scholarly journals Multiple Mutations in Exon-2 of Med-12 Identified in Uterine Leiomyomata

2021 ◽  
Author(s):  
Ruqia Firdaus ◽  
Prabha Agrawal ◽  
Manjula Anagani ◽  
Kodati Vijayalakshmi ◽  
Qurratulain Hasan
Keyword(s):  
Progenitor Cell ◽  
Uterine Fibroids ◽  
Abnormal Uterine Bleeding ◽  
Genetic Alterations ◽  
Reproductive Age ◽  
Exon 2 ◽  
Uterine Leiomyomata ◽  
Smooth Muscle Tumors ◽  
Clonal Origin ◽  
Fibroid Growth

Background: Uterine leiomyomata (UL), commonly known as uterine fibroids, are benign smooth muscle tumors of the myometrium. They cause pelvic pain, abnormal uterine bleeding, and infertility in women of reproductive age. The ovarian hormone estrogen is the main stimulator for the fibroid growth. The etiology is not yet clearly understood; however, UL are believed to be monoclonal tumors arising from a common progenitor cell. Chromosomal cytogenetic abnormalities have been demonstrated in 40-50% of the fibroids. The most frequent tumor specific genetic alterations in UL were identified in exon-2 of Mediator Complex Subunit 12 (MED-12). Methods: In the present study, twenty-two multiple fibroids were evaluated both from the same uterus and from different uteri, of four women, for somatic mutations in hotspot region of MED-12. The tissue DNA of the UL's was isolated, amplified by PCR visualized on gel and sent for Sanger sequencing. Results: The results indicate several variants in exon-2 and flanking intronic regions, seven exonic variants and five intronic variants which provide evidence that multiple UL in the same uterus may not be clonal in origin. Conclusion: This study indicates genetic heterogeneity. UL may not have a clonal origin, these exon-2 variants of MED-12 gene could be involved in UL progression.

scholarly journals Demographic parameters of women with uterine fibroids presenting as abnormal uterine bleeding

2018 ◽  
Vol 7 (7) ◽  
pp. 2915
Author(s):  
Manjiri R. Podder ◽  
Rahul Podder ◽  
Poonam V. Shivkumar
Keyword(s):  
Uterine Fibroids ◽  
Abnormal Uterine Bleeding ◽  
Uterine Bleeding ◽  
Reproductive Age ◽  
Uterine Tumors ◽  
Perimenopausal Women ◽  
Diagnostic Modalities ◽  
Pelvic Pressure ◽  
Reproductive Age Group ◽  
Demographic Features

Background: Uterine fibroids are commonest benign uterine tumors. Only about 25% women with fibroids are symptomatic. Around 70-80% are discovered incidentally during routine pelvic examination. Using ultrasonography screening, some authors have estimated a cumulative incidence of 70% in all women by age 50. Symptoms attributable to fibroids are mainly abnormal uterine bleeding (AUB), pelvic pressure, pain, and reproductive dysfunction. Heavy and/or prolonged menses is the typical bleeding pattern with myomas. Uterine fibroids are a leading cause of hysterectomy in perimenopausal women, thus, this study was done to find out its prevalence and demography in women presenting with AUB. The objectives of the present investigation were to find out the prevalence of uterine fibroid in women with AUB and to find out the various demographic features of womenMethods: The study was done for 2 years in the Dept of Obstetrics and Gynecology of a rural tertiary institute after taking clearance from institutional ethical committee. All the women presenting with AUB were included in the study. History and demographic features was enquired and entered in a predesigned proforma. All women were clinically examined after consent. Women with suspicion of fibroid were subjected to diagnostic modalities and the reports were followed and correlated.Results: Total 11,841 patients came to Gynaeological OPD during the study period. Out of these 3,878 (32.75%) presented with AUB, 2,126 were diagnosed as having fibroids after examination and investigations. Hence, the prevalence of fibroids amongst the women with AUB was 54.82% and 17.95% amongst all gynaecological patients. Maximum women were between 31-40 years, (64.78% rural and 62.73% urban). Majority were having parity between 1-2 (40.73% in urban, 38.96% in rural).Conclusions: Uterine fibroids are the commonest reason of AUB in reproductive age group with the prevalence of 54.82%. The trends in age incidence have remained the same over the years, commonly affecting women in third decade. There is no difference in incidence of fibroids amongst various socioeconomic classes. 

