myxoid degeneration

粘液样变性
  • 文章类型: Case Reports
    子宫肌瘤变性是怀孕期间腹痛的罕见原因。它会在怀孕期间引起并发症,包括胎盘早剥,胎儿生长受限,和早产。粘液样变性是纤维瘤变性的不寻常形式。我们介绍了一个38岁女性的案例,G1P0,在妊娠13周时,由于腹痛和阑尾炎的担忧,应产科医生的要求到急诊科就诊。诊断为粘液样变性。患者接受了镇痛药治疗,出院后继续在门诊治疗。
    Uterine fibroid degeneration is a rare cause of abdominal pain during pregnancy. It can cause complications during pregnancy, including placental abruption, fetal growth restriction, and preterm delivery. Myxoid degeneration is an unusual form of fibroid degeneration. We present a case of a 38-year-old female, G1P0, who presented at 13 weeks gestation to the emergency department at the request of her obstetrician due to abdominal pain with concern about appendicitis. A diagnosis of myxoid degeneration was made. The patient was treated with analgesics and discharged to continue her management in the outpatient setting.
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    文章类型: Journal Article
    目的:原发性颅内粘液乳头状室管膜瘤(MPE)非常罕见。为了确定颅内MPE的基因组变化,我们通过下一代DNA测序分析了其突变模式。
    方法:使用离子质子仪器上的离子PIv3芯片对肿瘤DNA进行测序,并通过离子报告5.6分析数据。
    结果:在该肿瘤中,NGS使用IonPIv3芯片生成6,298,354个映射读段。每个扩增子的平均读段为29,365,100%的扩增子具有至少500个读段,并且扩增子端到端读段为97.58%。在这个肿瘤中,NGS数据分析确定了12种变体,其中两个是错义突变,7个是同义突变,3个是内含子变异.错义突变c.395G>A;在IDH1基因的外显子4中,并且在c.215C>G中出现错义突变;在TP53基因的外显子4中发现了这种肿瘤。在这种肿瘤中发现的已知同义突变是,在c.1953G>A的FGFR3外显子14中;在c.1701A>G的PDGFRA外显子12中;在PDGFRAc.2472C>T的外显子18中;在c.2361G>A的EGFR外显子20中;在c.2107G>T的RET外显子13中;在c.4479G>A的APC的外显子16中;以及在c.345345此外,在KDR中鉴定出一个已知的内含子变异体,在FLT3中鉴定出一个已知的受体位点剪接变异体(rs2491231),并在CSF1R基因的3'-UTR中鉴定出一个SNP(rs2066934).除了,IDH1变异的频率,其他变体的频率很高,所有这些突变的p值都很显著,Phred评分都很高.
    结论:之前通过NGS分析未在粘液毛细血管I级室管膜瘤中检测到该肿瘤中报告的变异,因此我们首次在该病例中报告了这些变异。
    OBJECTIVE: Primary intracranial myxopapillary ependymomas (MPE) are very rare. In order to determine genomic changes in an intracranial MPE, we analyzed its mutation patterns by next generation DNA sequencing.
    METHODS: Tumor DNA was sequenced using an Ion PI v3 chip on Ion Proton instrument and the data were analyzed by Ion Reporter 5.6.
    RESULTS: In this tumor, NGS generated 6,298, 354 mapped reads using the Ion PI v3 Chip. The average reads per amplicon was 29,365, 100% of amplicons had at least 500 reads and the amplicons read end-to-end were 97.58%. In this tumor, NGS data analysis identified 12 variants, of which two were missense mutations, seven were synonymous mutations and three were intronic variants. Missense mutation in c.395G>A; in exon 4 of the IDH1 gene, and a missense mutation in c.215C>G; in exon 4 of the TP53 gene were found in this tumor were previously reported. The known synonymous mutations were found in this tumor were, in exon 14 of FGFR3 in c.1953G>A; in exon 12 of PDGFRA in c.1701A>G; in exon 18 of PDGFRA c.2472C>T; in exon 20 of EGFR in c.2361G>A; in exon 13 of RET in c.2307G>T; in exon 16 of APC in c.4479G>A; and in exon 2 of MET in c.534C>T. Additionally, a known intronic variant was identified in KDR and a known acceptor site splice variant in FLT3 (rs2491231) and a SNP in the 3 \' -UTR of the CSF1R gene (rs2066934) were also identified. Except, the frequency of IDH1 variant, the frequencies of other variants were high, and the p-values were significant and Phred scores were high for all of these mutations.
    CONCLUSIONS: The variants reported in this tumor have not been detected in myxopapillary grade I ependymoma tumor by NGS analysis previously and we therefore report these variants in this case for the first time.
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  • 文章类型: Case Reports
    Rectal prolapse is a disorder in which the rectum protrudes from the anal canal. Solitary rectal ulcer may coexist. Both conditions have been associated with chronic constipation and excessive straining during defecation. Rectal prolapse has been rarely reported in women suffering from anorexia nervosa. Lack of rectal support because of loss of ischiorectal fat has been proposed as one of the possible mechanisms in this condition, together with chronic constipation and abuse of laxative. We report the case of an anorexic woman with a severe rectal prolapse and bleeding requiring urgent Altmeier\'s procedure. Surgery was complicated by dehiscence of the anastomosis and volvulus, requiring ileostomy and laciniae debridement. Pathological analysis of all the surgical samples taken from different abdominal sites highlighted changes in the visceral adipose tissue consisting in nodular aggregates of small adipocytes dispersed in a myxoid matrix surrounding blood vessels within abundant fibrosis. The morphologic features resemble those observed in primordial fetal fat and are comparable to those observed in cancer associated cachexia. The diffuse myxoid degeneration of visceral adipose tissue may play a role in the pathogenesis of rectal prolapse in patients with anorexia nervosa. Besides starvation, the mechanism sustaining myxoid degeneration of the adipose tissue is not entirely clear. Whenever possible improving nutritional and clinical conditions should be ideal before any surgical approach.
