Citations

SummarySmith–Lemli–Opitz syndrome is a rare autosomal recessive disorder characterized by multiple congenital anomalies and various degrees of cognitive deficits. This condition results from a deficiency of 7‐dehydrocholesterol reductase, a critical step in cholesterol biosynthesis. Children with Smith–Lemli–Opitz syndrome have frequent infections, particularly of the respiratory tract. Immunodeficiency, however, is not recognized as a part of this metabolic condition. Frequent infections are usually attributed to a decreased patient mobility and reduced respiratory effort secondary to muscular hypotonia and mental retardation, which are often present in affected individuals. We describe a patient with Smith–Lemli–Opitz syndrome and recurrent respiratory infections who was found to have a selective antibody deficiency. The immunological diagnosis was based on an absent immune response to Pneumovax. She also had no immunological response to hepatitis B vaccine and was unable to break down red cells with isoagglutinin B. Therapy with intravenous IgG (IVIG) was initiated. Infections were less severe, although they still occurred in a high frequency after initiation of the IVIG therapy. This finding prompts the need for a higher index of suspicion for an underlying immune deficiency in patients with Smith–Lemli–Opitz syndrome who present with recurrent and chronic infections. Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients.

Among 2, 195 reference citations, published during 1975 in ten major US medical journals, 634 (29%) were found to be erroneous on direct checking of the original source. The percentage of error within individual journals ranged from 14 to 50 per cent. Such a high error rate would seem to seriously diminish the usefulness of published reference lists and, possibly, raise questions about the accuracy of other portions of the literature also.

Both science and the public can be harmed by premature or inaccurate publicity. Physicians' concern centers on the damaging effects of inaccuracy and sensationalism and on the hazards of invasion of privacy. Balancing these concerns is a legitimate desire by the public to know about scientific progress. Medicine has fairly specific ethical guidelines for physicians' conduct in this area; an analogous code for science writers might help to control the occasional abuses of trust by these writers. At the same time physicians must become more skillful in communicating information.

Objective: Anxiety disorders appear to influence morbidity and medical utilization. However, little is known about the relationship between Generalized Anxiety Disorder, quality of life, and medical utilization, especially among low-income patients. The goals of this investigation were to 1) determine if low-income patients with GAD utilize medical services more than patients with other Axis I diagnoses, or no psychopathology, and 2) compare the health-related quality of life of these three groups. Method: Participants were randomly recruited from public primary care clinics and administered intake assessments of demographics, stress, and health-related self-report questionnaires. At the end of the first year a structured psychiatric interview was administered ( N = 431). Over the second year, patients ( n = 360) were administered a health-related quality of life measure every three months for four assessments. Medical charts were abstracted to collect information about chronic illnesses and visits to outpatient clinics and the emergency department during the two years. Results: Patients were predominantly middle-aged, low-income, uninsured African-American females. In this low-income sample, patients with GAD utilized the emergency department more and reported poorer quality of life than patients with other Axis I disorders and patients without any psychopathology. Conclusion: Low-income patients with GAD utilize the emergency department more and report poorer quality of life than patients with other Axis I disorders and patients without any psychopathology. Programs to identify and treat patients with GAD may yield improvements in quality of life, as well as reduce emergency department utilization.

Unauthorized self-administration of hypoglycemic agents produces a unique clinical situation. Because the symptoms and laboratory findings are consistent with a functioning adenoma of the pancreas, there is a significant hazard of unnecessary surgery. By appropriate laboratory tests, however, the alert physician may be able to justify suspicion that the disorder is self-induced. Accurate diagnosis may be further facilitated by recognizing certain similarities in these patients. Review of published reports and study of three cases newly presented have revealed these characteristics with enough consistency for proposal of a psychiatric syndrome. In hypoglycemia, factitial causation is suggested by the combination of female sex, single status, medical knowledge derived from experience as a diabetic or from vocational or family contacts, and features of the hysterical personality.

This paper discusses the unique aspects of Sudden Infant Death Syndrome and the family's resultant grief process. SIDS as a family crisis is explored, and by identifying the psychological factors or tasks pertinent to family adjustment, a SIDS Family Adjustment Scale is proposed which assists in recognizing adaptive and maladaptive grief responses, predicting subsequent adjustment, and facilitating therapeutic interventions.