Objective To analyze the pathogenic gene and clinical phenotypes of a family affected with rare sector retinitis pigmentosa (sector RP). Methods A retrospective clinical study. A patient with sector RP diagnosed in Renmin Hospital of Wuhan University and his parents were included in the study. Detailed medical history was collected; best corrected visual acuity (BCVA), fundus color photography, autofluorescence (AF), visual field, optical coherence tomography (OCT), electroretinogram, fluorescein fundus angiography (FFA), indocyanine green angiography (ICGA) examination were performed. The peripheral venous blood of the patient and his parents were collected, and DNA was extracted. A whole exon sequencing was used for the proband. The mutations were verified by targeted Sanger sequencing and quantitative polymerase chain reaction. Bioinformatics analysis and cosegregation analysis were performed. ResultsThe proband, a 17-year-old male, had presented with gradually decreased vision in the past 2 years with BCVA of 0.4 in both eyes. Retinal vessels attenuation and macular dystrophy without obvious pigmentation on the fundus were observed. AF showed, in bilateral eyes, a symmetrical hypo-autofluorescent region only in the inferonasal quadrant and “petal-like” hyper-AF macula. The visual field examination showed defects in the superotemporal quadrant corresponding to the affected retina. OCT showed loss of the photoreceptor layer except for the foveal region. Electroretinogram examination presented reduced scotopic wave peaks and extinct photopic response. FFA and ICGA showed the atrophy retinal pigment epithelium around the optic disk and in the inferior retina. The clinical phenotypes of the parents were normal. The whole exon sequencing identified one mutation in SPATA7 gene, c.1112T>C (p.Ile371Thr) in exon10 and a copy number variation in trans. The missense mutation resulted in the change of isoleucine to threonine at amino acid 371 in the encoded SPATA7 protein, and the mother carried this heterozygous mutation c.1112T>C. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for classification of genetic variants, the missense mutation was classified as the uncertain significance. The CNV, originating from his father, contributed to the loss of exon10 and was confirmed as the likely pathogenic variant. ConclusionsThe macula can be involved in sector RP, leading to the macular dystrophy. The missense variant in SPATA7 gene, c.1112T>C (p.Ile371Thr), might be a pathogenic mutation site in this pedigree.
Objective To investigate the effect of myoblast transplantation on duchenne muscular dystrophy (DMD) and to explore the method and feasibil ity of applying gene therapy to DMD. Methods Myoblast of C57/BL10 mice were cultured using multiple-step enzyme digestion method and differential velocity adherent technique. The morphology of the cells was observed with inverted phase contrast microscope. The cells at passage 4 were labeled with 5-BrdU. Twenty-four DMDmodel mice (mdx mice: aged 4-6 weeks, male, 13.8-24.6 g) were randomly divided into two groups (n=12 per group): group A, 1 × 106/mL labeled myoblast were injected via ven caudal is twice at an interval of 2 weeks; group B: 1 mL DMEM/F12 was injected in the same manner serving as a control group. The mice were killed 4 weeks after operation and the motor abil ity of the mice was detected by one-time exhaustive swimming before their death. HE staining and immunohistochemistry staining observation for 5-BrdU, desmin, and dystrophin (Dys) were preformed, and the imaging analysis was conducted. Results The primary myoblast could be sub-cultured 5-7 days after culture, providing stable passage and sufficient cells. The time of onetime exhaustive swimming was (60.72 ± 5.76) minutes in group A and (47.77 ± 5.40) minutes in group B, there was significant significance between two groups (P lt; 0.01). At 4 weeks after injection, HE staining showed that in group A, there were round and transparent-stained myocytes and the percentage of centrally nucleated fibers (CNF) was 67%; while in group B, there were uneven muscle fiber with such pathological changes as hypertrophia, atrophia, degeneration, and necrosis, and the percentage of CNF was above 80%. Immunohistochemistry staining revealed that the expression of 5-BrdU, desmin, and Dys was positive in group A; while in group B, those expressions were l ittle or negative. Image analysis result displayed that integral absorbency (IA) value of desmin was 489.70 ± 451.83 in group A and 71.15 ± 61.14 in group B (P lt; 0.05) and the ratio of positive area to thetotal vision area was 0.314 3 ± 0.197 3 in group A and 0.102 8 ± 0.062 8 in group B (P lt; 0.05); the Dys IA value was 5 424.64 ± 2 658.01 in group A and 902.12 ± 593.51 in group B (P gt; 0.05) and the ratio of positive area to the total vision area was 0.323 7 ± 0.117 7 in group A and 0.035 2 ± 0.032 9 in group B (P lt; 0.05). Conclusion Myoblast transplantation has certain therapeutic effect on DMD of mice.
