An Investigation into a Reading Intervention Modeled After Reading Recovery

How does Reading Recovery program effect the ability and attitudes of the participating students? In this explanatory study, eight students, participating in an intervention program modeled after Reading Recovery, were examined based on skills and attitudes. All but one student showed marked improvement in attitude toward reading and writing by the end of the study. All students showed some growth in skill level, as well the study was limited in scope as well as in implementation of the Reading Recovery Program. On an individual level, Reading Recovery was successful in improving both skill and attitude of students in need of intervention

Die Flüssigkeits- und Energieaufnahme durch Getränke und ihre Schwankungen während des Menstruationszykluses von in Österreich lebenden, jungen Frauen

Östrogene und Gestagene kontrollieren neben der Fortpflanzungsfunktion auch Nahrungs- und Flüssigkeitsaufnahme. Um herauszufinden, wie sich die Trinkgewohnheiten während des Menstruationszykluses verändern, führten 43 in Österreich lebende Frauen im Frühjahr 2011 einen Zyklus lang täglich ein Trinkprotokoll. Zusätzlich füllten sie einen Fragebogen aus und ließen ihre Körperzusammensetzung messen. Die Frauen waren durchschnittlich 23,93 Jahre alt (STD=3,76; Range=[18; 37]), kinderlos und größtenteils Studentinnen. Von den ursprünglich 43 Frauen führten 42 Frauen das Protokoll zu Ende, 40 gingen in die Berechnung ein. Zehn Frauen nahmen zum Zeitpunkt der Studie hormonelle Verhütungsmittel ein. Die Trinkprotokolle wurden hinsichtlich der konsumierten Menge, Energie, Zucker, Fett, Proteine, Koffein und Alkohol mittels einer eigens erstellten Datenbank ausgewertet, die über 600 Getränke mit ihren Nährwertinformationen enthält. Es stellte sich heraus, dass sich die Einnahme von hormonellen Verhütungsmitteln auf die Flüssigkeitsmenge sowie auf die Inhaltstoffe der Getränke auswirkt. Zykluseigenschaften, wie Regelmäßigkeit und Beschwerden während der Menstruation, haben ebenfalls einen Einfluss auf die Auswahl und die Menge der Getränke, besonders im Hinblick auf Alkohol. Neben den hormonell bedingten Einflussgrößen verändern auch die Auswahl von Nahrungsmitteln und der Fett- sowie der Muskelanteil und der Lebensstil das Trinkverhalten. Auch zwischen den Phasen des Menstruationszykluses ergeben sich signifikante Unterschiede. Es zeigte sich, dass die Flüssigkeitsaufnahme, sowie die Energie-, Zucker- und Proteinaufnahme in den Phasen mit hoher Östrogenkonzentration unterdrückt werden. Mit hormonellen Verhütungsmitteln auf der anderen Seite wird zwar die Flüssigkeitsaufnahme gedrosselt, die Energieaufnahme allerdings gesteigert. Dies ist ein starker Anhaltspunkt dafür, dass Getränke in Zeiten langer Kalorienrestriktion als alternative Energiequelle verwendet werden können.Estrogen and progesterone, both hormones of the menstrual cycle, not only regulate reproduction but influence other bodily functions too. In order to clarify the changes in beverage intake during the menstrual cycle 43 young women wrote a daily drinking journal during one cycle in spring 2011, which was analyzed with a specially designed database containing over 600 beverages and their nutritional information. Additional information of the women was gathered in a questionnaire and by scaling their body composition. 42 women completed the task. Two of them had to be excluded due to exceptionally long cycles. The average age of the women was 23,93 years (STD=3,76; Range=[18; 37]). Ten women used oral contraceptives. They were all living in Austria, were childless and mostly college students. Using t- and u-tests differences between the phases of the menstrual cycle and between groups were detected. A strong influence on both quantity and energy contained in beverages happens to be oral contraception. The high amount of estrogen seems to suppress the quantity of consumed beverages and increase the energy contained in the beverages. Other influential factors are cycle characteristics, such as regularity and dismenorhoe, body composition, age, dietary choices and lifestyle. Significant differences between phases can be seen in the quantity of fluids, sugar, proteins and overall energy intake. They are suppressed during ovulation and luteal phase. These results indicate that drinking not only has a task in fluid balance, but also function as an alternative energy source and could have a comforting effect

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.

