Automated detection of steps in videos of strabismus surgery using deep learning.

BACKGROUND: Learning to perform strabismus surgery is an essential aspect of ophthalmologists' surgical training. Automated classification strategy for surgical steps can improve the effectiveness of training curricula and the efficient evaluation of residents' performance. To this end, we aimed to develop and validate a deep learning (DL) model for automated detecting strabismus surgery steps in the videos. METHODS: In this study, we gathered 479 strabismus surgery videos from Shanghai Children's Hospital, affiliated to Shanghai Jiao Tong University School of Medicine, spanning July 2017 to October 2021. The videos were manually cut into 3345 clips of the eight strabismus surgical steps based on the International Council of Ophthalmology's Ophthalmology Surgical Competency Assessment Rubrics (ICO-OSCAR: strabismus). The videos dataset was randomly split by eye-level into a training (60%), validation (20%) and testing dataset (20%). We evaluated two hybrid DL algorithms: a Recurrent Neural Network (RNN) based and a Transformer-based model. The evaluation metrics included: accuracy, area under the receiver operating characteristic curve, precision, recall and F1-score. RESULTS: DL models identified the steps in video clips of strabismus surgery achieved macro-average AUC of 1.00 (95% CI 1.00-1.00) with Transformer-based model and 0.98 (95% CI 0.97-1.00) with RNN-based model, respectively. The Transformer-based model yielded a higher accuracy compared with RNN-based models (0.96 vs. 0.83, p < 0.001). In detecting different steps of strabismus surgery, the predictive ability of the Transformer-based model was better than that of the RNN. Precision ranged between 0.90 and 1 for the Transformer-based model and 0.75 to 0.94 for the RNN-based model. The f1-score ranged between 0.93 and 1 for the Transformer-based model and 0.78 to 0.92 for the RNN-based model. CONCLUSION: The DL models can automate identify video steps of strabismus surgery with high accuracy and Transformer-based algorithms show excellent performance when modeling spatiotemporal features of video frames.

Characteristics and Source Apportionment of Volatile Organic Compounds in a Coastal Industrial Area: A Case Study in the Yangtze River Delta of China.

In recent years, the coastal area in East China has experienced elevated volatile organic compounds (VOCs) levels during specific periods. VOCs have become one of the major atmospheric pollutants in these areas. In this study, 64 compounds including alkanes, alkenes, halohydrocarbons, aromatics, and oxygenated VOCs (OVOCs) were obtained by the TO-15 method through a 12-month campaign in industrial, urban and suburban areas in the Yangtze River Delta of China. The overall trends of total VOC (TVOC) concentrations at eight sampling sites were as follows: winter > autumn > spring > summer. The proportion of VOC categories was various at industrial sites, while OVOCs and halohydrocarbons had high proportions at urban sites and suburban sites, respectively. Coating, vehicle emission, petrochemical source, industrial source, and gasoline volatilization were identified as the major VOC emission sources by the positive matrix factorization model. Petrochemical and coating sources were the prime VOC sources at industrial sites. Aromatics contributed the most ozone formation potential at industrial sites, while OVOCs provided the main contributions at both urban and suburban sites during four seasons. According to the health risk assessment, a high probability of non-carcinogenic risk existed at three industrial sites. Special attention should be given to certain VOCs, such as acrolein and 1,2-dibromoethane in industrial areas.

Surgical outcomes and observation in exotropia cerebral palsy children with cortical visual impairment.

