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Jacobsen syndrome

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Summary

Jacobsen Syndrome, also known as 11q deletion, is a congenital disorder that occurs due to a partial deletion of the terminal band on chromosome 11.

Physical Characteristics

  • Closely-set eyes caused by trigonocephaly
  • Folding of the skin near the eye (epicanthus)
  • Short, upturned nose (anteverted nostrils)
  • Thin lips that curve inward
  • Displaced receding chin (retrognathia)
  • Low-set, misshapen ears
  • Permanent upward curvature of the pinkie and ring fingers (bilateral camptodactyly)
  • Hammer Toes

In addition, patients tend to be shorter than average and have poor psychomotor skills.

Outlook

Patients with this disorder tend to live out normal lives within the limitations of their disability (varies from person to person), though congenital heart disease that does not manifest itself until adulthood is common. There is a greater incidence of various forms of cancer among 11q- people. The vast majority of them have a bleeding disorder called Paris-Trousseau Syndrome, where they have reduced platelets and the platelets don't function as well. The number of platelets increases during childhood until it is at normal levels, but they still have poor clotting due to abnormal platelet function. Unless their platelet function has been tested and shown to be normal, they should be assumed to have a bleeding disorder.

Sources

National Center for Biotechnology Information

11q.org - Note: PDF file

Orthoseek - Specializes in pediatric orthopedics and pediatric sports medicine

Read more at Wikipedia.org


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How effective are complementary/ alternative medicine therapies for fibromyalgia? - CAM
From Journal of Family Practice, 5/1/01 by Mark Ebell

EVIDENCE-BASED ANSWER

Acupuncture, biofeedback, and S-adenosyl methionine (SAMe) have been shown to have some efficacy in the treatment of fibromyalgia in randomized controlled trials. Spa treatments, hypnotherapy, massage, and meditation may be effective, but they have been evaluated on the basis of less well-designed studies. Bright light treatment, lasers, selenium, chiropractice, musical tones, and malic acid/magnesium are not effective.

EVIDENCE SUMMARY

For this question I excluded conventional medical therapy for fibromyalgia (prescription antidepressants, muscle relaxants, cognitive-behavioral therapy, and exercise). In general, the literature on CAM therapy for fibromyalgia is characterized by small poor-quality studies that use many different outcome measures. A recent systematic review of fibromyalgia therapy found that nonpharmacologic interventions were at least as effective as pharmacologic interventions.[1] The Table shows a summary, based on this article and my review of the literature, of the strength of evidence and benefit of the more common CAM therapies.

A nonsystematic review article identified 7 studies of acupuncture for fibromyalgia.[2] All but one of these studies were small and poorly designed. The exception was a study of 70 fibromyalgia patients who were randomly assigned to electroacupuncture using the tai chi meridians or sham electroacupuncture.[3] The patients and evaluating physicians were blinded to the treatment assignment, although the acupuncturist was not. Patients in the treatment group improved significantly more than the control group in 5 of 8 outcome measures.

Biofeedback was found to be effective in a randomized controlled trial of 24 patients with questionable blinding.[4] Another study randomized 119 patients to biofeedback/relaxation training, exercise, a combination of the 2, or an education-only control group. All 3 of the active treatment groups had better outcomes than the control group, but this was primarily because of worsening outcomes in the control group.[5]

SAMe has been evaluated in several double-blind randomized controlled trials.[6-8] Although fairly well designed, all were small and had mixed results. Only one used the oral form of the drug. While the drug appears to be relatively safe, it is expensive, and interactions with antidepressants and other drugs have been reported.

Although not studied in well-designed clinical trials, fibromyalgia patients may wish to try spa treatments,[9] massage,[10] hypnotherapy,[11] and meditation? These are generally safe and relatively inexpensive interventions, and the limited studies to date suggest a benefit. It is important that conventional therapies for fibromyalgia be given an opportunity to help the patient. Where evidence is lacking, the cost and potential harm of an alternative therapy must be balanced against uncertain efficacy.(*)

RECOMMENDATIONS FROM OTHERS

Conn's Current Therapy, 52nd edition states: "Nonpharmacologic modalities, including meditation, relaxation techniques, and biofeedback, may be useful in lessening tension." Koopman's Arthritis and Allied Conditions recommends SAMe, biofeedback, and hypnotherapy as possibly helpful but requiring further study.

Mark Ebell, MD, MS Michigan State University

CLINICAL COMMENTARY

Fibromyalgia is a difficult problem for many people, and as clinicians we often feel frustrated in our capacity to help. Dr Ebell's article points to the potential efficacy of some alternative medicine approaches, especially electroacupuncture. Limited evidence exists for other techniques, but there is none for magnesium and other compounds often touted for the treatment of fibromyalgia. Different approaches work for different people. In my practice, I emphasize the importance of stress management, which can give the patient a sense of control over the pain. It also helps for the patient to have a sense of the early signs and triggers of exacerbation. Clearly, there is a need for more research in this area.

Ellen Beck, MD University of California, San Diego

(*) For a full bibliography, see the expanded version of this article on the JFP Web site at www.jfponline.com.

REFERENCES

[1.] Rossy LA, Buckelew SP, Dorr N, et al. A meta-analysis of fibromyalgia treatment interventions. Ann Behav Med 1999; 21:180-91.

[2.] Berman BM, Swyers JP, Ezzo J. The evidence for acupuncture as a treatment for rheumatic conditions. Rheum Dis Clin NA 2000; 26:103-15.

[3.] Deluze C, Bosia L, Zirbs A, Chantraine A, Vischer TL. Electroacupuncmre in fibromyalgia: results of a controlled trial. BMJ 1992; 305:124%52.

[4.] Ferraccioli G, Bhirelli L, Scita F, et al. EMG-biofeedback training in fibromyalgia syndrome. J Rheumatol 1987; 14:820-25.

[5.] Buckelew SP, Conway R, Parker J, et al. Biofeedback/relaxation training and exercise interventions for fibromyalgia: a prospective trial. Arth Care and Research 1998; 11:196-209.

[6.] Volkmann H, Norregaard J, Jacobsen S, et al. Double-blind, placebo-controlled crossover study of intravenous S-adenosyl-Lmethionine in patients with fibromyalgia. Stand J Rheum 1997; 26:206-11.

[7.] Jacobsen S, Danneskiold-Samsoe B, Andersen RB. Oral S-adenosylmethionine in primary fibromyalgia: double-blind clinical evaluation. Scand J Rheum 1991; 20:294-302.

[8.] Tavoni A, Vitali C, Bombardieri S, Pasero G. Evaluation of Sadenosylmethionine in primary fibromyalgia: a double-blind crossover study. Am J Med 1987; 32:107-10.

[9.] Yurkuran M, Celiktas M A randomized, controlled trial of balneotherapy in the treatment of patients with primary fibromyalgia syndrome. Physikalische Medizin Rehabilitationsmedizin Kurortmedizin 1996; 6:109-12.

[10.] Sunshine W, Field TM, Quintino O, et al. Fibromyalgia benefits from massage therapy and transcutaneous electrical stimulation. J Clin Rheum 1996; 2:18-22.

[11.] Haanen HC, Hoenderdos HT, van Romunde LK, et al. Controlled trial of hypnotherapy in the treatment of refractory fibromyalgia. J Rheum 1991; 18:72-75.

[12.] Kaplan KH; Goldenberg DL; Galvin.-Nadeau M The impact of a meditation-based stress reduction program on fibromyalgia. Gen Hosp Psych 1993; 15:284-89.

COPYRIGHT 2001 Appleton & Lange
COPYRIGHT 2001 Gale Group

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