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Autism spectrum disorder (ASD) is a heterogeneous group of complex neurodevelopmental disorders without a unique or definite underlying pathogenesis. Although savant syndrome is common in ASD, few models are available for studying the molecular and cellular mechanisms of this syndrome. In this study, we generated urinary induced pluripotent stem cells (UiPSCs) from a 13-year-old male autistic savant with exceptional memory. The UiPSC-derived neurons of the autistic savant exhibited upregulated expression levels of ASD genes/learning difficulty-related genes, namely PAX6, TBR1 and FOXP2, accompanied by hypertrophic neural somas, enlarged spines, reduced spine density, and an increased frequency of spontaneous excitatory postsynaptic currents. Although this study involved only a single patient and a single control because of the rarity of such cases, it provides the first autistic savant UiPSC model that elucidates the potential cellular mechanisms underlying the condition.

Purpose The soft tissue healing patterns of mandibular intracapsular condylar fracture (ICF) after closed treatment have not been well characterized. The purpose of the present study was to classify the injury and healing patterns in adult patients using magnetic resonance imaging (MRI) evaluation. Patients and Methods The present study represents a retrospective review of MRI examinations performed on patients treated with closed reduction of an ICF from 2010 to 2013. The MRI scans used for comparison were taken at 1 week and at least 3 months after the injury. These studies were used to identify the common patterns of hard and soft tissue derangements. The predictor variable was the type of soft tissue injuries, categorized as anteromedial displacement of both the disc and the fractured bony fragment, anteromedial displacement of the bony fragment with the disc remaining over the residual ramus, tear of the retrodiscal tissue or capsule, and joint effusion. The outcome variables were the MRI comparisons of the disc position, healing status of the retrodiscal tissue and capsule, and resolution of joint effusions. Results Twelve patients, all with ICFs, were included in the present study. Immediately after injury, all 17 fractures (100%) showed anteromedial displacement of both the disc and the fractured condylar fragment, and 10 fractures (58.8%) showed anteromedial displacement of the condylar fragment with the disc remaining over the residual condyle. Also, 11 (64.7%) showed evidence of perforation of the retrodiscal tissue, and 7 (41.2%) showed tears in the capsule. Finally, all 17 (100%) exhibited joint effusions. At 3 months after injury, all 17 fractures (100%) continued to exhibit displacement of both the disc and the condylar segments. Also, 15 fractures (88.2%) showed elongation of the disc and thickening of the retrodiscal tissue, 2 fractures (11.8%) had developed osteoid hyperplasia and meniscal perforation, and 6 fractures (35.3%) showed resolution of previous joint effusions. Finally, 17 fractures (100%) showed reactive bone formation at the condylar head. Conclusions ICFs treated with closed reduction consistently result in a specific pattern of temporomandibular joint pathologic features. These pathologic features are characterized by anteromedial displacement of the articular disc, elongation and thickening of the retrodiscal tissue, and reactive bone formation at the condylar head. The presence of a portion of the disc between the residual condyle and the fossa prevented the development of osteoarthritis and ankylosis. Perforation of the bilaminar tissue and contact between the residual condyle and the fossa promoted osteoarthritic changes and ankylosis.

Temporomandibular joint (TMJ) ankylosis in growing patients can cause both mouth opening limitation and jaw bone deformity. Lateral arthroplasty (LAP) can restore the medially displaced condyle and thus keep its growth potential. But can the condyle grow as normal is unknown. This study was to evaluate the long-term result after LAP in growing children. Patients from 2010 to 2014 were evaluated. Their CT data within 1 week after operation and during at least 1-year follow-ups were measured by ProPlan CMF 1.4 software. The condyle-ramus length of both sides and angles and the chin deviation before and after operation were compared. SPSS 17.0 software was used for statistical analysis. A total of 9 patients with a mean age of 10.2 years were included in the study. The mean follow-up period was 1.94 years. The mean condyle-ramus growth was 2.90 mm in the affected side and 2.50 mm in the unaffected side (P = 0.31). All of the affected side exhibited growth and remodeling of the condyle and ramus. All 9 cases had a mean chin deviation of 3.69 mm before operation and 2.92 mm during follow-ups (P = 0.16). The residual condyle grows after LAP, which can reduce the gravity of jawbone deformity.