PURPOSE: Cortical visual impairment (CVI) is the common cause of pediatric visual impairment in cerebral palsy (CP) while exotropia is the most common strabismus associated with CP. We aim to observe the strabismic surgery outcomes in pediatric patients with CP and CVI. METHOD: Our medical records were collected from pediatric patients treated in our hospital from May 1, 2017 to Jan 1, 2022. With normal intelligence assessment and diagnosis of exotropia in children with CP and CVI, microsurgeries were performed under intravenous combined inhalation anesthesia. The strabismus was examined by the prism test under best vision correction and the contrast sensitivity testing (CST) was measured at five levels of spatial frequencies. RESULT: A total of 38 exotropia patients with CP and CVI were identified and included for analysis during the study period with age ranged from 5 to 12 years (mean 8.45 years) and mean follow up duration was 8.7 months (6-42 months). After bilateral lateral rectus recession (with/without medial rectus resection or inferior oblique transposition), the exotropia amount of participants were obviously revealed from - 30 ~ - 140 (median, IQR: - 50, 40) prism diopters (PD) preoperatively to 0 ~ - 15 (0, 5) PD postoperatively. Statistically significantly improvements were observed at all levels of spatial frequency on CST postoperatively, especially at high spatial frequency areas (p < 0.05). CONCLUSION: Our results demonstrated that the effect of strabismus surgery on exotropia in children with CP and CVI were stable and monocular contrast sensitivity post- operation increased significantly at all spatial frequencies levels.

Outcome of Selective Renal Artery Embolization in Managing Severe Bleeding after Percutaneous Nephrolithotomy.

OBJECTIVES: The aim of this study was to evaluate the characteristics of the renal arterial segment bleeding and assess the outcome of selective renal artery embolization (SRAE). METHODS: Data on 35 patients in whom SRAE was performed after percutaneous nephrolithotomy (PCNL) from January 2005 to December 2015 in our institute were retrospectively analyzed. All patients had severe bleeding but failed to respond to conservative therapy. RESULTS: Forty-four SRAEs were performed in 35 patients (36 kidney units) after PCNL. The findings of 44 renal arteriographies before embolization revealed bleeding in 44 renal artery branch segments. Upper artery segment bleeding in 0, upper and anterior segment bleeding in 3, lower and anterior artery segment bleeding in 6, lower artery segment bleeding in 9, posterior artery segment bleeding in 24, and negative finding in 2 patients. Renal arteriography revealed pseudoaneurysms in 20 (45.5%) patients, arteriovenous fistulas in 6 (13.6%) patients, renal artery branch laceration in 16 (36.4%) patients, and negative angiography finding in 2 (4.5%) patients. Acute bleeding in 7 patients (20.0%) and delayed bleeding in 28 patients (80.0%) were observed. The target vascular lesions were successfully treated by embolization in the first time in 28 cases. Six patients underwent 2 sessions and 1 had 3 sessions. New vascular lesions were the most common cause of failure of initial SEAE in our hospital. Abnormal renal function was observed in 5 patients, and they recovered to preoperative or normal level within 3 weeks. CONCLUSIONS: The posterior artery segment of the kidney is the most common bleeding site due to the choice of puncture site. Delayed bleeding (>24 h) was the most common type of bleeding. SRAE is an effective and safe method to treat the severe bleeding after PCNL.

Overexpression of COPS3 promotes clear cell renal cell carcinoma progression via regulation of Phospho-AKT(Thr308), Cyclin D1 and Caspase-3.

The third subunit of the COP9 signalosome (COPS3) is associated with cell proliferation and tumorigenesis process in cancer. The present study showed that the expression level of COPS3 was upregulated in malignant cell lines and COPS3 overexpression was related with clinical stage, T stage, historical grade. Kaplan-Meier survival curves showed that COPS3 may function as a prognostic factor for overall survival. CCK-8 and colony formation assays revealed that knockdown of COPS3 in ACHN and 786-O significantly impacted proliferation in vitro. In addition, flow cytometry showed that inhibition of COPS3 induced G0/G1 arrest and promoted apoptosis. COPS3 may promote kidney cancer progression by altering Phospho-AKT(Thr308), Cyclin D1 and Caspase-3 expression. Collectively, Our findings suggest that COPS3 may be a new potential target of ccRCC.

Evaluation of retinal vasculature before and after treatment of children with obstructive sleep apnea-hypopnea syndrome by optical coherence tomography angiography.

