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TAR syndrome

TAR Syndrome (Thrombocytopenia and Absent Radius) is a rare genetic disorder which is characterised by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. Platelets are the clotting agent in blood. A lowered count leads to bruising, and at worst, life-threatening haemorrhage. For most people with TAR, platelet counts improve as they grow out of childhood. more...

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Other common links between people with TAR seem to include heart problems, kidney problems, knee joint problems and frequently lactose intolerance.

Treatments range from platelet transfusions through to surgery aimed at 'normalising' the appearance of the arm, which is much shorter and 'clubbed.' There is some debate pro and anti surgery. The infant mortality rate has been curbed by new technology, including platelet transfusions, which can even be performed in utero. The critical period is the first year of life.

Genetic research is underway. It is now known to involve an autosomal recessive gene, hence when a child has the condition any future siblings have a 25% chance of also having it.

The Internet is proving to be a valuable gathering place for people with TAR, who have until now often felt isolated by the rarity of the condition, which is only 0.42 per every 100,000 live births.

Read more at Wikipedia.org


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Letters to the Editor - cervical spine radiographs; social phobia; tar compounds for care of atopic dermatitis
From American Family Physician, 6/1/00

Cervical Spine Radiographs

TO THE EDITOR: The assessment of spinal injuries requires a methodical and rapid, focused assessment with special attention to the trauma care protocols as outlined in the article, "Cervical Spine Radiographs in the Trauma Patient."(1) Cervical spine and spinal cord trauma have the potential as the most devastating injuries and, unfortunately, patients in their early 20s comprise the majority of these victims. Motor vehicle and motorcycle collisions serve as the most common mechanism of injury, followed by falls, firearms and sporting activities.(2,3)

Fundamental radiographic studies in patients with spinal injuries include a minimum of three views: the lateral view, the anteroposterior view and the open-mouth odontoid view. Oblique cervical films should be ordered as clinically appropriate. Flexion-extension views should not be a part of the cervical spine evaluation in trauma patients. If a question or discrepancy is identified on the initial films, a computed tomographic (CT) scan should be the next study ordered. Any questions in terms of the bony alignment, cartilage-space placement or soft tissue measurements should be pursued through CT scanning. Of note, the routine cervical spine films may be inadequate in patients with blunt trauma, with upwards of 25 percent of lateral views being inadequate for visualization at the C7-T1 level.(4)

To determine what approach the residency-trained, board-certified, emergency medicine colleagues at my institution routinely order for spinal trauma patients, the questions that accompanied the cervical spine article(1) were distributed for completion and comments. All 20 of the emergency medicine physicians surveyed concurred that flexion-extension views should not be considered routine and are rarely, if ever, indicated in the emergency assessment of cervical injury patients.

Although standard emergency medicine textbooks will refer to the use of these films if the lesion is considered stable, in the real world of practice, emergency medicine physicians prefer to maintain spinal immobilization in patients with spinal trauma and immediately order a CT scan. In some cases, a neurosurgical consultation will be obtained and flexion-extension manipulation testing will be performed by the subspecialist. It is important to keep in mind that patients may present with an apparent acutely stable cervical spine because of significant spasm, but may over time (even up to several weeks) develop a subacute instability of the cervical spine.(5,6) This phenomenon is related to the significant muscle tension that prevents subluxation initially, but produces instability with gradual relaxation.

REFERENCES

(1.) Graber MA, Kathol M. Cervical spine radiographs in the trauma patient. Am Fam Physician 1999; 59:331-42.

(2.) Tintinalli JE, Ruiz E, Krome RL: Emergency medicine: a comprehensive study guide. 4th ed. New York: McGraw Hill, 1996:1147.

(3.) Rosen P, ed-in-chief; Barkin R, SR ED. Emergency medicine: concepts and clinical practice. 4th ed. St. Louis: Mosby, 1998:483-503.

(4.) Ross SE, Schwab CW, David ET, Delong WG, Born CT. Clearing the cervical spine: initial radiologic evaluation. J Trauma 1987;27:1055-60.

(5.) Ruiz E, Cicero JJ, eds.: Emergency management of skeletal injuries. St. Louis: Mosby, 1995:88-9.

(6.) Herkowitz HN, Rothman RH. Subacute instability of the cervical spine. Spine 1984;9:3348-57.

EDITOR'S NOTE: This letter was sent to the authors of "Cervical Spine Radiographs in the Trauma Patient," who did not reply.

