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.     

Production of tumor necrosis factor by rat mesangial cells in response to bacterial lipopolysaccharide

Tumor necrosis factor (TNF) is a cytokine which is produced by mononuclear phagocytes upon activation by bacterial lipopolysaccharide (LPS) and various other stimuli. In immune-mediated glomerulonephritis, infiltration of glomeruli by monocytes-macrophages is associated with production of TNF. The purpose of the present experiments was to determine whether mesangial cells could also contribute to glomerular TNF synthesis. TNF activity has been determined in the culture medium of rat mesangial cells using a L-929 fibroblast lytic assay. This activity was detectable only when the cells were exposed to LPS (0.1 to 10 micrograms/ml) and for periods longer than one hour. The cytotoxic factor was identified as TNF since: (1) the lytic activity was completely inhibited by an anti-mouse TNF polyclonal antibody and was associated with suppression of lipoprotein lipase activity in adipocytes; (2) its molecular weight (110,000 daltons) corresponded to that observed for murine TNF under non-denaturing conditions; and (3) mRNA encoding TNF was expressed by mesangial cells two hours after addition of LPS. To assess the mechanisms whereby TNF production was regulated, the role of prostaglandin E2 (PGE2) was determined. LPS caused a dose-dependent increase of PGE2 synthesis by mesangial cells. Treatment by indomethacin promoted a suppression of PGE2 production together with an increase of TNF synthesis, indicating that PGE2 acted in a negative feedback manner to regulate the production of TNF. Addition of PGE2 (0.1 to 300 nM) or 8-bromo cyclic AMP (0.1 to 100 microM) induced similar dose-dependent reductions of TNF synthesis. Thus the inhibitory effect of PGE2 probably required in part cyclic AMP accumulation.(ABSTRACT TRUNCATED AT 250 WORDS)     

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.