Stickler syndrome is a hereditary connective tissue disorder, characterized in ocular manifestations by high myopia and vitreous abnormalities. The progression of the disease can lead to giant retinal tear and rhegmatogenous retinal detachment, making it the most common cause of inherited pediatric retinal detachment. Surgical intervention is the primary treatment for retinal detachment associated with Stickler syndrome. However, there are currently no evidence-based management strategies. Patients typically require multiple surgeries, with low reattachment rates and high recurrence rates, emphasizing the importance of prophylactic treatment. Current prophylactic measures include scleral bucking, laser photocoagulation and retinal cryotherapy, but their absolute benefits remain insufficiently supported. This review summarizes recent advances in the prophylaxis and treatment of retinal detachment in Stickler syndrome, aiming to provide new insights and essential references for the prevention and treatment for such conditions.

Objective:To evaluate the efficacy and safety of comprehensive treatment for retinoblastoma (RB).Methods:A retrospective clinical study. From January to December in 2019, 157 cases (203 eyes) of RB who were diagnosed by the Department of Ophthalmology of Xinhua Hospital and received comprehensive treatment were included in this study. Of cases, 76 were male, and 81 were female; 111 were unilateral, and 46 were bilateral. The medium of age at diagnosis was 20.1 months. All patients received treatment for the first time. Patients with intraocular tumors were divided into A-E stages, extraocular stage and distant metastasis according to international intraocular RB classification standard. The median follow-up time was 37.4 months. Clinical features, treatment, prognosis and ocular complications of all cases were recorded.Results:Among 157 cases (203 eyes), 137 cases (180 eyes) were in intraocular stage; 6, 14, 10, 98, and 52 of eyes were in A-E stages, respectively. Twelve cases (12 eyes) were in extraocular stage; 8 cases (11 eyes) were in distant metastasis stag; 8 cases died due to distant metastasis; 149 cases (94.9%, 149/157) survived; 48 eyes were enucleated, 34 of which underwent initial enucleation, and 14 eyes underwent enucleation after eye-preserving treatment. The overall global salvage rate was 155 eyes (76.4%,155/203), and that after eye-preserving treatment was 91.7% (155/169). Severer eye for bilateral cases was taken into account for statistic; 120 cases (120 eyes) received initial eye-preserving treatment. Among them, 36 and 84 eyes underwent initial intravenous chemotherapy (IVC) and initial intra-arterial chemotherapy (IAC), respectively. The enucleation of the two groups was 7(19.4%, 7/36), 7(8.3%, 7/84); 33 (91.7%, 33/36) and 33 (39.3%, 33/84) eyes received the second treatment, respectively. There was no significant difference in the rate of enucleation between the two treatments ( χ2=2.037, P=0.154). There was significant difference in the percentage of secondary treatment ( χ2=27.937, P<0.001). Fifty-four eyes (45.0%, 54/120) stabilized after initial treatment, and 66 eyes (55.0%, 66/120) underwent secondary treatments due to poor response or tumor recurrence. For 66 eyes receiving secondary treatments, enucleation, IAC, intravitreous chemotherapy (IVitC), IAC combined with IVitC, and laser and/or cryotherapy was performed in 6, 18, 12, 13, and 17 eyes, respectively. The number of eyes of enucleation among the IAC, IVitC, and IAC combined with IVitC group was 5 (27.8%, 5/18), 1 (9.3%, 1/12), and 2 (15.4%, 2/13) eyes, which was no significantly different ( χ2=2.001, P=0.368). Until the last follow-up, visual acuity outcomes were acquired in 148 eyes (72.9%, 148/203). Among them, 41, 53, 16 and 38 eyes had no light perception, light perception to finger counting, 20/400, and ≥20/200, respectively. In total, among 203 eyes, 121 eyes received IAC, of which 2, 4, and 1 eyes had optic disc atrophy, vitreous hemorrhage, and severe retinal-choroidal atrophy, respectively; 60 eyes received IVitC, of which one and one eye had vitreous hemorrhage and macular hemorrhagic necrosis, respectively. Conclusions:In this study, the overall survival rate was 94.9% after comprehensive treatment and the rate of global salvage after eye-preserving treatment was 91.7%. The comprehensive treatment of retinoblastoma had a relatively high efficacy and safety.

