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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
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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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