Hubmed

• January 26th, 2007

Hubmed is a search interface for Pubmed which permits the rapid exportation of citations to endnote and other reference managers. Also, it facilitates the conversion of reference lists from PDFs to search results.

 It can prove very useful when writing a paper or reviewing literature.

 Philippe Campeau

Primary hyperoxaluria mouse model and gene therapy.

• January 21st, 2007

Primary hyperoxaluria mouse model and gene therapy.
Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18249-54.

Alanine-glyoxylate aminotransferase-deficient mice, a model for primary
hyperoxaluria that responds to adenoviral gene transfer.

Salido EC, Li XM, Lu Y, Wang X, Santana A, Roy-Chowdhury N, Torres A, Shapiro
LJ, Roy-Chowdhury J.
In this important PNAS paper, the authors describe the creation of a mouse model for primary hyperoxaluria type 1. They also provide a proof of concept for liver directed gene therapy of primary hyperoxaluria using an adenoviral vector. However, I would have liked to see if the vector-treated mice were protected against ethylene glycol induced nephrocalcinosis.

For more information on primary hyperoxaluria, you can refer to chapter 133 of OMMBID.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Journal articles

• January 16th, 2007

Created using Internet Explorer 7, Google reader, Intelligentteams.com and Grazr. Use the buttons on top of the reader to change the view or open in a new window. 

Philippe Campeau

• January 15th, 2007

Feed Shark

New IEM: Mitochondrial Phosphate-Carrier Deficiency

• January 12th, 2007

Mitochondrial Phosphate-Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, and Wolfgang Sperl
The American Journal of Human Genetics, volume 80 (2007)

 
This group describes two patients from the same family, who presented with hypotonia and cardiomyopathy. Investigations revealed defective ATP synthesis in muscle. After excluding potentially culptrit genes, they sequenced SLC25A3, and identified and then proved a deficiency in the mitochodrial phosphate carrier. And thus a new inborn error of metabolism is described.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

A New Year’s baby’s newborn screening

• January 11th, 2007

From Bertalan Meskó at Scienceroll

Read the rest of this entry »

Human teratogens- Course

• January 10th, 2007

Dr Lewis B. Holmes, M.D. of the Genetic Unit at the MassGeneral Hospital for Children is organizing a course on Human Teratogens.

HUMAN TERATOGENS
Environmental Factors Which Cause Birth Defects
APRIL 22-24, 2007

offered by the
MASSACHUSETTS GENERAL HOSPITAL, DEPARTMENT OF PEDIATRICS

at the
O’KEEFFE AUDITORIUM
MASSACHUSETTS GENERAL HOSPITAL

under the direction of
Lewis B. Holmes, M.D. and Associates

Guest Speakers

Michael F. Greene, M.D., Massachusetts General Hospital
Page B. Pennell, M.D., Emory University
Melissa S.Tassinari, Ph.D., Pfizer, Inc.
Martha M. Werler, Sc.D., Boston University

For more information, please refer to the brochure.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Conversations in Genetics

• January 7th, 2007

For interviews with important figures of Human Genetics, visit Conversations in Genetics.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

The benefits of screening for MCAD

• January 5th, 2007

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase defi ciency in Australia: a cohort study
Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh
Lancet 2007; 369: 37–42

This large australian study compared a population of children who were screened for MCAD and an unscreened population. One of the adavntage of this study over others on the same topic is that they have taken into consideration clinically diagnosed contemporaneous patients born in states where no MCAD screening was performed. They can thus have a better assessment of the number of patients which are never diagnosed.

They have proven that screening for MCAD deficiency provides a reduction in mortality and morbidity.

For more information on MCAD deficiency, see OMMBID chapter 101.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Historical figures

• January 3rd, 2007

Paul Polani and the development of medical genetics

Peter S. Harper, Human Genetics, Vol 120, Issue 5, p.723- 731

—-
   
A 60-year tale of spots, maps, and genes.
Annu Rev Genomics Hum Genet. 2006;7:1-27.
McKusick VA.

Happy reading!

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

• Previous Entries