Search Results (50)

Background and Clinical Significance: Placental site trophoblastic tumour (PSTT) is a malignant tumour of the implantation site intermediate trophoblasts. It has historically been described using terms such as atypical chorioepithelioma, atypical choriocarcinoma, syncytioma, and chorioepitheliosis. It belongs to one of the heterogeneous spectrums of gestational trophoblastic disease. It accounts for about 0.25 to 5% of all gestational trophoblastic neoplasia. The typical clinical presentation is alternating menorrhagia and amenorrhea, mildly elevated β-hCG, and radiological findings of a uterine mass. Case Presentation: A 32-year-old woman presented with a history of intermittent menorrhagia and amenorrhea, with a persistent mildly raised β-hCG level. Ultrasonography showed a hypoechoic lesion on the right side of the posterior wall of the uterus. She was diagnosed with a missed miscarriage, and an evacuation of the products of conception was performed. Histologically, the tissue fragments comprised cords and sheets of atypical intermediate trophoblast cells, with characteristic features of myometrial smooth muscle infiltration, vascular invasion, and vascular wall replaced by the neoplastic cells. Immunohistochemically, these cells are positive for β-hCG and GATA3, while negative for P63. Conclusions: PSTT is a rare form of gestational trophoblastic neoplasia. Early recognition of PSTT is essential because its clinical presentation may mimic benign pregnancy-related conditions, and diagnosis relies heavily on histopathological and immunohistochemical evaluation. Full article

Background: Smooth muscle tumors of uncertain malignant potential (STUMPs) are rare uterine neoplasms occupying the diagnostic continuum between benign leiomyoma and overtly malignant leiomyosarcoma. Their preoperative identification remains beyond the capability of current imaging modalities, and the diagnosis is almost invariably established through postoperative histopathological examination. The natural history of STUMP is highly variable, with recurrence rates ranging from approximately 7–27% and a documented potential for malignant transformation, underscoring the need for accurate pathological classification and long-term surveillance. Case Presentation: A 40-year-old woman with a history of hypertension presented with a 5-month history of progressive lower abdominal distension, urinary frequency, and menorrhagia. Transabdominal ultrasonography identified a large uterine fundal mass measuring approximately 10.89 × 8.96 cm. Preoperative laboratory findings demonstrated microcytic anemia. She underwent laparo-endoscopic single-site supracervical hysterectomy with bilateral salpingectomy. Histopathological examination revealed spindle cells with bland to mildly atypical nuclei, a mitotic count of <10/10 high-power fields, and focal necrosis, consistent with a diagnosis of STUMP. The patient remained free of recurrence over a 2-year follow-up period. Conclusions: This case illustrates the diagnostic challenge posed by STUMP in the preoperative setting and highlights the critical importance of thorough histopathological evaluation of all uterine smooth muscle tumor specimens. Minimally invasive hysterectomy with in-bag morcellation represents a feasible surgical approach, and long-term oncological surveillance is warranted given the risk of late recurrence and malignant transformation. Clinicians should maintain a heightened index of suspicion for borderline smooth muscle tumors when evaluating large or symptomatic uterine masses in premenopausal women. Full article

Background and Objectives: Adenomyosis is increasingly being recognized as a heterogeneous uterine disorder with variable clinical expressions. Current ultrasound-based classifications do not consistently align structural severity with symptom burden. Given its role in angiogenesis, inflammation, and endometrial remodeling, vascular endothelial growth factor (VEGF) signaling may influence both morphological features and clinical manifestations. This study evaluated the association between three VEGF polymorphisms (−2578C/A, −634G/C, −936C/T) and adenomyosis presence, ultrasound-based severity, and symptoms in infertile women undergoing in vitro fertilization (IVF). Materials and Methods: In this prospective cohort study, 85 infertile women were assessed for adenomyosis using MUSA criteria and Exacoustos grading. VEGF genotyping was performed by PCR-RFLP. Clinical data included menstrual bleeding status scores and dysmenorrhea intensity. Results: Under a dominant model, the variant genotypes (AA+CA) of the VEGF–2578C/A polymorphism −2578 A showed increased odds of adenomyosis versus CC (adjusted OR = 4.00, 95% CI: 1.48–10.84; p = 0.0037). The A allele frequency was higher in women with adenomyosis (57.14% vs. 33%), which was consistent with increased susceptibility (OR = 2.71, 95% CI: 1.44–5.09; p = 0.003). The AA + CA genotypes were more frequent with higher ultrasound-based severity (p = 0.0029; 50% vs. 72% vs. 100% across increasing severity strata); however, among women with adenomyosis, AA + CA carriers had lower odds of clinically relevant dysmenorrhea (adjusted OR = 0.18, 95% CI: 0.06–0.55; p = 0.0017), which remained significant after correction for multiple testing (adjusted p = 0.0051). No significant associations were identified for −936C/T or −634G/C across adenomyosis presence, ultrasound-based severity, number of sonographic features, dysmenorrhea, or heavy menstrual bleeding (all p > 0.05). Conclusions: These preliminary findings suggest divergent associations of VEGF −2578C/A with structural severity versus symptom expression, supporting a partial dissociation between ultrasound-defined severity and clinical phenotype in adenomyosis. Full article

