scholarly journals How to Tackle Tremor – Systematic Review of the Literature and Diagnostic Work-Up

2012 ◽  
Vol 3 ◽  
Author(s):  
A. W. G. Buijink ◽  
M. F. Contarino ◽  
J. H. T. M. Koelman ◽  
J. D. Speelman ◽  
A. F. van Rootselaar
Keyword(s):  
Systematic Review ◽  
Review Of The Literature ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

scholarly journals Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review

2021 ◽  
Author(s):  
Raffaele Falsaperla ◽  
Laura Sciuto ◽  
Luisa La Spina ◽  
Sarah Sciuto ◽  
Andrea D. Praticò ◽  
...  
Keyword(s):  
Systematic Review ◽  
Central Nervous System Infection ◽  
Intraventricular Haemorrhage ◽  
Electrolyte Imbalance ◽  
Metabolic Decompensation ◽  
Neonatal Seizures ◽  
Inborn Errors ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

AbstractNeonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic encephalopathy, hypoglycemia, electrolyte imbalance, neonatal stroke or central nervous system infection. Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in case of NS especially if these are resistant to common antiseizure drugs (ASDs) and with metabolic decompensation. Nowadays, Expanded Newborn Screening (ENS) has changed the natural history of some IEMs allowing a rapid diagnosis and a prompt onset of specific therapy; nevertheless, not all IEMs are detected by such screening (e.g. Molybdenum-Cofactor Deficiency, Hypophosphatasia, GLUT1-Deficiency Syndrome) and for this reason neonatologists have to screen for these diseases in the diagnostic work-up of NS. For IEMs, there are not specific semiology of seizures and EEG patterns. Herein, we report a systematic review on those IEMs that lead to NS and epilepsy in the neonatal period, studying only those IEMs not included in the ENS with tandem mass, suggesting clinical, biochemical features, and diagnostic work-up. Remarkably, we have observed a worse neurological outcome in infants undergoing only a treatment with common AED for their seizures, in comparison to those primarily treated with specific anti-convulsant treatment for the underlying metabolic disease (e.g.Ketogenic Diet, B6 vitamin). For this reason, we underline the importance of an early diagnosis in order to promptly intervene with a targeted treatment without waiting for drug resistance to arise.

scholarly journals Pubic Osteomyelitis after Treatment for Prostate Cancer A Case Report and Review of the Literature

2018 ◽  
Vol 2 (3) ◽  
pp. 1-4
Author(s):  
Els Van Nieuwenhuyse
Keyword(s):  
Prostate Cancer ◽  
Laboratory Tests ◽  
Medical Condition ◽  
Rare Complication ◽  
Treatment Options ◽  
Review Of The Literature ◽  
Surgical Modality ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Osteomyelitis pubis is a known, rare complication related with the treatment of prostate cancer. It can occur after surgery, radiotherapy and after ultrasound therapy. The latency between the treatment modality and the onset of the osteomyelitis is different for all treatment options. Symptoms are mostly subtle and non - specific, causing a delay in the diagnosis. For the diagnostic work - up, clinical examination, laboratory tests and medical imaging are necessary. The irrevocable diagnosis will be made by culture of a bone aspirate. Treatments consist of antibiotic therapy and surgery. The medical condition of the patient and the location of the infection determine the type and extent of the surgical modality.

Aplastic anaemia in childhood. Description of two cases and review of the literature

Open Medicine ◽  
2009 ◽  
Vol 4 (3) ◽  
pp. 363-368
Author(s):  
Maria Scalzone ◽  
Paola Coccia ◽  
Palma Maurizi ◽  
Giorgio Attinà ◽  
Lucia Liotti ◽  
...  
Keyword(s):  
Aplastic Anaemia ◽  
Opportunistic Infections ◽  
Supportive Therapy ◽  
Review Of The Literature ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Timely Treatment ◽  
Diagnostic Work Up ◽  
Fatal Complications

AbstractChildhood aplastic anaemia (AA) is an uncommon but potentially fatal haematological disorder. Patients with AA receive supportive care based on transfusions and timely treatment of opportunistic infections, along with specific therapies, which may be bone marrow transplantation and immunosuppressive therapy. Early diagnosis and supportive therapy are required to prevent fatal complications like overwhelming sepsis or life threatening haemorrhages. We report two cases of aplastic anaemia having a different aetiology. The diagnostic work-up and the therapeutic management for each case are described below.

Cardiac Paraganglioma: Diagnostic Work Up and Review of the Literature

2012 ◽  
Vol 112 (4) ◽  
pp. 310-313 ◽  
Author(s):  
M. Sook ◽  
E. Hamoir ◽  
L. de Levai ◽  
S. Duquenne” ◽  
R. Larbuissotf ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

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.

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