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

Objective:To explore the application value of digital three-dimensional(3D) reconstruction technology in the repair of oral and maxillofacial defects with superficial inferior epigastric artery (SIEA) flap.Methods:Twelve cases of oral cancer patients, including 8 males and 4 females; aged (57.4±12.6) years, were selected from the Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Bengbu Medical College from January 2018 to October 2019 and were proposed to repair with SIEA flap. There were 10 cases of squamous cell carcinoma, one case of adenoid cystic carcinoma and 1 case of mucinous epidermal carcinoma. The data were imported into AW4.7 software for post-processing. The left or right dominant donor area was selected to clarify the origin, diameter, alignment, and location of penetration point of the flap blood supply, and digital 3D reconstruction technology was used to guide the flap preoperative design.Results:Eleven cases were repaired by SIEA flap in 12 patients, one case was repaired by superficial iliac artery flap because the source artery was undiscovered, one case had venous vascular crisis after surgery, and the rest of the flap survived. In 11 patients repaired with SIEA flap, there was no significant difference between the preoperative SIEA diameter measured by CTA [(1.0±0.3) mm] and the actual measured value [(1.1±0.3) mm] ( P>0.05). The follow-up was 6 to 12 months, with an average of 10 months, and the donor-receiver areas were all healed in phase Ⅰ. No obvious complications occurred, and the abdominal scar was hidden. Conclusions:In the SIEA flap repair oral and maxillofacial defect reconstruction surgery, the use of digital 3D reconstruction technology can objectively reflect the diameter and the location of the superficial artery of the abdominal wall before surgery, effectively reduce the difficulty and risk of flap surgery.

To evaluate the clinical effect of digital assisted chimeric deep circumflex iliac artery perforator flap (DCIAPF) in the reconstruction of mandibular composite defects. Methods From January, 2018 to January, 2019, 6 cases of mandibular tumor patients with postoperative defect within side were treated. Preoperative CTA was used to evaluate the deep branches of spin iliac artery.Digital simulation software and 3D printing technolo-gy was taken, vascularized iliac flap of the design guide of bone was made, and the rebuilding effect was simulated. DCIAPF was used to repair the defect of lower jawbone. The donor sites were sutured directly. The patients were fol-lowed-up in outpatient department for 3-6 months to evaluate the recovery of the patient′s shape, jaw height and oc-clusal function, as well as the complications in the donor area. Results Postoperation pathological examination re-sults: ameloblastoma in 2 cases, 4 cases of gingival cancer. The length of cut out ilium was 6.0-13.0 cm, carrying the flap area of 3.0 cm×1.0 cm-6.0 cm×5.0 cm.Six cases of DCIAPF and iliac bone flap survived.The shape, mandibular height and occlusal function were satisfactory.And no obvious complications were found in the donor area. Conclu-sion The blood supply of DCIAPF is rich with enough bone mass and height. The position of terminal skin perfora-tors is invariant. The complications of donor sites is less. With the help of digital technology, the accuracy of mandibular defect repair and the 3-dimensional wound repair can be realized, and provides an advantage condition for subsequent dental implant.It is one of the ideal method of reconstruction of mandibular defect.

