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OBJECTIVE@#To explore the genetic basis for a child with congenital heart disease (CHD) and global developmental delay (GDD).@*METHODS@#A child who was hospitalized at the Department of Cardiac Surgery of Fujian Children's Hospital on April 27, 2022 was selected as the study subject. Clinical data of the child was collected. Umbilical cord blood sample of the child and peripheral blood samples of his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 3-year-and-3-month-old boy, had manifested cardiac abnormalities and developmental delay. WES revealed that he had harbored a nonsense variant of c.457C>T (p.Arg153*) in the NONO gene. Sanger sequencing showed that neither of his parents has carried the same variant. The variant has been recorded by the OMIM, ClinVar and HGMD databases, but not in the normal population databases of 1000 Genomes, dbSNP and gnomAD. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as a pathogenic variant.@*CONCLUSION@#The c.457C>T (p.Arg153*) variant of the NONO gene probably underlay the CHD and GDD in this child. Above finding has expanded the phenotypic spectrum of the NONO gene and provided a reference for the clinical diagnosis and genetic counseling for this family.
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Humans , Male , Child, Preschool , Computational Biology , DNA-Binding Proteins , Genetic Counseling , Genomics , Heart Defects, Congenital/genetics , Mutation , Parents , RNA-Binding Proteins , Developmental Disabilities/geneticsABSTRACT
Objective:To observe and analyze the multimodal imaging characteristics of fundus in patients with sympathetic ophthalmia (SO).Methods:A retrospective study. From October 2012 to December 2021, 28 patients (36 eyes) diagnosed SO in the Department of Ophthalmology, Beijing Tongren Hospital were inclued in the study. There were 19 males (25 eyes) and 9 females (11 eyes), with the mean age of 51.61±12.02 years. There were 8 exciting eyes and 28 sympathizing eyes. The time to onset after trauma or surgery was 46.10±107.98 months. All patients underwent examinations including vision test, color fundus photograph, optical coherence tomography (OCT), fundus fluorescence angiography (FFA), indocyanine green angiography (ICGA). Angio-OCT (OCTA) was performed on 3 eyes and fundus autofluorescence (AF) was performed on 8 eyes. The early and late phase were defined respectively as ≤2 months and >2 months. Their multimodal imaging characteristics were summarized.Results:In 8 exciting eyes, subretinal fibrosis with mutifocal retinal atrophy and pigmentation was noted in 5 eyes (62.50%, 5/8), the other 3 eyes showed sunset glow fundus (37.50%, 3/8). In 28 sympathizing eyes, in the early phase, the fundus photograph showed shallow retinal detachment with optic disc edema in 9 eyes (32.14%, 9/28); in the late phase, peripapillary yellowish-white subretinal lesions in 11 eyes (39.29%, 11/28). In the late course of the disease, there were yellow-white lesions around the optic disc (peridisc) and peripheral subretinal area in 11 eyes (39.29%, 11/28). Dalen-Fuchs nodules were found in 10 eyes (35.71%, 10/28). On OCT, multiple serous retinal detachment and irregular choroidal folds were noted in the early phase; hill-like subretinal hyperreflective elevation was noted in peripapillary area and subfovea with presence of cystic spaces in the intraretina in the late phase. FFA examination showed"pinpoint-like" strong fluorescence in the early stage, and "multi-lake-like" fluorescein accumulation and leakage in the late stage; "map-like" weak fluorescence around the disc in the early stage of the disease, dot-like strong fluorescence lesions in each quadrant of the peripheral retina, and fluorescence in the late stage of the disease course. enhanced. ICGA examination showed that the FFA strong fluorescence lesions in the middle and late stages were weak fluorescence. FAF examination, point-like strong and weak autofluorescence lesions with unclear boundaries. Nine sympathizing eyes with subretinal yellow-white lesions has vision without light-0.1 (significantly decreased vison), while 8 eyes with sunset glow fundus was 0.5-1.0 (mildly decreased vison).Conclusions:SO could not only show the semblable features of acute phases of Vogt-Koyanagi-Harada syndrome, but also the yellowish-white lesions in the peripapillary area, macula and periphery. Most of the eyes with peripapillary lesions has a significantly decreased vison, while the eyes with sunset glow fundus has a mildly decreased vison.
