NONO-related X-linked intellectual disability syndrome: further clinical and molecular delineation.

The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.

Bilateral thalamic infarction with posterior cerebral artery variant (the arcade artery): A case report.

Rationale: Bilateral thalamic infarction is a rare type of posterior circulation stroke, and it often presents with a reduced level of consciousness in the elderly. Arteriosclerosis is the primary etiology of bilateral thalamic infarction, including conditions such as native vessel stenosis or arterial-to-arterial embolism. Cardiogenic or paradoxical embolism can also lead to thrombosis of the perforator branches innervating the thalamus, and these emboli tend to disintegrate and lead to multiple lesions, even in elderly patients.

Complete Clinical Recovery Following Surgical Excision of Extensive Primary Cardiac Sarcoma.

Primary cardiac tumors are rare, most of them being benign. Most malignant cardiac tumors are sarcomas, with the most important therapeutic option being surgery, along with perioperative chemo- and radiotherapy. Here, we present a case of a 67-year-old female patient with no prior medical condition, who presented with primary cardiac sarcoma and extensive tumor growth in the pulmonary artery.

Surgical Explantation of an Amplatzer Device for Patent Foramen Ovale Closure in a Patient With Nickel Allergy: A Case Report.

Patent foramen ovale (PFO) closure using percutaneous devices, such as the Amplatzer occluder, is a common treatment for patients with a history of cryptogenic stroke or transient ischemic attack (TIA). Although generally well-tolerated, some patients may develop adverse reactions to the device materials, particularly in the presence of a nickel allergy. Symptoms can include chest pain, rashes, and migraines, which may necessitate surgical removal of the device.

Evaluation of Triglyceride Glucose Index in Patients with Patent Foramen Ovale Who Experienced Cryptogenic Stroke.

: The prevalence of patent foramen ovale (PFO) has been found to be increased in patients with cryptogenic stroke, suggesting an association between these two clinical settings. Insulin resistance is a risk factor for the occurrence of stroke. The triglyceride glucose (TyG) index is a biomarker that reflects the IR status of the body.

The detailed transseptal puncture technique for optimal closure in patients with a patent foramen ovale.

Background: The closure of a patent foramen ovale (PFO) using transseptal puncture has particular advantages and disadvantages. Thus, transseptal puncture should be re-evaluated in detail.

Aims: We aimed to assess the effectiveness of the detailed transseptal puncture technique in patients who underwent PFO closure due to cryptogenic stroke or transient ischemic attack in terms of residual shunts and atrial fibrillation.

Recurrent cutaneous decompression sickness in a hyperbaric chamber attendant with a large persistent foramen ovale.

A 41-year-old female nurse had cutaneous decompression sickness on two occasions after acting as an inside chamber attendant for patients receiving hyperbaric oxygen. She breathed air during the treatments at pressures equivalent to 14 and 18 metres of seawater, but each time she decompressed whilst breathing oxygen. Latency was 2.

Long-term cerebrovascular outcomes of patients undergoing percutaneous patent foramen ovale closure in observational studies: a systematic review and meta-analysis.

Objectives: Patent foramen ovale (PFO) closure is recommended for patients who experience a cryptogenic stroke attributable to PFO. Although few randomized control trials (RCTs) have captured long-term effectiveness of PFO closure, observational data has been abundant. This is the first systematic review of observational studies determining incidence of long-term adverse outcomes in adults who underwent transcatheter PFO closure, with comparisons to findings from RCTs.

The Relationship Between the Triglyceride-Glucose Index and Cryptogenic Stroke in Patients with Patent Foramen Ovale.

Objective: This study aimed to investigate the association between the triglyceride-glucose (TyG) index and cryptogenic stroke (CS) in patients diagnosed with patent foramen ovale (PFO) using transesophageal echocardiography (TEE).

Methods: A retrospective, single-center study was conducted at a tertiary education and research hospital from January 2015 to December 2023. The study population included 1017 consecutive patients with sinus rhythm diagnosed with PFO, of whom 210 had CS.

[Platypnea-orthodeoxia syndrome in a patient with heart failure: A case report].

Introduction: The platypnea orthodeoxia syndrome is a rare clinical entity combining positional dyspnea and arterial oxygen desaturation during the transition to orthostatism, reversible on return to decubitus. The most frequent etiology of this syndrome is the presence of a patent foramen ovale (PFO) responsible for a right-to-left intracardiac shunt, the severity of which results in significant functional disability and a risk of death from hypoxia.

Case Report: We report the case of a 93-year old patient on long-term oxygen, initially hospitalized for acute heart failure following a community-acquired urinary tract infection.