scholarly journals Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

2015 ◽  
Vol 18 (1) ◽  
pp. 71-76 ◽  
Author(s):  
Abdullah Ozyurt ◽  
A. Baykan ◽  
M. Argun ◽  
O. Pamukcu ◽  
H. Halis ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Early Onset ◽  
Poor Prognosis ◽  
Clinical Presentation ◽  
Severe Form ◽  
Early Age ◽  
Newborn Period ◽  
Heart Failure Treatment ◽  
Failure Treatment ◽  
Atypical Clinical Presentation

Abstract Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

Hebephrenia is dead, long live hebephrenia, or why Hecker and Chaslin were on to something

2019 ◽  
Vol 25 (6) ◽  
pp. 373-376 ◽  
Author(s):  
Alvaro Barrera ◽  
Owen Curwell-Parry ◽  
Marie-Claire Raphael
Keyword(s):  
Mental Illness ◽  
Differential Diagnosis ◽  
Personality Disorder ◽  
Emotional Expression ◽  
Early Onset ◽  
Clinical Presentation ◽  
Severe Form ◽  
Thought Disorder ◽  
Formal Thought Disorder ◽  
Dsm 5

SUMMARYSince its first description in 1863, ‘hebephrenia’ has highlighted a group of patients characterised by an early onset of illness, formal thought disorder, bizarre behaviour and incongruent emotional expression. A proportion of patients with the most severe form of mental illness have a clinical presentation that is best captured by this diagnosis. Here, we outline the construct of hebephrenia and two of its core overlapping constituent parts: bizarre behaviour and the disorganisation dimension. We argue that, despite the removal of hebephrenia (disorganised schizophrenia) from DSM-5, clinicians should consider it as a differential diagnosis, particularly in suspected personality disorder.

Cardiac Tumors in Pediatric Patients: A Systematic Review

2017 ◽  
Vol 8 (5) ◽  
pp. 624-632 ◽  
Author(s):  
Aspasia Tzani ◽  
Ilias P. Doulamis ◽  
Konstantinos S. Mylonas ◽  
Dimitrios V. Avgerinos ◽  
Dimitrios Nasioudis
Keyword(s):  
Systematic Review ◽  
Poor Prognosis ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Current Evidence ◽  
Cardiac Tumors ◽  
Tumor Relapse ◽  
The Poor ◽  
Atypical Clinical Presentation ◽  
Primary Cardiac Tumors

This systematic review sought to investigate the current evidence regarding surgical management of primary cardiac tumors in children and adolescents. Twenty-eight studies were deemed eligible, reporting on 745 pediatric patients. Rhabdomyoma was the most prevalent histologic type and echocardiography was the most common diagnostic tool. Cumulative 30-day mortality rate was 6.7%. Rhabdomyomas and teratomas had the highest 30-day mortality. The higher percentage of tumor relapse was noted for myxoma and teratoma. Although cardiac tumors are rare, their atypical clinical presentation, potential for recurrence, and the poor prognosis associated with recurrence elucidate the need for reliable diagnostic and therapeutic management.

scholarly journals Evaluating cognitive profiles of patients undergoing clinical amyloid-PET imaging

2021 ◽  
Author(s):  
Flavia Loreto ◽  
Stephen Gunning ◽  
Mara Golemme ◽  
Hilary Watt ◽  
Neva Patel ◽  
...  
Keyword(s):  
Episodic Memory ◽  
Pet Imaging ◽  
Memory Impairment ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Early Age ◽  
Amyloid Pet ◽  
Positive Group ◽  
Atypical Clinical Presentation ◽  
Amyloid Pet Imaging