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Objective:To observe the image characteristics of optical coherence tomography (OCT) in patients with primary vitreoretinal lymphoma (PVRL).Methods:A retrospective clinical study. Thirty-two eyes of 19 patients diagnosed with PVRL by vitreous pathology in the Department of Ophthalmology, Beijing Tongren Hospital from September 2016 to October 2019 were included in this study. There were 7 males and 12 females. The median age was 56 years. The mean time from symptom onset to final diagnosis was 6.1±3.8 months. The first diagnosis was uveitis in 12 cases (63.1%, 12/19), retinal vein occlusion in 2 cases (10.5%, 2/19), central retinal artery occlusion in 1 case (5.3%, 1/19), and suspected PVRL of camouflage syndrome in 4 cases (21.1%, 4/19). Routine ophthalmic examination and frequency-domain OCT examination were performed in all the patients, and typical images were stored for analysis. According to the examination results, PVRL OCT signs were divided into vitreous cells, inner retinal infiltration, outer retinal infiltration, retinal pigment epithelial (RPE) infiltration, sub-RPE infiltration, and subretinal fluid.Results:Vitreous cells were found in all eyes (100.0%, 32/32). RPE infiltrated were observed in 19 eyes (59.4%, 19/32), RPE infiltration in 16 eyes (50.0%, 16/32), outer retinal infiltration in 8 eyes (25.0%, 8/32), inner retinal infiltration in 16 eyes (50.0%, 16/32), and subretinal fluid in 4 eyes (12.5%, 4/32).Conclusions:PVRL OCT signs can involve vitreous and retinal anatomical levels, including vitreous cells, inner retinal infiltration, outer retinal infiltration, RPE infiltration, sub-RPE infiltration and subretinal fluid. The same patient can show multiple signs at the same time.
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Objective:To observe the clinical features in Gitelman syndrome (GS) patients with different urinary calcium excretion, and investigate the value of urinary calcium excretion in the clinical classification for GS.Methods:GS cases from the National Rare Diseases Registry System of China (NRSC) (2016-2018) with SLC12A3 gene screened in Peking Union Medical College Hospital were collected. The features of urinary calcium excretion were analyzed, and the phenotypes of patients with hypocalciuria were compared to those without. Hydrochlorothiazide (HCT) test was performed according to the standard process, and the maximal increment of chloride excretion fraction (ΔFECl) was calculated. Results:A total of 83 GS patients were included, among whom 53 (63.86%) patients had hypocalciuria. The ratio of urinary calcium/creatine was significantly lower in patients with hypocalciuria compared to those without [(0.085±0.058) mmol/mmol vs (0.471±0.284) mmol/mmol, t=7.349, P<0.001]. Age, gender, estimated glomerular filtration rate, blood pressure, serum and urinary electrolytes, and alkalosis were all comparable between groups. Fatigue ( χ2=4.595, P=0.032) and polyuria ( χ2=5.778, P=0.016) were less frequently reported in hypocalciuria patients, while all the other clinical symptoms were comparable. Sixteen patients in each group underwent HCT test, and the median value of ΔFECl was comparable between patients with and without hypocalciuria [0.539%(0.430%, 1.283%) vs 0.829% (0.119%,1.298%), U=130.000, P=0.956], both of which indicated no response to HCT. Conclusions:The proportion of low urinary calcium in GS patients is 63.86%. There is no definite relationship between urinary calcium excretion, phenotype and the extent of NCC dysfunction.
