USE CASES
Intelligence Briefings
The Problem
An example in Medical Intelligence
Doctors and patients require the correct information to make informed decisions on diagnosing and treating patients. This was the case on a newly emerging myopathy, HSPB8. There are similar myopathies each triggered by different genes or conditions with differences in symptoms.
- A distressed parent approached us to learn more.
- The following sites produced little to nothing: Mayo Clinic, Medline Plus, WebMD, Healthline, NIH, CDC, Cleveland Clinic, WHO, Medscape, John Hopkins Medicine, NYS Department of Health.
The Impact
Many millions search the Internet for credible information. But most of the information visible in the top pages of the web are search engine optimized (SEO) or sponsored.
- The following sites provided research publications, but one had to spend time in reading, gathering relevant data, understanding it, and developing potential insights - The Muscular Dystrophy Association (MDA) mentions it briefly and directs you to register with Curehspb8.org, PubMed Central, Neurology Genetics, Neuromuscular Disorders (NMD), ScienceDirect, ResearchGate.
The Solution
Researchworks.ai™ is an off-the-shelf, cloud-based AI platform that structures unstructured data and automates intelligent reading and searching of information in real-time across large datasets. The flagship product of Nowigence Inc., Researchworks.ai utilizes advanced extractive and generative AI techniques, including machine learning and natural language processing. It is adaptive and flexible and requires no specialized training for users.
- Actionable Intelligence - HSPB8 Myopathy Briefing as delivered by Researchwork.ai.
- Definition and Overview: HSPB8 Myopathy, also known as distal hereditary motor neuropathy type IIa (dHMN IIa), is a rare genetic disorder caused by mutations in the HSPB8 gene. This condition primarily affects the muscles and nerves, leading to progressive muscle weakness and wasting. It was first categorized in the early 2000s when the genetic mutation was identified.
- Key Characteristics: • Progressive weakness in the distal muscles (hands and feet). • Muscle atrophy and nerve degeneration. • Potential onset of symptoms in late adolescence or early adulthood.
- Symptoms (in order of most common to rare): • Weakness in the hands and feet. • Difficulty with fine motor tasks like buttoning shirts or gripping objects. • Muscle cramps and spasms. • Loss of reflexes in the affected areas. • Mild sensory loss in some cases.
- Complications (if left untreated): • Significant disability in performing daily tasks. • Progressive muscle atrophy leading to limited mobility. • Joint deformities due to muscle imbalances. • Severe cases may result in dependency on mobility aids.
- Treatments: • Is it curable? No, HSPB8 Myopathy is not currently curable. Treatment focuses on symptom management and improving quality of life. • Common and Emerging Treatment Options: o Physical therapy to maintain muscle strength and flexibility. o Occupational therapy to aid in daily living tasks. o Use of orthotics or mobility aids. o Potential future treatments: gene therapy and advanced regenerative medicine.
- WHAT are its causes? 1) Causes: Mutations in the HSPB8 gene lead to impaired functioning of heat shock protein beta-8, crucial for cellular repair and maintenance of nerves and muscles. 2) Risk Factors: o Family history of the condition (genetic inheritance). o Genetic mutations passed in an autosomal dominant manner. 3) Impact of Early Detection: o Enables early intervention to manage symptoms and slow progression. o Prevents secondary complications like joint deformities.
- HOW is the disease diagnosed, treated, and prevented? 1) Diagnosis: o Genetic testing to identify HSPB8 mutations. o Electromyography (EMG) to evaluate muscle and nerve activity. o Muscle biopsies for cellular-level examination. 2) Management: o Regular physical therapy to preserve muscle function. o Pain management strategies for cramps or spasms. o Adaptive devices to aid mobility and daily tasks. 3) Prevention: o Genetic counseling for families with a history of the condition. o Prenatal testing for at-risk pregnancies.
