45 research outputs found
MED12 Exon 2 Mutations in Uterine Leiomyoma's in Women Patients of Tehran Province of Iran
No full textMED12 Exon 2 Mutations in Uterine Leiomyoma's in Women Patients of Tehran Province of Iran
Authors: Azadeh Rakhshan, Ali-Reza Ahmadi, Hajar Porrahim, Hajar Moghadasi, Naimeh Najafi
Publication date: 2015/12/1
Journal: Journal of Pharmaceutical Sciences and Research
Abstract:
Uterine leiomyomas or fibroids are benign smooth muscle tumors of myometrial origin; frequently found in reproductive age women. Uterine leiomyomas commonly cause significant symptoms such as anemia resulting from heavy irregular uterine bleeding, Pelvic discomfort, and bowel/bladder dysfunction from pressure. Fibroids have also been associated with infertility and recurrent abortion. Somatic mutations in MED12 exon 2 have recently been reported in uterine leiomyomas. The aim of our study was to see whether MED12 exon 2 mutations occur in uterine leiomyomas of women patients of Tehran Province of Iran. Mutations in exon 2 of the MED12 gene have been reported in 50% to 70% of uterine leiomyomas. To determine the frequency of MED12 mutations in various types of smooth muscle tumors as well as normal uterine myometrium adjacent to a leiomyoma, we selected a total of 23 cases for analysis of MED12 exon 2 mutations by polymerase chain reaction and Sanger sequencing. We found that 65℅ of classical uterine leiomyomas harbored mutations in exon 2 of the MED12 gene. Twelve of these mutations were located in codon 44 (c.130-132). In addition, one fibroids 0/43% displayed a missense mutation in codon 36 (c.107).We also observed two (0/86) exonic deletion type.
Keywords: Uterine Leiomyoma's, MED12 Exon 2, Mutation, fibroid, tumor
Effects of blood and saliva contamination on shear bond strength of metal orthodontic brackets and evaluating certain methods for reversing the effect of contamination
No full textCD34 negative superficial acral fibromyxoma: A rare case report
No full textSuperficial acral fibromyxoma (SAF) is a slow growing soft tissue tumor that mainly appears in the acral areas. Here, we report a case of a SAF with distinctive immunophenotype charachteristics. An 18-year-old female was referred to our clinic with the complaint of painless subungual nodule of great toe for a few months. The diagnosis of SAF was made according to histopathology and immunohistochemical (IHC) study, however, the IHC assessment showed positive staining with vimentin, focal reaction with smooth muscle actin, negative reaction with CD34, and positive staining pattern with CD99. These IHC findings are unusual for SAF. This reported case of SAF supports the fact that, although CD34 expression is characteristic for SAF, it is not always present
Primary Signet-Ring Cell Carcinoma of the Urinary Bladder Successfully Managed with Radical Cystectomy in a Young Patient
No full textPrimary signet-ring cell adenocarcinoma of bladder is a rare neoplasm, usually seen in middle age adults. We report the case of an 18-year-old man who presented with intermittent gross hematuria. Computed tomography imaging showed multifilling defects in the bladder. The patient underwent a transurethral resection of the bladder tumor. Histological findings were consistent with poorly differentiated mixed mucinous and signet-ring cell adenocarcinoma. We ruled out other possible origins of tumor by gastrointestinal endoscopy and colonoscopy. The patient was treated with radical cystectomy with prostate and seminal vesicle sparing technique and orthotopic diversion using “W” ileum pouch with pelvic lymphadenectomy to the bifurcation of the aorta was done. Six-month follow-up of patient showed normal conditions without metastatic spread or any recurrence
Primary cutaneous synovial sarcoma: An extremely rare report of superficial synovial sarcoma
No full textSynovial sarcoma is a type of malignancy which usually occurs near the joints of the arm, neck, or leg. It is a sarcoma of soft tissue and accounts for 5-10% of all adult soft tissue sarcomas in the world. We present a case with primary superficial cutaneous synovial sarcoma without involvement of the underlying knee joint. It is a very rare condition, and to the best of our knowledge, it is the second report of this topic. Although it is rare among soft tissue tumors, the dermatologists should have precise attention to this skin tumor, as early diagnosis is associated with lower metastatic rate and therefore better prognosis
Generalized lichen planus pigmentosus and a new management approach
No full textKey Clinical Message Generalized lichen planus pigmentosus significantly improved with the daily administration of Tofacitinib at a dosage of 15 mg
SARS‐CoV‐2 infection as a potential triggering factor for urticarial vasculitis during pregnancy: A case report
No full textAbstract During the COVID‐19 pandemic, physicians must maintain a high index of suspicion for COVID‐19 in cases of urticarial vasculitis or other forms of urticaria. This is particularly important for acute presentations in otherwise asymptomatic individuals and pregnant women, where a prompt approach to the patient can prevent undesirable complications
The eminent roles of ncRNAs in the pathogenesis of psoriasis
No full textPsoriasis is a chronic immune-related disorder in which both genetic and environmental parameters are involved. Recent studies have demonstrated dysregulation of long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) in the peripheral blood or skin lesions of patients with psoriasis. While a number of lncRNAs such as MEG3, AL162231.4 and NONHSAT044111 have been down-regulated in the course of psoriasis, others including PRINS, MIR31HG, RP6‐65G23.1, MSX2P1, SLC6A14-1:1, NR_003062 have been up-regulated. Moreover, expressions of several miRNAs have been dysregulated in this disorder. Among dysregulated miRNAs are miR-126, miR-143, miR-19a and miR-155 whose diagnostic roles in the psoriasis have also been assessed. Dysregulated non-coding RNAs in this disorder participate in the regulation of chemokine signaling pathway and immune response, control of epidermal development and skin barrier as well as modulation of function of certain subsets of T cells. Besides, these transcripts possibly regulate activity of NF-κΒ, mTOR, MAPK and JAK-STAT signaling pathways. Besides, expression levels of circRNAs have been decreased in the psoriasis lesions. Massive alterations in the levels of lncRNAs and miRNAs in the psoriasis lesions or peripheral blood of affected individuals show participation of these transcripts in the pathogenesis of this disorder
