OBJECTIVE: To explore the clinical phenotype, genotype and genetic characteristics for a patient with unilateral Pigmented paravenous retinochoroidal atrophy (PPRCA) and Retinitis pigmentosa (RP) in the contralateral eye. METHODS: A PPRCA pedigree which had presented at the Department of Medical Genetics of the Eye Hospital of Wenzhou Medical University in August 2021 was selected as the study subject. Clinical data of the family members were collected. The proband underwent wide-field fundus photography, wide-field autofluorescence, full-field electroretinogram (ff-ERG), visual field testing, optical coherence tomography (OCT), and fundus angiography (FFA and ICGA). Blood samples were collected from the proband and family members (parents and two sisters), and buccal mucosal cells were collected from the proband's daughter, and genomic DNA was extracted for each family member. Whole exome sequencing (WES) was performed on the proband. Candidate variants were verified using Sanger sequencing and pathogenicity analysis. This study was approved by the Medical Ethics Committee of the Eye Hospital of Wenzhou Medical University (Ethics No. 2019-134). RESULTS: Wide-angle fundus photography and autofluorescence showed that the right eye was consistent with PPRCA and the left eye with RP. OCT showed that the outer layer of the fovea was intact in the right eye, while disorganized outer segment was found in the fovea of the left eye, and outer segment atrophies outside the fovea were found in both eyes. The amplitudes of ff-ERG decreased significantly in both eyes, and the amplitudes in right eye were slightly higher than those of the left eye. Visual field showed a paracentral arcuate scotoma in the right eye and severe centripetal contraction in the left eye. FFA showed hyperfluorescence in the retinal vein distribution area caused by atrophy of retinal pigment epithelium of the right eye and hypofluorescence related to bone spicule pigmentation, in addition with mottled hypofluorescence of choroid in the left eye. ICGA showed mild paravenous retinochroidal atrophy of the right eye and diffuse choroid capillaries atrophy in the middle and peripheral area of the left eye. WES revealed that the proband had a heterozygous c.2234C>T (p.Thr745Met) variant of the CRB1 gene. Sanger sequencing confirmed that the proband and family members except the father of the proband carried the same CRB1 gene variant. Based on the criteria and guidelines for the classification of genetic variation and related consensus from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic (PM3_VeryStrong+PM1+PM2_Supporting +PP3). CONCLUSION The heterozygous c.2234C>T (p.Thr745Met) variant of the CRB1 gene may underlay the unilateral PPRCA with contralateral eye RP in this proband. Above findings have enriched the mutational spectrum of the CRB1 gene.
Humans ; Electroretinography ; Exome Sequencing ; Eye Proteins/genetics* ; Membrane Proteins/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree ; Phenotype ; Retinitis Pigmentosa/genetics* ; Tomography, Optical Coherence ; Retinal Degeneration ; Eye Diseases, Hereditary

ObjectiveTo investigate the effect of robot-assisted bilateral task-oriented upper limb training on upper limb function of patients with stroke. MethodsFrom January, 2021 to June, 2022, 52 patients with stroke in the Second Hospital of Jiaxing were enrolled and randomized into control group (n = 26) and experimental group (n = 26). Both groups received routine treatment. The control group added conventional bilateral upper limb training, while the experimental group added robot-assisted bilateral task-oriented upper limb training, for six weeks. Before and after treatment, the upper limb motor function and activities of daily living were assessed with Fugl-Meyer Assessment-Upper Extremity (FMA-UE) and modified Barthel Index (MBI). The upper limb proprioception test system was used to measure the average trace error (ATE) and test execution time of the upper limb. ResultsBefore treatment, there was no significant difference in the scores of FMA-UE and MBI, and ATE and test execution time between two groups (P > 0.05). After treatment, all the indexes improved significantly in both groups (|t| > 5.400, P < 0.001), and were better in the experimental group than in the control group (|t| > 2.123, P < 0.05). ConclusionRobot-assisted bilateral task-oriented upper limb training could facilitate to improve the upper limb motor function and activities of daily living of stroke patients.

