among these groups (P ＞ 0.05).The 6-month retention rates in each group was 75.0％ (18/24 cases),67.9％ (19/28 cases),68.8％ (20/29 cases) and 65.0％ (11/17 cases) in sequence,and there was also no significant difference among these groups(P ＞0.05).The 12-month retention rate was 54.2％ (13/24 cases),21.4％ (6/28 cases),48.3％ (14/29 cases) and 52.9％ (9/17 cases) in group A,B,C and D in sequence,the 12-month retention rate of group B was significantly lower than that of other 3 groups,and the differences were statistically significant(x2 =5.973,4.508,4.727,all P ＜ 0.05),and there was no significant difference among the A,C,D groups (all P ＞ 0.05).The spasm-free rate at 3,6,12 months of KD treatment was 19.4％ (19/98 cases),20.4％ (20/98 cases),30.6％ (30/98 cases).The 3-month spasm-free rate in A,B,C,D groups were as follow:41.7％ (10/24 cases),14.3％ (4/28 cases),10.3％ (3/29 cases),11.8％ (2/17 cases),respectively.The 3-month spasm-free rate in group A was significantly higher than that of other 3 groups,and the differences were statistically significant (x2 =10.238,9.219,6.697,all P ＜ 0.05),but there was no significant difference among the B,C,D groups (all P ＞ 0.05).The 6-month spasm-free rates were 41.7％ (10/24 cases),14.3％ (4/28 cases),13.8％ (4/29 cases),and 11.8％ (2/17 cases) in group A,B,C and D in order,and the spasm-free rate in group A was significantly higher than that of other 3 groups,and the differences were statistically significant(x2 =4.924,5.249,4.298,all P ＜ 0.05),but there was no significant difference among the A,C,D groups (all P ＞ 0.05).The 12-month spasm-free rates were 54.2％ (13/24 cases),21.4％ (6/28 cases),24.1％ (7/29 cases),and 23.5 ％ (4/17 cases) in group A,B,C and D,and the spasm-free rate in group A was significantly higher than that in other 3 groups,and the differences were statistically significant(x2 =8.354,7.923,4.364,all P ＜ 0.05),but there was no significant difference among the A,C,D groups (all P ＞ 0.05).Conclusions The spasm-free rate of KD therapy for newly-diagnosed IS is higher than that of IS patients whose drug-therapy failed.KD therapy may be the top priority for IS patients and part of those patients whose drug-therapy failed can still get seizure-free with KD diet.
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Objective@#To explore the mechanism of abnormal expression of microRNA155 (miR155) in myeloma drug-resistance to probe the possibility of inhibiting miR155 expression to restore chemotherapy sensitivity and its molecular mechanism in drug-resistant myeloma cells.@*Methods@#Drug-resistant myeloma cell-line RPMI8226/DOX was established by culturing RPMI8226 cells with continuous low concentration and intermittent gradually increasing concentration of doxorubicin in vitro; The levels of miR155 mRNA were measured by qRT-PCR, and both proteins FOXO3a and BCL-2 expressions were detected by Western blot in cell-lines RPMI8226/S and RPMI8226/Dox. RPMI8226/DOX cells were transfected by miR155 inhibitor and mimic using gene transfer method, and then CCK-8 was used to measure proliferation and inhibition ratio, the changes of miR155 expression were detected by RT-PCR. Proteins FOXO3a and BCL-2 were detected by Western blot.@*Results@#Comparing with RPMI8226 cells, the level of miR155 mRNA was obviously up-regulated with the relative expression of 26.860±2.340, together with increased expression of Bcl-2 protein but decreased expression of FOXO3a in RPMI8226/DOX cells. After 72 h treatment with miR155 inhibitor, the inhibition rate of transfection was 64.57%, miR155 expression decreased sharply, the level of FOXO3a expression was upregulated while BCL-2 expression decreased, chemotherapy sensitivity was restored on cell-line RPMI8226/DOX with reversed drug-resistance ratio of 2.518.@*Conclusions@#The abnormal expression of miR155 was closely associated with myeloma drug-resistance, targeting inhibition of miR155 expression could restore chemotherapy sensitivity by increasing FOXO3a expression in drug-resistant myeloma cells.
