Search Results (305)

(1) Background: Sertoli–Leydig cell tumors (SLCTs) are rare ovarian neoplasms that account for less than 0.5% of all ovarian tumors. They usually affect young women and often present with androgenic symptoms. We report a unique case of a 40-year-old woman diagnosed with both SLCT and clear cell papillary renal cell carcinoma (CCP-RCC), a rare tumor association with unclear pathogenesis. (2) Methods: Both tumors were treated surgically. The diagnostic workup included hormonal testing, imaging studies, and extensive genetic testing, including DICER1 mutation analysis and multiplex ligation-dependent probe amplification (MLPA), as well as the examination of a next-generation sequencing (NGS) panel covering ~280 cancer-related genes. (3) Results: Histopathologic examination confirmed a well-differentiated SLCT and CCP-RCC. No pathogenic variants in DICER1 were identified by WES or MLPA. No clinically relevant changes were found in the extended NGS panel either, so a known hereditary predisposition could be ruled out. The synchronous occurrence of both tumors without genomic alterations could indicate a sporadic event or as yet unidentified mechanisms. (4) Conclusions: This case highlights the importance of a multidisciplinary approach in the management of rare tumor compounds. The exclusion of DICER1 mutations and the absence of genetic findings adds new evidence to the limited literature and underscores the importance of long-term surveillance and further research into potential shared oncogenic pathways. Full article

The present study aimed to investigate the electrophysiological correlates of face-identity recognition in newborn infants immediately after birth. Electroencephalographic acquisition was continuously recorded in 23 newborn infants (3 < age < 24 h of life) during the following visual task: presentation of a woman’s face for 60 s (“known face”); random presentation of 50 known faces, 50 novel women’s faces, and 50 chessboards (for 2 s each). The final sample included in ERP analyses was composed of 11 newborn infants (male/female: 6/5; age: 5 h 16′ ± 3 h 51′). A greater negative amplitude of the N290 and smaller P400 and LC2 were found in response to the known face compared with the novel one in the left hemisphere. A shorter N290 latency was detected during the known face presentation compared with the novel one, and a longer latency of the same component was observed during novel face presentation compared with the chessboard. These findings suggest that newborns process a face differently from an object at birth and that they can discriminate a new face from a familiar one previously viewed for one minute. Full article

According to the guidelines of the American Society of Clinical Oncology (ASCO) and the European Society of Medical Oncology (ESMO), the most significant genetic factor in the diagnosis and treatment of breast cancer is the mutation status of the BRCA1 and BRCA2 genes. Additional genes with a significant influence on cancer risk were selected for genetic panel screening. For these genes, the disease risk score was predicted to be greater than 20%. In clinical practice, it is observed that rare genetic variants have a significant impact in young patients, characterized by increased pathogenesis and a poorer overall prognosis. The ability to predict the potential effects of these rare variants may reveal important information regarding possible phenotypes and may also provide new insights leading to more efficacious treatments and overall improved clinical management. This paper presents the case of a 38-year-old woman with bilateral breast cancer who is likely a carrier of a pathogenic point mutation in the LZTR1 gene (LZTR1: c.1260+1del variant). With this clinical case report herein described, we intend to display the usefulness of performing detailed molecular tests in the field of genetic diagnostics for patients with breast cancer. Understanding the pathogenesis of hereditary cancer development, which is more predictable and reliable than that of sporadic tumors, will allow for the discovery of hitherto hidden intrinsic signaling pathways, facilitating replicable experimentation and thereby expediting the discovery of novel therapeutic treatments. Full article

Despite decades of research, the pathophysiology of preeclampsia (PE) and polycystic ovary syndrome (PCOS) remains poorly understood. Notably, no new FDA-approved treatments for PE have emerged in over 50 years. PCOS, a common endocrine disorder, increases a woman’s risk of developing PE. Both conditions share overlapping mechanisms, including insulin resistance, chronic inflammation, endothelial dysfunction, and oxidative stress. While physiological levels of reactive oxygen species (ROS) are essential for reproduction, excess ROS contributes to cellular and mitochondrial damage. This review will assess current evidence linking oxidative stress and mitochondrial dysfunction to the development of PCOS and PE, explore their shared mechanisms, and evaluate emerging therapeutic interventions. Ultimately, a comprehensive understanding of these shared mechanisms may inform strategies for early prediction, prevention, and the treatment of PE and PCOS. Full article

