Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Background: Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in steroidogenesis and gonadal development. 46, XY disorder of sexual development (DSD) caused by NR5A1 mutations is a rare genetic condition. This study aimed to provide a comprehensive analysis of the clinical characteristics and molecular defects observed in 19 Chinese patients with NR5A1 variants, including assessing the deleterious effects of novel variants in vitro and evaluating their functional impact on the gonad and adrenal glands in vivo.

Correlation Analysis of Apparent Diffusion Coefficient Histogram Parameters and Clinicopathologic Features for Prognosis Prediction in Uveal Melanoma.

Purpose: To investigate the correlation between apparent diffusion coefficient (ADC) histograms and high-risk clinicopathologic features related to uveal melanoma (UM) prognosis.

Methods: This retrospective study included 53 patients with UM who underwent diffusion-weighted imaging (DWI) between August 2015 and March 2024. Axial DWI was performed with a single-shot spin-echo echo-planar imaging sequence.

Conventional and contrast-enhanced ultrasound in the differential diagnosis of recurrent dermatofibrosarcoma protuberans and postoperative scar.

Background: Dermatofibrosarcoma protuberans (DFSP) has a high recurrence rate after resection. Because of the lack of specific manifestations, recurrent DFSP is easily misdiagnosed as post-resection scar. A few series have reported ultrasound findings of recurrent DFSP; moreover, the usefulness of contrast-enhanced ultrasound in differentiating recurrent DFSP has not been studied.

High-risk histopathologic features in local advanced conjunctival melanoma.

Purpose: To identify high-risk histopathologic and molecular features of local recurrence, nodal metastasis, distant metastasis (DM) and disease-specific death (DSD) in conjunctival melanoma (CoM).

Methods: Ninety patients with pathologically diagnosed CoM between 2008 and 2023 were enrolled. Immunohistochemistry staining of BRAF, NRAS, CD117, PD-1 and PD-L1 was performed in 65 and 45 patients, respectively.

Genetic landscape and prognosis of conjunctival melanoma in Chinese patients.

Aims: Conjunctival melanoma (CoM) is a rare but highly lethal ocular melanoma and there is limited understanding of its genetic background. To update the genetic landscape of CoM, whole-exome sequencing (WES) and targeted next-generation sequencing (NGS) were performed.

Methods: Among 30 patients who were diagnosed and treated at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, from January 2018 to January 2023, WES was performed on 16 patients, while targeted NGS was conducted on 14 patients.

The pro-invasive factor COL6A2 serves as a novel prognostic marker of glioma.

Background: Glioma is an incurable malignant lesion with poor outcome characterized by easy recurrence after surgery with or without radiotherapy and chemotherapy. Studies have shown that is closely related to the tumorigenesis and development of a variety of tumors. However, the role of in glioma and the relationship between and tumor infiltrating immune cells remain unclear.

Multimodal ultrasound for preoperative evaluation of dermatofibrosarcoma protuberans: a series of 40 cases.

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare, low to intermediate-grade sarcoma, which needs imaging examination. Small series of ultrasound findings in DFSP have been published; however, the usefulness of elastography and contrast-enhanced ultrasound (CEUS) in DFSP has not been studied. We aim to study multimodal ultrasound findings and report the correlation between imagings and tiny extension in DFSP for preoperative evaluation.

A novel melanoma prognostic model based on the ferroptosis-related long non-coding RNA.

Ferroptosis is an iron-dependent programmed cell death related to the biological process of many kinds of tumors. Long noncoding RNAs ( have been found to play essential roles in the tumor, and their functions in the ferroptosis of tumor cells have been partially discovered. However, there is no summary of ferroptosis-related and its functions in melanoma.

miR-100-5p Is a Novel Biomarker That Suppresses the Proliferation, Migration, and Invasion in Skin Cutaneous Melanoma.

Objective: To better understand the role and underlying mechanisms of SKCM, we conducted bioinformatics analysis and in vivo experiments.

Results: We found its role as a tumor suppressor gene in SKCM and its effect on prognosis. In addition, this study found that miR-100-5p had a bidirectional effect on SKCM microenvironment.

Comprehensive analysis of transcriptome characteristics and identification of as a potential biomarker in dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma characterized by local invasion and recurrence. RNA sequencing (RNA-seq) allows the qualification of cellular RNA populations and provides information on the transcriptional state. However, few studies have comprehensively analyzed DFSP transcriptional data.

Cell origin and genome profile difference of penoscrotum invasive extramammary Paget disease compared with its counterpart.

Penoscrotum extramammary Paget disease (pEMPD) is a rare cutaneous carcinoma with an unknown cell origin. pEMPD always presents as a tumor with an indolent process, whereas some progress into invasive forms with more aggressive behavior. The and invasive cases display different morphologies and biological behavior, and thus far, a relationship between these two components has not been demonstrated.

A-Kinase Interacting Protein 1 Knockdown Restores Chemosensitivity Inactivating PI3K/AKT and β-Catenin Pathways in Anaplastic Thyroid Carcinoma.

Background: A-kinase interacting protein 1 (AKIP1) promotes tumor progression and chemoresistance in several malignancies; meanwhile, it is related to higher tumor size and recurrence risk of papillary thyroid carcinoma, while the role of AKIP1 in anaplastic thyroid carcinoma (ATC) is unclear. The aim of this study is to explore the effect of AKIP1 knockdown on cell malignant behaviors and doxorubicin resistance in ATC.

