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1.
Endocrinology and Metabolism ; : 533-546, 2022.
Article in English | WPRIM | ID: wpr-937424

ABSTRACT

Background@#It is well-established that serum testosterone in men decreases with age, yet the underlying mechanism of this change remains elusive. @*Methods@#The expression patterns of Fancd2 opposite-strand (Fancd2os) in BALB/c male mice and testicular tissue derived cell lines (GC-1, GC-2, TM3, and TM4) were assessed using real-time polymerase chain reaction (RT-PCR), Western blot and immunofluorescence. The Fancd2os-overexpressing or knockdown TM3 cells were constructed by infecting them with lentivirus particles and were used to evaluated the function of Fancd2os. The testosterone production was measured using enzyme linked immunosorbent assay (ELISA) and the steroidogenic enzymes such as steroidogenic acute regulatory protein (StAR), P450 cholesterol side-chain cleavage (P450scc), and 3β-hydroxysteroid dehydrogenase (3β-HSD) were analysed using RT-PCR. The apoptosis of TM3 cells induced by ultraviolet light or testicular tissues was detected using flow cytometry, Western blot or dUTP-biotin nick end labeling (TUNEL) assays. Pearson correlation analysis was used to assess the correlation between the Fancd2os expression and TUNEL-positive staining in mouse testicular Leydig cells. @*Results@#The Fancd2os protein was predominantly expressed in mouse testicular Leydig cells and its expression increased with age. Fancd2os overexpression inhibited testosterone levels in TM3 Leydig cells, whereas knockdown of Fancd2os elevated testosterone production. Fancd2os overexpression downregulated the levels of StAR, P450scc and 3β-HSD, while Fancd2os knockdown reversed this effect. Fancd2os overexpression promoted ultraviolet light-induced apoptosis of TM3 cells. In contrast, Fancd2os knockdown restrained apoptosis in TM3 cells. In vivo assays revealed that higher Fancd2os levels and mouse age were associated with increased apoptosis in Leydig cells and decreased serum testosterone levels. Pearson correlation analysis exhibited a strong positive correlation between the expression of Fancd2os and TUNEL-positive staining in mouse testicular Leydig cells. @*Conclusion@#Our findings suggest that Fancd2os regulates testosterone synthesis via both steroidogenic enzymes and the apoptotic pathway.

2.
Chinese Journal of Contemporary Pediatrics ; (12): 285-289, 2022.
Article in English | WPRIM | ID: wpr-928601

ABSTRACT

OBJECTIVES@#To study the efficacy and safety of domestic generic levetiracetam in replacement of brand-name levetiracetam in the treatment of children with epilepsy.@*METHODS@#A retrospective analysis was performed on the medical data of 154 children with epilepsy who received domestic generic levetiracetam in the inpatient or outpatient service of Guangdong Provincial People's Hospital from May 2019 to December 2020. Domestic generic levetiracetam and brand-name levetiracetam were compared in terms of efficacy and safety.@*RESULTS@#For these 154 children, the epilepsy control rate was 77.3% (119/154) at baseline. At 6 months after switching to domestic generic levetiracetam, the epilepsy control rate reached 83.8% (129/154), which showed a significant increase (P<0.05). There was no significant change in the frequency of seizures from baseline to 6 months after switching (P>0.05). The incidence of refractory epilepsy in children with no response after switching treatment was significantly higher than that in children with response (P<0.05). Before switching, only 1 child (0.6%) experienced somnolence, while after switching, 3 children (1.9%) experienced mild adverse drug reactions, including dizziness, somnolence, irritability, and bad temper.@*CONCLUSIONS@#Switching from brand-name to generic levetiracetam is safe and effective and holds promise for clinical application, but more prospective randomized controlled trials are required in future.


Subject(s)
Child , Humans , Epilepsy/drug therapy , Levetiracetam , Prospective Studies , Retrospective Studies , Seizures
3.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 301-307, 2022.
Article in Chinese | WPRIM | ID: wpr-936212

