clinicopathological findings
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2022 ◽  
Vol 12 (1) ◽  
pp. 113
Author(s):  
Jia Hwang ◽  
Heeeun Kim ◽  
Jinseon Han ◽  
Jieun Lee ◽  
Sunghoo Hong ◽  
...  

Purpose: Although mutations are associated with carcinogenesis, little is known about survival-specific genes in clear cell renal cell carcinoma (ccRCC). We developed a customized next-generation sequencing (NGS) gene panel with 156 genes. The purpose of this study was to investigate whether the survival-specific genes we found were present in Korean ccRCC patients, and their association with clinicopathological findings. Materials and Methods: DNA was extracted from the formalin-fixed, paraffin-embedded tissue of 22 ccRCC patients. NGS was performed using our survival-specific gene panel with an Illumina MiSeq. We analyzed NGS data and the correlations between mutations and clinicopathological findings and also compared them with data from the Cancer Genome Atlas-Kidney Renal Clear Cell Carcinoma (TCGA-KIRC) and Renal Cell Cancer-European Union (RECA-EU). Results: We found a total of 100 mutations in 37 of the 156 genes (23.7%) in 22 ccRCC patients. Of the 37 mutated genes, 11 were identified as clinicopathologically significant. Six were novel survival-specific genes (ADAMTS10, CARD6, NLRP2, OBSCN, SECISBP2L, and USP40), and five were top-ranked mutated genes (AKAP9, ARID1A, BAP1, KDM5C, and SETD2). Only CARD6 was validated as an overall survival-specific gene in this Korean study (p = 0.04, r = −0.441), TCGA-KIRC cohort (p = 0.0003), RECA-EU (p = 0.0005). The 10 remaining gene mutations were associated with clinicopathological findings; disease-free survival, mortality, nuclear grade, sarcomatoid component, N-stage, sex, and tumor size. Conclusions: We discovered 11 survival-specific genes in ccRCC using data from TCGA-KIRC, RECA-EU, and Korean patients. We are the first to find a correlation between CARD6 and overall survival in ccRCC. The 11 genes, including CARD6, NLRP2, OBSCN, and USP40, could be useful diagnostic, prognostic, and therapeutic markers in ccRCC.


2022 ◽  
Vol 19 (2) ◽  
Author(s):  
M. Mostaree ◽  
N. Sultana ◽  
M. I slam

Background Newcastle disease (ND) is a contagious and often deadly viral disease caused by the Newcastle disease virus (NDV), affecting a wide variety of domestic and wild birds. The outbreak of this fatal disease is one of the greatest constraints to the expansion of poultry farms, resulting in significant financial losses. Here we report the clinical and pathological features of a ND case from an outbreak in a commercial broiler farm. Materials and Methods A broiler farm with a population of 850 birds aged 27 days reported the death of 100 chickens within 4 days of the onset of the disease in 2019. For investigation, one dead chicken was brought to the department of pathology, Bangladesh Agricultural University, Mymensingh. The case history was recorded, and an autopsy was performed. Portion of the samples were kept in 10% neutral buffered formalin for histopathological study. Results The morbidity and mortality rates were reported to be 17.65% and 11.47%, respectively. Recorded clinical history were depression, off-feed, huddling, gasping, ruffled feathers, greenish diarrhea, soiled vent and the birds were unvaccinated. On external examination, the birds appeared dehydrated, dyspneic and had nasal exudates, ruffled feathers, and soiled vents. Autopsy exhibited prominent gross lesions in the trachea, lungs, proventriculus, gizzard, intestine, cecal tonsil, liver, spleen and cloacal bursa. Grossly, tracheal hemorrhage, severe congestion in the lungs, pin point hemorrhages on the tip of the proventriculur glands, hemorrhage in the cecal tonsil, button-like ulceration in the intestine and mottled spleen were suggestive of ND. Histopathologically, severe enteritis, necrotic mass in the cecal tonsil and proventriculus, lymphoid depletion in the spleen supported the infection of NDV. The clinicopathological findings of the ND outbreak in broiler farm confirmed that it was velogenic viscerotropic in nature. Conclusion ND in commercial flocks remains a threat to the poultry industry in Bangladesh. Implementation of strict biosecurity, husbandry practice and effective vaccination are required to prevent diseases and improve economic stability.


