The Official Patient's Sourcebook on Lupus (20 page)

discuss databases and references used by physicians and scientists who

work in this area.

Physician Guidelines and Databases 105

Online Mendelian Inheritance in Man (OMIM)

The Online Mendelian Inheritance in Man (OMIM) database is a catalog of

human genes and genetic disorders authored and edited by Dr. Victor A.

McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was

developed for the World Wide Web by the National Center for

Biotechnology Information (NCBI)
.39 The dat
abase contains textual information, pictures, and reference information. It also contains copious

links to NCBI’s Entrez database of MEDLINE articles and sequence

information.

Go to
http://www.ncbi.nlm.nih.gov/Omim/searchomim.html
to search the

database.
Type “lupus nephritis” (or synonyms) in the search box, and click

“Submit Search.” If too many results appear, you can narrow the search by

adding the word “clinical.” Each report will have additional links to related

research and databases. By following these links, especially the link titled

“Database Links,” you will be exposed to numerous specialized databases

that are largely used by the scientific community. These databases are overly

technical and seldom used by the general public, but offer an abundance of

information. The following is an example of the results you can obtain from

the OMIM for lupus nephritis:

·
Complement Component 1, Q Subcomponent, Beta Polypeptide

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?120570

·
Complement Component 2 Deficiency

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?217000

·
Complement Component 3

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?120700

·
Complement Component 4b

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?120820

39 Adapted from
http://www.ncbi.nlm.nih.gov/
. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and

disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

106 Lupus Nephritis

·
Complement Component C1r Deficiency

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?216950

·
Fc Fragment of Igg, Low Affinity Iia, Receptor for

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?146790

·
Fk506-binding Protein 4

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?600611

·
Lupus Erythematosus, Systemic

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?152700

·
Peptide Ln1

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?601996

·
Phytanoyl-coa Hydroxylase

Web site: http://www.ncbi.nlm.nih.gov/htbin-

post/Omim/dispmim?602026

Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for

Biotechnology Information of the National Library of Medicine at the

National Institutes of Health. Go to
http://www.ncbi.nlm.nih.gov/disease/
, and browse the system pages to have a full view of important conditions

linked to human genes. Since this site is regularly updated, you may wish to

re-visit it from time to time. The following systems and associated disorders

are addressed:

·
Immune System:
Fights invaders.

Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s

disease, DiGeorge syndrome, familial Mediterranean fever,

immunodeficiency with Hyper-IgM, severe combined immunodeficiency.

Web site:
http://www.ncbi.nlm.nih.gov/disease/Immune.html

·
Muscle and Bone:
Movement and growth.

Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome,

Marfan syndrome, myotonic dystrophy, spinal muscular atrophy.

Web site:
http://www.ncbi.nlm.nih.gov/disease/Muscle.html

·
Signals:
Cellular messages.

Examples: Ataxia telangiectasia, Baldness, Cockayne syndrome,

Physician Guidelines and Databases 107

Glaucoma, SRY: sex determination, Tuberous sclerosis, Waardenburg

syndrome, Werner syndrome.

Web site:
http://www.ncbi.nlm.nih.gov/disease/Signals.html

·
Transporters:
Pumps and channels.

Examples: Cystic Fibrosis, deafness, diastrophic dysplasia, Hemophilia

A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic

kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome.

Web site:
http://www.ncbi.nlm.nih.gov/disease/Transporters.html

Entrez

Entrez
is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI).

These databases include nucleotide sequences, protein sequences,

macromolecular structures, whole genomes, and MEDLINE through

PubMed. Entrez provides access to the following databases:

·
PubMed:
Biomedical literature (PubMed),

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

·
Nucleotide Sequence Database (Genbank):

Web site:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

·
Protein Sequence Database:

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

·
Structure:
Three-dimensional macromolecular structures,

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

·
Genome:
Complete genome assemblies,

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

·
PopSet:
Population study data sets,

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

·
OMIM:
Online Mendelian Inheritance in Man,

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

·
Taxonomy:
Organisms in GenBank,

Web site:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

·
Books:
Online books,

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

108 Lupus Nephritis

·
ProbeSet:
Gene Expression Omnibus (GEO),

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

·
3D Domains:
Domains from Entrez Structure,

Web site:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

·
NCBI’s Protein Sequence Information Survey Results:

Web site:
http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

To access the Entrez system at the National Center for Biotechnology

Information, go to
http://www.ncbi.nlm.nih.gov/entrez/
, and then select the database that you would like to search. The databases available are listed in

the drop box next to “Search.” In the box next to “for,” enter “lupus

nephritis” (or synonyms) and click “Go.”

Jablonski’s Multiple Congenital Anomaly/Mental Retardation

(MCA/MR) Syndromes Database
40

This online resource can be quite useful. It has been developed to facilitate

the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely

omitted in existing reference sources due to space limitations of the printed

form.

At
http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html
you

can also search across syndromes using an alphabetical index
.
You can also search at
http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html
.