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Objective:To observe the thickness distribution of retina outer nuclear layer (ONL) by directional optical coherence tomography (D-OCT), and analyze variation of ONL thickness with age, gender and anatomical location.Methods:Cross sectional observational study. From August 2017 to January 2019, the patients were included who had no abnormal eyes in Beijing Tongren Hospital, and healthy volunteers were included in the study. Cirrus HD-OCT 5-line single line scanning mode was used to scan the macular area horizontally and vertically. The pupil diameter of all the tested eyes was more than 6 mm. The protocol was approved by The Medical College of Wisconsin Institutional Review Board. The detection light was incident on the temporal, nasal, upper and lower sides about 1.5 to 2.0 mm away from the pupil center to obtain an image that was oblique and clearly showed the Henle fiber layer (HFL). The upper and lower bounds of HFL and external limiting membrane (ELM) were manually labeled. The thickness of ONL and HFL+ONL were measured and recorded at 150 μm intervals on the horizontal and vertical radial lines with the fovea as the midpoint. The thickness of ONL in different anatomic location, ages and genders were compared. The influence of age and gender on ONL were analyzed by one-way ANOVA and independent sample t test respectively.Results:67 eyes of 67 subjects were enrolled. Among them, the mean age of 27 males (27 eyes) and 40 females (40 eyes) was 38.48±15.33 and 40.98±17.78 years respectively without significantly statistical difference ( t=-0.582, P=0.562). The total mean age was 39.97±16.98 years old. There were 11, 22, 22 and 12 patients aged less than 20, 20-39, 40-59 and over 60 years old respectively, according which they were divided into A, B, C and D groups. According to the anatomical location, the thickness of the ONL reached a maximum in the foveola, and then decreased as the eccentricity increased. Horizontally, ONL/ONL+HFL reached the minimum as 36.1% at 0.90 mm on the nasal side, while the minimum was 38.3% at 0.75 mm on the temporal side. Vertically, ONL/ONL+HFL reached the minimum as 36.2% at 0.75 mm inferiorly and 35.6% at 0.9 mm superiorly. There was no significant difference in the ONL thickness of fovea between group A, B,C and D ( P>0.05), however, a significant difference was among the four groups in the parafoveal and the perifovea ( P <0.05). The ONL thickness of the male was larger than that of the female, and the differences between them in parafoveal and perifovea showed statistically significant ( P<0.05). Conclusions:Normal people had the thickest ONL in the fovea. While the location is farther from the fovea, the ONL is thinner. The thickness of ONL in parafovea and perifovea is gradually thin with incerase of age. The thickness of ONL in the male is thicker than that in the female.
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Objective:To investigate the clinical, ophthalmological and pathological features of primary uveal lymphoma.Methods:Retrospective clinical study. From 2012 to 2018 in Beijing Tongren Eye Cener, 4 cases and 4 eyes of patients with primary uveal lymphoma were included in the study. Among them, 3 cases were male and 1 case was female. The average age was (54 ± 13.58) years old. The average time from initial diagnosis to pathological diagnosis was (18.50 ± 9.29) months. 3 cases were enucleated and 1 case was biopsied. Extranodal marginal zone lymphoma (EMZL) of the mucosa associated lymphoid tissue (MALT) was confirmed by pathological examination. BCVA, fundus color photography, color Doppler ultrasound and orbital MRI were performed in all eyes. UBM, OCT, FFA and ICGA were performed in 2 eyes, 3 eyes, 3 eyes and 2 eyes respectively. The clinical, imaging and pathological changes were observed. Following up time was ≥ 6 months.Results:At the initial diagnosis, BCVA was 0.6, 0.02 and 0.01 in 1, 2 and 1 eye respectively. Choroid, ciliary body and iris were involved in 3 eyes, choroid in 1 eye. The fundus of the eyes showed infiltration of choroid in yellow and white color, and the lesions were beyond the vascular arch to the equator and peripheral areas. Color Doppler ultrasonography showed that choroidal diffuse thickening and extrascleral extension (ESE) which was the corresponding hypoechoic areas behind the sclera. Among them, ESE showed crescent thickening in 1 eye and nodular thickening in 3 eyes. UBM showed that the echo of ciliary body was thicken and the internal echo was decreased with the iris involved. OCT showed that RPE was wavy and local retinal neuroepithelial layer detached. FFA showed that the early lesions were mottled with strong and weak fluorescence, and the late fluorescence leakage. The posterior wall of the eyeball was thickened and enhanced in MRI.Conclusion:The clinical manifestations of uveal lymphoma are various, color Doppler ultrasound has characteristic manifestations and ESE of crescent or nodular thickening is valuable in diagnosis.