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Objective To compare the efficiency and safety between Aripiprazole and other traditional drugs for Tourette's syndrome treatment.Methods Databases such as China National Knowledge Infrastructure,Wanfang,VIP,China Biology Medicine Disc,PubMed and Web of Science were electronically searched for studies on Aripiprazole for Tourette's syndrome treatment.According to the inclusion and exclusion criteria,studies,extracted data,and assessed quality were screened.Meta-analysis was performed by using Stata 11.0 software.Results Four studies about Aripiprazole for Tourette's syndrome treatment with 396 patients (Aripiprazole group:201 cases;control group:195 cases) were synthetically and quantitatively analyzed.Meta-analysis results showed that Aripiprazole was better than other traditional agents (placebo,Tiapride,Haloperidol) [standardized mean difference (SMD) =0.21,95％ CI:0.10-0.32].The subgroup by time of treatment analysis results indicated that Aripiprazole was superior to other drugs in 2 weeks (SMD =0.28,95％ CI:0.06-0.50).There was no significant difference in the efficacy between Aripiprazole and other drugs for treatment of Tourette's syndrome in 4 weeks and 8 weeks after treatment (SMD =0.16,0.28;95％ CI:-0.05-0.38、-0.20-0.76).The subgroup by matched drugs results suggested that Aripiprazole was better than Tiapride (SMD =0.29,95 ％ CI:0.15-0.43),but was not significantly different from Haloperidol (SMD =-0.03,95％ CI:-0.28-0.22).There was no significant difference in side effects incidence between Aripiprazole and traditional drugs for treatment of Tourette's syndrome (RR =0.83,95 ％ CI:0.36-1.89).Conclusions Compared with the conventional drugs,Aripiprazole has better therapeutic efficacy in the treatment of Tourette's syndrome in children in 2 weeks.Aripiprazole is better than Tiapride,but equal to Haloperidol in the treatment of Tourette's syndrome.The safety of Aripiprazole needs to be further verified.
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Objective To explore the potential changes of connexin Cx36 in hippocampus and cortical neurons of rats with hyperthermia -induced convulsion.Methods Rats were divided into 2 groups according to the random number table method:normal control group and experimental group.Febrile convulsion model was elicited through im-mersion in warm water.The experimental group was generated following febrile convulsion model:hyperthermia group and febrile convulsion group.Among normal control group,hyperthermia group and febrile convulsion group,western blot analysis and immunofluorescence labeling techniques were used to examine the expression of Cx36 protein in the hippo-campus and cortex area.One -Way ANOVA was used to compare the mean of multiple sample,the LSD test was used to compare the two means.Tamhane′s test was used when variance were uneven.Results The incubation period,seizure duration and temperature were (4.39 ±0.08)min,(5.38 ±0.07)min,(41 .87 ±0.06)℃ after hyperthermia-in-duced convulsion,respectively.Western blot analysis showed that the expression of Cx36 protein in the hippocampus and cortex area decreased gradually after 1 0 times of seizure in normal control group,hyperthermia group and febrile convulsion group,and the febrile convulsion group decreased most obviously.Compared with normal control group and hyperthermia group,respectively,in febrile convulsion group Cx36 expression obviously decreased in the hippocampus and cortex in rats with 1 ,5,1 0 seizure times induced by hyperthermia,and with the increase of number of induced con-vulsion,the expression of Cx36 was significantly decreased in the cortex (0.1 04 ± 0.01 2)and CA1 (0.091 ± 0.01 1 ),CA3 (0.090 ±0.01 1 )and DG (0.092 ±0.01 2)areas of hippocampal neurons compared with the normal control group (0.21 2 ±0.01 7,0.1 67 ±0.01 3,0.1 59 ±0.01 4,0.1 71 ±0.01 3)and the hyperthermia group (0.1 89 ± 0.006,0.1 44 ±0.008,0.1 29 ±0.005,0.1 65 ±0.01 1 )(all P <0.05).Furthermore,the extent of reduction in Cx36 expression seemed to correlate with the number of seizures.Conclusion With the increase of thermal seizure frequen-cy,Cx36 expression of rats was decreased obviously which may lower convulsion threshold and lead to recurrent seizures.
