Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

OBJECTIVE: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism. METHODS: Patients with SeLECTS were divided into an untreated group and a monotherapy group, and the third group was a healthy control group. We determined the levels of various biochemical markers of bone metabolism, including procollagen type I nitrogenous propeptide (PINP), alkaline phosphatase (ALP), osteocalcin (OC), collagen type I cross-linked C-telopeptide (CTX), calcium, magnesium, phosphorus, parathyroid hormone (PTH), and vitamin D3 (VD3 ). RESULTS: A total of 1487 patients (from 19 centers) were diagnosed with SeLECTS; 1032 were analyzed, including 117 patients who did not receive any ASMs (untreated group), 643 patients who received only one ASM (monotherapy group), and 272 children in the healthy control group. Except for VD3 , other bone metabolism of the three groups were different (p < .001). Bone metabolism was significantly lower in the untreated group than the healthy control group (p < .05). There were significant differences between the monotherapy and healthy control group in the level of many markers. However, when comparing the monotherapy and untreated groups, the results were different; oxcarbazepine, levetiracetam, and topiramate had no significant effect on bone metabolism. Phosphorus and magnesium were significantly lower in the valproic acid group than the untreated group (adjusted p < .05, Cliff's delta .282-.768). CTX was significantly higher in the lamotrigine group than in the untreated group (adjusted p = .012, Cliff's delta = .316). SIGNIFICANCE: Epilepsy can affect many aspects of bone metabolism. After controlling epilepsy and other confounders that affect bone metabolism, we found that the effects of ASMs on bone metabolism differed. Oxcarbazepine, levetiracetam, and topiramate did not affect bone metabolism, and lamotrigine corrected some of the abnormal markers of bone metabolism in patients with epilepsy.

Synergistic effects of 3D chitosan-based hybrid scaffolds and mesenchymal stem cells in orthopaedic tissue engineering.

Restoration of damaged bone and cartilage tissue with biomaterial scaffolds is an area of interest in orthopaedics. Chitosan is among the low-cost biomaterials used as scaffolds with considerable biocompability to almost every human tissue. Considerable osteoconductivity, porosity, and appropriate pore size distribution have made chitosan an appropriate scaffold for loading of stem cells and a good homing place for differentiation of stem cells to bone tissue. Moreover, the similarity of chitosan to glycosaminoglycans and its potential to be used as soft gels, which could be lasting more than 1 week in mobile chondral defects, has made chitosan a polymer of interest in repairing bone and cartilage defects. Different types of scaffolds using chitosan in combination with mesenchymal stem cells (MSCs) are discussed. MSCs are widely used in regenerative medicine because of their regenerative ability, and recent line evidence reviewed demonstrated that the combination of MSCs with a combination of chitosan with different materials, including collagen type 1, hyaluronic acid, Poly(L-lacticacid)/gelatin/ß-tricalcium phosphate, gamma-poly[glutamic acid] polyelectrolyte/titanium alloy, modified Poly(L-Lactide-co-Epsilon-Caprolactone), calcium phosphate, ß-glycerophosphate hydrogel/calcium phosphate cement (CPC), and CPC-Chitosan-RGD, can increase the efficacy of using MSCs, and chitosan-based stem cell delivery can be a promising method in restoration of damaged bone and cartilage tissue.

Comparison of renal safety and bone mineral density of tenofovir and entecavir in patients with chronic hepatitis B: a systematic review and meta-analysis.

OBJECTIVES: Tenofovir disoproxil fumarate (TDF) and entecavir (ETV) are recommended as first-line treatments for chronic hepatitis B (CHB). However, the safety of these two drugs remains controversial. This study aimed to evaluate and compare renal function and bone mineral density in patients with CHB who took TDF or ETV. METHODS: The electronic databases of the Cochrane Library, PubMed, and Embase were searched. The keywords were: "CHB", "tenofovir", and "entecavir". Heterogeneity and subgroups were analyzed. RESULTS: A total of 16 studies met the inclusion criteria. There was no significant difference in serum creatinine levels between the TDF and the ETV group. There was a significant standardized mean difference (SMD) in the serum estimated glomerular filtration rate between months (12 months: SMD [95% confidence interval] = -0.07 [-0.12, -0.01]; 18-24 months: SMD [95% confidence interval] = -0.11 [-0.17, -0.05]), but no significant difference emerged in the long-term drug use for over 24 months. There was no significant difference in the incidence of osteopenia/osteoporosis (I2 = 41%, risk ratio [95% confidence interval] = 1.29 [0.93, 1.77], P-value = 0.13 >0.05). CONCLUSION: Compared with the ETV group, a greater reduction in estimated glomerular filtration rate and serum phosphorus levels was observed in the TDF group. There was no significant difference in the incidence of osteopenia/osteoporosis between the two groups.