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  • 文章类型: Journal Article
    This review describes numerous pathologic entities that cause structural abnormalities of the mitral valve. Different pathologic entities involve different components of the so-called mitral apparatus: atrial wall, annulus, leaflets, chordae, papillary muscles, and/or left ventricular free wall. These abnormalities can cause valvular stenosis, regurgitation, or both.
    Currently, in addition to open-chest surgery to replace or repair the damaged mitral valve, there are less invasive percutaneous approaches to address mitral valve dysfunction. These include narrowing the orifice, clipping the leaflets, and inserting bioprostheses percutaneously. Understanding the structural abnormalities discussed in this review is essential for choosing the optimal therapeutic intervention for mitral valve disease.
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  • 文章类型: Case Reports
    A 45-year-old multipara woman was referred due to the rapid enlargement of an asymptomatic pelvic mass that was detected during a regular check up. She had undergone laparoscopic-assisted myomectomy 15 years previously. At the time, the uncontained extraction of an intraligamental myoma with electric power morcellation had been performed. Multimodal imaging revealed a heterogeneous mass in the vesicouterine pouch that was found to be supplied by the left gastro-omental and superior vesical arteries. Although malignancy could not be completely denied, parasitic peritoneal myoma with myxoid degeneration was the most probable diagnosis. Single-port laparoscopic excision of the peritoneal mass was performed along with laparoscopic-assisted vaginal hysterectomy and bilateral salpingo-oophorectomy. The excised peritoneal mass was placed into a retrieval bag and extracted through the vagina. The pathological diagnosis was a parasitic peritoneal myoma with myxoid degeneration. The postoperative course was uneventful, and there was no recurrence of parasitic myoma in the 1-year follow up after surgery.
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  • 文章类型: Case Reports
    Oral focal mucinosis (OFM) is a rare connective tissue disorder characterized by myxoid degeneration of submucosal connective tissue. It usually presents as gingival or mucosal overgrowth. Due to its uncommon occurrence and lack of pathognomonic clinical or radiological features, diagnosis mainly relies on histopathological evaluation. The paper reports a rare case of large OFM in a 58-year-old female patient involving the posterior maxilla and hard palate. Diagnosis of the lesion was established based on histopathological and immunohistochemical analysis. The lesion was excised surgically and showed no recurrence at 1 year follow-up. The cases presented intend to bring OFM to the attention of oral pathologists and clinicians while considering the differential diagnosis of myxoid lesions of oral cavity.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    Reports describing a rapid increase in the cystic volume of anaplastic astrocytoma (AA) in a short time frame are rare. The present study reports the case of a 68-year-old male who was admitted to the No. 9 People\'s Hospital, Shanghai Jiaotong University School of Medicine (Shanghai, China), with a small cystic brain lesion and positive immunological testing for cysticercosis. Head magnetic resonance imaging (MRI) showed a cystic lesion, 6 mm in diameter, in the left frontal lobe. Neurocysticercosis was suspected and the patient was treated with a clinical trial of albendazole and steroids. A period of 25 days later, the patient\'s condition had deteriorated, and MRI revealed a cystic lesion in the left frontal lobe; thereafter, the cystic lesion was removed and a diagnosis of AA was established. The tumor was soft, ivory white and gelatinous due to myxoid degeneration. In this case, tumor-related angiogenesis and microvascular extravasation (blood-brain barrier disruption) may have been the main cause of the rapid increase in the cystic volume in such a short time frame. The similarity of the glioma and cysticercus antigens may have been the cause of the positive reactions in the cystic fluid. The present study reports the rare occurrence of a rapid increase of cystic volume and potential diagnostic difficulties.
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  • 文章类型: Case Reports
    输卵管平滑肌瘤非常罕见,通常无症状,但可能因扭转或阻塞而引起症状。在这里,我们描述了输卵管平滑肌瘤伴粘液样变性的详细影像学表现。输卵管平滑肌瘤是一种定义明确的子宫旁肿瘤,由低信号边缘与肿瘤和子宫之间的桥接血管相连。在T2加权图像上没有弥散限制的情况下,输卵管肿块显示出具有中间信号背景的异质斑点高信号,这可能表明输卵管平滑肌瘤伴mxoid变性的可能性。
    Leiomyomas from the fallopian tube are very rare and usually asymptomatic but may cause symptoms by torsion or obstruction. Herein, we describe the detailed imaging findings of tubal leiomyoma with myxoid degeneration. Tubal leiomyoma appeared as a well-defined juxtauterine tumor marginated by low-signal rims with intervening bridging vessels between the tumor and uterus. A tubal mass showing heterogeneous speckled high signals with intermediate signal background on T2-weighted image without diffusion restriction could suggest the probability of tubal leiomyoma with mxoid degeneration.
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