103,602 research outputs found
Ophthalmic complications of spina bifida and hydrocephalus
No full textThis thesis represents an attempt to further our knowledge of the ophthalmic complications of spina bifida and hydrocephalus by means of literature review and a long term clinical study, and to determine whether regular ophthalmic supervision can assist in the general management of affected children. The ophthalmic complications of spina bifida have often been reported in the literature and thought to merit regular supervision of affected children, yet few centres currently offer this service. In this study 322 children attending one regional centre were examined repeatedly over a six year period by one ophthalmologist. Ophthalmic complications were found to be very common. They frequently provided evidence of raised intracranial pressure due to shunt dysfunction even when other objective evidence was lacking. Every spina bifida and hydrocephalus clinic should have an ophthalmalogist in its medical team. Preservation of visual function and early diagnosis of raised intracranial pressure in these children should result from this arrangement
Lifestyle in adults aged 35 years who were born with open spina bifida: prospective cohort study.
No full textBACKGROUND AND METHODS: From 1963 to 1971, 117 babies with open spina bifida were treated non-selectively from birth. In 2002 we reviewed all the survivors by postal questionnaire and telephone call. The aims were to find out how many were living independently in the community or were in open employment or drove a car. In addition to these achievements we recorded health, medication and admissions to hospital and asked how much daily help they needed.
RESULTS: Ascertainment was 100%. There had been 63 deaths, mainly of the most severely affected. The mean age of the 54 survivors was 35 years. The outcome in terms of disability ranged from apparent normality to total dependency. It reflected both the neurological deficit, which had been recorded in infancy in terms of sensory level, and events in the CSF shunt history. Overall about 2 in 5 of the survivors lived independently in the community, 2 in 5 drove a car, 1 in 5 was in competitive employment and 1 in 5 could walk 50 metres.
CONCLUSION: Although those who survived to age 35 years tended to be less disabled, 2 in 5 continued to need daily care
3D ultrasound in fetal spina bifida
No full text3D ultrasound can be used to study the fetal spine, but skeletal mode can be inconclusive for the diagnosis of fetal spina bifida. We illustrate a diagnostic approach using 2D and 3D ultrasound and indicate possible pitfalls
P-A-T-T-E-R-N-S
No full textSyracuse University School of Architecture Fall 2014 Lecture Series: P-A-T-T-E-R-N-S by Marcelo Spina and Georgina Huljich on September 23, 2014 at Slocum Hall
Abnormal skull findings in neural tube defects
No full textThe human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical types of neural tube defects are recognized, anencefaly and spina bifida being the most common. Such malformations are generally associated with cranial abnormlities
The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk.
No full textContains fulltext :
51642.pdf (Publisher’s version ) (Closed access)The 894G>T single nucleotide polymorphism (SNP) in the endothelial NOS (NOS3) gene, has recently been associated with embryonic spina bifida risk. In this study, a possible association between the NOS3 894G>T SNP and spina bifida risk in both mothers and children in a Dutch population was examined using both a case-control design and a transmission disequilibrium test (TDT). Possible interactions between the NOS3 894G>T SNP and the MTHFR 677C>T SNP, elevated plasma homocysteine, and decreased plasma folate concentrations were also studied. The NOS3 894TT genotype did not increase spina bifida risk in mothers or children (OR 1.50, 95%CI 0.71-3.19 and OR 1.78, 95%CI 0.75-4.25, respectively). The TDT demonstrated no preferential transmission of the NOS3 894T allele (Chi2=0.06, P=0.81). In combination with the MTHFR 677TT genotype or elevated plasma homocysteine concentrations, the NOS3 894GT/TT genotype increased maternal spina bifida risk (OR 4.52, 95%CI 1.55-13.22 and OR 3.38, 95%CI 1.46-7.84, respectively). In our study population, the NOS3 894GT/TT genotype might be a risk factor for having a spina bifida affected child in mothers who already have an impaired homocysteine metabolism
Childhood narratives of adults with spina bifida: a qualitative analysis
No full textBACKGROUND:
Spina bifida is a congenital condition that can lead to a range of impairments that
vary in severity. Although incidence has declined since the 1970s, medical progress
means that there is a growing community of adults ageing with spina bifida. This
thesis looks at the lived experience of that community, through the stories they tell
about their childhood experiences and the relevance those stories have for them
now. This lived experience is derived from interviews with research participants born
with spina bifida in the 1960s and the 1990s and also the personal experience of the
author, born with spina bifida in the 1960s.