Management of Uterine Fibroid in the Ayurvedic perspective - A Case Study

2018 ◽  
Vol 3 (5) ◽  
Author(s):  
Dr. Shruti G. Math ◽  
Dr. Padmasaritha K. ◽  
Dr. Ramesh M.
Keyword(s):  
Uterine Leiomyoma ◽  
Benign Tumor ◽  
Uterine Fibroids ◽  
Abnormal Uterine Bleeding ◽  
Reproductive Age ◽  
Unknown Etiology ◽  
Outpatient Departments ◽  
Pressure Symptom ◽  
Pelvic Pressure

Uterine fibroids are commonest benign tumor of the uterus. Histologically this tumor is composed of smooth muscle and fibrous connective tissue, so named as uterine leiomyoma, myoma or fibroma. The cause for some of the most common gynecological problems among women presenting to gynecology emergency and outpatient departments. They are often asymptomatic but they can cause a multitude of symptoms such as abnormal uterine bleeding, a feeling of pelvic pressure, urinary incontinence or retention, or pain. Uterine fibroids are a major cause of morbidity in women of a reproductive age (and sometimes even after menopause). There are several factors that are attributed to underlie the development and incidence of these common tumors, but this further corroborates their relatively unknown etiology. The most likely presentation of fibroids is by their effect on the woman’s menstrual cycle and pelvic pressure symptom.

scholarly journals Molecular and Cellular Insights into the Development of Uterine Fibroids

2021 ◽  
Vol 22 (16) ◽  
pp. 8483
Author(s):  
Alba Machado-Lopez ◽  
Carlos Simón ◽  
Aymara Mas
Keyword(s):  
High Throughput Sequencing ◽  
Disease Onset ◽  
Uterine Fibroids ◽  
Abnormal Uterine Bleeding ◽  
Health Impact ◽  
Current Data ◽  
Uterine Leiomyomas ◽  
Reproductive Age ◽  
Driver Mutations ◽  
Gynecologic Tumor

Uterine leiomyomas represent the most common benign gynecologic tumor. These hormone-dependent smooth-muscle formations occur with an estimated prevalence of ~70% among women of reproductive age and cause symptoms including pain, abnormal uterine bleeding, infertility, and recurrent abortion. Despite the prevalence and public health impact of uterine leiomyomas, available treatments remain limited. Among the potential causes of leiomyomas, early hormonal exposure during periods of development may result in developmental reprogramming via epigenetic changes that persist in adulthood, leading to disease onset or progression. Recent developments in unbiased high-throughput sequencing technology enable powerful approaches to detect driver mutations, yielding new insights into the genomic instability of leiomyomas. Current data also suggest that each leiomyoma originates from the clonal expansion of a single transformed somatic stem cell of the myometrium. In this review, we propose an integrated cellular and molecular view of the origins of leiomyomas, as well as paradigm-shifting studies that will lead to better understanding and the future development of non-surgical treatments for these highly frequent tumors.

Etiological structure and diagnosis of abnormal uterine bleeding

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (2) ◽  
pp. 14-17
Author(s):  
G E Chernukha ◽  
I A Ivanov ◽  
Z N Efendieva ◽  
M R Dumanovskaya ◽  
A V Asaturova
Keyword(s):  
Diagnostic Accuracy ◽  
Endometrial Hyperplasia ◽  
Ultrasound Examination ◽  
Abnormal Uterine Bleeding ◽  
Uterine Bleeding ◽  
Histological Diagnosis ◽  
Reproductive Age ◽  
Endometrial Polyps ◽  
Chronic Endometritis ◽  
Endometrial Pathology

Abnormal uterine bleeding (AUB) is one of the most common indications for hysteroscopy. Most of the AUB cases occur due to endometrial or myometrium pathology. Among it, endometrial polyps (EP) and chronic endometritis (CE) prevalent in reproductive age, while endometrial hyperplasia (EH) and EP dominate in perimenopause. It was determined that EP and CE are characterized with menorrhagia and metrorrhagia approximately equally, whereas EH reveals AUB with oligomenorrhoea. Verification of exact endometrial pathology by ultrasound examination is hindered, that results in deviations of ultrasound and histological diagnosis. The usage of ultrasound data and AUB’s characteristics may improve the diagnostic accuracy on preadmission period.