Methods: AKIP1 knockdown was conducted in ATC cell lines (8505C and CAL-62 cells) by siRNA; then, cell viability, apoptosis, invasion, PI3K/AKT and β-catenin pathways, and doxorubicin sensitivity were detected.

Deep learning-based fully automated differential diagnosis of eyelid basal cell and sebaceous carcinoma using whole slide images.

Background: The differential diagnosis of eyelid basal cell carcinoma (BCC) and sebaceous carcinoma (SC) is highly dependent on pathologist's experience. Herein, we proposed a fully automated differential diagnostic method, which used deep learning (DL) to accurately classify eyelid BCC and SC based on whole slide images (WSIs).

Methods: We used 116 haematoxylin and eosin (H&E)-stained sections from 116 eyelid BCC patients and 180 H&E-stained sections from 129 eyelid SC patients treated at the Shanghai Ninth People's Hospital from 2017 to 2019.

Management of Complications in 257 Cases of Breast Augmentation with Polyacrylamide Hydrogel, using Two Different Strategies: A Retrospective Study.

Background: Polyacrylamide hydrogel (PAAG) has been used globally for breast augmentation, leading to long-term clinical complications. However, whether the infiltrated fibrotic capsule should be removed with PAAG to alleviate the complications remains unclear. This study aimed to ascertain different causes of complications and proper management strategies for PAAG removal in augmented breasts.

A New Method for the Sputum Cytology Test Without Direct Contact to Specimens During COVID-19 Pandemic.

Background: Coronavirus disease 2019 (COVID-19) pandemic continues to spread across the world. Specimens of blood, body fluids and excreta received in the department of pathology undoubtedly increased the risk of infection, especially in some hospitals that are short of professional protection capability. Here we provided a new simple way for the sputum cytology test during the COVID-19 pandemic.

Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.

Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies are the most severe complications.

Nail matrix scars that result in nail dystrophy resemble cutaneous scars: A new nail trauma model.

Background: Few studies have described how the injury affects the nail soft tissue under the nail plate. Nail matrix scar is poorly known.

Objective: To establish a stable rat nail loss model in a simple way, and to discuss the comparability of this model.

DNase I-assisted 2'-O-methyl molecular beacon for amplified detection of tumor exosomal microRNA-21.

An end-modified 2'-O-methyl molecular beacon (eMB) with unique nuclease resistance was designed and prepared. The eMB can resist the enzymatic digestion by DNase I, which would otherwise occur upon the hybridization of the eMB with a complementary sequence. As a result, the coupling use of eMBs and DNase I allows highly sensitive detection of miRNA with a limit of detection (LOD) of 2.

Clinical and pathological risk factors for worse stage and mortality of eyelid and periocular squamous cell carcinoma.

Background: The clinical and pathological risk factors for worse T stage and prognosis in eyelid and periocular squamous cell carcinomas (SCCs) remain unclear. P63 was reported to predict a worse prognosis in other SCCs; however, this correlation was not validated in eyelid and periocular SCCs.

Methods: We reported on a retrospective case series of 85 consecutive patients with eyelid and periocular SCCs from 1995 to 2019.

Characteristic appearance of spindle cell hemangiomatosis, often misdiagnosed as venous malformation: A retrospective study of 11 cases.

Spindle cell hemangiomatosis is a benign multifocal vascular proliferation that mostly occurs in the distal extremities. It is a relatively rare disease and causes difficulties in clinical diagnosis and differential diagnosis of venous malformation. We retrospectively assessed the medical history, and clinical features, imaging features, pathological features and follow up of 11 patients diagnosed pathologically with spindle cell hemangiomatosis after surgery.

Comparative Effectiveness of 755-nm Picosecond Laser, 755- and 532-nm Nanosecond Lasers for Treatment of Café-au-Lait Macules (CALMs): A Randomized, Split-Lesion Clinical Trial.

Background And Objectives: Many types of lasers have been used to treat café-au-lait macules (CALMs) since the introduction of the selective photothermolysis theory. However, the efficacy and safety of picosecond lasers, compared with those of nanosecond lasers, have not been researched. To compare the efficacy and safety of 755 nm picosecond laser (PS-755 nm), Q-switched (QS) Alexandrite 755 nm nanosecond laser (QS-755 nm), and QS Nd:YAG 532 nm nanosecond laser (QS-532 nm) for treating CALMs.

Rivaroxaban ameliorates angiotensin II-induced cardiac remodeling by attenuating TXNIP/Trx2 interaction in KKAy mice.

As an anticoagulant, Rivaroxaban has recently been reported to be protective in cardiac injury. Based on those previous research results, we detected the roles of Rivaroxaban in Angiotensin II (AngII)-induced cardiac remodeling with KKAy mice and unraveled the underlying mechanisms. Rivaroxaban inhibited cardiac fibrosis and hypertrophy in AngII-infused KKAy mice.

MiR-4458/human antigen R (HuR) modulates PBX3 mRNA stability in melanoma tumorigenesis.

Melanoma, a malignancy of the melanocyte, is characterized as the most fatal skin cancer with an increasing incidence. Of note, in spite of great attempts made for better treatment, the therapeutic outcome is barely satisfactory. Abnormal expression of microRNAs (miRNAs) acting as oncogenes or tumor suppressor genes, is frequently implicated in multiple human cancers, including melanoma.