Author: SSAdmin

Fatigue related to severity

 

A research study has now quantified what has been known for a long time – that it takes a lot more energy to walk when you have HSP, and the worse are the HSP symptoms, the higher the fatigue caused by walking.

 

Background/Objectives:

Limited studies have reported on gait characteristics of children with Hereditary Spastic Paraplegia (HSP). Previous research has shown this to be a heterogeneous patient population in terms of gait function. Children with gait disorders have been shown to have a higher energy cost of walking compared to age-matched children without disabilities. To date, there are no studies looking at the relationship between gait dysfunction and energy cost in patients with HSP. The purpose of this investigation is to evaluate the association between gait deficiencies and energy efficiency in patients with HSP. It is hypothesized that a lower quality of gait will be related to a higher energy cost.

 

Study Design:

Cohort study.

 

Study Participants and Setting:

Twenty-seven participants (average age 14.0 ± 5.4yrs) with a clinical diagnosis of HSP tested in a clinical and research based motion analysis laboratory.

 

Materials/Methods:

Gait analysis at a self-selected speed. A 6-minute walk test (6MWT) was performed to determine functional ability and exercise capacity. Oxygen consumption data was collected simultaneously, along with heart rate. The gait deviation index (GDI), highly applicable to neurologic populations, is a kinematic based derivation of gait analysis that provides a quantitative method of describing the overall gait pattern relative to healthy individuals. GDI was calculated by averaging scores from 3 representative trials from gait for the left and right sides. Pearson’s correlation coefficient was used to determine the relationship between GDI score and distance traveled during the 6MWT, average walking velocity, and energy cost.

 

 

Results:

Moderate correlations were found between gait deviation scores and performance during the 6MWT. Lower GDI scores were correlated with shorter distances walked (r = 0.65), decreased walking velocity (r = 0.64), and higher energy cost (r = −0.68) during the 6MWT. This can be inferred that there is more of a demand on the body during longer periods of walking in those patients with increased gait deviations. During the 6MWT, some patients had to pause to take a break due to fatigue.

 

Conclusions/Significance:

Results from this study indicate that abnormal gait patterns (lower GDI scores) are correlated with reduced exercise capacity in patients with HSP. Future work should be focused on which specific gait deviations (i.e. increased knee flexion, ankle equinus, internal foot progression, etc.) have the greatest effect on energy cost.

 

SOURCE: Developmental Medicine & Child Neurology Volume 57, Issue Supplement S5, pages 70–71, October 2015 Article first published online: 30 SEP 2015 DOI: 10.1111/dmcn.114_12887 © 2015 The Authors. Development Medicine & Child Neurology © 2015 Mac Keith Press

 

Gait outcomes and energy efficiency in patients with hereditary spastic paraplegia

 

A Anderson1, K Tulchin-Francis1, L Smith1, M Delgado2

 

1Texas Scottish Rite Hospital for Children, Dallas, TX, USA; 2Texas Scottish Rite Hospital for Children, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA

 

 

 

What is available for HSP in Australia

 

Technology used for next-generation sequencing (NGS) of DNA has rapidly developed over the past five years so that the cost and time it takes to read an individual’s DNA is getting lower and lower. Consequently, new genome technologies like NGS are steadily being adopted for use in the diagnosis of genetic disorders such as HSP.

 

Complex questions on issues such as data sharing and informed consent are constantly being addressed due to the confidential nature of personal data produced by such technologies and the demands for using such data for research and related purposes. The challenge is how to harness the potential of these technologies for health care while respecting fundamental ethical and regulatory frameworks.

To ensure that the expectations and needs of society, and in particular those with genetic conditions, are met in the broad implementation of these technologies, relevant stakeholders (patient representatives, genomics researchers, clinical geneticist, bioinformaticians, policy makers, ethics experts etc.) need to be engaged in this dialogue and subsequently produce recommendations that achieve widespread acceptance.

 

Three HSP genetic testing services are available in Australia.

Two are located in Sydney and the third in Perth. Neurologists and geneticists no matter where they are located can use the service of choice for HSP patients. They, along with genetic counsellors, will talk with you about their preferred service and what that means for you in terms of the tests that will be conducted and costs, if any, associated with that.

