A point mutation in the GYPC gene results in the expression of the blood group Ana antigen on glycophorin D but not on glycophorin C: further evidence that glycophorin D is a product of the GYPC gene

Glycophorin C (GPC) and glycophorin D (GPD) are homologous sialoglycoproteins in the human red blood cell membrane. Both are thought to be encoded by the GPC gene (GYPC). We report that the rare blood group antigen, Ana, is expressed on GPD but not on GPC. cDNA was synthesized from total RNA obtained from two unrelated, heterozygous Ana+ blood donors and analyzed by the polymerase chain reaction using primers that spanned sequences encoded by the GYPC gene. The expected 412-bp fragment was generated, and sequencing of the amplified product showed a G-->T substitution at nucleotide 67 of the coding sequence, resulting in the substitution of alanine by serine at amino acid residue 23 of GPC and, presumably, residue 2 of GPD. To explain the expression of Ana on GPD but not on GPC, we postulate that the conformation of the amino acid residues at the N-terminal region of GPD determines the antigenic expression as this conformation would be different from that of the same sequence of amino acids occurring within GPC. Other possible reasons for antigen expression on a shorter protein product but not on the full-length protein product of the same gene are discussed. We extrapolate this reasoning to account for the expression of the common GE2 blood group antigen on GPD but not on GPC.     

Expression of the cutaneous lymphocyte antigen and its counter-receptor E-selectin in the skin and joints of patients with psoriatic arthritis

We have investigated whether the skin-homing T lymphocytes identified by the cutaneous lymphocyte antigen (CLA) are increased in the synovial membrane of patients with psoriatic arthritis. Twenty-six synovial samples (13 psoriatic arthritis, seven rheumatoid arthritis, six osteoarthritis) were obtained from involved knees. Lesional skin biopsies were taken from nine of the patients with psoriatic arthritis and six patients with psoriasis alone. All samples were single- and dual-stained for CLA and CD3 (to identify T lymphocytes) using HECA-452 (anti-CLA) and anti-CD3 monoclonal antibodies. E-selectin expression was also determined. The percentage of dual-stained lymphocytes was significantly greater in psoriatic skin than in synovium (P < 0.001) and similar between psoriatic and rheumatoid synovium. There was no significant difference in the percentages of CLA-positive cells in psoriatic skin in patients with psoriatic arthritis compared with psoriasis alone. The intensity of endothelial E-selectin expression was significantly greater in skin psoriasis than in synovium (P < 2 x 10(- 5)), and rheumatoid synovium had significantly greater expression than psoriatic synovium (P < 0.05). However, there was no significant correlation between E-selectin expression and the percentages of CLA- positive lymphocytes. This study provides further evidence that the CLA antigen is enriched on skin-homing lymphocytes. Conversely, the link between skin and joint inflammation in psoriatic arthritis does not seem to be explained by increased trafficking of CLA T cells to psoriatic synovium.      

Exploring NANDA's Definition of Nursing Diagnosis: Linking Diagnostic Judgments with the Selection of Outcomes and Interventions

Nursing diagnoses are described by definition as the basis for selection of interventions to achieve health outcomes. Processes used to link diagnostic judgments with desired outcomes and interventions can be holistic or reductionistic. A model of clinical inference is presented to illustrate the interrelated nature of judgments about diagnoses, desired outcomes, and interventions. Implications for development of diagnostic and taxonomic tools to guide holistic judgments are explored.     

Evolution of Sezary syndrome in the course of hairy cell leukemia

A patient with a history of "leukemia" for 19 yr and documented hairy cell (HC) leukemia for 10 yr developed mycosis fungoides and the Sezary syndrome. The manifestations of both diseases were diagnostic on clinical and pathologic grounds. Ultrastructural, immunohistochemical, and surface marker techniques proved the HC to have phenotypic characteristics of the T-helper subset of lymphocytes to which the Sezary cells (SC) also belonged. Both types of cells contained tartrate- resistant acid phosphatase. HC did not infiltrate the skin. SC did not contain ribosome lamellar complexes. Because of otherwise overlapping morphology and the apparent replacement of HC by SC, it is likely that the Sezary cells constituted a genetic variant of the original neoplastic clone represented by the hairy cells. Since the biologic and therapeutic implications of such clonal evolution may be important, subtle phenotypic changes should be looked for repeatedly in patients with these diseases.     