Possibilities and prospects of conservative therapy for endometriosis, as a chronical progressing disease (review of literature)

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Tatyana Yu. Pestrikova ◽  
Elena A. Yurasova ◽  
Igor V. Yurasov
Keyword(s):  
Quality Of Life ◽  
Abnormal Uterine Bleeding ◽  
Modern Medicine ◽  
Reproductive Age ◽  
Aim Analysis ◽  
Scientific Publications ◽  
Terra Incognita ◽  
Positive Effect

Relevance. Endometriosis is a common gynecological disease that affects up to 10% of women of reproductive age worldwide and is the main cause of pain and infertility. Endometriosis is a disease, although it has been known for a long time, nevertheless, in many ways it represents terra incognita for modern medicine. Aim. Analysis of literature on the feasibility of long-term and the use of the drug dienogest 2 mg (Vizanne), which has a positive effect on the quality of life of patients with endometriosis. Materials and methods. To write this review, a search was made for domestic and foreign publications in Russian and international search engines (PubMed, eLibrary, etc.) over the past 13 years. The review included articles from peer-reviewed literature. Results. The review presents data on the difficulties of verifying the diagnosis of endometriosis due to a combination of this pathology with pain, infertility, abnormal uterine bleeding. The pathogenesis of the origin of endometriosis-associated pain is presented. The efficacy of the use of the drug dienogest (Vizanne), which has a powerful antiproliferative effect that reduces the main symptoms of endometriosis (pain, bleeding), is substantiated. The expediency of long-term and safe use of the drug dienogest (Vizanne), which has a positive effect on the quality of life of patients with endometriosis, has been proved. Conclusions. Numerous scientific publications confirm the feasibility of prolonged use of the drug dienogest (Vizanne), to achieve remission during endometriosis.

CLINICAL CASE OF SUCCESSFUL TREATMENT OF INFERTILITY IN A PATIENT WITH FAILURE IVF RESULTS IN ANAMNESIS

2020 ◽  
pp. 61-67
Author(s):  
Kalinkina O.B. ◽  
Tezikov Yu.V. ◽  
Lipatov I.S. ◽  
Aravina O.R.
Keyword(s):  
Assisted Reproductive Technologies ◽  
Transvaginal Ultrasound ◽  
Clinical Manifestations ◽  
Reproductive Function ◽  
Abnormal Uterine Bleeding ◽  
Clinical Situation ◽  
Reproductive Technologies ◽  
Reproductive Age ◽  
Deficiency Anemia ◽  
Number Of Publications

Genital endometriosis is a disease of women of reproductive age, accompanied by infertility in 50% [1]. Adenomyosis can be considered as an endometriosis of the uterus. Histologically, this process is represented by ectopic, non-tumor endometrial glands, and stroma surrounded by hypertrophic and hyperplastic myometrium [2]. Adenomyosis is accompanied by pelvic pain of varying intensity as well as menstrual disorders [1]. The disease is accompanied by significant violations of reproductive function (infertility, unsuccessful attempts at pregnancy and miscarriage, abnormal uterine bleeding). Adenomyosis can be accompanied by a violation of the function of adjacent organs (such as the bladder, rectum). Often, one of the clinical manifestations of adenomyosis is the development of sideropenic syndrome, which is also caused by the development of chronic post-hemorrhagic iron deficiency anemia. This is accompanied by a deterioration in the general condition of patients, a decrease in their ability to work. Despite a large number of publications in Russian and foreign scientific sources devoted to this problem, reproductive doctors and obstetricians-gynecologists often underestimate the role of adenomyosis in pregnancy planning using assisted reproductive technologies. Without interpreting the anamnesis data obtained through an active survey, doctors do not prescribe additional methods for diagnosing this pathology, which is not complex and expensive. To confirm the diagnosis, a transvaginal ultrasound examination of the pelvic organs during the premenstrual period is sufficient. In cases that are difficult to diagnose, the MRI method of the corresponding anatomical area can be used. Underestimation of the clinical picture and under-examination of the patient did not allow prescribing timely correction of the pathology and led to unsuccessful attempts to implement the generative function using assisted reproductive technologies. The conducted examination with clarification of the cause of IVF failures and the prescribed reasonable treatment made it possible to achieve regression of endometriosis foci in this clinical situation, followed by the patient's ability to realize generative function.

