Diagnosis and treatment of gallbladder perforation

AIM： To present our clinical experience with gallbladder perforation cases.METHODS： Records of 332 patients who received medical and/or surgical treatment with the diagnosis of acute cholecystitis in our clinic between 1997 and 2006 were reviewed retrospectively. Sixteen （4.8%） of those patients had gallbladder perforation. The parameters including age, gender, time from the onset of symptoms to the time of surgery, diagnostic procedures, surgical treatment, morbidity, and mortality were evaluated.RESULTS： Seven patients had type I gallbladder perforation, 7 type I gallbladder perforation, and 2 type m gallbladder perforation according to Niemeier＇ s classification. The patients underwent surgery after administration of intravenous electrolyte solutions, and were treated with analgesics and antibiotics within the first 36 h （mean 9 h） after admission. Two patients died of sepsis and multiple organ failure in the early postoperative period. Subhepatic abscess, pelvic abscess, pneumonia, pancreatitis, and acute renal failure were found in 6 patients.CONCLUSION： Early diagnosis and emergency surgical treatment of gallbladder perforation are of crucial importance. Upper abdominal computerized tomography for acute cholecystitis patients may contribute to the preoperative diagnosis of gallbladder perforation.

Pathogenesis, prevention, diagnosis and management of retinal vein occlusion

Retinal vein occlusion(RVO) is the second vascular retinal cause of visual loss and defined by the occlusion of a retinal vein. It is divided into branch retinal vein occlusion or central retinal vein occlusion, depending on the location of occlusion. RVO has severe medical, financial and social implications on the patients. The diagnosis of the disease is easier nowadays with the use of spectral domain optical coherence tomography and fluorescein angiography. The treatment options for RVO have changed dramatically over the past few years with the introduction of the intravitreal injections of dexamethasone(Ozurdex), bevacizumab(Avastin), ranibizumab(Lucentis) and aflibercept(EYLEA), along with the panretinal laser photocoagulation, abandoning former treatment modalities and surgical solution. This manuscript is a review of current literature about RVO with emphasize on the pathophysiology, risk factors and prevention, diagnosis and sub-group categorization and treatments including medical and surgical. Since no official guidelines are available for the treatment of RVO patients, and considering the latest developments in the treatment options, and the variety of follow-up and treatment modalities, this manuscript aims to provide tools and knowledge to guide the physician in treating RVO patients, based on the latest publications from the literature and on several of the patients characteristics.

Diagnosis of upper gastrointestinal perforation complicated with fistula formation and subphrenic abscess by contrast-enhanced ultrasound:A case report

BACKGROUND Gastrointestinal perforation complicated by subphrenic abscess is a surgical emergency.Its diagnosis relies mainly on X-ray or computed tomography(CT),while the value of ultrasound,especially contrast-enhanced ultrasound(CEUS),has been underestimated.CASE SUMMARY A 37-year-old man presented with fever and edema of the lower extremities for 10 d.He had a history of laparoscopic repair of gastroduodenal perforation 6 mo prior.His first-time intravenous CEUS indicated a diagnosis of subphrenic abscess.He received antibiotic therapy and ultrasound-guided percutaneous drainage of the abscess.However,second-time intravenous CEUS revealed an unsatisfactory therapeutic effect.Intracavitary CEUS was proposed,and this examination detected communication between the abscess and the stomach.Upper gastrointestinal perforation complicated by fistula formation and subphrenic abscess was diagnosed with the help of CEUS.Abdominal CT and esophagogastroduodenoscopy confirmed the diagnosis.The patient recovered after the perforation was repaired by surgery.CONCLUSION Intravenous and intracavitary CEUS provides helpful information for the diagnosis of upper gastrointestinal perforation complicated by fistula formation and subphrenic abscess.

Esophagectomy for a traumatic esophageal perforation with delayed diagnosis

Esophageal perforations are rare,and traumatic perforations are even more infrequent.Due to the rarity of this condition and its nonspecific presentation,the diagnosis and treatment of this type of perforation are delayed in more than 50% of patients,which leads to a high mortality rate.An 18-year-old male patient was brought to the emergency room with a penetrating neck injury,caused by a gunshot wound.He was taken to the operating room and underwent surgical exploration of the neck and a chest tube was inserted to treat the hemo-and pneumothorax.During the procedure,a 2 cm lesion was detected in the esophagus,and the patient underwent a primary repair.A contrast leakage into his right hemithorax was noticed on the 4th postoperative day;he was submitted to new surgery,and a subtotal esophagectomy and jejunostomy were performed.He was discharged from the hospital in good condition 20 d after the last procedure.The discussion around this topic focuses on the importance of the timing of diagnosis and the subsequent treatment.In early diagnosed patients,more conservative therapeutics should be performed,such as primary repair,while in those with delayed diagnosis,the patient should be submitted to more aggressive and def initive treatment.

Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions

The advent of next generation sequencing(NGS) tech-niques has greatly simplified the molecular diagnosis and gene identification in very rare and highly heterogeneous Mendelian disorders. Over the last two years, these approaches, especially whole exome sequencing(WES), alone or combined with homozygosity mapping and linkage analysis, have proved to be successful in the identification of more than 25 new causative retinal dystrophy genes. NGS-approaches have also identified a wealth of new mutations in previously reported genes and have provided more comprehensive information concerning the landscape of genotype-phenotype correlations and the genetic complexity/diversity of human control populations. Although whole genome sequencing is far more informative than WES, the functional meaning of the genetic variants identified by the latter can be more easily interpreted, and final diagnosis of inherited retinal dystrophies is extremely successful, reaching 80%, particularly for recessive cases. Even considering the present limitations of WES, the reductions in costs and time, the continual technical improvements, the implementation of refined bioinformatic tools and the unbiased comprehensive genetic information it provides, make WES a very promising diagnostic tool for routine clinical and genetic diagnosis in the future.

Usher syndrome:Genetic diagnosis and current therapeutic approaches

Usher Syndrome(USH)is the most common deaf-blind syndrome,affecting approximately 1 in 6000 people in the deaf population.This genetic condition is characterized by a combination of hearing loss(HL),retinitis pigmentosa,and,in some cases,vestibular areflexia.Among the subtypes of USH,USH type 1 is considered the most severe form,presenting profound bilateral congenital deafness,vestibular areflexia,and early onset RP.USH type 2 is the most common form,exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high frequencies.Conversely,type 3 is the rarest,initially manifesting mild symptoms during childhood that become more prominent in the first decades of life.The dual impact of USH on both visual and auditory senses significantly impairs patients'quality of life,restricting their daily activities and interactions with society.To date,9 genes have been confirmed so far for USH:MYO7A,USH1C,CDH23,PCDH15,USH1G,USH2A,ADGRV1,WHRN and CLRN1.These genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina,leading to functional loss.Although non-genetic methods can assist in patient triage and disease extension evaluation,genetic and molecular tests play a pivotal role in providing genetic counseling,enabling appropriate gene therapy,and facilitating timely cochlear implantation(CI).The CRISPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating USH.Regarding drug therapy,PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in USH.Simultaneously,CI has proven to be critical in the restoration of hearing.This review aims to summarize the genetic and molecular diagnosis of USH and highlight the importance of early diagnosis in Cuzzuol BR et al.Diagnosis and current treatments of USH WJO https://www.wjgnet.com 2 January 19,2024 Volume 11 Issue 1 guiding appropriate treatment strategies and improving patient prognosis.

Transfer Learning-based Computer-aided Diagnosis System for Predicting Grades of Diabetic Retinopathy

Diabetic retinopathy(DR)diagnosis through digital fundus images requires clinical experts to recognize the presence and importance of many intricate features.This task is very difficult for ophthalmologists and timeconsuming.Therefore,many computer-aided diagnosis(CAD)systems were developed to automate this screening process ofDR.In this paper,aCAD-DR system is proposed based on preprocessing and a pre-train transfer learningbased convolutional neural network(PCNN)to recognize the five stages of DR through retinal fundus images.To develop this CAD-DR system,a preprocessing step is performed in a perceptual-oriented color space to enhance the DR-related lesions and then a standard pre-train PCNN model is improved to get high classification results.The architecture of the PCNN model is based on three main phases.Firstly,the training process of the proposed PCNN is accomplished by using the expected gradient length(EGL)to decrease the image labeling efforts during the training of the CNN model.Secondly,themost informative patches and images were automatically selected using a few pieces of training labeled samples.Thirdly,the PCNN method generated useful masks for prognostication and identified regions of interest.Fourthly,the DR-related lesions involved in the classification task such as micro-aneurysms,hemorrhages,and exudates were detected and then used for recognition of DR.The PCNN model is pre-trained using a high-end graphical processor unit(GPU)on the publicly available Kaggle benchmark.The obtained results demonstrate that the CAD-DR system outperforms compared to other state-of-the-art in terms of sensitivity(SE),specificity(SP),and accuracy(ACC).On the test set of 30,000 images,the CAD-DR system achieved an average SE of 93.20%,SP of 96.10%,and ACC of 98%.This result indicates that the proposed CAD-DR system is appropriate for the screening of the severity-level of DR.