Social participation and family carers of people living with dementia in Australia

This paper reports on a study exploring the experiences and meaning of social participation for family carers of people living with dementia. Participants were 33 family carers (17 spouses and 16 adult children) of older adults diagnosed with dementia (any stage or type) who responded to advertisements by the national Alzheimer's association, Alzheimer's Australia. Data were collected through semi‐structured face‐to‐face and/or telephone interviews using an interview guide, which included prompts such as ‘Tell me about what social participation means to you’, and ‘How did this change…’. The methods of grounded theory were drawn upon to guide sampling and analysis of data, which continued until theoretical saturation was achieved and occurred over the period September 2011 to March 2012. Data arising from the interviews were analysed line‐by‐line and coded and categorised using the constant comparative method, with codes clustered into themes and with abstraction from the themes to arrive at the core process. The core category arising from the data was adaptation, which encompassed four main themes: autonomy to choose; the impact of care‐giving; employing strategies; and establishing meaningful connections. Carers went through a process whereby the ways in which they had previously participated socially were compromised, which often prompted an exploration of new ways in which to remain socially engaged.     

TME quality in rectal cancer surgery

Background

The concept of total mesorectal excision has revolutionised rectal cancer surgery. TME reduces the rate of local recurrence and tumour associated mortality. However, in clinical trials only 50% of the removed rectal tumours have an optimal TME quality. Patients: During a period of 36 months we performed 103 rectal resections. The majority of patients (76%; 78/103) received an anterior resection. The remaining patients underwent either abdominoperineal resection (16%; 17/103), Hartmann''s procedure (6%; 6/103) or colectomy (2%; 2/103).

Results

In 90% (93/103) TME quality control could be performed. 99% (92/93) of resected tumours had optimal TME quality. In 1% (1/93) the mesorectum was nearly complete. None of the removed tumours had an incomplete mesorectum. In 98% (91/93) the circumferential resection margin was negative. Major surgical complications occurred in 17% (18/103). 5% (4/78) of patients with anterior resection had anastomotic leakage. 17% (17/103) developed wound infections. Mortality after elective surgery was 4% (4/95).

Conclusion

Optimal TME quality results can be achieved in all stages of rectal cancer with a rate of morbidity and mortality comparable to the results from the literature. Future studies should evaluate outcome and local recurrence in accordance to the degree of TME quality.     

Satisfactory long-term results after simultaneous resection of the esophagus, stomach and pancreas

Purpose  Surgical procedures for esophageal cancer and chronic pancreatitis are demanding and still characterized by high morbidity and mortality. Cases of one-stage combined operations on the pancreas and esophagus with a long-term follow-up are rarely reported. Materials and methods  We present the case of a 54-year-old woman with a Barrett’s carcinoma and an 8-year history of severe chronic pancreatitis complicated with multiple episodes of cholangitis and resistant to conservative treatment. Results  After a successful one-stage operation consisting of esophagogastrectomy and pancreaticoduodenectomy, a 30-month disease-free follow-up with a good quality of life has been observed. Conclusion  Complicated surgical procedures such as one-stage multiple organ resections may offer, in selected cases, satisfactory long-term results, provided that patients are treated at a high-volume center by a multidisciplinary team.     

Double sigmoid colon perforation by a migrated biliary stent

The case of a female patient with a covered double perforation of the sigmoid colon is described. The perforation was due to a migrated plastic biliary stent inserted 3 weeks earlier for benign biliary obstruction and was facilitated by the presence of expressed diverticulosis of the colon. The lack of peritonitis and the early surgical procedure allowed a successful primary reconstruction after the colonic resection. Since the use of biliary stents is constantly increasing, such complications as stent migration and perforation should always be kept in mind by surgeons.