The complosome controls different activities in innate immune cells and epithelial cells; however, its role in the response of VECs to Candida remains untested. In this in vitro study, we compared two clinical vaginal strains of C. albicans, namely, a Colonizing strain from a healthy woman and a strain from a patient with vulvovaginal candidiasis (VVC), for their ability to activate the complosome and release anaphylatoxins in vaginal epithelial cells (VECs). Our results show the following: (i) both strains triggered the cleavage of C3 into C3a and C3b within VECs, while infection with the Colonizing strain led to greater release of the anaphylatoxin C3a; (ii) infection with the VVC isolate led to a strong reduction in both C5 and C5a in VECs, while no increase in C5a release was observed after infection with either strain; (iii) cathepsin-family gene expression and cathepsin D activity were reduced in VECs infected with the VVC strain but not in those infected with the Colonizing strain; (iv) infection with the Colonizing strain induced a significant increase in intracellular C5aR1 while intracellular C3aR levels remained unchanged. Collectively, our data suggests the propensity of this VVC strain to inactivate the C5/C5aR1 axis and to reduce the C3/C3aR axis, dampening the activity of the complosome in VECs. These effects exerted by the VVC strain suggest a novel strategy of immune evasion by C. albicans and may open new perspectives for finding new therapeutic targets against vaginal fungal infections. Full article

Background: Exophiala dermatitidis is a dematiaceous, thermotolerant, yeast-like fungus increasingly recognized as an opportunistic pathogen in chronic airway diseases. While commonly associated with cystic fibrosis, its clinical significance in non-cystic fibrosis bronchiectasis (NCFB) remains unclear. Case Presentation: We report the case of a 66-year-old immunocompetent woman with a history of breast cancer in remission and NCFB, who presented with chronic cough and dyspnea. Chest CT revealed bilateral bronchiectasis with new pseudonodular opacities. Bronchoalveolar lavage cultures identified E. dermatitidis, along with Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus. Given clinical stability and the absence of systemic signs, initial therapy included oral voriconazole, levofloxacin, doxycycline, and inhaled amikacin. Despite persistent fungal isolation on repeat bronchoscopy, the patient remained asymptomatic with stable radiologic and functional findings. Antifungal therapy was discontinued, and the patient continued under close monitoring. The patient exhibited clinical and radiological stability despite repeated fungal isolation, reinforcing the hypothesis of persistent colonization rather than active infection. Discussion: This case underscores the diagnostic challenges in distinguishing fungal colonization from true infection in structurally abnormal lungs. In NCFB, disrupted mucociliary clearance and microbial dysbiosis may facilitate fungal persistence, even in the absence of overt immunosuppression. The detection of E. dermatitidis should prompt a comprehensive evaluation, integrating clinical, radiologic, and microbiologic data to guide management. Voriconazole is currently the antifungal agent of choice, though therapeutic thresholds and duration remain undefined. Conclusions: This report highlights the potential role of E. dermatitidis as an under-recognized respiratory pathogen in NCFB and the importance of a multidisciplinary, individualized approach to diagnosis and treatment. This case underscores the need for further research on fungal colonization in NCFB and the development of evidence-based treatment guidelines. Further studies are needed to clarify the pathogenic significance, optimal management, and long-term outcomes of E. dermatitidis in non-CF chronic lung diseases. Full article