BMC Neurology ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Mika Hayakawa ◽  
Tomoyasu Matsubara ◽  
Yoko Mochizuki ◽  
Chisen Takeuchi ◽  
Motoyuki Minamitani ◽  
...  

Abstract Background The detailed neuropathological features of patients with autosomal recessive hereditary spastic paraplegia with a thin corpus callosum (TCC) and SPG11 mutations are poorly understood, as only a few autopsies have been reported. Herein, we describe the clinicopathological findings of a patient with this disease who received long-term care at our medical facility. Case presentation A Japanese man exhibited a mild developmental delay in early childhood and intellectual disability, followed by the appearance of a spastic gait by age 13. At the age of 25 years, he became bedridden and needed a ventilator. Genetic analysis revealed a homozygous splice site variant in the SPG11 gene (c. 4162–2A > G) after the provision of genetic counselling and acquisition of informed consent from his parents. He died of pneumonia at the age of 44. His brain weighed 967 g and was characterized by a TCC, and his spinal cord was flattened. Microscopically, degeneration was observed in the posterior spinocerebellar tract, the gracile fasciculus, and the posterior column in addition to the corticospinal tract. Marked neuronal loss and gliosis were observed in the anterior horn, Clarke’s column, and hypoglossal and facial nuclei. Various types of neurons, in addition to motor neurons, showed coarse eosinophilic granules that were immunoreactive for p62. The loss of pigmented neurons with gliosis was apparent in both the substantia nigra and locus coeruleus. Lateral geniculate body degeneration was a characteristic feature of this patient. Furthermore, peripheral Lewy body-related α-synucleinopathy and scattered α-synuclein–immunoreactive neurites in the locus coeruleus and reticular formation of the brainstem were observed. Conclusions In patients with hereditary spastic paraplegia with SPG11 mutations, a variety of clinical phenotypes develop due to widespread lesions containing p62-immunoreactive neuronal cytoplasmic inclusions. We herein report the lateral geniculate body as another degenerative site related to SPG11-related pathologies that should be studied in future investigations.


2021 ◽  
Author(s):  
Lin Han ◽  
Yanjun Sun ◽  
Dengqun Sun

Abstract Background: The long non-coding RNA (lncRNA)) PCAT6 has been studied in many cancers, yet its relationship with colorectal cancer (CRC) remains poorly defined. Here, we conducted an analysis of The Cancer Genome Atlas (TCGA) database to better clarify the role of PCAT6 in this cancer type.Materials and Methods: Wilcoxon rank-sum tests were utilized to assess relative levels of PCAT6 in CRC tumors and normal tissues, while logistic regression analyses were utilized to compare the relationships between PCAT6 levels and clinicopathological findings. Kaplan-Meier curves and Cox regression analyses were used to gauge correlations between PCAT6 and patient survival outcomes, while the biological roles of this lncRNA were investigated via a gene set enrichment analysis (GSEA) approach.Results: PCAT6 levels were significantly correlated with CRC patient N stage (OR = 1.8 for N1&N2 vs. N0), lymphatic invasion (OR = 1.9 for Yes vs. No), M stage (OR = 2.1 for M1 vs. M0), CEA level (OR = 1.9 for >5 vs. ≤5), perineural invasion (OR = 1.9 for Yes vs. No), pathologic stage (OR = 1.9 for Stage IIIIV vs. Stage I/II), and neoplasm type (OR = 2.1 for rectal adenocarcinoma vs. colon adenocarcinoma) (all P < 0.05). CRC patients expressing higher PCAT6 levels exhibited poorer survival outcomes than those expressing low levels of this lncRNA (P = 0.017), and in univariate analyses, higher PCAT6 levels were linked to worse overall survival (OS) (HR = 1.540; 95% CI: 1.079-2.1997; P = 0.017), with this relationship also being preserved in a multivariate analysis (HR = 6.892; 95% CI: 1.713-27.727, P = 0.007). GSEA revealed high PCAT6 expression to be linked to differential DNA methylation enrichment, with high PCAT6 levels being associated with changes in base excision repair, cellular senescence, G2 M DNA damage checkpoint, chromatin-modifying enzyme, and gene silencing by RNA activity. Conclusions: PCAT6 represents a promising prognostic biomarker of poor CRC patient survival outcomes, with DNA methylation and RNA-mediated gene silencing being potentially promising mechanistic pathways whereby this lncRNA may shape patient outcomes.


