Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Table 1     

Increased risk of cancer at multiple sites after gastric surgery for peptic ulcer.

Of 5018 patients who had undergone gastric surgery at St James Hospital, Balham, at least 25 years ago, death certificates have been received for 2768, whilst 1746 patients are still alive and are flagged (Office of Populations, Censuses and Surveys (OPCS) will notify us of their death and its cause) and only 504 could not be traced. Mortality from cancers of various organs has been determined using a 'years at risk' calculation in five year bands. There was no increase in mortality risk from any cancers during the first 15 postoperative years, but from 20 years after operation there was a significant excess risk not only of cancer of the stomach (4.5-fold), but also of the large bowel (1.6-fold), bronchus (3.9-fold), pancreas (4.0-fold), biliary tract (9.1-fold), oesophagus (2.3-fold), bladder (2.4-fold), breast (4.0-fold), and cancer of all sites (3.3-fold). These findings are consistent with the production in the operated-upon stomach of circulating carcinogens with a 20 year latency period.     

Sister-sister incest as a manifestation of multigenerational sexual abuse

Incestuous child sexual abuse has received increasing attention recently, but relatively little attention has focused on the multigenerational dimensions of this problem. The case presented places incest into a multigenerational context and demonstrates how quickly family relationships may become eroticized in an uncommon form: between sisters.     

Children's categorisation of play and learning based on social context

While much time has been spent deliberating about the definition of play, little emphasis has been placed on what children themselves perceive as play. The aim of the present study was to examine social context as a cue for children's perceptions of play and learning. Ninety-two children aged between four and six years (mean four years nine months) participated in the study and completed the Activity Apperception Story Procedure. Children were asked to sort photographic stimuli into those they believed depicted play/not play and learning/not learning. Each of the stimuli were identified by independent raters as containing one of the following social cues; teacher absence (solitary activity, parallel activity or cooperative activity) or teacher presence (teacher involved activity or teacher directed activity). Findings revealed that children associated teacher absence with play. More specifically, children made links between play and the presence of peers (parallel and cooperative activity). Findings are discussed in relation to play in the early years curriculum, differences in children's early educational experiences and the importance of understanding children's perceptions of play.     

Factor structure of maladaptive behavior across the lifespan of persons with mental retardation

Data obtained on a sample of persons with mild to profound degrees of mental retardation (N = 8255) and ranging from birth to 98 years of age were factor analyzed to provide information on the structure of maladaptive behavior relative to age and degree of mental retardation. Using the Problem Behavior scales of the Inventory for Client and Agency Planning, two principal factors emerged for children with mild to profound degrees of retardation: Internalized Maladaptive and Externalized Maladaptive. For adolescents and young adults, a three-factor solution which varied by degree of retardation was most appropriate. For middle and older adults, three- and four-factor solutions were identified across all ages and degrees of retardation. Across all samples as many as six different types of dimensions were identified, indicating that the structure of maladaptive behavior may well be influenced by age and level of mental retardation.     

Missed opportunities for participation in prevention of mother to child transmission programmes: Simplicity of nevirapine does not necessarily lead to optimal uptake, a qualitative study

Background  

The objective of this study was to examine missed opportunities for participation in a prevention of mother-to-child transmission (PMTCT) programme in three sites in South Africa. A rapid anthropological assessment was used to collect in-depth data from 58 HIV-positive women who were enrolled in a larger cohort study to assess mother-to-child HIV transmission. Semi-structured interviews were conducted with the women in order to gain an understanding of their experiences of antenatal care and to identify missed opportunities for participation in PMTCT.     

Initial report of the use of an injectable porcine collagen-derived matrix to stimulate healing of diabetic foot wounds in humans

A novel injectable scaffolding matrix (E-Matrix) has been developed to accelerate wound healing in diabetic foot ulcers. This porcine collagen-derived matrix is designed to mimic tertiary embryonic connective tissue and to stimulate fetal wound repair mechanisms including angiogenesis. In vitro and animal studies have indicated a beneficial effect on tissue growth and an acceptable safety profile. In this report, we describe the initial use of this product in a pilot study of six humans with chronic nonhealing diabetic foot ulcers. A dramatic initial response to injection was seen, with an average wound size reduction of 72% 2 weeks after injection. Randomized trials are underway to define the potential benefit of this new treatment modality for diabetic foot ulcers.     

Comparative studies of chemotherapy of human tumor cells in vitro by tritiated thymidine uptake inhibition and soft agar clonogenic assay

A rapid nonsterile short-term assay has been investigated in which percent inhibition of incorporation of the DNA precursor (3H)-thymidine is measured following exposure of tumor cells to the test drugs. To evaluate the usefulness of the short-term assay in providing a rapid reliable assessment of chemotherapeutic response, the short-term assay was compared with the soft agar clonogenic assay. Sensitivity to five anticancer drugs was compared using three human tumor cell lines (epidermoid carcinoma of the oral cavity, pancreatic carcinoma, and bladder carcinoma). The short-term assay produced results that were similar to results of the clonogenic assay in two of the three tumors tested, for three drugs (cis-platin, doxorubicin, and BCNU), but did not detect responses to two antimetabolites (5-FU and MTX) in any tumor. Further studies of this short-term assay should focus on alkylating agents and other nonantimetabolites.     

Semen retrieval in spinal cord injured men.

A fertility programme for spinal cord injured men has been in progress for nearly 5 years. Thirty eight men have been treated in this programme. Electroejaculation, vibration ejaculation and subcutaneous physostigmine have all been used successfully to obtain semen. Semen has been obtained from 21 of 24 men with a lesion at T8 or above, and from 4 of 11 men with lesions below T10. There have been 8 pregnancies from 6 couples.