Background and clinical significance: Tranexamic acid (TXA) is commonly used for menorrhagia. Common side effects include diarrhoea, nausea, and vomiting. However, more serious and rare side effects, including embolism, thrombosis, and seizures, are less commonly considered. Case presentation: We report the case of a 39-year-old woman of Asian origin who presented after a first-time seizure while driving, following starting tranexamic acid for menorrhagia seven days prior. She complained of a headache, nausea, neck stiffness, floaters, and blurred vision. Her lactate was elevated on presentation. On examination there were no neurologic abnormalities. A computed tomography (CT) head scan showed acute haemorrhagic foci along the left temporal lobe. This prompted a CT venography, which showed filling defects in the left transverse and sigmoid sinuses, in keeping with cerebral venous sinus thrombosis. MRI of the head further showed a blooming artefact, indicating secondary thrombosis of the lateral tentorial sinus on the left side extending into the vein of Labbe. Following the diagnosis of cerebral venous sinus thrombosis, the patient was started on regular levetiracetam as well as a therapeutic dose of low molecular weight heparin. Since the initial episode, she has been seizure-free for over three months now. Conclusions: This case highlights the importance of considering less common side effects of tranexamic acid in patients who are taking TXA and are presenting with first-time seizures and headaches. These patients should be monitored for embolic-related intracranial events. A careful diagnostic approach, including cerebrovascular imaging, is essential for an accurate diagnosis and effective treatment. Full article

Background: Endometriosis is a chronic disease defined by the presence of endometrial-like tissue outside the uterine cavity. While typically confined to the pelvis, extrapelvic manifestations—including thoracic endometriosis—can occur. Although rare, thoracic endometriosis is the most common extragenital form. In clinical practice, this presentation is often described as thoracic endometriosis syndrome (TES), a constellation of cyclic thoracic symptoms temporally associated with menstruation but not always histologically confirmed. Its atypical symptoms and limited clinical awareness frequently lead to delayed diagnosis, mismanagement and increased patient burden. Methods: In accordance with the CARE guidelines, we present a case report of a female patient with thoracic endometriosis syndrome, emphasizing the prolonged interval between symptom onset and final diagnosis. Case Report: We describe a 42-year-old woman with a longstanding history of dysmenorrhea and menorrhagia, who developed cyclical chest pain and dyspnea in 2019. Despite multiple thoracoscopic procedures, her symptoms persisted and were repeatedly misattributed to anxiety or infection. Thoracic endometriosis syndrome (TES) was suspected in 2022, and although histopathological confirmation was lacking, intraoperative visualization revealed diaphragmatic fenestrations. In 2025, a second laparoscopic intervention targeting the abdominal surface of the diaphragm resulted in significant symptom relief. The patient is currently continuing hormonal therapy with Dienogest and has reported a marked improvement in quality of life. Nevertheless, the protracted diagnostic and therapeutic process—marked by chronic pain and repeated hospitalizations—had a profound psychosocial impact, culminating in a suicide attempt. Conclusions: This case illustrates the substantial burden associated with the delayed recognition of thoracic endometriosis syndrome and the consequences of fragmented care. The patient’s experience underscores the urgent need for coordinated, multidisciplinary management and psychological support, particularly for patients with extrapelvic manifestations. Early multidisciplinary evaluation, with readiness to consider surgical intervention alongside individualized hormonal therapy, may support improved outcomes, provided they are reinforced by increased clinical awareness and systemic improvement in diagnostic pathways. Full article

