Hemizygosity for the gene encoding glycoprotein Ibß is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.

Essentials How thrombocytopenia relates to bleeding in 22q11 deletion syndrome (22q11DS) is not clear. Bleeding severity, platelet count and volume, and GPIBB were examined in patients with 22q11DS. Macrothrombocytopenia and bleeding typified imperfectly overlapping subsets of 22q11DS patients. GPIBB hemizygosity does not cause macrothrombocytopenia or bleeding in patients with 22q11DS. SUMMARY: Background and objectives Macrothrombocytopenia and bleeding are frequently associated with 22q11 deletion syndrome (22q11DS). GPIBB, which encodes the glycoprotein (GP) Ibß subunit of GPIb-IX-V, is commonly deleted in patients with 22q11DS. Absence of functional GPIb-IX-V causes Bernard-Soulier syndrome, which is a severe bleeding disorder characterized by macrothrombocytopenia. Patients with 22q11DS are often obligate hemizygotes for GPIBB, and those with only a pathogenically disrupted copy of GPIBB present with Bernard-Soulier syndrome. The objective of this study was to determine how GPIBB hemizygosity and sequence variation relate to macrothrombocytopenia and bleeding in patients with 22q11DS who do not have Bernard-Soulier syndrome. Patients/methods We thoroughly characterized bleeding severity, mean platelet volume, platelet count and GPIBB copy number and sequence in patients with 22q11DS. Results and conclusions Macrothrombocytopenia and mild bleeding were observed in incompletely overlapping subsets of patients, and GPIBB copy number and sequence variation did not correlate with either macrothrombocytopenia or bleeding in patients with 22q11DS. These findings indicate that GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in these patients. Alternative genetic causes of macrothrombocytopenia, potential causes of acquired thrombocytopenia and bleeding and ways in which platelet size, platelet count and GPIBB sequence information can be used to aid in the diagnosis and management of patients with 22q11DS are discussed.

Social support processes: mediators of attachment state of mind and adjustment in late adolescence.

This study examined the mediational link between attachment state of mind, social support processes and personal adjustment. The Adult Attachment Interview was administered to 62 adolescents during their college transition. At the end of high school and during their first semester in college, students completed questionnaires pertaining to primary and secondary appraisals; coping and personal adjustment were assessed through self- and peer-report questionnaires. A dismissing tendency was related to difficulty in getting assistance from peers and teachers and to peer-reported withdrawal. A preoccupied tendency was associated with stress regarding the transition, distrust in potential supporters, difficulty seeking help from teachers, and loneliness. Moreover, stress, distrust and help-seeking mediated the link between preoccupied attachment and loneliness, whereas the relation between dismissing attachment and withdrawal was not mediated by help-seeking. Cognitive and behavioral attachment processes are discussed.

The RNase III family: a conserved structure and expanding functions in eukaryotic dsRNA metabolism.

The last few years have witnessed the appreciation of dsRNA as a regulator of gene expression, a potential antiviral agent, and a tumor suppressor. However, in spite of these clear effects on the cell function, the mechanism that controls dsRNA maturation and stability remains unknown. Recently, the discovery of eukaryotic orthologues of the bacterial dsRNA specific ribonuclease III (RNase III) suggested a central role for these enzymes in the regulation of dsRNA and eukaryotic RNA metabolism in general. This article reviews the structure-function features of the eukaryotic RNase III family and their roles in dsRNA metabolism with an emphasis on the yeast RNase III. Yeast RNase III is involved in the maturation of the majority of snRNAs, snoRNAs, and rRNA. In addition, perturbation of the expression level of yeast RNase III alters meiosis and causes sterility. These basic functions of the yeast RNase III appear to be widely conserved which makes it a good model to understand the importance of eukaryotic dsRNA metabolism.

Attachment and control in family and mentoring contexts as determinants of adolescent adjustment to college.

This study examined whether adolescents' perceptions of attachment security and behavioral and psychological control as experienced in family and mentoring contexts are predictive of their adjustment to college. One hundred fifty-eight academically at-risk adolescents (63 men and 95 women, 16-20 years old) completed questionnaires twice during their first semester: before and after they participated in a mentoring program. Analyses yielded 4 findings: (a) Paternal control was predictive of adolescent adjustment to college; (b) above and beyond perceptions of parental attachment and control, perception of a secure relationship with a mentor was predictive of adolescent adjustment; (c) this relationship was found to be stronger for adolescents who reported having high levels of security in the relationship with their mother; and (d) psychological control by both parents appeared to be a significant determinant of academic achievement.

[Splendor and misery in the local organization of mental health: a look at the field]. / Splendeurs et misères de la concertation locale en santé mentale: un regard du terrain.

Collaboration among public and community resources (or concentration as it is referred to in French) is a practice much favoured by governments for ideological and economic reasons. But if administrative collaboration is relatively easy to set up, what about collaboration among front-line field workers? What are the ingredients likely to engender true collaboration among practitioners, and what obstacles do they meet with on a practical day-to-day level? Experience acquired in the West Island area of greater Montreal has led us to the conclusion that many issues need to be examined and understood: the difficulty of reconciling client empowerment with treatment; the difficulty of harmonizing the values and convictions prevailing in institutional and community-based networks; the tendency for practitioners to keep clienteles for themselves within a treatment environment. Despite these difficulties, it is evident that there will be a trend towards increasing collaboration where clienteles are growing and where problems are becoming more complex.

[Case management: Montreal's west end model.]. / Case management : Le modèle de l'Ouest de l'île de Montréal.

Socio-economic imperatives as well as the necessity to return a clientele in the past institutionalized for long periods of time in their own milieu have contributed to the emergence of new practices. Case management allows to intervene by involving natural and professional networks of support. Various models of case management exist but are often difficult to implement or manage. The model developed in Montreal's west end proposes a flexible, open and decentralized management, gives an important place to the client, and is characterized by the collaboration of all partners.

Parental representation in suicidal adolescents: a controlled study.

One hundred and eighty-seven adolescents referred to outpatient and residential services in three Canadian cities were assessed for lifetime suicidal ideation and attempt, and administered the Parental Bonding Instrument (PBI). Suicidal adolescents of both genders reported lower care and higher over-protection in relation to their mothers than non-suicidal subjects, and female subjects reported this pattern for their fathers as well. Male subjects did not show clear differentiation between groups on PBI ratings for their fathers. Mean PBI scores for female subjects indicated subjects with no suicidal ideation, those with suicidal ideation only, and those having made suicide attempts to be on a continuum, but findings for males did not. The findings extend previous reports of higher "affectionless control" in suicidal adults, but suggest that this pattern may be stronger in females than males, and that maternal influences may be stronger than paternal influences.

Psychology of computers: XIV. Cognitive rehabilitation through computer games.

The purpose of this study was to test the hypothesis that computer games may be an efficient therapeutic tool in a cognitive rehabilitation program. 60 subjects who showed attention difficulties with or without cerebral dysfunctions participated in a 12-hr. training program based on intensive use of a computer game. Analyses show improvement for the experimental group on scanning and tracking variables, notwithstanding the nature of their particular dysfunctions. Recommendations are presented regarding the nature and content of the cognitive tasks in a rehabilitation program.