scholarly journals 79 Platypnea–orthodeoxia syndrome as an uncommon cause of dyspnoea in a nonagenarian with aortic dissection

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Marco Lombardi ◽  
Marco Giuseppe Del Buono ◽  
Giuseppe Princi ◽  
Gabriella Locorotondo ◽  
Antonella Lombardo ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Oxygen Desaturation ◽  
Ascending Aortic Aneurysm ◽  
Intracardiac Shunt ◽  
Functional Defect ◽  
Life Threatening ◽  
History Of ◽  
Diagnostic Work ◽  
Work Up ◽  
Treatable Condition

Abstract Methods and results Platypnea–Orthodeoxia syndrome (POS) is an uncommon but challenging clinical condition characterized by positional dyspnoea (platypnea) and arterial desaturation (orthodeoxia) in the upright position that improve in the supine position. POS can occur insidiously, as progressive unexplained oxygen desaturation for months or years, or as acute life-threatening unexplained hypoxaemia. The most common cause is the presence of an intracardiac shunt (patent foramen ovale and other interatrial defects) associated with a secondary anatomic or functional defect that serve as substrate for a right to left intracardiac shunt leading to oxygen desaturation. Conclusions Herein we present the case of a nonagenarian with a known history of ascending aortic aneurysm, that was admitted to the emergency department of our institution with a complaint of intermittent chest pain and dyspnoea. POS was then diagnosed, and the patient underwent a successful percutaneous closure with an Amplatzer™ device (25/25 mm) with minimal residual right-to-left shunt leading to a significant relief of the dyspnoea and improvement of arterial saturation. We also herein revise the clinical presentation, pathophysiology, diagnostic work-up, and management of patients with POS, aiming at increasing the awareness of this uncommon but often misdiagnosed treatable condition.

scholarly journals CNS inflammatory demyelinating disorders: MS, NMOSD and MOG antibody associated disease

2019 ◽  
Vol 68 (2) ◽  
pp. 321-330 ◽  
Author(s):  
Jacqueline F Rosenthal ◽  
Benjamin M Hoffman ◽  
William R Tyor
Keyword(s):  
Clinical Presentation ◽  
Clinical Indicators ◽  
Demyelinating Disorder ◽  
Neurological Exam ◽  
History Of ◽  
Mog Antibodies ◽  
Diagnostic Work ◽  
Demyelinating Disorders ◽  
Work Up ◽  
Reliable Testing

Although Multiple Sclerosis is the most common central nervous system (CNS) inflammatory demyelinating disorder, other CNS inflammatory disorders should be included as diagnostic considerations. Neuromyelitis Optica Spectrum Disorder (NMOSD) and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease are less common but share some clinical characteristics, such as optic neuritis and myelitis, which can make a specific diagnosis challenging. However, these disorders have distinctive and generally different clinical phenotypes, prognosis and management. It is imperative to distinguish each from one another, especially since the treatments (not discussed in this review) can be different. The advent of reliable testing for anti-aquaporin-4 for NMOSD and anti-MOG antibodies has helped significantly; however, diagnosis can remain challenging, especially in sero-negative cases. Clinical indicators are important to guide diagnostic work-up. Careful review of the history, neurological exam, imaging, and/or spinal fluid results are essential to making an accurate diagnosis. In this review, we will examine the clinical presentation, diagnosis, and natural history of these inflammatory CNS disorders.

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.