PURPOSE: To evaluate the effect of adenoidectomy on the brains of children with obstructive sleep apnea-hypopnea syndrome (OSAS) through observation of the alteration of retinal perfusion by optical coherence tomography angiography (OCTA). METHODS: Sixty-two children with OSAS (124 eyes; 5.94 ± 1.64 years old; 53.2% boys) were enrolled in this study. Their retinal vascular network density indices, including vascular diameter (VD), vascular area density (VAD), vessel skeleton density (VSD), vessel perimeter index (VPI) on the macular superficial/deep capillary plexus (SCP/DCP), and the size of the foveal avascular zone (FAZ) were analyzed by OCTA before treatment and at 1 month after the adenoidectomy. RESULTS: After the adenoidectomy, the values of VD, VAD, VSD, and VPI in the SCP/DCP of the parafovea were significantly increased (p < 0.01). The FAZ was significantly diminished in the SCP (t = 4.50, p < 0.05) and increased in the DCP (t = - 4.43, p < 0.05). The peripapillary indices in the SCP/DCP were not significantly changed (p > 0.05). CONCLUSION: By improvement of hypoxia, the response of the parafoveal vessels was more sensitive than that of the peripapillary region in children with OSAS. Therefore, OCTA may be an ideal method to evaluate the changes of the retinal vascular system, which could be an effective parameter for the early evaluation of adenoidectomy on cases of pediatric OSAS.

[Mutation analysis of two pedigrees with suspected oculocutaneous albinism].

OBJECTIVE: To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis. METHODS: Variants were identified using next-generation sequencing(NGS) and confirmed by Sanger sequencing in 2 pedigrees with suspected OCA. The pathogenicity of the variants was analyzed according to the American College of Medical Genetics and Genomics (ACMG) standard. RESULTS: Two compound heterozygous mutations of TYR and OCA2 genes were identified respectively in 2 pedigrees with suspected OCA. The mutation of c.819+3insATATGCC in TYR and the mutation of c.1870G>C in OCA2 are first reported in this study. The pathogenicity analysis shows that two novel mutations are likely pathogenic by combination of prediction of SIFT, Polyphen-2 and Human Splicing Finder. CONCLUSION: The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations in the TYR and OCA2 gene may be responsible for clinical manifestations of 2 pedigrees with suspected OCA.

Correction to: Electroretinogram evaluation for the treatment of proliferative diabetic retinopathy by short-pulse pattern scanning laser panretinal photocoagulation.

The published online version contains incorrect data in Table 2 caption. Argon should not be mentioned in the caption as this is not used in this paper.

Electroretinogram evaluation for the treatment of proliferative diabetic retinopathy by short-pulse pattern scanning laser panretinal photocoagulation.

Panretinal photocoagulation (PRP) is a standard method for proliferative diabetic retinopathy (PDR) treatment. However, conventional PRP usually significantly damages the retinal structure and vision. Retinal pattern scanning laser (PASCAL) photocoagulation has emerged as a new technique with fewer complications for the treatment of retinal disorders. This study compares the therapeutic effects of short-pulse PASCAL to conventional single-spot PRP for PDR. Fifty-two PDR patients (104 eyes) were randomly assigned into a short-pulse PASCAL-PRP treatment (SP) group and a conventional PRP treatment (TP) group. The best corrected visual acuity (BCVA) and full-field flash electroretinogram (ERG) data were evaluated before and after the two treatments. The BCVA data between before and after the PRP treatments did not show any significant difference. After the PRP treatment, the b-wave amplitude (b-A) in the dark-adapted 3.0 ERG (p = 0.0005) and the amplitude in the light-adapted 3.0 flicker ERG (p = 0.009) were significantly higher in the SP group compared with that of the TP group. In addition, after the PRP treatment, the a-wave implicit time (a-T) of light-adapted 3.0 ERG prolonged significantly in the TP group compared to the SP group. Compared with the parameters before the treatments, the a-A and b-A under dark-adapted 3.0 ERG and the b-A under the light-adapted 3.0 ERG in both TP and SP groups after the treatments decreased significantly (p < 0.05). Short-pulse PASCAL-PRP significantly attenuated partial vision damage compared to conventional PRP, although it still caused limited retinal injury and mild reduction in retinal function. These findings suggest that short-pulse PASCAL-PRP is a promising technique for PDR treatment.

[Tuberculous prostatic abscess following intravesical bacillus Calmette-Guerin immunotherapy: a case report].

