keyword
https://read.qxmd.com/read/38824264/distinct-neurological-phenotypes-associated-with-biallelic-loss-of-notch3-function-evidence-for-recessive-inheritance
#1
JOURNAL ARTICLE
Behnoosh Tasharrofi, Ali Najafi, Elham Pourbakhtyaran, Susan Amirsalari, Golazin Shahbodagh Khan, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Mohammad Keramatipour, Morteza Heidari
BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, some null NOTCH3 variants with homozygous inheritance cause neurological symptoms distinct from CADASIL. The aim of this study was to expand the clinical spectrum of this distinct condition and provide further evidence of its autosomal recessive inheritance. METHODS AND RESULTS: Whole exome sequencing (WES) was performed on a proband who exhibited livedo racemosa, ataxia, cognitive decline, seizures, and MRI white matter abnormalities without anterior temporal pole lesions...
June 1, 2024: Molecular Biology Reports
https://read.qxmd.com/read/38824091/utilisation-of-radiographer-comments-to-reduce-errors-in-the-radiology-department
#2
JOURNAL ARTICLE
Allie Tonks, Caitlin Tu, Ingrid Klobasa
INTRODUCTION: Radiographer commenting is a written account of suspected abnormalities identified on medical imaging examinations by the radiographer at the time of image acquisition. Radiographer comments were originally implemented to support emergency clinicians; however, they may also have the potential to support radiologists in reducing missed findings. Therefore, the aim of this study was to investigate if a newly implemented radiographer comment system could reduce the number of errors made in radiology reports for general X-rays...
May 31, 2024: Journal of Medical Imaging and Radiation Sciences
https://read.qxmd.com/read/38823225/xanthogranulomatous-appendicitis-presenting-asymptomatically-3%C3%A2-years-after-surgery-for-hilar-cholangiocarcinoma-a-case-report
#3
Nobuhisa Tanioka, Michio Kuwahara, Takashi Sakai, Yuzuko Nokubo, Makoto Hiroi, Toyokazu Akimori
INTRODUCTION: Xanthogranulomatous appendicitis (XGA) is a rare condition involving chronic inflammation of the appendix that is often difficult to distinguish from malignancy using imaging because of the formation of a heterogeneous mass with indistinct borders. Herein, we present a case of XGA with unusual clinical manifestations. PRESENTATION OF CASE: A 78-year-old female patient underwent radical resection of hilar cholangiocarcinoma with extended right hepatic lobectomy and biliary reconstruction...
May 23, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38822623/nans-cdg-expanding-clinical-insights-with-a-novel-patient-with-novel-variants
#4
Sukdong Yoo, Chong Kun Cheon
N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defect in the N-acetyl-neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS-CDG patient. A 10-year-old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum, and ventriculomegaly at birth, and at 10 years, a very short stature. He had a history of idiopathic chronic immune thrombocytopenia, central adrenal insufficiency, and hypothyroidism since infancy...
June 1, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38819344/consideration-of-disease-penetrance-in-the-selection-of-secondary-findings-gene-disease-pairs-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg
#5
Adam S Gordon, Kristy Lee, Noura S Abul-Husn, Laura M Amendola, Kyle Brothers, Wendy K Chung, Michael H Gollob, Steven M Harrison, Ray E Hershberger, C Sue Richards, Douglas R Stewart, Christa Lese Martin, David T Miller
No abstract text is available yet for this article.
May 30, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38818009/heterotopic-pancreas-unusual-cause-of-usual-diarrhoea
#6
REVIEW
V Murali, Deep Mashru, N Bharavi, Monika Pohekar, Rajesh S Shinde
Heterotopic pancreas (HP) also known as ectopic pancreas, pancreatic crest or accessory pancreas is the normal pancreatic tissue, found in a remote area other than its natural location, with no anatomic or vascular connection to main pancreatic tissue. It is a rare congenital anomaly and has been reported at many locations such as stomach (antrum) and small intestine. HP is usually an incidental finding and asymptomatic, however there are reports of pancreatitis, obstruction, perforation and malignant transformation as uncommon manifestations...
May 2024: Indian Journal of Surgical Oncology
https://read.qxmd.com/read/38817469/giant-ulcerated-colonic-lipoma-in-an-asymptomatic-patient
#7
Madeline J Washburn, Christopher Johnson
Colonic lipomas are benign masses typically found incidentally during routine screening exams. They rarely grow large enough to become symptomatic. While most colonic lipomas are small and do not lead to complications, giant lipomas can present with symptoms ranging from changes in bowel patterns and mild abdominal pain to bowel obstruction. Ulcerated giant colonic lipomas are even more rare findings on screening colonoscopies. Diagnosis in this context can be challenging, and resection is warranted in most cases...
