A Mammalian Conserved Element Derived from SINE Displays Enhancer Properties Recapitulating Satb2 Expression in Early-Born Callosal Projection Neurons

Short interspersed repetitive elements (SINEs) are highly repeated sequences that account for a significant proportion of many eukaryotic genomes and are usually considered “junk DNA”. However, we previously discovered that many AmnSINE1 loci are evolutionarily conserved across mammalian genomes, suggesting that they may have acquired significant functions involved in controlling mammalian-specific traits. Notably, we identified the AS021 SINE locus, located 390 kbp upstream of Satb2. Using transgenic mice, we showed that this SINE displays specific enhancer activity in the developing cerebral cortex. The transcription factor Satb2 is expressed by cortical neurons extending axons through the corpus callosum and is a determinant of callosal versus subcortical projection. Mouse mutants reveal a crucial function for Sabt2 in corpus callosum formation. In this study, we compared the enhancer activity of the AS021 locus with Satb2 expression during telencephalic development in the mouse. First, we showed that the AS021 enhancer is specifically activated in early-born Satb2+ neurons. Second, we demonstrated that the activity of the AS021 enhancer recapitulates the expression of Satb2 at later embryonic and postnatal stages in deep-layer but not superficial-layer neurons, suggesting the possibility that the expression of Satb2 in these two subpopulations of cortical neurons is under genetically distinct transcriptional control. Third, we showed that the AS021 enhancer is activated in neurons projecting through the corpus callosum, as described for Satb2+ neurons. Notably, AS021 drives specific expression in axons crossing through the ventral (TAG1−/NPY+) portion of the corpus callosum, confirming that it is active in a subpopulation of callosal neurons. These data suggest that exaptation of the AS021 SINE locus might be involved in enhancement of Satb2 expression, leading to the establishment of interhemispheric communication via the corpus callosum, a eutherian-specific brain structure

Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas

Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic competence. Multiple cutaneous and uterine leiomyomatosis syndrome is a rare autosomal dominant disorder caused by the mutations of the fumarate hydratase gene, demonstrated in 80 to 100 percent of affected individuals. This can be linked to an increased risk of renal cancer in both sexes. The skin involvement is described to highlight the diagnostic role of the cutaneous counterpart in identifying this rare syndrome

Experiences of healing therapy in patients with irritable bowel syndrome and inflammatory bowel disease.

BACKGROUND The use and value of different complementary therapies requires investigation. In particular, qualitative research is required to understand the perceptions and experiences of patients who undergo healing therapy as one type of complementary therapy. The aim of this research is to consider patients perceptions and experiences following a course of healing therapy. METHODS Twenty two patients took part in this study. This included 13 patients with irritable bowel disease (3 male, 10 female, 47.6 ± 15.0 years), 6 patients with ulcerative colitis (3 male, 3 female, 48.5 ± 25.6 years) and 3 female patients with Crohn's Disease (45.0 ± 5.2 years). Each patient undertook a single semi-structured interview following a course of healing therapy. The data was analysed using a thematic analysis. RESULTS Three broad themes were identified from patient interviews (1) The understanding and expectation of healing (2) Experiences and reflection on healing (3) Impact and outcome of healing. The details of each theme are explored within the text, often revealing a unique experience of healing therapy. CONCLUSION Patients were open towards the benefits that could be attained by healing, although most patients were not sure what healing would entail. Some patients expected to be relaxed by the sessions. However, the most consistent reports were that patients experienced a relaxing sensation that was generated within the session and lasted for a time period after the sessions. In addition to this the healing appeared to be associated with patients feeling more tolerant of their symptoms. Patients valued the therapist and their input into the healing process. It should be noted however, that this report cannot consider the efficacy of the treatment. Further details and experiences are considered within the article, including one negative experience