ABSTRACT

Objective: To investigate the related factors and treatments of delayed cerebrospinal fluid rhinorrhea (CFR) after invasive pituitary adenoma (IPA) surgery. Methods: One hundred and forty-two patients with IPA treated in Tianjin Huanhu Hospital from January 2014 to January 2019 were analyzed retrospectively, including 62 males and 80 females, aging from 38 to 67 years. The clinical data of patients before and after operation were collected. All patients with postoperative CFR underwent endoscopic CFR repair. During the operation, residual or recurrent pituitary adenomas were resected, the dura around the leak was enlarged and the necrotic tissue was removed. For those who still had fluid leakage after repair, the necrotic tissue was cleaned up, the leakage was filled and reinforced under endoscopy. Endoscopic rhinorrhea repair was performed if necessary. The cerebrospinal fluid leak was repaired with multi-layer materials. The related risk factors of delayed CFR after operation were analyzed. SPSS 19.0 software was used for statistical analysis. Results: Among the 142 patients in this group, 64 cases underwent total tumor resection and 78 cases underwent non-total tumor resection. They were followed up for 6 to 72 months. Thirty-one cases had delayed CFR, with an incidence of 21.83%, and occurred between 1 and 5 years postoperatively, with an average of 2.4 years. All 31 patients with delayed CFR underwent endoscopic CFR repair. The nasal endoscopy was rechecked at 2 weeks, 1 month, 3 months and 6 months after operation. Twenty-eight patients were repaired successfully after 1 operation, while 2 patients after 2 operations and 1 patient after 3 operations. These patients were followed up for 6 to 60 months, and no CFR occurred again. Univariate analysis showed that the degree of tumor resection, recurrence, size, texture, postoperative radiotherapy and operator experience were the risk factors of delayed CFR (all P<0.05). Multivariate analysis showed that the degree of tumor resection and recurrence were the highest independent risk factors for postoperative CFR, and tumor size, texture, postoperative radiotherapy and operator experience were the independent risk factors in this study. Conclusions: Delayed CFR after IPA is related to the degree of tumor resection, recurrence, size, texture, postoperative radiotherapy and the operator experience. It is necessary to completely remove the tumor under endoscope, to expand resection of the dura and necrotic tissue around the leak, to repair the defect with multi-layer materials, to follow-up closely and to repair timely after operation.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Adenoma/surgery , Cerebrospinal Fluid Leak , Cerebrospinal Fluid Rhinorrhea/surgery , Pituitary Neoplasms/surgery , Retrospective Studies
4.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 951-955, 2021.
Article in Chinese | WPRIM | ID: wpr-942554

ABSTRACT

Objective: To indicate the clinical features of endoscopic transnasal resection of epidural cholesteatoma at paracentral skull base and to analyze its efficacy. Methods: The total excision rate, postoperative complications and postoperative curative effect of 7 patients (4 males and 3 females, aging from 32 to 63 years old) who underwent middle skull base surgery for epidural cholesteatoma resection under transnasal endoscope at Tianjin Huanhu Hospital between August 2017 and August 2020 were retrospectively reviewed. All patients were followed up for 6 to 36 months. The postoperative MRI, clinical symptoms and recurrence were reviewed. Descriptive statistical methods were used for analysis. Results: Among the 7 patients, there were total resection (complete resection of cyst contents and capsule) in 4 patients, near-total resection (complete resection of cyst contents, incomplete resection of cyst capsule) in 1 patient, and subtotal resection (incomplete resection of cyst contents and capsule) in 2 patients. The clinical symptoms of all patients were improved postoperatively with 1 patient who had no clinical symptoms. One case had postoperative cerebrospinal fluid rhinorrhea, which was cured after lumbar drainage and nasal iodoform gauge packing. Up to now, 7 patients (including patients with partial resection) had no recurrence. Conclusion: Endoscopic transnasal approaches may be effectively used for resection of epidural cholesteatoma in the paracentral skull base in carefully selected cases.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cholesteatoma , Endoscopy , Neoplasm Recurrence, Local , Retrospective Studies , Skull Base/surgery
5.
Chinese Circulation Journal ; (12): 1215-1218, 2016.
Article in Chinese | WPRIM | ID: wpr-506854

