Disease characteristics and outcomes of acute myeloid leukemia in germline deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.

Standard: Human gastric organoids.

Organoid technology provides a transformative approach to understand human physiology and pathology, offering valuable insights for scientific research and therapeutic development. Human gastric organoids, in particular, have gained significant interest for applications in disease modeling, drug discovery, and studies of tissue regeneration and homeostasis. However, the lack of standardized quality control has limited their extensive clinical applications.

A novel viral infection in a Captive Colony of pelagic red crabs (Pleuroncodes planipes) from California.

Captive, pelagic red crabs (Pleuroncodes planipes) had shortened lifespans and cutaneous black spots. Histologically, epidermal and mesenchymal cells had 3-5 µm diameter intranuclear inclusions, necrosis, vacuolation, and/or hyperplasia. The remaining organs were histologically unremarkable.

Identification of clinicopathological-specific driver gene and genetic subtyping of colorectal cancer.

This study analyzed targeted sequencing data from 6530 tissue samples from patients with metastatic Chinese colorectal cancer (CRC) to identify low mutation frequency and subgroup-specific driver genes, using three algorithms for overall CRC as well as across different clinicopathological subgroups. We analyzed 425 cancer-related genes, identifying 101 potential driver genes, including 36 novel to CRC. Notably, some genes demonstrated subgroup specificity; for instance, ERBB4 was found as a male-specific driver gene and mutations of ERBB4 only influenced the prognosis of male patients with CRC.

Primary intrarenal hemangioma - A series of 39 cases.

Intrarenal hemangiomas lack concise clinicopathologic information, due to the predominance of single case reports and inclusion of other vascular neoplasms and hemangiomas of perirenal, hilar, and renal vein origin. Herein, in this multi-institutional study we evaluate clinicopathologic features of 39 intrarenal hemangiomas. The median age was 62 years (range = 27-94 years; 2:1 male to female ratio), with left-sided predominance (left = 21, right = 13; one case was bilateral).

Value of the combination of intraepithelial tumor-infiltrating lymphocyte density and the heterogeneity of density as a prognostic marker in stage III colorectal cancers.

Tumor-infiltrating lymphocyte (TIL) density is both a prognostic and a predictive factor in colorectal cancer (CRC). Whether the heterogeneity of TIL density across the tumor plays an important role in the clinical outcome of CRC is not well known. Adjuvant chemotherapy-treated patients with stage III CRC were analyzed for survival according to TIL density and density heterogeneity, which were determined on CD8-immunostained slides using a machine learning method and by calculating the Simpson evenness index, respectively.

Intraosseous Ganglion Protruding Into the Spinoglenoid Notch With Suprascapular Nerve Entrapment: A Case Report.

Suprascapular nerve entrapment caused by intraosseous cystic lesions is a rare condition. We present the case of a 49-year-old man with right shoulder numbness, slight infraspinatus (ISP) weakness, and shoulder pain. He underwent open surgery and arthroscopic evaluation.

Machine Learning Reveals Aneuploidy Characteristics in Cancers: The Impact of BEX4.

Background: Aneuploidy is crucial yet under-explored in cancer pathogenesis. Specifically, the involvement of brain expressed X-linked gene 4 () in microtubule formation has been identified as a potential aneuploidy mechanism. Nevertheless, 's comprehensive impact on aneuploidy incidence across different cancer types remains unexplored.

Molecular and metabolic landscape of adenosine triphosphate-induced cell death in cardiovascular disease.

The maintenance of intracellular and extracellular adenosine triphosphate (ATP) levels plays a pivotal role in cardiac function. In recent years, burgeoning attention has been directed towards ATP-induced cell death (AICD), revealing it as a distinct cellular demise pathway triggered by heightened extracellular ATP concentrations, distinguishing it from other forms of cell death such as apoptosis and necrosis. AICD is increasingly acknowledged as a critical mechanism mediating the pathogenesis and progression of various cardiovascular maladies, encompassing myocardial ischemia-reperfusion injury, sepsis-induced cardiomyopathy, hypertrophic cardiomyopathy, arrhythmia, and diabetic cardiomyopathy.

PER3 suppresses tumor metastasis of oral squamous cell carcinoma by promoting HIF-1α degradation.

The low expression of period circadian regulator 3 (PER3) in head and neck squamous cell carcinoma is closely correlated with tumor size and invasion depth. Hypoxia-inducible factor 1 subunit alpha (HIF-1α) regulates epithelial-mesenchymal transition (EMT) transcription factors, activates EMT, and promotes tumor metastasis. Here, we investigated the role and molecular mechanism of PER3 in regulating HIF-1α and metastasis in oral squamous cell carcinoma (OSCC) by using bioinformatics analyses and in vitro and in vivo experiments.

Standard: Human gastric cancer organoids.

Gastric cancer is one of the most common malignancies with poor prognosis. The use of organoids to simulate gastric cancer has rapidly developed over the past several years. Patient-derived gastric cancer organoids serve as in vitro models that closely mimics donor characteristics, offering new opportunities for both basic and applied research.

HIV, measles, and syphilis: histopathologic characteristics of lymphatic system involvement of three reemerging infectious diseases.

