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Cureus Apr 2024Endometriosis is a chronic benign inflammatory disease that affects women of reproductive age. The clinical presentations of endometriosis include dysmenorrhea,... (Review)
Review
Endometriosis is a chronic benign inflammatory disease that affects women of reproductive age. The clinical presentations of endometriosis include dysmenorrhea, dyspareunia, chronic pelvic pain, and infertility. There is a well-established association between endometriosis and infertility. Therefore, there is a need for an early diagnosis of endometriosis-related infertility. In this study, we aim to identify the role of biomarkers as predictive factors of the presence of the disease and its severity and their correlation with the pregnancy outcome. We performed an electronic database search of all published studies in PubMed and EMBASE from January 2018 to May 2023. Numerous innovative biomarkers identified in cases of endometriosis and infertility have been studied over the past years, including micro-RNAs, BCL6 endometrial expression, cytotoxic T-lymphocyte antigen 4, human leukocyte antigen G, programmed cell death protein 1, programmed cell death ligand 1 immune checkpoint molecules, plasma fibronectin-fibrin complexes, homeobox A10 gene, systemic inflammatory response markers, uterine natural killer cells, and the eutopic endometrium proteome. Considerable research has been done to identify diagnostic biomarkers for the early detection and prevention of endometriosis-associated infertility. However, none of these biomarkers displayed enough diagnostic accuracy to be used in daily clinical practice. Future research is valuable to establish them as reliable diagnostic tools.
PubMed: 38813329
DOI: 10.7759/cureus.59288 -
Frontiers in Oncology 2024Accurate and rapid discrimination between benign and malignant ovarian masses is crucial for optimal patient management. This study aimed to establish an ultrasound...
BACKGROUND
Accurate and rapid discrimination between benign and malignant ovarian masses is crucial for optimal patient management. This study aimed to establish an ultrasound image-based nomogram combining clinical, radiomics, and deep transfer learning features to automatically classify the ovarian masses into low risk and intermediate-high risk of malignancy lesions according to the Ovarian- Adnexal Reporting and Data System (O-RADS).
METHODS
The ultrasound images of 1,080 patients with 1,080 ovarian masses were included. The training cohort consisting of 683 patients was collected at the South China Hospital of Shenzhen University, and the test cohort consisting of 397 patients was collected at the Shenzhen University General Hospital. The workflow included image segmentation, feature extraction, feature selection, and model construction.
RESULTS
The pre-trained Resnet-101 model achieved the best performance. Among the different mono-modal features and fusion feature models, nomogram achieved the highest level of diagnostic performance (AUC: 0.930, accuracy: 84.9%, sensitivity: 93.5%, specificity: 81.7%, PPV: 65.4%, NPV: 97.1%, precision: 65.4%). The diagnostic indices of the nomogram were higher than those of junior radiologists, and the diagnostic indices of junior radiologists significantly improved with the assistance of the model. The calibration curves showed good agreement between the prediction of nomogram and actual classification of ovarian masses. The decision curve analysis showed that the nomogram was clinically useful.
CONCLUSION
This model exhibited a satisfactory diagnostic performance compared to junior radiologists. It has the potential to improve the level of expertise of junior radiologists and provide a fast and effective method for ovarian cancer screening.
PubMed: 38812784
DOI: 10.3389/fonc.2024.1377489 -
Dermatology Practical & Conceptual Apr 2024Pilomatricoma is a benign adnexal dermal or subcutaneous tumor derived from immature hair matrix cells. (Review)
Review
INTRODUCTION
Pilomatricoma is a benign adnexal dermal or subcutaneous tumor derived from immature hair matrix cells.
OBJECTIVES
The aim of our study is to evaluate clinical and dermoscopic features of pilomatricomas, with a specific focus on pediatric lesions, and to provide a concise review of the existing literature.