ABSTRACT

Objective: To explore weather microRNA let-7c (miR-let-7c) could regulate myotrophin gene expression in rat’s H9c2 cardiac myocytes with possible mechanisms. Methods: Recombinant plasmid carrying 3′ untranslated region (3′-UTR) of myotrophin and miRNA precursor of let-7c was co-transfected into Hela cells to construct the luciferase reporter system in order to measure luciferase activity. Rat’s H9c2 cardiac myocytes were cultured. The let-7c gene expression was detected by Taqman probe-based real-time PCR after let-7c miRNA precursor or let-7c miRNA inhibitor transfection respectively; protein expressions of myotrophin and nuclear factor-κB (NF-κB) were examined by Western blot analysis. Results: Luciferase activity examination indicated that compared with recombinant luciferase gene expression carrier (pMIR-MTPN)+miR precursor negative control group, pMIR-MTPN+miR-let-7c miRNA precursor group showed reduced luciferase activity (59.30±9.90) % vs (98.10±15.10) %. Western blot analysis presented that compared with miR negative control group, miR-let-7c precursor group had decreased protein expressions of myotrophin (0.28±0.05) vs (0.90±0.09) and NF-κB (0.25±0.06) vs (0.75±0.07); in contrast, compared with Negative inhibitor group, miR-let-7c inhibitor group had increased protein expressions of myotrophin (1.14±0.09) vs (0.44±0.09) and NF-κB (1.09±0.05) vs (0.71±0.06), allP Conclusion: miR-let-7c could inhibit myotrophin expression via acting on its 3′-UTR domain and may also inlfuence NF-κB signaling pathway in rat’s H9c2 cardiac myocytes.

6.
Asian Pacific Journal of Tropical Medicine ; (12): 330-333, 2015.
Article in Chinese | WPRIM | ID: wpr-951575

ABSTRACT

Objective: To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). Methods: Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. Results: No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls. Conclusions: No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

7.
Journal of Audiology and Speech Pathology ; (6): 477-480,481, 2015.
Article in Chinese | WPRIM | ID: wpr-602938

ABSTRACT

Objective To study the characteristics of vestibular autorotation test (VAT) in patients with the posterior circulation transient ischemic attacks(PCTIA) ,further reveal the pathogenesis vestibular function damage because of PCTIA .Methods VAT was performed on 41 patients with posterior circulation transient ischemic at‐tacks(PCTIA group) and 30 healthy controls(control group) .Parameters analyzed included gains ,phases and a‐symmetry of VAT .The positive result of the test could be defined if any of the paramaeters was abnormal .Results In the PCTIA group and control group ,gains were enhanced without being reduced as showed in 25 (62 .5% ,25/40) cases and 5(16 .7% ) ,respectively (χ2 =7 .09 ,P<0 .01) ,gains were enhanced with reduced as showed in 10(25% ) cases and 0(0% ) ,respectively (χ2 =8 .78 ,P<0 .01) .Conclusion The results of VAT in patients with the PCTIA can show gains enhanced with reduced in different frequency .VAT can provide valuable reference on positioning as‐sessment of vestibular system damage in patients with PCTIA .

8.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 57-60, 2015.
Article in Chinese | WPRIM | ID: wpr-247980

ABSTRACT

<p><b>OBJECTIVE</b>To Analyze the influence factors on the complications of percutaneous dilational tracheotomy.</p><p><b>METHODS</b>Between August 2008 and February 2014, there were 3 450 patients with the indications of tracheotomy accepted percutaneous dilational tracheostomy, mainly using percutaneous dilational and percutaneous guide wire forceps in these cases. Statistical analysis was performed by SPSS 19.0 software on postoperative complications, the possible influence factors including age, gender, etiology, preoperative hypoxia, obesity, preoperative pulmonary infection, state of consciousness, operation method, operation doctor and whether with tracheal intubation.</p><p><b>RESULTS</b>Among 3 450 patients, there were 164 cases with intraoperative or postoperative complications, including postoperative bleeding in 74 cases (2.14%), subcutaneous emphysema in 54 cases (1.57%), wound infection in 16 cases (0.46%), pneumothorax in 6 cases (0.17%), mediastinal emphysema in 5 cases (0.14%), operation failed and change to conventional incision in 4 cases (0.12%), tracheoesophageal fistula in 2 cases (0.06%), death in 3 cases(0.09%).Obesity, etiology, preoperative hypoxia, preoperative pulmonary infection, state of consciousness and operation method were the main influence factors, with significant statistical difference (χ(2) value was 0.010, 0.000, 0.002, 0.000, 0.000, 0.000, all P < 0.05). Gender, age, operation doctor and whether there was the endotracheal intubation were not the main influence factors. There was no significant statistical difference (P > 0.05).</p><p><b>CONCLUSION</b>Although percutaneous dilational tracheostomy is safe, but the complications can also happen. In order to reduce the complications, it is need to pay attention to the factors of obesity, etiology, preoperative hypoxia, preoperative pulmonary infection, state of consciousness and operation method.</p>


Subject(s)
Humans , Intubation, Intratracheal , Postoperative Complications , Epidemiology , Subcutaneous Emphysema , Surgical Instruments , Tracheoesophageal Fistula , Tracheostomy , Tracheotomy , Methods
9.
Tianjin Medical Journal ; (12): 1322-1325, 2015.
Article in Chinese | WPRIM | ID: wpr-481506