S100P acts as a target of miR-495 in pancreatic cancer through bioinformatics analysis and experimental verification.

S100 calcium binding protein P (S100P) and miR-495 are aberrantly expressed and exert essential roles in cancers. However, the mechanisms of miR-495-S100P in pancreatic cancer are yet to be illustrated. Thus, we explored the regulatory functions of miR-495-S100P axis in pancreatic adenocarcinoma cells growth and invasion. In this study, we identified that S100P was upregulated in pancreatic adenocarcinoma by bioinformatics analysis of the GEO (Gene Expression Omnibus database) microarray dataset (GSE16515). Western blotting and luciferase reporter gene analysis exhibited that miR-495 negatively determined the level of S100P via binging to its 3'-untranslated regions (3'-UTRs). A series of functional experiments indicated that upregulation of miR-495 or S100P knockdown suppressed pancreatic adenocarcinoma cells proliferation, invasion, and promoted apoptosis. Furthermore, the expression of S100P was negatively associated with the level of miR-495 in The Cancer Genome Atlas (TCGA) pancreatic adenocarcinoma case-cohort. Besides, reintroduction of S100P debilitated the anti-cancer action of miR-495 in pancreatic adenocarcinoma cells. Our data indicated that miR-495 performed suppressive roles in pancreatic adenocarcinoma through targeting S100P.

Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.

BACKGROUND: Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS) is the most common form of idiopathic epilepsy in children, accounting for up to 23% of pediatric epilepsy. The pathogenesis of BECTS is unknown, but it is thought that genetic factors play a role in susceptibility to the disease. METHODS: To investigate the role of common genetic variants in BECTS pathogenesis, a 2-stage genome-wide association study (GWAS) was performed in 1,800 Chinese Han BECTS patients, and 7,090 healthy controls. Genetic findings were used in a Mendelian Randomization study in the UK Biobank dataset to investigate the potential role of smoking in BECTS. FINDINGS: Definitive evidence of a role for common-variant heritability was demonstrated, with heritability of BECTS of >10% observed even with conservative disease prevalence assumptions. Although no individual locus achieved genome-wide significance, twelve loci achieved suggestive evidence of association (5 × 10-8

Combination treatment of allergic rhinitis using ketotifen fumarate and budesonide administered as nasal sprays
.

OBJECTIVE: This study aims to evaluate the clinical efficacy of ketotifen fumarate and budesonide administered as nasal sprays to treat allergic rhinitis. MATERIALS AND METHODS: A total of 96 allergic rhinitis patients, who were admitted to our hospital in recent years, were selected as research subjectes. All patients were treated with ketotifen fumarate and budesonide administered as nasal sprays. Clinical efficacy was evaluated after treatment. RESULTS: After treatment, the symptoms of nasal obstruction, nasal itching, sneezing, and runny nose significantly improved, and the score of these symptoms was significantly lower when compared to that before treatment (p < 0.05). After treatment, the eosinophils and IgE in peripheral blood of patients obviously reduced (p < 0.05). CONCLUSION: Combination treatment of allergic rhinitis using ketotifen fumarate and budesonide administered as nasal sprays has a good clinical effect in treating allergic rhinitis, which is of great significance to improve the clinical symptoms and immune function of patients. Ketotifen fumarate and budesonide have good therapeutic effects on allergic rhinitis. The combination of these two drugs can rapidly relieve allergic symptoms.

Therapeutic contact lenses for ophthalmic drug delivery: major challenges.

