Search

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Primary prevention of acute rheumatic fever

Acute rheumatic fever (ARF) is an abnormal immune reaction following Streptococcus pyogenes (Strep A) infection of the throat, and likely the skin. Primary prevention is the prompt and appropriate antibiotic treatment of Strep A infection, and it can reduce the risk of developing ARF and subsequent rheumatic heart disease.

Narrowband UVB phototherapy reduces TNF production by B-cell subsets stimulated via TLR7 from individuals with early multiple sclerosis

At the end of a 60-day course of narrowband UVB phototherapy, administered to individuals with early multiple sclerosis, there were changes in the relative proportions of circulating B-cell subsets. This study investigated phototherapy-associated changes to cytokine responses of B cells when exposed to a TLR7 ligand.

Constitutive Activation of RAS/MAPK Pathway Cooperates with Trisomy 21 and Is Therapeutically Exploitable in Down Syndrome B-cell Leukemia

Children with Down syndrome (constitutive trisomy 21) that develop acute lymphoblastic leukemia (DS-ALL) have a 3-fold increased likelihood of treatment-related mortality coupled with a higher cumulative incidence of relapse, compared with other children with B-cell acute lymphoblastic leukemia (B-ALL).

Antibiotic Allergy Labels in Children Are Associated with Adverse Clinical Outcomes

This is the first study demonstrating the negative impact of antibiotic allergy labels on clinical outcomes in children

Clinical Ecology-Transforming 21st-Century Medicine with Planetary Health in Mind

The grand, interconnected challenges of our time demands that all of medicine be viewed from an ecological perspective

Increased Use of Adrenaline in the Management of Childhood Anaphylaxis Over the Last Decade

There was a significant improvement in the management of anaphylaxis after the introduction of intensified physician training programs

Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) Study

The relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders.

Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs

Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-An aggressive and fatal disease

Our data emphasize the heterogeneity of NMC and highlights genetic aberrations that could be explored to improve therapeutic strategies.