Venous compression syndromes: clinical features, imaging findings and management.
Ontology highlight
ABSTRACT:
SUBMITTER: Butros SR
PROVIDER: S-EPMC3798333 | biostudies-other | 2013 Oct
REPOSITORIES: biostudies-other
Similar Datasets
Project description:ObjectiveWe aimed to provide ideas for clinicians, especially radiologists, for the diagnosis of multiple endocrine neoplasia (MEN) syndromes.BackgroundMEN syndromes include MEN1, MEN2, and MEN4 and usually involve 2 or more endocrine tumors. The MEN syndromes are a group of euchromatic dominant genetic diseases, and the main genes involved include MEN1 (MEN1), RET (MEN2), and CDKN1B (MEN4).MethodsIn this article, involving 8 cases (4 cases of MEN1, 2 cases of MEN2A, 1 case of MEN2B, 1 case of MEN4) from our center, we introduced the disease spectrum, clinical manifestations (especially imaging findings), and related genes involved in each type of MEN syndromes. We also discussed the differential diagnosis between MEN and sporadic tumors and emphasized that MEN should be screened and the relevant required examinations.ConclusionsConsidering that MEN syndromes involve multiple endocrine gland tumors and nonendocrine organ diseases, it is very important to identify potential patients early and perform multiple examinations on them, including biochemical and multitype, and multisite imaging examinations according to the disease spectrum of each type. Considering that this is a group of genetic diseases, both interviewing patients about their family history and genetic testing are also very important. Only in this way can a comprehensive and accurate diagnosis be made, enabling patients to receive appropriate treatment and improve their prognosis.
| S-EPMC8263874 | biostudies-literature
Project description:Abdominopelvic vascular compression syndromes include a variety of uncommon conditions characterized by either extrinsic compression of blood vessels by adjacent anatomical structures (i.e., median arcuate ligament syndrome, nutcracker syndrome, May-Thurner syndrome) or compression of hollow viscera by adjacent vessels (i.e., superior mesenteric artery syndrome, ureteropelvic junction obstruction, ureteral vascular compression syndromes, portal biliopathy). These syndromes can be unexpectedly diagnosed even in asymptomatic patients and the predisposing anatomic conditions can be incidentally discovered on imaging examinations performed for other indications, or they can manifest with atypical abdominal symptoms and acute complications, which may lead to significant morbidity if unrecognized. Although computed tomography (CT) is an accurate noninvasive technique for their detection, the diagnosis remains challenging due to the uncommon clinical presentation and often overlooked imaging features. Dynamic imaging may be performed in order to evaluate patients with inconstant symptoms manifesting in a specific position. The purposes of this paper are to review the CT imaging findings of abdominopelvic vascular compression syndromes, correlating with anatomical variants and to provide key features for the noninvasive imaging diagnosis.
| S-EPMC7078419 | biostudies-literature
Project description:Changing trends in multiple sclerosis (MS) epidemiology may first be apparent in the childhood population affected with first onset acquired demyelinating syndromes (ADSs). We aimed to determine the incidence, clinical, investigative and magnetic resonance imaging (MRI) features of childhood central nervous system ADSs in the British Isles for the first time.We conducted a population active surveillance study. All paediatricians, and ophthalmologists (n = 4095) were sent monthly reporting cards (September 2009-September 2010). International Paediatric MS Study Group 2007 definitions and McDonald 2010 MS imaging criteria were used for acute disseminated encephalomyelitis (ADEM), clinically isolated syndrome (CIS) and neuromyelitis optica (NMO). Clinicians completed a standard questionnaire and provided an MRI copy for review.Card return rates were 90%, with information available for 200/222 positive notifications (90%). After exclusion of cases, 125 remained (age range 1.3-15.9), with CIS in 66.4%, ADEM in 32.0% and NMO in 1.6%. The female-to-male ratio in children older than 10 years (n = 63) was 1.52:1 (p = 0.045). The incidence of first onset ADS in children aged 1-15 years old was 9.83 per million children per year (95% confidence interval [CI] 8.18-11.71). A trend towards higher incidence rates of ADS in children of South Asian and Black ethnicity was observed compared with White children. Importantly, a number of MRI characteristics distinguished ADEM from CIS cases. Of CIS cases with contrast imaging, 26% fulfilled McDonald 2010 MS diagnostic criteria.We report the highest surveillance incidence rates of childhood ADS. Paediatric MS diagnosis at first ADS presentation has implications for clinical practice and clinical trial design.
