{"title":"Unraveling the Genetic Complexity: A Case Report of MYLK Gene Mutation in a Patient with SCAD","authors":"M. Abozeed","doi":"10.23880/crij-16000206","DOIUrl":"https://doi.org/10.23880/crij-16000206","url":null,"abstract":"Spontaneous Coronary Artery Dissection (SCAD) is a rare and potentially fatal disorder characterized by a tear in the wall of a coronary artery, leading to reduced blood flow to the heart. Although its exact cause remains elusive, SCAD is often associated with fibromuscular dysplasia and other connective tissue disorders. Here, we present a case of a 34-year-old African-American male with SCAD, hypertension, and obesity, whose family history included myocardial infarction, hypertension, and diabetes mellitus. Extensive imaging and cardiovascular evaluation revealed severe stenosis in the left anterior descending artery and a dissection flap in the left main coronary artery. Further genetic testing identified a variant of uncertain significance (VUS) in the MYLK gene, which has been linked to aortic dissections. While MYLK gene mutations have been reported in some SCAD and thoracic aortic aneurysm and dissection (TAAD) patients, they appear to be relatively rare. This case underscores the potential genetic basis of SCAD and highlights the importance of continued research to understand the role of MYLK gene mutations in SCAD and TAAD pathogenesis. Further investigation is warranted to determine the significance of the VUS identified in this patient","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123079383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Augmented Reality Technology Applied to Surgical Planning in Oncological Colorectal Surgery","authors":"José Fernando Trebolle","doi":"10.23880/crij-16000204","DOIUrl":"https://doi.org/10.23880/crij-16000204","url":null,"abstract":"This paper describes the application of augmented reality technology from three-dimensional colon models as a method of preoperative planning in oncological colorectal surgery. We have developed holograms of augmented reality from threedimensional anatomical models of the colon, obtained from computed tomography images (Siemens Somatom Perspective 64) with abdominal image cuts 3 mm thick. The recovery of the images was in DICOM format. The processing to achieve the threedimensional reconstruction was performed with the program OsiriX, which made a complete segmentation of the colon surface and modified the image density. 3D models were obtained of the isolated colon and in relationship with the bony structures. The smartphone Colon 3D AR application was designed (increased hyper experience- visualizer with SLAM technology) to apply augmented reality technology. An individualized hologram of augmented reality (scale 1:1) was created from each three-dimensional model. A projection with the smartphone on the patient's abdomen was made by modifying the position in the height of the reconstruction, using the pelvic bones as an anatomic reference point to calibrate the hologram's orientation. Three-dimensional reconstruction of the tumor in the preoperative plan of oncological colorectal surgery, combined with hyperreality technology, allows developing augmented reality models to improve colon anatomy knowledge and plan the surgical technique. The application is easy to use and may have advantages in preoperative colon surgery planning.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128141569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ultrasound Demonstration of Hepatic Arterial Buffer Response for Blood Flow Regulation","authors":"F. Mohammed","doi":"10.23880/crij-16000194","DOIUrl":"https://doi.org/10.23880/crij-16000194","url":null,"abstract":"This is observation analytical case control study deal with assessment of hepatic arterial buffer response for blood flow regulation using ultrasonography taking 300 subjects. 150 normal control group and 150 patients with chronic liver diseases. Several previous studies in various setting has support ultrasound scanning as non-invasive, cost effected, reliable, and accurate tool for measuring portal vein diameter and flow comparing with hepatic artery diameter for assess hepatic artery buffer response for blood flow regulation in chronic liver diseases. The Aim: Importance of the study to help in diagnosis impairment of HABR for blood flow regulation in chronic liver diseases in early stage to avoid the complication. As well as to reduce the cost and time of other examination. Method: The data was collected, analyzed by using Statistical Packaged for Social Studies (SPSS). Ultrasound examinations were performed in Tropical Diseases Teaching Hospital. Omdurman, Khartoum State during the period) from January 2021to August 2022(on 150 patients as study group (85 male and 65 female) and 150 control group with normal abdominal scan (Patient who had previous abdominal surgery was excluded). The Result: In result we found significant correlation (P=0.00) between hepatic artery diameter, liver craniocaudal length CCLcm, caudate lobe size and portal vein diameter, with direction of flow. Highly significant correlation (r=-0.222; P=0.006) was noticed between portal vein diameter and hepatic artery diameter of patient under investigation. In patient with cirrhosis found dilated portal vein associated with Hepatofugal flow away from liver combined with dilated hepatic artery to compensate the liver supply. In case of fatty liver infiltration, the portal vein decrease diameter and flow associated with increase liver size and hepatic artery diameter to supply the liver. In liver tumor HCC the portal vein decrease diameter and flow associated with increase liver size and hepatic artery diameter. In hepatitis both portal vein and hepatic artery dilated to increase supply to the liver. These were expected and goes with previous study. The study also found that there was significant correlation between Sudanese HABR and international standard. The study recommended further study to measure HABR routinely with chronic liver diseases ultrasound scan","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116619381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Utility of Peri-Operative Chest Radiographs Prior to Elective Cardiac Valve Replacement Surgery: A Retrospective Cohort Study","authors":"Matthew Van Wees","doi":"10.23880/crij-16000191","DOIUrl":"https://doi.org/10.23880/crij-16000191","url":null,"abstract":"Purpose: Peri-operative chest radiographs (POCXR) are routinely ordered prior to elective valve replacement but there is currently no data to support this practice. We postulated that surgical management was not altered due to these radiographs. Method: The medical records of patients 18 years and over admitted to our institution between 2020 and 2015 for isolated valve replacement surgery were inspected to determine if their management was changed (delayed surgery, new pathology not known etc) due to a POCXR, along with demographic data, chest radiograph findings and other imaging modality data. Results: 208 patients fit the inclusion criteria; all had POCXR. No patients had alteration to surgical timing or procedure based on the POCXR findings. We did find that 4 patients had alterations due to CT findings. 