Objective To observe the clinical characteristics of rhegmatogenous retinal detachment (RRD) secondary to conservative therapy in retinoblastoma (RB) patients.Methods A retrospective study. From July 2013 to May 2017, 20 RRD patients (20 eyes) of 456 RB patients (573 eyes) treated in Xinhua Hospital of Shanghai Jiao Tong University School of Medicine were included in the study. Eleven patients (11 eyes) were boy and 9 patients (9 eyes) were girls. Thirteen patients demonstrated bilateral RB and 7 patients had unilateral RB. Average age when diagnosed with RB was 25 months. International Classification of Retinoblastoma groups were C in 1 eye, D in 17 eyes, and E in 2 eyes. These patients received intra-arterial chemotherapy (17 eyes), intravenous chemotherapy (11 eyes), intravitreal chemotherapy (8 eyes), laser (14 eyes) and/or cryotherapy (5 eyes). Twelve patients (12 eyes) received vitreoretinal surgery including vitrectomy (6 eyes) and scleral buckling (7 eyes). The mean follow-up was 39 months. Fundus examination was performed under general anesthesia during comprehensive treatment and follow-up. The time interval of fundus examination varied from 1 to 6 months depending on the stability of the tumor.Results RRD was noted in 20 eyes (3.5％) with RB. Retinal hole was found in 15 eyes (75％). The cause of RRD was atrophic hole in calcified tumor (6 eyes, 30％), cryotherapy-related hole (5 eyes, 25％) and laser-related hole (9 eyes, 45％). Multiple atrophic hole in calcified tumor was noted in 3 eyes. Size of hole smaller than 2 DD was noted in 8 eyes (53％), and larger than 2 DD was noted in 7 eyes (47％). Holes were in posterior (3 eyes), equator (2 eyes) and periphery (10 eyes). Severe proliferated was noted in 1 eye. No tear was found. No bulbar retinal detachment and choroidal detachment was noted. Among 12 eyes who underwent vitreoretinal surgery, reattachment was achieved in 9 eyes (75％). No metastasis was noted.Conclusions Calcified regression of tumor, cryotherapy and laser were main reasons of RRD. Most of the holes are small in diameter and located in the periphery.

Death following situations of intense emotional stress has been linked to the cardiac pathology described as stress cardiomyopathy, whose pathomechanism is still not clear. In this study, we sought to determine, via an animal model, whether the transcriptional coactivator peroxisome proliferator-activated receptor γ coactivator-1alpha (PGC-1α) and the amino peptide neuropeptide Y (NPY) play a role in the pathogenesis of this cardiac entity. Male Sprague-Dawley rats in the experimental group were subjected to immobilization in a plexy glass box for 1 h, which was followed by low voltage electric foot shock for about 1 h at 10 s intervals in a cage fitted with metallic rods. After 25 days the rats were sacrificed and sections of their hearts were processed. Hematoxylin-eosin staining of cardiac tissues revealed the characteristic cardiac lesions of stress cardiomyopathy such as contraction band necrosis, inflammatory cell infiltration and fibrosis. The semi-quantitative RT-PCR analysis for PGC-1α mRNA expression showed significant overexpression of PGC1-α in the stress-subjected rats (P<0.05). Fluorescence immunohistochemistry revealed a higher production of NPY in the stress-subjected rats as compared to the control rats (P=0.0027). Thus, we are led to conclude that following periods of intense stress, an increased expression of PGC1-α in the heart and an overflow of NPY may lead to stress cardiomyopathy and even death in susceptible victims. Moreover, these markers can be used to identify stress cardiomyopathy as the cause of sudden death in specific cases.
Animals ; Cardiomyopathies ; metabolism ; Myocytes, Cardiac ; metabolism ; Neuropeptide Y ; metabolism ; Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha ; Rats ; Rats, Sprague-Dawley ; Stress, Physiological ; physiology ; Transcription Factors ; metabolism