ABSTRACT

Objective To assess clinical efficacy of comprehensive treatment on chronic sinusitises (CRS) with neutro?phils infiltration and eosinophilic infiltration as pathological features. Methods A total of 256 CRS patients whose symp?toms were not been improved after surgery (visual analog scale>6,3 months after surgery) were included in this study. Dif?ferent comprehensive treatments were given to the patients according to the different types of cell infiltration. The visual ana?log scale (VAS), Lund-Kennedy and nasal histopathological examination were observed after treatment in patients. Results After different comprehensive treatments, the VAS and Lund-Kennedy were improved in patients with eosinophils infiltra?tion, but the number of eosinophils was not reduced. The VAS, Lund-Kennedy and the number of neutrophils were signifi?cantly improved in patients with mainly neutrophils infiltration. Conclusion According to different immune pathological characteristics, patients of CRS should be given different comprehensive treatments. There is a obvious efficacy for patients with neutrophil infiltration.

10.
Asian Pacific Journal of Tropical Medicine ; (12): 330-333, 2015.
Article in English | WPRIM | ID: wpr-820352

ABSTRACT

OBJECTIVE@#To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE).@*METHODS@#Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing.@*RESULTS@#No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls.@*CONCLUSIONS@#No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

11.
Chinese Journal of Contemporary Pediatrics ; (12): 477-481, 2015.
Article in Chinese | WPRIM | ID: wpr-346123

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).</p><p><b>METHODS</b>The clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.</p><p><b>RESULTS</b>Eleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.</p><p><b>CONCLUSIONS</b>TSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.</p>


Subject(s)
Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Heart Neoplasms , Genetics , Hemodynamics , Mutation , Rhabdomyoma , Genetics , Tuberous Sclerosis , Tumor Suppressor Proteins , Genetics
12.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 395-398, 2014.
Article in Chinese | WPRIM | ID: wpr-302926

ABSTRACT

<p><b>OBJECTIVE</b>To discuss the clinical diagnosis and treatment of cavernous sinus syndrome caused by fungal infection of sphenoid sinus.</p><p><b>METHODS</b>The clinical manifestations, imaging examination, operation methods and complications were analyzed retrospectively in 9 patients with fungal infection of sphenoid sinus treated between January 2007 and September 2012, and the clinical experience was summarized. The treatment methods included endoscopic operation combined with antifungal drugs, and the primary disease was treated actively at the same time.</p><p><b>RESULTS</b>After treatment, one patient with cavernous sinus thrombophlebitis had complications of ptosis, eyeball fixation and could only see the moving finger in the serious eye, while the contralateral eye regained normal vision. One patient with hypoproteinemia mucormycosis and diabetic remained blindness, eyeball fixation and ptosis in the left eye. In 3 patients, the vision was improved, but the eyeball movement was still limited. In another 3 patients, there was no significant recovery of vision, with one eye fixed in movement. The symptoms in 1 patient disappeared completely. All patients had no other systemic complications.</p><p><b>CONCLUSIONS</b>Cavernous sinus syndrome caused by the fungal infection of sphenoid sinus is rare. It is commonly happened in patients with systemic disease or immunocompromised patients. Early detection and parallel operation and continuous antifungal therapy can reduce the damage, but the prognosis is poor.</p>


Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Antifungal Agents , Therapeutic Uses , Cavernous Sinus Thrombosis , Therapeutics , Combined Modality Therapy , Mycoses , Retrospective Studies , Sphenoid Sinus , Sphenoid Sinusitis
13.
Chinese Journal of Applied Clinical Pediatrics ; (24): 917-919, 2013.
Article in Chinese | WPRIM | ID: wpr-733074

ABSTRACT

Objective To investigate the relationship between the serum levels of neuron-specific enolase (NSE) and the severity of electroencephalogram(EEG) in children with epilepsy.Methods Two hundred and thirty epileptic children and 74 healthy children were enrolled in the study.Serum level of NSE was detected and video EEG was performed before and 1 year after treatment of the epileptic children respectively.Serum level of NSE in healthy control group was also detected.Results The serum level of NSE before treatment of the epileptic children was significantly higher than that of healthy control group(P < 0.001).There was no significant difference in serum level of NSE between generalized seizures and focal seizures (P =0.13).The serum level of NSE 1 year after treatment was significantly decreased compared with that before treatment (P < 0.001),while the degree of severity on EEG was improved significantly.The serum level of NSE of abnormal EEG group was higher than that of the normal range EEG group and bounded EEG group(all P <0.05),there was positive correlation between serum level of NSE and the severity of EEG (rs =0.605,P < 0.001).Conclusions The serum levels of NSE are related to the severity of EEG changes.Serum NSE combined with EEG can betterly predict the degree of brain damage in epileptic children.