scholarly journals Large cervical fibroid: a rare case report

2019 ◽  
Vol 8 (8) ◽  
pp. 3414
Author(s):  
Sunanda N.
Keyword(s):  
Uterine Fibroids ◽  
Total Abdominal Hysterectomy ◽  
Large Mass ◽  
Abdominal Hysterectomy ◽  
Reproductive Age ◽  
Pelvic Tumors ◽  
Rare Case Report ◽  
Tender Mass ◽  
Restricted Mobility ◽  
Reproductive Age Group

Although leiomyomas are the most common pelvic tumors presenting in the reproductive age group, cervical fibroids are rare accounting for 2% of all uterine fibroids. We report a case of 40 year old lady presenting with a firm, non-tender mass of 22-24 weeks size pregnant uterus with restricted mobility. Laparotomy showed a large mass arising from the anterior lip of cervix, with a small uterus pushed posteriorly. Enucleation followed by total abdominal hysterectomy was done. Large cervical fibroids are rare, presenting with surgical difficulties. Careful dissection by expert hands is needed in the management of such cases. 

Painless spontaneous haemoperitoneum secondary to a uterine leiomyoma/fibroid: unusual presentation of a life-threatening differential

2021 ◽  
Vol 14 (10) ◽  
pp. e243465
Author(s):  
Chiamaka Maduanusi ◽  
Sathiyaa Balachandran ◽  
Sahathevan Sathiyathasan ◽  
Kazal Omar
Keyword(s):  
Uterine Leiomyoma ◽  
Rare Complication ◽  
Abdominal Mass ◽  
Uterine Fibroids ◽  
Reproductive Age ◽  
Haemodynamic Instability ◽  
Hypovolaemic Shock ◽  
Important Differential Diagnosis ◽  
Life Threatening ◽  
Definitive Management

This is a case of a 47-year-old woman with a spontaneous haemoperitoneum secondary to uterine leiomyomas (fibroids), an important differential diagnosis in patients with uterine fibroids and hypovolaemic shock. Uterine fibroids are very common in women of reproductive age, yet little is taught about their potential to cause hypovolaemic shock. Although it is a rare complication, given the prevalence of fibroids, it is important to bear this life-threatening differential in mind to optimise the care for these women. Presentation typically involves abdominal pain, syncope, haemodynamic instability and an intra-abdominal mass. CT of the abdomen and pelvis can be helpful in identifying the source of the haemoperitoneum, but should not delay surgery, which is the definitive management.

scholarly journals Intrauterine Adhesions following Conservative Treatment of Uterine Fibroids

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Pietro Gambadauro ◽  
Johannes Gudmundsson ◽  
Rafael Torrejón
Keyword(s):  
Conservative Treatment ◽  
Current Knowledge ◽  
Uterine Fibroids ◽  
Reproductive Age ◽  
Surgical Trauma ◽  
Tumor Removal ◽  
Intrauterine Adhesions ◽  
Hysteroscopic Myomectomy ◽  
Uterine Arteries ◽  
Diagnostic Pitfalls

Uterine fibroids are common in women of reproductive age and various conservative treatments are available. In order to achieve a successful conservative treatment of fibroids, functional integrity of the uterus is as important as tumor removal or symptoms relief. In this context, intrauterine adhesions must be recognized as a possible complication of conservative management of uterine fibroids, but diagnostic pitfalls might justify an underestimation of their incidence. Hysteroscopic myomectomy can cause adhesions as a result of surgical trauma to the endometrium. The average reported incidence is around 10% at second-look hysteroscopy, but it is higher in certain conditions, such as the case of multiple, apposing fibroids. Transmural myomectomies also have the potential for adhesion, especially when combined with uterine ischemia. Uterine arteries embolization also carries a risk of intracavitary adhesions. Prevention strategies including bipolar resection, barrier gel or postoperative estradiol, might be useful, but stronger evidence is needed. In view of current knowledge, we would recommend a prevention strategy based on a combination of surgical trauma minimization and identification of high-risk cases. Early hysteroscopic diagnosis and lysis possibly represents the best means of secondary prevention and treatment of postoperative intrauterine adhesions.

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