102 patients had CT and POCXR, with 88 patients having a CXR on the same day as or post CT scan. 11 patients had CT findings that warranted further investigation, which was not the case with CXR findings. 4 patients had surgical management altered due to CT scan findings. Conclusions: Our study demonstrated no utility for pre-operative CXR in elective valve replacement surgery. It is noteworthy that CT scanning did change surgical management and further altered medical management in 15 patients. This warrants further investigation.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117046277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Spontaneous Rupture of the Fornix Following an Obstructive Distal Lithiasis of the Ureterovesical Junction: A Case Report and Literature Review","authors":"Nzambimana Déogratias","doi":"10.23880/crij-16000197","DOIUrl":"https://doi.org/10.23880/crij-16000197","url":null,"abstract":"Spontaneous rupture of the fornix is a rare urological pathology. The urinary tract obstruction is the most frequent etiology. We report here a case with short review of spontaneous rupture of the fornix due to distal lithiasis of the left ureter. The patient was 26 years old, with no particular pathological medical or surgical history, admitted for sudden and intense left low back pain, suffered from the past five days and increasing in intensity with onset of fever. The patient consulted a general practitioner on local clinic where an infectious assessment was requested before the prescription of anti-inflammatory and board spectrum antibiotic to decapitate a probable urinary tract infection. The pain did not disappear under the treatment. The decision was then to refer the patient for urology specialized care. Spontaneous rupture of the fornix is rare but must always be taken into account in the differential diagnosis of pathologies occurring in a febrile patient or presenting with an acute abdomen after episodes of acute low back pain. The often non-specific clinical symptoms will regress after the rupture except in certain cases like ours. The diagnosis is guided by the interrogation, suspected on ultrasound, and confirmed by computed tomography. With a low pressure system by urinary diversion and antibiotic treatment in some cases, the result is excellent. Endoscopic drainage for a better urinary diversion contributes to a good evolution of the patients.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"229 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133640831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Rare Case of Coronary Artery Fistula on Vieussens Arterial Ring","authors":"Alberto Pacielli","doi":"10.23880/crij-16000192","DOIUrl":"https://doi.org/10.23880/crij-16000192","url":null,"abstract":"Coronary artery fistulas represent an abnormal communication between coronary circulation and heart chambers or any segment of pulmonary or systemic circulation, without an intervening capillary network. Seldom, this connection can arise on a conotruncal anastomotic variant linking the anterior descending artery and the right coronary artery or a conus artery originating from the right coronary sinus, known as Vieussens’ arterial ring. Here we discuss a case of a 73-yearold man undergoing a coronary CT angiography because of recurrent chest pain and cardiovascular risk factors; the exam showed multiple aneurismatic sacs on a Vieussens arterial ring, associated with a fistulous connection between one of the aneurysms and the main pulmonary artery, highlighted by an hyper dense jet of contrast medium within its lumen. We spotted also enlarged right and left pulmonary arteries and right ventricular dilatation, with a mild hemodynamic overload on echocardiographic evaluation. A coronary angiography confirmed the findings shown by CT scan. After a multidisciplinary discussion, the interventional cardiology team decided to close the fistulous connection. Therefore, in a subsequent procedure the malformation was treated by catheterizing the branch stemming from the anterior descending artery and placing embolization coils in the first aneurysmatic sac and in the vessel itself; the same treatment was performed on the branch originating from the right coronary sinus. Final angiographic control showed complete exclusion of the saccular aneurysms from the circulation and closure of the associated fistula. There was no peri or post-procedural complication.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134423791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Symptomatic Os Vesalianum Pedis in Young Adult: A Case Report","authors":"Zahra S M Husain","doi":"10.23880/crij-16000198","DOIUrl":"https://doi.org/10.23880/crij-16000198","url":null,"abstract":"Os vesalianum pedis is a rare accessory foot ossicle, which is located proximal to the base of the fifth metatarsal bone. This anatomic variant is usually asymptomatic and detected incidentally on routine foot radiographs. However, it can be an infrequent cause of lateral foot pain and rarely become symptomatic following traumatic injuries to the ankle or foot. To date, there are few reported cases of symptomatic os vesalianum pedis described in the literature and most of them were treated surgically. We report a case of symptomatic os vesalianum pedis in a young adult female, which was misdiagnosed initially and managed conservatively with physiotherapy. Patient’s symptoms regressed completely after a few sessions of physiotherapy and didn’t require surgical intervention. We intended to publish this case to increase the awareness of this rare entity among radiologists and clinicians.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"107 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116368144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Tuberous Sclerosis with Typical Neuroimaging Findings-A Case Report","authors":"D. Kumar","doi":"10.23880/crij-16000205","DOIUrl":"https://doi.org/10.23880/crij-16000205","url":null,"abstract":"Tuberous sclerosis (TS) is an autosomal dominant disorder, also known as Bourneville-Pringle disease. The disease is classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. The major sign and symptoms include, central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations with Epilepsy being the most common symptoms and affects 70% - 90% of patients.","PeriodicalId":198632,"journal":{"name":"Clinical Radiology & Imaging Journal","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123957251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}