Publications by authors named "Giulio Fraternali-Orcioni"

Article Synopsis
  • * CML is diagnosed through a specific genetic translocation, while most Ph-negative MPNs have unique mutations in genes like Janus kinase 2, calreticulin, or the thrombopoietin receptor, often displaying mutually exclusive mutations.
  • * The text discusses a rare case of primary myelofibrosis with both a mutation and a translocation, highlighting the need to understand the implications of these genetic factors on diagnosis, treatment, and patient outcomes based on existing literature. *
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  • A study assessed the role of abnormal p53 expression in 370 patients with low-risk endometrial cancer (EC), discovering that 4.9% had p53 abnormalities, which could indicate a higher recurrence risk.
  • Among the patients, 3.6% experienced recurrences, with those exhibiting abnormal p53 expression having a 5.23 times higher odds of recurrence compared to those with normal p53.
  • Although there was no significant difference in overall survival between the two groups, the findings suggest that molecular classification for p53 abnormalities may help tailor treatment in future studies of low-risk EC patients.
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Myeloproliferative neoplasms (MPNs) are classified into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. translocation is the key genetic event of CML, whereas mutations are molecular aberrations of Ph-negative MPNs. Despite initially considered mutually exclusive genetic aberrations, the co-occurrence of and has been reported in a limited number of cases.

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Study Objective: To demonstrate a laparoscopic technique to remove a scar pregnancy.

Design: Stepwise demonstration of the surgical technique.

Setting: Santa Croce and Carle Hospital, Cuneo.

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Microcystic/reticular (MRV) schwannoma has been described since 2008, but remains a rarely encountered entity. MRV has a predilection for visceral locations and has variable histologic appareances. Given its rarity and anatomic variability, this entity could raise differential diagnostic issues with other tumours and malignancies.

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Chemotherapy could induce benign liver alterations presenting as diffuse or focal lesions mimicking metastases. Oxaliplatin-induced vascular liver injury is described in literature, but the association with FNH-like lesions has been reported in a limited number of cases. We herewith describe the case of a 67-year-old male, who had laparoscopic right-sided hemicolectomy, 8 years ago, because of colonic adenocarcinoma (pT3N0M0) and subsequent adjuvant chemotherapy (capecitabine + oxaliplatin), who referred to the ultrasound service of our Radiology Unit because of abdominal pain.

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  • The discovery of a partially mummified body with trauma signs necessitates a thorough examination by forensic pathologists, often involving multiple disciplines.
  • The case involved an elderly man's body found in his home over seven years post-mortem, revealing significant injuries like a cranial fracture and acute subdural hematoma.
  • Despite the detailed analysis that clarified the cause of death, it remained unclear whether the injuries were due to an accident or an assault.
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Peripheral neuroblastic tumors are extremely rare in the adult with less just over 20 cases involving adrenal gland described in the literature. We reported herewith the case of a 22-year-old young male who presented with epigastric pain and diarrhea. Imaging studies documented a 3.

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Aim: We report a particular case study of the unexpected death of a 70-year-old caucasian man (affected by crohn's disease) due to the laceration of the ileocolic mesentery and its blood vessels following a colonoscopy procedure carried out only a few hours previously.

Material Of The Study: The autopsy showed that the lacerated blood vessels (i.e.

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Varices are the main clinical manifestation of portal hypertension, and their bleeding is the predominant cause of mortality from this condition. Periumbilical varices are known as "caput medusae." Reports of their bleeding are rare, with only three fatal cases described in the literature.