April 2024: Curēus
https://read.qxmd.com/read/38817235/focal-incidental-colorectal-fluorodeoxyglucose-uptake-should-it-be-spotlighted
#8
EDITORIAL
Haejun Lee, Kyung-Hoon Hwang
Fluorine-18 fluorodeoxyglucose (F-18 FDG) positron emission tomography/computed tomography (PET/CT) has emerged as a cornerstone in cancer evaluation imaging, with a well-established history spanning several years. This imaging modality, encompassing the examination of the body from the base of the skull to the upper thighs, comprehensively covers the chest and abdominopelvic regions in a singular scan, allowing for a holistic assessment of nearly the entire body, including areas of marginal interest. The inherent advantage of this expansive scan range lies in its potential to unveil unexpected incidental abnormal hypermetabolic areas...
May 26, 2024: World Journal of Clinical Cases
https://read.qxmd.com/read/38816604/robotic-surgery-for-thymic-cysts-clinical-features-management-and-results-of-a-multicentric-study
#9
JOURNAL ARTICLE
Giacomo Cusumano, Elisa Meacci, Gaetano Romano, Marco Cavaleri, Maria Teresa Congedo, Federico Davini, Stefano Margaritora, Alberto Terminella, Franca Melfi
Thymic cysts are rare, radiological diagnosis is often incidental, and cysts seldom assume clinical relevance for symptoms of compression. Thymoma were occasionally found inside both complex and simple thymic cysts. Given the challenges in accurately clinical diagnosing and since the occasionally discovering of thymoma inside both complex and simple thymic cysts, the management of thymic cysts remains controversial. Advancements in surgical tools such as robotics, applied to thymic conditions, could potentially transform the approach to thymic cysts...
May 30, 2024: Updates in Surgery
https://read.qxmd.com/read/38816260/incidental-renal-cysts-found-by-point-of-care-ultrasound-a-retrospective-chart-review
#10
JOURNAL ARTICLE
Robert Allen, Gonzalo Paz-Soldan, Melissa Wilson, Jennifer Huang, Talib Omer, Thomas Mailhot, Dana Sajed
BACKGROUND: Incidental findings are unrelated to a patient's complaint, found on diagnostic imaging, such as point-of-care ultrasound (POCUS). Incidental findings represent potential harms to patients and may lead to increased patient anxiety and health care costs related to downstream testing and surveillance. STUDY OBJECTIVES: In this study, we aimed to calculate the rate of incidental renal cysts found by POCUS. Further, we hoped to describe how emergency physicians relay the findings to patients...
March 20, 2024: Journal of Emergency Medicine
https://read.qxmd.com/read/38816098/interstitial-lung-abnormalities-current-understanding
#11
REVIEW
Noriaki Wada, Gary M Hunninghake, Hiroto Hatabu
Interstitial lung abnormalities (ILAs) are incidental findings on computed tomography scans, characterized by nondependent abnormalities affecting more than 5% of any lung zone. They are associated with factors such as age, smoking, genetic variants, worsened clinical outcomes, and increased mortality. Risk stratification based on clinical and radiological features of ILAs is crucial in clinical practice, particularly for identifying cases at high risk of progression to pulmonary fibrosis. Traction bronchiectasis/bronchiolectasis index has emerged as a promising imaging biomarker for prognostic risk stratification in ILAs...
June 2024: Clinics in Chest Medicine
https://read.qxmd.com/read/38815854/artificial-intelligence-can-it-save-lives-hospitals-and-lung-screening
#12
JOURNAL ARTICLE
James R Headrick, Mitchell J Parker, Ashley D Miller
BACKGROUND: Early detection is essential in lung cancer survival. Lung screening or incidental detection on unrelated imaging holds the most promise for early detection. With the large volume of imaging performed today, management of incidental pulmonary nodules can be difficult. We hypothesized an artificial intelligence (AI) tool could reliably read all imaging reports, detect and effectively triage indeterminant pulmonary nodules without adding additional personnel, helping save lives...
May 28, 2024: Annals of Thoracic Surgery
https://read.qxmd.com/read/38815847/incidence-and-management-of-cardiothoracic-relevant-extrapulmonary-findings-found-on-low-dose-cts
#13
JOURNAL ARTICLE
Hamza Rshaidat, Luke Meredith, Jacob Woodroof, Itohan Aikhionbare, Scott H Koeneman, Christine Shusted, Brooke Ruane, Julie Barta, Olugbenga T Okusanya
BACKGROUND: We aim to investigate the incidence of extrapulmonary findings found on low-dose CT that may warrant evaluation by cardiothoracic surgeons and describe their management and referral patterns at our institution. METHODS: We conducted a retrospective cohort study of patients who underwent low-dose CT through a centralized Lung Cancer Screening Program at Thomas Jefferson University Hospital between January 2018 and December 2022. Chart review using the electronic medical record was performed for patients with incidental findings...
May 28, 2024: Annals of Thoracic Surgery
https://read.qxmd.com/read/38812950/frequency-and-clinical-significance-of-incidental-findings-on-cbct-imaging-a-retrospective-analysis-of-full-volume-scans
#14
JOURNAL ARTICLE
Charis Theodoridis, Spyros Damaskos, Christos Angelopoulos
OBJECTIVES: This retrospective study aims to identify incidental findings in cone-beam computed tomography scans of patients irradiated for preoperative evaluation for implant placement and obtained using the same imaging unit as well as the same field of view. The incidence of each incidental finding, as well as the overall incidence, were calculated and the findings were ranked according to their clinical significance. MATERIAL AND METHODS: A total of 741 cone-beam computed tomography (CBCT) examinations with extended field of view (15 x 15 cm) were retrospectively evaluated for incidental findings (IFs)...
