Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?

Von Hippel-Lindau (vHL) is a hereditary disease characterized by the development of benign and malignant tumors across multiple organ systems. It is seen in approximately 1 in 36,000 live births. Given that vHL is a rare disease, studies that seek to characterize vHL are often hampered by small sample sizes.

Microsurgical obliteration of craniocervical junction dural arteriovenous fistulas via a suboccipital median approach: a retrospective study.

Objective: The authors report on a broad range of microsurgical procedures in which the suboccipital median technique was used to treat craniocervical junction arteriovenous fistulas. Their aim was to evaluate the efficacy of the suboccipital posteromedian approach and to assess the associated clinical outcomes.

Methods: The authors extracted information on the fistula site, clinical manifestation, and structural characteristics of arterial and venous vessels by retrospectively evaluating cases from a neurointerventional database spanning 10 years.

mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review.

Background: The pre- and intra-operative diagnoses of malignant uterine vascular perivascular epithelioid cell tumors (PEComas) can be challenging, for which the literature is limited. Some cases have been shown to have TSC gene mutations or rearrangements of the MiT factor family, resulting in variable responses to mTOR inhibitors. We report a case of a TFE-positive malignant PEComa of the uterus with pulmonary metastases that responded favorably to the mTOR inhibitor, everolimus.

Multiaxial 3D MRI of the Ankle: Advanced High-Resolution Visualization of Ligaments, Tendons, and Articular Cartilage.

MRI is a valuable tool for diagnosing a broad spectrum of acute and chronic ankle disorders, including ligament tears, tendinopathy, and osteochondral lesions. Traditional two-dimensional (2D) MRI provides a high image signal and contrast of anatomic structures for accurately characterizing articular cartilage, bone marrow, synovium, ligaments, tendons, and nerves. However, 2D MRI limitations are thick slices and fixed slice orientations.

Peri-Arthroscopic Management of Immunosuppressive Medications in Patients with Rheumatic Disease A Survey of Practice Trends Among Rheumatologists and Sports Medicine Orthopedic Surgeons.

Purpose: Rheumatologists and orthopedic surgeons frequently collaborate on difficult decisions regarding perioperative management of immunosuppression in rheumatic disease patients, balancing risk of postoperative infection with risk of disease flares. Current evidence-based guidelines pertain specifically to arthroplasty, thus we sought to understand the trends and common practices regarding peri-arthroscopic use of immunosuppression.

Methods: Rheumatologists and sports medicine surgeons, from a variety of New York hospitals and serving a broad range of demographics, were surveyed on immunosuppressive medication management in rheumatic disease patients undergoing arthroscopic surgeries.

Quercetin Modulates Ferroptosis via the SIRT1/Nrf-2/HO-1 Pathway and Attenuates Cartilage Destruction in an Osteoarthritis Rat Model.

Osteoarthritis (OA) is the most common joint disease, causing symptoms such as joint pain, swelling, and deformity, which severely affect patients' quality of life. Despite advances in medical treatment, OA management remains challenging, necessitating the development of safe and effective drugs. Quercetin (QUE), a natural flavonoid widely found in fruits and vegetables, shows promise due to its broad range of pharmacological effects, particularly in various degenerative diseases.

An unexpected case of an adnexal hydatid cyst in a pregnant woman: a case report.

Background: Cystic echinococcosis, also known as hydatid disease, is a chronic and endemic illness caused by infection with a parasite called Echinococcus granulosus. In Romania, this disease has an incidence rate of 5.6 per 100,000 individuals, which is the highest in the Dobrogea region.

Blood Flow Restriction Therapy After Anterior Cruciate Ligament Reconstruction.

Anterior cruciate ligament reconstruction (ACLR) rehabilitation necessitates restoration of quadriceps strength to minimize reinjury and optimize return to sport (RTS). Patients recovering from ACLR are limited by pain and activity restrictions, resulting in quadriceps muscle atrophy. Blood flow restriction (BFR) therapy involves performing exercises while a specialized blood pressure cuff is applied to the proximal aspect of the operative extremity and inflated to 40% to 90% of the arterial occlusion pressure, as determined using Doppler ultrasonography.

Ewing Sarcoma of the Female Genital Tract: Clinicopathologic Analysis of 21 Cases With an Emphasis on the Differential Diagnosis of Gynecologic Round Cell, Spindle, and Epithelioid Neoplasms.

Ewing sarcoma is an uncommon neoplasm considered in the differential diagnosis of tumors with "small round cell" morphology, but its occurrence in the gynecologic tract has only been sporadically documented. Herein, we describe the largest cohort of Ewing sarcoma localized to the female genital tract to date, and emphasize their clinicopathologic resemblance to more common gynecologic neoplasms. Ewing sarcoma (n=21) was retrospectively identified from 5 institutions.

A Biomimetic Multifunctional Scaffold for Infectious Vertical Bone Augmentation.

The regenerative treatment of infectious vertical bone defects remains difficult and challenging today. Current clinical treatments are limited in their ability to control bacteria and infection, which is unfavorable for new bone formation and calls for a new type of material with excellent osteogenic and antibacterial properties. Here a multifunctional scaffold is synthesized that mimics natural bone nanostructures by incorporating silver nanowires into a hierarchical, intrafibrillar mineralized collagen matrix (IMC/AgNWs), to achieve the therapeutic goals of inhibiting bacterial activity and promoting infectious alveolar bone augmentation in rats and beagle dogs.

A retrospective clinical analysis of 11 cases of PEComa from different sites.

Purpose: The objective of this paper is to offer a thorough examination of the clinical presentations, etiology, and treatment strategies associated with perivascular epithelioid cell tumors (PEComas).

