Endoscopic visualization of annular pancreas after duodenoduodenostomy.
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ABSTRACT:
SUBMITTER: Peterson DM
PROVIDER: S-EPMC6945228 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome. CASE PRESENTATION:Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II. CONCLUSIONS:A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation.
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Project description:Pancreatic diseases, which include diabetes, pancreatitis, and pancreatic cancer, are often difficult to detect and/or stage, contributing to a reduced quality of life and lifespan for patients. Thus, there is need for a technology that can visualize tissue changes in the pancreas, improve understanding of disease progression, and facilitate earlier detection in the human population. Because of low spatial resolution, current clinical magnetic resonance imaging (MRI) at low field strength has yet to fully visualize the exocrine, endocrine, vascular, and stromal components of the pancreas. We used high field strength magnetic resonance microscopy (?MRI) to image mouse pancreas ex vivo without contrast agents at high spatial resolution. We analyzed the resulting high-resolution images using volume rendering to resolve components in the pancreas, including acini, islets, blood vessels, and extracellular matrix. Locations and dimensions of pancreatic components as seen in three-dimensional ?MRI were compared with histological images, and good correspondence was found. Future longitudinal studies could expand on the use of in vivo ?MRI in mouse models of pancreatic diseases. Capturing three-dimensional structural changes through ?MRI could help to identify early cellular and tissue changes associated with pancreatic disease, serving as a mode of improved detection in the clinic for endocrine and exocrine pathologies.
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Project description:Pancreas divisum (PD) is the most common developmental anatomic variant of pancreatic duct. Endoscopic ultrasound (EUS) is often performed to evaluate idiopathic pancreatitis and has been shown to have high accuracy in diagnosis of PD. The different techniques to identify PD by linear EUS have been described differently by different authors. If EUS is done with a proper technique it can be a valuable tool in the diagnosis of PD. The anatomical and technical background of different signs has not been described so far. This article summarizes the different techniques of imaging of pancreatic duct in a suspected case of PD and gives a technical explanation of various signs. The common signs seen during evaluation of pancreatic duct in PD are stack sign of linear EUS, crossed duct sign on linear EUS, the dominant duct and ventral dorsal duct (VD) transition. Few other signs are described which include duct above duct, short ventral duct /absent ventral duct, separate opening of ducts with no communication, separate opening of ducts with filamentous communication, stacking of duct of Santorini and indirect signs like santorinecele. The principles of the sign have been explained on an anatomical basis and the techniques and the principles described in the review will be helpful in technical evaluation of PD during EUS.
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Project description:PurposeDeeply embedded corneal foreign bodies and intrastromal foreign body removal can often be a challenge. The aim of this report was to describe the utility of endoscopy in visualization and removal of an embedded corneal bee stinger.MethodsA 44-year-old male patient developed toxic keratopathy after injury from a bee stinger. On examination, the bee stinger was noted to be deeply embedded in the corneal stroma. A superficial keratectomy was initially attempted; however, the stinger was noted to be intrastromal and protruding into the anterior chamber and could not be removed. An Endoscopy-assisted visualization was used to remove the stinger.ResultsThe bee stinger was successfully removed and the patient's vision improved to 20/100 from an initial CFCF (counting fingers close to face) at time of presentation. At the end of 3 months follow-up, there was residual corneal edema along with cataractous changes in the lens as a sequelae of the initial bee sting injury. The patient subsequently underwent an endothelial keratoplasty along with phacoemulsification with intraocular lens implantation and the final BCVA improved to 20/40.ConclusionEndoscopyassisted visualisation of anterior chamber and angle structures can be valuable in removal of retained and deeply embedded corneal or intracameral foreign bodies.
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Project description:The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth. However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study retrospectively analyzed the next-generation sequencing (NGS) data of individuals from January 2016 to June 2020 for 17q12 duplication. To identify the function of the key gene of HNF1B in the 17q12 duplication region, human HNF1B mRNA was microinjected into LiPan zebrafish transgenic embryos. A total of 19 cases of 17q12 duplication were confirmed. AP was diagnosed during exploratory laparotomy in four patients (21.1%). The other common features of 17q12 duplication included intellectual disability (50%), gross motor delay (50%), and seizures/epilepsy (31.58%). The ratio of the abnormal pancreas in zebrafish was significantly higher in the HNF1B overexpression models. In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome. Furthermore, our zebrafish studies verified the role of the HNF1B gene in pancreatic development.