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Torpedo maculopathy is a rare, congenital lesion of RPE, which locates temporal to the macula and along the horizontal raphe. The lesion is torpedo-shaped with its torpedo-like tip pointing towards the fovea. As an incidental finding, it often affects only one eye with no damage to central visual acuity. According to its characteristics on OCT, it is divided into 2 types: type Ⅰ , attenuation of outer retinal structures without outer retinal cavitation; type Ⅱ, those with both attenuation of outer retinal structures and outer retinal cavitation. Diseases with pigment changes in the RPE layer similar to torpedo maculopathy include congenital hypertrophy of the RPE, RPE lesions in Gardner syndrome, etc. The main point to distinguish the disease from other diseases is its unique location and shape. Most of the torpedo maculopathy lesions are stable and do not require special treatment, but the disease can be complicated by neurosensory retinal detachment, choroidal neovascularization and so on, and symptomatic treatment is needed if necessary.
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OCT angiography (OCTA) is a fast,noninvasive and quantifiable new technique,which is especially suitable for long-term follow-up in patients with hereditary retinochoroidal degeneration,such as retinitis pigmentosa,Best vitelliform macular dystrophy,adult onset foveomacular vitelliform dystrophy,doyne honeycomb retinal dystrophy,choroideremia and Stargardt disease.During the follow-up,clinicians can find the subtle signs that explain disease development from the blood flow imaging,quantitatively describe the vascular density,timely detect and treat choroidal neovascularization.It is significant to explore the etiology and monitor the course of these diseases.With the development of more treatments for these diseases,OCTA parameters can also be used as indicators to evaluate and compare different therapeutic effects.In the future,more quantitative indicators of OCTA will be applied to evaluate the course of hereditary retinochoroidal degeneration,and provide valuable basis for early diagnosis and treatment.
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BACKGROUND: Studies have shown that bone marrow mesenchymal stem cells (BMSCs) can differentiate into nucleus pulposus-like cells, but the mechanism of differentiation is not clear. OBJECTIVE: To induce bone BMSCs into nucleus pulposus-like cells using Achyranthes bidentata Bl. saponins (ABS) and to explore the role of Nampt/NAD/Sirt1 axis in the differentiation of BMSCs. METHODS: BMSCs were collected from Sprague-Dawley rats. Cells at passage 3 were divided into four groups: BMSCs group, BMSCs+ABS group, BMSCs+ABS+nicotinamide mononucleotide (an exogenous small molecule substance promoting NAD synthesis) group, BMSCs+ABS+FK866 (nicotinamide phosphoribosyltransferase inhibitor) group, in which the cells were induced for 14 days. Alcian blue staining was used to show the changes of glycosaminoglycan in the cells. RT-PCR was used to detect the mRNA expression of COL2, Aggrecan, KRT19, Pax1. The protein expression level of COL2 was detected by western blot. The activity of Sirt1 was detected by Sirt1 assay kit and the content of NAD+ was measured by NAD+/NADH kit. RESULTS AND CONCLUSION: (1) Compared with the BMSCs group, BMSCs+ABS group showed significant increases in the expression levels of glycosaminoglycan, Aggrecan, KRT19, and Pax1 (P < 0.05), and the protein expression levels of COL2, activity of Sirt1, and content of NAD+ were also significantly increased (all P < 0.05). (2) Compared with the BMSCs+ABS group, the above-mentioned indicators were significantly increased in the BMSCs+ABS+nicotinamide mononucleotide (P < 0.05); on the contrary, these indicators were all decreased significantly in the BMSCs+ABS+FK866 group (P < 0.05). To conclude, ABS could induce the differentiation of rat BMSCs into nucleus pulposus-like cells, in which the Nampt/NAD/Sirt1 axis might play a promotion role.
