Specialist referrals and diagnostic delays in motor neurone disease: Mapping patients' journey through hoops and hurdles in healthcare.

Motor neuron disease (MND) is an uncommon but invariably fatal condition, with a median survival of 24-48 months from symptom onset. Although there is no cure at the moment, early diagnosis is crucial to enable timely access to multidisciplinary care, and enrolment in clinical trials utilising investigational therapies. Unfortunately, diagnostic delays remain common, and the average delay between symptom onset and diagnosis is 12 months.

Ectopic cervical thymoma in myasthenia gravis: a case report.

Background: Ectopic cervical thymoma (ECT) is an extremely rare tumor, especially in association with myasthenia gravis (MG).

Case Presentation: We report a case of myasthenia gravis with an ectopic thymoma in the neck, whose myasthenic symptoms significantly improved after complete removal of the mass. A 55-year-old woman with generalized myasthenia gravis (MG) experienced worsening neuromuscular weakness after abruptly discontinuing pyridostigmine.

Erdheim-Chester Disease: Investigating the Correlation between Targeted Treatment Therapy and Disease Outcomes.

A retrospective analysis of 20 adult patients with histopathological and clinical diagnoses of ECD was conducted at a single institution over a twenty-year period (2002-2022). Clinical responses were compared on the basis of treatments rendered, which included chemotherapy, immunotherapy, systemic corticosteroids, surgery and radiation, or targeted agents, referring to any small molecular inhibitors. Treatment response evaluation varied by the anatomic site(s) of disease, the extent of disease at diagnosis, and the imaging modality employed.

Tumor microenvironment deconvolution identifies cell-type-independent aberrant DNA methylation and gene expression in prostate cancer.

Background: Among men, prostate cancer (PCa) is the second most common cancer and the second leading cause of cancer death. Etiologic factors associated with both prostate carcinogenesis and somatic alterations in tumors are incompletely understood. While genetic variants associated with PCa have been identified, epigenetic alterations in PCa are relatively understudied.

Deciphering the role of immune cell composition in epigenetic age acceleration: Insights from cell-type deconvolution applied to human blood epigenetic clocks.

Aging is a significant risk factor for various human disorders, and DNA methylation clocks have emerged as powerful tools for estimating biological age and predicting health-related outcomes. Methylation data from blood DNA has been a focus of more recently developed DNA methylation clocks. However, the impact of immune cell composition on epigenetic age acceleration (EAA) remains unclear as only some clocks incorporate partial cell type composition information when analyzing EAA.

Detailed immune profiling in pediatric Crohn's disease using methylation cytometry.

DNA methylation has been extensively utilized to study epigenetic patterns across many diseases as well as to deconvolve blood cell type proportions. This study builds upon previous studies examining methylation patterns in paediatric patients with varying stages of Crohn's disease to extend the immune profiling of these patients using a novel deconvolution approach. Compared with control subjects, we observed significantly decreased levels of CD4 memory and naive, CD8 naive, and natural killer cells and elevated neutrophil levels in Crohn's disease.

Investigating the correlation between small molecular inhibitor utilization, peripheral blood monocytes, and treatment outcomes in Rosai Dorfman disease.

Rosai Dorfman disease (RDD) is a non-Langerhans cell histiocytic neoplasm characterized by sinus histiocytosis with variable emperipolesis. There is a limited understanding of the factors that contribute to disease progression. Traditional management of RDD consists of local therapies (resection, radiation) for localized disease and myelosuppression for systemic disease; targeted medications have also recently been introduced into clinical practice as an additional therapeutic modality.

Exploring the Molecular Landscape of Myelofibrosis, with a Focus on Ras and Mitogen-Activated Protein (MAP) Kinase Signaling.

Myelofibrosis (MF) is a clonal myeloproliferative neoplasm (MPN) characterized clinically by cytopenias, fatigue, and splenomegaly stemming from extramedullary hematopoiesis. MF commonly arises from mutations in , , and , which manifests as hyperactive Jak/Stat signaling. Triple-negative MF is diagnosed in the absence of , , and but when clinical, morphologic criteria are met and other mutation(s) is/are present, including , , and .

New approaches to tackle cytopenic myelofibrosis.

