Mother-newborn ABO group discrepancy caused by a rare BW.17 variant.

Several ABO gene mutations are known to determine rare subgroups: these ABO variants are often responsible for weak or null phenotypes and may cause an incorrect determination of the serotype. Here we describe for the first time the phenotypic discrepancy of a rare B allele within the same Caucasian family that depends on the co-inheritance with A or H antigen. Blood samples from newborns, mothers, and grandmothers were analysed through routine serotype and genotype testing. Blood compatibility test was performed for red blood cells or serum of the grandmother. ABO exons were investigated through PCR and sanger sequencing. According to serology, the phenotype of the mother was AB, while it was O for the newborn. Genotype analysis confirmed that the mother was AB, while the newborn was found to be B. Sanger sequencing revealed the presence of a rare mutation in both individuals (784 G>A, D262N), corresponding to the ABO*BW.17 allele. The grandmother was found to have the same genotype/serotype of the newborn. Crossmatch testing suggested that subjects with this genotype/serotype might be considered O donors and recipients.

Toward a Unified Language (and Application) of Salutogenic Design: An Opinion Paper.

This opinion paper posits that there is a misalignment of how the theory of salutogenesis is defined by scholars and the way that salutogenesis is reflected in architectural practice. Many practitioners use this term to describe their work without a clear understanding of the social theory behind it. A background on the original theory, brief review of its subsequent development, and the importance of stress in determining health are explored. Antonovsky, originator of the salutogenesis theory, believed that health was represented by a spectrum ranging from disease to wellness and that stress and an individual's ability to respond to it determined where they would be on that spectrum. His work indicates that one's resources determined the impact of a stressor. The elements Antonovsky termed environmental generalized resistance resources (GRR) are considered because they are within the purview of design practitioners to influence. While Antonovsky's work became focused on an aspect of salutogenesis he termed sense of coherence (SOC), he encouraged exploration of additional aspects. This article proposes an expanded definition of salutogenesis that includes five aspects of environmental GRR that can address or alleviate specific causes of stress-SOC, biophilia, relaxation response, self-empowerment, and prospect and refuge. A more specific language and a common, consistent way of understanding what makes an environment salutogenic emerges with examples of each described. A common language will bring consistency to design practice and make complex social theories more accessible for practitioners, leading to them being more rigorously and universally applied in design.

Patient Blood Management: transfusion appropriateness in the post-operative period.

BACKGROUND: Within the context of Patient Blood Management (PBM) policy for the peri-operative period, the transfusion medicine unit of our institution adopted a series of strategies to support and enhance red blood cell (RBC) transfusion best practices. This study aimed to evaluate the appropriateness of RBC transfusion therapy in the post-operative period, before and after starting a multifactorial PBM policy. MATERIALS AND METHODS: A 2-phase observational study was conducted on patients who underwent major surgery. The study was designed as follows: 3 months of preliminary audit, followed by multifactorial PBM policy, and a final audit. The policy comprised seminars, teaching lessons, periodic consultations and the insertion of Points of Care. RBC transfusion appropriateness was evaluated in both audits. RESULTS: The preliminary audit, performed on 168 patients, showed that 37.7% of the patients were appropriately transfused. The final audit, performed on 205 patients, indicated a significant increase of RBC transfusion appropriateness to 65.4%. DISCUSSION: In our experience, our multifactorial PBM policy improved the RBC transfusion appropriateness in the post-operative period. We believe that our multifactorial PBM policy, which comprises the insertion of Points of Care, supported the healthcare workers in the transfusion decision-making process. This enhancement of transfusion appropriateness implies clinical and managerial advantages, such as reduced transfusion-related risks, optimisation of health care resources, and reduction in costs.

The analysis of tryptase in serum of sarcoidosis patients.

Sarcoidosis is a systemic granulomatous disease of unknown etiology characterized by activation of macrophages and T lymphocytes. Relatively little is known about the role of mast cells and their mediators in the pathogenesis of sarcoidosis. Tryptase is an enzyme produced by activated mast cells, regarded as a marker of mast cell activation. To analyse tryptase concentrations in serum of sarcoidosis patients in an attempt to define the role of tryptase and mast cells in the pathogenesis of sarcoidosis and to evaluate the potential of tryptase as marker of disease severity. Quantitative analysis of tryptase concentrations was performed in serum of patients with stable sarcoidosis (n = 12), progressive sarcoidosis (n = 23) and controls (n = 13). Patients enrolled in the study had been monitored at Siena Regional Referral Centre for Sarcoidosis from onset for at least 12 months. Significantly higher concentrations of tryptase were found in peripheral blood of sarcoidosis patients (6.08 +/- 3.98 microg/l) than controls (2.96 +/- 1.75microg/l; p = 0.012). Patients with progressive disease showed the highest tryptase concentrations in serum. Tryptase and mast cells may be involved in the immunopathogenesis of sarcoidosis and further studies are required to understand if tryptase may represent a marker of sarcoidosis severity.

Quality of life, anxiety and depression in sarcoidosis.

OBJECTIVES: This study sought to evaluate the quality of life and the presence of psychiatric disorders in patients with sarcoidosis. METHODS: Data were collected from 80 consecutive outpatients with sarcoidosis presenting to the Sarcoidosis Center of the Respiratory Diseases Division at the University of Siena, Italy. RESULTS: Forty-four percent of the subjects endorsed at least one psychiatric DSM-IV axis I diagnosis. Specifically, 25% of subjects met the criteria for Major Depressive Disorder, 6.3% for Panic Disorder, 6.3% for Bipolar Disorder, 5% for Generalized Anxiety Disorder and 1.3% for Obsessive Compulsive Disorder. Statistically significant correlations were found between Forced Expiratory Volume in the first second (FEV(1)), Forced Vital Capacity (FVC) and several domains of the Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q) questionnaire. Subjects with multi-systemic involvement, with asthenia and with a more severe radiographic stage and subjects receiving steroids, reported a poorer quality of life. CONCLUSIONS: Sarcoidosis is associated with a high rate of psychiatric comorbidity and may contribute to a poorer quality of life. A referral for a psychiatric or psychological evaluation and counseling should be considered for many of the sarcoidosis patients.