Social Anxiety Disorder

TO THE EDITOR: The article by Bruce and Saeed(1) and the accompanying editorial by Stein(2) state that social phobia, "an intense, irrational, and persistent fear of being scrutinized or negatively evaluated by others," is the third most common "psychiatric disorder" in the United States. The definition includes such ordinary symptoms as shyness and fear of public speaking-if they cause "significant distress."(1) The authors of the article advise family physicians to make the diagnosis and treatment of patients with this condition a top priority.

This advice is troubling for several reasons. First, claims about the prevalence of social anxiety are speculative. Bruce and Saeed(1) cite a one-year prevalence of 7.9 percent, but the recent Surgeon General's report(3) cites a prevalence of 2.0 percent. Far from being "the most prevalent of the anxiety disorders," as Stein asserts,[2] social phobia is less common than simple phobia (8.3 percent), agoraphobia (4.9 percent), post-traumatic stress disorder (3.6 percent), generalized anxiety disorder (3.4 percent) and obsessive-compulsive disorder (2.4 percent).

Second, calling social anxiety a "psychiatric disorder" is troubling. At what point do the intense difficulties, fears and sadness of daily life become "diseases"? Is stage fright (which can qualify as social phobia(1)) pathologic? Giving it a code from the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV)(4) offers a diagnostic label (and invites pharmaceutical companies to earn millions of dollars from a new "indication"). However, it trivializes mental illness and weakens the argument, in health policy circles, that mental illness deserves parity with physical diseases. Calling social phobia a psychiatric disorder places it in the company of major depression, bipolar disorder and schizophrenia-all diseases that cause great morbidity. When being fearful at a party becomes the "disease" of social phobia and when the unbridled energy of children is branded as attention-deficit/hyperactivity disorder, we find ourselves on a slippery slope whereby all emotional irregularities become illnesses. New diseases beget new treatments, usually drugs, and often before good data are available to show that patients benefit. Pharmaceutical companies are understandably enthusiastic, but physicians should be wary.

Third, although social phobia causes pain, severe distress in public is no more painful or worthy of scrutiny by family physicians than severe distress in other life domains (e.g., marriage, work, parenting). Distress with one's self is probably the most important source of torment. So many problems of our time, ranging from depression to substance abuse, jealousy, domestic violence and racism, stem from poor self-acceptance and self-esteem. Seasoned physicians understand that getting help for these root causes is a greater priority than preoccupation with secondary symptoms. To launch a campaign around one such manifestation (social phobia) and to infer that reducing anxiety with a behavioral exercise or a medication (paroxetine [Paxil]) constitutes "treatment" misses the physician's larger duty.

Finally, even if social phobia outranks other forms of unhappiness, should it compete with the extant priorities of family physicians (e.g., heart disease, cancer, diabetes)? Too often, advocates call for greater attention to a disease without considering the long-term consequences. Tobacco use, the leading cause of death in the United States, claims 400,000 lives each year, but busy physicians counsel only 40 percent of smokers to quit.(5) Those who do counsel patients devote an average of 90 seconds.(6) Is it sound public policy for physicians to divert themselves from such counseling or from other interventions that have been proven to reduce morbidity and mortality, to inquire whether patients get nervous in public?

REFERENCES

(1.) Bruce TJ, Saeed SA. Social anxiety disorder: a common, underrecognized mental disorder. Am Fam Phys 1999;60:2311-20,22.

(2.)] Stein MB. Coming face-to-face with social phobia. [Editorial] Am Fam Phys 1999;60:2244,47.

(3.) United States Department of Health and Human Services. Office of the Surgeon General. Center for Mental Health Services. National Institute of Mental Health. Mental health: a report of the surgeon general. Rockville, MD: United States Department of Health and Human Services; United States Public Health Service, Pittsburgh, PA, 1999.

(4.) American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 4th ed. Washington D.C.: American Psychiatric Association, 1994.

(5.) Centers for Disease Control and Prevention. Cigarette smoking-attributable mortality and years of potential life lost-United States, 1990. Morb Mortal Wkly Rep 1993;42:645-9.

(6.) Jaen CR, Crabtree BF, Zyzanski SJ, Goodwin MA, Stange KC. Making time for tobacco cessation counseling. J Fam Pract 1998;46:425-8.