 

Molecular Medicine Laboratory, Concord, Sydney

The MolMed lab at Concord Hospital in Sydney was the first in Australia to offer genetic testing for HSP. The current service offered includes 51 HSP genes MolMedHSPgenelist (.pdf file). Here is the process: 

1. Patients can visit their neurologist to discuss and request genetic testing, or the neurologist might suggest it. A lot of information is required for the Request Form MolMed EXOME FORMS (.pdf file) to guide and assist testing. A neurologist or clinical geneticist is ideal for requesting genetic testing.
2. The genetic testing process in the lab starts with the Request Form that has been completed by a combination of the patient’s medical professionals and the patient or guardian themselves.
3. The initial testing task is to screen the 51 HSP genes using next-generation exome sequencing.
4. If no mutation is found, there is a search for mutations in a wider range of selected genes.
5. All the patient data can be stored and as new HSP genes are identified, there is the capability to come back and check the new genes for the patient. Newly discovered genes are added to the gene panel systematically.
6. There are plans to start using whole genome next generation sequencing technology in future. This will be where no mutation is identified in the initial exome screen, then searching the whole genome for potential candidate genes will be carried out.
7. This is a diagnostic service where a mutation, if identified, will be confirmed. Results are provided to the referring medical professional.
8. Traditional Sanger sequencing/copy number variation testing for the three major HSP genes, that is Spastin, Atlastin and REEP1, is still available.
9. Screening for known genes e.g. for other family members when one member has a known mutation, is another service that is offered.

The cost for the testing is currently $1,800 for the 51 gene panel and $2,400 for the ‘whole exome plus’ panel.

The timeline for testing and providing results is around 6 months.

Some public hospitals will pay for the service. Patients need to find out options and requirements with their hospital to determine the situation regarding costs.

 

HSP clinic, Royal North Shore Hospital, Sydney

The HSP clinic at Royal North Shore hospital in Sydney, headed up by Dr Carolyn Sue, diagnoses and reviews the status of people with suspected or confirmed HSP. Genetic testing is then decided on a case-by-case basis and individually tailored to the clinical scenario and clinical features observed. The genetic testing service offered currently is being further developed and includes the latest next generation technologies and methodologies.

 

PathWest Neurogenetics Laboratory, QEII Medical Centre, Nedlands, Perth

The PathWest neurogenetics lab in WA has both next-generation and traditional sequencing technologies to test 70 HSP genes PathWestHSPgenelist (Excel spreadsheet). Full details of the PathWest service will be reported in the Summer edition of the website in early December 2015.

 

May help with chronic pain and spasticity

 

Moderate quality evidence supporting the use of cannabinoids to treat chronic pain and spasticity was found to exist in this review of 28 databases covering studies of the effectiveness of cannabinoids in treating different conditions.

 

A multinational team of scientists reviewed and analysed the current research literature in an attempt to determine whether or not cannabis and cannabinoid drugs are effective, and in what ways.

 

Australian State laws on the possession, supply and cultivation of Cannabis vary from state to state. Get more information…

 

IMPORTANCE:

Cannabis and cannabinoid drugs are widely used to treat disease or alleviate symptoms, but their efficacy for specific indications is not clear.

 

OBJECTIVE:

To conduct a systematic review of the benefits and adverse events (AEs) of cannabinoids.

 

DATA SOURCES:

Twenty-eight databases from inception to April 2015.

 

STUDY SELECTION:

Randomized clinical trials of cannabinoids for the following indications: nausea and vomiting due to chemotherapy, appetite stimulation in HIV/AIDS, chronic pain, spasticity due to multiple sclerosis or paraplegia, depression, anxiety disorder, sleep disorder, psychosis, glaucoma, or Tourette syndrome.

 

DATA EXTRACTION AND SYNTHESIS:

Study quality was assessed using the Cochrane risk of bias tool. All review stages were conducted independently by 2 reviewers. Where possible, data were pooled using random-effects meta-analysis.

 

MAIN OUTCOMES AND MEASURES:

Patient-relevant/disease-specific outcomes, activities of daily living, quality of life, global impression of change, and AEs.

