OBJECTIVE: To assess the evaluation on auditory rehabilitation effect for 42 deaf children with GJB2 gene mutation after cochlear implantation to provide a reference for the cochlear implant effect evaluation of such patients. METHOD: To conduct the detection on common genetic deafness gene mutation hotspots of hearing impaired children with cochlear implantation. To conduct auditory rehabilitation effect evaluation on 42 cases of patients with GJB2 genetic deafness after 3 months, 6 months and 12 months of the operation respectively. The single factor repeated measure ANOVA was applied to analyze whether there were significant difference among the results of initial consonant of a Chinese syllable recognition at 3 different stages after the operation, the results of vowel of a Chinese syllable recognition at 3 different stages after the operation, and the results of two-syllable recognition at 3 different stages after the operation. RESULT: 235delC is the high-incidence mutational site in 42 cases of patients with GJB2 genetic deafness, the total detection rate is up to 90.48%. There were significant differences in the initial consonant of a Chinese syllable recognition rate, the vowel of a Chinese syllable recognition rate, the two-syllable recognition rate as well as the vowel of a Chinese syllable recognition rate after 3 months, 6 months and 12 months of the operation (P < 0.01). CONCLUSION Cochlear implantation is a safe and effective measure for auditory reconstruction, it can help patients with GJB2 hereditary severe sensorineural deafness to improve auditory speech recognition.
Asian Continental Ancestry Group ; Child ; Cochlear Implantation ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; rehabilitation ; Hearing Loss, Sensorineural ; genetics ; rehabilitation ; Humans ; Language ; Mutation

BACKGROUND:The enamel matrix derivative has been used in the clinical treatment of severe periodontitis; however, the mechanism(s) by which enamel matrix derivative promotes periodontal regeneration is stil obscure. OBJECTIVE:To explore the effects of enamel matrix derivatives on the differentiation and proliferation of periodontal ligament stem cels. METHODS:Periodontal ligament stem cels were isolated and identified from human teeth. Cloning forming efficiency, surface antigen expression and pluripotency were detected and identified. Enamel matrix derivatives with different concentrations (20, 50, 100 mg/L) were used to culture periodontal ligament stem cels for 2 and 4 weeks. Colagen synthesis and mineralized nodule formation were detected using Trichrom staining and Von Kosa’s staining, respectively; real-time RT-PCR was employed to detect expressions of colagen type I, osteocalcin, and RUX2; MTT and cel growth rate assay were used to detect the proliferation of periodontal ligament stem cels. RESULTS AND CONCLUSION:Periodontal ligament stem cels were spindle-shaped and showed a higher colony forming efficiency than periodontal ligament cels. The expressions of surface antigens of periodontal ligament stem cels-CD105, CD29, CD45, CD44 were respectively 99.8%, 99.7%, 1.26%, 98.8%, indicating periodontal ligament stem cels have the multilineage differentiation potential. Enamel matrix derivatives improve the colagen synthesis and mineralization nodule formation of periodontal ligament stem cels in a time-dose dependent manner. They also can improve the expression of osteogensis-related genes colagen type I, osteocalcin, RUX2 and proliferation of periodontal ligament stem cels.

Objective:This study investigates the significance of human papilloma virus (HPV) subtype detection in opportunis-tic screening for cervical cancer in Uygur and Han women. Methods:Flow-through hybridization gene chip and thin-prep cytology test were used to detect HPV in cervical cell samples from 1140 females. A total of 428 patients had undergone cervical biopsies through colposcopy. The diagnostic results of the HPV subtype test for cervical lesions were evaluated on the basis of histology. Results:Total HPV infection rate for the 1140 cervical samples was 30.3%. The most common HPV subtypes were HPV16, HPV58, HPV52, HPV18, and HPV45. HPV52 infection rate was higher in Han women than in Uygur women, with statistically significant differences between the two (χ2=8.737, P=0.003). Among these cervical samples, the single HPV infection rate was 22.4%(255/1140), whereas the multiple HPV infection rate was 6.1% (69/1140). The sensitivity and specificity of the HPV subtype test for cervical lesions were 86.4% and 24.5%, respectively. The positive and negative predictive values were 58.5%and 59.3%. Conclusion:HPV infection subtypes in Ugyur and Han women have unique characteristics. Subtype detection is important in opportunistic screening for cervical cancer.

