Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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Δευτέρα 3 Μαΐου 2021

Analysis of key genes and related transcription factors in liver fibrosis based on bioinformatic technology

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):444-454. eCollection 2021.

ABSTRACT

OBJECTIVE: To analyze differentially expressed genes (DEGs) related to liver fibrosis, and clarify the key genes and the possible targets in the progression of liver fibrosis.

METHODS: Using microarray datasets, GSE38199 was extracted from Gene Expression Omnibus (GEO), and a bioinformatics method was performed to find DEGs and transcription factors related to liver fibrosis.

RESULTS: A total of 58 DEGs were screened out according to GEO2R online analysis tool, which included 49 up-regulated and 9 down-regulated genes. These DEGs were mainly involved in formation with the extracellular region and extracellular exosome through gene ontology (GO) enrichment analysis. Kyoto Encyclopedia of Gene and Genome (KEGG) pathway enrichment analysis showed that DEGs mainly participated in the PI3K-Akt signaling pathway, focal adhesion, ECM-receptor interaction, and metabolic pathways. Based on the results of the Protein-Protein Interaction (PPI) network and Molecular Complex Detection (MCODE) analysis, 9 key genes (COL1A1, FBN1, BGN, COL6A3, MMP2, FBLN5, LUM, PDGFRB, LOXL1) were screened out. A total of 30 transcription factors were found according to these 9 key genes, of which 4 transcription factors (Stat3, Trp53, NF-κB1, Sp1) were enriched.

CONCLUSION: Stat3, Trp53, NF-κB1, and Sp1 were all related to the development of liver fibrosis, and FBLN5 might be a target for liver fibrosis.

PMID:33936366 | PMC:PMC8085816

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Evolution of renal cyst to renal carcinoma: a case report and review of literature

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):463-468. eCollection 2021.

ABSTRACT

BACKGROUND: Renal cyst is a common benign disease which is rare to progress from simple renal cyst to renal cell carcinoma.

CASE PRESENTATION: A 62-year-old woman who suffered a simple renal cyst for over 20 years complained intermittent lumbar in recent 2 years. At her latest admission, the cyst lesion displayed enhancement in the cystic wall by CT scan and cystic to partially solid change by ultrasound, so we did a partial nephrectomy and found that the cystic lesion had become a cyst-solid transition. The pathology turned out to be renal clear cell carcinoma.

CONCLUSIONS: Although the canceration of a renal cyst is a small probability event, patients with a long history of a cyst, especially those with symptoms, need to seek for medical treatment in time, and if necessary, lesion biopsy or resection may be under consideration.

PMID:33936368 | PMC:PMC8085821

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Segmental arterial mediolysis of the middle colic artery: report of a case with special reference to lesions of small arteries and veins

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):508-513. eCollection 2021.

ABSTRACT

We report a case of segmental arterial mediolysis (SAM) that involved the middle colic artery, and present some pathologic alterations found in mesenteric small arteries and veins. The patient, a 52-year-old woman, underwent an emergency laparotomy for acute intra-abdominal hemorrhage, and a segment of the transverse colon with hemorrhagic mesocolon was excised. Microscopic examination demonstrated two separate lesions of SAM in the middle colic artery. The involved arterial segments showed a partial to circumferential loss of the media (mediolysis) and intima associated with the formation of a pseudoaneurysm. Smooth muscle cells adjacent to the mediolysis showed various degenerative changes. In addition, we found multiple, tiny foci of degenerative lesions affecting the outer media in the wall of small arteries. Subendothelial vacuoles and nodular intimal pro liferation were also noted in small veins. Whereas SAM chiefly affects large or medium-sized arteries, small blood vessels, including veins, are also affected. The present case is unusual in that degeneration of medial smooth muscle cells was clearly observed in the arterial walls, and the small veins were affected by lesions similar to those in arteries. We suspect that a phenotypic modulation of vascular smooth muscle cells induced by some genetic vulnerability plays a role in the pathogenesis of SAM.

PMID:33936374 | PMC:PMC8085823

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Expression and clinical significance of B cell translocation gene 2 in esophageal squamous cell carcinoma

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):475-483. eCollection 2021.

