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Cureus Aug 2021Factor V deficiency is a rare bleeding disorder, which may be due to acquired inhibitors or biallelic mutations. Factor V deficiency due to homozygous or compound...
Factor V deficiency is a rare bleeding disorder, which may be due to acquired inhibitors or biallelic mutations. Factor V deficiency due to homozygous or compound heterozygous mutation (also known as Owren's disease or parahemophilia) has an estimated prevalence of one in one million people. A 22-year-old female was admitted for evaluation of longstanding menorrhagia. Anatomic abnormalities were excluded, and prolonged prothrombin time (PT) and partial thromboplastin time (PTT) were identified. Mixing studies followed by specific factor assays and genetic testing enable identification of factor V deficiency, for which fresh frozen plasma (FFP) or factor V concentrates are therapeutic. Specific clotting factor assay followed by mixing studies and genetic studies is essential for the diagnosis of congenital factor V deficiency. Deranged PT and activated partial thromboplastin time (APTT) with normal factor I level must be evaluated for the disorder of clotting factors and must be managed by FFP administration or plasma-derived factor V concentrate wherever available.
PubMed: 34522525
DOI: 10.7759/cureus.17047 -
Experimental & Molecular Medicine Oct 2020Adenomyosis is defined as the presence of ectopic nests of endometrial glands and stroma within the myometrium. Adenomyosis is a common cause of dysmenorrhea,...
Adenomyosis is defined as the presence of ectopic nests of endometrial glands and stroma within the myometrium. Adenomyosis is a common cause of dysmenorrhea, menorrhagia, and chronic pelvic pain but is often underdiagnosed. Despite its prevalence and severity of symptoms, its pathogenesis and etiology are poorly understood. Our previous study showed that aberrant activation of β-catenin results in adenomyosis through epithelial-mesenchymal transition. Using transcriptomic and ChIP-seq analysis, we identified activation of TGF-β signaling in the uteri of mutant mice that expressed dominant stabilized β-catenin in the uterus. There was a strong positive correlation between β-catenin and TGF-β2 proteins in women with adenomyosis. Furthermore, treatment with pirfenidone, a TGF-β inhibitor, increased E-cadherin expression and reduced cell invasiveness in Ishikawa cells with nuclear β-catenin. Our results suggest that β-catenin activates TGF-β-induced epithelial-mesenchymal transition in adenomyosis. This finding describes the molecular pathogenesis of adenomyosis and the use of TGF-β as a potential therapeutic target for adenomyosis.
Topics: Adenomyosis; Animals; Binding Sites; Cadherins; Disease Models, Animal; Disease Susceptibility; Epithelial-Mesenchymal Transition; Fluorescent Antibody Technique; Gene Expression Regulation; Humans; Immunohistochemistry; Mice; Mice, Transgenic; Protein Binding; Transforming Growth Factor beta; beta Catenin
PubMed: 33060769
DOI: 10.1038/s12276-020-00514-6 -
Reproductive Medicine and Biology Oct 2021The study aims to identify the clinicopathological risk factors and magnetic resonance (MR) imaging findings for adenomyosis-related symptoms, including menorrhagia,...
PURPOSE
The study aims to identify the clinicopathological risk factors and magnetic resonance (MR) imaging findings for adenomyosis-related symptoms, including menorrhagia, dysmenorrhea, and infertility.
METHODS
This was an observation-based cross-sectional study using data from the adenomyosis cohort study. The authors evaluated the clinicopathological variables and various MR imaging findings.
RESULTS
Two hundred twenty patients with histologically confirmed adenomyosis were included in this study. Multivariate analysis showed that a middle/retroflexed uterus and adenomyosis lesions of 21 mm or more were significant independent predictors of dysmenorrhea. The history of dysmenorrhea and the maximum length from the cervix to the uterine fundus ≥103 mm were independent risk factors of menorrhagia. One of the key factors associated with non-infertility included the absence of deep infiltrating endometriosis (DIE) and/or superficial peritoneal disease (SUP).