Methods: This retrospective study examined the comprehensive archival data of PEComa cases diagnosed at Beijing Hospital from 2015 to 2023. The pathology slides of all patients were thoroughly reassessed by two experienced pathologists.

En Bloc Resection of Sentinel Lymph Nodes with the Hysterectomy Specimen in Endometrial Cancer.

Objective: We demonstrate the surgical technique of removing the sentinel lymph nodes with its afferent lymphatic vessels attached to the hysterectomy specimen.

Design: Stepwise demonstration of the technique with narrated video footage.

Setting: Sentinel lymph node sampling has been established as an acceptable staging method in endometrial cancer cases.

Sorafenib inhibits ossification of the posterior longitudinal ligament by blocking LOXL2-mediated vascularization.

Ossification of the Posterior Longitudinal Ligament (OPLL) is a degenerative hyperostosis disease characterized by the transformation of the soft and elastic vertebral ligament into bone, resulting in limited spinal mobility and nerve compression. Employing both bulk and single-cell RNA sequencing, we elucidate the molecular characteristics, cellular components, and their evolution during the OPLL process at a single-cell resolution, and validate these findings in clinical samples. This study also uncovers the capability of ligament stem cells to exhibit endothelial cell-like phenotypes in vitro and in vivo.

Surgical treatment of a very rare case of a huge intraligamental leiomyoma of the uterus: A case report and mini‑review of the literature.

Intraligamental leiomyomas of the uterus are rare. Extremely rare are the huge intraligamental fibroids (>20 cm), whose pre-operative diagnosis and surgical management poses a challenge to everyday clinical practice. The present study describes the case of patient who was subjected to surgical treatment for a huge intraligamental leiomyoma of the uterus, which weighed 3,370 g.

Malignant female genital tract smooth muscle tumors with adipocytic differentiation: A morphologic, immunohistochemical, MDM2 fluorescence in situ hybridization and molecular genetic study of 6 lipoleiomyosarcomas.

Leiomyosarcoma with adipocytic differentiation or lipoleiomyosarcoma is an uncommon sarcoma of the female genital tract with only a few individual reports in the literature. We therefore performed a morphologic, immunohistochemical, MDM2 gene amplification and RNA and DNA sequencing analysis of a series of gynecologic lipoleiomyosarcoma to better define the clinicopathologic spectrum. Six tumors from 6 patients were identified and classified as spindled lipoleiomyosarcoma (n = 2), mixed spindled and myxoid lipoleiomyosarcoma (n = 1), epithelioid lipoleiomyosarcoma with focal myxoid features (n = 1) and mixed spindled and epithelioid lipoleiomyosarcoma (n = 2).

von Hippel-Lindau disease-related neoplasia with an emphasis on renal manifestations.

von Hippel-Lindau (VHL) disease is characterized by biallelic inactivation of the VHL gene leading to abnormal or absent VHL protein function, and constitutive activation of hypoxia-inducible factors (HIF) that leads to pro-tumorigenic signaling. Individuals with VHL disease develop numerous cysts and tumors involving multiple organs including the kidneys, central nervous system, endolymphatic sac, lungs, pancreatobiliary system, adrenal glands, epididymis, and/or broad ligament. On histologic examination, these lesions show morphologic overlap as they are frequently characterized by cells with clear cytoplasm and prominent vascularity.

Benign female genital tract smooth muscle tumors with adipocytic differentiation: A morphologic, immunohistochemical and MDM2 fluorescence in situ hybridization study of 44 conventional lipoleiomyomas and lipoleiomyoma variants.

Leiomyomas with adipocytic differentiation typically occur in the uterus although they may arise at several sites in the female genital tract. While these are most commonly spindled leiomyomas with a component of adipocytic tissue ("conventional lipoleiomyomas"), there is a relatively ill-defined assortment of leiomyoma variants with adipocytic differentiation. We performed a morphologic, immunohistochemical and MDM2 gene amplification analysis of a large series of gynecologic leiomyomas with adipocytic differentiation to better define the clinicopathologic spectrum.

Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.

Mutations and deletions in the gene or upstream of the gene encoding the POU3F4 transcription factor cause X-linked progressive deafness DFNX2 and additional neurodevelopmental disorders in humans. Hearing loss can be purely sensorineural or mixed, that is, with both conductive and sensorineural components. Affected males show anatomical abnormalities of the inner ear, which are jointly defined as incomplete partition type III.

Multiple copy number variation in a patient with Kleefstra syndrome.

Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants.

Case Description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.

Endometrial/Endometrioid Stromal Tumors With Extensive Whorling and CTNNB1 Translocation : A Report of 3 Cases.

Endometrial/endometrioid stromal tumors are rare and morphologically heterogenous, and their diagnosis may be challenging. We identified 3 endometrial/endometrioid stromal tumors with identical and previously undescribed histologic features and herein report their morphologic, immunohistochemical, and molecular profiles. Patients were 53, 62, and 79 years.

Multiaxial 3D MRI of the Ankle: Advanced High-Resolution Visualization of Ligaments, Tendons, and Articular Cartilage.

MRI is a valuable tool for diagnosing a broad spectrum of acute and chronic ankle disorders, including ligament tears, tendinopathy, and osteochondral lesions. Traditional two-dimensional (2D) MRI provides a high image signal and contrast of anatomic structures for accurately characterizing articular cartilage, bone marrow, synovium, ligaments, tendons, and nerves. However, 2D MRI limitations are thick slices and fixed slice orientations.

Pulmonary benign metastasizing uterine leiomyoma (PBML): a case report and review of the literature.

Unlabelled: Benign metastasizing leiomyoma (BML) is a rare disorder characterized by the presence of benign smooth muscle tumours in extrauterine sites, typically the lungs. It classically involves perimenopausal women with a history of uterine surgery. The condition follows an indolent course but may cause clinical symptoms with large or widespread lesions.