Myelofibrosis (MF) is a clonal hematopoietic stem cell neoplasm characterized by constitutional symptoms, splenomegaly, and risks of marrow failure or leukemic transformation and is universally driven by Jak/STAT pathway activation. Despite sharing this pathogenic feature, MF disease behavior can vary widely. MF can generally be categorized into 2 distinct subgroups based on clinical phenotype: proliferative MF and cytopenic (myelodepletive) MF.

Fat Embolism Syndrome With Cerebral Involvement: An Underrecognized Complication of Long Bone Fractures.

Fat embolism syndrome (FES) occurs when fat particles are aberrantly distributed into the microcirculation, and it often manifests as either hypoxemia, neurological deficit, or petechial rash. Although cases have been reported in the literature since the twentieth century, no formal diagnostic criteria have been universally adopted, and FES remains a diagnostic challenge. We present a unique case of FES from a long bone fracture, leading to pulmonary embolism with paradoxical arterial embolization and cerebral infarction, and provide a review of the related literature.

Primary lung sarcoma with gastric metastasis and morphological divergence presenting as melena.

A 61-year-old man was admitted to the medical intensive care unit following a 2-week history of weakness, lightheadedness and melena resulting in an acute anaemia. Upper endoscopy revealed multiple large gastric masses without evidence of active bleeding. CT of the chest revealed a large right upper lobe mass with bony destruction of the third rib and invasion into the anterior chest wall and mediastinum, as well as a soft-tissue density in the left kidney.

The First Case of Ignatzschineria ureiclastica/larvae in the United States Presenting as a Myiatic Wound Infection.

is a recently identified genus of bacteria that has been isolated from the digestive tract of multiple flies associated with decomposing tissue. Species within this genus are rarely implicated in human disease, and less than 10 cases worldwide have been documented in the literature. Although there have been several documented cases of bacteremia in the United States (with one previous case in Louisville, KY), this case represents the first documented case of bacteremia in the United States.

Ophthalmic anterior segment metastasis masquerading as uveitis.

Ocular malignancies are rare, with many cancers of the eye being the result of metastases, the most common of which result from primary tumours of breast, lung and gastrointestinal tract. Diagnosis is often made at a late stage in the disease course, leading to poorer outcomes. Disease-directed therapy in the presence of ocular metastases varies based on the primary tumour and patient performance status but generally involves systemic treatment, either with chemotherapy or involved-field radiation.

The Clinical Characteristics of Multiple Myeloma in the Acute Care Setting: Case Presentation and Clinical Recommendations.

The acute complications of multiple myeloma can be varied and devastating, including electrolyte derangements, renal failure, and infections amongst others. The varying pathological mechanisms behind these complications make the management of patients presenting with multiple myeloma a complicated and sometimes tenuous process. The patient compliance can further exacerbate these difficulties.

Management of thrombocytopenia in a patient with a mechanical mitral valve undergoing autologous hematopoietic stem cell transplantation: case report and review of literature.

Mechanical mitral valves require life-long anticoagulation with Vitamin K Antagonists (VKA), targeted to an international normalized ratio (INR) of 2.5-3.5.

Digital Whole Slide Imaging Compared With Light Microscopy for Primary Diagnosis in Surgical Pathology.

Context.—: The adoption of digital capture of pathology slides as whole slide images (WSI) for educational and research applications has proven utility.

Objective.

Acquired factor X deficiency in a patient with multiple myeloma: a rare case highlighting the significance of comprehensive evaluation and the need for antimyeloma therapy for bleeding diathesis.

Factor X deficiency is a rare bleeding disorder that can be associated with life-threatening bleeding events. Factor X deficiency can either be inherited or acquired. Acquired cases of factor X deficiency can be seen in patients with plasma cell dyscrasias as well as amyloidosis.

Sclerosing epithelioid mesenchymal neoplasm of the pancreas - a proposed new entity.

We have encountered pancreatic tumors with unique histologic features, which do not conform to any of the known tumors of the pancreas or other anatomical sites. We aimed to define their clinicopathologic features and whether they are characterized by recurrent molecular signatures. Eight cases were identified; studied histologically and by immunohistochemistry.