Search Results (11)

Background and Clinical Significance: Brugada syndrome (BrS) is a rare inherited cardiac channelopathy, often associated with SCN5A loss-of-function mutations. Clinical presentations range from asymptomatic to malignant arrhythmias and sudden cardiac death. Physiological and pharmacological stressors affecting sodium channel function—such as pyrexia, certain medications, and possibly pregnancy—may unmask or exacerbate arrhythmic risk. However, there is limited information regarding pregnancy and obstetric outcomes. Obstetric management remains largely informed by isolated case reports and small case series. A literature review was conducted using OVID Medline and Embase, identifying case reports, case series, and one retrospective cohort study reporting clinical presentation, obstetric management, and outcomes in maternal BrS. A case is presented detailing coordinated multidisciplinary input, antenatal surveillance, and intrapartum and postpartum care to contribute to the growing evidence base guiding obstetric care in this complex setting. Case Presentation: A 30-year-old G2P0 woman with asymptomatic BrS (SCN5A-positive) was referred at 31 + 5 weeks’ gestation for multidisciplinary antenatal care. Regular review and collaborative planning involving cardiology, anaesthetics, maternal–fetal medicine, and obstetrics guided a plan for vaginal delivery with continuous cardiac and fetal monitoring. At 38 + 0 weeks, the woman presented with spontaneous rupture of membranes and underwent induction of labour. A normal vaginal delivery was achieved without arrhythmic events. Epidural block with ropivacaine and local anaesthesia with lignocaine were well tolerated, and 24 h postpartum monitoring revealed no abnormalities. Conclusions: This case adds to the limited but growing literature suggesting that with individualised planning and multidisciplinary care, pregnancies in women with BrS can proceed safely and without complication. Ongoing case reporting is essential to inform future guidelines and optimise maternal and fetal outcomes. Full article

Background and Clinical Significance: A paratubal cyst, which makes up about 10% of all adnexal masses, is a specific type of adnexal cyst that develops from the mesothelium in the broad ligament located between the fallopian tube and the ovary. Interestingly, the majority of paratubal cyst cases are initially misidentified as ovarian cysts, with suspicion arising in only 1 out of every 15 patients before undergoing surgery. Case Presentation: We report a case of a giant paratubal cyst mimicking an ovarian cyst in a 21-year-old woman supported by some representative images along with a literature review. The cyst’s therapeutic management was surgical removal of the adnexa and the final postoperative histopathological diagnosis was that of a benign paratubal cyst. Conclusions: This case highlights the need to include a paratubal cyst in the differential diagnosis of pelvic masses, especially in women of reproductive age. To the best of our knowledge, this represents the largest paratubal cyst reported in the literature to date, based on overall dimensions and the highest recorded volume of aspirated fluid, successfully managed via laparoscopy. A further notable aspect of this case is the coexistence of the giant paratubal cyst with an ovarian mucinous cystadenoma. Full article

Background and Clinical Significance: Brenner tumors are rare epithelial tumors that can occur in both males and females. They consist of ovarian transition cells surrounded by dense fibrous tissue and can be classified as benign, borderline, or malignant. While most commonly found in the ovary, extraovarian Brenner tumors (EOBTs) have been reported in the uterus, vagina, broad ligament, and omentum. Case Presentation: A 71-year-old postmenopausal woman presented with a polypous formation on the upper third of the posterior vaginal wall, which was found at a routine health check. Macroscopically, the lesion appeared as a solid, polypoid mass with a yellowish-gray cut surface, measuring approximately 25 × 20 mm. Histological examination revealed a polypoid formation covered by stratified squamous epithelium, with a dense fibrous stroma (Van Gieson [VG]+) and tubular structures lined by clear epithelial cells. Parenchymal cells showed low proliferative activity, with Ki-67 expression in less than 5% of cells, also Cytokeratin (CK) 7/+/p63:/+/ CK AE1/AE3: /+/ Estrogen Receptor (ER): /+/ and Progesterone Receptor (PR)/−/; CK20/-/; p53/−/, Wilms’ Tumor (WT)-1/−/; Prostate-Specific Acid Phosphatase (PSAP)/−/. The final diagnosis was an extraovarian Brenner tumor. The patient was monitored for two months post-excision, with no signs of recurrence. Conclusions: EOBTs are extremely rarely seen and vaginal involvement is far less common. Due to their rarity, these tumors may be confused with other benign or malignant vaginal lesions. In order to differentiate EOBTs from other neoplasms, histological analysis is crucial due to their characteristic transitional-type epithelium and large fibrous stroma. Further studies are required to understand the origin and clinical behavior of EOBTs. Long-term monitoring should be performed to look for any recurrence or malignant change, even though benign Brenner tumors usually have a good prognosis. Awareness of EOBTs and their possible locations is essential for accurate diagnosis and appropriate management. Full article

