Rheumatoid Arthritis Associated With Anti-Signal Recognition Particle Immune-Mediated Necrotizing Myopathy: A Case Report.

Immune-mediated necrotizing myopathy (IMNM) is a rare subtype of idiopathic inflammatory myopathy that is characterized by severe subacute proximal weakness, myofiber necrosis, and significantly elevated serum creatine kinase. Anti-signal recognition particle (SRP) and anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase autoantibodies have been found in about two-thirds of patients with IMNM. This myopathy is usually idiopathic and there is a scarce literature concerning its association with connective tissue diseases.

Pericardiectomy and Mechanical Mitro-Aortic Valve Replacement in a Young Patient With Erdheim-Chester Disease.

Erdheim-Chester disease is a rare histiocytosis that primarily affects the skeletal system, but cardiovascular manifestations occur in 75% of cases and are associated with a poor prognosis. Given the small number of cases, the evolution and management of the disease are uncertain. Therefore, it is important to report and share Erdheim-Chester cases.

Yield of non-invasive imaging in MRI-negative focal epilepsy.

Objective: The absence of MRI-lesion reduces considerably the probability of having an excellent outcome (International League Against Epilepsies [ILAE] class I-II) after epilepsy surgery. Surgical success in magnetic-resonance imaging (MRI)-negative cases relies therefore mainly on non-invasive techniques such as positron-emission tomography (PET), subtraction ictal/inter-ictal single-photon-emission-computed-tomography co-registered to MRI (SISCOM), electric source imaging (ESI) and morphometric MRI analysis (MAP). We were interested in identifying the optimal imaging technique or combination to achieve post-operative class I-II in patients with MRI-negative focal epilepsy.

ChatGPT in glioma adjuvant therapy decision making: ready to assume the role of a doctor in the tumour board?

Objective: To evaluate ChatGPT's performance in brain glioma adjuvant therapy decision-making.

Methods: We randomly selected 10 patients with brain gliomas discussed at our institution's central nervous system tumour board (CNS TB). Patients' clinical status, surgical outcome, textual imaging information and immuno-pathology results were provided to ChatGPT V.

Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.

Background: Mutations in the TTN gene, encoding the muscle filament titin, are a major cause of inherited dilated cardiomyopathy. Early-onset skeletal muscle disorders due to recessive TTN mutations have recently been described, sometimes associated with cardiomyopathies.

Case Description: We report the case of a boy with congenital core myopathy due to compound heterozygosity for TTN variants.

The impact of transsphenoidal surgery on pituitary function in patients with non-functioning macroadenomas.

Purpose: Transsphenoidal surgery for non-functioning pituitary adenomas (NFPAs) can alter pituitary function. We assessed the rates of improvement and deterioration of pituitary function by axis and searched for predictive factors of these outcomes.

Methods: We reviewed consecutive medical files from patients having had transsphenoidal surgery for NFPA between 2004 and 2018.

Establishing correlations between normal pancreatic and submandibular gland ducts.

Background: The objectives of this study were to evaluate the relationship between ductal morphometry and ramification patterns in the submandibular gland and pancreas in order to validate their common fractal dimension.

Methods: X-ray ductography with software-aided morphometry were obtained by injecting barium sulphate in the ducts of post-mortem submandibular gland and pancreas specimens harvested from 42 adult individuals.

Results: Three cases were excluded from the study because of underlying pathology.

Decrease in pain perception during acute SARS-CoV-2 infection: a case series.

Many reports have described pain appearance or an increase of chronic pain concomitant to severe acute respiratory syndrome coronavirus 2 infection. Here, we describe the cases of 3 patients with chronic cancer pain, in which COVID-19 was associated with a dramatic reduction or disappearance of pain. Pain reappeared after recovery from COVID-19.

Prevalence of large vessel vasculitis in ANCA-associated vasculitis: a retrospective cohort study.

ANCA-associated vasculitis (AAV) in general involves small blood vessels and includes granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA). Although reported in a few studies, the prevalence of large vessel vasculitis (LVV) in patients with AAV remains to be further explored. The goal of the present study was to assess the prevalence of LVV in a cohort of patients with AAV and to characterize this population.

Multiomic Analyses of Dopaminergic Neurons Isolated from Human Substantia Nigra in Parkinson's Disease: A Descriptive and Exploratory Study.

Dopaminergic neurons (DA) of the substantia nigra pars compacta (SNpc) selectively and progressively degenerate in Parkinson's disease (PD). Until now, molecular analyses of DA in PD have been limited to genomic or transcriptomic approaches, whereas, to the best of our knowledge, no proteomic or combined multiomic study examining the protein profile of these neurons is currently available. In this exploratory study, we used laser capture microdissection to extract regions from DA in 10 human SNpc obtained at autopsy in PD patients and control subjects.

Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread.

Objective: High-grade glioma (HGG) rarely spreads outside the CNS. To test the hypothesis that the lesions were metastases originating from an HGG, we sequenced the relapsing HGG and distant extraneural lesions.