Cancers ◽  
2021 ◽  
Vol 13 (20) ◽  
pp. 5150
Author(s):  
Soichiro Shimura ◽  
Kazumasa Matsumoto ◽  
Yuriko Shimizu ◽  
Kohei Mochizuki ◽  
Yutaka Shiono ◽  
...  

Tumor markers that can be detected at an early stage are needed. Here, we evaluated the epiplakin expression levels in sera from patients with bladder cancer (BC). Using a micro-dot blot array, we evaluated epiplakin expression levels in 60 patients with BC, 20 patients with stone disease, and 28 healthy volunteers. The area under the curve (AUC) and best cut-off point were calculated using receiver-operating characteristic (ROC) analysis. Serum epiplakin levels were significantly higher in patients with BC than in those with stone disease (p = 0.0013) and in healthy volunteers (p < 0.0001). The AUC-ROC level for BC was 0.78 (95% confidence interval (CI) = 0.69–0.87). Using a cut-off point of 873, epiplakin expression levels exhibited 68.3% sensitivity and 79.2% specificity for BC. However, the serum epiplakin levels did not significantly differ by sex, age, pathological stage and grade, or urine cytology. We performed immunohistochemical staining using the same antibody on another cohort of 127 patients who underwent radical cystectomy. Univariate and multivariate analysis results showed no significant differences between epiplakin expression, clinicopathological findings, and patient prognoses. Our results showed that serum epiplakin might be a potential serodiagnostic biomarker in patients with BC.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Joo-Young Na ◽  
Soo-Hong Kim ◽  
Narae Lee

Abstract Background Only 10 cases of cecal epidermoid cyst (CEC) have been reported in the literature. Furthermore, its pathogenesis remains unclear. We report a rare case of congenital CEC in neonate, and discuss its clinicopathological findings. Case presentation A cystic lesion was incidentally identified in the retroperitoneal area of the abdominal right lower quadrant during a routine prenatal ultrasonography (US), prompting an ileocolectomy 3 days after birth. This congenital cyst was composed of mucosal lining cells and submucosal connective tissues, and the inner lining mucosa was composed of stratified squamous epithelium and focally mucin-producing ciliated epithelium. Based on the macroscopic and microscopic findings, the cystic lesion was diagnosed as a congenital cecal epidermoid cyst. Conclusions The management of a fetal abdominal mass should be tailored individually, considering that epidermoid cysts can occur in the cecum during the perinatal period. We report the clinicopathological findings in this case, including its possible pathogenesis.


Author(s):  
Betul Ogut ◽  
Ferah Kazanci ◽  
Dilek Yapar ◽  
Özlem Erdem ◽  
M.Anil Onan