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease worldwide, leading to progressive muscle atrophy and paralysis. The limited success of conventional treatment for ALS has prompted investigations into complementary and alternative therapies. Herbal remedies provide good prospects of ALS prevention and treatment, with advantages such as multiple targets, multiple links, and few side effects. Studies in vitro and in vivo have shown that herbs have a great potential for treatment of ALS, with therapeutic effects against oxidative stress, excitatory amino acid toxicity, neuroinflammation, and calcium cytotoxicity. Active monomers or ingredients extracted from herbs are considered promising candidates for ALS. Therefore, we review recent experimental research on monomers and compounds isolated from herbal remedies for preventing and treating ALS.

Acute traumatic temporomandibular joint disc displacement (ATDD) and its sequelae are not familiar for most surgeons. This study is to discuss its sequelae in cases without disc reduction after failed conservative treatment. From 2010 to 2015, 26 patients with 34 joints were included in the study. All patients had at least 3 months conservative treatment. Their maximal incisor opening (MIO) was measured during follow-ups and MRI examination was used to check the condylar bone degeneration. The mean follow-up for conservative treatment after admission was 8.69 months, the patients reached an average of 25.7 mm MIO. MRI showed condylar bone intact in 8 joints (23.5%), condylar surface bone destruction (Wilks IV, V stages) in 14 joints (41.2%), and severe bone resorption in 12 joints (35.3%). 15 patients with 23 joints were asked for surgical treatment after a mean conservative treatment of 5.4 months (3–12 months) to improve mouth opening and relieve chronic pain. 12 joints had total joint replacement (TJR). 11 joints had disc repositioning. Their mean MIO before operation was 19.8 mm and significantly improved to 33.9 mm after operation (p = 0.0000). ATDD may cause severe osteoarthritis or ankylosis. Disc repositioning and TJR could significantly improve MIO.

Purpose We report a surgical method for the treatment of traumatic temporomandibular joint (TMJ) ankylosis with a medially displaced residual condyle and compare the long-term results with those obtained using different interpositional materials. Patients and Methods From 2001 to 2009, 60 patients and 82 joints diagnosed with traumatic TMJ ankylosis with a medially displaced residual condyle were included in the present study. Lateral arthroplasty (LAP) was performed, and either the masseter muscle flap (MMF) or the temporalis myofascial flap (TMF) was used as interpositional material to fill the lateral space. The long-term results of these treatments were compared by performing postoperative computed tomography scans and clinical follow-up examinations. Results Of the 82 joints, 22 were treated with LAP, 28 with LAP and MMF, and 32 with LAP and TMF. Of the 60 patients, 38 (48 joints) participated in long-term follow-up (from 1 to 4 yr). Of the 11 joints treated with LAP, 4 (36.4%) developed reankylosis. Of the 17 joints treated with LAP and MMF, 3 (17.6%) developed reankylosis, and none of the 20 joints treated with LAP and TMF developed reankylosis. Compared with LAP alone, LAP with TMF significantly improved the maximal incisal opening during long-term follow-up. Conclusion LAP can preserve the residual TMJ structure. The TMF is a reliable interpositional material in LAP for the prevention of reankylosis.

Vascular anomalies are among the most common congenital and neonatal dysmorphogenesis, which are separated into hemangiomas and vascular malformations. They can occur in various areas throughout the body, with 60% being located in the head and neck. The true mechanism of pathogenesis of vascular anomalies is still unclear. Various treatment methods have been reported, and there are still controversies over the selection of different treatment modalities. Based on the clinical and basic research and current literature, the Chinese Division of Oral and Maxillofacial Vascular Anomalies formulated a treatment guideline for hemangiomas and vascular malformations of the head and neck, which will be modified and updated periodically based on new medical evidence and research.

