Chromatin Organization in Sperm May Be the Major Functional Consequence of Base Composition Variation in the Human Genome

Chromatin in sperm is different from that in other cells, with most of the genome packaged by protamines not nucleosomes. Nucleosomes are, however, retained at some genomic sites, where they have the potential to transmit paternal epigenetic information. It is not understood how this retention is specified. Here we show that base composition is the major determinant of nucleosome retention in human sperm, predicting retention very well in both genic and non-genic regions of the genome. The retention of nucleosomes at GC-rich sequences with high intrinsic nucleosome affinity accounts for the previously reported retention at transcription start sites and at genes that regulate development. It also means that nucleosomes are retained at the start sites of most housekeeping genes. We also report a striking link between the retention of nucleosomes in sperm and the establishment of DNA methylation-free regions in the early embryo. Taken together, this suggests that paternal nucleosome transmission may facilitate robust gene regulation in the early embryo. We propose that chromatin organization in the male germline, rather than in somatic cells, is the major functional consequence of fine-scale base composition variation in the human genome. The selective pressure driving base composition evolution in mammals could, therefore, be the need to transmit paternal epigenetic information to the zygote

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

The study of Drosophila neurodegenerative mutants combined with genetic and biochemical analyses lead to the identification of multiple complex mutations in 60 patients with a novel form of ataxia/leukoencephalopathy

Are Swiss chiropractors different than other chiropractors? Results of the job analysis survey 2009

OBJECTIVE: With the start of a new chiropractic program in the faculty of medicine, University of Zürich, an in-depth look at chiropractic practice in Switzerland was needed to help direct the undergraduate and postgraduate education. The purposes of this study were (1) to identify specific characteristics of chiropractic practice in Switzerland to ensure that relevant key competencies particular to practice in this country are covered in the undergraduate and postgraduate chiropractic programs and (2) to compare chiropractic practice in Switzerland to other countries who have completed similar surveys. METHODS: Using the National Board of Chiropractic Examiners (United States) job analysis survey as a template and adapting questions from the General Chiropractic Council United Kingdom survey, a Swiss questionnaire was created and tested for face and content validity before being placed online for completion by the 260 members of the Swiss Association for Chiropractors. Participation was voluntary and anonymous. Data were entered into an Excel spreadsheet, and descriptive statistics were calculated. RESULTS: The response rate was 70%. Similarities between Swiss chiropractors and their international counterparts were found in the most common conditions treated, the common etiologies of these conditions, the most common age groups seen, and the most common treatment methods used. Differences were found in the high proportion of patients referred directly to chiropractors from varying medical specialists in Switzerland, the fact that the most common category of patient to be seen by chiropractors in Switzerland is the acute followed by the subacute patient, the much higher requirement for continuing education hours in Switzerland, and the reduced use of diagnostic imaging compared with practitioners from the United States. CONCLUSIONS: Chiropractic practice in Switzerland is a government-recognized medical profession with significant interprofessional referrals resulting in earlier chiropractic treatment for many patients. However, Swiss chiropractic practitioners still retain their professional identity and focus of practic

The treatment of choroidal neovascularisation with intravitreal injections of bevacizumab (Avastin)

BACKGROUND: Although bevacizumab (Avastin) has only been approved for the treatment of colorectal carcinoma, many reports have shown that its intravitreal administration against choroidal neovascularisation (CNV) leads to a stabilisation or even a regression of the pathological neovessels, and thus to a positive evolution of visual acuity. PATIENTS AND METHODS: From April 2006 to July 2007, the CNV of different aetiologies were treated with intravitreal injections of bevacizumab (1.25 mg in 0.05 mL) in 300 patients with an average age of 75, 78 years. Fluorescein angiography and optical coherence tomography were used for the diagnosis and for the checks which were carried out every twelve weeks. The intravitreal injections were performed every six weeks until the macular findings were considered to be dry. The visual acuity was checked using an ETDRS chart. RESULTS: In all the groups considered the visual acuity was stabilised or improved on an average with + 4.44 ETDRS letters after 3.04 injections. During the follow-up six cardiovascular diseases were diagnosed and in one case a patient died. No ocular complications were reported after 1036 injections. CONCLUSIONS: The results clearly show that the intravitreal injections of bevacizumab are effective, safe and cost-effective. However, further randomised studies are needed to confirm the duration of the effect, as well as the good ocular and systemic tolerability of the drug

The treatment of choroidal neovascularizations in age-related macular degeneration using either Avastin or Lucentis

BACKGROUND: Either Avastin or Lucentis was used in our clinic to treat choroidal neovascularizations in age-related macular degeneration. The number of injections necessary for drying the macular findings was especially assessed. PATIENTS AND METHODS: From April 2006 to August 2008 324 eyes were treated with Avastin, and from January 2007 to August 2008 348 eyes were treated with Lucentis. The intravitreal injections with Avastin (1.25 mg in 0.05 mL) were performed every six weeks, and with Lucentis (0.05 mg in 0.05 mL) every four weeks until the macular findings were considered to be dry. Fluorescein angiography and optical coherence tomography were used for the diagnosis and for the checks which were carried out every twelve weeks. The visual acuity was measured with an ETDRS chart. RESULTS: The treatment with Avastin is completed in 319 eyes with an average improvement of the visual acuity of 5.1 letters after 3.3 injections, and with Lucentis in 226 eyes with an average improvement of the visual acuity of 6.4 letters after 3.4 injections (p = 0.24; one way ANOVA). CONCLUSION: Both of the drugs allow the drying of the macular findings in the great majority of the cases after a short time and lead to a quite similar improvement of the visual acuity. A definitive stabilization of the disease after stopping the treatment is not foreseeable

Nutrient intake of Swiss toddlers.

During the first years of life, food preferences are shaped that might last throughout a person's entire life affecting his/her health in the long term. However, knowledge on early feeding habits is still limited for toddlers. Therefore, the goal of the present study was to: (1) assess toddlers' nutrient intake; (2) compare the findings to past studies as well as to national feeding recommendations and (3) identify major food sources for energy and macronutrients. A food survey using a 4-day diary was conducted. The dietary software nut.s <sup>®</sup> was used to analyse the data. A cohort of 188 healthy toddlers (aged 1-3 years) was analysed. The energy intake of most toddlers was below the recommended daily intake (RDI) but in accordance with earlier studies. Protein intake was three- to fourfold higher than the RDI and reached the proposed upper limit of 15% of total energy intake. Fat intake was in accordance with the RDI, but the balance of saturated and unsaturated fatty acids should be improved. Carbohydrate intake met the RDI. For the micronutrients, iron and vitamin D intakes showed critical values. As in other European countries, the diet of Swiss toddlers in general seems adequate but does not meet all nutritional requirements. In particular, the quality of the fats and vitamin D supplementation should be improved. For proteins and iron, additional research is needed to gain more confidence in the recommendations

Clinical performance of a continuous viscometric affinity sensor for glucose

A viscometric affinity sensor has been developed to measure the interstitial glucose concentration continuously. In a pilot clinical study its performance was assessed under conditions close to everyday life. Additionally, different insertion sites were tested for their suitability to apply subcutaneous glucose sensors