OBJECTIVE: Mature cystic teratoma, also known as a dermoid cyst, is the most common germ cell tumor of the ovary. In this retrospective study, it is aimed to evaluate clinicopathological findings of the patients who were operated on due to the preliminary diagnosis of dermoid cyst. STUDY DESIGN: Between May 2013 and May 2018, the findings of a total of 143 patients who were operated on with a preliminary diagnosis of dermoid cyst in our institution were analyzed retrospectively. In addition to demographic characteristics such as age, parity number and tumor size, lateralization, preoperative tumor markers, surgical procedure, presence of other pathological findings, and the rate of malignant transformation were analyzed. RESULTS: The median age of patients was 35.4 years and the ratio of nulliparous, primiparous, and multiparous patients was 46.9%, 25.2%, and 28%, respectively. The median tumor diameter was 6.7 cm, 50.3% of which were right-sided, 46.9% were left-sided and the remaining 2.8% were bilateral. Intraoperative torsion was found in 15 (10.5%) cases. The treatment consisted of 60.1% cystectomy by laparoscopy, 3.5% unilateral salpingo-oophorectomy by laparoscopy, 9.8% unilateral salpingo-oophorectomy by laparotomy, while the rate of 16.1% cases underwent hysterectomy with bilateral salpingo-oophorectomy by laparotomy, 10.5% of the cases, cysts were excised during cesarean section. As the final pathology report revealed, of 143 patients, immature teratoma was observed in five cases (3.5%), in one of them (0.7%) mixed germ cell tumor and in three of them (2.1%) borderline mucinous cancer, squamous cell carcinoma, and carcinoid tumor on mature cystic teratoma base were observed. CONCLUSION: Torsion is the most common complication with mature cystic teratoma. The size of the tumor is an important prognostic factor in terms of the malignant transformation of teratoma. Fertility sparing surgery with a minimally invasive surgical approach is available for fertility patients diagnosed with Mature cystic teratoma.


Animals ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 2406
Author(s):  
Juliana Moreira Rozolen ◽  
Tamires Goneli Wichert Teodoro ◽  
Renata Afonso Sobral ◽  
Felipe Augusto Ruiz Sueiro ◽  
Renee Laufer-Amorim ◽  
...  

Splenic hemangiosarcoma (HSA) is a malignant tumor of endothelial cells that affects middle-aged and elderly dogs and is characterized by the formation of new blood vessels, commonly associated with necrotic and hemorrhagic areas. Despite its importance in veterinary medicine, few studies have identified markers with prognostic value for canine HSA. Thus, this study aimed to associate the clinicopathological findings (prostate-specific membrane antigen [PSMA], Claudin-5, and Ki67 gene and protein expression) with overall survival in HSA-affected patients. Fifty-three formalin-fixed and paraffin-embedded canine splenic HSA samples, previously diagnosed by histopathological examination, were used in this study. Claudin-5, PSMA, and Ki67 protein expression levels were evaluated by immunohistochemistry, and gene expression was evaluated by quantitative polymerase chain reaction. Claudin-5 protein overexpression was observed in patients with metastasis (p = 0.0078) and with stage III tumors compared to those with stage I and II tumors (p = 0.0451). In patients treated with surgery alone, low PSMA gene and protein expression (p = 0.05 and p = 0.0355, respectively) were associated with longer survival time. Longer survival time was observed in patients with a low Ki67 index (p = 0.0488). Our results indicate that Claudin-5 protein expression is associated with metastatic status, and PSMA gene and protein expression, and Ki67 index are associated with survival time.


2021 ◽  
pp. 293-294
Author(s):  
Andrew Hart

Compression neuropathy is the commonest form of peripheral nerve injury and refers to the symptoms and clinicopathological findings that arise when a peripheral nerve is subjected to acute or chronic external compression or impingement of sufficient magnitude to impair its microcirculation. As aerobic glycolysis fails, membrane potential regulation is impaired, and action potential transmission fails. The differential susceptibility of the various fibre types, which subserve different functions, results in a typical progression of symptoms from impaired fine touch and proprioception, through paraesthesia, to poorly localized pain. If compression persists, then secondary intraneural and vascular anatomical changes establish a downward spiral of worsening intraneural oedema and fibrosis, axonotmesis, and denervation atrophy of target muscles. The condition becomes refractory to decompression. The impact on the patient depends upon the severity of neuropathy, and the nerve affected. A small number of anatomical sites particularly predispose to compression (e.g. the carpal tunnel), resulting in the common clinical syndromes.


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