The concurrence of 2 independent neoplasias in the ipsilateral parotid and the temporomandibular joint (TMJ) region was infrequently reported. In this article, we present a unique case characterized by the coexistence of a rare salivary gland tumor, basal cell adenoma, of the parotid gland with a ganglion cyst in the ipsilateral TMJ region. A special surgical procedure was also presented here using a modified preauricular incision and transcondylar approach for extracapsular dissection of both lesions. Previously published literature are about the traditional treatment of benign parotid tumors using partial or total parotidectomy with the preservation of facial nerve mainly via an S-shaped submandibular incision and approach. Here, for the first time, a special surgical method using preauricular transcondylar approach for this unique case of synchronous occurrence of parotid tumor and TMJ cyst is reported.

Our aim was to describe the effects of soft tissue injury to the temporomandibular joint (TMJ), to analyse possible reasons for it, and to evaluate the results of treatment. Eight patients (12 joints) who developed disorders of the TMJ after trauma to the mandible without fracture of the condyle were treated in our department from 2009 to 2010. Magnetic resonance imaging (MRI) and computed tomography (CT) were used to check the condition of the joint. Five patients had their joints explored to relieve pain and improve mouth opening. MRI showed all 12 joints had displaced discs. CT showed that the surface of the condylar bone was "intact" immediately after injury but destroyed later in 8 joints. Exploration showed fibrous ankylosis in 5, osteoarthritis with intra-articular adhesions in 2, and internal derangement in 1. Four were treated by costochondral graft (CCG) with 7 symptomatic joints. The disc was repositioned in 1 case with 1 affected joint. The mean maximal incision opening at follow-up were significantly better than the one before treatment (mean 34 compared with 23 mm, p=0.02). Pain in the TMJ was relieved by operation in all patients so treated. The other 3 patients (4 joints) had no treatment because their symptoms were minor and mouth opening was not restricted. Soft tissue injuries of the TMJ can potentially lead to internal derangement, osteoarthrosis, and possibly fibrous ankylosis, which should be considered during follow-up. Displacement of the disc and damage to the condylar cartilage seem to be the causes of these complications. Surgical management is effective in the short term.

Objective To investigate the role of serum basic fibroblast growth factor (bFGF), estradiol (E2) and urine bFGF in differentiating infantile haemangiomas from vascular malformations. Method Between October 2007 and January 2009, 97 patients with haemangiomas and 25 patients with vascular malformations who had not been treated previously were included in this prospective study. Forty-eight patients with cleft lip and/or palate were selected as controls. The age of all subjects ranged from 1 to 30 months. The serum and urine levels of bFGF were determined by enzyme-linked immunosorbent assay (ELISA). The serum levels of E2 were examined via radioimmunoassay. All data were analysed with SPSS 11.5 software package. Results The concentration of serum and urine bFGF was significantly different among the three groups (haemangiomas, vascular malformations and controls) ( P = 0.027, P = 0.001). Significantly different urine bFGF levels were found in patients with proliferating and involuting haemangiomas ( P = 0.04). The serum E2 levels were significantly higher in patients with haemangiomas than vascular malformations ( P = 0.001) and controls ( P = 0.001). Conclusion Serum bFGF and E2 as well as urine bFGF can be used to supplement the clinical diagnosis of congenital vascular anomalies. Urine bFGF combined with serum E2 may be the most potential markers for diagnosing haemangiomas and determining the proliferating stage of haemangiomas.