 

RESULTS:

A total of 79 trials (6462 participants) were included; 4 were judged at low risk of bias. Most trials showed improvement in symptoms associated with cannabinoids but these associations did not reach statistical significance in all trials. Compared with placebo, cannabinoids were associated with a greater average number of patients showing a complete nausea and vomiting response (47% vs 20%; odds ratio [OR], 3.82 [95% CI, 1.55-9.42]; 3 trials), reduction in pain (37% vs 31%; OR, 1.41 [95% CI, 0.99-2.00]; 8 trials), a greater average reduction in numerical rating scale pain assessment (on a 0-10-point scale; weighted mean difference [WMD], -0.46 [95% CI, -0.80 to -0.11]; 6 trials), and average reduction in the Ashworth spasticity scale (WMD, -0.36 [95% CI, -0.69 to -0.05]; 7 trials). There was an increased risk of short-term AEs with cannabinoids, including serious AEs. Common AEs included dizziness, dry mouth, nausea, fatigue, somnolence, euphoria, vomiting, disorientation, drowsiness, confusion, loss of balance, and hallucination.

 

CONCLUSIONS AND RELEVANCE:

There was moderate-quality evidence to support the use of cannabinoids for the treatment of chronic pain and spasticity. There was low-quality evidence suggesting that cannabinoids were associated with improvements in nausea and vomiting due to chemotherapy, weight gain in HIV infection, sleep disorders, and Tourette syndrome. Cannabinoids were associated with an increased risk of short-term AEs.

 

Summary for patients in

JAMA PATIENT PAGE. Medical Marijuana. [JAMA. 2015]

 

SOURCE: JAMA. 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030 [PubMed – indexed for MEDLINE]

 

Cannabinoids for Medical Use: A Systematic Review and Meta-analysis.

 

Whiting PF1, Wolff RF2, Deshpande S2, Di Nisio M3, Duffy S2, Hernandez AV4, Keurentjes JC5, Lang S2, Misso K2, Ryder S2, Schmidlkofer S6, Westwood M2,Kleijnen J7.

 

• 1School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom2The National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care West at University Hospitals, Bristol NHS Foundation Trust.
• 2Kleijnen Systematic Reviews Ltd, Escrick, York, United Kingdom.
• 3Department of Medical, Oral, and Biotechnological Sciences, University “G. D’Annunzio” of Chieti-Pescara, Chieti, Italy5Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands.
• 4Medical School, Universidad Peruana de Ciencias Aplicadas (UPC), Lima, Peru7Health Outcomes and Clinical Epidemiology Section, Department of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.
• 5Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.
• 6Institut für Epidemiologie und kongenitale Erkrankungen, Cepicon GmbH, Hamburg, Germany.
• 7Kleijnen Systematic Reviews Ltd, Escrick, York, United Kingdom10School for Public Health and Primary Care (CAPHRI), Maastricht University, Maastricht, the Netherlands.

 

From a physio who has HSP

 

US physio Liz W has HSP and so is uniquely placed both personally and professionally to discuss exercise for people with HSP. Because symptoms vary so widely, be aware that what works for one HSPer may not be as effective for another, or indeed may increase the level of some symptoms such as spasticity.

 

Liz says “I cannot make specific recommendations for any individual because I do not know what their impairments are.  We are all at differing levels of ability in this disease process. What I am trying to do is present characteristics of a spastic disease as they relate to deficits in mobility and what specific exercises may be helpful in addressing the deficits.

 

Liz writes:

Exercise is essential for me to manage my function in the face of decline. I work out in a gym as well as at home on a daily basis, varying the activity. At home I use a spin bike, punching bag, TRX (suspension training), floor exercise, and stretching routines that include yoga and direct muscle-specific stretching. I feel “good” and accomplished after I am finished. Plus I burn calories. Plus I socialize at the gym. After I am finished on the elliptical trainer (for example) I can feel that my walking is less stiff. Instead of staying on the outside border of my left foot when standing, I can feel and make my left foot roll to the base of the big toe for push off during walking. I am lucky that I like exercise and have a spouse who encourages me to exercise daily. That is what I mean by essential.
As much as possible exercise should be weight bearing, weight shifting from one side to the other and reciprocal, i.e. when one set of muscles contracts the opposing muscles relax; for example, when the thigh (quadriceps) muscles contract during walking, the hamstring muscles at the back of the leg should be relaxed. This is called reciprocal inhibition* and is at the crux of spasticity where there is no reciprocal inhibition of the opposing muscle group, so both quadriceps and hamstring muscle groups are simultaneously contracted. Everything contracts to a varying degree making movement stiff and unable to adjust to the fine tuned demands of balance. In all my exercises I am trying to incorporate motions that can decrease spasticity, at least on a temporary basis.

 

Walking involves reciprocal rotation** around the bellybutton. People with spasticity don’t do this because the large muscles rule and it is smaller muscles that need to participate in this rotation task.

