A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate,sensorineural hearing loss,and supernumerary flexion creases

We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion creases of the fingers. A novel mutation in CDKN1C (c.579delT; p.A193AfsX46) was found in all affected individuals and their mother. This mutation is located in the central highly polymorphic hexanucleotide repeat encoding a proline‐alanine series of repeats (PAPA‐domain). This domain is involved in MAP kinase phosphorylation. This is for the first time that sensorineural hearing loss and supernumerary flexion creases of the fingers are associated with mutation in CDKN1C. © 2012 Wiley Periodicals, Inc.     

光棒引导经鼻插管在张口困难患者中临床应用

目的:探讨光棒引导经鼻气管插管在张口困难患者中应用的可行性.方法:选择82例口腔颌面外科张口困难(张口度＜2.5 cm)患者,在快诱导麻醉下由光棒引导经鼻气管插管.记录患者麻醉诱导前后、插管过程中和插管后的SBP、DBP和HR.记录插管成功时的插管次数、插管时间及术后24 h并发症发生率.结果:82例患者中,53例(64.6％)一次性插管成功,29例(35.4％)经2～3次插管成功.插管操作时间(75.4-±26.4)s.与诱导前相比,插管时的BP和HR差异无显著性.术后随访2例有轻微咽部不适,1例主诉咽喉疼痛.结论:光棒引导经鼻气管插管对血流动力学影响轻微,口咽部损伤小,成功率高,在张口困难患者中值得推广应用.     

前牙、双尖牙唇（颊）侧面开髓位置的临床研究

目的：了解前牙、双尖牙唇（颊）侧面开髓位置的临床应用的效果.方法：对264例前牙、双尖牙因楔形缺损或唇（颊）龋病并发牙髓炎、尖周炎的患者分为两组,试验组采用唇（颊）侧面位置进行开髓;对照组用传统方式（即舌或牙合面）开髓方法.结果：试验组,抗剪切力大,牙体不易劈折,成功率97.05％,对照组成功率30.40％ （P＜0.05）.结论：前牙、双尖牙唇（颊）侧面开髓位置只是一种针对前牙、双尖牙唇、颊面牙颈部深龋或楔形缺损引起牙髓及根尖感染、需要根管治疗的改进一种新开髓位置的方法,但不适应上颌第一双尖牙.     

Molar bite force and its correlation with signs of temporomandibular dysfunction in mixed and permanent dentition

The aim of the study was to evaluate molar bite force (BF) magnitude and its correlation to the signs of temporomandibular dysfunction (TMD), gender, weight, height and age in 101 students ranging in age from 6 to 18 years (32 boys/21 girls with mixed dentition and 23 boys/25 girls with permanent dentition). TMD clinical signs were evaluated using the Craniomandibular Index (CMI), and two subscales, the Dysfunction Index (DI) and the Palpation Index (PI). BF was determined with a pressurized tube connected to a sensor (MPX5700-Motorola SPS). anova, Tukey's test, and Pearson's and Spearman's coefficients were evaluated. BF was higher in the permanent dentition (P < 0.05). There was no difference in BF between genders within the groups, but boys with permanent dentition had higher values than children with mixed dentition (P < 0.05). The girls with permanent dentition presented negative correlation in BF with PI and CMI (P < 0.05). BF was positively correlated with weight, height and age in the permanent dentition group (P < 0.05). It was concluded that BF increased from mixed to permanent dentition, with an assumed enhancing influence of body variables and ageing. The TMD signs in older girls were correlated to decreasing BF, suggesting an influence of muscle tenderness preventing subjects from exerting maximum BF.     

Efficacy of Maitland joint mobilization technique on pain intensity,mouth opening,functional limitation,kinesiophobia, sleep quality and quality of life in temporomandibular joint dysfunction following bilateral cervicofacial burns

BackgroundBilateral cervicofacial burn contracture initially affects facial expressions and later affects tempero mandibular joint (TMJ) function of the patient. It further tightens the ligaments and capsules around the TMJ and leads to tempero mandibular dysfunction. The consequences of temporomandibular joint dysfunction will be pain, limitation of mouth opening, functional disability and poor quality of life (Qol). However, studies examining the efficacy of Maitland joint mobilization technique in this population are lacking.ObjectivesTo find the short term effects of Maitland joint mobilization technique on pain, mouth opening, functional limitation, kinesiophobia, sleep quality and Quality of life in tempero mandibular joint dysfunction following bilateral cervicofacial burns.MethodsThirty subjects with temporomandibular joint dysfunction following cervicofacial burn (N = 30) were allocated to Maitland joint mobilization group (n = 15) and home based training group (n = 15) randomly to receive Maitland joint mobilization technique and home based training for 4 weeks. All the participants received ultrasound therapy as common treatment. Primary (Numeric Pain Rating Scale – NPRS, maximal mouth opening – MMO & Tempero mandibular disability index – TDI) and secondary (Tampa Scale of Kinesiophobia – TSK-17, Sleep quality questionnaire – SSQ & Global Rating of Change – GRC) outcome measures were measured at baseline, after four weeks and three months follow up. Repeated measures of ANOVA and independent t test were performed for analyzing the dependent variables in both groups.ResultsBaseline demographic characters and study variables show homogenous distribution between the groups (p > 0.05). Four weeks following different training protocols Maitland joint mobilization group shows more significant changes in pain intensity, mouth opening, functional limitation, kinesiophobia, sleep quality and Qol than home based training group (p ≤ 0.05). Also Maitland joint mobilization group show significant improvement in study variables than home based training group (p ≤ 0.05) at three months follow up.ConclusionBoth groups improved over time, however, differences between the groups were noticed small. However, physiotherapy management which includes Maitland joint mobilization technique and therapeutic exercise program has an effective strategy in the treatment of tempero mandibular joint dysfunction following cervicofacial burns.     

State-related electroencephalographic deviances in attention deficit hyperactivity disorder

This study investigated the stability and state-related characteristics of electroencephalographic (EEG) deviances in attention-deficit/hyperactivity disorder (ADHD). Three minutes resting EEG with eyes closed and eyes open were compared between 21 children with ADHD and 29 typically developing children. Across resting conditions, children with ADHD exhibited divergent topographic distribution for theta, alpha and beta power compared to typically developing children. In addition, less alpha and theta suppression to eye opening was found in children with ADHD, but only in those without comorbid ODD/CD. Findings of the present study refer to a consistent divergence in topographic distribution in ADHD across resting state conditions, yet demonstrate that state-related factors and comorbidity may also contribute to resting EEG deviances in ADHD. The state-related findings are in accord with several theoretical accounts emphasizing the role of contextual and state factors defining deficits in ADHD.