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Neurometabolic
Conditions and other Hereditary Neuropediatric Diseases Database.
An "easy to use" database on neurometabolic disorders and other
neuropediatric diseases.
The
difficulties and complexities of making a rapid diagnosis when confronted
with a problem case, mainly an acutely sick newborn or an infant
with acute neurological symptoms and metabolic acidosis are very
stressful for most pediatricians and neonatologists because often
time runs against them. Having at hand the appropriate information
to make the right choices in the management of these cases is vital
for their day to day pediatric practice.
A
database with all the important factors involved in the diagnosis
of each of the organic acidurias and many other neurometabolic conditions
and alike disorders, often presenting with very similar clinical
pictures, has been elaborated having more than 100 different fields
of information. When the clinician is confronted with a problem
case compatible with an organic aciduria or other neurometabolic
condition, the search is simplified by the progressive elimination
of different possible diagnosis, giving at the same time the available
treatments at hand.
Our
database software describes the most important aspects of each condition:
incidence, clinical characteristics, symptoms and signs, associated
problems, laboratory findings present in each condition, precipitants,
stress testing, diagnostic methods, and treatment possibilities
using dietetic measures or supplements, discussing at last the imaging
main features and crisis management if they occur.
The
program is supplied in a CD-ROM. Instructions on how to use the
database are found in this booklet, and also in a help file in the
same program. It is necessary to have an IBM or IBM compatible personal
computer (PC). You need to have Windows 98, 2000 or XP in your computer
to install the program.
The
information contained in the database on these conditions are the
ones reported in the literature, as has been taken from multiple
sources, pediatric neurology textbooks and Internet sources (McKussick
databases, NORD book and database, and others). By using the database,
we hope we will be able to increase the chance of diagnosing these
conditions easier and become more familiar with their overall clinical
characteristics.
It
is not our intention to discuss the biochemical aspects of each
condition, metabolic pathways, etc. This can be found in a detailed
description in many authoritative textbooks. What we want to achieve
is a very practical way to detect the most probable conditions responsible
for the clinical symptoms, signs, and abnormal laboratory findings
that may present in newborns, infants, children, adolescents and
young adults at any given moment. The database is really an "electronic
book", where data can be manipulated in different ways to narrow
the diagnostic possibilities to a few entities and to initiate as
soon as possible the most appropriate management or treatment. We
really hope that by "playing" with the data, we will get familiarized
with the different conditions and their particular characteristics.
This database program is copyrighted and cannot be reproduced without
authorization from the publisher.
We
should keep in mind that no attempt has been made to classify these
conditions according to the metabolic pathways involved, to the
clinical symptoms or signs, or laboratory findings. All the conditions
are there for you to play and interact with them in any way you
like. The author does not have any responsibility or assume any
liability on how the data is used in the patient's diagnosis, management
and treatment. This database is only an educational tool to help
physicians and medical students to become more familiar with the
described conditions, but any specific recommendation or treatment
should be revised and followed according to standard medical textbooks
and other medical literature.
It
is our intention to update the information of the database every
3 months and to add new conditions, so eventually it will include
most neurometabolic degenerative and progressive disorders seen
in pediatric neurology as well as many static encephalopathies associated
with developmental delays and congenital malformations. We are planning
to ask "metabolic and genetic experts" in the US and other countries
to review our data, so the information contained is most updated
and clinically useful for the practicing physician. We will notify
each program owner when the updated file is available for distribution.
We
will deeply appreciate all the appropriate comments about the information
present in the database and all the suggestions how to improve the
whole program. If errors are present or omission of information
is detected, please let us know to correct it in the next updated
version of the program.
Lemar
Publishers will welcome pictures of patients from any described
condition, to place them in the picture files for that condition,
to be available in the next updated release (contributors are responsible
for obtaining the consent from the appropriate parties for publication
of medical pictures). For contributing with pictures, an acknowledgment
of origin, contributor and institution will be made next to the
picture. Also Lemar Publishers will welcome any comment about any
specific condition (error, addendum, new information that should
be added to it, etc.) For those contributors that will help NeurometPlus
be a better and reliable educational program, Lemar Publishers will
give them 50% discount of the already low cost of the updated next
version release (20% of the original new program cost). The program
has no expiration date, and users can update it at any time they
want with the most recent updated version. This first new version
of NeurometPlus 2004.1 has no pictures available yet, but pictures
will start to appear after out first updated release in the next
3 months.
From
the origins of the program, it was decided not using bibliographic
literature for the conditions included, due to the high complexities
involved on that work, but mainly because we wanted to keep NeurometPlus
as simple as possible. There are plenty sources of updated literature
in the Internet for each condition mentioned in the program (McKussick
database, Medline, National Library of Medicine, etc) which are
easily available to investigate on depth on the desired condition.
I
would like to that Debi Beagle for her patience and dedication for
her excellent work shown in making NeurometPlus the program it is.
Lemar Publishers is very grateful for her extraordinary effort in
making this project possible, giving the old Neuromet program a
facelift long time needed.
With
our best regards,
Leonardo Garcia, MD
Pediatric Neurologist
Medical Director, Lemar Publishers
Online
Demonstration
Take a quick online tour of NeuroMet Plus.
System
Requirements
- Intel
Pentium processor
-
Microsoft Windows 95, Microsoft Windows 98 Second Edition, Windows
Millennium Edition, Windows NT 4.0 with Service Pack 6, Windows
2000 with Service Pack 2.
-
32MB of RAM (64MB recommended)
-
30MB of available hard-disk space
-
CD or DVD-ROM drive
-
VGA or higher resolution monitor
-
Mouse or compatible input device
To
Purchase using Internet
At
present, NeurometPlus is not available for purchase using the Internet,
except when ordering a CD-ROM to be shipped by mail using our online
order form. Future plans include a downloadable version via
this website.
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