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Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil

Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing... ...

Research

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. ...

Research

Genetic and functional evidence implicating DLL1 as the gene that influences susceptibility

Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified... ...

Research

Evidence of a complex association between dose, pattern and timing of prenatal alcohol exposure and child behaviour problems

There is a lack of evidence regarding the effect of dose, pattern and timing of prenatal alcohol exposure and behaviour problems in children aged 2 years. ...

Research

Clinical predictors of hypoxic pneumonia in children from the Eastern Highlands Province, Papua New Guinea: secondary analysis of two prospective observational studies

Pneumonia is the leading cause of death in young children globally and is prevalent in the Papua New Guinea highlands. We investigated clinical predictors of hypoxic pneumonia to inform local treatment guidelines in this resource-limited setting. ...

Research

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

Research

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

Research

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Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Genetic and functional evidence implicating DLL1 as the gene that influences susceptibility

Evidence of a complex association between dose, pattern and timing of prenatal alcohol exposure and child behaviour problems

Clinical predictors of hypoxic pneumonia in children from the Eastern Highlands Province, Papua New Guinea: secondary analysis of two prospective observational studies

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

Choice making in Rett syndrome: a descriptive study using video data