IN REPLY: Dr. Woolf and Ms. Friedman question the difference between prevalence rates for social phobia cited in the Surgeon General's report(1) and those referenced in our article.(2) The Surgeon General's report(1) considered two studies, the Epidemiological Catchment Area (ECA) study of the early 1980s and the National Comorbidity Study(3) (NCS) of the 1990s. The Surgeon General's report1 footnotes, "For any mood and any anxiety disorder, the lower estimate of the two surveys was selected, which for these data was the ECA." We cited the NCS(3) data. The NCS attempted improvements over the ECA study, including the use of a national sample, younger subjects, a more comprehensive risk factor battery and an interview schedule modified to better match current diagnostic criteria (Composite International Diagnostic Interview, Version 1.0, University of Michigan [UM-CIDI])(4) than the ECA study measure Diagnostic Interview Schedule (DIS).(5) Authors of the NCS noted, "The assessment of social phobia, in particular, is more thorough in the UM-CIDI than in the DIS, and this may explain why the NCS estimate of the prevalence of social phobia is much higher than the ECA estimate."(3)

Throughout their letter, Dr. Woolf and Ms. Friedman mischaracterize social phobia, then argue against those mischaracterizations. They equate psychiatric disorders with "diseases," describe subthreshold examples of social phobia, and then question the validity of calling these diseases. The social phobia syndrome is not "being fearful at a party," or "other forms of unhappiness," or "getting nervous in public" any more than clinical depression is "feeling down" or dementia is "forgetfulness." These trivializations ignore extensive basic and clinical research that support the syndromal validity of social phobia and its descriptive psychopathology.(6) They ignore qualitative differences in features as well as the crucial distinction between a feature operating within a significantly distressing and disabling syndrome and one occurring in part and on a continuum in most people without significant impact. Ignoring these distinctions mistakenly qualifies any similar feature for the diagnosis and accounts for why most of us, on first read, seem to meet the criteria for most mental disorders. Establishing medical necessity for the treatment of social phobia is important, but rarely equivocal.

That pharmaceutical companies may profit from indications and have the greatest means for informing the public about any medical condition or treatment heightens our professional responsibility to provide evidence-based information to our colleagues, our patients and the public. We believe it not to be grounds for dismissing the evidence base that supports the validity of a syndrome or effective treatments-a data base for social phobia that predates recent pharmaceutical company interests by nearly two decades.

The claim that social anxiety disorder is one of many manifestations of "poor self-acceptance and self-esteem" is speculative and ignores extensive and empirical literature that supports developmental and therapeutic models on which effective treatments have been built.

To physicians and scientists who have worked with patients with this disorder, social phobia has demonstrated a capacity to cause significant distress and disability and lead to serious comorbidity and increased suicide risk, but it responds to specific interventions. We wrote this article to inform family physicians of these data at a time when patients with social phobia are being encouraged to seek their help. We recognize that by doing so, unfortunately and inevitably, demands are placed on health care providers, the payers of health care costs and the society of those who do not have social phobia, and also risks stigmatization of care-seekers by those inclined. To have not informed family physicians would have been to neglect our obligation to patient care.

REFERENCES

(1.) United States Department of Health and Human Services. Office of the Surgeon General. Center for Mental Health Services. National Institute of Mental Health. Mental health: a report of the surgeon general. Rockville, MD: United States Department of Health and Human Services; United States Public Health Service, Pittsburgh, PA, 1999.

(2.) Bruce TJ, Saeed SA. Social anxiety disorder: a common, underrecognized mental disorder. Am Fam Phys 1999;60:2311-20,22.

(3.) Kessler RC, McGonagle DK, Zhao S, Nelson CB, Hughes M, Eshleman S, et al. Lifetime and 12-month prevalence of DSM-III-R psychiatric disorders in the United States. Results from the National Comorbidity Survey. Arch Gen Psychiatry, 1994; 51:8-19.

(4.) World Health Organization. Composite International Diagnostic Interview (CIDI), Version 1.0. Geneva, Switzerland: World Health Organization; 1990.

(5.) Robins LN, Helzer JE, Croughan JL, Ratcliff KS. National Institute of Mental Health Diagnostic Interview Schedule: its history, characteristics and validity. Arch Gen Psychiatry 1981;38:381-9.

(6.) Heimberg RG, ed. Social phobia: diagnosis, assessment, and treatment. New York: Guilford, 1995.

IN REPLY: Dr. Woolf and Ms. Friedman call into question the statement in my editorial(1) that social anxiety disorder is "the most prevalent of the anxiety disorders." In fact, the lifetime prevalence of social phobia was 13.3 percent in a recent cross-national epidemiologic survey, eclipsing that of all other anxiety disorders.(2) The Surgeon General's report(3) they allude to unfortunately contains data from a much earlier survey that had methodologic inadequacies with respect to the diagnosis of social phobia (and several other diagnoses, such as obsessive-compulsive disorder).