14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 896-898, 2013.
Article in Chinese | WPRIM | ID: wpr-733071

ABSTRACT

Objective To investigate the virulence gene and mutation features in the Chinese patients with autosomal dominant noctumal frontal lobe epilepsy(ADNFLE) by using the direct sequencing(DS) PCR products with all the exons of CHRNA4 in 6 ADNFLE families,and to interpret the molecular pathogenesis in Chinese patients affected by ADNFLE.Methods Six ADNFLE families were collected,included 66 people and 24 patients with ADNFLE,and 200 healthy volunteers were selected as control group.The genomic DNA was extracted.The exons 1-6 in CHRNA4 were amplified by the PCR.The amplified products were sequenced and analyzed.All data were analyzed with SPSS 13.0 software.Results There were 4 base substitutions in exon 5,and they were c.909T > G,c.1440G > T,c.1458T > C and c.942C > T.All those base substitutions were synonymous.The first three were homozygosis substitutions,but the last one was heterozygosis substitutions.Conclusions The hot spot mutations of CHRNA4 which have been reported were not detected.Whether or not there is a correlation between ADNFLE and this substitution need to be identified by study with

15.
Chinese Journal of Medical Genetics ; (6): 662-665, 2013.
Article in Chinese | WPRIM | ID: wpr-254541

ABSTRACT

<p><b>OBJECTIVE</b>To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).</p><p><b>METHODS</b>Two hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites.</p><p><b>RESULTS</b>The results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c.570C>T(D190D) and 6 single nucleotide polymorphisms (SNPs) of the CHRNA4 gene were detected in 6 sporadic cases, including c.639T/C, c.678T/C, c.1209G/T, c.1227T/C, c.1659G/A, and c.1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls.</p><p><b>CONCLUSION</b>This results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFLE. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.</p>


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , Asian People , Genetics , DNA Mutational Analysis , Methods , Epilepsy, Frontal Lobe , Genetics , Genes, Dominant , Mutation , Pedigree , Polymorphism, Single Nucleotide , Receptors, Nicotinic , Genetics
16.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1063-1066, 2012.
Article in Chinese | WPRIM | ID: wpr-746979

ABSTRACT

OBJECTIVE@#To study the feature and treatment method of patients with empty sella merger cerebro-spinal fluid leakage of nasal.@*METHOD@#There were 8 cases with empty sella merger cerebrospinal fluid leakage of nasal, 2 cases were accepted the repairing surgery of cerebrospinal fluid leakage one time, 4 cases were accepted the repairing surgery of cerebrospinal fluid leakage used endoscope 2 times, 1 case was accepted repairing surgery of cerebrospinal fluid leakage used endoscope merge craniotomy and ventricle celiac bypass, 1 case recurrences after repairing surgery of cerebrospinal fluid was recurred after conservative treatment. Some postoperative were stayed in bed for three weeks and lumbar drainage for 1 week.@*RESULT@#One case of cerebral hemorrhage after surgery was cured with craniotomy, followed for 2 years without recurrence. One case was recurred after conservative treatment. Two cases recurrences after surgery 3 years ago were accepted surgery again followed by one year without recurrence. One case who recurrence 1 year later was accepted repairing surgery of cerebrospinal fluid leakage used endoscope merge craniotomy and ventricle celiac bypass followed six months without recurrence. One cash after once surgery was followed half a year without recurrence. One case with recurrence 5 years later was accepted repairing surgery again.@*CONCLUSION@#The patient with empty sella combined cerebrospinal fluid leakage of nasal was rare, the main method was endoscopic sinus surgery treatment, but it recurred usually. The patients with repeatedly recurrence can be considered to accepted the surgery of ventricle celiac bypass. It required long-term postoperative follow-up and review.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cerebrospinal Fluid Rhinorrhea , Diagnosis , General Surgery , Empty Sella Syndrome , Diagnosis , General Surgery , Endoscopy , Nose , General Surgery
17.
Chinese Journal of Medical Genetics ; (6): 14-18, 2011.
Article in Chinese | WPRIM | ID: wpr-234327