 

Stationary Bike
I will talk first about the stationary bike because it is often in my exercise routine.  I chose a low-end spin bike.  I wear bike shoes that clip to the pedal, allowing resistance on the upstroke as well as the downstroke.  I include the following variations on the bike:

1. If you are looking to just loosen your muscles, then sitting on the bike while pedalling should be sufficient.

2. standing

3. jumping (sit –> stand) and

4. climbing-in-standing by leaning forward on the handlebars.  My hips can reach their full extension range in weight-bearing, which I like very much.  My pelvis is freed up from sitting so I can practise shifting my body weight side to side on each downstroke.

To get more out of the bike workout, I stand, jump and climb-in-standing for leg strengthening, loosening and other walking characteristics that are generally absent in spastic gait.

My routine of late has been 35 minutes.  I warm up for two minutes in sitting and then 10 minutes in each of the 3 standing positions with a minute in between to drink water or exercise arms to keep the heart rate elevated.  On my better days I use the first 20 seconds of each minute to pedal as hard and as fast as I can.

By choosing a bike on which you can stand up, you are able to weight bear, alternate working sides and promote reciprocal activity of the flexor and extensor muscles***. I would also suggest that on the downstroke you should push the heel down and allow the toes to come up, in an attempt to prevent the calf muscles staying contracted or in spasm.

Thanks for reading.

LizW

 

*reciprocal inhibition

An example of reciprocal inhibition can be found in walking.  As you step forward to put your heel down, the calf muscles should relax to allow the muscles on the top of the foot to lift the toes and the front of the foot (the dorsiflexors) so they do not catch the ground. If the calf muscles are contracted, the toe can catch on the ground or the ball of the foot can scuff the ground.

If the back of the thigh muscles (hamstrings) are tight or if spasticity in them is caused by the stretch of putting the leg forward, then the muscles at the front of the thigh (quadriceps) can be prevented (inhibited) from straightening the knee for weight acceptance.  Conversely, when pushing off the back foot in the action of walking, the quadriceps muscles should be relaxed. If the quadriceps are contracted or in spasm (spastic), then bending the knee to swing the leg forward may be impaired and the leg moves forward stiffly.

 

**reciprocal rotation
Rotation at the pelvis is how we advance ourselves efficiently in walking.  If we don’t fully extend our hips (pushing the thigh of the back leg behind us and the thigh of the front leg out in front of us) then we don’t rotate the pelvis efficiently.  If we don’t rotate, we take shortened steps and there is likely to be minimal weight shifting. This is shuffle walking.

Place your hands either side just above the top of your legs and feel the bony protuberances of your pelvis. As you alternate legs in walking, feel those bony landmarks moving back and forward. Watch the movement of the pelvis in other people walking. Practice on a treadmill set on a grade or find a suitable sloping surface outside.  Take a big step uphill to activate this motion of rotating the pelvis.

Exercise is essential for me to manage my function in the face of decline.  I feel “good” and accomplished after I am done.  Plus I get to burn calories.  Plus I get to socialize.  After I am done on the elliptical (for example)  I can feel that my walking is less stiff.  Instead of staying on the outside border of my left foot in stance I can feel and make my left foot roll to the base of the big toe for push off.  I am lucky that I like exercise and have a spouse who encourages me to exercise daily.  That is what I meant by essential.

 

***flexor and extensor muscles
I use the generic term flexor/extensor to describe function. In the leg anything that shortens the leg flexes the leg. In the motion of walking, the hip, knee and ankle shorten up for clearance of the ground as the leg swings forward. This would be hip flexors (front of the hip, iliopsoas), knee flexors (hamstrings, back of the thigh) and foot dorsiflexors (anterior tibialis, top of the foot). This is a general list.

 

Extensors straighten or make the leg longer so we can stand on it: hip extensors (buttocks, gluteal muscles), knee extensors (front of thigh, quadriceps) and ankle plantarflexors (gastrocnemius, back of calf).

Available right around Australia

Summer’s coming!!! Who doesn’t love time on the beach? But it can be hard, even very hard for the gait impaired.

 

However beach wheelchairs are available all over Australian beaches, many free, some for a refundable deposit, some for a hire fee and some available for several days at a time.