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BACKGROUND: Studies have shown that bone marrow mesenchymal stem cells (BMSCs) can differentiate into nucleus pulposus-like cells, but the mechanism of differentiation is not clear. OBJECTIVE: To induce bone BMSCs into nucleus pulposus-like cells using Achyranthes bidentata Bl. saponins (ABS) and to explore the role of Nampt/NAD/Sirt1 axis in the differentiation of BMSCs. METHODS: BMSCs were collected from Sprague-Dawley rats. Cells at passage 3 were divided into four groups: BMSCs group, BMSCs+ABS group, BMSCs+ABS+nicotinamide mononucleotide (an exogenous small molecule substance promoting NAD synthesis) group, BMSCs+ABS+FK866 (nicotinamide phosphoribosyltransferase inhibitor) group, in which the cells were induced for 14 days. Alcian blue staining was used to show the changes of glycosaminoglycan in the cells. RT-PCR was used to detect the mRNA expression of COL2, Aggrecan, KRT19, Pax1. The protein expression level of COL2 was detected by western blot. The activity of Sirt1 was detected by Sirt1 assay kit and the content of NAD+ was measured by NAD+/NADH kit. RESULTS AND CONCLUSION: (1) Compared with the BMSCs group, BMSCs+ABS group showed significant increases in the expression levels of glycosaminoglycan, Aggrecan, KRT19, and Pax1 (P < 0.05), and the protein expression levels of COL2, activity of Sirt1, and content of NAD+ were also significantly increased (all P < 0.05). (2) Compared with the BMSCs+ABS group, the above-mentioned indicators were significantly increased in the BMSCs+ABS+nicotinamide mononucleotide (P < 0.05); on the contrary, these indicators were all decreased significantly in the BMSCs+ABS+FK866 group (P < 0.05). To conclude, ABS could induce the differentiation of rat BMSCs into nucleus pulposus-like cells, in which the Nampt/NAD/Sirt1 axis might play a promotion role.
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Objectives To compare the clinical characteristics, long - term survival and associated risk factors of automated peritoneal dialysis (APD) patients and continuous ambulatory peritoneal dialysis (CAPD) patients. Methods As a retrospectively study, adult patients started peritoneal dialysis in Peking Union Medical College Hospital (PUMCH) from September 1st, 2002 to September 30th, 2016 were enrolled. Baseline information and dialysis associated parameters were collected. The primary outcome was death and the secondary outcome was technical failure. The risk factors of death were analyzed in APD patients by Cox's regression model. Homochromous gender and age matched CAPD patients were analyzed as control. Results The baseline condition of 69 APD patients were similar to those of 138 CAPD patients. The survival rates of APD patients at 1-year、3-year and 5-year were 95.4%, 88.0% and 73.0% respectively, which were superior to CAPD patients. No significant difference in technical survival was found between APD and CAPD patients. Single-factor Cox's regression analysis showed that all-cause mortality of CAPD patients was 2.2 times higher than that of APD patients (95% CI 1.221-3.837). In the multi-factor Cox regression analysis model, adjusted by age, complications (including cardiovascular disease and diabetes), nPCR and serum creatinine, dialysis modality was not an independent risk factor of dialysis patients. Age (HR=1.077, 95%CI 1.016-1.142, P=0.013), diabetes (HR=3.608, 95%CI 1.117-11.660, P=0.032) and serum albumin (HR=0.890, 95%CI 0.808-0.982, P=0.020) were independently associated with all-cause death of APD patients. Conclusions Dialysis modality was not an independent risk factor for the all-cause mortality of peritoneal dialysis patients. Age, diabetic nephropathy and hypoalbuminemia were independently associated with the death of APD patients.
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Objective To explore the curative effect of stomatitis spray combined with 3M liquid dressing on degree II red buttocks in infants and summarize key points of nursing care. Methods From April 2012 to June 2016, 64 infants with degree II red buttocks were treated in our department. According to the admission time, the infants were divided into control and experiment groups in equal number. The control group was treated with zinc oxide ointment, and the experiment group with stomatitis spray combined with 3M liquid dressing. The curative effect, total effective rate, and wound healing time were compared after treatment between the groups. Results The curative effect and total effective rate of red buttocks in the experiment group were significantly better than those of the control group (P<0.05). Moreover, the wound healing time in the experiment group was obviously shorter than that of the control (P<0.05). Conclusions Compared to zinc oxide ointment, the stomatitis spray combined with and 3M liquid dressing is more effective in the treatment of severe red buttocks of the infants. Moreover, the latter is advantageous in wound healing time, compliance, treatment, and curative effect, which indicates its potential application in clinic.