| S-EPMC8138176 | biostudies-literature
Project description:Background/aimsThis study aimed to evaluate the characteristics of endoscopic retrograde cholangiopancreatography (ERCP) or endoscopic ultrasonography (EUS)-related adverse events (AEs) that eventually lead to medical disputes or claims on medical professional liability.MethodsMedical disputes for ERCP/EUS-related AEs filed in the Korea Medical Dispute Mediation and Arbitration Agency between April 2012 and August 2020 were evaluated using corresponding medical records. AEs were categorized into three sections: procedure-related, sedation-related, and safety-related AEs.ResultsAmong a total of 34 cases, procedure-related AEs were 26 (76.5%; 12 duodenal perforations, 7 post-ERCP pancreatitis, 5 bleedings, 2 perforations combined with post-ERCP pancreatitis); sedation-related AEs were 5 (14.7%; 4 cardiac arrests, 1 desaturation), and safety-related AEs were 5 (8.8%; 1 follow-up loss for stent removal, 1 asphyxia, 1 fall). Regarding clinical outcomes, 20 (58.8%) were fatal and eventually succumbed to AEs. For the types of medical institutions, 21 cases (61.8%) occurred at tertiary or academic hospitals, and 13 (38.2%) occurred at community hospitals.ConclusionThe ERCP/EUS-related AEs filed in Korea Medical Dispute Mediation and Arbitration Agency showed distinct features: duodenal perforation was the most frequent AE, and clinical outcomes were fatal, resulting in at least more than permanent physical impairment.
| S-EPMC10393579 | biostudies-literature
Project description: Not available
| S-EPMC6199911 | biostudies-literature
Project description:Pancreatic secretions have an important role in the regulation of a normal nutritional state but can be altered owing to a variety of pathophysiological mechanisms in the context of exocrine pancreatic disease. The development of an endoscopic technique for collection of pancreatic fluid, termed endoscopic pancreatic function testing, has led to improved understanding of these alterations and is particularly helpful to characterize chronic pancreatitis. In addition, investigators have found endoscopically collected pancreatic fluid to be a valuable biofluid for the purposes of translational science. Techniques such as proteomic, cytokine, genetic mutation, DNA methylation, and microRNA analyses, among others, can be utilized to gain a better understanding of the molecular characteristics of chronic pancreatitis and other pancreatic diseases. Endoscopic collection of pancreatic fluid is safe and relatively straightforward, permitting opportunities for longitudinal analysis of these translational markers throughout the course of disease. This manuscript summarizes our current knowledge of pancreatic fluid, with an emphasis on proper techniques for sample collection and handling, its clinical utility, and preliminary observations in translational science.
| S-EPMC5568003 | biostudies-literature
Project description:BackgroundEndoscopic ultrasonography (EUS) is proven to be a more specific and sensitive method for detecting pancreatic lesions. However, usefulness of EUS after pancreatectomy has not been reported. This study aimed to evaluate the observational capability of EUS for the remnant pancreas (RP) after pancreatectomy.Patient and methodsThis single-center, retrospective study enrolled 395 patients who underwent pancreatectomy at Onomichi General Hospital between December 2002 and March 2016, 45 patients who underwent EUS for RP were included for analysis. We evaluated the usefulness of EUS for RP using logistic regression analysis.ResultsComplete observation of the RP was done in 42 patients (93%). In the initial surgical procedure, 21 patients underwent pancreaticoduodenectomy (PD), and 24 patients underwent distal pancreatectomy (DP). PD and DP were observed in 85% (18/21) and 100% (24/24) cases, respectively. A comparison of the detection capability of EUS and contrast-enhanced computed tomography (CT) or magnetic resonance imaging (MRI) showed that EUS was significantly superior to contrast-enhanced CT or MRI (p < 0.01). Eight of the 45 patients showed recurrence lesions in the RP. The median recurrence period was 33 months. Predictive factors for recurrence in the univariate and multivariate analyses were significantly different in space occupying lesion with EUS findings (p < 0.01) and elevated CA19-9(p < 0.01).ConclusionsEUS was able to observe the RP in almost all cases. In addition, the detection capability of EUS was significantly superior to those of CT or MRI. We recommend that all patients with RP should undergo EUS, and a longer follow-up must be performed.
| S-EPMC7815110 | biostudies-literature
Project description:PurposeTo introduce a hybrid wide-angle viewing-endoscopic vitrectomy, which we have reported, using a 3D visualization system developed recently.Subjects and methodsWe report a single center, retrospective, consecutive surgical case series of 113 eyes that underwent 25 G vitrectomy (rhegmatogenous retinal detachment or proliferative vitreoretinopathy, 49 eyes; epiretinal membrane, 18 eyes; proliferative diabetic retinopathy, 17 eyes; vitreous opacity or vitreous hemorrhage, 11 eyes; macular hole, 11 eyes; vitreomacular traction syndrome, 4 eyes; and luxation of intraocular lens, 3 eyes).ResultsThis system was successfully used to perform hybrid vitrectomy in the difficult cases, such as proliferative vitreoretinopathy and proliferative diabetic retinopathy.ConclusionHybrid wide-angle viewing-endoscopic vitrectomy using a 3D visualization system appears to be a valuable and promising method for managing various types of vitreo-retinal disease.
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