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).</p><p><b>METHODS</b>One hundred and six Han nationality patients (74 sporadic and 32 familial) were recruited and studied. Mutational screening was performed by sequencing all the 6 coding exons of the CHRNB2 gene and exons 6 and 7 of the CHRNA2 gene including the donor and acceptor splice sites.</p><p><b>RESULTS</b>The results excluded the involvement of all known published mutations of the CHRNB2 and CHRNA2 genes. However, a novel synonymous mutation c.483C>T (H161H) and a single nucleotide polymorphism (c.1407C>G) of CHRNB2 gene were detected in two ADNFLE sporadic patients respectively. The nucleotide variation H161H was heterozygous and absent in 200 healthy control samples. The mutation was also found in the proband's unaffected mother.</p><p><b>CONCLUSION</b>Our study suggests that the mutations of CHRNB2 and CHRNA2 genes may be rare in Chinese ADNFLE population. The novel synonymous mutation of H161H has not been reported previously and its impact on the pathogenesis of ADNFLE needs to be further studied.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Male , Asian People , Genetics , DNA Mutational Analysis , Epilepsy, Frontal Lobe , Genetics , Genes, Dominant , Mutation , Receptors, Nicotinic , Genetics
18.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 334-336, 2007.
Article in Chinese | WPRIM | ID: wpr-262865

ABSTRACT

<p><b>OBJECTIVE</b>To discuss the surgical methods and clinical effect of endoscopic transoropharyngeal approach to deal with the lesions of the ventral region of the craniocervical junction.</p><p><b>METHODS</b>From August 2002 to November 2006, endoscopic transoropharyngeal approach was taken to deal with the lesions of the ventral region of the craniocervical junction, including 6 patients with chordoma, 5 patients with craniovertebral malformation, 3 patients with skull-base invagination combined with Chiari malformation, 2 patients with odontoid fracture . 0 degrees endoscope was used to deal with the lesions of middle and lower clivus, 30 degrees endoscope was used to deal with the lesions of craniovertebral malformation.</p><p><b>RESULTS</b>Follow-up ranged from 2 to 48 months. Three patients with chordoma recurred. All patients with craniovertebral malformation recovered.</p><p><b>CONCLUSIONS</b>Endoscopic transoropharyngeal approach is a new method to deal with the lesions of the ventral region of the craniocervical junction, and it has many advantages, such as direct approach, good exploration, micro-invasive, wide operation space, and good results.</p>


Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Cervical Vertebrae , Pathology , Endoscopy , Methods , Head , Neck , Occipital Bone , Pathology , Oropharynx , Pathology , Skull Base , General Surgery
19.
Journal of Applied Clinical Pediatrics ; (24)2006.
Article in Chinese | WPRIM | ID: wpr-639815

ABSTRACT

0.05).Of essay group 19 children whose PET were normal or slight abnormal,8 children's VEEG had epileptifrom abnormalities only appear in lucid interval,8 children's VEEG had epileptifrom abnormalities appear in nocturnal sleep period,3 children's VEEG had epileptifrom abnormalities appear in lucid interval and nocturnal sleep period.Of essay group,7 children whose PET were serious abnormal,6 children's VEEG had epileptifrom abnormalities appear in lucid interval and nocturnal sleep period.The PET outcome was relate with the time of VEEG epileptic discharge(r=0.461 P

20.
Journal of Applied Clinical Pediatrics ; (24)2004.
Article in Chinese | WPRIM | ID: wpr-639909

ABSTRACT

Objective To assess the long efficacy and safety of Lamotrigine(LTG) monotherapy and add-on therapy different types of epileptic seizures in children.Methods According to the classification of the 1981 and 1989 International Union of Antiepileptic for epileptic seizure,a total of 124 cases with epilepsy were included in the study and divided into non-refractory group with 93 cases and refractory group with 31 cases.LTG treatment only or add-on were used.Original drug dosage was not changed and LTG was added slowly and carefully untill the terrible side effect appeared.The average monthly seizure frequency with baseline in the last 3 months was compared and the side effect was observed.Results Total efficiency was 72.6%,control rate was 51.6%.Total efficiency and control rate of the non-refractory group was 81.0% and 61.3%,which was significantly higher than those of refractory group(48.4%,22.6%).Total efficiency and control rate of the combination group with LTG and valproate sodium(VPA) was 78.4% and 54.5%,which was significantly higher than those of the group of LTG only(61.0%,44.0%).Clinical results was different significantly between the course of the observation period within and over 5 years(P

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