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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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Panic disorder in otolaryngologic practice: A brief review - Special Contribution
From Ear, Nose & Throat Journal, 12/1/01 by Stuart Shipko

Abstract

Panic disorder is typically characterized by a sudden, inexplicable feeling of terror and a fear that one is losing control, "going crazy, "or on the verge of death. Because these anxiety attacks can appear spontaneously and unpredictably, they often create a companion state in which the patient continually worries about when the next attack will occur. Left untreated, panic disorder can be seriously debilitating and can progress to the development of phobias and impose severe limitations on quality of life. Otolaryngologists are likely to see patients with panic disorder, particularly those who have complaints of dizziness, tinnitus, or extraesophageal manifestations of gastroesophageal reflux. This article briefly reviews the diagnosis and treatment of panic disorder.

Incidence

Panic disorder occurs in approximately one of 75 persons worldwide. (1) It can be either inherited (incomplete autosomal dominance) or acquired. Researchers estimate that one in four emergency room visits for chest pain might be attributable to panic disorder (2) and that 57.5% of these patients have visited an emergency department during the previous year. (3) Overall, panic disorder accounts for 15% of all medical visits, and patients with panic disorder require an average of 10 different physician evaluations before they are correctly diagnosed. (4) Patients with multiple unexplained symptoms are 10 times more likely to have panic disorder than any other syndrome. (5) In an attempt to obtain a proper diagnosis, patients with panic disorder are estimated to be seven times more likely to be high users of health care, defined as more than six outpatient visits over a 6-month period. (5)

General comorbidities

The fear that motivates such a high number of visits is partially justified because panic disorder is associated with increased cardiovascular morbidity. (6) Patients with untreated panic disorder also have more than twice the lifetime risk of stroke. (6)

Work disability is common in panic disorder, and these patients have a significant reduction in the quality of their lives. (7)

Otolaryngologic manifestations

Otolaryngologists should consider the possibility of panic disorder in patients who seek treatment for dizziness, tinnitus, or extraesophageal manifestations of gastroesophageal reflux and who appear to be unusually anxious on casual inspection.

Approximately two-thirds of patients with untreated panic disorder have nonspecific vestibular abnormalities. The degree of their abnormality corresponds to their degree of agoraphobia. (8) Patients with untreated panic disorder who seek otolaryngologic care often complain of dizziness. Dizziness can occur during a panic attack and during the interval between attacks. Vestibular rehabilitation is probably the best treatment for panic-related dizziness. In these patients, unexplained dizziness and unexplained syncope are usually caused by the primary panic disorder. (9)

Other common manifestations of untreated panic disorder are tinnitus as well as sinusitis, laryngitis, cough, and hoarseness secondary to gastroesophageal reflux disease.

Diagnosis

The signs and symptoms of panic disorder include a wide variety of heterogeneous conditions, and there is no clearly defined clinical syndrome. According to the fourth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders, panic disorder is characterized by the abrupt onset of fear or discomfort that peaks in approximately 10 minutes and is accompanied by at least four of the following symptoms:

* palpitations, pounding heart, or rapid heart rate

* sweating

* tremor

* sensations of smothering or shortness of breath

* feeling of choking

* chest pain or discomfort

* nausea or abdominal distress

* dizziness, lightheadedness, or faint

* feelings of unreality

* fear of losing control or "going crazy"

* fear of dying

* paresthesia

* hot flashes

The diagnosis requires that panic attacks either recur unexpectedly every 2 weeks or that a single attack be followed by at least 1 month of (1) persistent concern about future attacks, (2) worry that the attacks will cause physical illness or insanity, or (3) significant changes in behavior related to the attacks.

Treatment

The current consensus is that a selective serotonin reuptake inhibitor (SSRI) is the long-term treatment of choice for panic disorder. Unfortunately, the drugs in this class of medication (particularly sertraline) often cause or worsen tinnitus, even after they have been discontinued. SSRI-induced tinnitus, which tends to be persistent despite discontinuation, is treated the same as tinnitus from other causes.

Some patients who discontinue an SSRI (particularly paroxetine) experience a withdrawal syndrome that is characterized by a type of vertigo that occurs in association with visual tracking and is described as visual lag. This form of vertigo is alleviated by closing the eyes. In this phenomenon, the brain appears to be lagging behind the eyes as they track a moving object or scan across a vista.

Follow-up

Because panic disorder tends to be chronic and recurrent, referral for psychiatric evaluation is indicated for untreated patients. However, the initiation of short-term treatment is important because the patient's level of discomfort can be high and the patient could be at risk for suicide. For short-term treatment, one of two high-potency benzodiazepines--clonazepam or alprazolam--is recommended. The SSRIs are not indicated for short-term treatment because they have a delayed onset of action and they frequently aggravate panic attacks when first started.

A reasonable starting dosage for alprazolam is 0.5 mg three times daily; for clonazepam, a dosage of 0.5 mg twice daily is sufficient. Major side effects include sedation, memory loss, impairment of coordination, and atypical personality changes. The duration of short-term treatment should not exceed 2 weeks in order to avoid dependency, which is common in the benzodiazepine class.

Dr. Shipko is in private psychiatric practice in Pasadena, Calif.

References

(1.) Weissman MM, Bland RC, Canino GJ, et al. The cross-national epidemiology of panic disorder. Arch Gen Psychiatry 1997;54:305-9.

(2.) Fleet RP, Dupuis G, Marchand A, et al. Panic disorder in emergency department chest pain patients: Prevalence, comorbidity, suicidal ideation, and physician recognition. Am J Med 1996;101:371-80.

(3.) Yingling KW, Wulsin LR, Arnold LM, Rouan GW. Estimated prevalences of panic disorder and depression among consecutive patients seen in an emergency department with acute chest pain. J Gen Intern Med 1993;8:231-5.

(4.) Sheehan DV, Ballenger J, Jacobsen G. Treatment of endogenous anxiety with phobic, hysterical, and hypochondriacal symptoms. Arch Gen Psychiatry 1980;37:51-9.

(5.) Simon GE, VonKorff M. Somatization and psychiatric disorder in the NIMH Epidemiologic Catchment Area study. Am J Psychiatry 1991;148:1494-500.

(6.) Weissman MM, Markowitz JS, Quelette R, et al. Panic disorder and cardiovascular/cerebrovascular problems: Results from a community survey. Am J Psychiatry 1990;147:1504-8.

(7.) Rubin HC, Rapaport MH, Levine B, et al. Quality of well-being in panic disorder: The assessment of psychiatric and general disability. J Affect Disord 2000;57:217-21.

(8.) Yardley L, Britton J, Lear S, et al. Relationship between balance system function and agoraphobic avoidance. Behav Res Ther 1995;33:435-9.

(9.) Rosenbaum JF, Pollack MH. Panic Disorder and Its Treatment. New York: Marcel Dekker, 1998:12.

COPYRIGHT 2001 Medquest Communications, Inc.
COPYRIGHT 2002 Gale Group

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