- WHEN does the disease present itself? 1) Timeline: Symptoms typically appear in late adolescence or early adulthood, gradually worsening over time. 2) Historical Data: HSPB8 mutations were first linked to myopathy in the early 2000s, with advancements in genetic testing improving diagnosis. 3) Timely Action: Seek medical advice as soon as symptoms like muscle weakness or cramping are noticed, particularly if there’s a family history of similar conditions.
- WHERE to Find Resources: 1) Specialists: Neurologists and genetic counsellors. 2) Resources: Online rare disease organizations, such as the Genetic and Rare Diseases Information Center (GARD) and patient advocacy groups. 3) Treatment Centers: Specialized neuromuscular clinics and academic medical centers. 4) Support Groups: Communities such as Muscular Dystrophy Association (MDA) or online forums for inherited neuropathies.
- Related Questions: 1) What is the life expectancy for someone with HSPB8 Myopathy? o While the condition is progressive, life expectancy is not typically affected, but quality of life may be impacted. 2) What is the latest research in this field? o Gene therapy and heat shock protein-targeted treatments are being studied. 3) What are the long-term effects of this disease? o Progressive muscle weakness and atrophy; potential need for assistive devices over time. 4) What are the chances of recurrence in families? o High in autosomal dominant inheritance patterns, but genetic counselling can provide clarity.
Sample of urls where information was extracted by researchwork.ai:
https://www.frontiersin.org/journals/molecularneuroscience/
articles/10.3389/fnmol.2017.00176/full
https://curehspb8.org/
https://curehspb8.org/families
https://curehspb8.org/research/#Histology
https://www.sciencedirect.com/science/article/pii/S0024320522010232
https://www.tandfonline.com/doi/full/10.1080/15548627.2023.2179780#abstract
https://www.nature.com/articles/s10038-024-01305-x
https://www.neurology.org/doi/10.1212/NXG.0000000000000349
https://academic.oup.com/hmg/article/14/12/1659/640377
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.804858/full
https://www.nature.com/articles/s41419-022-05365-9
https://www.mdpi.com/2073-4409/10/2/335
https://medlineplus.gov/download/genetics/gene/hspb8.pdf
https://www.jcancer.org/v15p0645.htm
https://www.nature.com/articles/srep22827
https://pubs.acs.org/doi/10.1021/jacs.3c02022
https://iovs.arvojournals.org/article.aspx?articleid=2783436
https://medlineplus.gov/genetics/gene/hspb8/
https://www.mda.org/disease/myofibrillar-myopathies/types/hspb8-myopathy
https://www.neurology.org/doi/10.1212/NXG.0000000000000349
https://www.neurology.org/doi/10.1212/WNL.0000000000002324
https://www.nmd-journal.com/article/S0960-8966(20)30031-6/abstract
https://www.nmd-journal.com/article/S0960-8966(24)00588-1/fulltext
https://www.nmd-journal.com/article/S0960-8966(12)00122-8/abstract
https://pmc.ncbi.nlm.nih.gov/articles/PMC4776089/
https://www.researchgate.net/publication/334397477_New_family_with_HSPB8-
associated_autosomal_dominant_rimmed_vacuolar_myopathy
https://www.researchgate.net/publication/318928952_A_knock-inknockout_
mouse_model_of_HSPB8-
associated_distal_hereditary_motor_neuropathy_and_myopathy_reveals_toxic_gain-offunction_
of_mutant_Hspb8
https://pmc.ncbi.nlm.nih.gov/articles/PMC7915307/
https://pmc.ncbi.nlm.nih.gov/articles/PMC10351472/
https://pmc.ncbi.nlm.nih.gov/articles/PMC10273338/
https://www.sciencedirect.com/science/article/abs/pii/S0171933518300153
https://www.sciencedirect.com/science/article/pii/S0024320522010232
https://www.sciencedirect.com/science/article/abs/pii/S0960896620300316
https://www.sciencedirect.com/science/article/pii/S0960896624005881
https://www.tandfonline.com/doi/full/10.1080/15548627.2023.2179780#d1e749
