Phenotypic diversity in siblings with partial androgen insensitivity syndrome

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. One had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raised as a boy. Both were shown to have the arginine 840 to cysteine mutation. The phenotypic variation in this family is thus dependent on factors other than abnormalities of the androgen receptor gene alone.     

Systemic Lupus Erythematosus: Perinatal and Neonatal Implications

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder that can affect almost all organ systems in the body. It is most common in women of childbearing age and may cause multiple peripartum complications. This article reviews the pathophysiology of SLE and the effects of SLE on fertility and pregnancy. The complexities of managing a pregnant patient with SLE are reviewed, and the importance of interdisciplinary collaboration discussed, as well as the effects of SLE on the fetus and a review of neonatal lupus erythematosus. Finally, a case report of a pregnant patient with SLE with challenging clinical management issues is presented.     

Patient participation in pressure injury prevention: giving patient's a voice

Pressure injuries burden patients and healthcare organisations, with some preventative practices having little impact on prevalence reduction. Patient participation in care may be an effective pressure injury prevention strategy, yet patient preferences are unknown. The aim of this interpretive study was to describe patients' perceptions of their current and future role in pressure injury prevention. Semi‐structured interviews were conducted with 20 adult inpatients recruited from four medical units, at two Australian metropolitan hospitals. Interview data were analysed using content analysis, with three categories emerging: ‘experiencing pressure injuries’; ‘participating in pressure injury prevention’; and ‘resourcing pressure injury prevention and treatment’. These categories reflect the complex nature of participants’ pressure injury experience. The findings suggest participants gather pressure injury knowledge from first‐hand and vicarious experience; knowledge they bring to hospital. Most participants preferred a proactive pressure injury prevention role. Many identified barriers in the healthcare environment that impeded their participation and affected their experience of pressure injuries and pressure injury prevention. If patient participation as a pressure injury prevention strategy is to be considered, nurses and organisations need to view patients as partners.     

Chemometric Evaluation of Near Infrared,Fourier Transform Infrared,and Raman Spectroscopic Models for the Prediction of Nimodipine Polymorphs

The objective of this study was to assess the performance of the chemometric model to predict the proportion of the recrystallized polymorphs of nimodipine from the cosolvent formulations. Ranging from 100% to 0% (w/w) of polymorph I, the two polymorphs mixtures were prepared and characterized spectroscopically using Fourier transformed infrared spectroscopy (FTIR), near-infrared spectroscopy (NIR), and Raman spectroscopy. Instrumental responses were treated to construct multivariate calibration model using principal component regression (PCR) and partial least square regression approaches. Treated data showed better model fitting than without treatment, which demonstrated higher correlation coefficient (R²) and lower root mean square of standard error (RMSE) and standard error (SE). Multiple scattering correction and standard normal variate exhibited higher R² and lower RMSE and SE values than second derivative. Goodness of fit for FTIR and NIR (R² ~ 0.99) data was better than Raman (R² ~ 0.95). Furthermore, the models were applied on the recrystallized polymorphs obtained by storing nimodipine-cosolvent formulations at selected stability conditions. The relative composition of the polymorphs differed with storage conditions. NIR-chemical imaging on recrystallized sample of nimodipine at 15°C qualitatively corroborated the model-based prediction of the two polymorphs. Therefore, these studies strongly suggest the importance of the potential utility of the chemometric model in predicting nimodipine polymorphs.     

Choledocholithiasis in African American and Hispanic Patients: A Comparison Between Painless Presentation and Classical Biliary Pain with Regards to Clinical Manifestations and Outcomes

Choledocholithiasis (CDL) usually presents with biliary pain. Painless CDL is also known to occur, especially in the elderly. The purpose of this study is to determine whether the mode of presentation (painful vs. painless) influences the clinical course and outcomes of CDL in African American and Hispanic patients. Ten years of admission and discharge records (January 1998–December 2007) were reviewed retrospectively, yielding 527 community hospital patients, aged 23–97 years, with the final diagnosis of CDL. Patients with painless presentation had higher odds of having comorbidities compared to patients presenting with pain. However, patients who presented with biliary pain were predominantly younger (mean age 34 years), and 59 % were Hispanic females (p = 0.001). In our study painless CDL was associated with higher morbidity and mortality.