The resurgence of measles, syphilis, and HIV presents a significant threat to global health, especially in the wake of the COVID-19 pandemic. These three infections involve lymph nodes and have unique pathologic findings in lymph nodes. We explore the pathological and clinical characteristics of these infections, focusing on their involvement of lymph nodes and their pathologic diagnosis in lymph node specimens.

Challenges in Diagnosing Hepatic Sarcoidosis: A Case Report.

Hepatic sarcoidosis is rare, and its similarity to liver metastases complicates the diagnosis. This mimicry requires a thorough diagnostic investigations to exclude neoplasia and other granulomatous diseases, particularly tuberculosis. A 36-year-old male presented with a two-month history of right hypochondrial tenderness, anorexia, asthenia, and weight loss.

Efficacy of Wilate Prophylaxis in Reducing Nosebleeds in Patients with Severe VWD - A Post-hoc Analysis of the WIL-31 Study.

Background: Prophylaxis with a von Willebrand factor (VWF) concentrate is recommended in von Willebrand disease (VWD) patients with a history of frequent and severe bleeds. Despite nosebleeds being a frequent manifestation of VWD, few studies have investigated the efficacy of factor prophylaxis in preventing nosebleeds in patients with severe VWD.

Methods: This post-hoc analysis of a prospective, 12-month, phase 3 study assessed the efficacy of wilate in the prevention of nosebleeds in 33 patients aged ≥6 years with severe type 1, type 2 or type 3 VWD.

Primary tumor characteristics and immunohistochemical profile of renal cell carcinoma in serous fluid cytology.

Introduction: Renal cell carcinoma (RCC) involves serosal surfaces in 2%-3% of cases, and thus few papers describe serous fluid cytology (SFC) involvement by RCC. This diagnosis is challenging, given its rarity, nondescript cytomorphologic features and infrequent expression of widely used epithelial markers MOC31 and BerEP4. We describe our institutional experience with RCC in SFC specimens.

Rare primary gastric peripheral T-cell lymphoma not otherwise specified: A case report.

Background: Gastrointestinal lymphoma typically arises in the stomach, small bowel, or colorectum and is usually a B-cell lymphoma. However, primary T-cell lymphomas originating in the stomach are particularly rare. Gastric peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) is an extremely rare subtype.

Normative Ranges for Oculomotor and Reaction Time Tests in U.S. Military Service Members and Veterans.

Background:  Oculomotor and reaction time tests are frequently used assessments of vestibular symptoms, traumatic brain injury (TBI), or other neurological disorders in both clinical and research contexts. When interpreting these tests it is important to have a reference interval (RI) as a comparison for what constitutes a typical/expected response; however, the current body of research has only limited information regarding normative ranges calculated according to established standards or for a military-specific sample.

Purpose:  The purpose of the present study was to describe RIs for oculomotor and reaction time tests in a cohort of service members and veterans (SMVs) for use as comparators by clinicians and scientists.

Postautologous Hematopoietic Stem Cell Transplantation Disseminated Hypopigmented Keratosis.

Disseminated hypopigmented keratosis is a rare distinct clinical entity. This report describes the case of a 19-year-old male patient who developed disseminated hypopigmented keratosis 2 months after autologous hematopoietic stem cell transplantation for pineal choriocarcinoma. The patient displayed numerous tiny whitish or depigmented macules and papules on the chest, back, posterior neck, shoulders, arms, and thighs, closely resembling lichen nitidus.

Polyglucosan storage disease in a black-capped parrot (Pionitesmelanocephalus).

Following an episode of sudden lethargy, an 18-month-old female black-capped parrot (Pionites melanocephalus) died while being examined. On gross examination, there was fluid within the coelom, hepatomegaly with yellow colouration and the heart appeared enlarged with pallor throughout the myocardium. On histological examination, cardiomyocytes were swollen with loss of cross striations and contained 6-12-μm diameter intrasarcoplasmic pale grey inclusions of storage material.

Characterization of tumor-infiltrating lymphocytes and their spatial distribution in triple-negative breast cancer.

Background: The tumor immune microenvironment, particularly tumor-infiltrating lymphocytes (TILs), plays a critical role in disease progression and treatment response in triple-negative breast cancers (TNBCs). This study was aimed to characterize the composition of TILs and investigate their clinicopathological and prognostic significance with a special focus on the spatial distribution of TILs in TNBCs.

Methods: We analyzed TNBC samples through PanCancer Immune Profiling using NanoString nCounter assays to identify immune-related genes that are expressed differentially in relation to TIL levels and evaluated protein expression of selected markers through immunohistochemical staining on tissue microarrays.

Analysis of ASCL1/NEUROD1/POU2F3/YAP1 Yields Novel Insights for the Diagnosis of Olfactory Neuroblastoma and Identifies Sinonasal Tuft Cell-Like Carcinoma.

The diagnosis and treatment of sinonasal small round epithelial/neuroepithelial malignancies depend on the expression of conventional neuroendocrine markers (NEMs), such as synaptophysin, chromogranin A, INSM1, and CD56/NCAM1. However, these tumors remain diagnostically challenging because of overlapping histologic and immunohistochemical features. The transcriptional regulators ASCL1, NEUROD1, POU2F3, and YAP1 are novel NEM (nNEM) used for the subtyping of small-cell lung cancer (SCLC).