utilization of optical coherence tomography in the assessment of melasma activity and differential diagnosis

Original title: “The Utilization of Optical Coherence Tomography in the Assessment of Melasma Activity and Differential Diagnosis.”

eosinophilic fasciitis in pediatric patients a rare but distinct autoimmune fibrosing disorder

Original title: “Eosinophilic Fasciitis in Pediatric Patients: A Rare but Distinct Autoimmune Fibrosing Disorder.”

bardet biedl syndrome in india genotypic spectrum and clinical features from a single centre cohort

Original title: “Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.”

experience with patients presenting with the clinical features of holt oram syndrome a single center retrospective study

Original title: “Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.”

estimating risk differences using large healthcare data networks for medical product post market safety outcomes in a distributed data setting and allowing for active post market surveillance

Original title: “Estimating Risk Differences Using Large Healthcare Data Networks for Medical Product Post-Market Safety Outcomes in a Distributed Data Setting and Allowing for Active Post-Market Surveillance.”

mycoplasma hominis toe osteomyelitis a rare and unusual bone infection

Original title: “Mycoplasma hominis toe osteomyelitis: a rare and unusual bone infection.”

rna seq analysis reveals altered gene expression profiles in hmec 1 cells overexpressing kras gene associated with brain arteriovenous malformation

Original title: “RNA-seq analysis reveals altered gene expression profiles in HMEC-1 cells overexpressing KRAS gene associated with brain arteriovenous malformation.”

international delphi study on barriers to on demand treatment of hereditary angioedema attacks

Original title: “An International Delphi Study on Barriers to On-Demand Treatment of Hereditary Angioedema Attacks.”

acute retinal detachment following ozurdex implant in a nonvitrectomized eye

Original title: “Acute Retinal Detachment Following Ozurdex Implant in a Nonvitrectomized Eye.”

longitudinal assessment of the juvenile systemic sclerosis severity score application in the national registry for childhood onset scleroderma

Original title: “Longitudinal Assessment of the Juvenile Systemic Sclerosis Severity Score: Application in the National Registry for Childhood Onset Scleroderma.”

pleuroparenchymal fibroelastosis with a nodular shadow considered to be rounded atelectasis a case report

Original title: “Pleuroparenchymal Fibroelastosis With a Nodular Shadow Considered To Be Rounded Atelectasis: A Case Report.”

distribution of sentinel nodes in non parotid salivary gland tumors a feasibility study

Original title: “Distribution of Sentinel Nodes in Non-Parotid Salivary Gland Tumors-A Feasibility Study.”

biomarker directed aptamer panels for diagnosis and differentiation of neuroendocrine tumors

Original title: “Biomarker-directed aptamer panels for diagnosis and differentiation of neuroendocrine tumors.”

prevalence and treatment of guitar related medical problems a systematic review of clinical studies

Original title: “Prevalence and Treatment of Guitar-Related Medical Problems: A Systematic Review of Clinical Studies.”

type 2 lepra reaction following antituberculosis treatment initiation in an elderly male with coexisting hansen s disease a case report

Original title: “Type 2 Lepra Reaction Following Antituberculosis Treatment Initiation in an Elderly Male With Coexisting Hansen's Disease: A Case Report.”

According to a recent LinkedIn post from AAVantgarde Bio, the company is using Rare Disease Day to spotlight the unmet needs of patients with rare inherited retinal... According to a recent LinkedIn post from AAVantgarde Bio, the company is using Rare Disease Day to spotlight the unmet needs of patients with rare inherited retinal diseases, or IRDs. The company’s LinkedIn post highlights that its sole focus is on rare diseases, with an emphasis on developing next‑generation gene therapies for large gene‑related IRDs such as Usher Syndrome type 1B and Stargardt disease. AAVantgarde Bio suggests it is pushing AAV vector technology to enable delivery of large genes, aiming to address the genetic root causes of targeted diseases and improve patient quality of life. For investors, this focus on technically challenging large‑gene delivery may position the company within a high‑risk, high‑reward segment of the gene therapy landscape, where successful proof‑of‑concept could be a differentiating asset. The post further frames Rare Disease Day as a reminder of the role of patients, families, clinicians, researchers, and advocates in driving progress, and it reiterates the company’s commitment to translating scientific innovation into meaningful outcomes. While the post does not provide concrete milestones, timelines, or financing details, its emphasis on underserved IRD populations may signal continued strategic focus on orphan indications that could qualify for regulatory incentives and premium pricing if therapies reach market.

Original title: “AAVantgarde Bio Emphasizes Gene Therapy Focus on Inherited Retinal Diseases - TipRanks.com”

Observed annually on the last day of February—most recently on February 28, 2026—Rare Disease Day serves as a vital global platform to raise awareness for the Current investigational work includes novel capsids optimized for intravitreal delivery, the use of different promoters to target specific retinal cell types, and dual‑vector strategies aimed at genes too large to fit into a single AAV genome. ... Inborn errors of metabolism are a natural fit for liver‑directed AAV therapy because many disease‑causing enzymes are normally produced in hepatocytes, and relatively modest levels of restored activity can be clinically meaningful. Ongoing trials are exploring AAV therapy for glycogen storage diseases, urea cycle disorders such as ornithine transcarbamylase deficiency, and disorders like phenylketonuria. Neurologic disease has become one of the most intensively targeted categories for AAV gene therapy. Many CNS disorders share three attractive features for this modality: they are often driven by a single gene defect, are relentlessly progressive, and currently lack curative options. As of late 2024–2025, the FDA has licensed multiple AAV vector-based gene therapies across at least six distinct disease areas: inherited retinal dystrophy (RPE65), spinal muscular atrophy (SMA), hemophilia A, hemophilia B, DMD, and AADC deficiency. Notably, some areas now benefit from more than one approved AAV product, such as hemophilia B and SMA (2). Table 1. Recent approved AAV gene therapies. ... Roctavian (valoctocogene roxaparvovec) from BioMarin treats hemophilia A, marked by low factor VIII. It gained EMA approval in 2022 and FDA in 2023 as the first for this disorder. Using AAV5, it carries a working F8 gene for factor VIII to the liver, where cells make the protein.

Original title: “PackGene's Advanced Capabilities in AAV Gene Therapy for Rare Diseases | PackGene Biotech”

caroli disease associated with autosomal recessive polycystic kidney disease ct imaging features of a case report

Original title: “Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.”

sexual functioning mental health and quality of life in 46 xx male a case report

Original title: “Sexual functioning, mental health and quality of life in 46,XX male: a case report.”

fecal microbiota transplantation reduces susceptibility to post antibiotic clp induced sepsis by modulating the gut microbiota and its metabolites

Original title: “Fecal microbiota transplantation reduces susceptibility to post-antibiotic CLP-induced sepsis by modulating the gut microbiota and its metabolites.”