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Biomedical subjects

G Pasquinelli

Publications and source records attributed to G Pasquinelli.

At least 37 records · Page 2Linked to original sources
PubMed2000

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.

We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjögren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E.

Adult↗
PubMed1999

GANT-like gastrointestinal pacemaker cell tumours with oncocytic features.

We describe two cases of gastrointestinal stromal tumours with prominent oncocytic features. Both had features consistent with differentiation towards the interstitial cells of Cajal (CC). They were composed of nests and bundles of cells with abundant, deeply granular, eosinophilic cytoplasm. Immunohistochemical investigations revealed positivity with c-kit, vimentin and CD34 antibodies in both neoplasms. Ultrastructurally the neoplastic cells showed characteristic features of CC; they had synapse-like structures and dense core cytoplasmic granules. Oncocytic features were confirmed by immunohistochemistry using anti-mitochondrion antibody in both cases and by electron microscopy in one case (case 1). Although the CC are frequently described as mitochondrion-rich cells, oncocytic changes have not previously been reported as a feature of gastrointestinal autonomic nerve tumour (GANT)-like stromal tumours.

Adenoma, Oxyphilic↗
PubMed1999

Leiomyoma of the uterus showing skeletal muscle differentiation: a case report.

A case of uterine leiomyoma with skeletal muscle differentiation is described. The patient is a 40-year-old woman who underwent abdominal hysterectomy and left salpingo-oophorectomy for fibroids. Evidence of skeletal muscle differentiation was evident at light and electron microscopy in one out of three "ordinary" leiomyomas. This was also shown by positive immunoreactions with antiskeletal muscle actin and myoglobin antisera. To our knowledge, this is the second case reported of the occurrence of skeletal muscle differentiation within a uterine leiomyoma and highlights the divergent differentiating potential of smooth muscle cells.

Actins↗
PubMed1999

Beta-HCG aberrant expression in primary mediastinal large B-cell lymphoma.

We report on a primary mediastinal large B-cell lymphoma with aberrant expression of beta-human chorionic gonadotropin (beta-hCG). The patient, a 33-year-old man, had cough, dyspnea, fever, superior vena cava syndrome, and a mediastinal bulky tumor. A biopsy showed that the latter was characterized by large cells, sclerosis, and compartmentalization. The neoplastic elements expressed CD45, CD20, CD79a and, partially, CD30, whereas they were negative for CD3, epithelial membrane antigen and cytokeratins. Surprisingly, they displayed a clear-cut positivity for beta-hCG. The remaining oncofetal markers applied (PLAP and alpha1-fetoprotein) were negative. Electron microscopy demonstrated the presence of numerous nuclear pockets and the lack of intercellular junctions. DNA analysis by polymerase chain reaction showed clonal rearrangement of Ig heavy-chain genes. The patient responded promptly to the administration of MACOP-B. To the best of our knowledge, this is the first example of B-cell lymphoma showing positivity for beta-hCG; a similar aberrant expression was previously observed only in three Japanese patients with human T-cell lymphotropic virus type I+ adult T-cell lymphoma/leukemia. Because primary mediastinal large B-cell lymphoma has in the past been frequently confused with germ cell tumors, pathologists should be aware of possible beta-hCG expression by lymphomatous cells to avoid the risk of misdiagnosis.

Adult↗
PubMed1998

Identification of mitochondria in liver biopsies. A study by immunohistochemistry, immunogold and Western blot analysis.

