Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP. TP deficiency leads to plasma and tissue accumulations of thymidine and deoxyuridine which generate imbalances within the mitochondrial nucleotide pools, ultimately leading to mitochondrial dysfunction.1 MNGIE is characterized clinically by leukoencephalopathy, external ophthalmoplegia, peripheral polyneuropathy, cachexia, and enteric neuromyopathy manifesting as gastrointestinal dysmotility. The condition is relentlessly progressive, with patients usually dying from a combination of nutritional and neuromuscular failure at an average age of 37 years.2 Allogeneic hematopoietic stem cell transplantation (AHSCT) offers a permanent cure. Clinical and biochemical improvements following AHSCT have been reported but it carries a high mortality risk and is limited by matched donor availability.3 A consensus proposal for standardizing AHSCT recommends treatment of patients without irreversible end-stage disease and with an optimally matched donor; a majority of patients are ineligible and thus there is a critical requirement for an alternative treatment

Law and Modern Technology: Lack of Tech Knowledge in Legal Profession May Cause Injustice

There is no such field where technology hasn’t reached. It will be a dream to think something without technology. In today’s world every field requires tech knowledge. The courtroom and law offices have changed with the evolution of technology. Most courts don’t accept paper files anymore. Law offices use virtual file to store client information. However, due to old age or other reason a significant number of attorneys and judges are not competent in technology. This paper will examine the use of technology in our legal system and what problem arises due to lack of proper tech knowledge. Increasing use of computer and internet in the courtroom and law office, trial presentation, keeping client’s confidential data secure, legal researching, e-filing document with the court require tech knowledge. This paper will discuss the necessity of tech knowledge, ethical obligation, expert’s opinions and case laws to demonstrate that to practice laws nowadays requires tech knowledge. After examining all relevant materials, this paper has revealed that to comply with the digital world all legal professionals should have enough tech knowledge for better litigation and avoid errors in the litigation

Forensic Science: Complex Admissibility Standard for Scientific Evidence and Expert Witness\u27s Testimony

Modern science forces the world to accept new theories and invention. Science has invented several tools, which are used in the legal system to dispute criminal cases. Scientific evidence and expert witness testimony have weight in the courtroom because those are scientifically proved to be true. Even though there are few case laws and Federal rule of evidence 1975, still the admissibility standard is complex which may lead injustice. This article examines the Federal rule of evidence, case laws and scholars’ opinion to address the complexity of the admissibility standard of scientific evidence and expert testimony. The first legal question raised relating the admissibility standard was Frye v. United States (1923) where the court ruled that any scientific method or practice must be generally accepted by the scientific community at large. The First Federal rule of evidence was adopted in 1975. In 1980`s scientific scholars began to questioning the authenticity of the admitted scientific evidence saying the kind of expertise regularly accepted as admissible by courts was, frankly, \u27junk\u27 of scandalous lack of dependability. \u27 To address the problem of junk science in the courtroom, the United States Supreme Court decided Daubert v. Merrell Dow Pharma, Inc. (1993) In this case the Court addressed a new standard for determining the admissibility of scientific evidence in the federal courts of the U.S. After examining the case laws and statues, it revealed US has legal system has complex admissibility standard for scientific evidence and expert witness interpreted by the judges and may serve injustice to innocent people

IHDPS (Institute for Healthcare Delivery & Population Science) Poster - 2019

IHDPS (Institute for Healthcare Delivery & Population Science) Poster - 2019https://scholarlycommons.libraryinfo.bhs.org/research_education/1002/thumbnail.jp