Publications by authors named "John Bosch"

Article Synopsis
  • The study aimed to assess the effectiveness of carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy using a noninvasive method (sgNIPS) that doesn’t need the father's carrier screening.
  • Out of 9,151 pregnant individuals, 18.2% were found to be carriers, and sgNIPS provided informative results for 98.7% of those screened, with a high negative predictive value of 99.4%.
  • The findings suggest that using sgNIPS during pregnancy can offer accurate fetal risk assessments, making it a practical option for prenatal counseling, especially considering challenges with traditional carrier screening.
View Article and Find Full Text PDF

Purpose: To compare the outcomes of patients with intermediate risk prostate cancer (IR-PCa) treated with low-dose rate I-125 seed brachytherapy (LDR-BT) and targeted dose painting of a histologic dominant intra-epithelial lesion (DIL) to those without a DIL.

Methods: 455 patients with IR-PCa were treated at a single center with intra-operatively planned LDR-BT, each following the same in-house dose constraints. Patients with a DIL on pathology had hot spots localized to that region but no specific contouring during the procedure.

View Article and Find Full Text PDF

Objective: A long-term tracheostomy can be a life-altering event and can have significant effects on patients' quality of life (QOL). There is currently no instrument available to evaluate tracheostomy-specific QOL. To address this deficiency, the objective of this study was to create and preliminarily validate a pilot tracheostomy-specific QOL questionnaire to assess its feasibility.

View Article and Find Full Text PDF

Background: Trans-nasal flexible fibre-optic laryngoscopy (TFFL) is an essential skill for otolaryngologists. There is evidence to suggest that simulators help residents acquire procedural skills. The objective of this study was to examine the effect of simulation on endoscopy skill acquistion.

View Article and Find Full Text PDF

The speed, accuracy, efficiency, and cost-effectiveness of DNA sequencing have been improving continuously since the initial derivation of the technique in the mid-1970s. With the advent of massively parallel sequencing technologies, DNA sequencing costs have been dramatically reduced. No longer is it unthinkable to sequence hundreds or even thousands of genes in a single individual with a suspected genetic disease or complex disease predisposition.

View Article and Find Full Text PDF

The Drosophila sex-determination switch gene Sex-lethal (Sxl) and the X-chromosome signal element genes (XSEs) that induce the female-specific expression of Sxl are transcribed extremely early in development when most of the genome of this organism is still silent. The DNA sequence CAGGTAG had been implicated in this pre-cellular blastoderm activation of sex-determination genes. A genome-wide computational search, reported here, suggested that CAGGTAG is not specific to early sex-determination genes, since it is over-represented upstream of most genes that are transcribed pre-cellular blastoderm, not just those involved in sex determination.

View Article and Find Full Text PDF