Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized by: 1) an increase of the homocystine and methionine concentration in the plasma; and 2) a decrease of the cystine with an increased excretion of homocystine in the urine. The clinical manifestations of this autosomal recessive disorder include: ectopoia lentis, skeletal abnormalities, high incidence of thromboembolism and high frequency of mental retardation. We have been experiencing a case of a 10 year old female patient who has suffered from homocystinuria. She has undergone mental retardation, poor vision caused by ocular complications and Marfanoid feautures.
Brain ; Child ; Cystathionine ; Cystine ; Ectopia Lentis* ; Female ; Homocystine ; Homocystinuria* ; Humans ; Incidence ; Intellectual Disability ; Liver ; Metabolism ; Methionine ; Plasma ; Thromboembolism

We studied retrospectively the results of the Ahmed glaucoma valve implant surgery in 20 eyes with neovascular glaucoma. All cases were failed with medical or surgical glaucoma interventions. Mean follow-up period was 15.1 +/-14.9 months (3~56 months). The criteria for success included a postoperative intraocular pressure (IOP) of less than or equal to 21 mmHg and greater than or equal to 6 mmHg, and no additional glaucoma therapy or devastating visual complications. Mean IOP was significantly reduced from pre- operative 36.9 +/-5.2 mmHg to 17.6 +/-8.7 mmHg at the last visit. In respect with IOP control,success rate was 80%at final follow-up.The causes of failure were loss of light perception in 3 eyes (25%), inadequate IOP control in 2 eyes (10%), tube removal due to malfunction in 1 eye (5%). Complete success rate was 70%at a final follow-up.Complication included hyphema in 15 eyes,hypotony in 7 eyes, fibrous membrane formation and anterior synechiae in 3 eyes, tube obstruction in 2 eyes, flat anterior chamber in 1 eye, corneal decompensation in 1 eye, tube malposition in 1 eye, temporary choroidal detachment in 1 eye. These results indicate that Ahmed glaucoma valve implant for neovascular glaucoma can be a good successful IOP control device and comparable to the other drainage device.
Anterior Chamber ; Choroid ; Drainage ; Follow-Up Studies ; Glaucoma* ; Glaucoma, Neovascular* ; Hyphema ; Intraocular Pressure ; Membranes ; Retrospective Studies

Adjunctive use of Mitomycin C (MMC)in trabeculectomy has greatly improved the success rate. Trabeculectomy with MMC, however, has resulted in a cystic and thin-walled filtering bleb, which may be more susceptible to infection. Late onset bleb-related endophthalmitis developed in a glaucoma patient at 40 months after MMC trabeculectomy. Filtering bleb in this patient had been avascular, thin-walled and cystic prior to the occurrence of endophthalmitis. Patient complained of decreased visual acuity with ocular discomfort and conjunctival injection and showed a mucopurulent infiltrate within the bleb, hypopyon and vitritis. Visual acuity was hand motion. An intensive treatment included anterior chamber irrigation, lensectomy,par plana vitrectomy, intravitreal and subconjunctival antibiotics (vancomycin,gentamycin) injection and topical and systemic corticosteroid (dexamethasone) and antibiotics,which led to a resolution.
Anterior Chamber ; Anti-Bacterial Agents ; Blister ; Endophthalmitis* ; Glaucoma ; Hand ; Humans ; Mitomycin* ; Trabeculectomy* ; Visual Acuity ; Vitrectomy

We studied the efficacy of laser suture lysis in the promotion of filtration and bleb formation during the early postoperative period after trabeculectomy. Laser suture lysis was performed on thirty-two eyes of thirty patients considered overtight scleral flap suture among patients who underwent trabeculectomy with mitomycin-C, using an argon laser and a Hoskins lens. Patients were entered into the study if, after ocular massage, the intraocular pressure(IOP) was greater than our target pressure(8-12mmHg) 48 Hours after surgery, deep quiet anterior chamber, weak or no bleb formation, no bleb leakage, and a patent internal ostium on gonioscopy. Intraocular pressure measured within 5 minutes of lysis and gentle ocular massage was employed if there was no sopontaneous bleb formation. A further suture was lysed if at this stage there was still no bleb associated with a high IOP. Suture lysis was successful in all cases in the early postoperativy period. The mean IOP before lysis was 22.1mmHg and after serial lysis 9.8mmHg. Complications were noted with laser suture lysis: shallowing of anterior chamber, ocular hypotony, sunconjunctival hemorrhage, hyphema and cataract. All resolved with appropriate management. Laser suture lysis is a safe, effective, and non-invasive method, It can avoid surgical manipulation and increase long term success rate of trabeculectomy.
Anterior Chamber ; Argon ; Blister ; Cataract ; Filtration ; Gonioscopy ; Hemorrhage ; Humans ; Hyphema ; Intraocular Pressure ; Massage ; Mitomycin ; Ocular Hypotension ; Postoperative Period ; Sutures* ; Trabeculectomy*

