Tailored Revascularization and Endovascular Strategy in the Management of Type 1A Endoleak After Descending Thoracic Aortic Aneurysm (TAA) Repair: A Case Report.

Thoracic endovascular aortic repair (TEVAR) has emerged as the preferred treatment for descending thoracic aortic aneurysms (TAA), but one of its major complications, type 1A endoleaks, can lead to aneurysm rupture and mortality if not managed promptly and effectively. This case report details an 87-year-old male patient who developed a type 1A endoleak following a TEVAR procedure for a large descending TAA. The patient's complex vascular anatomy, including a dominant right vertebral artery and an aneurysmal left subclavian artery, necessitated a tailored surgical approach.

miR-33 inhibition as a novel therapeutic approach for treating muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a devastating disorder caused by pathogenic variants in the dystrophin gene resulting in the absence of a functional dystrophin protein. While the primary cause of DMD is well-documented, the impact of disrupted secondary signaling pathways in dystrophic muscles and organs is still being unraveled. MicroRNAs are small, non-coding RNAs known to regulate key signaling pathways in growth, regeneration, and disease.

Late-Stage Skeletal Muscle Transcriptome in Duchenne Muscular Dystrophy Shows a BMP4-Induced Molecular Signature.

Background: Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disease due to loss-of-function variants in the DYSTROPHIN gene. DMD-related skeletal muscle wasting is typified by an aberrant immune response involving upregulation of the TGFβ family of cytokines, like TGFβ1 and BMP4. We previously demonstrated that bone morphogenetic protein 4 (BMP4) is increased in DMD and BMP4 stimulation induces a 20-fold upregulation of Smad8 transcription in muscle cells.

Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series.

Introduction: Spinal muscular atrophy (SMA) is a genetic, progressive neuromuscular disease caused by pathogenic variants in the survival of motor neuron survival of motor neuron (SMN) 1 gene leading to a deficiency in SMN protein. Three disease-modifying therapies are available for the treatment of SMA, affording many with the opportunity for family planning. Fertility outcomes in patients with SMA treated with risdiplam have not been previously reported.

X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model.

X-linked myopathy with excessive autophagy (XMEA), a rare childhood-onset autophagic vacuolar myopathy caused by mutations in VMA21, is characterized by proximal muscle weakness and progressive vacuolation. VMA21 encodes a protein chaperone of the vacuolar hydrogen ion ATPase, the loss of which leads to lysosomal neutralization and impaired function. At present, there is an incomplete understanding of XMEA, its mechanisms, consequences on other systems, and therapeutic strategies.

Conditional ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways.

Duchenne muscular dystrophy (DMD) patients suffer from skeletal and cardiopulmonary weakness, and interestingly up to one third are diagnosed on the autism spectrum. Dystrophin is an essential protein for regulating the transmission of intracellular force to the extracellular matrix within the skeletal muscle, but also plays key roles in neurobehavior and cognitive function. The mouse dystrophin gene (also abbreviated ) is X-linked and has several isoforms with tissue-specific expression, including the large muscle transcript found in heart and skeletal muscle, and the transcript that encodes the brain-specific dystrophin cerebellar protein.

A review of neurogenetics in fetal and neonatal clinical medicine.

This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts.

Late-Stage Skeletal Muscle Transcriptome in Duchenne muscular dystrophy shows a BMP4-Induced Molecular Signature.

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disease due to loss-of-function mutations in the gene. DMD-related skeletal muscle wasting is typified by an aberrant immune response involving upregulation of TGFβ family of cytokines. We previously demonstrated that bone morphogenetic protein 4 (BMP4) is increased in DMD and BMP4 stimulation induces a 20-fold upregulation of transcription.

ANKRD1 expression is aberrantly upregulated in the mdm mouse model of muscular dystrophy and induced by stretch through NFκB.

The muscular dystrophy with myositis (mdm) mouse model results in a severe muscular dystrophy due to an 83-amino-acid deletion in the N2A region of titin, an expanded sarcomeric protein that functions as a molecular spring which senses and modulates the response to mechanical forces in cardiac and skeletal muscles. ANKRD1 is one of the muscle ankyrin repeat domain proteins (MARPs) a family of titin-associated, stress-response molecules and putative transducers of stretch-induced signaling in skeletal muscle. The aberrant over-activation of Nuclear factor Kappa B (NF-κB) and the Ankyrin-repeat domain containing protein 1 (ANKRD1) occurs in several models of progressive muscle disease including Duchenne muscular dystrophy.

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.

Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with NM. A systematic search of MEDLINE, Embase, CINAHL, Web of Science, and Scopus was performed using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines using the keywords , , , , and .

Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by skeletal muscle instability, progressive muscle wasting, and fibrosis. A major driver of DMD pathology stems from aberrant upregulation of transforming growth factor β (TGFβ) signaling. In this report, we investigated the major transducers of TGFβ signaling, i.

DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.

The Dedicator of Cytokinesis (DOCK) family (DOCK1-11) of genes are essential mediators of cellular migration, growth, and fusion in a variety of cell types and tissues. Recent advances in whole-genome sequencing of patients with undiagnosed genetic disorders have identified several rare pathogenic variants in DOCK genes. We conducted a systematic review and performed a patient database and literature search of reported DOCK pathogenic variants that have been identified in association with clinical pathologies such as global developmental delay, immune cell dysfunction, muscle hypotonia, and muscle ataxia among other categories.

miR-486 is essential for muscle function and suppresses a dystrophic transcriptome.

miR-486 is a muscle-enriched microRNA, or "myomiR," that has reduced expression correlated with Duchenne muscular dystrophy (DMD). To determine the function of miR-486 in normal and dystrophin-deficient muscles and elucidate miR-486 target transcripts in skeletal muscle, we characterized knockout mice ( KO). KO mice developed disrupted myofiber architecture, decreased myofiber size, decreased locomotor activity, increased cardiac fibrosis, and metabolic defects were exacerbated in KO: (DKO) mice.

Robotic Resection of Pulmonary Epithelial Myoepithelial Carcinoma: A Case Report.

 Pulmonary epithelial-myoepithelial carcinoma (P-EMC) is an extremely rare, well-differentiated, and malignant neoplasm originating from submucosal bronchial glands in the lung. EMCs arise mainly in the salivary glands.  This case represents an asymptomatic 78-year-old male with a remote 75-pack-year history of smoking who presents with a solitary endobronchial lesion, which is suggestive of a primary lung EMC, detected on annual screening chest computed tomography (CT) scan.

Mechanics of dystrophin deficient skeletal muscles in very young mice and effects of age.

The MDX mouse is an animal model of Duchenne muscular dystrophy, a human disease marked by an absence of the cytoskeletal protein, dystrophin. We hypothesized that ) dystrophin serves a complex mechanical role in skeletal muscles by contributing to passive compliance, viscoelastic properties, and contractile force production and ) age is a modulator of passive mechanics of skeletal muscles of the MDX mouse. Using an in vitro biaxial mechanical testing apparatus, we measured passive length-tension relationships in the muscle fiber direction as well as transverse to the fibers, viscoelastic stress-relaxation curves, and isometric contractile properties.

Pediatric Autoimmune Ocular Myasthenia Gravis: Evaluation of Presentation and Treatment Outcomes in a Large Cohort.

Background: In autoimmune myasthenia gravis (MG), autoantibodies target the neuromuscular junction. Ocular myasthenia gravis (OMG) is localized, affecting only extraocular and/or levator palpebrae muscles. OMG presents across all ages, varying in presentation, treatment modalities, and outcomes.

Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.

Background: The diagnosis of uncommon pediatric neuromuscular disease (NMD) is challenging due to genetic and phenotypic heterogeneity, yet is important to guide treatment, prognosis, and recurrence risk. Patients with diagnostically challenging presentations typically undergo extensive testing with variable molecular diagnostic yield. Given the advancement in next generation sequencing (NGS), we investigated the value of clinical whole exome sequencing (ES) in uncommon pediatric NMD.

Hospital Readmissions for Hyperparathyroidism After Bariatric Surgery in the United States: A National Database Review.

Introduction: The incidence and significance of hyperparathyroidism in patients after bariatric surgery have been established to some degree; however, the impact it has on the national healthcare system has not. We sought to assess the risk of readmission and related comorbidities in this patient population.

Methods: The Healthcare Cost and Utilization Project Nationwide Readmission Database was queried for all patients who underwent Roux-en-Y gastric bypass (RYGB) or sleeve gastrectomy (SG).

DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.

DOCK3 is a member of the DOCK family of guanine nucleotide exchange factors that regulate cell migration, fusion and viability. Previously, we identified a dysregulated miR-486/DOCK3 signaling cascade in dystrophin-deficient muscle, which resulted in the overexpression of DOCK3; however, little is known about the role of DOCK3 in muscle. Here, we characterize the functional role of DOCK3 in normal and dystrophic skeletal muscle.