Background and Clinical Significance: Non-small-cell lung cancer (NSCLC) with EGFR mutations, particularly de novo compound mutations such as exon 19 deletions (Ex19del) with T790M substitutions, present a significant clinical challenge due to resistance to many treatments. While treating these patients, the administration of osimertinib, a third-generation EGFR inhibitor, after immunotherapy can lead to unique immune-related adverse events (irAEs), such as pneumonitis and, rarely, hepatitis. Case Presentation: A 36-year-old Filipino woman presented with metastatic NSCLC harboring de novo Ex19del and T790M mutations. Despite initial therapy with carboplatin and paclitaxel, followed by chemoimmunotherapy, the patient’s disease progressed. She subsequently developed severe hepatitis from osimertinib after her prior immunotherapy with pembrolizumab. After the hepatitis resolved with high-dose steroids, osimertinib was switched to afatinib, but her disease rapidly progressed with new metastases. A second attempt at osimertinib rechallenge, with concomitant prednisone, resulted in substantial disease control, including improved leptomeningeal disease (LMD) and no recurrence of hepatitis. Conclusions: This case underscores the feasibility of rechallenging with osimertinib in patients who experience adverse events such as hepatotoxicity, provided that appropriate management strategies, such as steroid therapy, are employed. The successful rechallenge in this case highlights the potential of osimertinib as a viable option in advanced EGFR-mutant NSCLC, even after prior treatment-related complications. Full article

The prevalence, pathogenesis, and long-term consequences of hypertension differ significantly across the sexes, and pregnancy is a special physiological stress test that can reveal a woman’s underlying cardiovascular sensitivity. In addition to being direct risks to the health of the mother and fetus, hypertensive disorders of pregnancy (HDPs), especially preeclampsia, are also reliable indicators of future hypertension and cardiovascular disease in those who are afflicted. Fetal sex has a substantial impact on maternal vascular adaptation, according to new data from placental transcriptomics and epigenetics. This may be due to variations in the expression of angiogenic, immunomodulatory, and vasoactive genes. Sex-specific patterns of placental function, inflammation, and endothelium control are specifically influenced by X-linked gene dosage, escape from X-inactivation, and sex chromosomal composition. These biological variations highlight the placenta’s potential function as a mediator and indicator of maternal cardiovascular risk, and they may help to explain why the incidence and severity of hypertensive pregnancy challenges vary depending on the fetal sex. The purpose of this review is to summarize the state of the art regarding how placental genetics and fetal sex influence maternal hypertensive risk both during and after pregnancy. Additionally, it will investigate how these findings may influence sex-specific cardiovascular screening, prediction, and prevention methods. Full article

Background: A pseudotumor adjacent to the odontoid has been reported to be a non-neoplastic mass that is mainly associated with atlantoaxial instability. Methods: Case report. Results: A 72-year-old woman presented to our clinic with a chief complaint of bilateral fine motor dysfunction and gait disturbance. She had rheumatoid arthritis as a comorbidity. Physical examination revealed bilateral hand fine motor dysfunction and signs of myelopathy, including hyperreflexia of the deep tendon reflexes in the lower extremities. Magnetic resonance imaging (MRI) showed a retro-odontoid pseudotumor. Surgery was proposed to the patient, but she did not wish to undergo surgery at this time. At a follow-up visit approximately one year after the initial visit, she complained of the progression of the bilateral hand fine motor dysfunction and gait disturbance. MRI demonstrated a pseudotumor in the space anterior to the odontoid process, indicating that the localization of the pseudotumor around the odontoid process changed from the posterior space to the anterior space in its natural course. Conclusions: The speculated sequential mechanism of the change in the location of the pseudotumor from the posterior space to anterior space to the odontoid process in the natural course is as follows: As the rheumatoid arthritis progressed, the C1-2 joint was immobilized in the dislocated position, and as a result, the retro-odontoid pseudotumor disappeared due to immobilization of the C1-2 joint. Following the disappearance of the retro-odontoid pseudotumor, the odontoid process shifted backward owing to rupture of the transverse annular ligament. Consequently, a new space appeared in front of the odontoid process. Subsequently, damage to the apical and alar ligaments resulted in pseudotumor formation in the new space. Considering our case, the formation of an antero-odontoid pseudotumor occurs only in limited cases, with extreme progression of the pathology. Most cases of retro-odontoid pseudotumors are treated by surgery before such a progression; therefore, we consider that such a case has not yet been reported in the literature. Full article

