Left ventricular non-compaction in a hypermobile adolescent harboring a novel troponin I (TNNI3) variant (p.K106N): a case report.
Left ventricular non-compaction (LVNC) is a genetically heterogeneous cardiomyopathy linked to sarcomeric and cytoskeletal genes, yet only one case has previously been associated with a troponin I (TNNI3) variant. Our case report describes the exceptionally rare coexistence of LVNC, a novel TNNI3 va…
Extracellular Matrix Proteomic Signatures Associate with Disease-Free Survival in Later Events of Ductal Carcinoma In Situ or Invasive Breast Cancer.
Ductal carcinoma in situ (DCIS) is a noninvasive breast lesion with variable risk of progression to invasive breast cancer (IBC). Current transcription and cell marker investigations suggest ECM decreases in later events but are limited in details of ECM proteomic composition, including post-transla…
Integrative Analysis of Hub Genes and miRNAs Reveals Inflammatory and Structural Signatures in Fibromyalgia and Their Modulation Following Manual Therapy.
Fibromyalgia is a chronic pain syndrome characterized by widespread musculoskeletal pain, fatigue, sleep disturbances, and cognitive dysfunction, with substantial impact on quality of life and functional capacity. Despite its high prevalence, its underlying molecular mechanisms remain incompletely u…
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Exploring the Hemorrhagic Manifestations of an Adolescent With Dermatosparaxis-Type Ehlers-Danlos Syndrome: A Case Report.
A 15-year-old female patient presented with recurrent episodes of hematemesis over six months, with no identifiable source on initial evaluations, including upper gastrointestinal (GI) endoscopy and abdominal angiography. Despite a thorough workup for bleeding diatheses, the etiology remained elusiv…
The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
Abdominopelvic Vascular Compression Syndrome(s) (VCS) are rare disorders with diverse symptoms that appear to occur more frequently in patients with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). The reported associations between EDS/HSD, Postural Orthostatic Tachycardia Syn…
Fibrotic remodeling in the NOD/ShiLtJ mouse model of Sjögren's disease: insights from single-cell transcriptomics and AI-driven ECM quantification.
Sjögren's Disease (SjD) is an autoimmune disorder characterized by salivary gland hypofunction and lymphocytic infiltration, yet the contribution of fibrosis to glandular dysfunction remains unclear. We evaluated the NOD/ShiLtJ mouse as a model for salivary gland fibrosis and used it to examine…
Cardiovascular manifestations of type IV Ehlers-Danlos syndrome - A case report.
Type IV Ehlers-Danlos syndrome (vascular) is a rare connective tissue disease caused by COL3A1 gene mutation on type III collagen. Clinical presentation is related to vascular fragility and risk of rupture of the arterial wall. Definite diagnosis is given by genetic study and the approach to these p…