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Objective To observe the effect of adenosine A1 receptor (A1AR) on the megalin defect in type 1 diabetic mice with early kidney disease.Methods 7-8 week-old,baseline body weight and fasting blood glucose matched wild type (WT) C57BL/6J mice were selected,and randomly divided into two groups:control group (n=6) and WT DM group (n=6).In the same way,male A1AR knock-out C57BL/6J mice were selected as A1AR-/-DM group (n=6).DM model was established by intraperitoneal injection of streptozocin.The blood glucose (BG),body weight (BW),kidney weight (KW),24 h proteinuria (24hUP) and albumin creatine ratio (ACR) were measured at 4 weeks.The renal pathological lesion was observed and the expression of megalin in proximal tubules was examined by immunohistochemistry.The expression of caspase-1,IL-18 and A1AR were detected by Western blotting.Results At 4th week,compared with WT control mice,the BG,BW,KW and 24hUP of WT DM mice were increased significantly (n=6,P ＜ 0.01),with the pathological glomerular enlargement,mesangial cell proliferation,extracellular matrix accumulation and renal tubule hypertrophy being observed.Immunohistochemistry revealed decreased expression of megalin,an important multiligand protein receptor on the brush border of proximal tubular epithelial cells in WT DM mice,which was correlated with 24hUP (r=-0.645,P ＜ 0.01).Compared with the control mice,the expressions of caspase-1,IL-18 and A1AR were significantly increased in WT DM mice (P ＜ 0.05).For A1AR-/-DM mice,more serious pathological lesion and megalin defect,together with increasing of casapase-1 and heavier proteinuria were observed than those in WT DM mice.Conclusion A1AR may play a protective role in megalin expression of diabetic mice with early kidney disease,in which the mechanism may be associated with caspase-1 related pyroptosis pathway.The details need further exploration.
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Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5).The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria.Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios,polyuria,nephrocalcinosis and hypokalemia,which was alleviated after treatment with celecoxib and vitamin D3.DNA sequencing identified compound heterozygous KCNJ1 gene mutations,c.931 C ＞ T (p.R311 W) and c.445-446insCCTGAACAC (p.V149Afs,150X),with the latter a novel mutation.Her father and mother were heterozygous carriers of c.931C ＞ T (p.R311W) and c.445-446insCCTGAACAC (p.V149Afs,150X),respectively.In conclusion,this case of BS type 1 is caused by a novel compound heterozygous KCNJ1 mutation.Further studies are needed to verify the effect of celecoxib in BS patients.
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Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5).The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria.Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios,polyuria,nephrocalcinosis and hypokalemia,which was alleviated after treatment with celecoxib and vitamin D3.DNA sequencing identified compound heterozygous KCNJ1 gene mutations,c.931 C ＞ T (p.R311 W) and c.445-446insCCTGAACAC (p.V149Afs,150X),with the latter a novel mutation.Her father and mother were heterozygous carriers of c.931C ＞ T (p.R311W) and c.445-446insCCTGAACAC (p.V149Afs,150X),respectively.In conclusion,this case of BS type 1 is caused by a novel compound heterozygous KCNJ1 mutation.Further studies are needed to verify the effect of celecoxib in BS patients.
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Objective To explore effect of rehabilitation training on deglutition disorders of children with cerebral palsy . Methods Twenty-seven children patients from January to June in 2013 were set as control group and thirty-one patients from July 2013 to January 2014 as experiment group. The children in the control group were treated with tube-feeding combined with spoon feeding and bottle-feeding by professional nurse. Children in the experiment group were treated with oral rehabilitation training by professional therapists and nurses apart from the same feeding as in the control group. The two groups were compared in terms of effect of deglutition within 4 weeks, time and rate of removing the stomach tube. Results The recovery of deglutition function in the experiment group was much better than that in the control group , the total effective rate and rate of removing the stomach tube within 3 months were higher and the intubation duration was significantly lower as compared with those of the control group (P < 0.01). Conclusion Rehabilitation training can improve the recovery of deglutition disorders, improve active feeding ability of children with cerebral palsy, shorten time of tube feeding and improve their life quality.
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The retinal vessel changes are the primary and major features of retinal vascular diseases.The retinal vessel is part of systemic vessels with its own characteristics to sustain normal retinal function.These basic characteristics are important to the correct understanding and proper treatment of retinal vascular diseases.Always keep in mind that the retinal vessels is one part of the systemic vascular system,thus retinal vascular diseases may have systemic etiology,and systemic drug administration may have a profound effects to the whole body.However retinal vascular system also has its own structural and functional characteristics,thus retinal vascular diseases are also different from the systemic diseases.Finally the main function of retinal vascular network is to maintain the neuro-retinal function,thus we should balance the vision protection and treatments against abnormal retinal blood vessels.Over-treatments may damage the retinal vision.