Objective:To observe any effect of body-weight-supported treadmill training (BWSTT) combined with functional electrical stimulation (FES) on lower limb motor function and the walking ability of hemiplegic stroke survivors.Methods:Fifty-eight stroke survivors with hemiplegia were randomly divided into an FES group of 19, a BWSTT group of 19 and a combination group of 20. In addition to their early routine rehabilitation therapy, the FES and BWSTT groups were provided with the respective therapies, while the combination group received both. The three groups received 30 minutes of treatment a day, 5 days a week for 8 weeks. The Berg Balance Scale (BBS), the simplified version of the Fugl-Meyer assessment scale for the lower extremities (FMA-LE), the 10-metre walk test (10MWT) and functional ambulation classification (FAC) were used to evaluate the subjects′ balance, lower-limb motor function, walking speed and walking function before and after the 8 weeks of treatment.Results:After the treatment, the average BBS, FMA-LE, 10MWT and FAC scores of all three groups had improved significantly, but the combination group′s averages were then significantly better than those of the other two groups.Conclusions:BWSTT combined with FES can best improve the balance, lower-limb motor functioning and walking of hemiplegic stroke survivors.

OBJECTIVE: To explore the genetic basis of four children with congenital hyperinsulinemia (CHI). METHODS: The four children were subjected to high-throughput whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing. RESULTS: WES analysis has identified 4 variants in the ABCC8 gene and 1 variant in GLUD1, including a ABCC8 c.382G>A variant in case 1, compound heterozygous c.698T>C and c.4213G>A variants of the ABCC8 gene concomitant with a de novo 14.9 Mb microduplication of chromosome 15 in case 2, and ABCC8 c.331G>A variant in case 3, and de novo c.955T>C variant of the GLUD1 gene in case 4. Of these, c.698T>C of the ABCC8 gene and c.955T>C of the GLUD1 gene were unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.382G>A(p.Glu128Lys), c.698T>C(p.Met233Thr) and c.4213G>A(p.Asp1405Asn) variants of ABCC8 gene and c.955T>C(p.Tyr319His) variant of GLUD1 gene were predicted to be likely pathogenic(PM1+PM2+PP3+PP4, PM1+PM2+PM5+PP3+PP4, PM1+PM2+PP3+PP4 and PS1+PM1+PM2+PP3), and the c.331G>A (p.Gly111Arg) variant of ABCC8 gene was predicted to be uncertain significance(PM1+PM2+PP4). CONCLUSION The variants of the ABCC8 and GLUD1 genes probably underlay the pathogenesis of CHI in the four patients. Above results have facilitated clinical diagnosis and genetic counseling for the affected families.
Child ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Hyperinsulinism ; Mutation ; Whole Exome Sequencing

Objective To explore the effect of robot assistance on the gait kinematics of hemiplegic persons after a stroke.Methods Forty hemiplegic stroke patients were randomly divided into an experimental group and a control group,each of 20.Both groups were given routine neurological medication and rehabilitation training,while the experimental group was additionally provided with 20 minutes of robot-assisted gait training daily,six times a week,for 8 weeks.Before and after the intervention,both groups' motor function,balance,step length and pace were evaluated,as well as their pelvic rotation angles,side inclination,vertical displacement and lateral displacement.The Fugl-Meyer assessment for the lower extremities (FMA-LE) was used along with the Berg balance scale (BBS),the gait analysis system of Biodex Gait Trainer-2 equipment.Results After the treatment,the average FMA-LE score,BBS score,pace and step length of the experimental group were all significantly better than the before the treatment and significantly better than the control group's averages after the treatment.The improvements observed in the pelvic rotation angle,side inclination,vertical displacement and lateral displacement were all significant.Conclusion Robot assistance can usefully supplement routine rehabilitation training after stroke.It can improve control of the pelvis,enhance walking and balance and generally improve the motor function of the lower extremities.