CONCLUSIONS
This study identified clinicopathological risk factors and imaging findings associated with adenomyosis-related symptoms. The maximum length from the cervix to the uterine fundus and adenomyosis lesion thickness are independent predictors for the presence of menorrhagia and dysmenorrhea, respectively. Infertility may be associated with the coexistence of endometriosis rather than adenomyosis itself. This result is from an analysis of a small number of infertility patients and requires further study.
PubMed: 34646071
DOI: 10.1002/rmb2.12409 -
Journal of Interventional Medicine Aug 2022Adenomyosis is a common gynecological disease in reproductive women, which causes serious dysmenorrhea, menorrhagia, anemia, and infertility, and has a serious impact on...
Adenomyosis is a common gynecological disease in reproductive women, which causes serious dysmenorrhea, menorrhagia, anemia, and infertility, and has a serious impact on the physical and mental health of women. Considering that the efficacy of the traditional medication and surgical treatment is not ideal, an increasing number of patients are searching for more effective and less invasive therapies. Ultrasound (US)-guided microwave ablation (MWA) has emerged as a new effective and minimally invasive alternative treatment for symptomatic adenomyosis, and it is widely being used in clinical settings. Several studies have proven that it is an efficient and safe treatment modality for symptomatic adenomyosis, but a significant variance in clinical outcomes reported in previous studies was also observed. Herein, we have analyzed the potential causes of this problem from the aspects of the diagnosis of adenomyosis, symptom evaluation before ablation, steps of US-guided ablation treatment, and outcome evaluation after ablation. Simultaneously, the clinical problems existing in the ablation treatment of adenomyosis are discussed, and the directions of future research are pointed out.
PubMed: 36317146
DOI: 10.1016/j.jimed.2022.06.001 -
Journal of Clinical Medicine Sep 2023Heavy menstrual bleeding (HMB) is a common clinical condition affecting adolescent and adult women and compromising their quality of life. Primary hemostasis disorders,... (Review)
Review
Heavy menstrual bleeding (HMB) is a common clinical condition affecting adolescent and adult women and compromising their quality of life. Primary hemostasis disorders, affecting platelet plug formation, can be the underlying cause of HMB. They comprise a heterogeneous group of diseases with Von Willebrand disease (VWD) being the most commonly diagnosed; other disorders in this group that have been linked to HMB include (a) Glanzmann thrombasthenia, (b) Bernard-Soulier syndrome, (c) Hermansky-Pudlak syndrome, (d) immune thrombocytopenia (ITP), and (e) Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). Diagnosing these diseases can be challenging, as the basic laboratory investigations can be within the normal range. Thus, identification of specific clinical features and a thorough hematologic workup can be very important, providing the correct diagnosis. Proper diagnosis of the underlying disorder is important, as management may vary accordingly. Although disease-specific management guidelines exist for some of these disorders such as VWD and ITP, due to the rarity of most primary hemostasis disorders, the best approach for the management of HMB in these women remains elusive. The goal of this study was to create an informative, comprehensive review of the primary hemostasis disorders that have been linked to HMB. This study provides a summary of the basic published information regarding epidemiology, pathophysiology, clinical phenotype, diagnosis, and treatment of HMB in those diseases and serves as a reference guide for further reading.
PubMed: 37685769
DOI: 10.3390/jcm12175702 -
International Journal of Molecular... Mar 2023Uterine fibroids (UFs), also known as leiomyomas, are benign tumors of the myometrium affecting over 70% of women worldwide, particularly women of color. Although... (Review)
Review
Uterine fibroids (UFs), also known as leiomyomas, are benign tumors of the myometrium affecting over 70% of women worldwide, particularly women of color. Although benign, UFs are associated with significant morbidity; they are the primary indication for hysterectomy and a major source of gynecologic and reproductive dysfunction, ranging from menorrhagia and pelvic pain to infertility, recurrent miscarriage, and preterm labor. So far, the molecular mechanisms underlying the pathogenesis of UFs are still quite limited. A knowledge gap needs to be filled to help develop novel strategies that will ultimately facilitate the development of therapies and improve UF patient outcomes. Excessive ECM accumulation and aberrant remodeling are crucial for fibrotic diseases and excessive ECM deposition is the central characteristics of UFs. This review summarizes the recent progress of ascertaining the biological functions and regulatory mechanisms in UFs, from the perspective of factors regulating ECM production, ECM-mediated signaling, and pharmacological drugs targeting ECM accumulation. In addition, we provide the current state of knowledge by discussing the molecular mechanisms underlying the regulation and emerging role of the extracellular matrix in the pathogenesis of UFs and in applications. Comprehensive and deeper insights into ECM-mediated alterations and interactions in cellular events will help develop novel strategies to treat patients with this common tumor.
