BACKGROUNDThe molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family.

METHODSA series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomography scan were performed for each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products of the samples. Moreover, 834 controls with normal hearing were also tested.

RESULTSThe pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation (c.499C>T) was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with hearing loss in this family. No mutation of POU3F4 gene was found in 834 controls.

CONCLUSIONSA nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

Asian Continental Ancestry Group ; Child ; Deafness ; genetics ; Female ; Genetic Predisposition to Disease ; Hearing Loss ; genetics ; Humans ; Male ; Mutation ; genetics ; POU Domain Factors ; genetics ; Pedigree

OBJECTIVETo investigate feasibility and curative effect of superselective arterial embolization for the treatment of massive haemorrhage from pelvic fracture.

METHODSFrom March 2008 to February 2016, clinical data of 65 patients with massive haemorrhage from pelvic fracture were collected and analyzed, and patients were divided into non-embolic and embolic group according to whether perform vascular thrombosis. Thirty-three patients were in non-embolic group including 26 males and 7 females aged from 21 to 64 years old with an average of(39.2±5.7) years old, the time from injury to operation ranged from 1.1 to 4.8 h with an average of (2.2±0.4) h; 12 cases were type B and 21 cases were type C according to AO/Tile classification; injury severity score (ISS) ranged from 25 to 42 with an average of (37.7±7.5); shock index score ranged from 1.7 to 2.4 with an average of 2.1±0.3; treated with blood transfusion and fluid infusion. Thirty-two patients in embolic group, including 25 males and 7 females aged from 22 to 65 years old with an average of(38.1±4.5) years old; the time from injury to operation ranged from 1.2 to 4.8 h with an average of (2.1± 0.5) h; 14 cases were type B and 18 cases were type C according to AO/Tile classification; ISS ranged from 26 to 43 with an average of 38.9±4.5; shock index score ranged from 1.6 to 2.4 with an average of 2.2±0.2; treated by blood transfusion and fluid infusion with superselective arterial embolization. Blood transfusion volume, fluid infusion volume, shock correction time and survival rate were observed and compared, effective rate of hemostasis and postoperative complications were compared.

RESULTSThirty-seven artery were injured in embolic group, hemostasis were controlled at 3 h after operation, and hemodynamics turned to stable. There were significant difference in blood transfusion volume, fluid infusion volume, shock correction time between non-embolic and embolic group, and embolic group performed better. Survival rate in embolic group was also better than that of non-embolic group, and had significant difference. While there was obvious differences in complications(χ²=4.03,=0.045).

CONCLUSIONSSuperselective arterial embolization for massive haemorrhage from pelvic fracture could effective hemostasis, reduce blood transfusion and fluid infusion volume and occurrence rate of shock, moreover improve survival rate and deserves promotion.

Adult ; Coronary Restenosis ; surgery ; Drug-Eluting Stents ; Humans ; Male ; Sirolimus ; therapeutic use

OBJECTIVETo study clinical effects of a new internal fixation by using a cable through the bone and Kirschner with a hole in the tail, for the treatment of patellar fractures.

METHODSFrom May 2012 to July 2013, thirty-four patients with patellar fractures were treated with cable through the bone and Kirschner with a hole in the tail. All the patients had close fracture,including 12 transverse fractures and 22 comminuted fractures. There were 18 males and 16 females, ranging in age from 26 to 81 years old, with an average of (46.0 ± 3.0) years old. After open reduction, two appropriate length of Kirschner with a hole in the tail were driven into the patella as perpendicular to the fracture line or the major fragments as possible. A transverse bone tunnel was then drilled with a Kirschner at one side of the patella. Then the cable, which was successively pulled through the bone tunnel and the hole of Kirschner, was crossed in a figure-eight over the anterior of the patella, tightened and fixated by special instruments. The Kirschner was clipped off on the edge of the hole. If it was a comminuted fracture, another cable was used to fasten the patella with cerclage. Postoperative evaluation was based on Bostman.

RESULTSAll the patients were followed up, and the duration ranged from 12 to 26 months, with a mean of (16.0 ± 2.0) months. Fractures healed in all the cases without such complications as infection, loosening of Kirschner and cable loop, and skin irritation. According to the Böstman score system, 33 cases got an excellent result, and 1 good.

CONCLUSIONThe cable through the bone and Kirschner with a hole in the tail is a simple, stable and effective method for the treatment of patellar fractures, especially the transverse fractures, with earlier knee exercise and fewer complications.

Adult ; Aged ; Aged, 80 and over ; Bone Wires ; Female ; Follow-Up Studies ; Fracture Fixation, Internal ; instrumentation ; methods ; Fractures, Bone ; surgery ; Humans ; Male ; Middle Aged ; Patella ; injuries ; surgery ; Treatment Outcome ; Young Adult

BACKGROUNDFirst generation drug-eluting stents (DESs) were based on 316L stainless steel and coated with a permanent polymer. The vessel wall of these DESs was inflammatory and late in-stent thrombosis was reported. Hence, cobalt chromium based DES coated with a bioabsorbable polymer was an alternate choice.