Background Retinal retinoic acid (RA) plays an important role in the formation of the lensinduced myopia.However,it is not clear how RA transfer the myopic signal to choroid throughout the retinal pigment epithelium (RPE) barrier.Objective The aim of this study was to investigate the effect of all-trans retinoic acid (atRA) on the barrier of RPE in lens-induced myopic eye of guinea pig.Methods Thirty left eyes of 30 21-dayold clean guinea pigs were randomized into normal control group and the model group.The models of out of focus were induced by covering of-6.00 D concave lens on the left eyes for 15 days.Radius of corneal curvature was measured using corneal curvimeter,and diopeter of the guinea pig was examined by mydriatic optometry.The length of ocular axis was detected by A-sonography.The animals were sacrificed and the retinas of the left eyes were isolated for the culture and passage of RPE cells.The third generation of cells were incubated Millcell-PET microporous film,and atRA at the concentration of 1 × 10-6,1 × 10-7,1 × 10-8 and 1 × 10-9 mol/L was added to the micropore respectively for 12 hours,and the micropores with equal-solvent served as negative control group.Methyl thiazolyl tetrazolium (MTT)colorimetric method was used to detect the survival rate of the cells.Subsequently,the transepithelial electrical resistance (TER) of the monolayer cells was determined with CN10-EVOM2 resistance measuring meter.The vesicular transport change of RPE membrane in different groups was evaluated by FM1-43 fluorescence staining.Results The mean diopter was (-2.20±0.95) D in the models,and that in the controls was (+ 1.15 ±0.30) D,with a significant difference between them (t =14.57,P＜ 0.01).The axial length was (8.24 ± 0.09) mm in the models and it was significantly longer than (7.81±0.05) mm in the controls (t=17.20,P＜0.01).RPE cells grew well to form a monolayer in Millcell culture pool after one week.After 24 hours of the atRA treatment,the survival rate of RPE cells reduced gradually with the increase of atRA concentration with the highest rate in the 1 × 10-9 mol/L atRA group (93.3 ％) and followed by the 1 × 10-8 mol/L atRA group (88.2％).More than half of the cells dead in the 1 × 10-6mol/L and 1 × 10-7mol/L atRA groups (53.8％ and 47.1％).Significant differences in the TER value and fluorescence staining intensity of the cells were seen among the various groups (F =43.89,P =0.00 ; F =26.13,P =0.00),with the maximal values in the 1 × 10-8mol/L atRA group.The FM1-43 fluorescence located on the cellular membrane and cytoplasm.Conclusions AtRA can increase the functional state of tight junction and vesicular transport,which regulated the RPE cell barrier in the guinea pig.

OBJECTIVE The aim was to explore the clinical experiences and access the auditory performance and speech intelligibility of cochlear implantation in patients with inner ear malformations. METHODS Among 700 patients who received multi-channel cochlear implantation from 1997 to 2007 in Beijing Tongren Hospital, 108 patients were diagnosed with malformed inner ear. A retrospective study was performed about the surgical characteristics and the mapping characteristics after implantation. The long term follow-up of the rehabilitative efficacy will also be presented. RESULTS ①All patients restituted auditory after operation. ②After the regular rehabilitation, the long term follow-up of the auditory performance and speech intelligibility were very positive. Everyone has shown improved listening and communication skills evaluated by Categories of Auditory Performance and Speech Intelligibility Rating. ③Most of the children are studying or working and are actively involved in their local communities. CONCLUSION The cochlear implantation can be performed safely in patients with malformed inner ear. The results suggest that cochlear implantation could also provides long-term benefits to those malformed inner ear cases.