Hepatocytes are rich in mitochondria, which play an important role in hepatic metabolism. In certain pathologic conditions (most often alcoholic liver disease) mitochondria became enlarged; nevertheless, even in these conditions they are hardly detectable on light microscopy. Recently an antimitochondrial antibody (mAM), which recognizes a 60-kDa protein, has been characterized. The purpose of the present study was to study immunoreactivity of this antibody in a series of liver biopsies. We studied 146 liver biopsies using an mAM. In 8 cases an ultrastructural study was also done, and in 2 cases Western blot analysis was performed. Cases were divided as follows: alcoholic liver disease (ALD, 31); steatosis (8); nonalcoholic steatohepatitis (NASH, 1); hepatitis C virus (HCV)-related hepatitis (83); hepatitis B virus (HBV)-related hepatitis (6); primary biliary cirrhosis (1); sclerosing cholangitis (1); haemosiderosis (1); sarcoidosis (1); alpha-1-antitrypsin deficiency (1); nonspecific findings (12). All the patients were investigated for alcohol or drug abuse, pharmacological treatment, hyperlipidaemia, hypercholesterolaemia and diabetes. Immunoreactivity was diffuse in cases of ALD, NASH and steatosis, and in patients with drug abuse. Electron microscopic immunogold and Western blot analysis confirmed that in the conditions examined the protein recognized by the mAM showed greater expression. Immunohistochemical staining was helpful in demonstrating a toxic or a metabolic insult even in cases in which the histological picture was blurred by viral infection.

Adult↗
PubMed1998

Benign spindle cell tumor of the breast with prominent adipocytic component.

We report a rare case of "benign spindle cell tumor of the breast with prominent adipocytic component" and present a review of the literature on the topic. The close morphologic resemblance with myofibroblastoma and spindle cell lipoma of the breast is emphasized and used as a starting point for diagnostic and histogenetic considerations. Although immunocytochemistry and electron microscopy showed features favoring a diagnosis of spindle cell lipoma, they were not conclusive. The tumor described here contributes to widen the spectrum of the benign spindle cell tumors of the breast variously named "benign spindle cell tumor," myofibroblastoma, spindle cell lipoma, and fibroma. It is important to distinguish this lesion from spindle cell metaplastic carcinoma and aggressive fibromatosis.

Adipocytes↗
PubMed1998

Primary endocervical extraosseous Ewing's sarcoma/PNET.

A 36-year-old woman presented with intermenstrual spotting and was found to have a cystic mass involving the uterine cervix on a pelvic ultrasound examination. A necrotic and hemorrhagic tumor was excised by hysterectomy and processed for light and electron microscopic investigation and molecular analysis. Microscopic examination revealed a small round cell tumor that immunohistochemical studies (including staining for the highly restricted surface antigen p30/32MIC2) and ultrastructural studies indicated was an extraosseous Ewing's sarcoma (EES)/primitive neuroectodermal tumor (PNET). This diagnosis was established by detection of EWS/ERG fusion transcript through reverse transcription polymerase chain reaction (RT-PCR) with nested primers. Full body computed tomography failed to detect any extrauterine tumor, and the patient is clinically free of disease 18 months after hysterectomy. This case represents the first report of a primary EES/PNET arising in the uterine cervix.

Adult↗
PubMed1998

Kufs' disease presenting as late-onset epilepsia partialis continua.

A 64-year-old woman, who had no personal or family history of neurologic diseases, had an 18-month history of epilepsia partialis continua (EPC) associated with a moderate intellectual deterioration and subtle extrapyramidal rigidity. There was no photosensitive response. A thorough laboratory investigation was unremarkable. A biopsy of the rectal mucosa revealed abundant fingerprint profiles diagnostic of Kufs' disease (KD). Our case expands the clinical picture of KD and suggests that such a diagnosis should be considered in adult-onset EPC.

Age of Onset↗
PubMed1998

["Black adenoma" associated with medullary nodular hyperplasia in the ipsilateral adrenal gland. Case report and review of the literature regarding "mixed" cortico-medullary pathology].