Background: Open joint procedures using bone anchors have shown clinical and radiograph good success, but post surgical disc position has not been documented with MRI imaging. We have designed a modified technique of using two bone anchors and 2 sutures to reposition the articular discs. This MRI study evaluates the post surgical success of this technique to reposition and stabilize the TMJ articular discs. Methods: Consecutive 81 patients with unilateral TMJ internal derangement (ID) (81 TMJs) were treated between December 1, 2003, and December 1, 2006, at the Department of Oral and Maxillofacial Surgery, Ninth Peoples Hospital, Shanghai, Jiao Tong University School of Medicine. All patients were subjected to magnetic resonance imaging before and one to seven days post surgery to determine disc position using the modified bone anchor technique. Results: Postoperative MRIs (one to seven days) confirm that 77 of 81 joints were identified as excellent results and one joint was considered good for an overall effective rate of 96.3% (78 of 81 joints). Only 3.7% (3 of 81) of the joints were designated as poor results requiring a second open surgery. Conclusions: This procedure has provided successful repositioning of the articular discs in unilateral TMJ ID at one to seven days post surgery. Background The temporomandibular joint (TMJ) is the only diarthrodial joint of the human jaws. The joint is formed by the bony articulations of the mandibular condyle and the temporal bone (glenoid fossa and articular eminence). Interposed between the condyle and the fossa is a piece of dense, avascular fibrous connective tissue, the TMJ disc. This disc divides the joint into superior and inferior joint compartments, which normally do not communicate with each other. The disc and condyle are in a normal anatomic relationship if the posterior band of the disc is located above the condylar head when the mandibular condyle is centrically positioned in the fossa. Because the bilaminar tissue posterior to the disc is relatively weak, TMJ disorders are a relatively common

The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge–Weber syndrome (SWS). Genomic DNA was obtained from peripheral blood of nine patients with sporadic SWS. The 25 exons, promoter regions (−1,000 bp) as well as intron-exon boundaries of RASA1 were amplified by polymerase chain reaction, and products were sequenced directly. A novel synonymous mutation (c.1229 G > A [p.K420K]) of RASA1 was identified in the present series. It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.

Objective This article studies the classification of traumatic temporomandibular joint (TMJ) ankylosis based on coronal computed tomographic (CT) scan and presents our treatment experience in the TMJ division of Shanghai Ninth People's Hospital. Patients and Methods From 2001 to 2009, 130 patients diagnosed with TMJ ankylosis were treated in the TMJ division. Among them, 84 patients with 124 joint injuries caused by trauma were treated first by our group of surgeons and were included in this study. All of them had CT scans, especially coronal reconstruction through the TMJ area before and after surgery. A new classification based on the coronal CT scan was proposed: type A1 is fibrous ankylosis without bony fusion of the joint; type A2 is ankylosis with bony fusion on the lateral side of the joint, while the residual condyle fragment is bigger than 0.5 of the condylar head in the medial side; type A3 is similar to A2 but the residual condylar fragment is smaller than 0.5 of the condylar head; type A4 is ankylosis with complete bony fusion of the joint. Our treatment protocol for type A1 ankylosis is fibrous tissue release or condylar head resection with costochondral graft (CCG) and temporalis myofascial flap (TMF). For type A2 and A3 ankylosis, the lateral bony fusion is resected, while the intact residual condylar fragment, displaced medially, is retained. We call it “lateral arthroplasty” (LAP). TMF or masseter muscle flap (MMF) is used as a barrier in the lateral gap between the TMJ fossa and the stump of the mandibular ramus. If the medial condylar fragment in type A3 ankylosis is too small to bear the load, it is resected with the bony mass. The joint is then reconstructed with CCG and TMF or MMF. For type A4 ankylosis, the bony fusion is completely removed and the joint is reconstructed with CCG and TMF or MMF. The result of the treatment was evaluated by CT scan and clinical follow-up. Results Among the 124 ankylotic joints, there were 14 type A1 ankylosis (11.3%); 43 type A2 ankylosis (34.7%); 46 type A3 ankylosis (37.1%); and 21 type A4 ankylosis (16.9%). Part of type A1, and all of type A2 and A3 ankylosis had the residual condylar head displaced medially, which accounted for 75% (93/124) of the TMJ ankylosis. Eighty-two joints (66.1%) had LAP treatment; 33 joints (26.6%) had CCG joint reconstruction; and 3 joints (2.4%) had TMJ fibrous tissue release. In our case, 1 joint (0.8%) had condylectomy and TMF; 3 joints (2.4%) with fibrous ankylosis had mouth opening treatment; and 2 joints had gap arthroplasty (1.6%). Forty-eight patients with 68 joints had long follow-ups from 10 months to 4 years. Among them, 4 of 17 joints reconstructed with CCG had reankylosis (23.5%), and 7 of 48 joints treated with LAP had reankylosis (14.6%). Conclusions The new classification of TMJ ankylosis based on coronal CT scan is valuable in guiding clinical treatment. LAP with TMF is a good way to treat traumatic TMJ ankylosis when the medially displaced condylar head and disc are intact. CCG with TMF has a good result for type A4 ankylosis.