Eye drop solutions are widely used by the ophthalmologist to treat the anterior segment eye diseases. However, eye drop solutions have many limitations including low bioavailability, high dose requirements, and poor patient compliance. Contact lenses are used to deliver the ocular drugs with high ocular bioavailability due to its immediate location to cornea. To attend controlled and prolonged drug release from the contact lenses, scientists are working on various systems including polymeric nanoparticles, molecular imprinting, microemulsion, micelles, liposomes, implantation, supercritical fluids, and use of vitamin E. However, the changes in the critical lens properties like swelling, optical transparency, ion permeability, tensile strength, oxygen permeability, high burst release, issues during monomer extraction, sterilization and storage are yet to address. The review is focused on the commercial challenges with different methodologies to develop therapeutic contact lenses for commercial market. Many animal and clinical studies are under pipeline and it is likely that the therapeutic contact lenses will be commercialized in next few years.

In-Furnace Control of Arsenic Vapor Emissions Using Kaolinite during Low-Rank Coal Combustion: Influence of Gaseous Sodium Compounds.

Using additives in the in-furnace control of arsenic emissions is promising for reducing the impact on the downstream selective catalytic reduction system and blocking the spread of arsenic pollutants into the environment. The study quantifies the arsenic adsorption capacity of kaolinite at high temperature and clarifies its fixation pathway with and without the existence of sodium vapor, which is easily adsorbed by kaolinite. Experiments about Al-coordination and acid sites of products, as well as calculations of thermodynamic equilibrium and the adsorption energy based on density functional theory were performed. During separated arsenic adsorption, nearly 40% of trivalent arsenic [As(III)] is oxidized to pentavalent arsenic [As(V)] and bonded to kaolinite, forming an As-O-Al structure. In this respect, the arsenic adsorption capacity of kaolinite is 200 µg g-1, with 24% of arsenic shown to be well-crystallized Al-bound. During the co-adsorption process, 82% of As(III) is oxidized to As(V) and connected to the Al surface of kaolinite, and the O-Na groups bond to As around the As-O-Al structure, thereby forming Na-O-As-O-Al. The arsenic adsorption capacity increased to 878 µg g-1 with well-crystallized Al-bound arsenic accounting for 56%. This study demonstrates the potential for the application of kaolinite as an arsenic adsorbent in the actual furnace.

[Linggui Fang protects the reproductive system of asthenospermia rats: An experimental study based on the L-carnitine pathway].

OBJECTIVE: To explore the protective effect of the Chinese medicinal prescription Linggui Fang (LGF) on the reproductive system of the ornidazole-induced asthenospermia (AS) rat and its possible action mechanisms. METHODS: Forty male SD rats weighing 200－230 g were equally randomized into four groups, blank control, AS model control, LGF treatment and L-carnitine (LC) intervention. The AS models were made in the latter three groups by intragastrical administration of ornidazole at 400 mg/kg. Meanwhile, the rats in the LGF group were treated intragastrically with LGF at 17.5 g/kg, those in the LC group with LC at 100 mg/kg, and the control animals with 0.5% sodium carboxymethylcellulose (CMC-Na), all once a day for 4 successive weeks. Then, all the rats were sacrificed for examination of the semen parameters, determination of the LC content and OCTN2 mRNA expression in the epididymis and observation of the histopathological changes in the testis. RESULTS: Compared with the AS model controls, the rats in the other groups showed significantly higher percentages of progressively motile sperm and total motile sperm (P < 0.01) as well as a higher LC content in the epididymis (P < 0.01), but no statistically significant difference in sperm concentration (P > 0.05). The expression of OCTN2 mRNA was remarkably upregulated in the LGF and LC groups in comparison with that in the AS model control (P < 0.05). Compared with the rats in the blank control group, the AS model controls exhibited markedly increased morphologically abnormal seminiferous tubules, irregularly arranged, with narrowed lumens and reduced numbers of sperm and sperm cells, as well as significantly increased hollow seminiferous tubules with deficient and disorderly arranged spermatogenic cells and partial epithelial degeneration and vacuolization. Those in the LGF and LC groups, however, manifested almost normal testicular histomorphology, with basically regular arrangement of different layers of seminiferous tubules. CONCLUSIONS: ①Ornidazole induces AS in rats by reducing the LC content in the epididymis, while LGF can improve the sperm motility and testicular morphology of the rats and upregulate the expression of OCTN2 mRNA in the epididymis by increasing the LC concentration.