BACKGROUND: Pigmented or "black" cortical adenoma is a rare variant of the compact or eosinophilic cell type of adrenal gland cortical adenoma. Usually it is non functioning so representing an incidental finding at autopsy, but rare cases producing Cushing's syndrome or hyperaldosteronism have been reported. The simultaneous occurrence of a cortical adenoma and pheochromocytoma in the ipsilateral adrenal gland is an extremely rare event, which has been so far described only seven times with the cortical adenoma always being of the usual yellow or clear cell type. So far no case of "black adenoma" associated with a proliferative condition of the ipsilateral adrenal medulla has ben described. CASE REPORT: A case of functioning pigmented ("black") cortical adenoma in a male patient affected by Cushing's syndrome associated with asymptomatic medullary nodular hyperplasia in the ipsilateral adrenal gland is described. The results of light microscopy, histochemistry, immunohistochemistry, and electron microscopy studies are presented. It is worthy of note the finding of two types of pigment granules (lipofuscin type, neuromelanin type) observed at elecatron microscopy. CONCLUSIONS: The authors underline the difficulty of classifying adrenal medullary nodules and the arbitrarity usually adopted in separating nodular adrenal medullary hyperplasia from early neoplasia (pheochromocytoma). Thus nodular medullary hyperplasia in this case could also be interpreted as an early neoplastic condition. The case herein presented is the first report of a combined cortico-medullary proliferative process in which a "black" adenoma is involved.

Adrenal Cortex↗
PubMed1998

[Lymph node dissemination of a serious Pneumocystis carinii respiratory infection in AIDS: histopathological and ultrastructural aspects].

A case report of isolated lymph node extension of atypical respiratory Pneumocystis carinii infection which occurred in an HIV-infected patient undergoing aerosolized pentamidine prophylaxis is presented with its histopathological and ultrastructural features. AIDS-associated extrapulmonary and disseminated pneumocystosis are discussed on the ground of their frequency, localizations, risk factors, clinical presentation, and outcome.

AIDS-Related Opportunistic Infections↗
PubMed1998

[Clear cell sarcoma of soft tissues. Clinico-pathological and ultrastructural analysis of a case in the head-neck region and a literature review].

BACKGROUND: Clear cell sarcoma of soft tissues (CCSST), even synonymically termed malignant melanoma of soft tissues, is a peculiar malignant tumor with both a prolonged clinical course and a final poor prognosis. Whilst its neuroectodermal histogenesis is most likely, its nosological position is still a matter of debate. Light microscopy (LM), immunocytochemistry (ICC), and electron microscopy (EM) investigations have shown both a melanocytic and schwannian differentiation. Recent findings from cytogenetic analysis documenting a reciprocal translocation between the long arms of chromosomes 12 and 22 [t(12:22)(q13;q12.2)] not seen in cutaneous melanomas nor in other neurogenic sarcomas support CCSST as a distinct entity. MATERIALS AND METHODS: A case of CCSST arising in the preparotid region of a young man with a clinical history of two previous surgical interventions was admitted in 1994 and is herein reported. This patient was previously cured twice in different institutions: the first time he was diagnosed with a "melanoma, NOS" of the face and surgically treated 10 years earlier. The second time--meaning one year earlier the admission--this patient was again surgically treated for a local recurrence which was interpreted as a myoepithelioma (clear cell type) of salivary gland origin. A morphological, immunocytochemical, and ultrastructural analysis performed on the last recurrence is herein presented. RESULTS: On LM the tumor exhibited the classic morphological appearance comprised both of clear and eosinophilic cells with prominent nucleoli, focally containing cytoplasmic granules of melanin pigment. At ICC expression of vimentin and S-100 protein was diffusely demonstrated as well as the melanoma associated antigen HMB-45 was even albeit focally documented.

Adult↗
PubMed1997

Poorly differentiated myoepithelial cell rich carcinoma of the breast.

Three unusual cases of invasive breast carcinoma are reported, each comprising a dual malignant cellular proliferation consisting of 'ordinary' epithelial cells as well as myoepithelial cells haphazardly intermingled. The cases displayed features which did not match any of the four main types of invasive malignant breast tumours containing myoepithelial elements, i.e. adenomyoepithelioma, adenoid cystic carcinoma, pure myoepithelioma and low-grade adenosquamous carcinoma. The designation of 'poorly differentiated myoepithelial cell rich carcinoma' (PDMC) is proposed for these tumours.

Aged↗