METHODS
A single-center retrospective study was undertaken on 55 patients with a histopathological diagnosis of pilomatricoma referred to the Dermatology Unit, University of Bologna, Bologna, Italy, between 2005 and 2023. Pilomatricomas were retrospectively evaluated relying on clinical and dermoscopic images. A PubMed search was conducted. All the relevant research up to July 31, 2023, was reviewed. We classified the cases as "typical" or "atypical" based on whether they were suspected of being pilomatricomas or not.
RESULTS
A total of 55 children with pilomatricomas were observed and studied. Two patients presented with 2 pilomatricomas, leading to the identification of 58 pilomatricomas. 'Typical' pilomatricomas were observed in 79% of cases as nodular and pigmented lesions with one or more colors, ranging from blue-gray to red to yellow/white, evident on clinical examination and even better on dermoscopy. In 21% of cases, pilomatricomas presented in an 'atypical' form, which did not allow for a well-founded suspicion, placing them in differential diagnosis with other lesions and therefore requiring histological examination.
CONCLUSIONS
According to our case series and systematic review of the literature, clinical appearance and dermoscopy may be sufficient to diagnose or suspect pilomatricoma in around 80% of cases, while histological examination is necessary to confirm the diagnosis in the remaining 20% of cases.
PubMed: 38810027
DOI: 10.5826/dpc.1402a140 -
Cureus Apr 2024A 38-year-old nulliparous woman with severe obesity (BMI 66) and hypertension presented with constipation, fatigue, weakness, and poor appetite that had progressively...
A 38-year-old nulliparous woman with severe obesity (BMI 66) and hypertension presented with constipation, fatigue, weakness, and poor appetite that had progressively worsened over the prior two to three weeks. Upon admission, the patient was found to have significant hypercalcemia, leukocytosis, and lactic acidosis. Computed tomography (CT) scan of the chest, abdomen, and pelvis revealed an adnexal mass with extensive lesions throughout her pelvis, abdomen, and chest. An ultrasound-guided omental core biopsy was performed, which was confirmatory for metastatic ovarian small cell carcinoma. Given her poor prognosis and clinical status, chemotherapy was likely to provide minimal benefit and ultimately the patient decided to pursue a comfort-oriented plan of care and passed away on day 9 of admission.
PubMed: 38807834
DOI: 10.7759/cureus.59214 -
Journal of Family & Reproductive Health Dec 2023Malignant transformation in dermoid cysts is rare, and Squamous Cell Carcinoma (SCC) is the most common form. This event often occurs in large tumors and middle-aged...
OBJECTIVE
Malignant transformation in dermoid cysts is rare, and Squamous Cell Carcinoma (SCC) is the most common form. This event often occurs in large tumors and middle-aged women.
CASE REPORT
In this study, two cases are presented. They were menopause, and abdominal pain and adnexal mass was a common manifestation in both. Case 1 with adenocarcinoma arising in mature cystic teratoma had abnormal tumor markers and was diagnosed with a frozen section during surgery, but case 2 with SCC transformation had normal tumor markers, and the frozen section was not helpful in the first surgery. Both underwent complete staging surgery, and due to stage IC1 in case 1, she received chemotherapy, and in case 2, no adjuvant treatment was needed because of stage IA.
CONCLUSION
Considering the rarity of malignant transformation in the dermoid cyst, the best surgical approach and adjuvant therapy indications need further research.
PubMed: 38807623
DOI: 10.18502/jfrh.v17i4.14599 -
Pediatric Quality & Safety 2024Adnexal torsion is an emergent surgical condition. Transabdominal pelvic ultrasound (US) with ovarian Doppler is used to diagnose adnexal torsion and requires a...
INTRODUCTION
Adnexal torsion is an emergent surgical condition. Transabdominal pelvic ultrasound (US) with ovarian Doppler is used to diagnose adnexal torsion and requires a sufficient bladder volume. Reduce the turnaround time for US by 25% in girls 8-18 years of age who present to the emergency department (ED) for 24 months.