Deep-learning classifier with ultrawide-field fundus ophthalmoscopy for detecting branch retinal vein occlusion

AIM: To investigate and compare the efficacy of two machine-learning technologies with deep-learning(DL) and support vector machine(SVM) for the detection of branch retinal vein occlusion(BRVO) using ultrawide-field fundus images. METHODS: This study included 237 images from 236 patients with BRVO with a mean±standard deviation of age 66.3±10.6 y and 229 images from 176 non-BRVO healthy subjects with a mean age of 64.9±9.4 y. Training was conducted using a deep convolutional neural network using ultrawide-field fundus images to construct the DL model. The sensitivity, specificity, positive predictive value(PPV), negative predictive value(NPV) and area under the curve(AUC) were calculated to compare the diagnostic abilities of the DL and SVM models. RESULTS: For the DL model, the sensitivity, specificity, PPV, NPV and AUC for diagnosing BRVO was 94.0%(95%CI: 93.8%-98.8%), 97.0%(95%CI: 89.7%-96.4%), 96.5%(95%CI: 94.3%-98.7%), 93.2%(95%CI: 90.5%-96.0%) and 0.976(95%CI: 0.960-0.993), respectively. In contrast, for the SVM model, these values were 80.5%(95%CI: 77.8%-87.9%), 84.3%(95%CI: 75.8%-86.1%), 83.5%(95%CI: 78.4%-88.6%), 75.2%(95%CI: 72.1%-78.3%) and 0.857(95%CI: 0.811-0.903), respectively. The DL model outperformed the SVM model in all the aforementioned parameters(P<0.001). CONCLUSION: These results indicate that the combination of the DL model and ultrawide-field fundus ophthalmoscopy may distinguish between healthy and BRVO eyes with a high level of accuracy. The proposed combination may be used for automatically diagnosing BRVO in patients residing in remote areas lacking access to an ophthalmic medical center.

Immediate detection of endoscopic retrograde cholangiopancreatographyrelated periampullary perforation: Fluoroscopy or endoscopy?

AIM: To investigate the causes and intraoperative detection of endoscopic retrograde cholangiopancreatography (ERCP)-related perforations to support immediate or early diagnosis.

Uterine Perforation after Pose of IUD, the Place of Abdomen Radiography without Preparation

Uterine perforation is a serious complication after insertion of an intrauterine device (IUD). We report the case of a 34-year-old woman receiving in consultation for abdominal pain. In the interrogation there was a notion of IUD insertion for about a week. The gynecological examination did not find the thread of IUD and the ultrasound performed did not visualize an IUD. Radiography of the abdomen without preparation highlighted a compatible intrapelvic foreign thing like an IUD. The diagnosis of pelvic inflammatory disease by uterine perforation by an IUD was thus retained. We suggest in case of suspicion of uterine radio paque IUD perforation achieving radiography when the abdominal pelvic ultrasound is normal.

INTRINSIC OPTICAL SIGNAL IMAGING OF RETINAL ACTIVITY IN FROG EYE

Using a near-infrared(NIR)light flood-illumination imager equipped with a high-speed(120 Hz)CCD camera,we demonstrated optical imaging of stimulus-evoked retinal activity in isolated,but intact,frog eye.Both fast and slow transient intrinsic optical signals(IOSs)were observed.Fast optical response occurred immediately after the stimulus onset,could reach peak magnitude within 100 ms,and correlated tightly with ON and OFF edges of the visible light stimulus;while slow optical response lasted a relatively long time(many seconds).High-resolution images revealed both positive(increasing)and negative(decreasing)IOSs,and dynamic optical change at individual CCD pixels could often exceed 10%of the background light intensity.Our experiment on isolated eye suggests that further development of fast,high(sub-cellular)resolution fundus imager will allow robust detection of fast IOSs in vivo,and thus allow noninvasive,three-dimensional evaluation of retinal neural function.