Intravesical bacillus Calmette-Guerin (BCG) was a common treatment for non-muscle invasive urothelial carcinoma of the bladder. The complication of prostatic abscess was rare. We reported a case of tuberculous prostatic abscess after BCG therapy. A 65-year-old man was diagnosed as bladder cancer and accepted transurethral resection of bladder tumor (TURBT) treatment. He received a 6-week induction course without any infection complication. Following the second BCG maintenance instillation, he complained of fever and dysuria. Transrectal ultrasound (TRUS) demonstrated a well-defined complex mass in the right lobe of his prostate. The diagnosis of tuberculous prostatic abscess was considered after excluding other bacterial infection. The patient was treated with an anti-tuberculous regimen of isoniazid, rifampicin, and ethambutol. The symptoms were relieved after 4 weeks of anti-tuberculous therapy. Because of the good response to the medicine, no further aspiration or drainage of prostatic abscess was carried out. The anti-tuberculous therapy had to be stopped for serious drug induced liver injury after 6 weeks of anti-tuberculous therapy. Eight weeks later of stopping anti-tuberculous therapy, the follow-up TRUS showed the disappearance of the prostatic abscess and the test of his liver function was normal. Considering the virulence of BCG is weaker than that of common tuberclebacillus, the shorter course of anti-tuberculous therapy maybe an alternative choice, and surgical drainage is not always necessary.

[Treatment of upper urinary calculi through novel modular flexible ureteroscope: a report of 36 cases].

OBJECTIVE: To evaluate the feasibility and efficacy of novel modular flexible ureteroscope in the treatment of upper urinary calculi. METHODS: From Nov. 2013 to Jul. 2014, 36 cases of upper urinary calculi were treated with holmium laser lithotripsy through novel modular flexible ureteroscope. The clinical data including the location and diameter of the calculi, time of operation, stone-free rate, complications and hospital stay after operation were analyzed retrospectively. RESULTS: The operation was performed successfully in 34 cases, the average time of operation was 108.5 min (70-145 min), the post-operation hospital stay was 2-5 d (average 2.3 d), and the stone-free rate was 83.33%. No serious complications occurred except postoperative fever in 2 cases and haemorrhage in 1 case. CONCLUSION: The novel modular flexible ureteroscope is a safe and effective medical instrumentation for treatment of upper urinary calculi.

[Percutaneous renal puncture guide by a novel real-time needle-tracking ultrasound system for percutaneous nephrolithotomy: analysis of 16 cases].

OBJECTIVE: To evaluate the feasibility and efficacy of percutaneous renal puncture in percutaneous nephrolithotomy guided by novel needle-tracking ultrasound system. METHODS: From may to october 2013, 16 cases of percutaneous nephrolithotomy were performed under the guidance of ultrasound system. The clinical data including the time of completing percutaneous renal puncture, the color of urine sucked out from the kidney calices, and the complications were analyzed retrospectively. RESULTS: Of the 16 patients, 18 percutaneous renal access were established guided by ultrasound system. All of them were successtul for the first time, and the average time of completing percutaneous renal punctures was (26.90 ± 11.37) s (15 to 54 s). After the operation, the hemoglobin decreased by (9.56 ± 5.27)%(1.41% to 24.06%), and no complications occurred except for postoperative fever in 2 case. CONCLUSION: The novel ultrasound system is a safe and effective technique that can reduce the technical difficulty of percutaneous renal puncture in percutaneous nephrolithotomy.

[Balloon dilation by B ultrasound monitoring for treatment of urethral stricture: 5 case reports].

Urethral stricture is a common urologic disease and there are many therapeutic methods for it. Here we investigated the application of balloon dilation under B-mold ultrasound monitoring in the treatment of urethral stricture. Five male patients suffering from urethral stricture were treated with balloon dilation under B-mold ultrasound monitoring.Their urination was assessed after operation. All the patients underwent the operation successfully, without serious complications. The urinary catheter was removed 3-4 weeks after operation. The patients were followed up for 8 to 15 months. Four patients were voiding well and one improved. Balloon dilation under B-mold ultrasound monitoring in the treatment of urethral stricture was intuitive, safe and effective.