BACKGROUND: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor neuropathies. While the molecular basis of hereditary peripheral neuropathies has been extensively researched, interventional trials of pharmacological therapies are lacking. OBJECTIVE: We collated evidence for the effectiveness of pharmacological and gene-based treatments for hereditary peripheral neuropathies. METHODS: We searched several databases for randomised controlled trials (RCT), observational studies and case reports of therapies in hereditary peripheral neuropathies. Two investigators extracted and analysed the data independently, assessing study quality using the Oxford Centre for Evidence Based Medicine 2011 Levels of Evidence in conjunction with the Jadad scale. RESULTS: Of the 2046 studies initially identified, 119 trials met our inclusion criteria, of which only 34 were carried over into our final analysis. Ascorbic acid was shown to have no therapeutic benefit in CMT1A, while a combination of baclofen, naltrexone and sorbitol (PXT3003) demonstrated some efficacy, but phase III data are incomplete. In TTR-related amyloid polyneuropathy tafamidis, patisiran, inotersen and revusiran showed significant benefit in high quality RCTs. Smaller studies showed the efficacy of L-serine for SPTLC1-related hereditary sensory neuropathy, riboflavin for Brown-Vialetto-Van Laere syndrome (SLC52A2/3) and phytanic acid-poor diet in Refsum disease (PHYH). CONCLUSIONS: The 'treatable' variants highlighted in this project will be flagged in the treatabolome database to alert clinicians at the time of the diagnosis and enable timely treatment of patients with hereditary peripheral neuropathies

Impact of Short-Term Isoflavone Intervention in Polycystic Ovary Syndrome (PCOS) Patients on Microbiota Composition and Metagenomics

Background: Polycystic ovary syndrome (PCOS) affects 5–20% of women of reproductive age worldwide and is associated with disorders of glucose metabolism. Hormone and metabolic signaling may be influenced by phytoestrogens, such as isoflavones. Their endocrine effects may modify symptom penetrance in PCOS. Equol is one of the most active isoflavone metabolites, produced by intestinal bacteria, and acts as a selective estrogen receptor modulator. Method: In this interventional study of clinical and biochemical characterization, urine isoflavone levels were measured in PCOS and control women before and three days after a defined isoflavone intervention via soy milk. In this interventional study, bacterial equol production was evaluated using the log(equol: daidzein ratio) and microbiome, metabolic, and predicted metagenome analyses were performed. Results: After isoflavone intervention, predicted stool metagenomic pathways, microbial alpha diversity, and glucose homeostasis in PCOS improved resembling the profile of the control group at baseline. In the whole cohort, larger equol production was associated with lower androgen as well as fertility markers. Conclusion: The dynamics in our metabolic, microbiome, and predicted metagenomic profiles underline the importance of external phytohormones on PCOS characteristics and a potential therapeutic approach or prebiotic in the future

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after filtering the hundreds of variants on WES from an individual's DNA selected by the phenotype. We investigated a patient with a slowly progressive chronic axonal distal motor neuropathy and extrapyramidal syndrome using WES, in whom common genetic mutations had been excluded. Variant filtering identified potentially deleterious mutations in three known disease genes: DCTN1, KIF5A and NEFH, which have been all associated with similar clinical presentations of amyotrophic lateral sclerosis, Parkinsonism and/or hereditary spastic paraplegia. Predicting the functional effect of the mutations were analysed in parallel with detailed clinical investigations. This case highlights the difficulties and pitfalls of applying WES in patients with complex neurological diseases and serves as an instructive tale

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.

Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key to treatments of potential broader relevance. Modification of mt-tRNA(Glu) is a possible functional link between these two conditions, since TRMU is responsible for 2-thiouridylation of mt-tRNA(Glu), mt-tRNA(Lys) and mt-tRNA(Gln). Here we show that down-regulation of TRMU in RIRCD impairs 2-thiouridylation and exacerbates the effect of the mt-tRNA(Glu) mutation by triggering a mitochondrial translation defect in vitro. Skeletal muscle of RIRCD patients in the symptomatic phase showed significantly reduced 2-thiouridylation. Supplementation with l-cysteine, which is required for optimal TRMU function, rescued respiratory chain enzyme activities in human cell lines of patients with RIRCD as well as deficient TRMU. Our results show that l-cysteine supplementation is a potential treatment for RIRCD and for TRMU deficiency, and is likely to have broader application for the growing group of intra-mitochondrial translation disorders