The Genome Database
41

Established at Johns Hopkins University in Baltimore, Maryland in 1990, the

Genome Database (GDB) is the official central repository for genomic

mapping data resulting from the Human Genome Initiative. In the spring of

1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for

Sick Children in Toronto, Ontario assumed the management of GDB. The

Human Genome Initiative is a worldwide research effort focusing on

structural analysis of human DNA to determine the location and sequence of

the estimated 100,000 human genes. In support of this project, GDB stores

40 Adapted from the National Library of Medicine:

http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html
.

41 Adapted from the Genome Database:

http://gdbwww.gdb.org/gdb/aboutGDB.html#mission
.

Physician Guidelines and Databases 109

and curates data generated by researchers worldwide who are engaged in

the mapping effort of the Human Genome Project (HGP). GDB’s mission is

to provide scientists with an encyclopedia of the human genome which is

continually revised and updated to reflect the current state of scientific

knowledge. Although GDB has historically focused on gene mapping, its

focus will broaden as the Genome Project moves from mapping to sequence,

and finally, to functional analysis.

To access the GDB, simply go to the following hyperlink:

http://www.gdb.org/
. Search “All Biological Data” by “Keyword.” Type

“lupus nephritis” (or synonyms) into the search box, and review the results.

If more than one word is used in the search box, then separate each one with

the word “and” or “or” (using “or” might be useful when using synonyms).

This database is extremely technical as it was created for specialists. The

articles are the results which are the most accessible to non-professionals and often listed under the heading “Citations.” The contact names are also

accessible to non-professionals.

Specialized References

The following books are specialized references written for professionals

interested in lupus nephritis (sorted alphabetically by title, hyperlinks

provide rankings, information, and reviews at Amazon.com):

·
Adult and Pediatric Urology (3-Volume Set) (Includes a Card to Return

to Receive the Free CD-ROM)
by Jay Y. Gillenwater, M.D. (Editor), et al; Hardcover - 2828 pages, 4th edition (January 15, 2002), Lippincott,

Williams & Wilkins Publishers; ISBN: 0781732204;

http://www.amazon.com/exec/obidos/ASIN/0781732204/icongroupinterna

·
Campbell’s Urology (4-Volume Set)
by Meredith F. Campbell (Editor), et al; Hardcover, 8th edition (May 15, 2002), W B Saunders Co; ISBN:

0721690580;

http://www.amazon.com/exec/obidos/ASIN/0721690580/icongroupinterna

·
Clinical Manual of Urology
by Philip M. Hanno, M.D. (Editor), et al;

Paperback - 924 pages, 3rd edition (May 2, 2001), McGraw-Hill

Professional Publishing; ISBN: 0071362010;

http://www.amazon.com/exec/obidos/ASIN/0071362010/icongroupinterna

·
Comprehensive Urology
by George Weiss O’Reilly; Hardcover - 724

pages, 1st edition (January 15, 2001), Elsevier Science, Health Science

Division; ISBN: 0723429499;

http://www.amazon.com/exec/obidos/ASIN/0723429499/icongroupinterna

110 Lupus Nephritis

·
Manual of Urology: Diagnosis & Therapy
by Mike B. Siroky (Editor), et al; Spiral-bound - 362 pages, 2nd spiral edition (October 15, 1999),

Lippincott, Williams & Wilkins Publishers; ISBN: 078171785X;

http://www.amazon.com/exec/obidos/ASIN/078171785X/icongroupinterna

·
The Scientific Basis of Urology
by A.R. Mundy (Editor), et al; 531 pages -

1st edition (March 15, 1999), Isis Medical Media; ISBN: 1899066217;

http://www.amazon.com/exec/obidos/ASIN/1899066217/icongroupinterna

·
Smith’s General Urology
by Emil A. Tanagho (Editor), et al; Paperback -

888 pages, 15th edition (January 21, 2000), McGraw-Hill Professional

Publishing; ISBN: 0838586074;

http://www.amazon.com/exec/obidos/ASIN/0838586074/icongroupinterna

·
Urology (House Officer Series)
by Michael T. MacFarlane, M.D.;

Paperback - 3rd edition (January 2001), Lippincott, Williams & Wilkins

Publishers; ISBN: 0781731461;

http://www.amazon.com/exec/obidos/ASIN/0781731461/icongroupinterna

·
Urology for Primary Care Physicians
by Unyime O. Nseyo (Editor), et al; Hardcover - 399 pages, 1st edition (July 15, 1999), W B Saunders Co; ISBN:

0721671489;

http://www.amazon.com/exec/obidos/ASIN/0721671489/icongroupinterna

Vocabulary Builder

Polypeptide:
A peptide which on hydrolysis yields more than two amino

acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU]

Dissertations 111

CHAPTER 10. DISSERTATIONS ON LUPUS NEPHRITIS

Overview

University researchers are active in studying almost all known diseases. The

result of research is often published in the form of Doctoral or Master’s

dissertations. You should understand, therefore, that applied diagnostic