Background: Dengue infection is a spreading vector borne disease with most severe infection-related fatalities occurring in adults. This study was conducted to explore prognostic indicators of dengue infection severity. Methods: This study included patients aged over 15 years who were diagnosed with dengue viral infection. Data were collected from nine hospitals across all regions of Thailand between January 2019 and December 2022. Diagnosis of dengue infection was confirmed by a positive result for the NS-1 antigen via RT–PCR, IgM antibody, or IgG antibody tests. Data including gender, age, BMI, underlying disease, clinical characteristics and laboratory findings were collected. Multivariable logistic regression with backward elimination was used to identify a set of prognostic factors. Results: The prognostic indicators of severe dengue were age < 55 years (OR = 6.13, p = 0.054), severe bleeding (bleeding from the gastrointestinal tract, hematemesis, melena, menorrhagia, or hematuria) (OR = 20.75, p < 0.001), pleural effusion (OR = 10.23, p < 0.001), and platelet ≤ 100,000 (/µL) (OR = 3.62, p = 0.035). These predictors were able to accurately estimate the severity of dengue infection with an area under the receiver operating curve (AuROC) of 0.836. Conclusions: The proposed four prognostic factors can be applied to predict severe dengue infections. These findings may inform the development of a risk scoring system to forecast severe dengue infection, early detection, and appropriate treatment during sickness. Full article

Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated with variable bleeding tendencies and an increased risk of myeloid malignancies. However, the extent of this oncogenic risk appears to vary between specific gene variants. Understanding the genotype–phenotype relationship is essential for patient counseling and management. This report presents a multigenerational family carrying the rare c.−118C > G variant in the 5′ untranslated region of ANKRD26, contributing to the discussion on variant-specific cancer predisposition. Case Presentation: Two sisters aged 57 and 60 presented with lifelong bleeding diathesis and moderate thrombocytopenia. Their symptoms included easy bruising, menorrhagia, and excessive postoperative bleeding. Genetic testing confirmed heterozygosity for the ANKRD26 c.−118C > G variant. Bone marrow analysis revealed abnormal megakaryopoiesis without evidence of dysplasia or somatic mutations. One sister underwent major surgery without complications when managed with prophylactic hemostatic therapy. Their family history included multiple female relatives with similar symptoms, although formal testing was limited. Notably, none of the affected individuals developed hematologic malignancy, and only one developed esophageal cancer, with no current evidence linking this variant to solid tumors. Conclusions: This case underscores the importance of distinguishing between ANKRD26 variants when assessing malignancy risk. While ANKRD26-RT is associated with myeloid neoplasms, the c.−118C > G variant may confer a lower oncogenic potential. Variant-specific risk stratification and genetic counseling are crucial for optimizing surveillance and avoiding unnecessary interventions in low-risk individuals. Full article

Endometriosis is a chronic gynecological pathology marked by the aberrant proliferation of tissue analogous to the endometrial lining outside the uterine cavity. This disorder frequently engenders persistent pelvic discomfort, infertility, and an extensive array of additional manifestations, including menorrhagia, dyspareunia, and gastrointestinal anomalies. Affecting an estimated 10% of women within the reproductive age demographic globally, endometriosis continues to present as a multifaceted and formidable challenge. The precise etiology remains elusive, leading to extended diagnostic intervals and personalized, often inadequate, therapeutic approaches. The intrinsic heterogeneity of endometriosis, evident in its varied phenotypes and clinical manifestations, further complicates both precise diagnosis and efficacious treatment. Conventional management hinges on hormonal interventions, which may not be appropriate for women desiring conception or for those experiencing substantial adverse effects. While surgical procedures are accessible, they do not provide a conclusive resolution, and the probability of recurrence remains high. Progress in diagnostic methodologies, such as non-invasive biomarker analyses, combined with an expanding understanding of the molecular and immunological frameworks that underpin the condition, presents promising prospects for the development of more targeted and individualized non-hormonal treatment modalities in the near future. Full article

Adenomyosis is a benign gynecologic disease that mainly affects women aged 30–50 years old. Background: This pathology is characterized by glands and stroma of the endometrium that enter the myometrium and is confirmed through histopathological examination after hysterectomy. Transvaginal ultrasound is the most accepted imaging approach for the diagnosis and classification of adenomyosis. Existing medical treatments are not curative and are associated with several side effects. Uterine artery embolization is an alternative treatment for controlling the symptoms of adenomyosis with less trauma while preserving the uterus. Methods: The aim of our study was to observe the utility of uterine artery embolization (UAE) compared to hysterectomy in specific cases of adenomyosis. A retrospective cohort study was carried out between February 2024 and April 2025. We included 52 patients in our study: 27 opted for hysterectomy, while the other 25 chose to receive uterine artery embolization between January 2017 and December 2018. Clinical follow-up was assessed using a questionnaire regarding symptomatic changes in menorrhagia, pelvic pain, and quality of life before and after the surgical procedure. Statistical analyses were performed. Results: Patients opted for hysterectomy in cases of severe abnormal uterine bleeding before surgery that severely affected quality of life (p < 0.03 and p < 0.001). After surgery, pelvic pain improved for women who underwent UAE, but patients also reported no pelvic pain after hysterectomy. Furthermore, mild to moderate abnormal uterine bleeding was reported in cases of UAE, and bleeding stopped completely for women who had their uterus removed (p < 0.001). Quality of life improved for both groups and was reported as being good after the interventions. Conclusions: Embolization remains an alternative therapeutic option in adenomyosis but not a substitute for hysterectomy. This was concluded based on a case-by-case evaluation, depending on the desire for pregnancy, with a focus on improved clinical outcomes. Full article

