Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome

The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who had severe genital ambiguity and partial androgen insensitivity were investigated. Neither of the cousins had genital abnormalities as marked as the index case, who also had qualitatively abnormal androgen binding and two mutations of the androgen receptor gene. Despite marked phenotypic differences between the index case and his cousins, similar androgen binding and the same androgen receptor mutations were shown in the cousins. Furthermore, one of the androgen receptor gene mutations has been shown in the mother and sister of one of the boys indicating that they are carriers. Thus phenotypic variation in families affected by partial androgen insensitivity is dependent on factors other than abnormalities of the androgen receptor gene alone. Although carrier status in partial androgen insensitivity can be determined, the severity of genital abnormalities in an affected offspring cannot be reliably predicted.     

Family Mental Health Care in the Neonatal Intensive Care Unit

The potential role of the neonatal intensive care nurse in mental health promotion is explored. The focus is upon assessment and intervention of families who are at risk for child abuse and future dysfunction. The importance of support systems during a crisis period is emphasized.     

QUALITY CARE ASSESSMENT AND ASSURANCE

From its beginnings in 1955, the American College of Nurse-Midwives has supported the concept of Quality Care Assessment and Assurance (QCAA) and charged its members with responsibility to involve themselves in such activities within their practice. Six tools are reviewed that represent a sound basis for the development of QCAA programs within nurse-midwifery practice, the ultimate goal being the provision of optimal health care to women and the childbearing family.     

Cardiac MRI in Congenital Heart Disease – Our Experience

A significant recent advance that has occurred world over in the continuously evolving field of Magnetic Resonance Imaging (MRI) practice is the introduction of Cardiac applications. Cardiac MRI has moved to the centre stage of clinical management strategy by non-invasively imaging the structure as well as function of the heart. It has a wide range of specific applications such as delineation of morphological anatomy, quantification of flow and pressure across cardiac valve dysfunction, evaluation of myocardial function, assessment of infarcts, mapping coronary arteries and so on. Evaluation of congenital heart disease (CHD) is an important application of Cardiac MRI since the morphological details of chambers, septum, defects and anomalous connections are depicted accurately. Besides, flow information across valves, chambers, outflow tracts and shunts are also provided. This article describes our experience in the use of cardiac MRI in congenital heart disease.Key Words: Cardiac MRI, Congenital heart disease, Cyanotic and Acyanotic heart disease     

Part V. Self-care for Continued Breastfeeding

The resources of motivation and knowledge that make the nurse a valuable support to the new mother initiating breastfeeding are needed again, equally as much, as the nurse prepares the mother for self-care at home and remains available for counseling afterwards. There are general guidelines for promoting continued breastfeeding success and for avoiding potential problems. The nurse should be familiar with these and with how to proceed in special situations and with specific breastfeeding problems. "Self-Care for Continued Breastfeeding" and "Some Breastfeeding Problems and Solutions", presented below, end the series on breastfeeding begun in the July/August issue.
The advantages of continuing breastfeeding beyond the neonatal period are reviewed and general guidelines for selfcare at home are discussed. Developmental changes in the instant and psychological and physical changes in the mother are outlined and related to breastfeeding success. Advice for working mothers and for weaning is also presented.     

Growth patterns and final height of survivors of childhood leukemia

Growth patterns of 85 survivors of childhood leukemia were analyzed retrospectively. All patients remained in first remission with no central nervous system involvement. The mean age at diagnosis was 5.8 +/- 3.6 years. The diagnoses were acute lymphoblastic leukemia (ALL) in 68 patients (80%) and acute non-lymphoblastic leukemia (ANLL) in 17 patients (20%). All except two patients received cranial irradiation: 51 patients with 1,800 cGy and 32 patients with 2,400 cGy. Mean height SDS was -0.7 +/- 1.36 at the time of diagnosis, which decreased to -0.92 +/- 1.31 by the end of treatment, and further decreased to -1.14 +/- 1.38 at 6 years after cessation of treatment. Mean weight SDS was -0.55 +/- 1.13 at the time of diagnosis, increasing slightly to -0.39 +/- 1.02 at the end of treatment, and decreasing to -0.46 +/- 1.65 at 6 years after cessation of treatment. Of these survivors, 51 patients (26 boys and 25 girls) reached a final height that was 1.04 SDS or 5.3 cm less than their target height. There was no difference of height and weight SDS between patients with ALL and ANLL. Girls and boys had different growth patterns. Girls had a slightly increased height SDS and gained more weight after cessation of treatment, resulting in less final height deficit and overweight for height, whereas boys had further height and weight reduction resulting in more deficit of final height.     

The prevalence of peripheral intravenous cannulae and pattern of use: A point prevalence in a private hospital setting

Aims and objectives

To determine the prevalence and pattern of use of peripheral intravenous cannulae in hospital wards.

Background

Peripheral intravenous cannulae are commonly used in acute health care to directly access the bloodstream for the administration of medications, intravenous fluids and blood products. Peripheral intravenous cannulae are associated with multiple adverse events including hospital‐acquired bloodstream infection, thrombophlebitis and pain/discomfort. Administration of intravenous fluids is associated with impaired mobility and nocturia which may increase falls risk in the older people.

Design

Observational, point prevalence study.

Methods

Three private hospitals comprising a total of 1,230 beds participated in the study. Nurses recorded the presence of a peripheral intravenous cannulae, duration of insertion, state of the dressing and whether the peripheral intravenous cannulae was accessed in the previous 24 hr and for what purpose. Nurses were also asked whether they would replace the peripheral intravenous cannulae should it fail.

Results

Approximately one‐quarter of patients had a peripheral intravenous cannulae, the majority of which had been present for <24 hr. The major use of the peripheral intravenous cannulae was antibiotic administration. Administration of intravenous fluids occurred in the presence of normal oral fluid intake. Nurses would not replace one‐third of peripheral intravenous cannulae in the event of failure. A majority of patients were at increased falls risk, and one‐third of these were receiving intravenous fluids.

Conclusions

There is room for improvement in the utilisation of peripheral intravenous cannulae, particularly in removal and associated use of intravenous fluids. Alternative strategies for medication administration and timely switch to the oral route may reduce the risks associated with intravenous fluids.

Relevance to clinical practice

Vigilance is required in the use of peripheral intravenous cannulae. Consider transition of medication administration to oral intake where possible to minimise risks associated with the use of invasive devices and increased fluid intake.