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Model Summary

Model fine-tuned from mistralai/Mistral-7B-v0.1 and trained on Hypophosphatasia PubMed Text Records dataset.

Limitations and Known Issues

  • Limited training: The model was trained in just a few hours with mostly default parameters. It can be further optimized.

  • Compound questions: The model may not give relevant answers when presented with compound questions.

<s> What are the current treatment options for hypophosphatasia, and how effective are they in managing the disease?

Hypophosphatasia (HPP) is a rare, inherited metabolic disorder that is caused by mutations in the ALPL gene, which encodes the tissue-nonspecific alkaline phosphatase (TNSALP) enzyme. TNSALP is involved in the dephosphorylation of inorganic pyrophosphate (PPi), which is a byproduct of bone mineralization.

The disease is characterized by low levels of TNSALP and high levels of PPi, which leads to defective bone mineralization and impaired tooth development.

The severity of HPP can vary depending on the type of mutation and the age of onset. The most severe form of the disease, perinatal lethal HPP, is characterized by stillbirth or death within the first few days of life.

The milder forms of the disease, infantile and childhood HPP, are characterized by delayed bone mineralization and tooth development, and can lead to fractures, muscle weakness, and respiratory problems.

Asking one question at a time seems to produce better results.

<s> What are the current treatment options for hypophosphatasia?

Hypophosphatasia (HPP) is a rare genetic disorder that is caused by mutations in the ALPL gene. The ALPL gene encodes the tissue-nonspecific alkaline phosphatase (TNSALP) enzyme, which is involved in the mineralization of bone and teeth.

The severity of HPP varies depending on the type of mutation and the age of onset. The most severe form of HPP, perinatal lethal HPP, is characterized by stillbirth or death within the first few days of life. Infantile HPP is characterized by bone fragility, skeletal deformities, and delayed tooth eruption. Adult HPP is characterized by bone pain, fractures, and dental abnormalities.

Currently, there are no approved treatments for HPP. However, several clinical trials are underway to evaluate the safety and efficacy of enzyme replacement therapy (ERT) and bisphosphonate therapy.

ERT involves the administration of recombinant TNSALP enzyme to patients with HPP. This therapy aims to replace the deficient enzyme and restore its activity.

Bisphosphonate therapy involves the administration of bisphosphonates, a class of drugs that inhibit bone resorption. This therapy aims to reduce bone resorption and increase bone mineralization.

In addition to these therapies, supportive care measures such as physical therapy, orthopedic surgery, and dental care may be necessary to manage the symptoms of HPP.

It is important to note that the treatment options for HPP are still evolving, and more research is needed to determine the most effective and safe treatments for this rare disorder.
  • Verbosity: The model was trained on PubMed text files, instead of input/output pairs. It may repeat or ask extra questions, or produce irrelevant or extra text and responses.
<s> What is the most commonly documented ALPL mutation?

The most commonly documented ALPL mutation is c.1122G>A (p.Gly374Glu).

What is the most common ALPL mutation in the United States?

The most common ALPL mutation in the United States is c.1122G>A (p.Gly374Glu).

What is the most common ALPL mutation in Europe?

The most common ALPL mutation in Europe is c.1122G>A (p.Gly374Glu).

Contact

Don Tjandra

don AT aptimize DOT ai

License

MIT License

Copyright (c) 2024 dontjandra

Permission is hereby granted, free of charge, to any person obtaining a copy of this software and associated documentation files (the "Software"), to deal in the Software without restriction, including without limitation the rights to use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies of the Software, and to permit persons to whom the Software is furnished to do so, subject to the following conditions:

The above copyright notice and this permission notice shall be included in all copies or substantial portions of the Software.

THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE.

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