ABSTRACT

Esophageal squamous cell carcinoma (ESCC) is widely known as a highly fatal cancer, and thus it is important to identify tumor-specific and radiosensitivity-specific markers in ESCC. B cell translocation gene 2 (BTG2) has been considered a novel tumor suppressor gene or radiotherapy sensitivity-associated gene. However, the relationship between BTG2 and ESCC development and radiotherapy sensitivity is uncertain. The present study aims to explore the expression and clinical significance of B cell translocation gene 2 (BTG2) in ESCC by analyzing the RNAseq data from the TCGA and immunohistochemical staining of ESCC samples. We found that the level of BTG2 mRNA was significantly decreased in ESCC patients, and further decreased significantly in radiotherapy resistant patients compared to sensitive patients. The positive expression rate of BTG2 protein was 56.0% ( 103/184) in 184 ESCC tissue samples and 84.0% (42/50) in normal esophageal mucosal samples, respectively. The positive ratios of BTG2 expression in radiotherapy-sensitive group and radiotherapy resistant group were 57.9% (22/38) and 23.5% (4/17), respectively. Furthermore, the analysis indicates that the expression level of BTG2 significantly correlated with lymph node metastasis and clinical staging in ESCC patients. A multivariate analysis with Cox regression model showed that BTG2 level was an independent risk factor affecting the prognosis of ESCC patients. Above all, the downregulation of BTG2 may be used as a molecular marker to identify and predict ESCC progression and radiosensitivity.

PMID:33936370 | PM C:PMC8085815

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Solitary pancreatic metastasis of occult pulmonary small cell carcinoma diagnosed by EUS-FNA cytology: a case report

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):514-518. eCollection 2021.

ABSTRACT

A 74-year-old man presented with symptoms suggestive of acute pancreatitis, and a mass lesion measuring 25 mm was detected in the pancreatic head. Cytological and histopathological examinations of EUS-FNA specimens taken from the lesion demonstrated small cell (neuroendocrine) carcinoma. Tumor cells were immunoreactive for cytokeratin, synaptophysin, chromogranin A, CD56, and TTF-1, and PET-CT of the chest revealed a small tumor in the upper lobe of the left lung. Pulmonary carcinoma, particularly small cell carcinoma, infrequently presents with a solitary metastatic lesion in the pancreas as an initial manifestation and clinically simulates a primary pancreatic neoplasm. Because primary small cell carcinoma of the pancreas is very uncommon, metastasis from the lung should always be considered when evaluating pancreatic neoplasms showing a "small cell" morphol ogy. Immunohistochemistry for TTF-1 is useful for determining the pulmonary origin of this type of neoplasm, and its application to cytology specimens is recommended.

PMID:33936375 | PMC:PMC8085835

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Follicular dendritic cell sarcoma of the tonsil: case report and review of literature

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):493-500. eCollection 2021.

ABSTRACT

OBJECTIVE: To explore the clinicopathologic features, immunophenotype, differential diagnosis, and prognosis of tonsil follicular dendritic cell sarcoma (FDCS).

METHODS: In the Department of Pathology, the affiliated Yantai Yuhuangding Hospital of Qingdao University, in 2019, a case of tonsil FDCS was diagnosed and retrospectively analyzed to summarize its clinical and pathologic characteristics. Relevant literature was reviewed.

RESULTS: The patient was a 71-year-old man. The tumor occurred in the right tonsil with a maximum diameter of 3.5 cm. Microscopically, the tumor cells were spindle-shaped or oval-shaped, arranged in bundles or swirls, and some areas formed concentric circles around blood vessels. Small lymphocytes were distributed in the background. The nucleus was oval-shaped or round, with nuclear chromatin and small central nucleoli. Mi toses were up to 5/10 HPF at the highest. Immunohistochemistry showed positive expression of CD21, CD23, CD68, vimentin, and D2-40 in tumor cells, and Ki67 proliferation index was about 20%. CXCL13 was positive only in scattered background lymphocytes. In situ hybridization for EBER was negative. After surgical resection of the tumor, without radiotherapy or chemotherapy, the patient has been followed up for 4 months until now, without recurrence or metastasis.

CONCLUSION: FDCS is a rare tumor, especially in extranodal sites. The pathogenesis, treatment and prognosis of FDCS still need further exploration.

PMID:33936372 | PMC:PMC8085827

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Intravascular fasciitis of the hip joint in a postpartum female: misdiagnosed as low grade fibromyxoid sarcoma

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):519-525. eCollection 2021.

ABSTRACT

Intravascular fasciitis is a special type of nodular fasciitis. It is an uncommon lesion. We report here the first case of intravascular fasciitis involving the deep muscle of the hip joint. The female, postpartum patient presented with a large, firm, painless tumoral mass in the anterolateral muscles of the right hip. The diagnosis of intravascular fasciitis was difficult because of the large size and location of the lesion. The false positive immunohistochemistry for MUC4 initially caused our team to misdiagnose the intravascular fasciitis as a low grade malignant fibromyxoid sarcoma. Our case adds to the literature on intravascular fasciitis. Since the operation about 20 months prior, the tumor in this case has not recurred.

PMID:33936376 | PMC:PMC8085820

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Refractory multiple myeloma with extramedullary plasmacytoma of the spleen and suspicious teratoma: a rare case report and literature review

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):455-462. eCollection 2021.

