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Reports and Findings

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs

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

Long-term medical and psychosocial outcomes in congenital diaphragmatic hernia survivors

Survivors of CDH may have significant adverse long-term medical and psychosocial issues that would be better recognised and managed in a multidisciplinary clinic

Risk of newly detected infections and cervical abnormalities in adult women seropositive or seronegative for naturally acquired HPV-16/18 antibodies

Naturally acquired anti-HPV-16 antibodies were associated with a decreased risk of subsequent infection and cervical abnormalities in women >25 years

Could home-based FeNO measurements breathe new life into asthma management?

Developing a FeNO test that is affordable enough to allow daily measurements, patients will be able to access quantifiable data to assist them to monitor their asthma

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

Innate immune activation occurs in acute food protein–induced enterocolitis syndrome reactions

Food reactions in food protein–induced enterocolitis syndrome are predominantly underpinned by activation of the innate immune system

Preterm birth: Born too soon for the developing airway epithelium

This review examines the consequences of preterm birth on the airway epithelium and explores the clinical relevance of currently available models

Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetes

HLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group