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused by mutations in the TCOF1 gene, which are inherited via an autosomal dominant pattern, while <2% cases are caused by POLR1D and POLR1C genes, which are inherited via autosomal dominant and autosomal recessive patterns, respectively. The present study describes the clinical findings and molecular diagnostics of a Chinese family with TCS. TCS was diagnosed in a 9-year-old female Chinese proband and her mother, while no craniofacial abnormalities were apparent in other family members. Exons of the TCOF1 gene and segregation analysis were used to examine causative mutations using the Sanger sequencing approach. A single novel heterozygous mutation in TCOF1 exon 3 splicing site c.165-1G>A was detected in the proband. Furthermore, the same mutation was identified in her mother, but not in other family members. These results suggest that c.165-1G>A is a novel heterozygous mutation of the TCOF1 gene that caused the development of TCS in the proband and her mother. The TCOF1 mutation that was identified in proband was inherited from her mother and so can be considered as de novo mutation.

[Qiaoshao Prescription improves premature ejaculation in male rats by increasing the content of 5-hydroxytryptamine].

Objective: To observe the intervention effect of Qiaoshao Prescription (QSP) on premature ejaculation (PE) induced by 8-OH-DPAT in male rats and explore its possible action mechanism. METHODS: Seventy-two male Wistar rats were equally randomized into six groups, blank control, PE model control, low-, medium- and high-dose QSP, and dapoxetine. The PE model was established by injection of 8-OH-DPAT into the subarachnoid space of the lumbosacral spinal cord. Four weeks after modeling, the rats in the blank control and PE model control groups with gavaged with normal saline at 10 ml/kg/d, those in the low-, medium- and high-dose QSP groups with QSP at 5, 10 and 20 g/kg/d respectively once a day, and those in the dapoxetine group with dapoxetine hydrochloride at 300 mg/kg at 3 hours before mating. Forty-five female Wistar rats were injected subcutaneously with 20 µg estradiol benzoate after removal of bilateral ovaries to induce estrous estrus. Two and 4 weeks later, the male rats were mated with the female ones for 30 minutes per time and meanwhile observed for the mating behavior of the males, including mounting latency (ML), intromission latency (IL), ejaculation latency (EL), mounting frequency (MF), intromission frequency (IF), and ejaculation frequency (EF). After the 4th week of mating, the hypothalamus of the animals was isolated and weighed, and the content of 5-hydroxytryptamine (5-HT) was measured. RESULTS: Compared with the blank control group, the PE model controls showed significantly decreased content of 5-HT in the hypothalamus(1 257.1 vs 923.4 ng/g, P<0.05), ML (ï¼»11.22 ± 3.60ï¼½ vs ï¼»8.69 ± 2.48ï¼½ s, P<0.05), IL (ï¼»22.33 ± 2.45ï¼½ vs ï¼»12.08±1.39ï¼½ s, P<0.05), MF (ï¼»13.28 ± 3.24ï¼½ vs ï¼»7.53 ± 1.84ï¼½ times, P<0.05), and EL (ï¼»712.35 ± 36.77ï¼½ vs ï¼»502.35 ± 46.72ï¼½ s, P<0.05). In comparison with the PE model controls, the rats of the QSP and dapoxetine groups exhibited remarkably increased content of 5-HT (P<0.05) and prolonged EL (P<0.05). CONCLUSIONS: Qiaoshao Prescription can prolong EL in PE rats, which might be associated with the increased content of 5-HT in the hypothalamus. Further studies, however, are needed on its underlying mechanisms.

[Establishment of a rat model of premature ejaculation with 8-OH-DPAT].

