The HGAR1 familial hypercholesterolemia pedigree

Data on 232 members of a single pedigree, descended from two pairs of original parents, were made available to the participants of Genetic Analysis Workshop 8 (GAW8). In addition to information concerning age and sex, measurements for 10 quantitative traits and genotypes at 22 polymorphic marker loci were also provided for a subset of 193 of these family members. © 1993 Wiley-Liss, Inc.     

Dry skin in dermatology: a complex physiopathology

Dry skin (xerosis) is a common dermatosis affecting people of varying skin types and ages and various areas of the body. It is associated with both skin thickening and skin thinning and is triggered by both exogenous (e.g. climate, environment, lifestyle) and endogenous (e.g. medication, hormone fluctuations, organ diseases) factors. Skin requires a water content of 10–15% to remain supple and intact. This water is either ‘static’ (i.e. bound) or ‘dynamic’. The predominance of hydrophobic substances in intercellular constituents is a means of regulating the humidity of the skin. Emollients, highly effective treatment adjuncts in the management of all dry skin disorders, help to restore damaged intercorneocyte lipid structures and increase the water content of the skin, helping to reduce scaling and improving its barrier function.     

Early neonatal inflammation affects adult pain reactivity and anxiety related traits in mice: genetic background counts

Protracted or recurrent pain and inflammation in the early neonatal period may cause long-lasting changes in central neural function. However, more research is necessary to better characterize the long-term behavioral sequelae of such exposure in the neonatal period. Objectives: (1) to study whether timing of postnatal exposure to persistent inflammation alters responsiveness to thermal pain in the adult animal; (2) to assess whether animals experiencing early postnatal chronic inflammation display altered anxiety related behavior; (3) to study the importance of genetic background. Newborn mice (outbred strain, CD1 and F1 hybrid strain, B6C3F1) received an injection of Complete Freund's Adjuvant (CFA) or saline on either postnatal day 1 or 14 (PND1; PND14) into the left hind paw. Pain to radiant heat and anxiety were examined in 12-week-old adult animals. Adult baseline PWL was significantly decreased in CD1 mice exposed to CFA on PND 1 and 14 as compared to their saline treated counterparts. B6C3F1 mice exposed to CFA on PND14 showed markedly reduced baseline PWL compared to the PND14 saline group. Persistent inflammation experienced by B6C3F1 mice on PND1 failed to affect baseline adult thermal responsiveness. Adult mice, CD1 and B6C3F1, displayed low anxiety traits only if they had been exposed to persistent inflammation on PND1 and not on PND14. Our research suggests a role for genetic background in modulating long-term behavioral consequences of neonatal persistent inflammation: the data support the hypothesis that pain experienced very early in life differentially affects adult behavioral and emotional responsiveness in outbred (CD1) and hybrid mice (B6C3F1).     

A schema-focused approach to group psychotherapy for outpatients with borderline personality disorder: A randomized controlled trial

This study tests the effectiveness of adding an eight-month, thirty-session schema-focused therapy (SFT) group to treatment-as-usual (TAU) individual psychotherapy for borderline personality disorder (BPD). Patients (N = 32) were randomly assigned to SFT-TAU and TAU alone. Dropout was 0% SFT, 25% TAU. Significant reductions in BPD symptoms and global severity of psychiatric symptoms, and improved global functioning with large treatment effect sizes were found in the SFT-TAU group. At the end of treatment, 94% of SFT-TAU compared to 16% of TAU no longer met BPD diagnosis criteria (p < .001). This study supports group SFT as an effective treatment for BPD that leads to recovery and improved overall functioning.     

A historical overview of spirituality in nursing.

The following article is an attempt to encapsulate an historical overview of spirituality in nursing. Despite a plethora of information relative to spirituality in nursing, the decision was to do an eclectic overview that was not reflective of any one spiritual/religious group. The authors at times found this goal difficult when writing about the Pre-Christian and Christian eras. Most of the major religions have their own perspective on the concept of spirituality, and historical personalities recorded maybe reflective of that particular religion. Another factor that impacted on the writing of this article was the concept that spirituality was not always linked specifically to religion. Spirituality was an experiential component of the wonders of nature and life, a domain that the authors took into account but did not expound upon. Finally the authors realized that spirituality has almost always been an aspect of African-American life and certainly of those in nursing. To this end the authors realize that there is a need for more research in this area.     

Expression of myosin heavy chain isoforms in Duchenne muscular dystrophy patients and carriers

The expression of MHC isoforms in the skeletal muscles of nine patients with Duchenne muscular dystrophy (DMD) (from 2.5 to 15 yr of age) and three DMD carriers was studied using different specific anti-MHC MAbs. We also analyzed muscle fiber size and fiber reactivity with acridine orange and/or with a surface antigen marker. One-quarter of all fibers of DMD patients, or less with age, were of normal size and contained only adult slow MHC. Half of the muscle fibers contained adult and developmental MHCs. Only half of these fibers were representative of an active regenerative process. MHC co-expression also altered the proportion of normal fast or slow fibers. Adult fast MHCs were expressed as unique MHC only in small and very small fibers in the oldest DMD patients. In DMD carrier muscles, the greatest alterations in MHC expression were observed in patients with the most reduced dystrophin expression. However, MHC changes in dystrophin-positive fibers were similar to those observed in dystrophin-free fibers. In conclusion, disruptions or delays in the switching of all genes coding for adult fast and slow MHC and developmental MHC coincided with dystrophin deletion and with perturbations in its expression.