But let's not quibble about numbers. Let's look at the core of Dr. Woolf and Ms. Friedman's complaint. They argue that social anxiety disorder is unimportant and does not belong "in the company of major depression, bipolar disorder and schizophrenia-all diseases that cause great morbidity." In fact, social anxiety disorder-like many other anxiety disorders-is associated with tremendous morbidity, reduced quality of life and economic costs to society.(4,5)

Even more troubling is their impression that "the physician's larger duty" is not to reduce suffering or to improve functioning, but to get at the "root causes" of mental illness. This is an argument that has imperiled the treatment of mental illness for decades. Yes, things like "low self-esteem" are part of the phenomenology of most depressive and some anxiety disorders. This is not to say that they are etiologic. At this stage of the game we, unfortunately, know little about the "root causes" of most psychiatric problems. But this has not stopped us from developing effective treatments. Numerous double-blind, randomized clinical trials have proven that antidepressants and well-defined, focal psychotherapies are extremely effective in treating many patients with depressive and anxiety disorders, including social anxiety disorder.

Finally, Dr. Woolf and Ms. Friedman argue that it is not "sound public policy" for physicians to identify or treat social anxiety disorder. They trivialize social anxiety disorder by equating it with getting "nervous in public" in the same way critics in the past trivialized major depression by equating it with "unhappiness." Although major depression was once maligned as an "indication" for pharmaceutical companies to treat the worried, the tide has turned. Now recognized as a top public health problem, major depression has become the focus of intense efforts to improve its detection and patient treatment in primary care settings.(6)

Will history repeat itself? Time (and further research) will tell us to what extent social anxiety disorder should be prioritized in the grand scheme of society's health agenda. Until that day arrives, I believe we owe it to our patients with social anxiety disorder to relieve their symptoms and lessen their morbidity whenever we have the capacity to do so.

REFERENCES

(1.) Stein MB. Coming face-to-face with social phobia. [Editorial] Am Fam Phys 1999;60:2244,47.

(2.) Magee WJ, Eaton WW, Wittchen HU, McGonagle KA, Kessler RC. Agoraphobia, simple phobia, and social phobia in the National Comorbidity Survey. Arch Gen Psychiatry 1996;53:159-68.

(3.) Nelson EC, Rice J. Stability of diagnosis of obsessive-compulsive disorder in the Epidemiologic Catchment Area Study. Am J Psychiatry 1997;154: 826-31.

(4.) Greenberg PE, Sisitsky T, Kessler RC, Finkelstein SN, Berndt ER, Davidson JR, et al. The economic burden of anxiety disorders in the 1990s. J Clin Psychiatry 1999;60:427-35.

(5.) Mendlowicz MV, Stein MB. Quality of life in anxiety disorders. Am J Psychiatry (in press).

(6.) Wells KB, Sherbourne C, Schoenbaum M, Duan N, Meredith L, Unutzer J, et al. Impact of disseminating quality improvement programs for depression in managed primary care: a randomized controlled trial. JAMA 2000;283:212-20.

Tar Compounds and Atopic Dermatitis

TO THE EDITOR: I was surprised that the authors(1) of the article on atopic dermatitis recommended consideration of treatment using an oral leukotriene inhibitor (speculative at best!) but failed to include tar compounds (tried-and-true).

I believe the latter compounds are widely underused. This is unfortunate because they are safe and effective, and they also potentiate topical steroids when used in combination therapy, thus allowing a reduction in potent steroid use. Tar compounds are photosensitizing and may stain, but these problems can be minimized when they are applied only at night. These preparations are usually very well tolerated, and some can be added to bath water.

REFERENCE

(1.) Correale CR, Walker C, Murphy L, Craig TJ. Atopic dermatitis: a review of diagnosis and treatment. Am Fam Physician 1999;60:1191-98.

IN REPLY: I agree with Mr. Zimmerman that tar compounds are appropriate intervention for patients with atopic dermatitis. Regrettably, they are very inconvenient to use so I try to avoid them in my practice; nonetheless, they are time tested and proven to be effective. Also, I agree with Mr. Zimmerman that leukotriene inhibitors are speculative at best, and a study needs to be conducted in the double-blind fashion to confirm our suspicions that leukotriene receptor antagonists are beneficial for persons with atopic dermatitis.

Send letters to Jay Siwek, M.D., Editor, American Family Physician, 11400 Tomahawk Creek Pkwy., Leawood, KS 66211-2672; fax: 913-906-6080; e-mail: afplet@ aafp.org. Please include your complete address, telephone number and fax number. Letters should be double-spaced, fewer than 500 words and limited to one table or figure and six references. Please submit a word count. Letters submitted for publication in AFP must not be submitted to any other publication. Possible conflicts of interest must be disclosed at time of submission. Submission of a letter constitutes transfer of copyright to the American Academy of Family Physicians. The editors may edit letters to meet style and space requirements.

COPYRIGHT 2000 American Academy of Family Physicians
COPYRIGHT 2000 Gale Group

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