A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.

BACKGROUND: Retinitis pigmentosa (RP) is a rare, progressive, and hereditary disorder that leads to the progressive loss of vision and visual field, and in some cases blindness. The specific relationship between RP and glaucoma has been debated for decades. METHODS: In this study, we examined a Han RP family with concomitant angle-closure glaucoma (ACG), performed an inductive analysis of their clinical features and assistant results, and applied whole-exome sequencing (WES) technology for a molecular diagnosis. RESULTS: A novel transversion mutation (c.626 T > A) was identified in the peripherin-2 (PRPH2) gene in the proband, resulting in the substitution of Valine to aspartic acid in codon 209. A full ophthalmic examination showed that the proband with the c.626 T > A mutation had a typical RP manifestation, with close angles; however, the proband's elder brother, who lacked the novel mutation, had a normal fundus and open angles. CONCLUSION: Our results extend the genetic mutation spectrum of PRPH2 in RP, and provide evidence to support a genetic correlation between RP and ACG.

[Retrospective analysis on total hip arthroplasty for the treatment of developmental dysplasia of the hip in 29 adults].

OBJECTIVE: To study the results of the total hip arthroplasty (THA) in the treatment of developmental dysplasia of the hip (DDH) with severe osteoarthritis in adults. METHODS: From March 2004 to February 2011, 29 patients (32 hips) with DDH were treated by THA with an cementless cup. There were 11 males and 18 females,with an average age of 52.6 years (ranging from 37 to 73 years). Unilateral DDH occurred in 26 patients and bilateral DDH occurred in 3 patients. Based on the Crowe classification, there were 18 hips in 17 patients of type I ,7 hips in 6 patients of type II, 4 hips in 3 patients of type III, 3 hips in 3 patients of type IV. Except for 3 patients with bilateral DDH, the other patients' ill lower limbs were 1 to 6 cm shorter than the healthy lower ones. RESULTS: All the patients were followed up,and the duration ranged from 8 months to 5.3 years(averaged 3.7 years) without infection, dislocation, and sciatic nerves injury after the operation. One patient with proximal femoral fracture, intraoperation used wire binding, after 4 years of follow-up, fracture healed without evidence of prosthesis loosening. All grafts and subtrochanteric osteotomy healing were achieved. In 21 patients, the pain was completely relieved and the function of the hip joints was good. Five patients still had mild limping, but reduced significantly than preoperation. In 3 patients, the ill lower limbs were more than 1 cm shorter than the healthy lower ones and the other patients' ill lower limbs were less than 1 cm shorter than the healthy lower ones. Two patients' lower limbs were lengthened 4 to 5 cm. The Harris scores were 43.6 +/- 7.1 preoperatively and 86.7 +/- 5.3 postoperatively (P < 0.05). CONCLUSION: THA with deepening the medial wall of the acetabulum at the true acetabulum, according to different characteristics of Crowe classification, using different operation program, cementless cup in adult could obtain favorable results.

Determination of metolcarb and diethofencarb in apples and apple juice by solid-phase microextraction-high performance liquid chromatography.

A method for the determination of metolcarb and diethofencarb in apples and apple juice is developed using solid-phase microextraction (SPME) coupled with high-performance liquid chromatography (HPLC). The experimental conditions of SPME, such as the kind of extraction fiber, extraction time, stirring rate, pH of the extracting solution, and desorption conditions are optimized. The SPME is performed on a 60 microm polydimethylsiloxane/divinylbenzene fiber for 40 min at room temperature with the solution being stirred at 1100 rpm. The extracted pesticides on the SPME fiber are desorbed in the mobile phase into SPME-HPLC interface for HPLC analysis. Separations are carried out on a Baseline C18 column (4.6 i.d. x 250 mm, 5.0 microm) with acetonitrile-water (55/45, v/v) as the mobile phase at a flow rate of 1.0 mL/min, and photodiode-array detection at 210 nm. For apple samples, the method is linear for both metolcarb and diethofencarb in the range of 0.05-1.0 mg/kg (r > 0.99), with a detection limit (S/N = 3 ) of 15 and 5 microg/kg, respectively. For apple juice, the method is linear for both metholcarb and diethofencarb over the range of 0.05-1.0 mg/L (r > 0.99) with the detection limit (S/N = 3 ) of 15 and 3 microg/L, respectively. Excellent recovery and reproducibility values are achieved. The proposed method is shown to be simple, sensitive, and organic solvent-free, and is suitable for the determination of the two pesticides in apples and apple juice.