Menopause is associated with significant hormonal and reproductive changes in women. Evidence documents interindividual differences in the signs and symptoms associated with menopause, including cognitive decline. Hypothesized reasons for the cognitive decline include changes in hormone levels, especially estrogen, but study findings have been inconsistent. Hormone replacement therapies (HRTs) are often recommended to alleviate menopause-related symptoms in both peri- and postmenopausal women. However, the North American Menopause Society does not recommend the use of HRT for the management of cognitive complaints in perimenopausal women due to lack of evidence. Additionally, there are many women for which the use of HRT is contraindicated. As such, it would be helpful to have an alternative method for alleviating symptoms, including declines in cognition, during the menopause transition. Iron supplementation may be a promising candidate as it has been associated with improved cognitive performance in premenopausal women with iron deficiency and iron deficiency anemia. Because many women will experience heavy blood losses during perimenopause, they are at risk of becoming iron deficient and/or anemic. The use of iron supplementation in women with iron deficiency may serve to not only improve iron status but also to alleviate many of the signs and symptoms associated with perimenopause (lethargy, depressed affect, etc.), including cognitive decline. However, evidence to inform treatment protocols is lacking. Well-designed studies of iron supplementation in perimenopausal women are needed in order to understand the potential of such supplementation to alleviate the cognitive decline associated with perimenopause. Full article

Background and Clinical Significance: Paratubal Leydig cell nodules are rare incidental findings that present diagnostic challenges. Case Presentation: A 45-year-old female with a history of hypertension and diabetes mellitus presented with fever and chills following an episode of severe dysmenorrhea and menorrhagia. The patient reported heavy menstrual bleeding, persisting for 2–3 years. Physical examination revealed erythema of the perineum and whitish vaginal discharge, with no cervical lesions. Imaging revealed a 15 cm right ovarian cyst. Laboratory investigations showed elevated C-reactive protein (6.37 mg/L) and CA125 (88.82 U/mL) levels, whereas other tumor markers were within normal limits. A pelvic ultrasound revealed a retroverted uterus and a large ovarian mass suggestive of malignancy. The patient underwent a right salpingo-oophorectomy, during which a 15 cm ovarian tumor adherent to the right pelvic sidewall was excised. Histopathological examination revealed an endometriotic cyst with endometrial glandular epithelium positive for estrogen receptor and focal mucinous metaplasia. CD10-positive endometrial stromal cells and paratubal cysts were also observed. Additionally, a small Leydig cell tumor originated from the ovarian hilum was identified and confirmed by positive staining for inhibin, calretinin, and androgen receptors, as well as negative estrogen receptor staining. The postoperative recovery was uneventful, and at the five-week follow-up, the patient’s hormonal levels were normal, and there were no complications. Conclusions: This case highlights the importance of thorough histopathological evaluation in managing ovarian masses and the potential coexistence of benign and rare pathological entities, such as Leydig cell tumors. Full article

Background: Some women experience menstrual disorders such as polymenorrhea, oligomenorrhea, and menorrhagia, which are not only influenced by biological factors but also by lifestyle and psychosocial factors. Understanding menstrual disorders is essential for women’s health and quality of life. Objectives: To identify policies that are needed to prevent menstrual disorders, we investigated the prevalence and risk factors of menstrual disorders in this study. Methods: A web-based questionnaire survey evaluated menstrual characteristics and biological, lifestyle, and psychosocial risk factors in 13,943 South Korean females aged 15–45 years. A Chi-square test was used to compare the prevalence of menstrual disorders by general and psychosocial characteristics. A logistic regression analysis was utilized to determine odds ratios (ORs) of risk factors for menstrual disorders. Adjusted ORs of the risk factors for menstrual disorders, after adjusting for other risk factors, were calculated. Results: The prevalence of polymenorrhea, oligomenorrhea, and menorrhagia was 3.1%, 9.0%, and 5.4%, respectively. A significantly high prevalence of menstrual disorders was associated with the following risk factors: underweight (OR: 1.291) and current smoking (OR: 1.516) for polymenorrhea; overweight (OR: 1.354), obesity (OR: 2.164), current drinking (OR: 1.170), depression (OR: 1.416), and perceived stress (OR: 1.248) for oligomenorrhea; and depression (OR: 1.521) for menorrhagia. Conclusions: This cross-sectional study highlighted that menstrual disorders are significantly associated with lifestyle habits and psychosocial factors in South Korean women. These findings can serve as scientific evidence to support public health initiatives aimed at enhancing awareness and menstrual health management among women. Full article