Objective To explore the clinical efficacy and side effects of Q 532 laser in the treatment of recurrent café-au-lait spots.Methods Collection period was from January 2018 to January 2019.Fifty-five patients with recurrent café-au-lait spots after 2-3 times of Q-switched 755 laser treatment were selected and then treated with Q-switched 532 laser.Treatment was given once every 3-6 months.The appropriate treatment parameters were selected according to the patient's condition.The effects of age,gender,size,morphology and margin of the lesion on the treatment were observed.Results Among the 55 patients treated with Q 532 laser after 2 to 5 treatments,19 cases were cured,13 cases markedly effective,15 cases moderately effective,8 cases invalid with a total effective rate of 85 ％.Conclusions Q 532 laser is an effective and safe treatment for recurrent Café-au-lait spots.

AIM: To study caspase-9 expression on rat retina in the process of chronic elevation of IOP and the changes with the application of amino guanidine (AG), thus to investigate potential protective function of AG to rat retina with chronic elevation of IOP.METHODS: Immunohistochemistry, RT-PCR and Western blot were used to observe retinal morphology and expression of caspase-9 at different time points of rat with chronic IOP elevation, both affected or not affected by the application of AG.RESULTS: Compared with control group, as time passed retina of experimental group gradually had detectable morphological changes. On 21st day of chronic IOP elevation, retinas became thinner and the quantity of retinal ganglion cells (RGCs) decreased; caspase-9 expression increased, consistent with the morphological changes. The group using AG presented relatively smaller morphology changes and less expression of caspase-9.CONCLUSION: Apoptosis-related gene caspase-9 played a part in the process of chronic IOP elevation; AG protects retina by down-regulating expression of caspase-9.

OBJECTIVETo investigate the expression of cAMP-dependent protein kinase inhibitor beta (PKIB) in colorectal carcinoma (CRC) and its association with the clinicopathological factors of the patients.

METHODSThe expression of PKIB mRNA was detected with quantitative real-time PCR in 34 CRC tissues and paired adjacent tissues. Immunohistochemistry was used to detect the expression of PKIB protein in 72 CRC tissue specimens, and the relationship between PKIB protein expression and the clinicopathological features of the patients was analyzed.

RESULTSThe expression of PKIB mRNA was significantly higher in CRC tissues than in the paired asjacent tissues (P<0.0001). The expression of PKIB protein in CRC patients was closely related with tumor infiltration (T stage) (P=0.038) but not with age, gender, tumor size, location, lymph node metastasis (N stage) or distant metastasis (M stage) (P>0.05). The survival time of patients with high PKIB expressions was significantly shorter than that of patients with low PKIB expressions (70.532∓6.190 vs 93.500∓5.847 months, P=0.023).

CONCLUSIONA high expression of PKIB in CRC is positively correlated with tumor infiltration (T stage) and a poor prognosis, suggesting an important role of PKIB in the development of CRC and its value as an indicator for prognostic evaluation of CRC patients.

OBJECTIVETo investigate the clinical efficacy and safety of modified stapled transanal rectal resection (STARR) combined with perioperative pelvic floor biofeedback therapy (POPFBFT) in treating obstructed defecation syndrome (ODS).

METHODSThirty female ODS patients underwent modified STARR (resection and suture was performed in rectocele with one staple) combined with POPFBFT in Department of Colorectal and Anal Surgery, The First Hospital of Jilin university from October 2013 to March 2015. Before the modified STARR, patients received a course of POPFBFT (20 min/time, 2 times/d, 10 times as a course), and another 2 courses were carried out in clinic after discharge. Efficacy evaluation included general conditions of patients, morbidity of postoperative complication, overall subjective satisfaction (excellent: without any symptoms; good: 1 to 2 times of laxatives per month and without the need of any other auxiliary defecation; fairly good: more than 3 times of laxatives per month ; poor: with no improvement; excellent, good, fairly good are defined as effective), Longo ODS score (range 0 to 40 points, the higher the score, the more severe the symptoms), gastrointestinal quality of life index(GIQLI)(range 0 to 144 points, the lower the score, the more severe the symptoms), anorectal manometry and defecography examination. The follow-up lasted 12 months after operation (ended at April 2016).

