Recurrent internal carotid artery dissection due to missed diagnosis of Eagle's Syndrome.

The clinical image illustrates an unusual case of a patient with bilateral carotid artery dissection caused by compression from elongated styloid processes. In this case, the diagnosis was overlooked eight years earlier. Eagle's syndrome, marked by an elongated styloid process, can result in cervical artery dissection, highlighting the significance of recognizing this correlation in recurrent cases, which occur more frequently than idiopathic ICA dissections.

Valve-sparing procedure for acute aortic regurgitation due to intimal intussusception in a minimally localized aortic root dissection.

Background: Acute heart failure due to aortic regurgitation (AR) is a severe comorbidity of type A acute aortic dissection (AAD). Valve-sparing aortic root replacement is typically performed when the aortic valve remains intact.

Case Presentation: A 33-year-old male presented to our hospital with chest pain.

Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.

O-GlcNAcylation is an essential protein modification catalyzed by O-GlcNAc transferase (OGT). Missense variants in OGT are linked to a novel intellectual disability syndrome known as OGT congenital disorder of glycosylation (OGT-CDG). The mechanisms by which OGT missense variants lead to this heterogeneous syndrome are not understood, and no unified method exists for dissecting pathogenic from non-pathogenic variants.

Single-Molecule Visualization of BLM-DNA2-Mediated DNA End Resection Using DNA Curtains.

Homologous recombination (HR) is the principal pathway undertaken by a cell for the error-free repair of DNA double-strand breaks that are frequently encountered by the cell. HR can be initiated at the sites of DNA double-strand breaks by generating long stretches of single-stranded 3' DNA overhang through a process called DNA end resection. In one DNA end resection pathway, this is achieved via the concerted effort of specialized machinery involving the RecQ family helicase BLM, the helicase/endonuclease DNA2, and a single-strand DNA binding protein complex RPA.

Painless Aortic Syndrome in a Patient with Syncope and Globus Sensation: A Case Report.

Introduction: Aortic dissection is a devastating clinical entity with a variety of presentations and requires prompt recognition and management. To our knowledge this is the first reported case of a patient who presented with a globus sensation and was diagnosed with an aortic dissection prior to clinical deterioration.

Case Report: The patient presented with an episode of near-syncope and globus sensation.

Dissecting the Kaiso binding profile in clear renal cancer cells.

Background: There has been a notable increase in interest in the transcriptional regulator Kaiso, which has been linked to the regulation of clonal hematopoiesis, myelodysplastic syndrome, and tumorigenesis. Nevertheless, there are no consistent data on the binding sites of Kaiso in vivo in the genome. Previous ChIP-seq analyses for Kaiso contradicted the accumulated data of Kaiso binding sites obtained in vitro.

Zebrafish navigating the metabolic maze: insights into human disease - assets, challenges and future implications.

Zebrafish () have become indispensable models for advancing our understanding of multiple metabolic disorders such as obesity, diabetes mellitus, dyslipidemia, and metabolic syndrome. This review provides a comprehensive analysis of zebrafish as a powerful tool for dissecting the genetic and molecular mechanisms of these diseases, focusing on key genes, like , , , and . Zebrafish offer distinct advantages, including genetic tractability, optical transparency in early development, and the conservation of key metabolic pathways with humans.

Insight into metabolic dysregulation of polycystic ovary syndrome utilizing metabolomic signatures: a narrative review.

Polycystic ovary syndrome (PCOS) is a complex multifactorial endocrinopathy affecting reproductive aged women globally, whose presentation is strongly influenced by genetic makeup, ethnic, and geographic diversity leaving these affected women substantially predisposed to reproductive and metabolic perturbations. Sophisticated techniques spanning genomics, proteomics, epigenomics, and transcriptomics have been harnessed to comprehensively understand the enigmatic pathophysiology of PCOS, however, conclusive markers for PCOS are still lacking today. Metabolomics represents a paradigm shift in biotechnological advances enabling the simultaneous identification and quantification of metabolites and the use of this approach has added yet another dimension to help unravel the strong metabolic component of PCOS.

Postoperative fragmentation and distal migration of Carotid Stent in vascular Eagle Syndrome.

Objectives: Vascular Eagle syndrome (ES) is a rare condition involving vessel compression by an elongated styloid process, leading to neurologic symptoms. Here, we present the case of a patient with a complication of carotid artery stenting for vascular ES and discuss the implications of treatment of this rare condition.

Case Description: A 35-year-old previously healthy male patient presented with transient aphasia and right-sided hemiparesis following ischemic stroke in left frontal lobe.

Comparison of outcomes of Impella-assisted high-risk percutaneous coronary intervention in patients with and without prior coronary artery bypass graft.

Background: Limited data is available regarding in-hospital outcomes of patients undergoing high-risk percutaneous coronary intervention (HR-PCI) with Impella with and without a prior history of coronary artery bypass grafting (CABG).

Methods: We performed a retrospective study from the Nationwide Inpatient Sample from year 2016 to 2020. We identified patients who underwent Impella and percutaneous coronary intervention on the same day and excluded those with cardiogenic shock.

Unveiling the Uncommon: A Case Report of Horner's Syndrome as a Rare Glimpse Into Giant Cell Arteritis.

Giant cell arteritis (GCA) is an inflammatory vasculitis affecting large and medium-sized arteries, leading to complications such as arterial dissection, blindness, and stroke. Rarely, GCA presents with Horner's syndrome due to sympathetic neuron involvement from arterial inflammation. This case report discusses an 82-year-old female with hypertension, atrial fibrillation, and arthritis who presented with a 24 h history of right eye ptosis, blurred vision, dizziness, and aching eye pain.

Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.

Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in , differentiation from other conditions such as LDS is crucial due to the varying clinical courses. We report the case of a family history of early-onset ascending aortic dissection initially diagnosed as MFS based on a pathogenic variant of .

A Case Report of Acute Pericarditis Presenting With Acute Aortic Dissection.

This case report presents a rare occurrence of acute pericarditis coinciding with acute aortic dissection (AAD), emphasizing the significance of recognizing and managing these dual conditions effectively. It highlights the necessity of a multidisciplinary approach and underscores the importance of maintaining a high index of suspicion regardless of symptomatology to ensure prompt patient management and complication prevention. This case describes a 91-year-old male patient, who initially presented with mild chest pain, and was later diagnosed with AAD alongside acute pericarditis.

A Dual Challenge: Endocarditis in a Patient with Familial Thoracic Aortic Aneurysm-Case Report and Literature Review.

: Thoracic aortic aneurysms (TAAs) are potentially life-threatening medical conditions, and their etiology involves both genetic and multiple risk factors. endocarditis is one of the most frequent causes of blood culture-negative infective endocarditis (BCNIE) in patients with previous cardiac surgery. Our review aims to emphasize the importance of genetic testing in patients with thoracic aortic aneurysms but also the importance of additional testing in patients with suspected endocarditis whose blood cultures remain negative.

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.

: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.

Conservative Treatment of Retrograde Aortic Dissection after Endovascular or Hybrid repair of descending aorta pathologies.

Background: Retrograde type A dissection (RTAD) represents a rare but possible lethal complication of thoracic endovascular aortic repair. Intervention is often recommended but conservative management has been advocated in selected cases.

Methods: We performed a systematic review of the literature through MedLine and Cochrane databases over the last 24 years to identify reported cases of RTAD managed conservatively.

The co-occurrence of a previously unreported double-headed accessory psoas major with an unusually positioned accessory iliacus muscle: case report.

The iliopsoas muscle complex traditionally consists of the iliacus muscle and psoas major, occasionally including the psoas minor. These elements were distinguished based on their shared function and common distal attachment. Although accessory structures have been previously reported within the complex, they are rare.

Association of testicular histopathology with sperm retrieval success rates in men with idiopathic non-obstructive azoospermia.

Introduction: Infertility is a major public health issue, with male factors alone contributing to 20-30% of cases. Non-obstructive azoospermia (NOA) is the most severe form, and although techniques like microdissection testicular sperm extraction (mTESE) offer hope, it remains challenging due to its uncertain causes. This study investigates the correlation between testicular histopathology and clinical parameters to enhance sperm retrieval (SR) prediction.

The bilateral persistent sciatic vein: a rare and clinically meaningful lower limb variant.

Background: The lower limb venous system, a subject of extensive study due to its high clinical significance on deep vein thrombosis, presents a rare, intriguing, symmetrical variant in this dissection report.

Case Report: We present the uncommon and clinically meaningful bilateral persistent sciatic vein (PSV) variant. The developmental variant was symmetrically detected during a dissection of an 81-year-old female donated cadaver.

A Pathway-Level Information ExtractoR (PLIER) framework to gain mechanistic insights into obesity in Down syndrome.

Down syndrome (DS), caused by the triplication of chromosome 21 (T21), is a prevalent genetic disorder with a higher incidence of obesity. Traditional approaches have struggled to differentiate T21-specific molecular dysregulation from general obesity-related processes. This study introduces the omni-PLIER framework, combining the Pathway-Level Information ExtractoR (PLIER) with the omnigenic model, to uncover molecular mechanisms underlying obesity in DS.

Arthroscopic Assisted Reduction and Fixation in Tibial Plateau Fractures: A Prospective Review.

Introduction: Tibial plateau fractures, which constitute approximately 1% of all fractures with an incidence of 10.3/100,000 annually, result from varus or valgus forces combined with axial loading in the knee. These fractures display a bimodal distribution, affecting younger individuals through high-velocity trauma and older individuals through low-energy trauma.

Sex- and Age-Based Differences in Non-Syndromic Arteriopathies Amongst Younger Adults.

Aneurysms are often associated with connective tissue disorders, but most occur sporadically and are non-syndromic. Manifestations of these non-syndromic arteriopathies across sexes and age groups have not been discussed extensively in the literature, especially in younger cohorts. We analyzed data from 84,496 patients in the Mayo Clinic Tapestry DNA Sequencing Study, excluding those with known vascular syndromes.

Thoracic and Cardiovascular Imaging Manifestations of Lupus.

Systemic lupus erythematosus (SLE), commonly referred to as lupus, is a widely prevalent chronic autoimmune disease that can affect any organ system in the body. Although the pathogenesis of this disease is rather complex and poorly understood, ultimately there is an overproduction of multiple self-reactive antinuclear antibodies. These autoantibodies are one of the laboratory hallmarks of the diagnosis and disease activity of SLE.

Complete Tumor Resection and Radical Lymphadenectomy: Potential Cure for Adrenocorticotropic Hormone (ACTH)-Dependent Pulmonary Carcinoid.

Ectopic adrenocorticotropic hormone (ACTH)-dependent Cushing is a rare syndrome. We present a case that illustrates the diagnostic and therapeutic challenges of ectopic Cushing. A 35-year-old woman presented to the outpatient clinic for evaluation of progressive weight gain, muscle weakness, easy bruising, uncontrolled hypertension, and hyperglycemia.