Topics: Infant, Newborn; Female; Humans; Uterine Neoplasms; Leiomyoma; Extracellular Matrix; Signal Transduction; Myometrium
PubMed: 36982852
DOI: 10.3390/ijms24065778 -
Thrombosis Journal Jul 2023Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare acquired bleeding disorder secondary to development of antibodies against prothrombin protein, in the...
Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare acquired bleeding disorder secondary to development of antibodies against prothrombin protein, in the presence of antiphospholipid antibodies. We describe the case of a 13-year-old girl who presented with severe menorrhagia and symptomatic anemia. Labs indicated anemia, thrombocytopenia, elevated PT and aPTT, high-titer inhibitor on mixing studies, positive ANA and anti-dsDNA antibodies, along with a triple-positive antiphospholipid antibody panel. Given additional systemic manifestations, systemic lupus erythematosus was diagnosed. High dose steroids and hydroxychloroquine subsequently started. Her clinical course was complicated by femoral deep venous thrombosis and post renal biopsy retroperitoneal hematoma. Further workup revealed low prothrombin level and the diagnosis of lupus anticoagulant hypoprothrombinemia syndrome. In view of suboptimal response to initial immunosuppressive therapy, rituximab was added to her regimen, leading to an improvement in clinical symptoms and resolution of hypoprothrombinemia. She remains recurrence free 5 years from the event.
PubMed: 37461027
DOI: 10.1186/s12959-023-00517-z -
International Journal of Hyperthermia :... 2021To investigate the long-term clinical outcomes of patients with adenomyosis treated by high-intensity focused ultrasound (HIFU).
OBJECTIVE
To investigate the long-term clinical outcomes of patients with adenomyosis treated by high-intensity focused ultrasound (HIFU).
MATERIALS AND METHODS
From June 2012 to January 2020, 2311 patients with adenomyosis were treated with HIFU at our center, 1982 patients who have complete clinical data were retrospectively reviewed. Among the patients who completed the follow-up, 485 were treated with HIFU alone, 289 were treated with HIFU followed by GnRH-a, 255 were treated with HIFU combined with Mirena and 594 were treated with HIFU combined with GnRH-a and Mirena. The dysmenorrhea severity pain score and average menorrhagia severity score before and at 3 months, 6 months, 1 year, 2 years, 3 years and 5 years after HIFU were compared. The adverse effects were recorded. In addition, the efficacy between patients treated with GnRH-a and/or Mirena were compared.
RESULTS
After HIFU ablation, the dysmenorrhea severity pain score and the menorrhagia severity score were significantly decreased at each follow-up time point. However, it was observed that as the follow-up time increased, the effective rate of HIFU treatment in improving dysmenorrhea and menorrhagia decreased. The 6 months and 3 years follow-up results showed that the efficacy of HIFU combined with Mirena and HIFU combined with GnRH-a and Mirena were significantly higher than HIFU alone and HIFU combined with GnRH-a ( < 0.05). The major complications were rare.
CONCLUSION
HIFU is a safe and effective treatment for patients with adenomyosis. HIFU combined with Mirena or HIFU combined with GnRH-a and Mirena can significantly enhance the long-term treatment results.