2024: Journal of Oral & Maxillofacial Research
https://read.qxmd.com/read/38811381/-bilateral-nonarteritic-anterior-ischemic-optic-neuropathy-naion-in-thrombophila-incidental-finding-or-predisposing-risk-factor
#15
JOURNAL ARTICLE
Anne-Cécile Vandebroek, Karl T Boden, Gesine Szurman, Peter Szurman, Annekatrin Rickmann
No abstract text is available yet for this article.
May 29, 2024: Ophthalmologie
https://read.qxmd.com/read/38811287/update-on-advances-in-cystic-fibrosis-towards-a-cure-and-implications-for-primary-care-clinicians
#16
JOURNAL ARTICLE
Vito Terlizzi, Philip M Farrell
During the past quarter century, the diagnosis and treatment of cystic fibrosis (CF) have been transformed by molecular sciences that initiated a new era with discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The knowledge gained from that breakthrough has had dramatic clinical impact. Although once a diagnostic dilemma with long delays, preventable deaths, and irreversible pathology, CF can now be routinely diagnosed shortly after birth through newborn screening programs. This strategy of pre-symptomatic identification has eliminated the common diagnostic "odyssey" that was a failure of the healthcare delivery system causing psychologically traumatic experiences for parents...
May 28, 2024: Current Problems in Pediatric and Adolescent Health Care
https://read.qxmd.com/read/38808941/-giant-coronary-aneurysm-incidentally-detected-on-transthoracic-echocardiography-in-a-patient-with-previous-bentall-procedure
#17
JOURNAL ARTICLE
Francesco Briani, Alberto Dotto, Antonio Mugnolo
Coronary artery aneurysms represent a rare pathology (0.2-4.9% of patients undergoing coronary angiography) that may reach considerable size. The clinical presentation is various, manifesting as acute coronary syndrome or, conversely, remaining silent lifelong. We here report the case of an incidental finding by transthoracic echocardiography of a paracardiac mass of considerable size in a patient with vasculopathy that underwent a Bentall procedure for acute aortic dissection 18 years earlier. On thoracic computed tomography angiography, a 62 mm-sized giant aneurysm located in the proximal right coronary artery was evidenced...
June 2024: Giornale Italiano di Cardiologia
https://read.qxmd.com/read/38808864/incidental-diagnosis-of-cardiac-fibroma-in-an-infant-with-acute-viral-bronchiolitis
#18
JOURNAL ARTICLE
Yasmine Gorczevski Pigosso, Izabela Mara Fogiato, Gabriela Guimarães Vieira, André Vaz, Ana Paula Percicote, Bruno Hideo Saiki Silva, Paulo Ramos David João
OBJECTIVE: Pediatric cardiac tumors are rare and, among them, 90% are benign. Cardiac fibroma is the second most frequent tumor, after rhabdomyoma. The objective of this study is to report a case of cardiac fibroma diagnosed incidentally in a patient admitted with acute viral bronchiolitis. CASE DESCRIPTION: A 5-month-old male infant was admitted to the pediatric emergency department with acute viral bronchiolitis requiring hospitalization. He presented a detectable respiratory syncytial virus in oropharyngeal swab, blood test with lymphocytosis and a chest radiography revealed cardiomegaly...
2024: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://read.qxmd.com/read/38808758/-not-available
#19
REVIEW
Mikkel Bundgaard Skotting, Anders Vedel Holst, Tina Nørgaard Munch
This review investigates that there has been an increase in incidental brain MRI findings due to better technology and more scans. These unexpected, asymptomatic anomalies range from harmless to serious, requiring careful clinical and ethical handling. The prevalence of incidental findings with brain MRI is 4.2% and even higher when including white matter hyperintensities. There is a significant variation in this number dependent on the age of the person being scanned and the MRI quality.
May 13, 2024: Ugeskrift for Laeger
https://read.qxmd.com/read/38808305/prehabilitation-exercise-therapy-ahead-of-elective-abdominal-aortic-aneurysm-repair-a-commentary-of-existing-evidence-to-inform-clinical-practise
#20
JOURNAL ARTICLE
Zundus Ali-Heybe, Areej Mohamed, Oliver Hamer, James Hill
Abdominal aortic aneurysm (AAA) is a condition in which the abdominal aorta becomes enlarged, posing a risk of rupture and life-threatening haemorrhage. Abdominal aortic aneurysm accounts for a substantial number of fatalities worldwide, with mortality rates of up to 80 percent. Abdominal aortic aneurysms are often asymptomatic and are frequently discovered incidentally during tests for unrelated conditions. Surgery is required for aneurysms exceeding 5.5cm in men and 5cm in women, but post-surgical complications such as intra-abdominal adhesions, limb ischaemia and renal failure are common...
October 2, 2023: British journal of cardiac nursing
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