Abstract Episodic memory impairment and brain amyloid-beta are two of the main hallmarks of Alzheimer’s Disease. In the clinical setting, these are often evaluated through neuropsychological testing and amyloid PET imaging, respectively. The use of amyloid PET in clinical practice is only indicated in patients with substantial diagnostic uncertainty due to atypical clinical presentation, multiple comorbidities and/or early age of onset. The relationship between amyloid-beta and cognition has been previously investigated, but no study has examined how neuropsychological features relate to the presence of amyloid pathology in the clinical population that meets the appropriate use criteria for amyloid PET imaging. In this study, we evaluated a clinical cohort of patients (n = 107) who presented at the Imperial Memory Clinic and were referred for clinical amyloid PET and neuropsychological assessment as part of their diagnostic workup. We compared the cognitive performance of amyloid-positive patients (Aβ-pos, n = 47) with that of stable amyloid-negative (stableAβ-neg, n = 26) and progressive amyloid-negative (progAβ-neg, n = 34) patients. The amyloid-positive group performed significantly worse than both amyloid-negative groups in the visuospatial and working memory domains. Episodic memory performance, however, effectively differentiated the amyloid-positive group from the stable but not the progressive amyloid-negative group. On affective questionnaires, the stable amyloid-negative group reported significantly higher levels of depression than the amyloid-positive group. In our clinical cohort, visuospatial dysfunction and working memory impairment were better indicators of amyloid positivity than episodic memory dysfunction. These findings highlight the limited value of isolated cognitive scores in patients with atypical clinical presentation, comorbidities and/or early age of onset.

First Data of Clinical Presentation of Siblings with Diagnosed Marfan Syndrome: Many but Not All

2016 ◽  
Vol 64 (S 02) ◽  
Author(s):  
F. Seggewies ◽  
F. Arndt ◽  
R. Kozlik-Feldmann ◽  
G. Müller ◽  
J. Olfe ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Clinical Presentation

scholarly journals Clinical and angiographic characteristics of patients with STEMI and confirmed diagnosis of COVID-19: an experience of Tanta University Hospital

2020 ◽  
Vol 72 (1) ◽  
Author(s):  
Ahmed Alaarag ◽  
Timoor Hassan ◽  
Sameh Samir ◽  
Mohamed Naseem
Keyword(s):  
Poor Prognosis ◽  
Management Strategy ◽  
Clinical Presentation ◽  
Underlying Mechanism ◽  
Fibrinolytic Therapy ◽  
University Hospital ◽  
Total Occlusion ◽  
St Elevation ◽  
Primary Management ◽  
D Dimer

Abstract Background Patients with established cardiovascular diseases have a poor prognosis when affected by the coronavirus disease 2019 (COVID-19). Also, the cardiovascular system, especially the heart, is affected by COVID-19. So we aimed to evaluate the angiographic and clinical characteristics of COVID-19 patients presented by ST-elevation myocardial infarction (STEMI). Results Our retrospective study showed that STEMI patients with COVID-19 had elevated inflammatory markers with mean of their CRP (89.69 ± 30.42 mg/dl) and increased laboratory parameters of thrombosis with mean D-dimer (660.15 ± 360.11 ng/ml). In 69.2% of patients, STEMI was the first clinical presentation and symptoms suggestive of COVID-19 developed during the hospital stay; about one third of patients had a non-obstructive CAD, while patients with total occlusion had a high thrombus burden. Conclusion STEMI may be the initial presentation of COVID-19. A non-obstructive CAD was found in about one third of patients; on the other hand, in patients who had a total occlusion of their culprit artery, the thrombus burden was high. Identification of the underlying mechanism responsible for the high thrombus burden in these patients is important as it may result in changes in their primary management strategy, either primary PCI, fibrinolytic therapy, or a pharmaco-invasive strategy. Furthermore, adjunctive anticoagulation and antiplatelet therapy may need to be revised.

scholarly journals Aquapheresis for Heart Failure Treatment in a Community Hospital: Is It Effective?

2017 ◽  
Vol 23 (8) ◽  
pp. S105-S106
Author(s):  
Sindhu Avula ◽  
Bhavna Toprani ◽  
Anupam Suneja ◽  
Marlo Leonen ◽  
Gaurav Vashishta
Keyword(s):  
Heart Failure ◽  
Community Hospital ◽  
Heart Failure Treatment ◽  
Failure Treatment

scholarly journals Atypical Clinical Presentation of Laryngopharyngeal Reflux: A 5-Year Case Series

2021 ◽  
Vol 10 (11) ◽  
pp. 2439
Author(s):  
Jerome R. Lechien ◽  
Stéphane Hans ◽  
Francois Bobin ◽  
Christian Calvo-Henriquez ◽  
Sven Saussez ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Laryngopharyngeal Reflux ◽  
Case Series ◽  
Clinical Findings ◽  
Aerodigestive Tract ◽  
Common Disease ◽  
Upper Aerodigestive Tract ◽  
Suppurative Otitis Media ◽  
Adequate Treatment ◽  
Atypical Clinical Presentation

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.

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