[Comparison of efficacy between total ureterectomy and partial ureterectomy in the treatment of ureteral carcinoma].

OBJECTIVE: To compare the efficacy between total ureterectomy and partial ureterectomy in treatment of ureteral carcinoma. METHODS: The clinical data and follow-up results of 102 patients with ureteral urothelial carcinoma from August 1996 to August 2011 were analyzed retrospectively. According to surgical procedures, the patients were divided into total ureterectomy group (61 cases) and partial ureterectomy group (41 cases). The subsequent bladder cancer incidence, ureteral carcinoma recurrence rate, distant metastasis rate and survival rate were compared between two groups. The prognostic factors of ureteral carcinoma were analyzed by multivariable Cox regression. RESULTS: Nineteen patients (31.1%) suffered subsequent bladder cancer in total ureterectomy group, and 10 (24.4%) in partial ureterectomy group(χ² = 0.550, P = 0.458). Ten patients (16.4%) re-suffered contralateral ureteral carcinoma in total ureterectomy group, and 6 (14.6%) in partial ureterectomy group, 2 (4.9%) ipsilateral and 4 (9.7%) contralateral (χ² = 0.057, P = 0.811). Eight patients (13.1%) occurred distant metastasis in total ureterectomy group, and 3 (7.3%) in partial ureterectomy group (χ² = 0.360, P = 0.549). Twenty patients died of carcinoma in total ureterectomy group, and 18 in partial ureterectomy group. The median survival time was 78 months in total ureterectomy group, and 75 months in partial ureterectomy group. The 1-year, 3-year and 5-year survival rates in total ureterectomy group were 97.8%, 76.8% and 63.6%, and in partial ureterectomy group were 93.0%, 66.9% and 58.8%. The multivariable Cox regression analysis revealed that tumor stage (RR = 2.468, P = 0.009) and local lymph node status (RR = 3.081, P = 0.020) were independent prognostic factors of ureteral carcinoma. The 5-year survival rate of Ta-2 stage tumor was 73.4%, and of T3-4 stage was 42.8%. CONCLUSIONS: Tumor stage and local lymph node status are key prognostic factors of ureteral carcinoma. The efficacy between total ureterectomy and partial ureterectomy in treating early stage of low ureteral carcinoma is similar. Partial ureterectomy can be used in selective patients.

Clinical outcomes of posterior scleral reinforcement in Chinese high myopia children.

We aim to observe the posterior scleral reinforcement (PSR) clinical outcomes of children with high myopia and analyze the retinal vessel alteration before and after PSR by using angiography optical coherence tomography (angio-OCT). Fifty-six pediatric participants (112 eyes) clinically diagnosed high myopia were recruited and were treated by PSR in Shanghai Children's Hospital from June 1, 2021 to May 1, 2023. The average age ranged from 5.42 to 14.83 years (mean 8.83 years) and mean follow up duration was 8.7 months (3-24 months). The axial length (AL) was significantly shortened after PSR (p < 0.05). The spherical equivalent (SE) and the best-corrected visual acuity (BCVA) were also improved without severe rejection in the follow-up. Compared with baseline, angio-OCT parafoveal vessel indices including vascular area density (VAD) and vascular skeleton density (VSD) on the superficial capillary plexus layer (SCPL), as well as VAD and vessel perimeter index (VPI) on the deep capillary plexus layer (DCPL), were significantly increased after PSR surgery (p < 0.05). VPI on the SCPL, vascular diameter index (VDI) and VSD on the DCPL were also improved without statistical difference after PSR. The VSD on SCPL, VAD on DCPL of the right eyes and the VPI on SCPL of the left eyes were significantly increased after PSR (p < 0.05). PSR surgery can shorten the AL and can stable BCVA and SE in high myopia children. The angio-OCT parameters indicated that the retinal microcirculation supply was significantly improved after PSR.

Digital measuring the ocular morphological parameters of guinea pig eye in vivo with Python.