METHODSCobalt chromium based DES with bioabsorbable polymer (Simrex stent) as well as control stents (Polymer stent and EXCEL(TM) stent) were implanted into porcine arteries. At a designated time, angiography, quantitative coronary angiography (QCA) analysis, histomorphometry, and electron-microscopical follow-up were performed.

RESULTSA total of 98 stents of all the three groups were harvested. At week 24, percent diameter stenosis (%DS), late loss (LL), and percent area stenosis (%AS) of Simrex was (12.9 ± 0.4)%, (0.35 ± 0.02) mm, and (24.5 ± 4.2)%, respectively, without significant difference in comparison to commercialized EXCEL(TM) stent. Slight inflammatory reaction was seen around the stent strut of Simrex, just as in the other two groups. Electron-microscopical follow-up suggested that it might take 4 - 12 weeks for Simrex to complete its re-endothelialization process.

CONCLUSIONSCobalt chromium based, bioabsorbable polymer coated sirolimus-eluting stent showed excellent biocompatibility. During 24 weeks observation in porcine model, it was proved that this novel DES system successfully inhibited neointima hyperplasia and decreased in-stent stenosis. It is feasible to launch a clinical evaluation to improve the current prognosis of DES implantation.

Angioplasty, Balloon, Coronary ; Animals ; Chromium Alloys ; administration & dosage ; Coronary Angiography ; Drug-Eluting Stents ; adverse effects ; Polymers ; administration & dosage ; Sirolimus ; administration & dosage ; Swine ; Swine, Miniature

OBJECTIVETo compare the curative effects of newly suture anchors and traditional steel wire for the reconstruction of near distal tendo achillis rupture.

METHODSThe clinical data of 56 patients with near distal tendo achillis rupture from June 2007 to February 2011 were retrospectively analyzed. Among 31 patients receiving reconstruction by suture anchors, 22 patients were male and 9 patients were female, with a mean age of 35.5 years (ranging from 16 to 52 years ). Among 25 patients treated with traditional steel wire, 19 patients were male and 6 patients were female, with a mean age of 37.6 years (ranging from 22 to 53 years). The different rehabilitation was conducted for every patient at different times after operation. The position of suture anchor and steel wire were recorded. The clinical data such as operative time, complications of the surgery and the function of stendo achillis were analyzed. The healing of stendo achillis and functional recovery were assessed by Arner-Lindholm standard.

RESULTSAll the patients were followed up with an average during of 24.2 months. There were no intraoperative injuries on blood vessels, nerve and tendon. The average operative time and postoperative complications of suture anchors were lower than there of the traditional steel wire (t = 8.75, P = 0.00; Chi2 = 5.42, P = 0.02). The functional recovery of tendo achillis repaired by suture anchors was better than that in the group of traditional steel wire (Chi2 = 7.65, P = 0.02).

CONCLUSIONCompared to the traditional steel wire, suture anchor demonstrate the superior performance on repairing rupture of the near distal tendo achillis, which is a reliable and effective treatment methods.

Achilles Tendon ; diagnostic imaging ; injuries ; surgery ; Adolescent ; Adult ; Bone Wires ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Radiography ; Reconstructive Surgical Procedures ; methods ; Retrospective Studies ; Rupture ; surgery ; Suture Anchors

OBJECTIVETo evaluate the safety and accuracy of "funnel technique" in planting thoracic pedicle screws.

METHODSFrom August 2005 to March 2008, a total of 39 patients with at least one thoracic pedicle screw in T1-T10 using "funnel technique" were retrospectively reviewed. Among the patients, 27 patients were male and 14 patients were female, with a mean age of 38.5 years (ranged from 17 to 56 years). One patient was lost follow-up, and other 1 patient was dead before follow-up. The accuracy of screw placement and the complications related to thoracic pedicle screws were analyzed by postoperative CT-scans.

RESULTSAll the patients were followed up ranging from 18 to 30 months, averaged 23.2 months. There were no vascular or viscera complications as well as iatrogenic neurologic injuries. The total number of screws was 208. There was no statistical difference between the percentage of fully contained screws at T1-T4 versus T5-T8 (P = 0.80),T5-T8 versus T9-T10 (P = 0.07), T1-T4 versus T9-T10 (P = 0.06). Twenty-seven screws (13.0%) were misplaced, 14 screws (6.7%) violated lateral cortex of pedicle, 7 screws (3.4%) medially, 5 screws (2.4%) superiorly, 1 screw (0.5%) violated lateral cortex of vertebral body. No violations occurred superiorly or anteriorly. Only 4 screws (1.9%) was a critical perforation.

CONCLUSIONThe "funnel technique" is a simple, safe, accurate and cost-effective technique for pedicle screw placement. It provides even an entry-level surgeon with a safe way to identify and place thoracic pedicle screws.

Adolescent ; Adult ; Bone Screws ; Female ; Humans ; Male ; Middle Aged ; Orthopedic Procedures ; methods ; Retrospective Studies ; Spinal Diseases ; surgery ; Thoracic Vertebrae ; surgery

OBJECTIVETo investigate the techniques and curative effects of transcatheter artery embolization (TAE) for massive bleeding due to pelvic fractures.

