Search results for " clinical case"
showing 7 items of 7 documents
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2020
Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…
A questionable diagnosis in a woman with drowsiness
2019
A 60-year-old caucasian woman was admitted to our Division of Internal Medicine for a 10-day history of drowsiness, irritability, dysphasia, weakness and difficulties in the maintenance of an upright position with numerous falls, with a traumatic lumbar spine injury and on the left shoulder. Then, while general clinical conditions were getting worse with drowsiness and hyposthenia of the right side of the body, after neurological evaluation, she was recovered in hospital. Pathological history includes a 20-year epilepsy and depression with emotional lability, behavior’s disorders and attempted suicide. For such reason, she was followed in a mental health institute, treated with phenobarbita…
Il fondamento epistemologico della psicoanalisi freudiana nei casi clinici del 1895
2019
Nel rivolgere lo sguardo all’intera produzione di Sigmund Freud, in primo luogo la memoria storica suggerisce di prestare attenzione al contenuto de L’interpretazione dei sogni (del 1899) e di Al di là del principio di piacere (del 1920). Il testo di queste due opere denota l’evoluzione epistemologica della ricerca svolta dal padre della psicoanalisi, sino a giungere alle opere della maturità. I concetti di «isteria», «ipnosi» e «metodo catartico » consentono di riscontrare l’assunzione definitiva del metodo maieutico, esposto negli scritti della maturità e degli ultimi anni. Mi riferisco in particolare, oltre a La negazione (del 1925), soprattutto a Analisi terminabile e interminabile e Co…
Mediastinal syndrome from plasmablastic lymphoma in human immunodeficiency virus and human herpes virus 8 negative patient with polycythemia vera: a …
2017
Background: Plasmoblastic lymphoma is a rare and aggressive subtype of diffuse large B cell lymphoma, which occurs usually in the jaw of immunocompromised subjects. Case presentation: We describe the occurrence of plasmoblastic lymphoma in the mediastinum and chest wall skin of an human immunodeficiency virus-negative 63-year-old Caucasian man who had had polycytemia vera 7 years before. At admission, the patient showed a superior vena cava syndrome, with persistent dyspnoea, cough, and distension of the jugular veins. Imaging findings showed a 9.7 × 8 × 5.7 cm mediastinal mass. A chest wall neoformation biopsy and ultrasound-guided fine-needle aspiration biopsy of the mediastinal mass allo…
Limitations of Immunohistochemistry in Diagnosis of a Primary Mucinous Carcinoma of the Skin and Its Metastasis
2020
We describe the case of a 67-year-old female patient who presented with an unclear swelling on the right supraclavicular neck, two years after resection of a mucinous carcinoma on the right mastoid. Two pathological reports from separate universities diagnosed the primary mastoid skin lesion as a metastatic adenocarcinoma. Strikingly, GATA binding protein 3 (GATA3) and mammaglobin, both immunomarkers found in breast cancer, were positive. An urgent search for the primary tumor most likely in the breast was commenced. However, as no other primary tumor could be detected at that time, a Primary Mucinous Carcinoma of the Skin (PMCS) was also debated. Two years later neck node enlargement was s…
Lexicographic studies in medicine: Academic Word List for clinical case histories
2013
Medical texts are often thought to pertain to a closed community, but how far the language used by that community overlaps with general academic lexis is unknown. We examined a corpus of clinical case histories using the software RANGE to characterise the lexis of clinical case histories quantitatively and present a wordlist for clinical medicine. Only 58% of the general academic wordlists are found in clinical texts but the 85% overlap with an important academic wordlist, the Coxhead 570, furnishes evidence for the academic nature of the lexis used for clinical cases in Medicine. There was little overlap (38%) between our clinical case wordlist and other wordlists of medical research artic…