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Barth syndrome

Barth syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It affects at least one hundred (~ 100) worldwide families. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait. The syndrome is believed to be severely under-diagonsed and estimated to occur in 1 out of approximately 200,000 births. more...

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The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery.

Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28; the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.

Barth Syndrome Foundation

The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is scheduled for early July, 2006 at Disney world in Orlando Fl. For more information contact the Barth Syndrome Foundation, Inc. at

Read more at Wikipedia.org


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How should we follow athletes after a concussion?
From Journal of Family Practice, 10/1/05 by Alex Akhavan

EVIDENCE-BASED ANSWER

Athletes sustaining a concussion should be held from contact activities a minimum of 7 days; they must be asymptomatic and their coordination and neuropsychological tests should have returned to their pre-injury baseline (strength of recommendation [SOR]: B, based on multiple prospective cohort studies). High-risk athletes (eg, those with a history of previous concussion, high-school age or younger, or female) may need to avoid contact even after all these criteria are met (SOR: C, expert opinion).

CLINICAL COMMENTARY

Management of an athlete after concussion should be handled on an individualized basis

Immediate sideline testing should include symptom and cognitive screening as well as a thorough neurologic exam. Any deficits should warrant withholding the athlete from returning to the game. Given the myriad of guidelines published, the importance of following an athlete to complete symptom resolution in the subsequent postconcussive period cannot be overstated. If resources--such as baseline neuropsychologic, postural stability, and other data--are available, these tests can be used to help make the decision to return a symptom-free athlete to full-contact activity. When these additional assessments are back to baseline, they provide valuable objective markers in postconcussive recovery. In the absence of any baseline neurocognitive and other ancillary data, the athlete should be held from contact activity for at least a week after symptoms resolve. These recommendations should be modified for those having sustained multiple or higher-grade concussions.

Sourav Poddar, MD

Team Physician, University of Colorado Buffaloes; Department of Family Medicine, University of Colorado Health Sciences Center

* Evidence summary

Concussion, as defined by the American Association of Neurologists, is "a trauma-induced alteration in mental status that may or may not involve loss of consciousness." (1) There are approximately 300,000 sports-related concussions sustained each season in the US, although many athletes do not recognize the symptoms of concussion or may underreport them.

While concussions usually result in no long-term sequela, persistent neurocognitive deficits and psychiatric illnesses, including depression, may result. Case reports exist of fatal brain swelling in athletes who suffer a second head injury while still recovering from a first one, although more recently the existence of a "second impact syndrome" has been disputed. (2)

A large prospective cohort study of 2900 US college football players found that players with 1 previous concussion had a 40% increased risk of future concussion, and those with 3 previous concussions had a three-fold increase in risk. (3) High school students with concussions are 3 to 4 days slower in recovering memory function than college students, (4-6) and women with concussions are 1.7 times more likely to have cognitive impairment than men. (7)

Concussions are often accompanied by symptoms and cognitive problems that can be overlooked if not carefully and systematically assessed. A prospective study of high-school athletes demonstrated that neuropsychological dysfunction takes a week or longer to resolve in "ding" concussions (defined as no loss of consciousness and overt symptoms resolved within 15 minutes). (8) A prospective cohort study of boxers at the US Military Academy found that it takes 3 to 7 days for recovery of neurocognitive function. (9) Another cohort study of US college football players found that while postural stability commonly returns in just a day or 2, cognitive recovery often takes 3 to 5 days, and symptoms last over 7 days post-injury for 1 of 8 concussed athletes. (10)

Sport concussion assessments should include testing for cognition, postural stability, and self-reported symptoms. Results can then be compared with each individual's preseason baseline. Examples of screening instruments include SCAT (the Sideline Concussion Assessment Tool), (11) SAC (the Standardized Assessment of Concussion), BESS (the Balance Error Scoring System), as well as IMPACT or other neurocognitive tests, to evaluate and document memory, brain processing speed, reaction time, and postconcussive symptoms. (10-12) SCAT, SAC, and BESS can be used on the sidelines, and each can be employed for baseline and follow up testing.