Schwannomas of the Nose and Paranasal Sinuses

1993 ◽  
Vol 7 (2) ◽  
pp. 59-65 ◽  
Author(s):  
John R. Wanamaker ◽  
Hayes H. Wanamaker ◽  
Bernard Kotton ◽  
Greg D. Akers ◽  
Pierre Lavertu
Keyword(s):  
Paranasal Sinuses ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Diagnostic Techniques ◽  
Therapeutic Approaches ◽  
Management Philosophy ◽  
Nose And Paranasal Sinuses ◽  
Therapeutic Tools ◽  
Diagnostic Work ◽  
Work Up

Schwannomas are benign neoplasms arising from the peripheral nerve sheath. The sinonasal tract is an unusual location for these neoplasms. Because of their rarity, few series have been reported. Five previously unreported cases of schwannomas of the nose and paranasal sinuses are presented that illustrate the spectrum of disease. The clinical presentation, diagnostic work-up, clinical course, and diverse therapeutic approaches will be discussed. A management philosophy based on the diversity of these tumors and their clinical behavior, and incorporating the new diagnostic and therapeutic tools available to the clinician will be presented. The implications of newer diagnostic techniques including sinonasal endoscopy, magnetic resonance imaging, and immuno-chemistry in the diagnosis and treatment of these tumors will be discussed.

scholarly journals Adrenal Insufficiency - Aetiology, Diagnosis and Treatment

2015 ◽  
Vol 3 (1) ◽  
pp. 36-47
Author(s):  
Nazma Akter ◽  
Nazmul Kabir Qureshi
Keyword(s):  
Quality Of Life ◽  
Adrenal Insufficiency ◽  
Presenting Symptoms ◽  
Life Saving ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Term Management

Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis. Adrenal insufficiency, first codified in 1855 by Thomas Addison, remains relevant in 2014 because of its lethal nature. Though, it is a rare disease but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia and weight loss are nonspecific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain. The diagnosis is adequately established by the 250 ?g ACTH (adrenocorticotropic hormone) stimulation test in most cases. Glucocorticoids provide life saving treatment but long-term quality of life is impaired, perhaps because therapy is not given in a physiologic way. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. It may be useful in pubertal girls, but not in adults. Monitoring of glucocorticoid-replacement is difficult due to lack of objective methods of assessment and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist. DOI: http://dx.doi.org/10.3329/dmcj.v3i1.22238 Delta Med Col J. Jan 2015; 3(1): 36-47

scholarly journals Parasitic hypereosinophilia in childhood: a diagnostic challenge

2018 ◽  
Vol 10 (1) ◽  
pp. 2018034
Author(s):  
Roberto Antonucci ◽  
Nadia Vacca ◽  
Giulia Boz ◽  
Cristian Locci ◽  
Rosanna Mannazzu ◽  
...  
Keyword(s):  
Eosinophil Count ◽  
Hypereosinophilic Syndrome ◽  
Igg Antibodies ◽  
Diagnostic Challenge ◽  
Etiological Diagnosis ◽  
Maximum Value ◽  
History Of ◽  
Diagnostic Work ◽  
Patient’S History ◽  
Work Up

Severe hypereosinophilia (HE) in children is rare, and its etiological diagnosis is challenging. We describe a case of a 30-month-old boy, living in a rural area, who was admitted to our Clinic with a 7-day history of fever and severe hypereosinophilia. A comprehensive diagnostic work-up could not identify the cause of this condition. On day 6, the rapidly increasing eosinophil count (maximum value of 56,000/mm3), the risk of developing hypereosinophilic syndrome, and the patient’s history prompted us to undertake an empiric treatment with albendazole.The eosinophil count progressively decreased following treatment. On day 13, clinical condition and hematological data were satisfactory, therefore the treatment was discontinued and the patient was discharged. Three months later, anti-nematode IgG antibodies were detected in patient serum, thus establishing the etiological diagnosis. In conclusion, an empiric anthelmintic treatment seems to be justified when parasitic hypereosinophilia is strongly suspected, and other causes have been excluded.

scholarly journals Childhood Arterial Ischaemic Stroke: Clinical Presentation, Risk Factors and Management