OBJECTIVE: To explore the feasibility and practicability of establishing a rat model of premature ejaculation (PE) by injection of 8-OH-DPAT into the subarachnoid space of the lumbosacral spinal cord segments. METHODS: Twenty-four male Wistar rats were equally randomized into a PE model and a blank control group. The PE model was established by injection of 8-OH-DPAT in 10 ml normal saline at 0.8 mg per kg of the body weight per day into the subarachnoid space of the lumbosacral spinal cord segments and the control rats were injected with the same volume of normal saline only, both for 4 weeks. Another 24 female Wistar rats were injected subcutaneously with benzoic acid estradiol at 20 µg to induce estrus at 36 hours before mated with the male animals. At 2 and 4 weeks, the male rats were mated with the female ones for 30 minutes each time and meanwhile observed for their mating behavior indicators, such as mount latency, intromission latency, ejaculation latency, mount frequency, intromission frequency, and ejaculation frequency. RESULTS: Compared with the controls, the PE model rats showed a significantly lower ejaculation latency (ï¼»712.35 ± 36.77ï¼½ vs ï¼»502.35 ± 46.72ï¼½ s, P<0.05), mount latency (ï¼»11.22 ± 3.60ï¼½ vs ï¼»8.69 ± 2.48ï¼½ s, P<0.05), mount frequency (13.28 ± 0.24 vs 7.53 ± 1.84, P<0.05), and intromission latency (ï¼»22.33 ± 2.45ï¼½ vs ï¼»12.08 ± 1.39ï¼½ s, P<0.05), but a remarkably higher ejaculation frequency (2.01 ± 0.48 vs 4.26 ± 0.89, P<0.05). No statistically significant difference was observed between the control and model animals in the intromission frequency (7.49 ± 2.21 vs 6.45 ± 1.89, P>0.05). CONCLUSIONS: A rat model of premature ejaculation was successfully established by injection of 8-OH-DPAT into the subarachnoid space of the lumbosacral spinal cord segments, which is of great significance for further study of the mechanism of premature ejaculation.

Correlations between hydrochar properties and chemical constitution of orange peel waste during hydrothermal carbonization.

For efficient hydrothermal treatment of biomass, this study aims to figure out the correlations between complex chemical constitution of orange peel (OraPeel) as typical bio-waste and the physicochemical structure of its derived hydrochar, which could be utilized to adjust hydrochar properties for specific applications (e.g., adsorbent, fuel) by regulating respective proportions of each component in bio-waste. Cellulose, hemicellulose and lignin were used as the control variables of feedstocks composition in this work. After hydrothermal process, lignin added feedstock produced more hydrochar, which contained rougher surface with nearly doubled BET areas and more benzene rings. Hemicellulose-aided hydrochar possessed higher density of carbonaceous microspheres and richer hydroxyl. This char was simultaneously covered by more esters or lactones with more aromatic oxygen-containing groups inside. Similar to hemicellulose, cellulose improved the formation of diverse oxygenous groups but reduced the size of microspheres on hydrochar.

[Efficacy and safety of traditional Chinese medicine combined with sildenafil in the treatment of ED in Chinese men： A real-world study].

OBJECTIVE: To make a real-world study on the efficacy and safety of traditional Chinese medicine (TCM) combined with sildenafil in the treatment of erectile dysfunction (ED) that failed to respond to TCM medication. METHODS: This study included 1 038 ED patients with the International Index of Erectile Function-5 (IIEF-5) scores ≤21 and improvement <30% after 4 weeks of TCM medication, differentially diagnosed with kidney-yang or kidney-yin deficiency syndrome. We administered TCM combined with sildenafil (Viagra, Pfizer Pharmaceutical Co., Ltd) at 100 mg 1 hour before sexual intercourse. After 2 and 4 weeks of medication, we recorded the scores in IIEF-5, erection hardness, Sexual Encounter Profile question 2 (SEP-2: whether vaginal penetration is successful), SEP-3 (whether sexual intercourse is successful), and TCM Syndromes Scale as well as the indexes of routine blood, urine, liver function, and renal function of the patients, and compared them with those obtained before treatment. RESULTS: No serious adverse reactions were observed in any of the patients. Compared with the baseline, the patients achieved significantly increased IIEF-5 scores after 2 and 4 weeks of medication (15.01 ± 2.25 vs 16.96 ± 2.55 and 19.41 ± 2.82, P <0.05), penileelectionhardness remarkably improved at 4 weeks (3.36% vs 44.58%, P<0.05), and the positive answers to SEP-2 and SEP-3 both markedly increased at 2 (38.11% vs 90.49%, P<0.05; 22.01% vs 63.77% , P<0.05) and 4 weeks (38.11% vs 96.95% , P<0.05; 22.01% vs 89.73%, P<0.05). CONCLUSIONS: TCM combined with sildenafil is safe and effective in the treatment of ED in Chinese men, which can significantly improve the IIEF-5 score and erection hardness of the patients.

