The evolving landscape of NF gene therapy: Hurdles and opportunities.

Neurofibromatosis type 1 (NF1)- and NF2-related schwannomatosis are rare autosomal dominant monogenic disorders characterized by a predisposition for nerve-associated tumors. Current treatments focus on symptomatic management, but advancements in the gene therapy field present unique opportunities to treat the genetic underpinnings and develop curative therapies for NF. Approaches such as nonsense suppression agents and oligonucleotide therapies are becoming more mature and have emerging preclinical data in the context of NF.

Microencapsulation of and within a Novel Polysaccharide-Based Core-Shell Formulation: Improving Probiotic Viability and Mucoadhesion.

Probiotics health benefits are hampered by long-term storage, gastrointestinal transit, and lack of adequate colonization within the colon. To this end, we have designed a core-shell structure that features an acid resistant core formulation with low water activity composed of alginate, hydroxypropyl methyl cellulose, and gellan gum (AHG) and a mucoadhesive shell made from chemically modified carboxymethyl chitosan with polyethylenimine (PEI-CMC). The structure of the core-shell microparticles was examined using scanning electron microscopy, and rheological measurements confirmed the improved ionic interactions between the core and the shell using the PEI-modified CMC.

Enzyme replacement therapy for hypophosphatasia-The current paradigm.

Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant-negative mutations in the gene that encodes TNSALP. The phenotype of HPP is very broad including abnormal bone mineralization, disturbances of calcium and phosphate metabolism, pain, recurrent fracture, short stature, respiratory impairment, developmental delay, tooth loss, seizures, and premature death.

Virtual screening and in vitro validation of natural compound inhibitors against SARS-CoV-2 spike protein.

The COVID-19 pandemic caused by the SARS-CoV-2 virus has led to a major public health burden and has resulted in millions of deaths worldwide. As effective treatments are limited, there is a significant requirement for high-throughput, low resource methods for the discovery of novel antivirals. The SARS-CoV-2 spike protein plays a key role in viral entry and has been identified as a therapeutic target.

The effect of thermal pasteurization, freeze-drying, and gamma irradiation on donor human milk.

The availability of donor human milk (DHM) is currently limited by the volumes that can be thermally pasteurized and kept in long-term cold storage. This study assesses the application of freeze-drying followed by low-dose gamma irradiation of DHM for simplified, safe long-term storage. Solid-phase microextraction (SPME) GC-MS, SDS and native PAGE gel electrophoresis demonstrated that the overall changes in volatile and protein profiles in Holder pasteurized and freeze-dried DHM was negligible compared to the natural variations in DHM.

The Effects of Thermal Pasteurisation, Freeze-Drying, and Gamma-Irradiation on the Antibacterial Properties of Donor Human Milk.

The most common pasteurisation method used by human milk banks is Holder pasteurisation. This involves thermal processing, which can denature important proteins and can potentially reduce the natural antimicrobial properties found in human milk. This study assesses the application of a hybrid method comprised of freeze-drying followed by low-dose gamma-irradiation for nonthermal donor human milk pasteurisation.