AIM: To quantitatively measure ocular morphological parameters of guinea pig with Python technology. METHODS: Thirty-six eyeballs of eighteen 3-week-old guinea pigs were measured with keratometer and photographed to obtain the horizontal, coronal, and sagittal planes respectively. The corresponding photo pixels-actual length ratio was acquired by a proportional scale. The edge coordinates were identified artificially by ginput function. Circle and conic curve fitting were applied to fit the contour of the eyeball in the sagittal, coronal and horizontal view. The curvature, curvature radius, eccentricity, tilt angle, corneal diameter, and binocular separation angle were calculated according to the geometric principles. Next, the eyeballs were removed, canny edge detection was applied to identify the contour of eyeball in vitro. The results were compared between in vivo and in vitro. RESULTS: Regarding the corneal curvature and curvature radius on the horizontal and sagittal planes, no significant differences were observed among results in vivo, in vitro, and the keratometer. The horizontal and vertical binocular separation angles were 130.6°±6.39° and 129.8°±9.58° respectively. For the corneal curvature radius and eccentricity in vivo, significant differences were observed between horizontal and vertical planes. CONCLUSION: The Graphical interface window of Python makes up the deficiency of edge detection, which requires too much definition in Matlab. There are significant differences between guinea pig and human beings, such as exotropic eye position, oblique oval eyeball, and obvious discrepancy of binoculus. This study helps evaluate objectively the ocular morphological parameters of small experimental animals in emmetropization research.

[Tea polyphenol protects against HK-2 cell injury induced by oxalate and calcium oxalate monohydrate crystals].

OBJECTIVE: To test whether the antioxidants tea polyphenol (TP) can provide protection against oxalate and calcium oxalate monohydrate (COM) crystals toxicity in HK-2 cells. METHODS: Four groups were chosen for the study: Negative control group, positive control group (COM+oxalate), TP group (TP+COM+oxalate), VitE group (vitamin E+COM+oxalate). HK-2 cells were exposed for 4, 8, 12 and 24 h. The viability of the cells was assessed by MTT. The cellular injury was assessed by the concentration of lactate dehydrogenase (LDH), hydrogen peroxide and viability of Na+/K+ ATP enzyme. The peroxidation level was assessed by malondialdehyde (MDA) content and viability of superoxide dismutase (SOD). The morphological changes of HK-2 cells after being exposed for 4 and 12 h in each group were observed by transmission electron microscope (TEM). RESULTS: The effects of TP and vitamin E on oxalate and COM exposed cells were tested. The HK-2 cells exposed to oxalate and COM showed a significant reduction in viability of cells, Na+/K+ ATPase and SOD. LDH release, MDA content and concentration of H2O2 were significantly increased. In TP group, the addition of TP significantly increased viability of cells, activity of Na+/K+ ATPase and SOD while LDH release, MDA content and concentration of H2O2 were significant decreased compared with the positive control group. In the Vitamn E group, compared with the positive control group, viability of cells, and activity of Na+/K+ ATPase were not significantly changed and after addition of vitamin E, SOD activity was restored, LDH release, MDA content and concentration of H2O2 were significant decreased compared with the positive control group. The morphological changes of HK-2 cells were observed by TEM in the positive control group, TP group and VitE group. In the VitE and TP groups, the amount of the cells with vacuoles formed in kytoplasms, mitochondria swelling, karyotheca dissolved and nucleolus disappearing were less than in the positive group. The morphological changes in the TP group were less than in the VitE group. CONCLUSION: TP and vitamin E administration may prevent oxalate and COM mediated peroxidative injury and restore intracellular antioxidant enzyme activity. The protection rendered by TP was greater than that of vitamin E.

Microvasculature evaluation of anisometropic amblyopia children by Angio-OCT.