Cleft palate and congenital alveolar synechia is a rare syndrome. Only eight cases have been previously reported. It consists of a spectrum of facial anomalies always including cleft palate and congenital alveolar synechiae without other abnormalities. This report described an unusual case of congenital alveolar synechial band spanning posterior alveolar of the two jaws with cleft palate. Previously reported cases showed bilaterally or anteriorly located fibrous band. In our department, a new born revealed unilateral posterior synechia. Under brief intravenous sedation, synechium was divided using bipolar diathermy in the nursery at 3 days of age because of poor feeding. This division allowed full jaw opening after brief passive exercise. The patient is growing and maturing as expected with no complications. This patient is supposed to be the first reported case of isolated unilateral alveolar synechium combined with cleft palate in the worldwide.
Cleft Palate ; Diathermy ; Humans ; Jaw ; Nurseries

MDR1 promoter has been shown to contain heat shock elements (HSE), and it has been reported that FM3A/M and P388/M MDR cells show a constitutively activated heat shock factor (HSF), suggesting that HSF might be an important target for reversing the multidrug resistance. Therefore, it was examined whether quercetin, which has been shown to interfere with the formation of the complex between HSE and HSF, and to downregulate the level of HSF1, can sensitize MDR cells against anticancer drugs by inhibition of HSF DNA-binding activity. In this study, quercetin appeared to inhibit the constitutive HSF DNA-binding activity and the sodium arsenite-induced HSF DNA-binding activity in the MDR cells. The basal and sodium arsenite-induced MDRCAT activities were remarkably suppressed by the treatment of quercetin. These results were well consistent with the finding that the treatment of quercetin decreased the expression level of P-gp, MDR1 gene product, in dose-dependent manner, and markedly increased the sensitivity of MDR cells to vincristine or vinblastine. These results suggest that quercetin can decrease the expression of P-gp via inhibition of HSF DNA-binding activity, and might be useful as a chemosensitizer in MDR cells.
Animal ; Antineoplastic Agents/pharmacology ; Arsenites/pharmacology ; Carcinoma/drug therapy ; Drug Resistance, Multiple/physiology* ; Drug Resistance, Neoplasm/physiology ; Heat-Shock Proteins/metabolism ; Heat-Shock Proteins/drug effects* ; Heat-Shock Proteins/antagonists & inhibitors ; Leukemia, Experimental/drug therapy ; Mice ; P-Glycoprotein/genetics ; P-Glycoprotein/drug effects ; Quercetin/pharmacology* ; Sodium Compounds/pharmacology ; Tumor Cells, Cultured ; Vinblastine/pharmacology ; Vincristine/pharmacology

The synchondrosis between the sixth and seventh costal cartilage is usually used for the base frame in autogenous ear reconstruction. If the synchondrosis is loose, a variety of modifications can be devised. This report introduces new methods for these problems. In cases of incomplete synchondrosis, only the surface of the base block margin was smoothly tapered without carving for the removal of the conchal deepening. The secure fixation of the two segments (helix and antihelix) to the base block using fine wire sutures gave stability to the unstable basal frame. After confirming that all the segments were assembled in one stable piece, the remaining conchal deepening of the basal framework was removed, and the outer lower portion of the basal cartilage was trimmed along its whole length. A total of 10 consecutive patients with microtia, ranging from 8 to 13 years old, were treated from 2008 to 2009. The follow-up period was 6 months to 2 years. Despite incomplete synchondrosis, the stable frameworks were constructed using the authors' method and aesthetically acceptable results were achieved. The proposed method can provide an easy way to make a stable cartilage framework regardless of the variable conditions of synchondrosis.
Cartilage ; Congenital Abnormalities ; Ear ; Ear Cartilage ; Follow-Up Studies ; Humans ; Sutures

