Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.

Mutations in the PCDH15 gene, encoding protocadherin-15, are among the leading causes of Usher syndrome type 1 (USH1F), and account for up to 12% USH1 cases worldwide. A founder truncating variant of PCDH15 has a ∼2% carrier frequency in Ashkenazi Jews accounting for nearly 60% of their USH1 cases. Although cochlear implants can restore hearing perception in USH1 patients, presently there are no effective treatments for the vision loss due to retinitis pigmentosa.

Proposed therapy, developed in a -deficient mouse, for progressive loss of vision in human Usher syndrome.

Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for ~60% of their USH1 cases.

Identification of significant risks in pediatric acute lymphoblastic leukemia (ALL) through machine learning (ML) approach.

Pediatric acute lymphoblastic leukemia (ALL) through machine learning (ML) technique was analyzed to determine the significance of clinical and phenotypic variables as well as environmental conditions that can identify the underlying causes of child ALL. Fifty pediatric patients (n = 50) included who were diagnosed with acute lymphoblastic leukemia (ALL) according to the inclusion and exclusion criteria. Clinical variables comprised of the blood biochemistry (CBC, LFTs, RFTs) results, and distribution of type of ALL, i.

Polymorphism of Interleukin-10 (IL-10, -1082 G/A) and Interleukin-28B (IL-28B, C/T) In Pediatric Acute Lymphoblastic Leukemia (ALL).

We conducted genotypic analyses of interleukin-10 (IL-10) (-1082 G/A; GG, GA, AA) and interleukin-28B (CC, CT, TT) genes polymorphisms in acute lymphoblastic leukemia (ALL) pediatric patients in descriptive study to evaluate the prevalence of these mutations. In amplification refractory mutation system-PCR (ARMS-PCR), one reaction was carried out for each patient's DNA sample. For IL-28B gene, two forward and two reverse primers specific for C-allele and T-allele were used separately.