To compare and assess the choroidal and retinal microstructural vascularity in amblyopic eyes with the fellow eyes in anisometropic amblyopic children using angiography optical coherence tomography (Angio-OCT). Twenty-seven children (54 eyes; 5.59 ± 1.08 years old; 59.3% girls) were enrolled in this study. Choroidal thickness (CT) was measured with the use of the enhanced depth imaging mode in Angio-OCT. Parafoveal/peripapillary vascular density indices and the foveal avascular zone (FAZ) size were analyzed by MATLAB code programming on Angio-OCT images. The mean FAZ size of the amblyopic eyes were larger both in superficial and deep capillary plexus layer (SCPL/DCPL). Compared with the contralateral eyes (BCVA were normal), all the vascular density indices of SCPL and DCPL in the parafoveal and peripapillary zones were lower in the amblyopic eyes, however, the difference was insignificant (p > 0.05). No significant decrease was observed in four quadrants analyses of the amblyopic eyes (p > 0.05). Except for the measurement at 2000 µm and 1500 µm from the fovea in temple, CT in amblyopic eyes were significantly thicken than the fellow eyes (p < 0.05). Compared with the fellow eyes, the CT of certain areas were thicker in the amblyopic eyes. Though the FAZ size of the amblyopic eyes was larger in SCPL/DCPL layers, the retinal vascular density indices in SCPL/DCPL were lower in amblyopia eyes without statistical difference. Angio-OCT may be an effective way to evaluate the status of the choroidal and retinal vascular system in amblyopic children.

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.

BACKGROUND: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardiomyopathy and myopathy. OBJECTIVE: To identify genetic cause in a patient with early onset autosomal recessive MCID. METHODS: Trio whole-exome sequencing was performed and phenotype-related data analyses were conducted. All candidate mutations were confirmed by Sanger sequencing. RESULTS: Here we report a child of Leigh syndrome presented with global developmental delay, progressive muscular hypotonia and myocardial damage. A missense mutation c.118C > T (p.Arg40Trp) and a previously reported mutation c.1157G > A (p.Arg386His) in NDUFV1 have been identified as compound heterozygous in the patient. The mutation p.Arg386His is closely associated with the impairment of 4Fe-4S domain and this mutation has been reported pathogenic. The c.118C > T mutation has not been reported in ClinVar and HGMD database. In silico protein analyses showed that p.Arg40 is highly conserved in a wide range of species, and the amino acid substitution p.Trp40 largely decreases the stability of NDUFV1. In addition, the mutation has not been detected in the Asian populations and it was predicted to be deleterious by numerous prediction tools. CONCLUSION: This research expands the mutation spectrum of NDUFV1 and substantially provides an early and accurate diagnosis basis of MCID, which would benefit subsequently effective genetic counseling and prenatal diagnosis for future reproduction of the family.

[Clinical efficacy and safety of percutaneous nephrolithotomy for upper urinary tract calculi patients with metabolic syndrome].

OBJECTIVE: To investigate the efficacy and safety of percutaneous nephrolithotomy (PCNL) for upper urinary tract calculi patients complicated with metabolic syndrome (MS). METHODS: The clinical data of 66 PCNL cases with upper urinary tract calculi from March 2010 to February 2011 were retrospectively reviewed. Patients were divided into two groups according to 2004 Diagnostic Criteria of Metabolic Syndrome by the Chinese Diabetes Society (CDS). Twenty six upper urinary tract calculi patients complicated with metabolic syndrome were defined as case group (average aged 52.4 years, 16 males and 10 females). The other 40 cases without MS served as control group (average aged 45.9 years, 21 males and 19 females). The stone burden was (7.2 ± 1.8) cm(3) in case group and (6.4 ± 1.3) cm(3) in control group (P=0.712). The stone free rate, operative time, drop in hemoglobin level and fever were compared between the two groups. RESULTS: The operation time was (87.1 ± 9.0) min in case group and (87.6 ± 6.0) min in control group (P=0.963). The stone free rate was 76.9% (20/26) vs. 75.0% (30/40), P=0.859. The drop in hemoglobin level was (8.4 ± 1.6) g/L vs. (9.1 ± 1.4) g/L, P=0.739. The incidence of post-operative fever was 38.5% (10/26) vs. 45.0% (18/40), P=0.599. CONCLUSION: MS will neither increase the difficulty of surgery, nor reduce the stone free rate of PCNL for upper urinary tract calculi. And it will not raise the incidence of postoperative complications.