Background and Clinical Significance: Uterine fibroids affect up to 25% of women of reproductive age and can lead to significant symptoms or impact fertility, often requiring surgical management. While hysteroscopic myomectomy is suitable for intracavitary fibroids, intramural and subserosal fibroids typically necessitate open or minimally invasive surgery (MIS). Laparoscopic approaches offer notable advantages, including reduced postoperative pain and faster recovery. However, MIS is frequently avoided in cases of very large fibroids due to technical difficulty and concerns about safe tissue extraction. Power morcellation, previously used for specimen removal, has fallen out of favor due to the risk of disseminating occult malignancies, especially in women over 35. Therefore, establishing the feasibility of MIS without morcellation in such cases is essential. Case Presentation: A woman of reproductive age presented with a symptomatic uterine fibroid measuring approximately 4 kg (1500 cm³). Laparoscopic myomectomy was performed using a modified trocar entry technique and contained tissue fragmentation, avoiding morcellation. The operation was completed successfully without complications. Postoperative recovery was uneventful, and the patient was discharged on postoperative day two. Histopathological examination confirmed a benign leiomyoma. Conclusions: This case highlights the feasibility of laparoscopic removal of an exceptionally large uterine fibroid without morcellation. Through careful patient selection, strategic trocar placement, and controlled tissue fragmentation, MIS can be safely performed in select high-volume cases. These findings support reconsidering the size limitations of laparoscopic myomectomy when conducted by experienced surgeons using appropriate techniques. Full article

Background and Clinical Significance: Polycystic kidney disease (PKD) is the most common inherited kidney condition, affecting approximately 500,000 individuals in the US. It causes fluid-filled cysts to develop throughout the kidneys, leading to decreased kidney function. Autosomal dominant polycystic kidney disease (ADPKD) is the more prevalent form, subdivided into the PKD1 and PKD2 variants. PKD1 variants typically result in more severe symptoms and an earlier need for dialysis compared to PKD2. A prenatal diagnosis of ADPKD is rare due to its late-onset manifestations, but early detection can be crucial for management and family counseling. Case Presentation: A 24-year-old woman, during her first pregnancy, presented for her first prenatal ultrasound at 22 + 2 weeks gestation. The ultrasound revealed an increased echogenicity of the renal parenchyma in the left kidney, with pelvic dystopia, while the right kidney appeared normal. Follow-up scans showed significant progression, with both kidneys exhibiting thinning parenchyma and cyst formation. The baby was delivered via an elective cesarean section at 38 weeks, and a postnatal ultrasound confirmed ADPKD. Genetic testing identified a heterozygous variant of the PKD1 gene, NM_001009944.3 (PKD1):c.9157G>A p.(Ala3053Thr), classified as likely pathogenic. The baby displayed electrolyte abnormalities but improved after a week of hospitalization. Conclusions: This case highlights an unusual early presentation of ADPKD in a fetus with no family history of the disease. A prenatal diagnosis through ultrasounds and genetic testing can aid in early detection and management, providing valuable information for family counseling. Regular monitoring and genetic identification are essential for managing ADPKD and improving patient outcomes. Full article

Background and Clinical Significance: A vesicocervical fistula is an abnormal connection between the urinary tract and the cervix. With the increased prevalence of cesarean sections in recent years, the incidence of vesicocervical fistulas has also increased. The objective of this study was to evaluate the available evidence regarding the laparoscopic approach and to present a case study of a patient who underwent minimally invasive repair of a vesicocervical fistula after vacuum delivery. Case Presentation: A 32-year-old mother was admitted to our center with symptoms of urine leakage through the cervix uteri 5 days after vacuum-assisted delivery. In particular, the patient had recently undergone a vacuum-assisted delivery and cesarean section. A positive methylene blue staining test and transvaginal ultrasonography demonstrated an anatomical connection between the bladder and the cervix. Surgical repair of the vesicocervical fistula was performed under general anesthesia and a Foley catheter was inserted for 7 days. Urodynamic studies conducted seven days postoperative and six weeks post-surgery showed normal bladder function and capacity. Conclusions: Early detection and surgical correction of vesicocervical fistulas using a minimally invasive approach is crucial for the treatment of this condition. This case report emphasizes the importance of considering vesicocervical fistulas, particularly in patients with a history of cesarean section who have undergone vacuum-assisted delivery. Full article

