Molecular genetics and transfusion management in a child with Bernard Soulier syndrome.

We present a case of Bernard Soulier syndrome in a 9-year-old boy caused by a novel genetic mutation. This child was shown to be homozygous for a single nucleotide deletion (c.1077delG) in the GP1BA gene not previously reported. Clinically, the boy has become refractory to platelet transfusions with both allo-antibodies and iso-antibodies and a massive transfusion requirement for ongoing haemorrhage. We describe the critical role that the blood product transfusion continues to play in the management of Bernard Soulier syndrome and discuss therapeutic options in these patients.     

Predictors of oral health quality of life in older adults

There is limited information regarding oral health status and other predictors of oral health‐related quality of life. An association between oral health status and perceived oral health‐related quality of life (OHQOL) might help clinicians motivate patients to prevent oral diseases and improve the outcome of some dental public health programs. This study evaluated the relationship between older persons' OHQOL and their functional dentition, caries, periodontal status, chronic diseases, and some demographic characteristics. A group of 733 low‐income elders (mean age 72.7 ISD=4.71, 55.6% women, 55.1% members of ethnic minority groups in the U.S. and Canada) enrolled in the TEETH clinical trial were interviewed and examined as part of their fifth annual visit for the trial. OHQOL was measured by the Geriatric Oral Health Assessment Index (GOHAI); oral health and occlusal status by clinical exams and the Eichner Index; and demographics via interviews. Elders who completed the four‐year assessment had an average of 21.5 teeth (SD=6.9). with 8.5 occluding pairs (SD=4.6), and 32% with occlusal contacts in all four occluding zones. Stepwise multiple regressions were conducted to predict total GOHAI and its subscores (Physical, Social, and Worry). Functional dentition was a less significant predictor than ethnicity and being foreign‐bom. These variables, together with gender, years since immigrating, number of carious roots, and periodontal status, could predict 32% of the variance in total GOHAI, 24% in Physical, 27% in Social, and 21 % in the Worry subscales. These findings suggest that functional dentition and caries influence older adults' OHQOL, but that ethnicity and immigrant status play a larger role.     

Maternal Position at Midwife‐Attended Birth and Perineal Trauma: Is There an Association?

ABSTRACT: Background: Most women will sustain some degree of trauma to the genital tract after vaginal birth. This study aimed to examine the association between maternal position at birth and perineal outcome in women who had a midwife‐attended, spontaneous vaginal birth and an uncomplicated pregnancy at term. Methods: Data from 3,756 births in a major public tertiary teaching hospital were eligible for analysis. The need for sutures in perineal trauma was evaluated and compared for each major factor studied (maternal age, first vaginal delivery, induction of labor, not occipitoanterior, use of regional anesthesia, deflexed head and newborn birthweight >3,500 g). Birth positions were compared against each other. Subgroup analysis determined whether birth positions mattered more or less in each of the major factors studied. The chi‐square test was used to compare categorical variables. Results: Most women (65.9%) gave birth in the semi‐recumbent position. Of the 1,679 women (44.5%) who required perineal suturing, semi‐recumbent position was associated with the need for perineal sutures, whereas all‐fours was associated with reduced need for sutures; these associations were more marked in first vaginal births and newborn birth weight over 3,500 g. When regional anesthesia was used, semi‐recumbent position was associated with a need for suturing, and lateral position associated with a reduced need for suturing. The four major factors significantly related to perineal trauma included first vaginal birth, use of regional anesthesia, deflexed head, and newborn weight more than 3,500 g. Conclusions: Women should be given the choice to give birth in whatever position they find comfortable. Maternity practitioners have a responsibility to inform women of the likelihood of perineal trauma in the preferred birth position. Ongoing audit of all clinicians attending births is encouraged to further determine effects of maternal birth position and perineal trauma, to investigate women's perception of comfortable positioning at birth, and to measure changes to midwifery practice resulting from this study.     

Needs and needs assessment: their components and definitions with reference to dementia

The concept of need and the practice of needs assessment are both subject to a wide range of interpretations, to the likely detriment of individual assessments and to multidisciplinary working. Clear definition is important for individual assessment, for the development of multidisciplinary tools and in gathering planning information. The concept of need is clarified, firstly by distinguishing between need and the difficulties that engender it, and secondly through a taxonomy of need. These assist clear definitions of both need and needs assessment when linked with a consideration of the current help a person receives and a specification of the type of help required by a person to meet their needs. Such definitions have implications for the role of needs assessment in individual assessment, service evaluation, service management and planning and in the development of multidisciplinary needs assessment tools.     

Therapeutic progress I: Current treatment of rheumatoid arthritis

Over recent years the pharmacological treatment strategy for rheumatoid arthritis (RA) has changed. An early, aggressive approach has been adopted with a view to maintaining functional capacity. The changing role of nonsteroidal antiinflammatory agents is discussed in the light of the potential toxicity of this class of drugs. The current use of second-line agents is dealt with in depth and includes guidelines to patient monitoring. Particular attention has been paid to the growing use of cyclosporin A in the treatment of RA as this drug represents the newest, most potent, nonexperimental form of treatment. The questions of when to introduce second-line agents, who should receive treatment and how many drugs should be prescribed are all addressed in this review. The relative efficacy and toxicity of these agents is discussed and a treatment protocol is proposed.