St Thomas' Hospital

About: St Thomas' Hospital is a healthcare organization based out in London, United Kingdom. It is known for research contribution in the topics: Population & Pregnancy. The organization has 12105 authors who have published 15596 publications receiving 624309 citations. The organization is also known as: St Thomas's Hospital & St. Thomas's.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Abstract: Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide–polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder. This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation.

Effect of body mass index on IVF treatment outcome: an updated systematic review and meta-analysis

Abstract: There is conflicting evidence regarding the effect of raised body mass index (BMI) on the outcome of assisted reproductive technology In particular, there is insufficient evidence to describe the effect of BMI on live birth rates We carried out a systematic review and meta-analysis of studies to evaluate the effect of raised BMI on treatment outcome following IVF/ICSI treatment Subgroup analysis on overweight and obese patients was performed Literature searches were conducted on MEDLINE, EMBASE and the Web of Science from 1966 to 2010 Thirty-three studies including 47,967 treatment cycles were included Results indicated that women who were overweight or obese (BMI ≥ 25) had significantly lower clinical pregnancy (RR=090, P<00001) and live birth rates (RR=084, P=00002) and significantly higher miscarriage rate (RR=131, P < 00001) compared to women with a BMI < 25 following treatment A subgroup analysis of overweight women (BMI ≥ 25-299) revealed lower clinical pregnancy (RR=091, P=00003) and live birth rates (RR=091, P=001) and higher miscarriage rate (RR=124, P < 000001) compared to women with normal weight (BMI < 25) In conclusion, raised BMI is associated with adverse pregnancy outcome in women undergoing IVF/ICSI treatment, including lower live birth rates This effect is present in overweight as well as obese women

A cognitive and behavioural phenotype in Williams syndrome.

Abstract: Comparisons between children with Williams syndrome and control group children matched for age, sex, social class, and verbal intelligence provide support for a cognitive and behavioural phenotype in Williams syndrome. Children with the syndrome showed higher rates of behavioural and emotional difficulties when compared with the control group children, particularly in terms of concentration difficulties, excessive anxiety, and poor relationships with peers; and they also had significantly poorer visuo-spatial and motor skills. However, the Williams syndrome children were not uniformly poor in all areas of nonverbal abilities. Their visual recall skills were as good as those of the control group children, and their performance was superior to that of the control group children on a task of face recognition and on tasks requiring recall of verbal material.

Brain-derived neurotrophic factor is an endogenous modulator of nociceptive responses in the spinal cord

Abstract: The primary sensory neurons that respond to noxious stimulation and project to the spinal cord are known to fall into two distinct groups: one sensitive to nerve growth factor and the other sensitive to glial cell-line-derived neurotrophic factor. There is currently considerable interest in the ways in which these factors may regulate nociceptor properties. Recently, however, it has emerged that another trophic factor—brain-derived neurotrophic factor (BDNF)—may play an important neuromodulatory role in the dorsal horn of the spinal cord. BDNF meets many of the criteria necessary to establish it as a neurotransmitter/neuromodulator in small-diameter nociceptive neurons. It is synthesized by these neurons and packaged in dense core vesicles in nociceptor terminals in the superficial dorsal horn. It is markedly up-regulated in inflammatory conditions in a nerve growth factor-dependent fashion. Postsynaptic cells in this region express receptors for BDNF. Spinal neurons show increased excitability to nociceptive inputs after treatment with exogenous BDNF. There are both electrophysiological and behavioral data showing that antagonism of BDNF at least partially prevents some aspects of central sensitization. Together, these findings suggest that BDNF may be released from primary sensory nociceptors with activity, particularly in some persistent pain states, and may then increase the excitability of rostrally projecting second-order systems. BDNF released from nociceptive terminals may thus contribute to the sensory abnormalities associated with some pathophysiological states, notably inflammatory conditions.