Detection and Grading of Diabetic Retinopathy in Retinal Images Using Deep Intelligent Systems: A Comprehensive Review

Diabetic Retinopathy(DR)is an eye disease that mainly affects people with diabetes.People affected by DR start losing their vision from an early stage even though the symptoms are identified only at the later stage.Once the vision is lost,it cannot be regained but can be prevented from causing any further damage.Early diagnosis of DR is required for preventing vision loss,for which a trained ophthalmologist is required.The clinical practice is time-consuming and is not much successful in identifying DR at early stages.Hence,Computer-Aided Diagnosis(CAD)system is a suitable alternative for screening and grading of DR for a larger population.This paper addresses the different stages in CAD system and the challenges in identifying and grading of DR by analyzing various recently evolved techniques.The performance metrics used to evaluate the Computer-Aided Diagnosis system for clinical practice is also discussed.

Convolutional Neural Network-Based Classificationof Multiple Retinal Diseases Using Fundus Images

Use of deep learning algorithms for the investigation and analysis of medical images has emerged as a powerful technique.The increase in retinal dis-eases is alarming as it may lead to permanent blindness if left untreated.Automa-tion of the diagnosis process of retinal diseases not only assists ophthalmologists in correct decision-making but saves time also.Several researchers have worked on automated retinal disease classification but restricted either to hand-crafted fea-ture selection or binary classification.This paper presents a deep learning-based approach for the automated classification of multiple retinal diseases using fundus images.For this research,the data has been collected and combined from three distinct sources.The images are preprocessed for enhancing the details.Six layers of the convolutional neural network(CNN)are used for the automated feature extraction and classification of 20 retinal diseases.It is observed that the results are reliant on the number of classes.For binary classification(healthy vs.unhealthy),up to 100%accuracy has been achieved.When 16 classes are used(treating stages of a disease as a single class),93.3%accuracy,92%sensitivity and 93%specificity have been obtained respectively.For 20 classes(treating stages of the disease as separate classes),the accuracy,sensitivity and specificity have dropped to 92.4%,92%and 92%respectively.

Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene

AIMTo make comprehensive molecular diagnosis for retinitis pigmentosa (RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.

Dawn of ocular gene therapy:implications for molecular diagnosis in retinal disease

Personalized medicine aims to utilize genomic information about patients to tailor treatment. Gene replacement therapy for ra- re genetic disorders is perhaps the most extreme form of personalized medicine, in that the patients＇ genome wholly determines their treatment regimen. Gene therapy for retinal disorders is poised to become a clinical reality. The eye is an optimal site for gene therapy due to the relative ease of precise vector delivery, immune system isolation, and availability for monitoring of any potential damage or side effects. Due to these advantages, clinical trials for gene therapy of retinal diseases are currently underway. A necessary precursor to such gene therapies is accurate molecular diagnosis of the mutation（s） underlying disease. In this review, we discuss the application of Next Generation Sequencing （NGS） to obtain such a diagnosis and identify disease causing genes, using retinal disorders as a case study. After reviewing ocular gene therapy, we discuss the application of NGS to the identification of novel Mendelian disease genes. We then compare current, array based mutation detection methods against next NGS-based methods in three retinal diseases： Leber＇s Congenital Amaurosis, Retinitis Pigmentosa, and Stargardt＇s disease. We conclude that next-generation sequencing based diagnosis offers several advantages over array based methods, including a higher rate of successful diagnosis and the ability to more deeply and efficiently assay a broad spectrum of mutations. However, the relative difficulty of interpreting sequence results and the development of standardized, reliable bioinforrnatic tools remain outstanding concerns. In this review, recent advances NGS based molecular diagnoses are discussed, as well as their implications for the development of personalized medicine.

2019年《EURETINA视网膜静脉阻塞诊疗指南》解读

视网膜静脉阻塞(retinal vein occlusion,RVO)是继糖尿病视网膜病变后常见的眼底血管性疾病。2011年发表的《视网膜静脉阻塞管理专家共识》对RVO的诊疗进行了全面的阐述。2019年8月,欧洲视网膜专家协会(European Society of Retina Specialists,EURETINA)则在2011年专家共识基础上更新了RVO诊疗指南,总结了大型临床试验结果,采纳更强证据等级的数据资料对RVO的诊疗进行了规范。2019年指南形式上采用了"基本原理-证据-推荐"的结构,对RVO进行全面总结。本文对该指南内容进行解读。

