scholarly journals The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Marialuigia Spinelli ◽  
Carmine Sica ◽  
Bruno Dallapiccola ◽  
Antonio Novelli ◽  
Letizia Di Meglio ◽  
...  
Keyword(s):  
Disease Gene ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Molecular Testing ◽  
Nucleotide Change ◽  
Prenatal Diagnostic ◽  
Genitourinary Anomalies ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested.Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing ofMID1gene (Xp22.3) at birth.Results. Sequencing ofMID1gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS.Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

Das Ganglion des Hüftgelenkes als Differentialdiagnose eines pulsierenden Leistentumors

VASA ◽  
2000 ◽  
Vol 29 (1) ◽  
pp. 75-76 ◽  
Author(s):  
Paolo Claudio Cassina ◽  
Hauser ◽  
Kossmann ◽  
Brunner
Keyword(s):  
Doppler Ultrasonography ◽  
Ganglion Cyst ◽  
Correct Diagnosis ◽  
Imaging Methods ◽  
The Past ◽  
Ganglion Cysts ◽  
Duplex Doppler ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Ganglion cysts of the hip joint are uncommon synovial-lined fluid-filled juxtaarticular groin lesions. Whereas in the past the correct diagnosis was often made only at surgery there are now valuable imaging methods used for the diagnostic work-up. In experienced hands ultrasonography (US) combined with colour duplex Doppler ultrasonography (CDDS) as a real-time imaging technique easily performed at the patient’s bedside is a valid alternative to more expensive or invasive investigations. We report on a patient who presented with a ganglion cyst and in whom first supported by conventional US an aneurysm of the femoral artery was suspected. The diagnosis of a juxtaarticular ganglion was subsequently correctly made at our institution by CDDS and magnetic resonance imaging, respectively, and the cyst was exstirpated successfully. The differential diagnosis of a pulsating groin mass as well as the most useful and specific imaging methods in the diagnostic work-up in this clinical setting are discussed.

scholarly journals Stroke masquerading as cardiac arrest: the artery of Percheron

2021 ◽  
Vol 14 (1) ◽  
pp. e238681
Author(s):  
Megan Quetsch ◽  
Sureshkumar Nagiah ◽  
Stephen Hedger
Keyword(s):  
Cardiac Arrest ◽  
Clinical Assessment ◽  
Altered Consciousness ◽  
Cognitive Changes ◽  
Consciousness Level ◽  
Artery Of Percheron ◽  
Conscious Level ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

The artery of Percheron (AOP) is a rare arterial variant of the thalamic blood supply. Due to the densely packed collection of nuclei it supplies, an infarction of the AOP can be devastating. Here we highlight a patient who had an AOP stroke in the community, which was initially managed as cardiac arrest. AOP strokes most often present with vague symptoms such as reduced conscious level, cognitive changes and confusion without obvious focal neurology, and therefore are often missed at the initial clinical assessment. This case highlights the importance of recognising an AOP stroke as a cause of otherwise unexplained altered consciousness level and the use of MRI early in the diagnostic work-up.

scholarly journals Death of unknown cause? Post-mortem diagnosis of fulminant course of an EBV-associated secondary hemophagocytic lymphohistiocytosis

2021 ◽  
Author(s):  
Josia Fauser ◽  
Stefan Köck ◽  
Eberhard Gunsilius ◽  
Andreas Chott ◽  
Andreas Peer ◽  
...  
Keyword(s):  
Immune Response ◽  
Case Report ◽  
Macrophage Activation ◽  
Post Mortem ◽  
Life Threatening ◽  
Appropriate Therapy ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
Secondary Hemophagocytic Lymphohistiocytosis

SummaryHLH is a life-threatening disease, which is characterized by a dysregulated immune response with uncontrolled T cell and macrophage activation. The often fulminant course of the disease needs a fast diagnostic work-up to initiate as soon as possible the appropriate therapy. We present herein the case of a 71-year-old patient with rapidly progressive hyperinflammatory syndrome, which post mortem resulted in the diagnosis of EBV-associated HLH. With this case report, we intend to highlight the relevance of the HScore in the diagnosis of HLH, to create a greater awareness for EBV as a trigger of HLH, and to demonstrate the importance of treating EBV-associated HLH as early as possible.

scholarly journals COVID-19 lung injury as a primer for immune checkpoint inhibitors (ICIs)-related pneumonia in a patient affected by squamous head and neck carcinoma treated with PD-L1 blockade: a case report

2021 ◽  
Vol 9 (2) ◽  
pp. e001870
Author(s):  
Angelo Dipasquale ◽  
Pasquale Persico ◽  
Elena Lorenzi ◽  
Daoud Rahal ◽  
Armando Santoro ◽  
...  
Keyword(s):  
Lung Injury ◽  
Head And Neck ◽  
Checkpoint Inhibitors ◽  
Experimental Therapy ◽  
Common Mechanism ◽  
Nasopharyngeal Swab ◽  
Immune Mediated ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