Methods: We performed whole-exome sequencing of an HGG lesion, its local relapse, and distant lesions in bone and lymph nodes.

Undetected Causes of Death in Hospitalized Elderly with COVID-19: Lessons from Autopsy.

Background: Mechanisms and causes of death in older patients with SARS-CoV-2 infection are still poorly understood.

Methods: We conducted in a retrospective monocentric study, a clinical chart review and post-mortem examination of patients aged 75 years and older hospitalized in acute care and positive for SARS-CoV-2. Full body autopsy and correlation with clinical findings and suspected causes of death were done.

SARS-CoV-2 Receptors and Entry Genes Are Expressed in the Human Olfactory Neuroepithelium and Brain.

Reports indicate an association between COVID-19 and anosmia, as well as the presence of SARS-CoV-2 virions in the olfactory bulb. To test whether the olfactory neuroepithelium may represent a target of the virus, we generated RNA-seq libraries from human olfactory neuroepithelia, in which we found substantial expression of the genes coding for the virus receptor angiotensin-converting enzyme-2 (ACE2) and for the virus internalization enhancer TMPRSS2. We analyzed a human olfactory single-cell RNA-seq dataset and determined that sustentacular cells, which maintain the integrity of olfactory sensory neurons, express and .

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability.

Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy. It is believed by some authors to be due to myotoxicity of light chain deposits. Two female patients were diagnosed with MGUS associated SLONM.

[ENT and head and neck manifestations of the IgG4-related disease].

IgG4-related disease is a rare multi-organic inflammatory disease that frequently involves the ENT and head and neck areas. In these cases, salivary gland and lacrimal gland involvement is very common and includes enlargement, infiltration, and formation of pseudotumours. Diagnosis of IgG4 related disease remains a challenge and relies on several clinical, serological, radiological and histopathological criteria to differentiate from other diseases with similar clinical presentation.

Inside the lungs of COVID-19 disease.

In the setting of the coronavirus disease 2019 (COVID-19) pandemic, only few data regarding lung pathology induced by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is available, especially without medical intervention interfering with the natural evolution of the disease. We present here the first case of forensic autopsy of a COVID-19 fatality occurring in a young woman, in the community. Diagnosis was made at necropsy and lung histology showed diffuse alveolar damage, edema, and interstitial pneumonia with a geographically heterogeneous pattern, mostly affecting the central part of the lungs.

Statin-induced autoimmune necrotizing myopathy with pharyngeal muscles involvement.

Statins are widely prescribed in the treatment of hypercholesterolemia. While their efficacy in the secondary prevention of vascular events is proven, their safety profile in older patients with multiple co-morbidities and polypharmacy remains questionable. Although rare, antihydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a severe adverse effect of statins, manifesting as myalgias, proximal muscle weakness, muscle cell necrosis and rhabdomyolysis.

HSP105 expression in oral squamous cell carcinoma: Correlation with clinicopathological features and outcomes.

Background: Heat shock proteins (HSPs) are released in response to stress situations, such as heat, inflammation, and infection. They are also involved in the tumor cell proliferation and prevention of apoptosis. Heat shock protein 105 (Hsp105/110) is a high-molecular-weight protein, which has been reported in many cancer types but few studies have been carried out on oral squamous cell carcinoma (OSCC).

[Intra-cranial meningiomas - Management of the patients in the microsurgery era].

Intracranial meningiomas account for 30 to 40 % of the primary lesions of the central nervous system. In most of the cases, the diagnosis of an intracranial meningioma requires a neurosurgical management, in a multi-disciplinary perspective involving radiation therapists, pathologists and, in some cases, oncologists. The variety of clinical presentations and localizations, as well as the varying degrees of aggressiveness, make intracranial meningiomas a protean surgical entity, requiring a case-by-case management tailored to each patient.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age. This is a rare condition, previously reported in only four families. In contrast, heterozygous GRN mutations are a major cause of frontotemporal dementia associated with neuronal cytoplasmic TDP-43 inclusions.

Ex vivo evaluation of an atherosclerotic human coronary artery via histology and high-resolution hard X-ray tomography.

Atherosclerotic arteries exhibit characteristic constrictions and substantial deviations from cylindrical shape. Therefore, determining the artery's cross-section along the centerline is challenging, although high-resolution isotropic three-dimensional data are available. Herein, we apply high-resolution computed tomography in absorption and phase to a plaque-containing human artery post-mortem, through the course of the preparation stages for histology.

Intimomedial mucoid arterial degeneration, a rare arterial disorder of forensic significance.

The body of a 43-year-old African woman with a history of aortic aneurysm and hypertension was forensically investigated after her sudden death. The cause of death was related to a cardiac tamponade due to a ruptured aneurysm of the ascending aorta. Post-mortem gross examination showed an abnormal whitish discoloration of the intima with fibrous thickening of the aortic wall.