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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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Fibromyalgia syndrome has nothing to do with muscle pain!
From Journal of the American Chiropractic Association, 9/1/01 by Schneider, Michael

Chiropractic Philosophy & Clinical Technique

Conventional wisdom notwithstanding, fibromyalgia syndrome is thought to be a disorder of the central nervous system, not of the soft tissues. For many years, the literature on muscle and soft-tissue pain did not separate myofascial pain syndrome (MPS) from fibromyalgia syndrome (FMS). Authors would typically interchange them as if they were one single clinical entity, whereas, in reality, they represent separate and distinct pain syndromes.

The hallmark of MPS is the presence of taut bands of skeletal muscle in which a painful "nodule" or "knot," known as a trigger point (TrP), can be palpated. When a TrP is stimulated with deep manual pressure, it causes referred pain in a characteristic pattern specific for each skeletal muscle in the body. Cross-fiber palpation of the taut bands often elicits a local twitch response, which is mediated by spinal cord reflexes similar to the knee-jerk reflex. Fine-needle EMG studies of TrPs have revealed characteristic spikes of increased spontaneous electrical activity emanating from the muscle tissue within a very focal area around the TrP "knot." Patients with MPS due to TrPs in one or more muscles will present clinically with a regional pain syndrome that is localized to one quarter of the body.

FMS patients, on the other hand, present clinically with widespread pain, which is bilateral, above and below the waist, in the torso, and often accompanied by other systemic problems such as headaches, irritable bowel syndrome, sleep disorders, etc. Although these patients complain of what feels like muscle or soft-tissue pain, in FMS, no skeletal muscle changes are noted upon biopsy, physical examination, or EMG. In fact, since no soft-tissue pathology has been found in FMS basic science research, the painful areas in FMS have been called tender points (Tees) to differentiate them from trigger points (TrPs). Unlike TrPs, which have characteristic tissue texture changes, the TeP does not have any palpable distinguishing features. Tees are literally "tender points."

Pharmacological studies have failed to show any benefit whatsoever for any anti-inflammatory medications, including corticosteroids, in relieving the pain of FMS. Low doses of some antidepressant medications given at bedtime, however, has shown some positive results in FMS, albeit temporary or short-lived. If there is no evidence for muscle inflammation or dysfunction in FMS, from which tissue does the widespread global pain of FMS come? And why would antidepressant drugs help relieve softtissue pain? The answer lies in the way normally non-painful stimuli are processed abnormally within the central nervous system (CNS) of FMS patients.

The most recent FMS research reveals dysfunction of the CNS-more specifically, the descending anti-nociceptive system (DANS) that typically helps filter out non-important sensory stimuli. Serotonin is a critical neurotransmitter within the DANS, and therefore a serotonin deficiency would disrupt normal function of the DANS, leading to a situation in which non-noxious sensory stimuli could be perceived as "painful" by the FMS patient. Indeed, analysis of the cerebrospinal fluid (CSF) of FMS patients reveals biochemical markers suggestive of serotonin deficiency. Since many current anti-depressant medications increase serotonin levels in the CSF, this could be a plausible mechanism of action.

It is important for chiropractors to understand that FMS is often overdiagnosed by the primary care physician (PCP), especially in this era of managed care, where quantity has replaced quality in the typical medical practice. Chronic pain patients who have multiple musculoskeletal pain generators are frequently misdiagnosed as having FMS, used as a default diagnosis. Moreover, non-mechanical pain and fatigue processes, such as anemia, rheumatoid arthritis, hypothyroidism, and Lyme disease, may be mistakenly attributed to FMS, even though problems like these could in principle be distinguished from it by appropriate laboratory analysis. However challenging for the medical PCP, it is relatively straightforward for the chiropractor to diagnose functional problems (food allergies, intestinal dysbiosis, nutritional deficiencies, disorders of carbohydrate metabolism, etc.) as causes of widespread pain and fatigue.

Nonetheless, DCs should be careful not to confuse the tender points of FMS with the trigger points of MPS, because the former will not respond to manual treatment methods; this sad truth is bound to cause consternation to the unwary clinician. Research has shown that FMS patients experience a form of "CNS allodynia," meaning they will experience "pain" responses to usually non-painful stimuli. They literally hurt all over, and therefore any treatment for the peripheral pain that does not address the CNS dysfunction is doomed to failure. On the other hand, patients with distinct TrPs and regional pain syndromes will respond extremely well to appropriate chiropractic management with soft-tissue and other techniques.

Dr. Schneider is in private practice in Pittsburgh, PA, and teaches postgraduate myfascial pain and fibromyalgia courses through Texas Chiropractic College and the National University of Health Sciences.

Dr. Schneider was an active member and officer of the Council on Technique He is the author of Principles of Manual Myofascial Therapy and may be reached at drmike@city-net.com.

Bibliography

1. Chaitow L. Fibromyalgia Syndrome. New York: Churchill Livingstone; 2000.

2. Jamison JR. A psychological profile of fibromyalgia patients: a chiropractic case study. J Manipulative Physiol Ther 1999;22(7):454-7.

3. Mense S, Simons DG. Muscle Pain. Chapter 9: Fibromyalgia Syndrome. Baltimore: Lippincott Williams & Wilkins; 2001. pp 289-337.

4. Schneider MJ. Tender points/fibromyagia vs. trigger points/myofascial pain syndrome: a need for clarity in terminology and differential diagnosis. J Manipulative Physiol Ther 1995;18(6):398406.

5. Schneider MJ. Principles of Manual Myofascial Therapy. Self-published by the author. Pittsburgh, PA. 1999.

6. Russell I, editor. Clinical Overview and Pathogenesis of the Fibromyalgia Syndrome, Myofascial Pain Syndrome, and Other Pain Syndromes. Binghamton, W.- Haworth Press; 1996.

7. Jacobsen S, Danneskiold-Samsoe B, Lund B, editor. Musculoskeletal Pain, Myofascial Pain Syndrome, and the Fibromyalgia Syndrome: Proceedings from the 2nd World Congress on myofascial pain and fibromyalgia. Binghamton, NY: Haworth Press Inc; 1993.

8. Goldstein J. Chronic Fatigue Syndromes: The Limbic Hypothesis. Binghamton, NY Haworth Medical Press, Inc; 1993.

9. Pillemer S, editor. The Neuroscience and Endocrinology of Fibromyalgia. Binghamton, NY Haworth Press, Inc.; 1998.

This column is coordinated by Robert Cooperstein, DC, Palmer West College of Chiropractic. Dr. Cooperstein accepts manuscript submissions at Cooperstein_r@palmer.edu, or by fax at 408/944-6118.

Copyright American Chiropractic Association Sep 2001
Provided by ProQuest Information and Learning Company. All rights Reserved

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