Effects of quercetin on intracavernous pressure and expression of nitrogen synthase isoforms in arterial erectile dysfunction rat model.

OBJECT: Oxidative stress involved in the regulation of arterial erectile dysfunction (A-ED). Previously report have indicated that quercetin have an antioxidant effect. In the current study, we have established the rats' model for study the therapeutic effect of quercetin on A-ED and further investigated the molecular mechanism of action. METHODS: Wistar rats were divided into sham group, A-ED group, A-ED group with low dose of quercetin, and A-ED group with high dose of quercetin. Intracavernous pressure (ICP) and mean arterial pressure (MBp) are two important indicators used for evaluation the A-ED. The changes of ICP and MBp were determined by cavernous nerve electrostimulation after treatment of quercetin at indicated doses. The expression of nitric oxide synthase (NOS) subtypes was detected by RT-PCR and Western blotting. RESULTS: Our results indicated that ICP was significantly reduced in A-ED rats model compared with sham group, and was significantly increased after quercetin treatment (P < 0.01), while no significant effect on the MBp. The data also showed that sGC inhibitor ODQ and NOS inhibitor LNNA can significantly inhibited the ICP which induced by quercetin. These results suggest that NO-cGMP signaling pathway plays a crucial role in A-ED. Then, we found that the mRNA and protein levels of eNOS were significantly reduced in A-ED group compared with sham group. After treated with quercetin may cause the eNOS RNA and protein were significantly up-regulated (P < 0.01), showing a dose-dependent effect. iNOS expression have a certain degree of increased after quercetin treatment. nNOS expression was not significantly increased before and after treated with quercetin. In a word, quercetin can improved the A-ED by up-regulated ICP, which related to up-regulation of NO-cGMP signaling pathway. CONCLUSION: Preliminary results of this study suggested that quercetin protected expression and function of eNOS in cavernous endothelial cells, and restored part of normal function of NO-cGMP pathway in the process of penis erection.

[Clinical observation of acupoint application therapy on senile female bladder neck obstruction].

OBJECTIVE: To observe the clinical efficacy on senile female bladder neck obstruction treated with acupoint application, therapy and western medication. METHODS: Fifty cases of senile female bladder neck observation were randomized into an obstrvation group and a control group, 25 cases in each one. Tamsulosin hydrochloride capsules were taken orally in the two groups, 0.2 mg every night, continuously for 100 days. In the observation group, with radix aconiti lateralis preparata, semen brassicae and fructus ligustri lucidi contained, bushentongyu plaster was used at Shenque (CV 8), Sanyinjiao (SP 6), Pangguangshu (BL 28), Zhongji (CV 3) and Sanjiaoshu (BL 22), once every two days. Eight treatments made one session and 6 sessions were required totally. The international prostate symptom score (IPSS), the bother score (BS), the residual volume (RV) and the maximal urinary flow rate (MFR) were observed before and after treatment in the two groups. The clinical efficacy was compared between the two groups. RESULTS: Every score in IPSS after treatment was reduced apparently as compared with that before treatment in the two groups (all P < 0.01). The improvements in feeling of incomplete, bladder emptying, intermittency < 2 h, urgency, interupted urination and nocturia in the observation group were more advantageous than those in the control group (all P < 0.05). The total effective rate was 95.65% (22/23) in the observation group, higher than 85.71% (18/21) in the control group (P < 0.05). After treatment, RV, MFR and BS were significantly different as compared with those before treatment (all P < 0.05). CONCLUSION: The combined therapy of acupoint application of bushentongyu plaster and oral administration of tamsulosin hydrochloride capsules achieves the significant efficacy on senile female bladder neck obstruction as compared with the simple administration of tamsulosin hydrochloride capsules.

[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].