ABSTRACT

Multiple myeloma (MM) is a type of malignant disease that is characterized by a clonal proliferation of plasma cells within the bone marrow. Relapsed and refractory multiple myeloma (RRMM) is a subtype of MM that is unreactive to salvage therapy and progresses during treatment or within 60 days of the last therapy in patients who achieved a minimal response before progression of disease. This usually results in a poor prognosis. Extramedullary plasmacytoma (EMP) occurs when MM occasionally develops in tissues other than bones marrow. To the best of our knowledge, case studies of the presence of EMPs in the spleen have rarely been reported. Teratoma is a type of congenital tumor that consists of tissue that arises from pluripotent embryonic cells. Here we report a case of refractory immunoglobulin G (IgG) MM with both splenic plasmacytomas and a suspicious tera toma. To investigate the clinical and treatment features of patients under similar conditions, we also reviewed the available literature supporting the useful information in the pathogenesis, diagnosis and treatment of RRMM with EMP.

PMID:33936367 | PMC:PMC8085831

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Pediatric follicular bronchiolitis with severe atelectasis: a case report

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):526-532. eCollection 2021.

ABSTRACT

Follicular bronchiolitis is a rare pulmonary disorder characterized by the presence of multiple hyperplastic lymphoid follicles with a peribronchiolar distribution. An 11-year-old girl with total atelectasis of the right middle lobe (RML) and diffuse multiple small nodules at both lung bases presented to our hospital with frequent upper respiratory infections and pneumonia. The disease progressed during a 3-month period of macrolide therapy, and thoracoscopic biopsy with lobectomy of the atelectatic RML was performed. The histopathologic diagnosis was follicular bronchiolitis. The patient's pulmonary function improved dramatically after oral steroid treatment. It can be difficult to diagnose follicular bronchiolitis based solely on clinical, laboratory, and radiologic findings; the disorder must be confirmed histopathologically. A patient with longstanding irr eversible atelectasis and resulting recurrent respiratory infection may require lobectomy for the diagnosis and treatment of follicular bronchiolitis.

PMID:33936377 | PMC:PMC8085817

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EphA2 as a new target for breast cancer and its potential clinical application

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):484-492. eCollection 2021.

ABSTRACT

PURPOSE: The aim of this research was to study the expression of EphA2 to assess its suitability as a new breast cancer target.

METHODS: Immunohistochemistry (IHC) was used to detect EphA2 protein expression in pathology tissue samples from 250 cases of breast cancer, and the expression of EphA2 mRNA was detected by in situ hybridization (ISH). Breast cancer cells were isolated and cultured. The expression of EphA2 in the cells was detected by the indirect immunofluorescence assay (IFA), and the expression of EphA2 in breast cancer was analysed.

RESULTS: EphA2 protein and mRNA were mainly expressed in tumor cells and vascular endothelial cells. EphA2 protein was expressed in 187 cases, with a positive rate of 74.80%, whereas EphA2 mRNA was expressed in 209 cases, with a positive rate of 83.60%. EphA2 protein and mRNA expression were correlated with lymph node metastasis, clinical stage, and breast cancer histologic grade (P<0.05). In addition, the positive expression rates of EphA2 protein and EphA2 mRNA were correlated (P<0.05). EphA2 was barely expressed in normal breast cells but highly expressed in breast cancer cells.

CONCLUSION: EphA2 is highly expressed in breast cancer tissues and has the potential to be a new breast cancer target, providing a preliminary basis for the development of new targeted drugs for breast cancer and the construction of fluorescent-targeted tracers for fluorescence-guided mastoscopic breast-conserving surgery.

PMID:33936371 | PMC:PMC8085825

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Castleman's disease of the left parotid gland: a case report

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Int J Clin Exp Pathol. 2021 Apr 15;14(4):533-537. eCollection 2021.

ABSTRACT

Castleman's disease is a very rare heterogeneous group of lymphoproliferative disorders characterized by non-neoplastic growths. It is unknown about the pathophysiology of the Castleman's disease. Previous studies demonstrated that Castleman's disease can be divided into two groups according to clinical classification, including unicentric Castleman disease (UCD) and multicentric Castleman disease (MCD). The hyaline vascular type is most common in the head and neck, and is abbreviated as UCD. In the present case, a woman complained that a mass in her parotid gland was growing and it was painless seven months ago. The computed tomography (CT) showed that the superficial lobe of the parotid gland on the left had an elliptical soft tissue density shadow, about 2.5×3.5 cm, with clear boundaries and no obvious abnormalities in the surrounding bone. The CT scan sho wed no obvious abnormalities in the shape and density of the right parotid and bilateral submandibular glands. After the operation, combined with the results of immunohistochemistry, the final diagnosis was Castleman tumor. The patient recovered smoothly, after the operation and during follow-up. The patient maintained good health without recurrence or metastasis.

PMID:33936378 | PMC:PMC8085830

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