Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFThis study investigates serum cell-free DNA fluctuations in patients with herpes zoster or post-herpetic neuralgia, offering insight into the tissue damage and inflammatory dynamics associated with these conditions. A single-centre combined cross-sectional and longitudinal study was conducted with 59 patients to assess cell-free DNA levels in herpes zoster and post-herpetic neuralgia. Cell-free DNA was extracted from blood samples of patients with herpes zoster or post-herpetic neuralgia and compared with healthy controls.
View Article and Find Full Text PDFBackground: Desmoplakin (DSP) variants are associated with left-predominant or biventricular arrhythmogenic cardiomyopathy. Exercise promotes penetrance and sustained ventricular arrhythmias (VA) in right-sided arrhythmogenic right ventricular cardiomyopathy, but its effect is unknown in DSP variant carriers.
Objectives: To assess whether exercise is associated with clinical outcomes among individuals with a pathogenic or likely pathogenic (P/LP) DSP variant.
Cranioplasty for secondary reconstruction of cranial defects has historically focused on simply replacing the missing cranial bone to restore cerebral protection and fluid dynamics, but recent innovations have led to the development of customized cranial implants that address both bone and soft tissue deficits while avoiding postoperative complications such as temporal hollowing. In addition, customized cranial implants have incorporated implantable neurotechnology like ventriculostomy shunts, intracranial pressure monitoring devices, and medicine delivery systems within low-profile designs to convert previously "basic" implants into "smart" implants for added functionality. These "smart" implants aim to reduce complications and improve patient outcomes by leveraging the cranial space to house advanced technologies, providing benefits such as real-time biosensing, and treatment of chronic neurological conditions.
View Article and Find Full Text PDFBackground: Few treatments are available for individuals with marked treatment-resistant depression (TRD).
Objective: Evaluate the safety and effectiveness of FDA-approved adjunctive vagus nerve stimulation (VNS) in patients with marked TRD.
Methods: This 12-month, multicenter, double-blind, sham-controlled trial included 493 adults with marked treatment-resistant major depression who were randomized to active or no-stimulation sham VNS for 12 months.