METHODSThe clinical data of 92 patients with haemorrhage due to pelvic fractures from March 1998 to February 2008 were retrospectively analyzed. Among 53 patients treated conservatively such as massive transfusion and fluid infusion in the control group, 43 patients were male and 10 patients were female, ranging in age from 27 to 61 years, averaged (37.2 +/- 5.7) years. Among 39 patients who were hemodynamically unstable or had evidences of ongoing hemorrhage required TAE, 26 patients were male and 13 patients were female, ranging in age from 26 to 62 years, with a mean age of (35.3 +/- 9.5) years. The clinical date such as blood or fluid transfusion volume, shock redress time and survival rate were compared between the two groups. The hemostatic efficiency and complications of the surgery were also analyzed.

RESULTSThe average hemostasis time of TAE group was 2 hours. There were no intraoperative injuries of blood vessels, nerve or vital organs. Three patients had lower limbs numbness and 5 patients had gluteal skin redness after the operation. The blood transfusion or fluid infusion volume, shock redress time and survival rate were all significantly better than those in the conservative group.

CONCLUSIONSTAE is an early,rapid and effective method in controlling haemorrhage due to pelvic fractures.

Adult ; Case-Control Studies ; Embolization, Therapeutic ; methods ; Female ; Fractures, Bone ; complications ; therapy ; Hemorrhage ; therapy ; Humans ; Male ; Middle Aged ; Pelvic Bones ; injuries

OBJECTIVETo investigate the techniques and therapeutic effects of suture anchors for the reconstruction of distal tendo achillis rupture.

METHODSThe clinical data of 16 patients of distal tendo achillis rupture repaired with suture anchors from June 2005 to August 2008 were retrospectively analyzed. Among them, there were 13 males and 3 females with a mean age of 33.5 years (ranged from 17 to 46 years). The postoperative rehabilitation was conducted for every patient. The operation time, position of suture anchor and complications of the surgery were analyzed. The healing of stendo achillis and functional recovery were assessed by Arner-Lindholm standard.

RESULTSAll the patients were followed up for an average of 13.2 months. There were no complications of foreign-body reaction or re-rupture. The average operation time was 35.5 minute. There was no intraoperative injuries of blood vessels, nerves or tendons. A total of 19 suture anchors were used, and only 1 anchor was displaced. The functional recovery of tendo achillis was rated as excellent in 13 cases,good in 2 cases, bad in 1 case. All patients were satisfied with the effects on their current work and life. And no displacement of anchors was found in radiographic films.

CONCLUSIONRepairing of the distal tendo achillis rupture with suture anchors can make operation simple and quick, rigid fixation, less complications, and provide good therapeutic effects.

Adolescent ; Adult ; Female ; Foreign-Body Reaction ; etiology ; Humans ; Male ; Middle Aged ; Reconstructive Surgical Procedures ; instrumentation ; methods ; Retrospective Studies ; Suture Anchors ; Tendon Injuries ; complications ; immunology ; surgery ; Tenodesis ; instrumentation ; methods ; Treatment Outcome ; Young Adult

Objective To study the effect of propofol used for outpatient painless enteroscope on cognitive function.Methods One hundred and twenty ASAⅠ~Ⅱpatients scheduled for enteroscope were randomly divided into three groups .Propofol was given 1.5mg/kg(groupⅠ), 2mg /kg (group Ⅱ) or 2.5 mg/kg ( group Ⅲ) intravenously .The enteroscope was inserted when patient showed unconsciousness and no reaction to dictation .SpO2 was kept above 95%96% throughout enteroscope .All patients received neurobehavioral cognitive status examination ( NCSE ) and mini-mental state examination ( MMSE ) test 1 hour before enteroscope examination and 5 minutes,30 minutes, 1 hour after enteroscope examination was o-ver and must finish it within 15 min.The enteroscope examination time , vital signs, analgesia effects and intraoperative awareness were record .Results The ability of memory and calculation at 5 minutes after en-teroscope examination showed a statistical difference between group Ⅰ and ⅡorⅢ( P <0.05),there was no significant difference between in group II and in group Ⅲ( P >0.05 ) , The ability of memory and calcu-lation at 30 minutes, 1 hour after enteroscope examination there was no significant difference in three groups ( P >0.05 ) .In all patients ,the MMSE scores at 5 minutes after enteroscope examination were significant-ly lower than the baseline value ( P <0.05).The MMSE scores at 30 minutes, 1 hour after enteroscope examination in Ⅲgroup patients were significantly lower than the baseline value ( P <0.05 ) .The MMSE scores at 30 minutes, 1 hour after enteroscope examination in I group patients were significantly higher than that inⅡor Ⅲgroup( P <0.05).The MMSE scores at 30 minutes, 1 hour after enteroscope examination there was no significant difference between in group II and in group Ⅲ( P >0.05 ) .The NCSE and MMSE scores at 3hour, 12 hour after enteroscope examination there was no significant difference between in group I and II or Ⅲ( P >0.05).Conclusion Propofol 1.5mg/kg used for painless enteroscope examination has no effect on cognitive function .MMSE and NCSE are suitable for evaluation of outpatient's cognitive func-tion.