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We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy.
We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. see more With 15years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination, multimodal imaging, and electrophysiology. In addition, we demonstrate the wide phenotypic spectrum of the condition with the affected sister harboring the same variants but with much milder phenotypic manifestations.
In addition to a previously described pathogenic variant, Ile167_Gly169del, one pathogenic missense variant in CRB1, Lys801Ter, not previously associated with macular dystrophy, is reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy with initial features similar to fenestrated sheen macular dystrophy (FSMD) that later evolves into severe macular atrophy.
In addition to a previously described pathogenic variant, Ile167_Gly169del, one pathogenic missense variant in CRB1, Lys801Ter, not previously associated with macular dystrophy, is reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy with initial features similar to fenestrated sheen macular dystrophy (FSMD) that later evolves into severe macular atrophy.
The optimal technique for the displaced greater tuberosity (GT) fractures remains unclear; those in favor of arthroscopic techniques emphasize on the feasibility of arthroscopic reduction and fixation, while others report that anatomic reduction and osteosynthesis of the fracture are optimal through open surgery. Therefore, we performed this study to evaluate the clinical results of arthroscopic fixation for displaced and/or comminuted GT fractures using a bridging arthroscopic technique.
We studied the files of 11 patients (4 men, 7 women; mean age, 55years; range, 28-74years), with an isolated, displaced GT fracture treated with arthroscopic reduction and double-row suture anchor fixation technique from December 2016 to October 2018. All patients were operated at a mean time from their injury of 23days (range, 1-85days) using an arthroscopic technique. Any concomitant pathology that was arthroscopically identified was identified and repaired after arthroscopic fixation of the GT fracture. The mean folloelation coefficient -0,85; p = 0.0009), and the patients with nonanatomic reduction had close to average score. All patients were very satisfied with the end result of the operation, even the 3 patients with residual fracture displacement. No patient experienced any postoperative complications.
Arthroscopic reduction and fixation of displaced GT fractures is a feasible minimally invasive procedure for optimal fracture healing and patients satisfaction.
Arthroscopic reduction and fixation of displaced GT fractures is a feasible minimally invasive procedure for optimal fracture healing and patients satisfaction.This study was carried out in Saudi Arabia during the events of the 4th King Abdulaziz Camel Festival, Saudi Arabia. It was designed to describe the most frequent locations of injected cosmetic fillers in the head region as well as the ultrasound features of the injected material. Apparently healthy camels (Camelus dromedarius) (n = 11,626) were thoroughly examined for injection of cosmetic fillers in the head region. In parallel, 30 non-injected camels were used as controls. The lips of camels suspected of having been injected with fillers were subjected to high-resolution ultrasound examination. Of the 11,626 camels, 58 were found to have been injected with cosmetic fillers, 45 in the upper lip and 13 in both the upper and lower lip. None of the injected camels had a history of recent illness. In addition, in all the injected camels, no dermal lip lesions were seen by the naked eye. Swelling of the upper and/or lower lips was visually inspected and palpated by hand in 52 of the camels. Drooping and swinging of the injected lips were observed in all injected camels. Hardness was detected in the tip of the upper lips of 26 of the injected camels and multiple hard nodules were palpated in the injected lips of 44 camels. Swelling of the edges of the upper and lower lips was detected in 41 of the injected camels. Ultrasonographic features of the injected lips are described in detail. Blood samples were collected from both groups. In none of the injected camels did the hemato-biochemical profiles differ significantly than the control group. In conclusion, results clearly indicate the usefulness and convenience of ultrasound as a diagnostic tool to locate the presence of injected fillers and to help monitor the extension and complications of the deposits.Considering the high importance of the rapid detection of chloride ion (Cl-) in sweat for the diagnosis of fibrotic cysts, we have investigated the heterogeneous halide exchange between CsPbBr3 perovskite nanocrystals (PNCs) in n-hexane and Cl- in aqueous solution. The results show that CsPbBr3 PNCs could achieve fast halide exchange with Cl- in the aqueous phase under magnetic stirring at pH = 1, accompanied by a significant wavelength blue shift and vivid fluorescence color changes from green to blue. Therefore, a fluorescence wavelength shift-based colorimetric sensing of Cl- based on the halide exchange of CsPbBr3 PNCs has been developed to realize the rapid detection of Cl- in sweat. Compared with the conventional fluorescence intensity-based method, this method is of high convenience since the whole procedure could be achieved within 5 min without any sample pretreatment (even no dilution), demonstrating promising application prospects. Graphical Abstract Fluorescence wavelength-shift based colorimetric sensing of chloride in sweat via halide exchange of CsPbBr3 perovskite nanocrystals.
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