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Showing results for "Neuromuscular disorders "

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

We report on the prevalence and trends of hypospadias which indicate that the prevalence of hypospadias continues to increase internationally

Season, terrestrial ultraviolet radiation, and markers of glucose metabolism in children living in Perth, Western Australia

Increased safe sun exposure in winter therefore represents a plausible means of reducing fasting blood sugar in children with obesity

Systematic Review of the Effects of Ultraviolet Radiation on Markers of Metabolic Dysfunction

Here we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Parental experiences using the Therapy Outcomes by You (TOBY) application to deliver early intervention to their child with autism

Parental experience of TOBY was positive when use of the application aligned with parental proficiency, opportunities for use, and importantly, the needs of the child

A Comparison of the Motor Skills of Young People in a Youth Detention Centre with Diagnosed Fetal Alcohol Spectrum Disorder and Prenatal Alcohol Exposure

Visual motor integration and handwriting skills were often impaired in this population of young people in a youth detention centre

Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes

This study aims to review temporal changes in perinatal management and 1-year survival outcomes of cases of congenital diaphragmatic hernia

Using acute tryptophan depletion to investigate predictors of treatment response in adolescents with major depressive disorder

The major hypothesis of this study is that acute tryptophan depletion will be negatively associated with mood and cognitive functioning

Effects of Dietary Acute Tryptophan Depletion (ATD) on NPY Serum Levels in Healthy Adult Humans Whilst Controlling for Methionine Supply-A Pilot Study

Acute tryptophan depletion, and therefore, diminished substrate availability for brain 5-HT synthesis did not lead to significant changes in serum neuropeptide Y concentrations over time

The potential of antisense oligonucleotide therapies for inherited childhood lung diseases

Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design.