Results from these tests should be interpreted in light of all other aspects of the injury (physical exam, age, sex, history of previous concussion, etc) to guide the decision on returning to play. (11,12) After neurological and balance symptoms have resolved, noncontact exercise may be allowed. When neuropsychological testing has returned to preseason baseline, full contact may be permitted.

Athletes, their families, trainers, and coaches should be educated about concussions so that they are better equipped to both identify and report symptoms. Care for injured athletes should also include education about the long-term effects of multiple concussions. (12)

Recommendations from others

The 2nd International Conference on Concussion in Sport, Prague 2004 (11) (emphasis added) recommended the following stages of recovery from a concussion:

1. No activity, complete rest. Once asymptomatic, proceed to level 2

2. Light aerobic exercise such as walking or stationary cycling, no resistance training

3. Sport-specific exercise (eg, skating in hockey, running in soccer), progressive addition of resistance training at steps 3 or 4

4. Noncontact training drills

5. Full contact training after medical clearance

6. Game play.

The National Athletic Training Association recommendations are: (12)

* Increase in education of staff working directly with athletes

* Increase in documentation about events surrounding and subsequent to the concussion

* Initial baseline testing for high-risk sports

* No single test should be use exclusively for return to play, as concussions can present in different ways

* Evaluations by athletic trainers or team physician after concussion Q 5 minutes

* Athletes symptomatic at rest and after exertion for 20 minutes (sprinting, push-ups) should be disqualified for that event

* Pediatric patients should have more strict/prolonged recovery periods.

* Wake athletes from sleep at home only if there has been loss of consciousness, prolonged amnesia, or significant symptoms

REFERENCES

(1.) Practice parameter: the management of concussion in sports (summary statement) Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 1997; 48:581-585.

(2.) McCrory P. Does second impact syndrome exist? Clin J Sport Med 2001; 11:144-149.

(3.) Guskiewicz KM, McCrea M, Marshall SW, et al. Cumulative effects associated with recurrent concussion in collegiate football players: the NCAA Concussion Study. JAMA 2003; 290:2549-2555.

(4.) Field M, Collins MW, Lovell MR, Maroon J. Does age play a role in recovery from sports-related concussion? A comparison of high school and collegiate athletes. J Pediatr 2003; 142:546-553.

(5.) Collins MW, Lovell MR, Iverson GL, Cantu RC, Maroon JC, Field M. Cumulative effects of concussion in high school athletes. Neurosurgery 2002; 51:1175-1181.

(6.) Powell JW, Barber-Foss KD. Traumatic brain injury in high school athletes. JAMA 1999; 282:958-963.

(7.) Broshek DK, Kaushik TS, Freeman JR, Erlanger D, Webbe F, Barth JT. Sex differences in outcome following sports-related concussion. J Neursurg 2005; 102:856-863.

(8.) Lovell MR, Collins MW, Iverson GL, Johnston KM, Bradley JP. Grade 1 or "ding" concussion in high school athletes. Am J Sports Med 2004; 32:47-54.

(9.) Bleiberg J, Cernich AN, Cameron K, et al. Duration of cognitive impairment after sports concussion. Neurosurgery 2004; 54:1073-1080.

(10.) McCrea M, Guskiewicz KM, Marshall SW, et al. Acute effects and recovery time following concussion in collegiate football players: the NCAA Concussion Study. JAMA 2003; 290:2556-2563.

(11.) McCrory P, Johnston K, Meeuwisse W, et al. Summary and agreement statement of the 2nd international conference on concussion in sport, Prague 2004. Clin J Sport Med 2005; 15:48-55.

(12.) Guskiewicz KM, Bruce SL, Cantu RC, et al. National Athletic Trainers' Association Position Statement: Management of Sport-Related Concussion. J Athl Train 2004; 39:280-229.

FAST TRACK

If you find any deficits on symptom or cognitive screening, you should not allow the athlete to return to the game

Alex Akhavan, MD, Cynthia Flores, DO, Shannan Green, MD, Jason Hackett, MD, Minh Nguyen, MD, J, William Kerns, MD

Shenandoah Valley Family Practice Residency, Virginia Commonwealth University, Front Royal

Karen Knight, MSLS

University of Virginia, Charlottesville

COPYRIGHT 2005 Dowden Health Media, Inc.
COPYRIGHT 2005 Gale Group

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