METHODS
Our baseline period was from January 2020 to June 2021, and the intervention period was from July 2021 to June 2023. Patients 8-18 years old who required an US in the ED were included. There are two key drivers: early identification of US readiness and expeditious bladder filling. Interventions were (1) bladder volume screening; (2) utilization of bladder volume nomogram to identify US readiness; (3) epic order panels; and (4) rapid intravenous fluid method. The primary outcome was US turnaround time. Secondary outcomes were percentage of patients requiring invasive interventions to fill the bladder and patients with an US study duration of ≤45 minutes. The percent of patients screened by bladder scan was used as a process measure. Balancing measures used episodes of fluid overload and ED length of stay.
RESULTS
Turnaround time for USs improved from 112.4 to 101.6 minutes. The percentage of patients who had successful USs without invasive bladder filling improved from 32.1% to 42.6%. Bladder volume screening using a bladder scan increased from 40.3% to 82.9%. The successful first-pass US completion rate improved from 77% to 90% consistently.
CONCLUSIONS
Through quality improvement methodology, we have identified pelvic US readiness earlier, eliminated some invasive bladder-filling measures, and implemented a rapid fluid protocol. We have sustained these successful results for 2 years. This study can be generalized to any ED with similar patients.
PubMed: 38807584
DOI: 10.1097/pq9.0000000000000730 -
International Journal of Women's Health 2024To report a rare case of spontaneous ectopic pregnancy (EP) after partial salpingectomy treated by laparoscopy.
OBJECTIVE
To report a rare case of spontaneous ectopic pregnancy (EP) after partial salpingectomy treated by laparoscopy.
CASE REPORT
A 30-year-old gravida 1 para 0 woman with a history of left adnexectomy, due to left ovarian torsion 13 years ago, was referred to our hospital. She had experienced lower abdominal pain for 1 day and amenorrhea for 1 week. Transvaginal ultrasonography did not reveal an intrauterine pregnancy, but showed a suspected extrauterine gestational sac on the left adnexal area. The patient was diagnosed with ectopic pregnancy, and laparoscopy was performed. During the operation, we found a gestational sac on the left fallopian tube stump.
CONCLUSION
The most significant risk factors for ectopic pregnancy (EP) are previous procedures and conditions that cause tubal injury. Therefore, it is necessary to be alert to the occurrence of the disease even if there is a history of tubal resection and ensure no part of the fallopian tube is left behind during removal.
PubMed: 38803341
DOI: 10.2147/IJWH.S455616 -
BMC Medical Genomics May 2024Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the... (Review)
Review
BACKGROUND
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). It is considered a hereditary renal cancer syndrome despite the low incidence of RCC in TSC patients. TSC is typically diagnosed in prenatal and pediatric patients and frequently associated with neurocognitive disorders and seizures, which are often experienced early in life. However, penetrance and expressivity of TSC mutations are highly variable. Herein, we present a case report, with associated literature, to highlight that there exist undiagnosed adult patients with less penetrant features, whose clinical presentation may contain non-classical signs and symptoms, who have pathogenic TSC mutations.
CASE PRESENTATION
A 31-year-old female with past medical history of leiomyomas status post myomectomy presented to the emergency department for a hemorrhagic adnexal cyst. Imaging incidentally identified a renal mass suspicious for RCC. Out of concern for hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, the mass was surgically removed and confirmed as RCC. Discussion with medical genetics ascertained a family history of kidney cancer and nephrectomy procedures and a patient history of ungual fibromas on the toes. Genetic testing for hereditary kidney cancer revealed a 5'UTR deletion in the TSC1 gene, leading to a diagnosis of TSC. Following the diagnosis, dermatology found benign skin findings consistent with TSC. About six months after the incidental finding of RCC, a PNET in the pancreatic body/tail was incidentally found on chest CT imaging, which was removed and determined to be a well-differentiated PNET. Later, a brain MRI revealed two small cortical tubers, one in each frontal lobe, that were asymptomatic; the patient's history and family history did not contain seizures or learning delays. The patient presently shows no evidence of recurrence or metastatic disease, and no additional malignant tumors have been identified.