In this article, we present a case of a 49-year-old woman presenting with a recurrent metastatic neuroendocrine tumor. Background: Insulinomas are neuroendocrine tumors derived from beta cells of the pancreas that secrete insulin. Usually, they are benign tumors; however, metastatic insulinomas are an extremely rare malignant form of these tumors, carrying a significantly worse prognosis. Case Presentation: A 49-year-old woman, a patient in the University Hospital in Wroclaw in the Department of Endocrinology, Diabetes and Isotope Therapy, first presented with abdominal pain in 2009, when ultrasound and further examination led to the diagnosis of a tumor in the pancreas (a solid pseudopapillary tumor of the pancreas—meta NET G2), and the patient underwent distal pancreatectomy with splenectomy. For ten years, she was under observation, and her symptoms, such as abdominal pain, nausea, weight loss, and general weakness, reappeared in 2019. Then, magnetic resonance imaging (MRI) showed a lesion in the liver, and further histopathology revealed neuroendocrine tumor (NET) metastasis to the liver. In 2022, the patient presented with loss of consciousness and convulsion, loss of weight, and hypoglycemia after meals. In April 2022, the daily glycemic profile was recorded and a 72 h fasting test was performed; however, their results excluded insulinoma. Positron emission tomography–computed tomography (PET-CT) with 18F-fluorodeoxyglucose (18F-FDG) and PET with gallium-68-DOTA-(Tyr3)-octreotate (68Ga-DOTA-TATE) showed a metastatic proliferative process in the liver. Persistent hypoglycemia led to another hospitalization in May 2022, and repeated tests allowed for the diagnosis of insulinoma. Treatment with somatostatin analogs and diazoxide was started. A CT scan in November 2022 and a PET scan in January 2023 showed new metastases to the liver, bones, and cervical lymph nodes, and it was decided to intensify the treatment. In May 2023, the patient was qualified for Lutathera treatment for insulinoma at the University Clinical Hospital in Poznań. In June 2023, another disturbing symptom was reported by the patient, a painful lump in the breast. During diagnostics, metastases with high proliferation markers were found in both breasts. Two months later, in August 2023, the patient received another dose of Lutathera. In October 2023, significant progression of liver lesions, metastases to bones of the spine, ribs, and pelvis, and periaortic and pelvic lymphadenopathy were found as well as elevated values of neuron-specific enolase and calcitonin. The patient was also referred to the Palliative Medicine Home Hospice. In consultation with the Lower Silesian Cancer Center, the decision was made to forgo further treatment with PRRT and initiate systemic chemotherapy. Despite the chosen treatment, the patient died on 27/DEC/2023. Conclusions: This case report can serve clinicians, as it presents a case of an extremely rare and insidious tumor, metastatic insulinoma. Full article

The COVID-19 pandemic has intensified the challenges of balancing work and personal life for healthcare professionals, particularly nurses. In Spain, during the sixth wave of the pandemic, characterized by a high number of infections and increased healthcare pressure, these challenges became even more pronounced. This study examines how perceived stress, sociodemographic characteristics, and work-related factors influence Work–Life Balance among Spanish nurses in this context. A cross-sectional study was conducted with a sample of 305 Spanish nurses using the online Work-Life Interaction Questionnaire (SWING) and the Perceived Stress Scale (EP-10). The findings revealed that higher levels of perceived stress were associated with increased work-to-family conflict. This conflict was further intensified among nurses working rotating shifts. In the reverse direction, from life to work, perceived stress was again a significant factor, and having children contributed to increased negative life-to-work interference. On the other hand, certain variables were linked to more positive interactions. Having a paid caregiver was associated with lower positive work-to-family interaction, whereas religious beliefs were related to more positive experiences in this domain. Finally, being a woman and having children were both associated with greater positive life-to-work interaction. This study offers a vital perspective on the complex Work–Life interaction in nursing during crises, highlighting the urgent need for structural policies that alleviate stress and conflict while enhancing well-being by recognizing the protective role of family and spirituality. These findings open new avenues for designing more effective, responsive interventions for healthcare personnel. Full article

Objective: The aim of this study was to propose a pathophysiological hypothesis for the occurrence of non-traumatic chylous effusions and Central Conducting Lymphatic Anomalies (CCLAs) related to lymphatic occlusion. Methods: We investigated the case of a 39-year-old woman managed at Nîmes University Hospital for chylous anasarca related to an endoluminal lymphatic occlusion. We then conducted a comprehensive review of the literature on CCLAs. Results: Lymphatic drainage is a dynamic process. Obstacles to lymphatic drainage via the thoracic duct can lead to chylous anasarca, depending on where the obstruction is. Lymphatic occlusion seems to be an explanation for certain CCLAs. Conclusions: Understanding CCLAs via the theory of lymph occlusion opens the way to new therapeutic options, but requires further investigation in order to personalize the patient’s treatment. Full article

