A phenotype-genotype study of X-linked retinoschisis in RS1 mutations / 中华实验眼科杂志

Objective:To describe the characteristics of genotype and phenotype in 3 families with X-linked retinoschisis (XLRS) due to RS1 mutations. Methods:A cross-sectional approach was adopted.Three XLRS families at the Ningxia Eye Hospital from October 2017 to March 2019 were included.Clinical data and peripheral blood of patients and related families were collected and clinically staged were formulated through a comprehensive eye examination.The disease-causing genes screened by panel sequencing underwent conservative analysis, pathogenicity analysis and protein structure prediction by software tools.Analysis of the mutations pathogenicity was performed according to the American College of Medical Genetics and Genomics guidelines.The research was approved by Medical Ethics Committee of the People's Hospital of Ningxia Hui Autonomous Region and followed the Declaration of Helsinki.Written informed consent was obtained from each participant.Results:Total 5 young male patients and 1 middle-aged patient in these three families.The optical coherence tomography(OCT) findings of 5 young patients showed typical macular retinoschisis, which were characterized by stage I of XLRS.One middle-aged patient (Ⅱ-9) showed a stage Ⅲ lesion of macular atrophy.The mutations of c. 668G>A, c.618G>A and exon 1 deletion in RS1 gene were found in the three families.C223 and W206 were verified to be highly conserved in mammals and were predicted to be pathogenic mutations by software and the change of protein structure.Conservation analysis and prediction of protein structure were not performed for the mutation of exon 1 deletion.All the mutations were pathogenic variants according to the ACGM guidelines. Conclusions:Mutations of c. 668G>A/p.C223Y, c.618G>A/p.W206X and exon 1 deletion in RS1 gene are pathogenic mutations in Chinese XLRS families.The combination of Panel sequencing with pathogenicity analysis and protein structure prediction have important effect to diagnosis and identify the causative genes for the hereditary retinal diseases.

Report of two cases of recurrent scalp dermatofibrosarcoma protuberans and literature review.

Dermatofibrosarcoma protuberans (DFSP) are rare malignant skin tumor, and scalp DFSP is even lesser than 5% of all DFSP, therefore, being seldom reported. We recently treated two cases of recurrent scalp DFSPs. One was a 38-year-old male, who accept lumpectomy for the first time; however, it recurred 9 months later. We then performed a wide excision resulting in no recurrence in the subsequent 4 years. Another patient was a 26-year-old female, who accept an in situ tumorectomy for the first time, and 2 years later; the recurrent mass became 9 × 9 cm in size. We gave her another operation, but only 3 months later local recurrence appeared. For the both cases, we collected their case histories, intraoperative findings, pathologic detections, and follow-up results, all of which may help the dermatologists to extend knowledge about this rare disease. Moreover, an exhaustive review of the literature is included with emphasis on diagnosis, different diagnosis and treatments.

Langerhans cell histiocytosis in the jugular foramen.

Langerhans cell histiocytosis (LCH) is a rare disease of neoplastic proliferation of monocyte-macrophage system. Although LCH can affect almost any organ, solitary involvement of jugular foramen is extremely rare and can present a diagnostic dilemma because of its rarity at this location. Here, we present the case of an adult patient with LCH affecting the jugular foramen, and review the relevant literature.

Large vestibular schwannoma resection through the suboccipital retrosigmoid keyhole approach.

OBJECTIVE: The objective of this study was to retrospectively study the outcomes of large vestibular schwannoma resection through the suboccipital retrosigmoid keyhole approach and emphasize technical details and advantages of surgical resection of large vestibular schwannomas via this approach. METHODS: From January 2010 to September 2012, 37 consecutive patients (16 men and 21 women) with vestibular schwannoma, 4 cm or greater, received surgical resection through the suboccipital retrosigmoid keyhole approach in our department. Clinical records, radiographic findings, operative summaries, and follow-up data were analyzed retrospectively. RESULTS: The mean age of these patients was 45.1 ± 11.6 years. Thirty-six patients underwent primary keyhole surgical removal, and 1 underwent surgery for residual tumor after gamma knife. Gross total tumor removal was accomplished in 35 patients (94.6%), near total resection in 1 (2.7%), and subtotal resection in 1 patient (2.7%). The facial nerve was anatomically intact in all 37 patients (100%). Facial nerve function was assessed in 6 to 12 months after operation. Good function (House-Brackmann facial nerve grade I-II) was present in 81.1% of the patients, whereas acceptable function (grade III) was present in 11.1%. Cerebrospinal fluid (CSF) leakage that required surgical intervention occurred in only 5.4% of the patients, and meningitis occurred in 8.1%. In addition, 3 patients (8.1%) had hydrocephalus requiring a temporary ventricular diversion. There were no deaths. CONCLUSIONS: The suboccipital retrosigmoid keyhole approach is a valid choice for removing large vestibular schwannomas. Through this approach, cerebellopontine angle can be effectively exposed. Skills to protect facial nerve and extensive experience in microsurgical techniques can significantly improve the total resection rate and postoperative facial nerve function. The authors recommend this approach for patients with vestibular schwannomas larger than 3 to 4 cm.