Death following situations of intense emotional stress has been linked to the cardiac pathology described as stress cardiomyopathy, whose pathomechanism is still not clear. In this study, we sought to determine, via an animal model, whether the transcriptional coactivator peroxisome proliferator-activated receptor γ coactivator-1alpha (PGC-1α) and the amino peptide neuropeptide Y (NPY) play a role in the pathogenesis of this cardiac entity. Male Sprague-Dawley rats in the experimental group were subjected to immobilization in a plexy glass box for 1 h, which was followed by low voltage electric foot shock for about 1 h at 10 s intervals in a cage fitted with metallic rods. After 25 days the rats were sacrificed and sections of their hearts were processed. Hematoxylin-eosin staining of cardiac tissues revealed the characteristic cardiac lesions of stress cardiomyopathy such as contraction band necrosis, inflammatory cell infiltration and fibrosis. The semi-quantitative RT-PCR analysis for PGC-1α mRNA expression showed significant overexpression of PGC1-α in the stress-subjected rats (P<0.05). Fluorescence immunohistochemistry revealed a higher production of NPY in the stress-subjected rats as compared to the control rats (P=0.0027). Thus, we are led to conclude that following periods of intense stress, an increased expression of PGC1-α in the heart and an overflow of NPY may lead to stress cardiomyopathy and even death in susceptible victims. Moreover, these markers can be used to identify stress cardiomyopathy as the cause of sudden death in specific cases.

Objective To evaluate the clinical effect of mandibular osteomuscular flap pedicled with temporalis and radial forearm free flap to repair palatomaxillary defects. Methods From March 2008 to March 2011,nine patients with palatomaxillary defects following malignant tumor ablation,were repaired with mandibular osteomuscular flap pedicled with temporalis and radial forearm free flap. According to Brown's classification for the maxillectomy defect,eight cases were type Ⅱ B and 1 case was type Ⅱ C. There were 6 males and 3 females with an average age of 57 years(range,34-68 years). Results All the 9 osteomuscular flaps and forearm flaps survived.The patients were followed up for 12 to 24 months with an average of 14 months. The patients acquired satisfactory appearance and complete functional restoration except 1 case of chondrosarcoma of recurrence was encountered 6 months after operation. Conclusions Palatomaxillary defects were reconstructed by mandibular osteomuscular flap pedicled with temporalis and radial forearm free flap immediately.It is easy to elevate,safe,and there were no donor site problems.This is an ideal method of repairing the palato maxillary defects.

This study investigated the role of reactive oxygen species (ROS) in the pathogenesis of triptolide-induced renal injury in vivo. Rats were randomly divided into 4 groups (n=5 in each): triptolide group in which the rats were intraperitoneally injected with triptolide solution at a dose of 1 mg/kg of body weight on day 8; control group in which the rats received a single intraperitoneal injection of 0.9% physiological saline on day 8; vitamin C group in which the rats were pretreated with vitamin C by gavage at a dose of 250 mg/kg of body weight per day for 7 days before the same treatment as the control group on day 8; triptolide+vitamin C group in which the rats were first subjected to an oral administration of vitamin C at a dose of 250 mg/kg of body weight per day for 7 days, and then to the same treatment as the triptolide group on day 8. All the rats were sacrificed on day 10. Blood samples were collected for detection of plasma creatinine (Pcr) and plasma urea nitrogen (PUN) concentrations. Both kidneys were removed. The histological changes were measured by haematoxylin-eosin (HE) staining. The production of ROS was determined by detecting the fluorescent intensity of the oxidation-sensitive probe rhodamine 123 in renal tissue. Renal malondialdehyde (MDA) content was measured to evaluate lipid peroxidation level in renal tissue. TUNEL staining was performed to assess apoptosis of renal tubular cells. Renal expression of apoptosis-related proteins Bcl-2, Bax, Bid, Bad, Fas and FasL, as well as corresponding encoding genes were assessed by Western Blotting and real-time PCR. The results showed that triptolide treatment promoted the generation of a great amount of ROS, up-regulated the expression of Bax, Bid, Bad, Fas and FasL at both protein and mRNA levels, as well as the ratio of Bax to Bcl-2, and caused the apoptosis of renal tubular cells and renal injury. However, pretreatment with an antioxidant, vitamin C, significantly reduced the generation of ROS and effectively inhibited the triptolide-induced apoptosis of renal tubular cells and renal injury. It was concluded that ROS plays a critical role in triptolide-induced apoptosis of renal tubular cells and renal injury. The protective administration of vitamin C may help alleviate triptolide-induced renal injury and nephrotoxicity.