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Article Synopsis
  • Immunoglobulin M multiple myeloma and Waldenström macroglobulinemia are distinct but overlapping blood disorders characterized by the presence of immunoglobulin M monoclonal gammopathy.
  • Two cases highlight the importance of accurate diagnosis despite similar bone marrow presentation; one patient had multiple myeloma with different treatments compared to the other's diagnosis of Waldenström macroglobulinemia.
  • Differentiating between these conditions is crucial for appropriate treatment, emphasizing the need for thorough diagnostic evaluations, including cytogenetics and mutation testing.
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Acute myeloid leukemia (AML) is characterized by the rapid growth of abnormal white blood cells in the bone marrow that interferes with the production of normal blood cells. This disease is burdened by a high risk of bleeding complications involving central nervous system hemorrhages, purpura, gingival bleeding, and gastrointestinal bleeding. In this article, the authors report a case of a fatal intracerebral hemorrhage in a 21-year-old man who was affected by an undiagnosed AML.

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Background: Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm that can arise in many different organs with a broad spectrum of biological behavior, from indolent to aggressive progression. Only ten cases of gastric PEComas have been reported in the English literature, which were treated with endoscopic, laparoscopic, or open resections. Due to its rarity, the optimal surgical management and prognosis of this tumor are still uncertain.

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Background: Fibrin-associated diffuse large B-cell lymphoma (FA-DLBCL) is a rare Epstein-Barr virus (EBV) positive lymphoproliferative disorder included in the current World Health Organization (WHO) classification. It arises within fibrinous material in the context of hematomas, pseudocysts, cardiac myxoma or in relation with prosthetic devices. In these clinical settings the diagnosis requires an high index of suspicion, because it does not form a mass itself, being composed of small foci of neoplastic cells.

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Intravascular lymphoma (IVL) is a rare subtype of extranodal lymphomas that is characterized by the selective growth of neoplastic cells within the lumen of small vessels. Authors document the case of an unexpected death caused by an undiagnosed intravascular large B-cell lymphoma with multi-organ involvement, which had initially manifested as an infection and then as an unclarified central nervous system pathology. Histological examination showed a diffuse intravascular large B-cell brain lymphoma with prominent cerebral involvement.

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Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate homeostasis. The overproduction of fibroblast growth factor 23 causes a paraneoplastic syndrome characterized by hyperphosphaturia, hypophosphatemia, hypovitaminosis D, and vitamin D refractory rickets/osteomalacia, effects that disappear with tumor removal. The PMT may occur in several anatomic regions, mainly in the limbs, usually involving both soft tissue and bone.

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3,4-Methylenedioxymethamphetamine (MDMA), more commonly known as "ecstasy," is a semi-synthetic entactogenic phenylethylamine. In recent years it has gained popularity as a recreational drug whose use has registered an upward trend especially among adolescents and young adults. Despite its unwarranted reputation of being a "safe" drug, the actual scientific data denote that it actually leaves a trail of cardio-toxicity, above and beyond its neurotoxicity and other somatic effects.

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Article Synopsis
  • Spontaneous esophageal rupture, known as Boerhaave syndrome, is a serious condition caused by sudden pressure increases in the esophagus, often linked to prior lesions like Mallory-Weiss syndrome.
  • The case follow a 45-year-old individual who died from acute cardio-respiratory failure, leading to an autopsy that uncovered a full-thickness rupture of the esophagus.
  • The findings suggest that the rupture developed from an untreated partial esophageal lesion that escalated, highlighting the need to recognize that distal esophageal tears can be part of a broader spectrum of injuries that may worsen without proper intervention.
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We describe a rare case of intracranial malignant triton tumor (MTT) arising in the middle cranial fossa in a 74-year-old female patient who had previously been exposed to radiation in the Chernobyl disaster. The patient underwent a surgical subtotal removal of the mass and radiation therapy, but the progression-free survival was only 2.5 months and death occurred four months after the onset of symptoms.

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Cysts of the pineal gland are benign lesions. Often asymptomatic, in the majority of cases they are discovered incidentally during brain magnetic resonance imaging or autopsy. Sporadically, however, they may cause such symptoms as chronic headache, loss of consciousness, corticospinal and sensory impairment, and, in some cases, even sudden death.

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