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1.
BMC Ophthalmol ; 22(1): 484, 2022 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-36510151

RESUMO

BACKGROUND: To design and develop a surgical robot capable of assisting subretinal injection. METHODS: A remote center of motion (RCM) mechanical design and a master-slave teleoperation were used to develop and manufacture the assisted subretinal surgery robot (RASR). Ten fresh isolated porcine eyes were divided into the Robot Manipulation (RM) group and Manual Manipulation (MM) group (5 eyes for each group), and subretinal injections were performed by the robot and manual manipulation methods, respectively. A preliminary verification of the robot was performed by comparing the advantages and disadvantages of the robot manipulation and manual manipulation by using optical coherent tomography (OCT), fundus photography, and video motion capture analysis after the surgery. RESULTS: Both the robot and the manual manipulation were able to perform subretinal injections with a 100% success rate. The OCT results showed that the average subretinal area was 1.548 mm2 and 1.461 mm2 in the RM and MM groups, respectively (P > 0.05). Meanwhile the volume of subretinal fluid obtained using the retinal map mode built in OCT was not statistically different between the RM and MM groups (P > 0.05). By analyzing the surgical video using Kinovea, a motion capture and analysis software, the results suggest that the mean tremor amplitude of the RM group was 0.3681 pixels (x direction), which was significantly reduced compared to 18.8779 pixels (x direction) in the MM group (P < 0.0001). CONCLUSION: Robot-assisted subretinal injection system (RASR) is able to finish subretinal injection surgery with better stability and less fatigue than manual manipulation.


Assuntos
Robótica , Animais , Suínos , Tomografia de Coerência Óptica/métodos , Líquido Sub-Retiniano , Retina/cirurgia , Software
2.
Front Genet ; 14: 1139161, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37021010

RESUMO

Background: PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known. Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 mutation were collected. A literature review was performed, and the clinical characteristics of 20 cases diagnosed with a mutation of PRDM12 were summarized and analyzed. Results: Two patients had pain insensitivity, tongue and lip defects, and corneal ulcers. The genomic analysis results showed that variants of PRDM12 were detected in the two families. The case 1 patient carried heterozygous variations of c.682+1G > A and c.502C > T (p.R168C), which were inherited from her father and mother, respectively. We enrolled 22 patients diagnosed with CIP through a literature review together with our cases. There were 16 male (72.7%) and 6 female (27.3%) patients. The age of onset ranged from 6 months to 57 years. The prevalence of clinic manifestation was 14 cases with insensitivity to pain (63.6%), 19 cases with self-mutilation behaviors (86.4%), 11 cases with tongue and lip defects (50%), 5 cases with mid-facial lesions (22.7%), 6 cases with distal phalanx injury (27.3%), 11 cases of recurrent infection (50%), 3 cases (13.6%) with anhidrosis, and 5 cases (22.7%) with global developmental delay. The prevalence of ocular symptoms was 11 cases (50%) with reduced tear secretion, 6 cases (27.3%) with decreased corneal sensitivity, 7 cases (31.8%) with disappeared corneal reflexes, 5.5 cases (25%, 0.5 indicated a single eye) with corneal opacity, 5 cases (22.7%) with corneal ulceration, and 1 case (4.5%) with a corneal scar. Conclusion: The syndrome caused by PRDM12 mutation is a clinically distinct and diagnosable disease that requires joint multidisciplinary management to control the development of the disease and minimize the occurrence of complications.

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