| S-EPMC3409874 | biostudies-literature
Project description:Rationale and objectivesPrimary spinal epithelioid hemangioendothelioma (SEHE) is an extremely rare angiocentric vascular neoplasm with inherent metastatic potential, which pursues a clinical course intermediate between hemangioma and angiosarcoma. The present study sought to present computed tomography (CT) and magnetic resonance imaging (MRI) findings and clinical features of primary SEHE and review the literature.Materials and methodsClinical data of four patients with primary SEHE confirmed by pathology from January 2011 to May 2020 were analyzed retrospectively. Two cases underwent CT scan, while 3 cases underwent MRI scan. Image observation included the tumor location, bone changes, morphology, density/signal characteristics, and enhanced features.ResultsThe four patients were all women who ranged in age from 25 to 74 years. Four cases of the lesions were in the vertebral body; among them, two cases involved the accessory of the vertebra. Soap bubble appearance was detected in 2 cases, honeycomb osteolytic appearance in 2 cases, a sclerotic margin in 3 cases, and accompanying vertebral compression fracture in 1 case. CT showed a slightly inhomogeneous low density with punctate high-density foci. MRI showed an inhomogeneous low signal on T1-weighted image (T1WI) and a high signal on T2WI. Contrast-enhanced CT/MRI demonstrated moderate to intensive inhomogeneous enhancement of the lesions. The discs were normal. In one case, lesions presented a dural tail sign.ConclusionsPrimary SEHE is so rare in the clinic as an aggressive vascular tumor. The relatively typical clinical features and radiographic findings can help in preoperative diagnosis.
| S-EPMC9190255 | biostudies-literature
Project description:The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.
| S-EPMC4032094 | biostudies-literature
Project description:Pancreatic cancer (PC) is one of the most devastating malignancies; it has a 5-year survival rate of only 9%, and novel treatment strategies are urgently needed. While most PC cases occur sporadically, PC associated with hereditary syndromes or familial PC (FPC; defined as an individual having two or more first-degree relatives diagnosed with PC) accounts for about 10% of cases. Hereditary cancer syndromes associated with increased risk for PC include Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma, familial adenomatous polyposis, Lynch syndrome and hereditary breast and ovarian cancer syndrome. Next-generation sequencing of FPC patients has uncovered new susceptibility genes such as PALB2 and ATM, which participate in homologous recombination repair, and further investigations are in progress. Previous studies have demonstrated that some sporadic cases that do not fulfil FPC criteria also harbor similar mutations, and so genomic testing based on family history might overlook some susceptibility gene carriers. There are no established screening procedures for high-risk unaffected cases, and it is not clear whether surveillance programs would have clinical benefits. In terms of treatment, poly (ADP-ribose) polymerase inhibitors for BRCA-mutated cases or immune checkpoint inhibitors for mismatch repair deficient cases are promising, and clinical trials of these agents are underway.
| S-EPMC6387417 | biostudies-literature
Project description:TP53 dysregulation plays a pivotal role in the molecular pathogenesis of myelodysplastic syndromes (MDS), identifying a subgroup of patients with peculiar features. In this review we report the recent biological and clinical findings of TP53-mutated MDS, focusing on the molecular pathways activation and on its impact on the cellular physiology. In MDS, TP53 mutational status is deeply associated with del(5q) syndrome and its dysregulation impacts on cell cycle, DNA repair and apoptosis inducing chromosomal instability and the clonal evolution of disease. TP53 defects influence adversely the MDS clinical outcome and the treatment response rate, thus new therapeutic approaches are being developed for these patients. TP53 allelic state characterization and the mutational burden evaluation can therefore predict prognosis and identify the subgroup of patients eligible for targeted therapy. For these reasons, in the era of precision medicine, the MDS diagnostic workup cannot do without the complete assessment of TP53 mutational profile.