2020 ◽  
Vol 40 (02) ◽  
pp. 165-173
Author(s):  
Lucia Gerstl ◽  
Michaela V. Bonfert ◽  
Florian Heinen ◽  
Martin Olivieri ◽  
Andreas Sebastian Schroeder ◽  
...  
Keyword(s):  
Ischaemic Stroke ◽  
Clinical Presentation ◽  
Stroke Care ◽  
Individual Risk ◽  
Social Environments ◽  
Adequate Treatment ◽  
Care Structure ◽  
Life Threatening ◽  
Arterial Ischaemic Stroke ◽  
Work Up

AbstractChildhood arterial ischaemic stroke (AIS) is a rare, but potentially life-threatening event which requires early diagnosis and adequate treatment. The reported significant time delay to childhood AIS diagnosis may be associated with low awareness, the more nonspecific clinical presentation as well as difficult clinical differentiation to more common “stroke mimics” and a less established “acute care structure” with delayed access to proper neuroimaging. Compared with adult stroke care, experiences with acute reperfusion therapies like thrombolysis and mechanical thrombectomy are promising but limited and not based on clinical trials. The etiological work-up is absolutely essential, as the child's individual risk profile determines acute management, secondary prevention, risk of recurrence and outcome. Follow-up care should be organized in a multidisciplinary setting covering all bio-psycho-social aspects to achieve the best integration of the child into its educational, later professional and social environments.

Status Epilepticus—Work-Up and Management in Children

2020 ◽  
Vol 40 (06) ◽  
pp. 661-674
Author(s):  
Cristina Barcia Aguilar ◽  
Iván Sánchez Fernández ◽  
Tobias Loddenkemper
Keyword(s):  
Status Epilepticus ◽  
Medical Emergency ◽  
First Line ◽  
Timely Manner ◽  
Treatment Protocols ◽  
Efficacious Treatment ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Medication Choice

AbstractStatus epilepticus (SE) is one of the most common neurological emergencies in children and has a mortality of 2 to 4%. Admissions for SE are very resource-consuming, especially in refractory and super-refractory SE. An increasing understanding of the pathophysiology of SE leaves room for improving SE treatment protocols, including medication choice and timing. Selecting the most efficacious medications and giving them in a timely manner may improve outcomes. Benzodiazepines are commonly used as first line and they can be used in the prehospital setting, where most SE episodes begin. The diagnostic work-up should start simultaneously to initial treatment, or as soon as possible, to detect potentially treatable causes of SE. Although most etiologies are recognized after the first evaluation, the detection of more unusual causes may become challenging in selected cases. SE is a life-threatening medical emergency in which prompt and efficacious treatment may improve outcomes. We provide a summary of existing evidence to guide clinical decisions regarding the work-up and treatment of SE in pediatric patients.

scholarly journals Mitochondrial Depletion Syndromes in Children and Adults

2013 ◽  
Vol 40 (5) ◽  
pp. 635-644 ◽  
Author(s):  
Josef Finsterer ◽  
Uwe Ahting
Keyword(s):  
Early Onset ◽  
Genetic Background ◽  
Clinical Presentation ◽  
Progressive External Ophthalmoplegia ◽  
Adult Onset ◽  
Chain Defects ◽  
Diagnostic Work ◽  
Work Up ◽  
Respiratory Chain Defects ◽  
Diagnostic Work Up

Abstract:To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, RRM2B, or PEO1/twinkle. Adult MDS manifest similarly to early-onset MDS, as myopathy, encephalo-myopathy, hepato-cerebral syndrome, or with chronic progressive external ophthalmoplegia (CPEO), fatigue, or only minimal muscular manifestations. Diagnostic work-up or treatment is not at variance from early-onset cases. Histological examination of muscle may be normal but biochemical investigations may reveal multiple respiratory chain defects. The outcome appears to be more favorable in adult than in early-onset forms. Mitochondrial depletion syndromes is not only a condition of neonates, infants, or juveniles but rarely also occurs in adults, presenting with minimal manifestations or manifestations like in the early-onset forms. Outcome of adult-onset MDS appears more favorable than early-onset MDS.

Sign in / Sign up

Export Citation Format

Share Document