Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

The association between MSHR coding region variation and hair colour in humans has been examined by genotyping 25 red haired and 62 non-red Caucasians, all of whom were 12 years of age and members of a twin pair study. Twelve amino acid substitutions were seen at 11 different sites, nine of these being newly described MSHR variants. The previously reported Val92Met allele shows no association with hair colour, but the three alleles Arg151Cys, Arg160Trp and Asp294His were associated with red hair and one Val60Leu variant was most frequent in fair/blonde and light brown hair colours. Variant MSHR genotypes are associated with lighter skin types and red hair (P < 0.001). However, comparison of the MSHR genotypes in dizygotic twin pairs discordant for red hair colour indicates that the MSHR gene cannot be solely responsible for the red hair phenotype, since five of 13 pairs tested had both haplotypes identical by state (with three of the five having both identical by descent). Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production.      

Deep brain stimulation to reward circuitry alleviates anhedonia in refractory major depression.

Deep brain stimulation (DBS) to different sites allows interfering with dysfunctional network function implicated in major depression. Because a prominent clinical feature of depression is anhedonia--the inability to experience pleasure from previously pleasurable activities--and because there is clear evidence of dysfunctions of the reward system in depression, DBS to the nucleus accumbens might offer a new possibility to target depressive symptomatology in otherwise treatment-resistant depression. Three patients suffering from extremely resistant forms of depression, who did not respond to pharmacotherapy, psychotherapy, and electroconvulsive therapy, were implanted with bilateral DBS electrodes in the nucleus accumbens. Stimulation parameters were modified in a double-blind manner, and clinical ratings were assessed at each modification. Additionally, brain metabolism was assessed 1 week before and 1 week after stimulation onset. Clinical ratings improved in all three patients when the stimulator was on, and worsened in all three patients when the stimulator was turned off. Effects were observable immediately, and no side effects occurred in any of the patients. Using FDG-PET, significant changes in brain metabolism as a function of the stimulation in fronto-striatal networks were observed. No unwanted effects of DBS other than those directly related to the surgical procedure (eg pain at sites of implantation) were observed. Dysfunctions of the reward system--in which the nucleus accumbens is a key structure--are implicated in the neurobiology of major depression and might be responsible for impaired reward processing, as evidenced by the symptom of anhedonia. These preliminary findings suggest that DBS to the nucleus accumbens might be a hypothesis-guided approach for refractory major depression.     

Energy Expenditure and Caloric Balance After Burn: Increased Feeding Leads to Fat Rather Than Lean Mass Accretion

OBJECTIVE: Resting energy expenditure (REE) is commonly measured in critical illness to determine caloric "demands" and thus nutritive needs. SUMMARY BACKGROUND DATA: The purpose of this study was to 1) determine whether REE is associated with clinical outcomes and 2) determine whether an optimal caloric delivery rate based on REE exists to offset erosion of lean mass after burn. METHODS: From 1995 to 2001, REE was measured by indirect calorimetry in 250 survivors of 10 to 99%TBSA burns. Caloric intake and REE were correlated with muscle protein catabolism, length of stay, ventilator dependence, sepsis, and mortality. From 1998 to 2000, 42 patients (>60%TBSA burns) received continuous enteral nutrition at a spectrum of caloric balance between 1.0x REE kcal/d -1.8x REE kcal/d. Serial body composition was measured by dual energy x-ray absorptiometry. Lean mass, fat mass, morbidity, and mortality were determined. RESULTS: REE/predicted basal metabolic rate correlated directly with burn size, sepsis, ventilator dependence, and muscle protein catabolism (P <.05). Declining REE correlated with mortality (P <.05). 2) Erosion of lean body mass was not attenuated by increased caloric balance, however, fat mass increased with caloric supply (P <.05). CONCLUSION: In surviving burned patients, caloric delivery beyond 1.2 x REE results in increased fat mass without changes in lean body mass. Declining energy expenditure appears to be a harbinger of mortality in severely burned patients.     

Algorithm for extrication and medical care in vehicular trauma

The rescue and treatment of trapped persons in car accidents requires a close cooperation and coordination between firefighters and medical personnel. Priorities of medical care as well as aspects of extrication should be considered equally. Procedures on scene should follow a sequence securing life support and careful rescue of the trapped patient.The developed algorithm allows for prioritized and coordinated management and represents a transparent guide for both teams, during training as well as practical application. The concept incorporates the ABC priorities for polytrauma management and also the structure of the ATLS((R))-programme. The algorithm was validated in simulated scenarios and was by affirmed by the German Trauma Surgeons Task Force on Emergency Care under the regulations of a nominal group process via resolution.     

Viagra: a success story for rationing?

The 1998 launch of Viagra prompted widespread fears about the budgetary consequences for insurers and governments, all the more so since Viagra was only the first of a new wave of so-called lifestyle drugs. The fears have turned out to be greatly exaggerated. This paper analyzes the rationing strategies adopted in four countries (United States, Britain, Germany, and Sweden), relates them to the characteristics of different types of health care systems, and identifies the conditions necessary for successful cost containment. The case of Viagra, it concludes, holds out two general lessons: first, allow exceptions to total bans on reimbursement; second, involve the medical profession in the decision-making process.     

Malignant intestinal non-Hodgkin's lymphoma from the surgical point of view

BACKGROUND: Primary intestinal non-Hodgkin's lymphoma (I-NHL) is much less frequent than gastric lymphoma and has hardly been studied in prospective trails. To the surgeon, patients frequently present with abdominal emergencies. PATIENTS AND METHODS: A consecutive series of patients subjected to surgery because of I-NHL between 1998 and 1999 was evaluated retrospectively for characteristic clinical, radiographic and intraoperative findings. Patients with gastric lymphoma were not considered. RESULTS: 10 patients, 8 males and 2 females, with I-NHL were subjected to first-line surgery because of painful abdominal tumor, intestinal hemorrhage, obstruction or perforation. I-NHL was located most often in the small bowel (n = 7). It was rare in the colon (n = 2) and the duodenum (n = 1). Median postoperative follow-up was 28 months. Perioperative mortality was 10% (n = 1). Probability of survival 3 years after surgery was 60%. CONCLUSIONS: Patients with I-NHL frequently present with complications of tumor growth, requiring urgent surgical treatment. Irrespective of surgical complications we advocate surgery in cases of resectable disease as first-line treatment. Adjuvant treatment is indicated with respect to resection status and histopathological staging.