Background: Despite increased attention to double-jointedness or joint hypermobility as seen in connective tissue dysplasias like Ehlers–Danlos syndrome, improved clinical DNA correlations are needed to reduce decadal delays in diagnosis. Methods: To this end, patterns of history (among 80) and physical (among 40) findings are compared for 121 Ehlers–Danlos syndrome patients with recurring variants in collagen type I, II, III, V, VI, VII, IX, XI, and XII genes and novel ones in type XV, XVII, XVIII, and XXVII. Results: A recognizable tissue laxity–dysautonomia profile that transcended collagen biochemical class, triple helix component, mutation type, or presence of accessory DNA variants was defined with a few exceptions. Patients with novel variations experienced severe symptoms at younger ages (6–10 versus 14–18 years) and those with collagen type III variations had more than one significant difference in finding frequencies (spinal disk issues 75% versus 49%; bloating-reflux 100% versus 69%; migraines or menorrhagia 92% versus 53%). Conclusions: These results suggest that collagen DNA variants of diverse gene and molecular type can demonstrate EDS disposition and hasten its diagnosis when distress and disease become manifest. Full article

This study reinforces the value of a One Health approach to infectious disease outbreak investigations. After the onset of neuropsychiatric symptoms in their son, our investigation focused on a family composed of a mother, father, two daughters, the son, two dogs, and a rabbit, all with exposures to vectors (fleas and ticks), rescued dogs, and other animals. Between 2020 and 2022, all family members experienced illnesses that included neurological symptoms. Prolonged menorrhagia (130d) in the youngest daughter ultimately resolved following antibiotic administration. One dog was diagnosed with a splenic hematoma and months later spinal histiocytic sarcoma. The father, both daughters, and one dog were seroreactive to multiple Bartonella spp. antigens, whereas the mother and son were not seroreactive. Bartonella quintana DNA was amplified from specimens obtained from all family members. Based upon DNA sequencing, infection with B. quintana was confirmed for the mother and both pet dogs. Bartonella henselae DNA was amplified and sequenced from the youngest daughter, the son, and one dog (co-infected with B. quintana), and from Ctenocephalides felis collected from their pet rabbit. All five family members and one dog were infected with Babesia divergens-like MO-1. Both parents were co-infected with Babesia microti. Droplet digital PCR supported potential infection with a Borrelia species in three family members. This study provided additional case-based evidence supporting the role of stealth Babesia, Bartonella, and Borrelia pathogens as a cause or cofactor in neurological and neuropsychiatric symptoms. We conclude that a One Health investigation approach, particularly for stealth vector borne pathogens such as Babesia, Bartonella, and Borrelia spp., will enhance clinical and epidemiological understanding of these organisms for animal and human health. During outbreak investigations it is critical to document travel and vector exposure histories, symptoms, and pathology in pets and human patients, contact with rescued, wild, or feral animals and perform diagnostic testing that includes family members, pets, and vectors. Full article

Background: Smooth Muscle Tumor of Uncertain Malignant Potential (STUMP) is a poorly studied neoplasm that does not fulfill the definition of either leiomyoma or leiomyosarcoma. STUMP symptoms are indistinguishable from those of benign lesions; it has no specific biochemical markers or ultrasound presentations. The management of this type of tumor is particularly challenging due to significant heterogeneity in its behavior and the lack of clear guidelines; moreover, the lesion may recur after excision. Case Report: We report on a case of a 42-year-old patient diagnosed with a STUMP. The preliminary diagnosis was a submucous leiomyoma, which was removed hysteroscopically due to menorrhagia resulting in anemia. The histopathological examination of the resected myoma pointed to the diagnosis of STUMP. The hysterectomy was performed as the patient had completed her reproductive plans. There were no complications. The patient is currently recurrence-free after a 9-month follow-up. Discussion and Conclusions: The care of a patient diagnosed with STUMP requires a personalized approach and the cooperation of various medical disciplines, including molecular diagnostics, imaging techniques, and minimally invasive surgery. Management of STUMP must consider the patient’s plans for childbearing. All cases of tumors with “uncertain malignant potential” are a challenge in the context of patient-physician communication. Full article