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Objective To analyze the clinical features and gene mutation in mthylmalonic acidemia (MMA) accompanied by homocysteinemia (cblC), and review the relevant literatures. Methods The clinical features of 3 cases of MMA diagnosed by gene detection were retrospectively analyzed, and meanwhile the pertinent literatures of pathogenesis of MMA, especially combined with late-onset cblC and its gene detection, were reviewed. Results Patient 1 (26 days old) suffered from intermittent convulsions for 3 days, with isosuccinic acid 175.8 μmol/L, C3/C2 rate 1.363, homocysteine >?65 μmol/L and abnormal EEG. MMACHC gene detection found an exon deficiency (delEXON1), which has not been reported. Patient 2 ( 12 year old) was hospitalized for limb shaking, hyperspasmia and vomiting. His isosuccinic acid level was 334.3 μmol/L, C3/?C2 rate was 0.37, homocysteine >?65 μmol/L, and had abnormal EEG. MMACHC gene detection found the mutations of c.482G?>?A and c.609G?>?A. Patient 3 was hospitalized for intermittent convulsions for 20 days, whose isosuccinic acid, C3/?C2 rate, and homocysteine were increased. MMACHC gene detection found the mutations of c.394C?>?T and c.540del8 and c.540del8 had not been reported. Review of literatures discovered that MMA was combined with epileptic seizure in some patents, which further validate that the mutation in MMACHC gene c.482G?>?A may be related to the late-onset of cblC. Conclusions Gene detection contributes to the diagnosis of MMA; the mutation of MMACHC gene c.482G>A may be related to the late-onset of cblC; delEXON1 and c.540del8 are new mutations which have not been reported.
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Objective To evaluate the safety and efficacy of retrograde flexible ureteroscopy combined with visual minimally channel percutaneous nephrolithotomy ( mPCNL) in the treatment of staghorn calculi.Methods A total of 23 patients with staghorn calculi were treated by retrograde flexible ureteroscopy combined with visual mPCNL from January to June, 2015.Of all the 23 patients, 20 were males and 10 were females ( ages ranged from 26 years to 79 years ) with mean age of 39.6 years.The calculi ranged from 3.5 cm to 6.5 cm [average (5.35 ±0.16) cm].Under general anesthesia or epidural anesthesia, the stones were shattered within the visual field through mPCNL firstly, then the stones in upper calyx, lower calyx and/or calyx which parallel with the percutaneous renal access were shattered by retrograde flexible ureteroscopy.F5 or F6 double-J tubes and nephrostomy tubes were routinely indwelled postoperatively.KUB and CT were performed at the first day postoperatively.A second-stage retrograde flexible ureteroscopy combined with visual mPCNL were performed for patients with residual stone fragments larger than 4 mm at the first week follow-up.Re-examinations with B-ultrasonography or CT was performed at the fourth week follow-up postoperatively to evaluate the stone free rate.Residual stones ≥ 4 mm were considered as clinical significance of residual stone.Results All the procedures were successful.The stone free rate was 91.3%(21/23) at one-stage and 100% (23/23) after the second stage.The operation time was 75-217 min [average (125 ±13.2) min] for one-stage procedure.Seven patients experienced with mild complications ( Clavien-Dindo classification: gradeⅠ-Ⅱ) , and no patient experienced grade Ⅲ or above complications.Conclusions Retrograde flexible ureteroscopy combined with visual mPCNL are safe and effective for the treatment of staghorn calculi.
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Objective To investigate the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and the mutation features of its pathogenic gene proline-rich transmenbrane protein 2 (PRRT2). Method The clinical manifestations and genetic tests of one case of PKD were retrospectively analyzed, and the related literatures were reviewed. Results A 10 year and 9 month male patient was recruited. The age of dyskinesias onset was 7 year and 6 month. The descriptions of the attacks were abnormal involuntary movements which were induced by sudden voluntary movements and presented with dystonia. The frequency of the attacks was three to ifve times per day with the duration lasting ten to twenty seconds, and there is no loss of consciousness. Treatment with oxcarbazepine is effective. A heterozygous mutation in PRRT2 gene, c.649_650insC (p. 217fs224X), was found by genetic testing, and the mutation was inherited from the patient’s mother who showed no symptom of PKD. Conclusion The onset age of PKD could be in the childhood and adolescence. The attack is provoked by sudden movements and the duration time is short. Treatment with antiepileptic drug is effective. The test of PRRT2 gene may help diagnosis. Mutation c.649_650insC is the hotspot mutation of the gene.
ABSTRACT
Tuberous sclerosis complex (TSC) is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.The diverse and varied presentations and progression can be life-threatening with significant impact on quality of life.The 2012 international Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with TSC.