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma. The cause of this disease remains unclear. Due to the occurrence of localized abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin gene expressions in the SWS port-wine-derived fibroblasts are increased. Fibronectin is an important extracellular matrix molecule with key roles in regulating angiogenesis and vasculogenesis, in maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. This is consistent with the presence of a hypothesized somatic mutation underlying SWS. In this study, we have proposed that fibronectin may be reflection of somatic mutation. Further research should be done to study the role of fibronectin in the pathogenesis of SWS. Understanding the pathophysiology of Sturge-Weber syndrome will help us to establish future neuroprotective strategies and novel treatment modalities.

The purpose of the study was to investigate the indications and treatment results of intralesional injection of Pingyangmycin for vascular malformations in oral and maxillofacial regions. Between June 2002 and July 2007, 297 patients with oral and maxillofacial vascular malformations (except venular malformation and arteriovenous malformation) were treated with percutaneous injection of Pingyangmycin in our department. There were 159 males and 138 females aged from 8 months to 72 years (mean age 20.6 years). The types of the disease included 98 lymphatic malformations (66 microcystic and 32 macrocystic malformations), 179 venous malformations, and 20 mixed lymphatic-venular or venous malformations. The lesions were located in the oral and maxillofacial and head and neck regions, and measured 0.8 cm x 1.0 cm -12.4 cm x 10.5 cm in size. Two hundred and forty-nine patients underwent intralesional injection of Pingyangmycin alone, 30 patients had laser therapy, and 18 patients underwent surgical excision as well. The number of injection sessions was 1-5, with an average of 3.5 times. Pingyangmycin, dexamethasone, and lidocaine were mixed for injection at concentrations of 1.0mg of Pingyangmycin per milliliter for microcystic lymphatic malformation and 2.0mg of Pingyangmycin per milliliter for venous malformation and macrocystic lymphatic malformation. The patients were followed up for 1-6 years after treatment. The results were evaluated based on B-type ultrasound examinations before and after treatment. The clinical cure rate of venous malformation, macrocystic lymphatic malformation, microcystic lymphatic malformation and mixed malformation was 74.86%, 84.38%, 38.88%, and 60.0%. Five patients had fever. No ulceration, necrosis, or anaphylactic reaction was found. Intralesional injection of Pingyangmycin at an adequate concentration can be used as the therapy of choice for small and medium-sized venous malformations, macrocystic lymphatic malformations, microcystic lymphatic malformations, and mixed malformations. The advantages included a high cure rate, safety and reliability, short course, easy manipulation, and fewer side effects with satisfactory recovery of appearance and function.

Gingival epulis represents a family of benign tumors and tumorlike masses of the gingiva. A spectrum of inflammatory and other reactive changes can be observed pathologically as granulation, fibrous or vascular tissue. It may occur at any age, but most commonly found in patients at their twenties and sixties. Women are more frequently affected than men. Surgical excision or removal is the treatment of choice, and wider resection including extraction of the involved teeth and adjacent tissues is often required in order to prevent recurrence. However, wider resection may result in cosmetic and functional problems. Epulis bears some similarities with hemangioma both clinically and histopathologically. Therefore, we hypothesize that intralesional injection of Pingyangmycin may be a safe and effective treatment for epulis. The efficacy of this treatment modality is worthy of further investigation.

Hemangioma is the most common benign vascular tumor in infants and children with unknown etiology and pathogenesis. It is characterized by rapid proliferation followed by a slow involution phase. Histological analyses of infantile hemangioma (IH) in the early proliferating phase have generated a number of developmental theories suggesting an embryonic or primitive cell origin. We here hypothesize the IH may originate from multipotential stem cells. Further investigations of these hemangioma-initiating cells may improve our understanding of their function and possibly lead to novel therapeutic modalities for hemangiomas.