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.     

The use of peritoneoscopy in the detection of liver metastases.

Peritoneoscopy was carried out in 352 cancer patients with clinical suspicion of liver involvement in most cases. Principally because of patient discomfort, adequate liver biopsy was obtained in only 66% of 240 patients who underwent peritoneoscopy under local anesthesia while, under general anesthesia, biopsies could be taken in 90% of 112 patients. When the liver was macroscopically free of disease, the yield of positive peritoneoscopy was minimal regardless of the number of blind deep biopsies. Peritoneoscopy provided histologic demonstration of hepatic invasion in a total of 55 patients. Seven false-negative examinations out of 19 negative peritoneoscopies (36%) were identified by subsequent laparotomy or autopsy within 2 months. These preliminary data, although difficult to interpret in terms of accuracy of the method, point to the possible contributions of peritoneoscopy in detecting liver metastases.     

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.