Background and Clinical Significance: The purpose of this report is to investigate the feasibility of combined modality treatment in a case of locally advanced cervical cancer in a patient with inherited epidermolysis bullosa as well as to suggest a protocol for cervical electronic brachytherapy. Case Description: The patient was treated with image-guided external beam radiotherapy and concomitant chemotherapy to a dose of 45 Gy in 25 fractions with a simultaneously integrated boost of 55 Gy in involved lymph nodes. The maximal skin dose was 34.09 Gy. Intracavitary electronic brachytherapy was applied to the uterine cervix in 4 fractions of 7 Gy and contributed no dose to the skin. Discussion: The treatment was tolerated well with no early toxicity. During the 3-month period of follow-up, no adverse events of grade 2 or higher were detected, and no exacerbation of skin lesions was noted. Conclusions: This is the first report of treatment of cervical cancer in a patient with inherited epidermolysis bullosa where combined concurrent chemoradiotherapy and intracavitary electronic brachytherapy demonstrated feasibility and safety. The followed institutional protocol for treatment planning and delivery ensured low doses to organs and risk and reproducibility. Full article

Background and Clinical Significance: Voriconazole is a commonly prescribed second-generation azole used for the prevention and treatment of fungal infections. This report seeks to elucidate the relationship between certain intravenous infusion parameters and the causality and severity of potential visual adverse events associated with voriconazole administration, despite existing reports of visual disturbances such as hallucinations and altered visual perception, the underlying causes of which remain inadequately understood. Case Presentation: This case report describes a 32-year-old female patient who experienced sudden hallucinations and visual impairments after receiving an initial dose of intravenous voriconazole for the treatment of recurrent severe vulvovaginitis caused by Candida glabrata. The symptoms quickly disappeared when the dosage and infusion rate were reduced as per the recommendations of the clinical pharmacist. Conclusions: This example emphasizes the possible negative drug responses linked to voriconazole, especially those provoked by its irrational use described as an inappropriate infusion rate, and the crucial role of clinical pharmacists in recognizing and handling these reactions. Full article

Background: Persistent alterations in taste and smell affect a significant proportion of individuals following COVID-19, representing a component of post-acute COVID-19 syndrome, commonly referred to as long COVID. The degradation of sphingomyelin by acid sphingomyelinase is regarded as a biomarker for acquired demyelinating neuropathies. Objectives: This study was aimed to enroll women who contracted COVID-19 during pregnancy and experienced persistent alterations in taste and/or smell for more than 1 year post-infection, in comparison to pregnant women without any disturbances in these senses. Methods: The patients were subjected to a questionnaire investigating smell and taste disorders more than 1 year after the infection. Then, the levels of acid sphingomyelinase in the plasma of the participants were assessed. Results: The results showed that in women who had been pregnant and who had been infected with SARS Cov-2 during the COVID period and who still had taste and smell disorders 1 year later, plasma acid sphingomyelinase levels were double that of pregnant women who had contracted the infection during the COVID period but had not reported taste and smell disorders and that of pregnant women analyzed after the COVID period. Conclusions: The results suggest a hypothesis that the persistence of sensory disturbances in long COVID was probably due to a failure to utilize brain circuitry with demyelination resulting from chemosensory dysfunction of the olfactory epithelium. Full article

Background and Clinical Significance: Abnormal uterine bleeding during the postmenopausal years is a pathological sign that may be due to simultaneous intrauterine and ovarian pathology. Granulosa cell tumours of the ovary are malignant neoplasms producing oestradiol, which leads to the abnormal proliferation of the endometrium, precancerous lesions, and endometrial carcinoma type I. Case Presentation: The authors present a clinical case of a 67-year-old woman with postmenopausal bleeding who underwent a total abdominal hysterectomy with bilateral adnexectomy, pelvic lymphadenectomy, and partial omentectomy. The histopathological examination showed a granulosa cell adult-type ovarian tumour and a malignant endometrial polyp with atypical hyperplasia of the endometrium. Conclusions: The immunohistochemical analysis of the malignant endometrial polyp confirmed the expression of oestrogen, progesterone receptors, and the biomarker Ki-67. Full article

Familial hypercholesterolemia, a genetic disorder marked by elevated low-density lipoprotein cholesterol (LDL-C), poses significant risks for premature atherosclerosis and cardiovascular diseases, particularly during pregnancy. One of the safe methods of treating this condition in pregnancy is with the use of LDL apheresis. We present a 38-year-old primigravida with homozygous Familial Hypercholesterolemia (HoFH), ischemic cardiomyopathy, and angina pectoris. Two years before conception, extremely elevated lipid levels prompted statin therapy and lifestyle changes. Stent placements followed acute myocardial infarction. When planning pregnancy, statins were discontinued, but lipid levels elevated. LDL apheresis was initiated, achieving a 60% reduction. Throughout pregnancy, 16 LDL apheresis sessions were performed every 14 days, maintaining optimal lipid profiles. A cesarean section was performed in the 38th week of gestation, delivering a healthy infant. The patient resumed statin therapy after 8 months of breastfeeding. The patient maintained cardiovascular health, demonstrating the feasibility of controlled HoFH pregnancies. This case highlights the successful management of HoFH during pregnancy using LDL apheresis, ensuring maternal and fetal well-being. Future research on novel treatments and their safety during pregnancy is essential for refining therapeutic approaches in similar cases. Full article