How does the mode of inheritance of a genetic condition influence families? A study of guilt,blame, stigma,and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases

PURPOSE: While the mode of inheritance of a genetic condition has long been considered to have not only medical, but also psychosocial consequences for families, this supposition has never been tested. METHODS: We surveyed 112 members of 51 families (59% response) with chronic granulomatous disease to determine the influence of mode of inheritance on parents', siblings', and patients' (1) knowledge of inheritance and reproductive risk; (2) concern about risk to future family-members; (3) feelings of guilt and blame; and (4) feelings of stigmatization. Ninety-six members of 51 families (49% response) with Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were also studied. RESULTS: X-linked families had better understanding of inheritance (P < 0.001) and reproductive risks (P < 0.01). X-linked mothers worried more about risks to future generations; other autosomal-recessive family members were as worried. X-linked mothers were more likely to feel guilty (P < 0.01) and blame themselves (P < 0.001). X-linked fathers blamed their child's mother (P < 0.05) and X-linked mothers felt more blamed by the father (P < 0.01). X-linked family-members were more likely to consider being a carrier stigmatizing (P < 0.05). CONCLUSION: When providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families.     

Clinical and educational telepsychiatry applications: a review.

OBJECTIVE: Telepsychiatry in the form of videoconferencing brings enormous opportunities for clinical care, education, research, and administration. Focusing on videoconferencing, we reviewed the telepsychiatry literature and compared telepsychiatry with services delivered in person or through other technologies. METHODS: We conducted a comprehensive review of telepsychiatry literature from January 1, 1965, to July 31, 2003, using the terms telepsychiatry, telemedicine, videoconferencing, effectiveness, efficacy, access, outcomes, satisfaction, quality of care, education, empowerment, and costs. We selected studies for review if they discussed videoconferencing for clinical and educational applications. RESULTS: Telepsychiatry is successfully used for various clinical services and educational initiatives. Telepsychiatry is feasible, increases access to care, enables specialty consultation, yields positive outcomes, allows reliable evaluation, has few negative aspects in terms of communication, generally satisfies patients and providers, facilitates education, and empowers parties using it. Data are limited with regard to clinical outcomes and cost-effectiveness. CONCLUSIONS: Telepsychiatry is effective. More short- and long-term quantitative and qualitative research is warranted on clinical outcomes, predictors of satisfaction, costs, and educational outcomes.     

Teriparatide in the management of osteoporosis

Fracture of the hip is frequently a catastrophic event in the elderly, often resulting in death within a year and of the survivors, few regain pre-fracture quality of life. Although less appreciated, fractures of the spine result in significant morbidity and are also associated with increased mortality compared with individuals without a fracture. In recent years there has been an explosion in the development of new drugs for the treatment of osteoporosis. Recombinant human parathyroid hormone (1–34) (20 μg/day) is a recent addition to this armamentarium with a novel mechanism of action, which was approved by the US FDA for the treatment of post-menopausal osteoporosis and male osteoporosis secondary to hypogonadism in November 2002. It is the first osteoporosis treatment that leads to the formation of new bone with architecture similar to normal bone. Intense efforts have been made to understand the effect of teriparatide on antiresorptive therapy and vice versa. Although these relationships are not completely understood, the results of recent studies allow clinicians to begin to optimize therapeutic gains in bone mineral density and improve anti-fracture efficacy.     

Metabolic Characterization of Nondiabetic Severely Obese Patients Undergoing Roux-en-Y Gastric Bypass: Preoperative Classification Predicts the Effects of Gastric Bypass on Insulin–Glucose Homeostasis

Introduction Obese individuals may have normal insulin–glucose homeostasis, insulin resistance, or diabetes mellitus. Whereas gastric bypass cures insulin resistance and diabetes mellitus, its effects on normal physiology have not been described. We studied insulin resistance and β-cell function for patients undergoing gastric bypass. Methods One hundred thirty-eight patients undergoing gastric bypass had fasting insulin and glucose levels drawn on days 0, 12, 40, 180, and 365. Thirty-one (22%) patients with diabetes mellitus were excluded from this analysis. Homeostatic model of assessment was used to estimate insulin resistance, insulin sensitivity, and β-cell function. Based on this model, patients were categorized as high insulin resistance if their insulin resistance was >2.3. Results Body mass index did not correlate with insulin resistance. Forty-seven (34%) patients were categorized as high insulin resistance. Correction of insulin resistance for this group occurred by 12 days postoperatively. Sixty (43%) patients were categorized as low insulin resistance. They demonstrated an increase of β-cell function by 12 days postoperatively, which returned to baseline by 6 months. At 1 year postoperatively, the low insulin resistance group had significantly higher β-cell function per degree of insulin sensitivity. Conclusions Adipose mass alone cannot explain insulin resistance. Severely obese individuals can be categorized by degree of insulin resistance, and the effect of gastric bypass depends upon this preoperative physiology.     

The timing of surgical intervention in craniofacial anomalies

When treating an infant or younger child with severe craniofacial synostosis, the burden is placed on the surgeon in making a decision regarding not only the design of the osteomy but also the timing of the surgical intervention. This article reviews the current treatment protocols for craniofacial anomalies.     

Needs assessment for persons with severe mental illness: What services are needed for successful community living?

The development and implementation of effective community support systems are goals of many public mental health authorities who are attempting to shift the focus and dollars for mental health services from inpatient to community care. This article presents the results of a survey which asked 90 community mental health agency case managers to assess the community support and residential needs of over 1400 of their clients. Medication monitoring and therapy were rated high priority needs. Psychosocial treatment, day and vocational activities also ranked high. Survey responses regarding residential services indicated a need for more supported and supervised options.The study reported was a collaborative effort by county and agency staff.