Recurrent small intestinal perforation from gastric mucosal heterotopia:A case report

BACKGROUND Gastric mucosal heterotopia(GMH)is a rare,typically asymptomatic condition characterized by ectopic gastric mucosa in tissues outside the stomach.However,it can lead to severe complications,including small intestinal perforation.This case report highlights the unique clinical presentation of GMH-induced recurrent small intestinal perforations,which has been rarely documented.These findings emphasize the importance of considering GMH in patients with unexplained recurrent gastrointestinal perforations.CASE SUMMARY A 13-year-old female presented with acute abdominal pain.Her medical history included four prior surgeries for small intestinal perforations.Enhanced compu-ted tomography revealed localized bowel thickening and perforation,prompting emergency surgery.A 20 cm segment of the ileum was resected and anastomosed.Pathological analysis confirmed extensive GMH with ulceration and perforation,identifying GMH as the cause of the recurrent perforations.Postoperatively,the patient recovered well with no recurrence by the 10-month follow-up.CONCLUSION GMH should be considered in cases of recurrent unexplained intestinal perfor-ations.©The Author(s)2024.Published by Baishideng Publishing Group Inc.All rights reserved.

进展期年龄相关性黄斑变性成像模式及应用专家共识(2024)

进展期年龄相关性黄斑变性(AMD)病理改变以外层视网膜萎缩和变薄,视网膜色素上皮变性、增生或萎缩以及黄斑新生血管为主,包括地图样萎缩和湿性AMD,严重危害患者视力。目前,检测、量化和监测进展期AMD的眼底成像模式主要包括彩色眼底照相、眼底自发荧光、眼底近红外反射、眼底光学相干断层扫描成像、荧光素眼底血管造影和吲哚菁绿血管造影等。近年来发展的眼底成像模式包括眼底光学相干断层扫描血管成像、炫彩眼底成像、广角照相成像和多光谱成像等,也广泛应用于进展期AMD的成像检查。这些进展期AMD成像模式的最优化选择对于检测、量化和监测进展期AMD至关重要,并可能会影响相关临床诊疗的时效和成本。目前,进展期AMD成像面临的主要挑战是成像方案的选择和图像分析算法技术的研究。然而,国内外在检测、量化和监测进展期AMD的传统及当代先进的成像模式方面尚未达成共识。因此,本共识专家组就进展期AMD的各种成像模式进行了系统性讨论,在大量临床病例进行大样本分析的基础上,评估了各种成像模式的优缺点,并对每种成像模式在进展期AMD未来研究中的作用进行了系统总结。本共识专家组针对进展期AMD诊断和监测的不同阶段,结合经济效益成本分析,提出了各种适用技术的选择方法建议。

急性视网膜坏死综合征的早期诊断及治疗进展

急性视网膜坏死综合征(acute retinal necrosis syndrome,ARNS)是一种主要由疱疹病毒感染引起的以重度全葡萄膜炎、视网膜坏死灶、视网膜动脉为主的视网膜血管炎、玻璃体炎、脉络膜炎和后期视网膜裂孔及脱离为主要临床表现的一组眼病综合征。现阶段ARNS的误诊率仍然较高,早期临床表现缺乏特异性,导致ARNS患者治疗棘手,致盲率高。ARNS一经确诊,应立即行足量的抗病毒药物联合糖皮质激素对症治疗,预防性行视网膜激光光凝术,必要时行玻璃体切割术,尽可能留住患者生活视力。本文结合相关文献,对ARNS的早期诊断及相关治疗进展进行综述。

SD-OCT在真假视乳头水肿鉴别诊断中的应用

视乳头水肿是由于颅内压升高导致视盘神经纤维轴浆流障碍,视盘水肿、抬高,并向前隆起。假性视乳头水肿多为视盘形态异常,如视盘玻璃疣、视盘倾斜等,眼底照相可见视盘边界模糊。临床上难以鉴别视乳头水肿和假性视乳头水肿,谱域光学相干断层扫描(SD-OCT)提供了一种无创、易获取、高分辨率的成像技术,通过测量视盘周围神经纤维层厚度、视盘体积和总视网膜厚度等定量指标或观察视盘周围形状和移位、视网膜皱褶等定性指标,可提高诊断准确性。本文主要讨论SD-OCT在鉴别视乳头水肿和假性视乳头水肿中的应用价值。