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.     

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.     

Circulating Pancreatic Polypeptide in Patients with Adenocarcinoma of the Bile Duct

Using radioimmunoassay methods, the blood of patients with pancreatic tumors was screened for circulating polypeptide hormones. This screening discovered pancreatic polypeptide in abnormally high concentration in the serum of six of seven patients with adenocarcinomas of the bile duct. the assay appears to be very sensitive finding excessive residual pancreatic polypeptide production after palliative resections. Serum pancreatic polypeptide assays warrant evaluation as an aid in the diagnosis and management of patients with bile duct tumors.     

Finding a place for needle exchange programs

Using the concepts of stigma, NIMBY and place, this paper examines the difficulties of finding a place for needle exchange programs (NEPs). Data were drawn from semi-structured interviews with NEP staff (Ontario, Canada) that focused on operational policies and routines. An iterative, inductive analytic process was used. NEPs, their staff and clients are not always welcome additions to organizations or communities because of concerns about the ‘dangerousness’ of clients and the potential contamination of communities and workplaces by stigmatized individuals and their artefacts (e.g. contaminated injection equipment). Public parks where a lot of drug ‘action’ takes place are good destinations for outreach workers but these places are contentious sites for NEP activities, particularly when residents do not perceive a need for the program and/or want to redefine their neighbourhoods. Issues of ‘place’ are further complicated when service delivery is mobile. Finding a place within organizations is difficult for NEPs because of concerns about the diversion of limited financial and spatial resources to ‘non-core’ activities and ‘undesirable’ clients. Workers respond to these challenges by contesting the social and spatial boundaries of who is an acceptable client or neighbour and refuting the perceived ‘differentness’ of injection drug users. Implementation of an unpopular service involves a delicate balancing act of interests, understanding of the dynamics of particular communities and a willingness to reinvent and redefine programs. The sociospatial stigmatization of injection drug use has had a negative impact on NEPs, and perhaps limits HIV prevention efforts.     

The hereditary spectrum of pancreatic cancer: the Edmonton experience.

OBJECTIVE: Pancreatic cancer is known to aggregate in some families and has been associated with a wide variety of cancer syndromes. The authors describe their experience with pancreatic cancer and the range of associated cancer syndromes. METHODS: The charts of all patients seen for concern of a hereditary cancer syndrome in the Cancer Genetics Clinic at the University of Alberta between 1995 and 2002 were reviewed. RESULTS: Forty families reported a personal or family history of pancreatic cancer in the context of a possible hereditary cancer syndrome. Three additional families reported a history of pancreatitis. Twenty-four (56%) of those families were suspected of having a hereditary breast and ovarian cancer syndrome. A further seven (16%) were suspected of having hereditary nonpolyposis colon cancer. Only three (7%) were believed to be at risk for a site-specific pancreatic cancer syndrome. Another three (7%) were suspicious for hereditary pancreatitis. The remaining family histories were suggestive of Li-Fraumeni syndrome, von Hippel-Lindau syndrome or a nonspecific cancer predisposition. CONCLUSIONS: With such a wide variety of hereditary cancer syndromes associated with pancreatic cancer, an accurate assessment of the family history is essential to determine the most appropriate cancer screening for at-risk family members and to guide any molecular testing that may be offered.