METHODS:
This thesis is made up of three interwoven strands. Firstly, there is an archival
investigation of the treatment of babies born with spina bifida from the late 1950s
onwards. This includes medical progress that led to improvements in mortality but
also selection of who would benefit from that progress. This illustrates the lesser
value put on the lives of those born with spina bifida and their resulting
stigmatisation, setting the socio-historical context for the rest of the thesis. Secondly,
narrative enquiry is used to explore the lived experience of the research participants,
via semi-structured interviews. The interviews were analysed using reflexive
thematic analysis in order to construct themes. The third strand is the personal
account of the author. This is used throughout the thesis, including the discussion of
the research interviews, responding to the data in a reflexive way, rather than as a
separate section.
FINDINGS:
The increased survival of children born with spina bifida led to a reaction amongst a
significant part of the medical (and political) establishment towards selection for
treatment. This is exemplified by the situation in Sheffield in the 1970s, where a third
of babies with spina bifida were selected for surgery and the remaining two thirds
were selected for death. A connection is made between selection in the 1960s and
70s and the contemporary high rates of termination of pregnancies where spina
bifida is detected. It is argued that these are associated with the stigmatisation of
both those born with spina bifida and their parents. Whether they were consciously
aware of it or not, this formed the societal background that the research participants
grew up in – how people born with spina bifida were regarded, talked about and
treated.
Three themes are discussed following analysis of the interview data. “I was baptised
in hospital” deals with the experience of the 1960s research participants of growing
up with the story that they were not expected to live and yet went on to do so. The
significance of growing up with such a story is considered through a number of
different lenses, including the way that it subverts the medical model of disability and
the participants’ own association of this story with a sense of determination to
overcome obstacles in life. A second theme, Things have got better (up to a point),
explores the striking differences between the experiences of the research
participants born in the 1960s and those born in the 1990s. These differences
include the way that parents discussed – or did not discuss - spina bifida with the
participants and the effect that this had on their sense of identity and self-worth.
Another important difference discussed is the experience of school and how the
development of a more inclusive approach has led to better self-confidence and selfesteem.
In both cases, progress is related to both a reduction in the stigma
associated with spina bifida and a growth in the ideas behind the social model of
disability. However, despite the improvements described, the negative effects of
assessment for disability benefits was something experienced in both groups. The
third theme, The transformative power of love, considers the transforming effect of
being loved by a partner who accepts you as you are, countering the years of
othering that went before. The personal experience – and personal journey - of the
author is interwoven through the other discussions above. This takes the form of
recollection of their own life with reproduction of some supporting historical material,
and also of reflexive interaction with both the interviews and associated themes and
with the material on selection.
CONCLUSIONS:
The thesis helps provide an understanding of the lived experience of adults with
spina bifida. The experience of those born in the 1960s, particularly the negative
experiences of education and parental communication is related to the state-enabled
stigmatisation of spina bifida. The importance of love as a counteracting force to the
negative effect of stigma on mental health is discussed. The relevance of this for the
provision of counselling and psychotherapy services for this community is
considered
Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningocele
No full textMyelomeningocele (MMC), the most severe form of spina bifida (SB), causes neurological deficit. Injury to the spinal cord is thought to begin in utero. We investigated whether brain-specific proteins (BSPs) would enable us to monitor the development of MMC-related tissue damage during pregnancy in an animal model with naturally occurring SB (curly tail/loop tail mouse; n = 256). Amniotic fluid levels of neurofilament heavy chain (NfH), glial acidic fibrillary protein (GFAP) and S100B were measured by standard ELISA techniques. The amniotic fluid levels of all BSPs were similar in SB and control mice on embryonic day (E) 12.5 and 14.5, whereas a significant increase was observed for GFAP in SB mice on E16.5. Levels of all BSPs were significantly increased in SB mice on E18.5. The rapid increase in GFAP, paralleled by a moderate increase in NfH and S100B, suggests that spinal cord damage starts to accelerate around E16.5. The macroscopic size of the MMC was related to NfH level on E16.5 and E18.5, suggesting that axonal degeneration is most severe in large MMC. Amniotic fluid BSP measurements may provide important information for balancing the risks and benefits to mother and child of in utero surgery for MMC
Bladder augmentation in children with spina bifida: our experience
No full textThe Authors describe a personal technique of bladder augmentation in childre
Low fertility and the reform of maternity care in Italy: Which consequences for professionals and ens-users?
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