 

The LoveDexter website was put together, with much effort, by families who discovered what a great resource this is, and wanted to share the information. Information may have changed, so call ahead about the gear, time and place you’re interested in.

http://lovedexter.weebly.com/blog/mapping-beach-wheelchairs

Here are other websites with relevant information:

Disabled Surfers Association

GetGoStay

Achievable Concepts

 

If you’d rather buy a beach wheelchair of your own, rather than borrow one, here are some options:

http://ilcaustralia.org.au/search_category_paths/903

Independent Living Centres Australia has manual all terrain wheelchairs in their display showrooms and information on suppliers.

 

http://ilcaustralia.org.au/search_category_paths/486

And they also have powered all terrain wheelchairs.

 

http://yabbyindustries.com.au/

The smaller Sandpiper and the larger Sandcruiser are available.

 

http://beachwheelsaustralia.com/product/the-bwa-all-terrain-chair/

In addition to the Sandpiper and Sandcruiser, they offer the BWA All-Terrain Chair.

 

Here is “The Beach Special Edition 4×4 All-Terrain Electric Wheelchair” on offer.

 

Have a great summer and tell us all about it for our next web update!!!

 

Information retrieval of human genes

 

In the last few years, mobile devices such as smartphones and tablets have become an integral part of everyday life, due to their convenience, affordability and functional utility that includes telephone calls, social media, a news source, map location finder, and online banking and shopping.

 

Now, apps are being developed in the field of bioinformatics. GeneStoryTeller, a mobile application for Android platforms, allows users to instantly retrieve information regarding any recorded human gene, derived from eight publicly available databases, as a summary story. Complementary information regarding gene-drugs interactions, functional annotation and disease associations for each selected gene is also provided in the gene story.

 

GeneStoryTeller dynamically updates its content via a network connection but does not require an internet connection to check data.

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SOURCE: Database (Oxford). 2015 Jun 8;2015:bav048. doi: 10.1093/database/bav048. Print 2015. © The Author(s) 2015. Published by Oxford University Press. PMID: 26055097 [PubMed – in process] PMCID: PMC4460399

GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes.

Eleftheriou SV1, Bourdakou MM1, Athanasiadis EI2, Spyrou GM3.

• 1Center of Systems Biology, Biomedical Research Foundation, Academy of Athens, Soranou Ephessiou 4, 115 27 Athens, Greece, and Department of Informatics and Telecommunications, University of Athens, 15784 Ilissia, Greece Center of Systems Biology, Biomedical Research Foundation, Academy of Athens, Soranou Ephessiou 4, 115 27 Athens, Greece, and Department of Informatics and Telecommunications, University of Athens, 15784 Ilissia, Greece.
• 2Center of Systems Biology, Biomedical Research Foundation, Academy of Athens, Soranou Ephessiou 4, 115 27 Athens, Greece, and Department of Informatics and Telecommunications, University of Athens, 15784 Ilissia, Greece.
• 3Center of Systems Biology, Biomedical Research Foundation, Academy of Athens, Soranou Ephessiou 4, 115 27 Athens, Greece, and Department of Informatics and Telecommunications, University of Athens, 15784 Ilissia, Greece gspyrou@bioacademy.gr.

 

Medtronic ordered to stop selling it

 

The US Food & Drug Administration (FDA) have catalogued problems with Medtronic’s SynchroMed pumps since 2006, but have now taken the drastic step to order the company to stop selling the pumps because of a failure to effectively address serious malfunctions that have been associated with death in some 14 cases.

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These pumps can be used for the administration of intrathecal baclofen and some HSPers may be fitted with them.

 

UPDATE!  The Therapeutic Goods Administration (TGA), Australia’s regulatory body for medicinal drugs and medical devices issued a press release in late May concerning the FDA’s banning of the Medtronic pump.

 

Here is an extract from the TGA’s press release:

The TGA is aware of regulatory action undertaken by the US Food and Drug Administration (FDA) in relation to the SynchroMed drug infusion system. The consent decree requires Medtronic to undertake the required actions globally and Medtronic Australasia will be implementing them in Australia from 15 June.The TGA is reviewing information supplied by Medtronic Australasia regarding this issue. The TGA will continue to monitor the safety and performance of SynchroMed drug infusion systems and will take appropriate regulatory action if a safety concern becomes apparent. In accordance with its usual procedures, the TGA will also continue to liaise closely with the FDA and other international regulators on this and similar issues.

The press release goes on to provide information for consumers and health professionals. Read the full press release from the TGA.