Topics: Adenomyosis; Dysmenorrhea; Female; High-Intensity Focused Ultrasound Ablation; Humans; Menorrhagia; Retrospective Studies; Treatment Outcome
PubMed: 33602049
DOI: 10.1080/02656736.2021.1886347 -
Hematology. American Society of... Dec 2020Heavy menstrual bleeding (HMB) is a common complication of anticoagulation, affecting ∼70% of menstruating women receiving oral anticoagulants. The risk of HMB is... (Review)
Review
Heavy menstrual bleeding (HMB) is a common complication of anticoagulation, affecting ∼70% of menstruating women receiving oral anticoagulants. The risk of HMB is lower with apixaban and/or dabigatran than with rivaroxaban. HMB can result in iron deficiency with or without anemia, increased need for medical interventions, decreased quality of life, and missed school/work. Mainstays of treatment include hormone therapies such as the levonorgestrel intrauterine system, subdermal implant, and other progesterone-based therapies, which can result in decreased blood loss and, in some cases, amenorrhea. Combined hormone therapies can be used while patients continue receiving anticoagulation and are also highly effective for decreasing menstrual blood loss. Rarely, procedure-based interventions such as endometrial ablation may be required. Patients should be evaluated for iron deficiency and anemia and offered supportive therapies as needed. Abbreviating the course of anticoagulation or skipping doses can increase the risk of recurrent venous thromboembolism by as much as fivefold, but switching oral anticoagulants may be considered. Awareness of HMB and careful history taking at each visit are crucial to avoid a missed diagnosis.
Topics: Adult; Anticoagulants; Female; Humans; Levonorgestrel; Menorrhagia; Pyrazoles; Pyridones; Quality of Life; Rivaroxaban; Venous Thromboembolism
PubMed: 33275699
DOI: 10.1182/hematology.2020000138 -
Journal of Korean Medical Science Sep 2023Menorrhagia is a common cause of iron deficiency anemia (IDA) in premenopausal women. However, the effects of menorrhagia on IDA in premenopausal women have been...
Comprehensive Analysis of Iron Deficiency Anemia and Its Related Disorders in Premenopausal Women Based on a Propensity Score Matching Case Control Study Using National Health Insurance Service Database in Korea.
BACKGROUND
Menorrhagia is a common cause of iron deficiency anemia (IDA) in premenopausal women. However, the effects of menorrhagia on IDA in premenopausal women have been underestimated compared to those on other IDA-related disorders (IRDs) such as gastrointestinal malignancies (GIMs). To better understand the relationship between menorrhagia and IDA in premenopausal women, we analyzed the National Health Insurance Service-National Health Information Database (NHIS-NHID).
METHODS
From 2005 to 2008, data about women between the age of 20 and 59 years were extracted from the NHIS-NHID to create a propensity score-matched case (IDA) and control group. The annual incidence of IDA was calculated per age group. A 10-year follow up of the study population was determined to detect IRDs in case and control groups. We compared the risk of detection (ROD) of IRDs, including GIM and gynecological disorders associated with menorrhagia - leiomyoma of uterus (LM) and adenomyosis (AM), in the case and the control group.
RESULTS
From 2005 to 2008, women diagnosed with IDA (n = 535,249) and healthy women as a control group (n = 1,070,498) were identified from the NHIS-NHID. The annual incidence of IDA was 767.4 (2005), 948.7 (2006), 981.6 (2007), and 897.7 (2008) per 100,000 women. The age distribution of IDA was similar each year; IDA was common in women aged 30-39 years (36-37%) and 40-49 years (30-32%), and its incidence was significantly decreased in women aged 50-59 years (< 10%). The ROD of IRDs were significantly higher in the IDA group than in the control group (LM: 20.8% vs. 6.9%, AM: 5.6% vs. 1.6%, and GIM: 2.6% vs. 0.7%). The corresponding hazard ratios were 3.89 (95% confidence interval [CI], 3.85-3.93) for LM, 4.99 (95% CI, 4.90-5.09) for AM, and 3.43 (95% CI, 3.32-3.55) for GIM. The ROD of the IRDs varied; the ROD of LM in the IDA group increased with age and decreased in the age group 50-59 years. AM was more frequently detected in women with IDA aged 30-39 years and less in women older than 40 years. The frequency of GIM increased with age.
CONCLUSION
In this study, we found that the gynecologic disease is the main cause of IDA in premenopausal women. Gynecological evaluations should be performed more actively in the clinic to prevent and control IDA and IRDs.
Topics: Humans; Female; Young Adult; Adult; Middle Aged; Male; Anemia, Iron-Deficiency; Case-Control Studies; Menorrhagia; Propensity Score; National Health Programs; Republic of Korea
PubMed: 37724497
DOI: 10.3346/jkms.2023.38.e299