RESULTSAverage age of 30 patients was 57(46 to 72) years and Longo ODS score of every patient was ≥9 before operation. The modified STARR was completed successfully in all the 30 patients with average operation time of 25 (18 to 34) min and average hospital stay of 6(4 to 9) d. Postoperative complications included pain(20%, 6/30), urinary retention (16.7%, 5/30), anorectal heaviness (6.7%, 2/30), and fecal urgency(26.7%, 8/30). Anaorectal heaviness and fecal urgency disappeared within 3 months. No severe complications, such as postoperative bleeding, infection, rectovaginal fistula, anastomotic dehiscence and anal incontinence were observed. The effective rate of overall subjective satisfaction was 93.3%(28/30) during the follow-up of 12 months. There was no significant difference in Longo ODS score between pre- POPFBFT and pre-operation (pre- POPFBFT: 32.95±3.22, pre-operation: 32.85±3.62, t=1.472, P=0.163). Compared with pre-POPFBFT, Longo ODS score at 1 week after operation decreased (t=4.306, P=0.000), moreover, score at 1 month after operation was lower than that at 1 week (13.05±7.49 vs. 15.00±7.17, t=7.322, P=0.000), while no significant differences were found among 1, 3, 6, 12 months after operation (F=2.111, P=0.107). Likewise, there was no significant difference in GIQLI score between pre-POPFBFT and pre-operation (pre-POPFBFT: 79.39±17.14, pre-operation: 76.65±17.56, t=1.735, P=0.096). Compared with the pre-POPFBFT, GIQLI score at 1 week after operation increased (t=4.714, P=0.000), moreover, GIQLI score at 1 month after operation was higher than that at 1 week (102.26±19.24 vs 91.31±21.35, t=5.628, P=0.000), while no significant differences were found among 1, 3, 6, 12 months after operation(F=1.211, P=0.313). In comparison with pre- POPFBFT, parameters of defecography examination at 12 months after operation showed obvious improvement: the rectocele decreased from (34.1±0.4) mm to (3.1±0.3) mm (t=6.847, P=0.000), anorectal angle during defecation increased from (123.8±6.7)degree to (134.7±8.5)degree, enlargement of anorectal angle during defecation increased from (29.1±3.5)degree to (37.1±5.3)degree, while no significant differences in descend of perineum, anorectal angles at rest as well as parameters of anorectal manometry were found (all P>0.05).

CONCLUSIONModified STARR combined with POPFBFT is safe and effective for ODS patients.

Aged ; Anal Canal ; surgery ; Biofeedback, Psychology ; physiology ; Constipation ; rehabilitation ; surgery ; Defecation ; Defecography ; Digestive System Surgical Procedures ; methods ; rehabilitation ; Female ; Humans ; Length of Stay ; Middle Aged ; Operative Time ; Pain, Postoperative ; etiology ; Pelvic Floor ; physiology ; Postoperative Complications ; Quality of Life ; Rectocele ; Surgical Stapling ; Suture Techniques ; Treatment Outcome ; Urinary Retention ; etiology

AIMTo clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.

METHODOLOGYMutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.

RESULTSFour novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T).

CONCLUSIONOur findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.

Adolescent ; Adult ; Amino Acid Sequence ; Basal Cell Nevus Syndrome ; genetics ; Chromatography, High Pressure Liquid ; Codon, Nonsense ; genetics ; Codon, Terminator ; genetics ; Conserved Sequence ; genetics ; Cytosine ; Exons ; genetics ; Female ; Frameshift Mutation ; genetics ; Gene Duplication ; Germ-Line Mutation ; genetics ; Guanine ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Mutation, Missense ; genetics ; Odontogenic Tumors ; genetics ; Patched Receptors ; Patched-1 Receptor ; Receptors, Cell Surface ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Deletion ; genetics ; Syndrome ; Threonine ; genetics ; Thymine