By the beginning of the global pandemic, SARS-CoV-2 infection has dramatically impacted on oncology daily practice. In the current oncological landscape, where immunotherapy has revolutionized the treatment of several malignancies, distinguishing between COVID-19 and immune-mediated pneumonitis can be hard because of shared clinical, radiological and pathological features. Indeed, their common mechanism of aberrant inflammation could lead to a mutual and amplifying interaction.We describe the case of a 65–year-old patient affected by metastatic squamous head and neck cancer and candidate to an experimental therapy including an anti-PD-L1 agent. COVID-19 ground-glass opacities under resolution were an incidental finding during screening procedures and worsened after starting immunotherapy. The diagnostic work-up was consistent with ICIs-related pneumonia and it is conceivable that lung injury by SARS-CoV-2 has acted as an inflammatory primer for the development of the immune-related adverse event.Patients recovered from COVID-19 starting ICIs could be at greater risk of recall immune-mediated pneumonitis. Nasopharyngeal swab and chest CT scan are recommended before starting immunotherapy. The awareness of the phenomenon could allow an easier interpretation of radiological changes under treatment and a faster diagnostic work-up to resume ICIs. In the presence of clinical benefit, for asymptomatic ICIs-related pneumonia a watchful-waiting approach and immunotherapy prosecution are suggested.

scholarly journals Long-Term Follow-Up of Thyroid Incidentalomas Visualized with 18F-Fluorodeoxyglucose Positron Emission Tomography—Impact of Thyroid Scintigraphy in the Diagnostic Work-Up

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 557
Author(s):  
Kirsten Korsholm ◽  
Michala Reichkendler ◽  
Louise Alslev ◽  
Åse Krogh Rasmussen ◽  
Peter Oturai
Keyword(s):  
Emission Tomography ◽  
Thyroid Scintigraphy ◽  
Fdg Uptake ◽  
Positron Emission ◽  
Pet Ct ◽  
18F Fdg ◽  
Diagnostic Work ◽  
Fdg Pet Ct ◽  
Work Up ◽  
Diagnostic Work Up

Our objective was to evaluate the frequency of malignancy in incidental thyroidal uptake on 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) in a cohort of Danish patients, and furthermore to evaluate the impact of thyroid scinti-graphy in the diagnostic work-up. All whole-body PET/CT reports from 1 January 2010 to 31 December 2013 were retrospectively reviewed and further analyzed if visually increased thyroidal FDG uptake was reported. Patient electronic files were searched for further thyroid evaluation. Of 13,195 18F-FDG-PET/CT scans in 9114 patients, 312 PET/CT reports mentioned incidental thyroid FDG-uptake, and 279 patients were included in the study (3.1%). The thyroid was further investigated in 137 patients (49%), and 75 patients underwent thyroid scintigraphy. A total of 57 patients had a thyroid biopsy and 21 proceeded to surgery. Surgical specimens displayed malignancy in 10 cases, and one thyroid malignancy was found by autopsy. Hence, 11 patients were diagnosed with thyroid malignancies among 279 patients with incidental thyroid 18F-FDG uptake (3.9%). In 34 patients, a biopsy was avoided due to the results of the thyroid scintigraphy. We conclude that patients with thyroid incidentalomas can benefit from further diagnostic work-up including a thyroid scintigraphy.

scholarly journals General practitioner use of D-dimer in suspected venous thromboembolism: historical cohort study in one geographical region in the Netherlands

BMJ Open ◽  
2019 ◽  
Vol 9 (5) ◽  
pp. e026846 ◽  
Author(s):  
Angel M R Schols ◽  
Eline Meijs ◽  
Geert-Jan Dinant ◽  
Henri E J H Stoffers ◽  
Mariëlle M E Krekels ◽  
...  
Keyword(s):  
Cohort Study ◽  
General Practitioner ◽  
Clinical Assessment ◽  
Geographical Region ◽  
Historical Cohort ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
D Dimer

ObjectivesTo investigate how many general practitioner (GP)-referred venous thromboembolic events (VTEs) are diagnosed during 1 year in one geographical region and to investigate the (urgent) referral pathway of VTE diagnoses, including the role of laboratory D-dimer testing.DesignHistorical cohort study.SettingGP patients of 47 general practices in a demarcated geographical region of 161 503 inhabitants in the Netherlands.ParticipantsWe analysed all 895 primary care patients in whom either the GP determined a D-dimer value or who had a diagnostic work-up for suspected VTE in a non-academic hospital during 2015.Primary and secondary outcome measuresThe primary outcomes of this study were the total number of VTEs per year and the diagnostic pathways—including the role of GP determined D-dimer testing—of patients urgently referred to secondary care for suspected VTE. Additionally, we explored the use of an age-adjusted D-dimer cut-off.ResultsThe annual VTE incidence was 0.9 per 1000 inhabitants. GPs annually ordered 5.1 D-dimer tests per 1000 inhabitants. Of 470 urgently GP-referred patients, 31.3% had a VTE. Of those urgently referred based on clinical assessment only (without D-dimer testing), 73.8% (96/130) had a VTE; based on clinical assessment and laboratory D-dimer testing yielded 15.0% (51/340) VTE. Applying age-adjusted D-dimer cut-offs to all patients aged 50 years or older resulted in a reduction of positive D-dimer results from 97.9% to 79.4%, without missing any VTE.ConclusionsAlthough D-dimer testing contributes to the diagnostic work-up of VTE, GPs have a high detection rate for VTE in patients who they urgently refer to secondary care based on clinical assessment only.

Feasibility of dynamic MR-hysterosalpingography for the diagnostic work-up of infertile women

2010 ◽  
Vol 51 (6) ◽  
pp. 693-701 ◽  
Author(s):  
Leopold Winter ◽  
Thomas Glücker ◽  
Sabine Steimann ◽  
Johannes M. Fröhlich ◽  
Wolfgang Steinbrich ◽  
...  
Keyword(s):  
Infertile Women ◽  
Diagnostic Work ◽  
Work Up ◽  
Dynamic Mr ◽  
Diagnostic Work Up
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