ObjectiveTo systematically review the accuracy of the global leadership initiative on malnutrition (GLIM) in screening patients with cancer malnutrition. MethodsThe PubMed, Web of Science, Cochrane Library, Embase, CNKI, WanFang Data, SinoMed, and VIP databases were electronically searched to collect diagnostic tests related to the objectives from January 2019 to March 2024. Two researchers independently screened the literature, extracted data, and assessed the risk of bias of the included studies. Meta-analysis was then performed using Stata 15.0 software. ResultsA total of 12 studies were included. The results of the meta-analysis showed that GLIM criteria for the diagnosis of malnutrition had a sensitivity of 0.69 (95%CI 0.63 to 0.76), specificity of 0.90 (95%CI 0.83 to 0.95), positive likelihood ratio of 7.18 (95%CI 4.17 to 12.35), negative likelihood ratio of 0.34 (95%CI 0.28 to 0.41), diagnostic odds ratio of 21.21 (95%CI 11.96 to 37.62), and area under the curve of 0.84 (95%CI 0.80 to 0.87). ConclusionCurrent evidence suggests that the GLIM criteria have diagnostic value as a tool for malnutrition in cancer patients, with moderate overall diagnostic efficacy.
ObjectiveTo observe the clinical features of late-onset cone dystrophy (LOCD). MethodsEleven patients (15 eyes) of LOCD were enrolled in this study. The patients included 7 males and 4 females. The age was ranged from 50 to 79 years, with a mean age of 60.2 years. There was no obvious photophobia and hemeralopia. The visual acuity was less than or equal to 0.05 in 4 eyes, 0.06-0.2 in 5 eyes, 0.3-1.0 in 6 eyes. Visual acuity, slit lamp microscope, indirect ophthalmoscopy, flash electroretinogram (FERG) and multifocal electroretinograms (mfERG) were examined for all patients, fundus fluorescein angiography (FFA) for 11 eyes, optical coherence tomography (OCT) and chromoptometry for 6 eyes. ResultsThere were 6 eyes with red/green color blindness, 2 eyes with color weakness. Normal fundus was found in 11 eyes, while derangement of macular pigment epithelial in 4 eyes. FFA results showed that there were 5 eyes with normal fundus, 4 eyes with blocked fluorescent spots, 2 eyes with oval macular atrophy. FERG results showed that in cone response, the amplitude was lower in 6 eyes (including mild decrease in 4 eyes, moderate decrease in 1 eye and severe decrease in 1 eye); both in cone and rod response, the amplitude were lower in 9 eyes. mfERG results showed that central part of the cone (less than 7 degree from the center) was damaged in 5 eyes, both central and peripheral part (outside of 7 degree) of the cone were damaged in 10 eyes. OCT results showed that pigment derangement in 3 eyes, fovea was normal in 8 eyes, thinned in 5 eyes (foveal thickness was 83-111 μm). ConclusionsThe fundus manifestations of LOCD patients are variable, from normal fundus to oval macular atrophy. FERG is abnormal, which mainly in cone response at early stage and both in cone and rod response at late stage. Central part and (or) peripheral part of the cone are abnormal by mfERG.
Objective To observe the efficacy of photodynamic therapy for vitelliform macular dystrophy(VMD) with choroidal neovascularization(CNV). Methods The clinical data of 7 patients (7 eyes) of VMD with CNV who had undergone photodynamic therapy (PDT) were retrospectively analyzed. The patients were 4 males and 3 females, aged from 20 to 54 years. The patients received the examinations of best corrected visual acuity (BCVA), slitlamp microscopy, fundus photography, fluorescein angiography (FFA), indocyanine green angiography (ICGA), spectral domain OCT(SD-OCT), electrooculogram（EOG）and electroretinogram (ERG)before and after PDT. The BCVA ranged from finger counting to 0.6. Retinal edema and the subretinal fluid were observed. The mean thickness of central retina was (506.00plusmn;30.71) mu;m. PDT was performed according to the standard treatment. The follow-up period ranged from 2 to 11 months with the mean of 6.3 months. The changes of BCVA, CNV and side effects were observed after treatment. Results BCVA improved in all patients ranging from 0.12 to 1.0. The regression of the CNV and resolution of the subretinal fluid were observed by FFA, ICGA and SD-OCT after PDT. The mean thickness of central retina was reduced to (401.00plusmn;52.22) mu;m. There was no PDTassociated ocular or systemic side effect. Conclusions PDT is an effective and safe treatment for VMD with CNV. It may improve or stabilize the visual acuity.