Temporomandibular joint(TMJ) and dental occlusion are important in functional aspect as well as in cosmetic aspect for craniofacial surgery such as orthognathic and traumatic surgery. During these operations, appropriate maxillomandibular fixation(MMF) is especially necessary to conserve or reconstruct, dynamic TMJ and functional occlusion. Arch bar is one of the most popular method to gain proper MMF. Seventeen patients including 5 patients with mandibular fracture, 12 patients with orthognathic surgery(6 patients had relatively normal occlusion, however 6 patients had facial anomalies such as hemifacial microsomia with irregular occlusal plane.) were joined in this study. Arch bar was contoured on the dental cast, which was prepared for model surgery, prior to apply it on the facial anomaly patient. On using pre-contoured arch bar, patients felt better during the procedure and surgeons saved time. Moreover, well-contoured arch bar promises precise transmission of force on the bone, which implies surgeons do not need to worry about the occlusion while fixing bony structures. Authors suggest how to apply arch bar to satisfy basic theories about dental row and occlusion based on the experience. In addition, it is proposed to contour arch bar on the dental impression prior to apply it on the patient who has irregular and complex occlusal plane.
Cosmetics ; Dental Occlusion ; Facial Asymmetry ; Humans ; Jaw Fixation Techniques ; Mandibular Fractures ; Surgery, Oral ; Temporomandibular Joint

BACKGROUND: This article presents long-term outcomes after correcting secondary bilateral cleft lip nasal deformities using a refined reverse-U incision and V-Y plasty or in combination with a composite graft in order to elongate the short columella. METHODS: A total of forty-six patients underwent surgery between September 1996 and December 2008. The age of the patients ranged from 3 to 19 years of age. A bilateral reverse-U incision and V-Y plasty were used in 24 patients. A composite graft from the helical root was combined with a bilateral reverse-U incision in the 22 patients who possessed a severely shortened columella. The follow-up period ranged between 2 and 10 years. RESULTS: A total of 32 patients out of 46 were evaluated postoperatively. The average columella length was significantly improved from an average of 3.7 mm preoperatively to 8.5 mm postoperatively. The average ratio of the columella height to the alar base width was 0.18 preoperatively and 0.29 postoperatively. The postoperative basal and lateral views revealed a better shape of the nostrils and columella. The elongated columella, combined with a composite graft, presented good maintenance of the corrected position with no growth disturbance. A composite graft showed color mismatching in several patients. Twenty-six patients demonstrated no alar-columella web deformity and satisfactory symmetry of the nostrils. Four patients experienced a drooping and overhanging of the corrected alar-columella web. CONCLUSIONS: A bilateral reverse-U incision with V-Y plasty or in combination with a composite graft was effective in correcting secondary bilateral cleft lip nasal deformity.
Cleft Lip ; Congenital Abnormalities ; Follow-Up Studies ; Humans ; Nose ; Rhinoplasty ; Succinates ; Transplants

In the treatment of mandibular condyle fracture, conservative treatment using closed reduction or surgical treatment using open reduction can be used. Management of mandibular condylar fractures remains a source of ongoing controversy in oral and maxillofacial trauma. For each type of condylar fracture,the treatment method must be chosen taking into consideration the presence of teeth, fracture height, patient'sadaptation, patient's masticatory system, disturbance of occlusal function, and deviation of the mandible. In the past, closed reduction with concomitant active physical therapy conducted after intermaxillary fixation during the recovery period had been mainly used, but in recent years, open treatment of condylar fractures with rigid internal fixation has become more common. The objective of this review was to evaluate the main variables that determine the choice of an open or closed method for treatment of condylar fractures, identifying their indications, advantages, and disadvantages, and to appraise the current evidence regarding the effectiveness of interventions that are used in the management of fractures of the mandibular condyle.
Jaw Fixation Techniques ; Mandible ; Mandibular Condyle ; Mandibular Fractures ; Motion Therapy, Continuous Passive ; Stomatognathic System ; Tooth