Given the suboptimal responses to medication and cognitive behavioral therapies in the treatment of post-traumatic stress disorder (PTSD), new approaches are needed. Background/Objectives: Therapies that include a somatic component such as Emotional Freedom Techniques (EFT) and Eye Movement Desensitization and Reprocessing (EMDR) have demonstrated efficacy in the treatment of PTSD in numerous clinical trials. This case series introduces the Trauma Reintegration Process (TRP), a psychotherapeutic process developed by the author that can be combined with somatic therapies to enhance their effectiveness, especially in patients with dissociation. Methods: This case series describes the use of TRP in combination with EFT, an energy-based somatic treatment that engages the meridian system of the body through gentle tapping on acupressure points. TRP uses EFT in combination with a focused guided imagery sequence. This case series describes the treatment of two patients: a 20-year-old woman who experienced PTSD and somatic symptoms following a serious motor vehicle accident (MVA) and a 45-year-old woman with a history of severe abuse as a child as well as adult trauma who had also been in a serious MVA. The cases contrast the way TRP can be applied in patients with single versus multiple traumas and who experience dissociation. Results: In both cases, EFT treatment stalled when the patient dissociated. After TRP was introduced, however, the EFT treatment regained momentum, leading to significant improvement in PTSD symptoms including a reduction of nightmares and flashbacks and resolution of other somatic symptoms. Conclusions: The trauma reintegration process (TRP) in combination with EFT has the potential to assist in the memory processing of patients with dissociation and complicated trauma presentation without retraumatizing the client and causing further distress or dissociation. In addition, it provides the patient with a self-empowering method to alleviate any additional traumatic sequelae. Full article

Osimertinib, a third-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI), is widely used in treating patients with EGFR-mutated non-small-cell lung cancers (NSCLCs), especially in cases with secondary resistance mutations. However, tertiary resistance mutations often arise, and there is currently no established standard of care for NSCLC harboring triple EGFR mutations. In recent years, brigatinib, an anaplastic lymphoma kinase (ALK) TKI, has shown effectiveness in treating EGFR triple-mutated NSCLC. Despite this, the combined use of osimertinib and brigatinib remains largely unstudied. This case report describes a 51-year-old woman with EGFR-mutated NSCLC who was initially treated with first- and second-generation EGFR TKIs, then switched to osimertinib upon development of an exon 20 T790M mutation. When an exon 20 C797S mutation emerged, the decision was made to add brigatinib to the osimertinib regimen. The combined treatment of osimertinib and brigatinib offers a promising new approach. Nonetheless, it is important to consider the potential risk of off-target toxicities. Full article

While the development of the Empedocles figure in the various versions of Hölderlin’s unfinished tragedy has long been the subject of scholarship, the shifts in his relationships to the women around him have largely gone unnoticed. Yet these changes are anything but subtle: in the Frankfurt Plan, Empedocles is married with children, and his wife plays a significant role in the outline of the plot; in the first draft, Empedocles is unmarried but adored by Panthea, a young Agrigentine woman; in the last draft, the figure of Panthea has been reconfigured as Empedocles’ biological sister. With each successive draft Hölderlin imposed new barriers, the crossing of which would imply sexual transgression or incest, in order to set Empedocles apart from potential sexual or erotic entanglements with the dramatis personae. But at the same time, we observe language suited for erotic settings (and used thus by Hölderlin here and in other works) being displaced to ever new objects throughout the drafts. In other words, while the author as editor of his material successively deleted or prohibited the sexual/erotic relationships of his titular hero, at the same time he allowed this fluidly metonymic, multivalent erotic language to flow, continuously redirected, throughout the entire Empedocles project. With Empedocles’ leap into Mount Etna, we find the culmination of this meandering erotic diction, imagined in the last draft as an hybristic, incestuous union with his divine parents. Full article