OBJECTIVE: To analyze the phenotypes and proline-rich transmenbrane protein 2 (PRRT2) gene mutations in patients of infantile convulsions with paroxysmal choreoathetosis (ICCA). METHODS: Clinical data were collected from ICCA patients and their family members. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations of PRRT2 were screened using PCR amplification and Sanger sequencing. RESULTS: Eleven families and one sporadic case with ICCA were recruited in this study. In 11 ICCA families, 49 family members were affected, of which 15 individuals had benign infantile convulsions (BIC) alone, 18 individuals had only paroxysmal kinesigenic dyskinesia(PKD), and 16 individuals had BIC followed by PKD. The seizure onset age of infantile convulsions was between 3 and 12 months. The onset age of PKD was ranging from 5 to 17 years old. Four affected members in two ICCA families had PKD or ICCA co-existing with migraine. The one sporadic ICCA case had afebrile seizures between 3.5 and 4 months, and developed paroxysmal twists of limbs after 3 years and 9 months of age. He had good response to treatment with oxcarbazepine at the age of 4 years and 10 months. PRRT2 mutations were identified in all 11 ICCA families. The most common mutation, c.649_650insC (p.R217PfsX8), was detected in 6 of the 11 families (54.5%). PRRT2 mutation (c.649_650insC) was also found in the sporadic ICCA case, and was identified as de novo mutation. CONCLUSION: The phenotype of PKD in ICCA families occurred in childhood or adolescence. Few affected members in some ICCA families may have migraine. PRRT2 is the causative gene of ICCA and the mutation c.649_650insC was the hotspot of PRRT2 mutations. PRRT2 mutation was also found in sporadic case with ICCA.

[Congenital cholesteatoma of middle ear: 20 patients' clinical symptoms and imaging features].

OBJECTIVE: To investigate the location, staging, clinical symptoms, imaging features, and surgical treatment of the congenital cholesteatoma of middle ear (CCME). METHOD: This was a retrospective review of 20 CCME cases. RESULT: Of 20 cases with CCME, 2 cases were classified as Postic stage I, 0 as stage II, 13 as stage III, 5 as stage IV. Conductive hearing loss was the most common clinical symptom. The mean preoperative PTA was 54.1 dB, and the mean ABG was 41.7 dB. One case underwent a modified mastoidectomy and a second-stage ossicular reconstruction; 2 cases experienced a radical mastoidectomy without ossicular reconsturction for extensive cholesteatoma; 5 cases underwent modified mastoidectomy and a one-stage tympanoplasty, with one case diagnosed as congenital malformation of ossicular chain (stapes hypoplasia); other 12 cases underwent a one-stage tympanoplasty. The cholesteatoma localized to the posterior-epitympanum or mesotympanum in all patients, mainly located in the incudostapedial joint. The mean postoperative PTA from 16 cases was 35.3 dB, and A-B gap was 20.2 dB. All patients were followed-up for at least 1 year after operation and recurrence was found in 2 cases. Three cases were accompanied with congenital malformation of ossicular chain. CONCLUSION: CCME is a rare entity and diagnosis is usually delayed in clinical practice due to the silent nature of disease in its early stage. The prognosis of CCME mainly depended on the stage of the lesions.

[Causal analysis and management strategies of cerebrospinal fluid leakage following translabyrinthine approach for acoustic neuromas].

OBJECTIVE: The purpose of the report was to investigate the causes of CSF leakage and discuss the methods for prevention and management of CSF leakage following translabyrinthine resection of acoustic neuromas. METHODS: A retrospective review of cerebrospinal fluid leakage following translabyrinthine approach for 152 acoustic neuromas patients, from January 1983 to December 2013, was performed. The cases were divided into two groups, traditional and modified closure techniques. The incidence of CSF leakage was compared between the two groups. RESULTS: The incidence of postoperative CSF leakage by translabyrinthine approach was 5.9% (9/152), with four cases of rhinorrhea, two case of wound leakage, one case of rhinorrhea and otorrhea, one case of otorrhea, and one case of rhinorrhea and wound leakage. The CSF leakage incidence of traditional closure technique was 14.3% (5/35); the incidence of modified closure technique was 3.4% (4/117). After introducing a modified closure technique, the incidence of the CSF leakage significantly decreased. CONCLUSIONS: As a common complication of translabyrinthine approach, the incidence of CSF leakage is closely related to the closure technique. The incidence of the CSF leakage should decrease dramatically when adopting the modified closure technique.