| S-EPMC7279310 | biostudies-literature
Project description:Injuries of the deltoid ligament of the ankle are increasingly recognized with the widespread use of magnetic resonance (MR) imaging. The use of higher magnetic field strengths requires familiarity with the anatomic substructure of the deltoid ligament to better localize and characterize pathologic findings. Specifically, improved image resolution allows components of the superficial (tibiocalcaneal, tibionavicular, posterior superficial tibiotalar, and tibiospring ligaments) and deep (anterior tibiotalar and posterior deep tibiotalar ligaments) portions of the ligament to be evaluated separately. Awareness of the deltoid ligament substructure and associated injury patterns can guide the radiologist in defining underlying mechanical derangement, such as that seen in various impingement disorders. In this review article, the MR imaging technique for the deltoid ligament is summarized, and the normal and abnormal MR imaging appearances of various components of the deltoid ligament and associated impingement syndromes are presented.
| S-EPMC2868501 | biostudies-other
Project description:ObjectiveThis narrative review discusses posterior circulation cerebral infarcts (PCCI) and provides an update given recent randomized trials in the management of basilar artery occlusion (BAO). We examine clinical characteristics, imaging protocols, management updates, and outcomes of PCCI.MethodsThe following databases were searched: MEDLINE, Scopus, Google Scholar, and Web of Science for articles on PCCI. We included randomized trials and observational studies in humans. We also reviewed relevant references from the literature identified.ResultsPCCI and BAO is associated with high morbidity and mortality. Early assessment and accurate diagnosis of PCCI remains a clinical challenge. Neuroimaging advances have improved early detection, but barriers remain due to costs and availability. Recent randomized trials provide new insights for BAO patients and support the efficacy of endovascular thrombectomy.DiscussionPCCI requires specific diagnostic and management that is distinct from anterior circulation stroke. While further studies are needed in varied populations and in the subset of BAO patients presenting with milder deficits, growing randomized data support the treatment of BAO patients with endovascular thrombectomy.
| S-EPMC10511775 | biostudies-literature
Project description:BackgroundSystemic aspergillosis is a manifestation of Aspergillus sp. infection that can result in central nervous system (CNS) involvement with marked alterations in CNS function. Information regarding the clinical presentation and magnetic resonance imaging (MRI) findings in cases of aspergillosis with CNS involvement is lacking, resulting in a need for better understanding of this disease.Hypothesis/objectivesThe primary objectives were to describe the clinical features and MRI findings in dogs with CNS aspergillosis. The secondary objectives were to describe clinicopathologic findings and case outcome.AnimalsSeven dogs with CNS aspergillosis.MethodsArchived records from 6 institutions were reviewed to identify cases with MRI of CNS aspergillosis confirmed with serum galactomannan enzyme immunoassay (EIA) testing, culture, or supported by histopathology. Signalment, clinical, MRI, clinicopathologic, histopathologic, and microbiologic findings were recorded and evaluated.ResultsAspergillosis of the CNS was identified in 7 dogs from 3 institutions. The median age was 3 years and six were German Shepherd dogs. Five dogs had signs of vestibular dysfunction as a component of multifocal neurological abnormalities. The MRI findings ranged from normal to abnormal, including hemorrhagic infarction and mass lesions.Conclusions and clinical importanceUntil now, all reported MRI findings in dogs with CNS aspergillosis have been abnormal. We document that CNS aspergillosis in dogs, particularly German Shepherd dogs, can be suspected based on neurologic signs, whether MRI findings are normal or abnormal. Confirmatory testing with galactomannan EIA, urine, cerebrospinal fluid (CSF) or tissue culture should be performed in cases where aspergillosis is a differential diagnosis.
| S-EPMC4895661 | biostudies-literature