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<p><b>BACKGROUND</b>Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disease, and information about BBS in Chinese populations is very limited. The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family.</p><p><b>METHODS</b>Clinical data were recorded for the 4-year-old female proband and the available family members. The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12). The variants detected in the proband were further confirmed in the other family members.</p><p><b>RESULTS</b>We identified a novel homozygous nonsense mutation (c.70A>T, p.K24X) in the BBS4 gene exon 2 in the proband. Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein, and probably induced the nonsense-mediated decay of BBS4 messenger RNAs. The proband's parents and brother were heterozygous for the nonsense mutant allele. It was absent in 50 Chinese control subjects. An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband, her father and her brother. Some manifestations of the proband including atypical retinitis pigmentosa, choroidal sclerosis, high myopia, and early onset of obesity might be associated with this mutation in BBS4 gene. The proband's father also reported surgical removal of an extra finger during childhood.</p><p><b>CONCLUSIONS</b>The present study described a novel nonsense mutation in BBS4 gene in a Chinese family. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein. We also detected a rare heterozygous missense SNP in BBS10 gene in the family, but did not find sufficient evidence to support the triallelic inheritance.</p>
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Child, Preschool , Female , Humans , Bardet-Biedl Syndrome , Genetics , Codon, Nonsense , Genetics , Proteins , GeneticsABSTRACT
Objective To study the effect of quality ciecle on improving nurses application ablitiy in operating monitors. Methods Quality circle group was established in the department of general surgery and the circulation of plan-do-check-action was used in the groups for continuous quality control of ECG monitor application.The satisfaction of nurses with ECG monitor management and consuming time of ECG monitor installation were compared between pre-and post-enforcement of quality control circulation. Results After use of quality control circulation,the nurses were more satisfied with the maintenance of ECG monitoring and they knew better about their right storage and disposition and where the monitors were(all P<0.001).Conclusion The quality circle may effectively regulate ECG monitor management,improve applying proficiency of nurses and effectively improve work efficiency,so it is worth clinically applying.
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Objective To observe the clinical manifestations,therapeutic efficacy and results of bacterial culture of seven patients of scleral buckle (SB) infection after scleral bulking surgery.Methods Seven patients (seven eyes) underwent SB removal for SB infections were enrolled in this study.The patients included four males (four eyes) and three females (three eyes).The patients aged from 12 to 69 years,with a mean age of 42.7 years.There were four right eyes and three left eyes.The duration (interval between primary surgery and SB removal) ranged from two weeks to ten years,with a mean of 47.5months.Six patients were concurrent with systemic disease.All the patients were examined for visual acuity,slit lamp microscope and indirect ophthalmoscope examination.Some patients also received external eye examination and fundus photography.Whether SB exposure or not and the clinical manifestations were observed.SB removal was performed in all the patients and the SB were sent to the laboratory for bacterial culture.The follow-up time ranged from two weeks to eight months,with a mean of 3.2 months.Whether infections recurrence and retinal detachment or not were observed.Results SB exposure was in three eyes.Obvious ocular pain and swelling,conjunctival hyperemia and visible yellow-white discharge in the conjunctival sac were presented in two eyes; irritation and discharge were in one eye.No SB exposure was in four eyes.Ocular pain and swelling,conjunctival hyperemia and visible yellow-white discharge in the conjunctival sac were presented in two eyes.Repeated subconjunctival hemorrhage and diplopia were presented in one eye.Visual acuity decline,conjunctival sac discharge and total retinal detachment were in one eye.All patients had no intraocular inflammation.The infection was controlled after SB removal and the retina was attached during the follow up.The bacterial culture were all positive,which included Staphylococcus aureus,Staphylcoccus epidermidis and Erysipelothrix rhusiopathiae,Gram positive corynebacterium,Aspergillus flavus,Kocuria roseus,Streptococcus oralis,Maxwell Corynebacterium.Conclusions The clinical manifestations of SB infection and the pathogenic microorganisms are variable.SB removal can control the infection.