 

Below is extracted from 2 press releases in April in the USA:

MINNEAPOLIS _ Medtronic has entered an agreement with the Food and Drug Administration to stop selling an infusion pump except in rare cases because the company failed to fix manufacturing problems that may cause the implantable devices to deliver too much or too little medication.

 

The FDA on Monday announced the filing of a consent decree with the Ireland-based maker of medical devices, along with its chief executive Omar Ishrak and Thomas Tefft, president of the division that makes the Synchromed II implantable drug pump. The devices are made at a Minneapolis-area Medtronic’s plant.

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The consent decree doesn’t say Medtronic is admitting liability, but it does halt most sales and manufacturing of the device until the FDA decides that the company has addressed the problems, first documented in 2006.

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The agreement, which still requires court approval, allows the company to sell a device “in very limited cases,” including situations where a doctor determines the device is medically necessary for a patient’s treatment.

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Medtronic spokeswoman Cindy Resman said that for patients who need a replacement pump, the company will have to get physician certification showing the patient has been informed about the FDA consent decree. For new patients, the certification must show that the patient knows of the agreement and the doctor still believes the benefits of the therapy outweigh the risks.

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An announcement from the FDA said between 2006 and 2013, five inspections at the company’s neuromodulation plant resulted in three warning letters disclosing major violations involving the Synchromed II pumps, which were first approved for sale in 2004.

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The violations included problems with how the company identified, investigated and corrected quality problems with the device, and its failure to document design changes. The company also failed to ensure the finished products met design specifications, the FDA said.

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The failure to implement more rigorous manufacturing controls violated the rules in the federal Food, Drug and Cosmetic Act, turning the pumps into adulterated medical devices, the complaint for permanent injunction accompanying the consent decree says.

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“Defendants are well aware that their practices violate the Act,” the complaint says. “FDA has repeatedly warned defendants, both orally and in writing, about their violative conduct, and has emphasized the importance the defendants’ compliance with the act.”

 

In June 2013, Medtronic acknowledged that 14 deaths had been associated with SynchroMed pumps since 1996. They included two people whose devices had blocks in the tube that delivers pain medication, and 11 cases in which the drugs were inadvertently injected into tissue around the pump rather than into its reservoir. One death was connected to a short-circuit in the device.

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Word of the deaths came after the company told doctors about potential problems with the pump and issued special instructions for its use. The FDA later classified that communication as a Class I recall, which is the most critical type.

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A Medtronic statement said the agreement, which is still subject to court approval, does not require the retrieval of any device, and patients with the pumps do not need to change their course of therapy. “We are committed to the highest level of quality, and have pursued significant efforts in recent years to enhance the performance of the pump and to address the FDA’s expectations,” Tefft said in a statement. “We are confident that our efforts to date will contribute to the timely and thorough completion of these activities.”

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Physicians have long known about issues with the device, but they say there are few alternatives on the market. The FDA said Monday that problems with how the device is made can cause it to deliver too much or too little medication, or to delay therapy.

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Monday’s FDA announcement said that between 2006 and 2013, five inspections at the company’s neuromodulation plant in Columbia Heights turned up violations of quality-control rules, resulting in three warning letters disclosing major violations in how the pumps are designed and made. “Defendants promised corrections at the conclusion of each inspection,” the FDA complaint says.

 

Medtronic, which moved its headquarters from Fridley to Ireland in January, has sold more than 230,000 of the devices worldwide since the first version was brought to market more than 25 years ago.

 

SOURCES: 

Star Tribune (Minneapolis, MN)
April 27, 2015
Joe Carlson

 

Star Tribune (Minneapolis, MN)
April 28, 2015
Joe Carlson

Invitation to participate

 

A researcher at the University of South Australia is investigating the support needs of parents caring for a child with a rare disease.

 

You are invited to complete this survey if:
• You are a parent (mother or father) of a child aged 18 years or younger, with a rare disease, and living at home.
• Your child has either recieved a dagnosis of a rare disease, or is suspected of having a rare disease but is not yet formally diagnosed.

 

Take the survey (20-25 mins to complete). The study runs until July.

https://www.surveymonkey.com/s/3NYKPH6

Diagnostic test could help

 

Neurologists sometimes struggle to definitively tell the difference between HSP and PLS, leaving patients with the uncertainty and possibility that their condition could be either one, and it could remain unresolved for years.