CONCLUSIONS
To our knowledge, this is the first report in the literature of a TSC patient without a history of neurocognitive disorders with RCC and PNET, both independently rare occurrences in TSC. The patient had a strong family history of renal disease, including RCC, and had several other clinical manifestations of TSC, including skin and brain findings. The incidental finding and surgical removal of RCC prompted the genetic evaluation and diagnosis of TSC, leading to a comparably late diagnosis for this patient. Reporting the broad spectrum of disease for TSC, including more malignant phenotypes such as the one seen in our patient, can help healthcare providers better identify patients who need genetic evaluation and additional medical care.
Topics: Humans; Tuberous Sclerosis; Female; Adult; Kidney Neoplasms; Carcinoma, Renal Cell; Tuberous Sclerosis Complex 2 Protein; Tuberous Sclerosis Complex 1 Protein; Mutation
PubMed: 38802873
DOI: 10.1186/s12920-024-01913-8 -
Gynecologic Oncology Reports Jun 2024Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking...
BACKGROUND
Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking malignancies on imaging, presenting diagnostic challenges.
CASE PRESENTATION
A 31-year-old nulliparous woman presented with symptoms of bloating, cramping, and abdominal distension. Imaging suggested an advanced ovarian malignancy, showing a complex adnexal mass and elevated CA-125 levels. During exploratory laparotomy, what was suspected to be ovarian cancer was instead identified as a large uterine mass on pathologic evaluation revealing a benign leiomyoma with extensive hydropic change.
CONCLUSION
This case highlights the diagnostic intricacies associated with large complex adnexal masses and illustrates how benign conditions like leiomyomas with hydropic degeneration can mimic ovarian cancer. This emphasizes the importance of comprehensive preoperative and intraoperative assessments to tailor management and avoid unindicated radical procedures.
PubMed: 38798949
DOI: 10.1016/j.gore.2024.101415 -
Scientific Reports May 2024Objectives were to assess differences in uterine microbiome associated with clinical cure and pregnancy outcomes in dairy cows treated for metritis. Cows with metritis...
Objectives were to assess differences in uterine microbiome associated with clinical cure and pregnancy outcomes in dairy cows treated for metritis. Cows with metritis (reddish-brownish, watery, and fetid vaginal discharge) were paired with cows without metritis based on parity and days postpartum. Uterine contents were collected through transcervical lavage at diagnosis, five days later following antimicrobial therapy (day 5), and at 40 days postpartum. Uterine microbiome was assessed by sequencing the V4 hypervariable region of the 16S rRNA gene. Although alpha-diversity based on Chao1, Shannon, and inverse Simpson indexes at diagnosis did not differ between cows with and without metritis, disease was associated with differences in beta-diversity. Prevalence of Porphyromonas, Bacteroides, and Veillonella was greater in cows with metritis. Streptococcus, Sphingomonas, and Ureaplasma were more prevalent in cows without metritis. Differences in beta-diversity between cows with and without metritis persisted on day 5. Uterine microbiome was not associated with clinical cure. Richness and alpha-diversity, but not beta-diversity, of uterine microbiome 40 days postpartum were associated with metritis and pregnancy. No relationship between uterine microbiome and pregnancy outcomes was observed. Results indicate that factors other than changes in intrauterine bacterial community underlie fertility loss and clinical cure in cows with metritis.
Topics: Female; Animals; Cattle; Pregnancy; Uterus; Microbiota; Pregnancy Outcome; Endometritis; Cattle Diseases; RNA, Ribosomal, 16S; Bacteria
PubMed: 38789554
DOI: 10.1038/s41598-024-61704-0