Evaluating the Efficacy of Combined Platelet-Rich Plasma and Microneedling for Aesthetic Rejuvenation of the Periorbital Area: A Randomized, Blinded Cohort Study.

Introduction: Microneedling, a technique involving controlled dermal microwounding, and platelet-rich plasma (PRP) injections are both employed for skin rejuvenation. While both treatments individually show promise, limited research has explored their combined efficacy. This study aimed to evaluate the effectiveness of combining PRP injections with microneedling for aesthetic concerns around the eyes under standardized conditions.

Non-Facial Skin Rejuvenation of the Neck, Chest, and Hands. Part One: Using Injections.

Background: The demand for aesthetic procedures aimed at restoring and preserving a youthful appearance is growing. While numerous non-surgical facial rejuvenation techniques are available, there is a need for a comprehensive review of clinic-based procedures targeting non-facial body parts.

Aims: This review aims to describe and evaluate clinic-based techniques for rejuvenating the neck, chest, and hands, focusing on various types of fillers and other non-invasive procedures.

Nonfacial Skin Rejuvenation of the Neck, Chest, and Hands. Part Two: Using Laser Techniques.

Background: Interest in aesthetic procedures that help maintain a youthful look is on the rise. While many nonsurgical techniques focus on facial rejuvenation, there is a need for a detailed review of treatments, specifically for nonfacial areas.

Aim: This review explores various clinic-based methods for revitalizing the neck, chest, and hands, with a particular emphasis on different laser treatments.

Replication kinetics and cytopathic effect of feline calicivirus in feline corneal epithelial cells.

Objective: To determine the replication kinetics and cytopathic effect (CPE) of feline calicivirus (FCV) in feline corneal epithelial cells (FCEC).

Animals Studied: Seven archived FCV isolates and one archived feline herpesvirus type 1 (FHV-1) isolate, previously obtained from eight domestic short hair cats.

Procedures: FCV RNA was extracted for sequencing using Illumina MiSeq, to identify three genomically diverse isolates for further testing.

Intrathecal Gene Therapy for Giant Axonal Neuropathy.

Background: Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in , the gene encoding gigaxonin.

Methods: We conducted an intrathecal dose-escalation study of scAAV9/JeT-GAN (a self-complementary adeno-associated virus-based gene therapy containing the transgene) in children with giant axonal neuropathy. Safety was the primary end point.

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.

Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle weakness, cardiomyopathy with associated severe arrhythmias, and respiratory insufficiency, and are collectively known as desminopathies. While most DES pathogenic variants act via a dominant mechanism, recessively acting variants have also been reported. Currently, there are no effective therapeutic interventions for desminopathies of any type.

PIEZO2-dependent rapid pain system in humans and mice.

The PIEZO2 ion channel is critical for transducing light touch into neural signals but is not considered necessary for transducing acute pain in humans. Here, we discovered an exception - a form of mechanical pain evoked by hair pulling. Based on observations in a rare group of individuals with PIEZO2 deficiency syndrome, we demonstrated that hair-pull pain is dependent on PIEZO2 transduction.

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.

Background: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital muscle disease caused by mutations in the MTM1 gene that result in profound muscle weakness, significant respiratory insufficiency, and high infant mortality. There is no approved disease-modifying therapy for XLMTM. Resamirigene bilparvovec (AT132; rAAV8-Des-hMTM1) is an investigational adeno-associated virus (AAV8)-mediated gene replacement therapy designed to deliver MTM1 to skeletal muscle cells and achieve long-term correction of XLMTM-related muscle pathology.

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.

Background: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by mutations in MTM1. No therapies are approved for this disease. We aimed to assess the safety and efficacy of resamirigene bilparvovec, which is an adeno-associated viral vector serotype 8 delivering human MTM1.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.

Methods: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.

Results: Biallelic variants in CRELD1 were found in 18 participants from 14 families.

261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.

Adeno-associated virus (AAV) gene therapies are demonstrating much promise in the area of neuromuscular disorders. There are now therapies in clinical trials or real-world use for several disorders including spinal muscular atrophy and Duchenne muscular dystrophy. However, there have been several concerning reports of serious adverse events, including deaths.

Longitudinal sleep multi-trajectories from age 1 to 5.5 years and their early correlates: results from the Étude Longitudinale Française depuis l'Enfance birth cohort study.

Study Objectives: To identify sleep multi-trajectories in children from age 1 to 5.5 years and their early correlates.

Methods: We collected early family, maternal, and child characteristics, including children's nighttime sleep duration (NSD) and daytime sleep duration (DSD), night waking (NW), and sleep-onset difficulties (SOD), by parental phone interviews at age 2 months and 1-, 2-, 3.

Sun protection use and habits in the LGBTQI+ community in Lebanon: A cross sectional study.

Background: Sun exposure is an extrinsic risk factor for skin aging, wrinkle formation, and the development of skin cancer, namely melanoma, basal cell carcinoma (BCC), and squamous cell carcinoma (SCC). Sun protection measures have emerged as an important means of preventing these harmful effects. Studies have shown that sexual minority men have a greater prevalence of skin cancer than heterosexual men.

PIEZO2 and perineal mechanosensation are essential for sexual function.

Despite the potential importance of genital mechanosensation for sexual reproduction, little is known about how perineal touch influences mating. We explored how mechanosensation affords exquisite awareness of the genitals and controls reproduction in mice and humans. Using genetic strategies and in vivo functional imaging, we demonstrated that the mechanosensitive ion channel PIEZO2 (piezo-type mechanosensitive ion channel component 2) is necessary for behavioral sensitivity to perineal touch.

PIEZO2 in somatosensory neurons controls gastrointestinal transit.

The gastrointestinal tract is in a state of constant motion. These movements are tightly regulated by the presence of food and help digestion by mechanically breaking down and propelling gut content. Mechanical sensing in the gut is thought to be essential for regulating motility; however, the identity of the neuronal populations, the molecules involved, and the functional consequences of this sensation are unknown.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

Statins are a mainstay intervention for cardiovascular disease prevention, yet their use can cause rare severe myopathy. HMG-CoA reductase, an essential enzyme in the mevalonate pathway, is the target of statins. We identified nine individuals from five unrelated families with unexplained limb-girdle like muscular dystrophy and bi-allelic variants in HMGCR via clinical and research exome sequencing.

A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment.

Adeno-associated virus (AAV) gene therapies are generating much excitement in the rare disease field, particularly for previously untreatable neurological conditions. Efficacy has been claimed for several gene therapy products and the number of trials is rapidly increasing. However, reports of severe treatment-related adverse reactions are emerging, including death.

-related congenital myopathy: expansion of the clinical and genetic spectrum.

Background: Biallelic pathogenic variants in have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by proximal muscle weakness with survival into adulthood.

Objective: We report eight patients from four unrelated families with biallelic pathogenic variants in exon 15 of .

Methods: Whole exome sequencing was used to detect variants in .

Biallelic variants in are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.

Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synthase activity: an essential early step in the biosynthesis of phosphatidylglycerol and cardiolipin. Cardiolipin is a mitochondria-specific phospholipid that is important for many mitochondrial processes.