Monozygotic twins with discordant karyotypes: a case report

A monochorionic twin pregnancy had normal male karyotype on chorionic villous sampling. At delivery, one twin presented as morphologically normal, the other as trisomy 21. A twinning event and chromosome division error shortly after conception resulted in monozygotic twins with discordant tissue karyotypes and blood chromosome chimerism for trisomy 21.     

Control of human hair growth by neurotrophins: brain-derived neurotrophic factor inhibits hair shaft elongation, induces catagen, and stimulates follicular transforming growth factor beta2 expression

Neurotrophins are important modulators of epithelial-mesenchymal interactions. Previously, we had shown that brain-derived neurotrophic factor (BDNF) and its high-affinity receptor tyrosine kinase B (TrkB) are prominently involved in the control of murine hair follicle cycling. We now show that BDNF and TrkB are also expressed in the human hair follicle in a manner that is both hair cycle dependent and suggestive of epithelial-mesenchymal cross-talk between BDNF-secreting dermal papilla fibroblasts of anagen hair follicles and subpopulations of TrkB+ hair follicle keratinocytes. As functional evidence for an involvement of BDNF/TrkB in human hair growth control, we show in organ-cultured human anagen hair follicles that 50 ng per mL BDNF significantly inhibit hair shaft elongation, induce premature catagen development, and inhibit keratinocyte proliferation. Quantitative real-time rtPCR analysis demonstrates upregulation of the potent catagen inducer, transforming growth factor beta2 (TGFbeta2) by BDNF, whereas catagen induction by BDNF was partially reversible through co-administration of TGFbeta-neutralizing antibody. This suggests that TrkB-mediated signaling promotes the switch between anagen and catagen at least in part via upregulation of TGFbeta2. Thus, human scalp hair follicles are both a source and target of bioregulation by BDNF, which invites to target TrkB-mediated signaling for therapeutic hair growth modulation.     

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism

OBJECTIVE: To determine the long-term health and development of a cohort of children in whom confined placental mosaicism (CPM) was diagnosed at prenatal diagnosis. METHODS: A retrospective cohort study was performed comparing 36 children in whom CPM had been diagnosed prenatally with 195 controls subjects in whom a normal karyotype had been detected prenatally. Data comprising birth information, health, health service utilisation, growth, development, behaviour, and the family were collected by a maternal questionnaire administered when the subjects were aged between 4 and 11 years. RESULTS: CPM cases did not differ from controls across a broad range of health measures and there were no major health problems or birth defects among the CPM group. No increase was detected in the incidence of intrauterine growth retardation (IUGR) among CPM cases; however, postnatal growth was reduced compared with controls (p = 0.047). Development and behaviour in CPM cases was similar to that of controls. CONCLUSIONS: The prenatal diagnosis of CPM is not associated with an increased risk of birth defects or developmental problems, but may be associated with decreased growth.     

Effects of a nutritional intervention in overweight/obese breast cancer patients

Introduction  Today breast cancer (BC) patients can expect more prolonged survival than in the past, but obesity at diagnosis and/or weight gain during adjuvant therapies increase the risk of recurrences as well as of weight-related disorders (diabetes, cardiovascular disease…). Therefore lifestyle intervention might offer a valuable approach to positively influence the prognosis of survivors. Design and objectives  The charts of 189 overweight/obese outpatients with “early-stage BC” were reviewed to evaluate the effects of nutritional intervention on weight, body mass index (BMI), waist circumference and metabolic parameters. After the first clinical evaluation, in 97 subjects (education group), dieting therapy and periodical medical examinations were connected with brief individual sessions of nutritional education. Instead, 92 patients (no-education group) were treated only with diet and routine visits. At baseline and after nearly 1 year of treatment, data (weight, waist circumference, BMI, systolic and diastolic pressure, metabolic parameters and results of a battery of self-administered questionnaires to assess Nutritional Knowledge (NK), Physical Functioning (PF) and Quality Of Life (QOL) of patients) were collected and compared. Results  Ninety-two (48.7%) patients completed a oneyear follow-up. The dropout rate was higher (73.2%) in traditionally treated women (no-education group) than in education group patients (22.8%); these data highlight that more educated patients completed the programme than non-educated patients (ODs 9.2, p < 0.000). The low follow-up rate makes any comparison between the 2 types of treatment impossible since the weight and metabolic changes of the vast majority of the non-educated subjects remain unknown. Anyway, the education group patients, in active follow-up at 1 year, showed significant weight loss (−6.6 kg, SD 3.7) and improvements of metabolic parameters and questionnaire scores. Conclusions  Data from the study show the usefulness of this simple nutritional education intervention, which appears to increase the adherence to a weight loss programme. In educated patients who completed a 1-year follow-up, the weight reduction and metabolic changes were significant, but the analysis was carried out on less than half of the subjects and this very high global dropout rate (51.3%) makes it impossible to draw generalised conclusions.     

The timing of adoption of positron emission tomography: a real options approach

This paper presents the economic evaluation from a hospital’s perspective of the investment in positron emission tomography, adopting a real options approach. The installation of this equipment requires a major capital outlay, while uncertainty on several key variables is substantial. The value of several timing strategies, including sequential investment, is determined taking into account that future decisions will be based on the information available at that time. The results show that adopting this approach may have an impact on the timing of investment, because postponing the investment may be optimal even when the Expected Net Present Value of the project is positive.

Adult human Müller glia cells are a highly efficient source of rod photoreceptors

There is growing evidence that Müller glia cells (MGCs) might act as regenerative elements in injured retinas of fishes and amniotes. However, their differentiation potential in humans is yet unknown. We isolated Müller glia from adult human retinas and propagated them in vitro revealing for the first time their ability to differentiate into rod photoreceptors. These results were also confirmed with mice retinas. Here, we describe conditions by which human MGCs adopt a rod photoreceptor commitment with a surprising efficiency as high as 54%. Functional characterization of Müller glia-derived photoreceptors by patch-clamp recordings revealed that their electrical properties are comparable to those of adult rods. Interestingly, our procedure allowed efficient derivation of MGC cultures starting from both injured and degenerating and postmortem human retinas. Human transplanted Müller glia-derived photoreceptors integrate and survive within immunodeficient mouse retinas. These data provide evidence that Müller glia retains an unpredicted plasticity and multipotent potential into adulthood, and it is therefore a promising source of novel therapeutic applications in retinal repair.