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1.
MCN Am J Matern Child Nurs ; 34(1): 50-6, 2009.
Article in English | MEDLINE | ID: mdl-19104320

ABSTRACT

PURPOSE: To identify the perceptions of nurses caring for women giving birth in nurse-managed, highly technological birthing environments. METHODS: A purposive sample of 18 perinatal nurses employed at four different in-hospital birthing centers utilizing nurse-managed labor models participated in audio-taped interviews. Interviews were transcribed and analyzed for themes. RESULTS: Themes included (1) nurses' aversion to birth plans, (2) barriers to the provision of supportive care for birthing women, (3) differences in caring for women who are medicated versus those who are unmedicated, and (4) the rewards of caring for birthing women. Although practicing in very busy, highly technological birthing units, many study participants seemed to focus on the value of predictability and efficiency guiding the provision of nursing care to birthing women. NURSING IMPLICATIONS: Women's birth experiences are heavily influenced by perinatal nurses and their care, yet the voices of these nurses have not been represented fully in nursing research. Nurses in this study reported multiple challenges in the provision of supportive care for their patients, and a wider dialogue on this topic within perinatal nursing is warranted. More research is needed on this topic, and intervention studies documenting innovative methods of teaching, orienting, and continually educating these nurses should be undertaken.


Subject(s)
Birthing Centers/standards , Nurse Midwives/psychology , Nurse Midwives/standards , Nurse-Patient Relations , Patient Care/psychology , Adult , Female , Humans , Middle Aged , Mothers/psychology , Nursing Evaluation Research , Nursing Methodology Research , Patient Care/methods , Patient-Centered Care/standards , Pregnancy , Young Adult
2.
Eur J Hum Genet ; 16(11): 1301-10, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18523453

ABSTRACT

The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects. We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. Both these interstitial deletions are completely contained within the largest terminal deletion, but do not overlap with the nine smallest terminal deletions. These interstitial deletions indicate that haploinsufficiency for 22q13 genes other than SHANK3 can have major effects on cognitive and language development. However, the relatively mild speech problems and normal cognitive abilities of a parent who transmitted her identical interstitial deletion to her more severely affected son suggests that the phenotype associated with this region may be more variable than terminal deletions and therefore contribute to the relative lack of correlation between clinical severity and size of terminal deletions. The phenotypic similarity between the interstitial deletions and non-overlapping small terminal 22q13 deletions emphasizes the general nonspecificity of the clinical picture of the 22q13 deletion syndrome and the importance of molecular analysis for diagnosis.


Subject(s)
Carrier Proteins , Chromosomes, Human, Pair 22/genetics , Gene Deletion , Intellectual Disability/genetics , Language Development Disorders/genetics , Child , Humans , Infant , Intellectual Disability/pathology , Language Development Disorders/pathology , Male , Nerve Tissue Proteins , Syndrome
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