A case of familial isolated hemihyperplasia

BACKGROUND: Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedemann syndrome (BWS). Isolated hemihyperplasia is usually sporadic, but a number of familial occurrences have been described. CASE PRESENTATION: We describe a Tunisian family in which three maternal cousins and their maternal grandfather present with isolated hemihyperplasia. CONCLUSIONS: The etiology of isolated hemihyperplasia is unknown although in BWS, genomic imprinting has been shown to play a role in the asymmetric overgrowth. Given the similarity between these two conditions, it is possible that both may share a common pathogenesis. We also discuss the possible genetic mechanisms leading to the production of hemihyperplasia in this family

Genomic imprinting and assisted reproduction

Imprinted genes exhibit a parent-of-origin specific pattern of expression. Such genes have been shown to be targets of molecular defects in particular genetic syndromes such as Beckwith-Wiedemann and Angelman syndromes. Recent reports have raised concern about the possibility that assisted reproduction techniques, such as in vitro fertilization or intracytoplasmic sperm injection, might cause genomic imprinting disorders. The number of reported cases of those disorders is still too small to draw firm conclusions and the safety of these widely used assisted reproduction techniques needs to be further evaluated

Paternal effects on early embryogenesis

Historically, less attention has been paid to paternal effects on early embryogenesis than maternal effects. However, it is now apparent that certain male factor infertility phenotypes are associated with increased DNA fragmentation and/or chromosome aneuploidies that may compromise early embryonic development. In addition, there is a growing body of evidence that the fertilizing sperm has more function than just carrying an intact, haploid genome. The paternally inherited centrosome is essential for normal fertilization, and the success of higher order chromatin packaging may impact embryogenesis. Epigenetic modifications of sperm chromatin may contribute to the reprogramming of the genome, and sperm delivered mRNA has also been hythesized to be necessary for embryogenesis. There is less information about the epigenetic factors affecting embryogenesis than genetic factors, but the epigenetics of gamete and early embryogenesis is a rapidly advancing field

Measurement of the mass difference m(D-s(+))-m(D+) at CDF II

We present a measurement of the mass difference m(D-s(+))-m(D+), where both the D-s(+) and D+ are reconstructed in the phipi(+) decay channel. This measurement uses 11.6 pb(-1) of data collected by CDF II using the new displaced-track trigger. The mass difference is found to be m(D-s(+))-m(D+)=99.41+/-0.38(stat)+/-0.21(syst) MeV/c(2)

Epithelial cancers in the post-genomic era: should we reconsider our lifestyle?

The age-related epithelial cancers of the breast, colorectum and prostate are the most prevalent and are increasing in our aging populations. Epithelial cells turnover rapidly and mutations naturally accumulate throughout life. Most epithelial cancers arise from this normal mutation rate. All elderly individuals will harbour many cells with the requisite mutations and most will develop occult neoplastic lesions. Although essential for initiation, these mutations are not sufficient for the progression of cancer to a life-threatening disease. This progression appears to be dependent on context: the tissue ecosystem within individuals and lifestyle exposures across populations of individuals. Together, this implies that the seeds may be plentiful but they only germinate in the right soil. The incidence of these cancers is much lower in Eastern countries but is increasing with Westernisation and increases more acutely in migrants to the West. A Western lifestyle is strongly associated with perturbed metabolism, as evidenced by the epidemics of obesity and diabetes: this may also provide the setting enabling the progression of epithelial cancers. Epidemiology has indicated that metabolic biomarkers are prospectively associated with cancer incidence and prognosis. Furthermore, within cancer research, there has been a rediscovery that a switch in cell metabolism is critical for cancer progression but this is set within the metabolic status of the host. The seed may only germinate if the soil is fertile. This perspective brings together the different avenues of investigation implicating the role that metabolism may play within the context of post-genomic concepts of cancer

NY1DD SCD mice displayed increased numbers of fibrocytes in their bone marrow, circulation, and lungs under baseline conditions.

<p>A–C) demonstrates that fibrocytes are elevated in the bone marrow, circulation, and lungs of NY1DD SCD mice, as compared to strain and age-matched control mice. In addition, A–C) demonstrates that fibrocytes in the bone marrow, circulation, and lungs of NY1DD mice, as compared to strain and age-matched mice express a chemokine receptor hierarchy (i.e., CXCR4+≫CCR2+>CCR7+). D–F) demonstrates that elevated fibrocytes in the bone marrow, circulation, and lungs of NY1DD mice, as compared to appropriate strain and age-match mice express pro-collagens I and III (pro-collagen type I N and C-terminus = PINP and PICP, respectively; pro-collagen type III C-terminus = PIIICP). G–I) NY1DD SCD mice displayed increased numbers of fibrocytes (CD45+Col1+ cells) in their bone marrow, circulation, and lungs under baseline conditions that represent an activated phenotype (αSMA+ cells) compared to appropriate strain and age-match mice. N = six mice in each group. * p<0.05.</p

Fibrocytes are markedly elevated and activated in the circulation of patients with SCD at baseline compared to healthy African American controls.

<p>A) fibrocytes defined as CD45+Col1+ cells were elevated in number in the circulation of patients with SCD, as compared to control subjects. B–D) demonstrates that fibrocytes in the circulation of patients with SCD, as compared to control subjects express a chemokine receptor hierarchy (i.e., CXCR4+>CCR2+>CCR7+). E–F) demonstrates that fibrocytes in the circulation of patients with SCD, as compared to control subjects represent an activated phenotype of αSMA+ and pSmad2/3+ cells, respectively, compatible with fibrocytes pre-systemically activated by TGF-b.</p