Posts Categorized: Treatment



Creation of a fully intact and functional organ

Posted by & filed under Part 20: IMMUNE AND DEFENSE SYSTEMS, Treatment.

Bredenkamp et al. recently described how cellular reprogramming can be used to generate an entire organ for transplantation, using cells manipulated in the lab. The novelty of this study compared to past studies demonstrating the production of defined cell types in vitro, is that Bredenkamp et al. describe for the first time the creation of […]



Sapropterin dihydrochloride in maternal phenylketonuria

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Feillet F et al. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. J Inherit Metab Dis. 2014 May 1. [Epub ahead of print] Feillet et al describe the use of sapropterin dihydrochloride during pregnancy in eight cases of maternal phenylketonuria. Seven of eight patients (who were known to be responsive […]



Genomically recoded organisms

Posted by & filed under Part 03: GENERAL THEMES, Treatment.

The fact that the canonical genetic code is nearly universal is thought to allow natural organisms to share beneficial traits via horizontal gene transfer. However, given that genetically modified organisms also share the same genetic code, they are susceptible to viruses and capable of releasing recombinant genetic material, such as resistance genes, into the environment. […]



CRISPR-based platform for RNA-guided DNA targeting

Posted by & filed under Treatment.

A naturally observed phenomenon in prokaryotic organisms is the CRISPR/Cas adaptive immune system for site-specific DNA cleavage. The clustered regularly interspaced short palindromic repeats (CRISPR)-associated enzyme Cas9 is an RNA-guided endonuclease that uses RNA-DNA base-pairing to target foreign DNA in bacteria. Cas9-guide RNA complexes are also effective genome engineering agents in animals and plants. The […]



Suboptimal cognitive functioning in Tyrosinemia I despite treatment?

Posted by & filed under Treatment.

A cross-sectional study was performed by  Bendadi et al. to assess the cognitive functioning of children with tyrosinemia type I under treatment (with nitisinone and protein-restricted diet) compared with their unaffected siblings. Intelligence was measured using age-appropriate Wechsler Scales. Average total IQ score in 10 patients with tyrosinemia type I receiving nitisinone was significantly lower […]



Hyperammonemia pathophysiology

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

The mechanisms leading to the toxicity of hyperammonemia have been long known to be complex. For a review of what was known in 2012, see this article: Auron A, Brophy PD. Pediatr Nephrol. 2012 Feb;27(2):207-22. doi: 10.1007/s00467-011-1838-5. Epub 2011 Mar 23. Hyperammonemia in review: pathophysiology, diagnosis, and treatment. In this review, they discuss amino acid […]



External stressors reprogramming somatic to pluripotent cells

Posted by & filed under Tools, Treatment.

A new means of reprogramming somatic cells into pluripotent cells has been recently published by Obocata et al. in Nature. The method is called stimulus-triggered acquisition of pluripotency (STAP) and, in contrast to previous methods; it does not require nuclear transfer or genetic manipulation. Rather, STAP involves exposure of the cells to an external stressor […]



Newborn screening for pyridoxine-dependent epilepsy

Posted by & filed under Part 17: VITAMINS, Treatment.

LC-MS/MS based newborn screening for pyridoxine-dependent epilepsy (PDE) appears to be feasible based on Jung et al. (2013).  ?-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE. Both compounds appeared to be significantly increased compared to samples from unaffected individuals (in newborn DBS stored at -20°C; but also in […]



Actionable Incidental Findings in 1,000 Participants’ Exomes

Posted by & filed under Exome sequencing, Treatment.

Dorschner et al. estimated the number of expected actionable findings in a cohort of 1,000 participants randomly selected from the National Heart, Lung, and Blood Institute Exome Sequencing Project (500 European; 500 African-descent individuals). The participants were screened for variants in 114 genes pre-selected by an expert panel for their association with medically actionable genetic […]



Neurocognitive functioning in adults with PKU

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Weglage et al. investigated 57 adult patients with early-treated classical PKU (mean age 31 years) and 46 healthy controls, matched for age and socioeconomic status. MRI brain and evaluation for IQ, as well as for attention and information-processing were performed in all patients and controls. Neuropsychological assessments and MRI were repeated at a five-year-follow up. Over […]