Australian researchers, including Steve Vucic of Westmead and Carolyn Sue, who is part of the HSP research team that receives funding support from this Foundation, found that cortical dysfunction could help differentiate HSP from PLS. By testing cortical excitability it was found to be normal in HSP, while cortical inexcitability predominates in PLS and cortical excitability in ALS.

 

BACKGROUND AND PURPOSE:

Cortical hyperexcitability has been identified as an important pathogenic mechanism in motor neuron disease (MND). The issue as to whether cortical hyperexcitability is a common process across the MND phenotypes, including amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS), remains unresolved.

Separately, the clinical distinction between PLS and ‘mimic disorders’ such as hereditary spastic paraparesis (HSP) may be difficult, potentially delaying diagnosis. Consequently, the aim of the present study was to determine the nature and spectrum of cortical excitability changes across the MND phenotypes, and to determine whether the presence of cortical dysfunction distinguishes PLS from HSP.

 

METHODS:

Cortical excitability studies were undertaken on a cohort of 14 PLS, 82 ALS and 13 HSP patients with mutations in the spastin gene.

 

RESULTS:

Cortical hyperexcitability, as heralded by reduction of short interval intracortical inhibition (PLS 0.26%, -3.8% to 1.4%; ALS -0.15%, -3.6% to 7.0%; P < 0.01) and cortical silent period duration (CSPPLS 172.2 ± 5.4 ms; CSPALS 178.1 ± 5.1 ms; P < 0.001), along with an increase in intracortical facilitation was evident in ALS and PLS phenotypes, although appeared more frequently in ALS. Inexcitability of the motor cortex was more frequent in PLS (PLS 71%, ALS 24%, P < 0.0001). Cortical excitability was preserved in HSP.

 

CONCLUSIONS:

Cortical dysfunction appears to be an intrinsic process across the MND phenotypes, with cortical inexcitability predominating in PLS and cortical hyperexcitability predominating in ALS. Importantly, cortical excitability was preserved in HSP, thereby suggesting that the presence of cortical dysfunction could help differentiate PLS from HSP in a clinical setting.

 

SOURCE: Eur J Neurol. 2015 May;22(5):826-e58. doi: 10.1111/ene.12669. Epub 2015 Feb 12. © 2015 EAN. PMID: 25683471 [PubMed – in process]

 

Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia.

 

Geevasinga N1, Menon P, Sue CM, Kumar KR, Ng K, Yiannikas C, Kiernan MC, Vucic S.

1 Westmead Clinical School, University of Sydney, Sydney, NSW, Australia.

 

Neuromuscular blockers a consideration

 

Have you ever wondered (or has your doctor) if having HSP makes any difference to having a general anaesthetic? This Spanish study describes the cases of two sisters with HSP, at least one of them complicated, who had a general anaesthetic for their surgeries, together with their findings and recommendations.

 

The Study

Strumpell-Lorrain disease – or familial spastic paraplegia (FSP) – is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia in the more severe cases.

 

We describe two female siblings with FSP programmed for cholecystectomy and subtotal colectomy, respectively, and also how we dealt with the anesthetic management in both cases and review the literature on this disease in relation to anesthesia.

 

The use of neuromuscular blockers is complicated in patients with familial spastic paraplegia. Great care is required at extubation in patients with FSP, particularly if neuromuscular blockers were administered during the operation. If possible, long-acting neuromuscular blockers should be avoided, with routine monitoring of neuromuscular relaxation throughout the operation, using a standard peripheral nerve stimulator 12. A TOF ratio of over 0.9 must be confirmed before awakening, accelerating patient recovery with neostigmine or drugs that selectively bind aminosteroid neuromuscular blockers, such as sugammadex.

 

Conclusion

The main interest of our study is that both patients were subjected to general anesthesia, with the use of a specific reversal agent for non-depolarizing neuromuscular block, followed by complete recovery and no worsening of the existing neurological disease.

 

SOURCE: Braz J Anesthesiol. 2013 Jan-Feb;63(1):113-5. doi: 10.1016/S0034-7094(13)70203-4. Copyright © 2013 Elsevier Editora Ltda. All rights reserved. PMID: 23438806 [PubMed – indexed for MEDLINE]

 

Use of sugammadex in Strumpell-Lorrain disease: a report of two cases.

 

Franco-Hernández JA1, Rodríguez LM, Ortiz de Landázuri PJ, Hernández AG.

 

1 Department of Anesthesiology and Resuscitation, Miguel Servet University Hospital, Zaragoza, Spain. jafh73@hotmail.com