Effects of Louxie mixture on vascular reactivity in atherosclerosis rats / 国际中医中药杂志

Objective To investigate the effect of Chinese medicine Louxie mixture on vascular reactivity in atherosclerosis rats. Methods Forty male rats were randomly divided into four groups: the control group (A group, n＝10) was fed with normal diet; the model group (B group, n＝10), atorvastatin treated group (C group, n＝10 and Louxie mixture group (D group, n＝10) were fed with high fat/cholesterol diet. Atorvastatin 10 mg/kg·d-1 was administered to C group and Louxie mixture to D group for 10 weeks by gavages. Serum endothelin-1 (ET-1), nitric oxide (NO) and nitric oxide syntheses (NOS) were observed in different groups before and after the treatment. Vascular reactivity of aortic rings was measured by both the sodium nitroprusside(SNP)-induced endothelium-independent relaxation (NEDR) and the acetylcholine (Ach)-induced endothelium-dependent relaxation (EDR) in different groups. Results After treatment, the (19.03±1.72)μmol/l; NOS (24.78±0.25)U/ml vs (15.36±0.24U/ml), P＜0.01], while the level of ET-1in B levels of NO and NOS in B group were significantly lower than those in A group [NO(35.73±3.72)μmol/l vs group was higher than that in A group [(34.58±4.00) pg/ml vs (117.58±5.34)pg/ml,P＜0.01]. The levels of NO and NOS were significantly increased and the level of ET-1 was decreased in C and D groups after the treatment [NO(C: 31.30±1.96 umol/l;D: 32.85±3.70 umol/l); NOS (C: 21.96±1.07 U/ml ; D: 19.78± 1.20U/ml ); ET (C:58.26±5.14 pg/ml; D:59.30±5.73 pg/ml), P＜0.01]. The activities of NEDR were similar in four groups[SNP Emax (A: 97.33±1.31; B: 98.24±1.04;C: 97.52±1.09; D: 97.91±1.59)%, P＞0.05], but the level of EDR in the B group (P＜0.01) was the lowest among four groups [Ach Emax (A: 72.65±3.31; B: 32.68±2.39;C: 61.63±2.07; D: 57.58±2.43)%, P＜0.01]. Conclusion Chinese medicine Louxie mixture can protect vascular function in atherosclerosis rats.

Effects of ischemic postconditioning on myocardial cell during ischemia/reperfusion period in rabbits / 中华胸心血管外科杂志

Objective To investigate the effects of ischemic postconditioning (Post) on myocardial cell apoptosis and expres- sion of Bcl-2 and Bax protein during ischemia/reperfusion period in rabbits.Methods Eighteen rabbits were randomly allocated to three groups (6 in each group),sham operation (group S),ischemia/reperfusion group(group IR) and ischemic postconditioning group(group Post).Group IR and group Post were subjected to 15 minutes of left anterior descending coronary artery occlusion followed for 30 minutes of reperfusion.Ischemic postconditioning was achieved by three 30 seconds cycles of reperfusion,each followed by 30 seconds ischemia.Cardiomyocyte apoptosis were determined by in situ TDT-mediated dUTP nick end labeling (TUNEL) and DNA electrophoresis.The expression of Bcl-2 and Bax proteins in apoptotic myocardial cells were detected by immunohistochemistry sepa- rately.Results Compared with group IR,apoptotic index was significantly reduced in group Post [(28.06?2.92) % vs.(55.70? 13.96)%,P