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Research

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.

Research

A screening tool to identify risk for bronchiectasis progression in children with cystic fibrosis

The marked heterogeneity in cystic fibrosis (CF) disease complicates the selection of those most likely to benefit from existing or emergent treatments. We aimed to predict the progression of bronchiectasis in preschool children with CF.

News & Events

Meet Mike

Meet Professor Mike Riddell. Mike is the co-founder of the Physical Activity and Diabetes Unit at York University in Toronto recently visited Perth to share his research on exercise and type 1 diabetes at the Children’s Diabetes Centre Community Forum.

News & Events

Do you need more insulin for the protein and fat in your meal?

Current Type 1 Diabetes management guidelines recommend adjusting insulin doses for food based on the amount of carbohydrate eaten at each meal.

Research

Clinical predictors of severe dengue: a systematic review and meta-analysis

Severe dengue is a life-threatening complication; rapid identification of these cases, followed by adequate management is crucial to improve the clinical prognosis. Therefore, this study aimed to identify risk factors and predictors of severe dengue.

Research

The COVID-19 vaccination campaign in Bhutan: strategy and enablers

Bhutan has reported a total of 2596 COVID-19 cases and three deaths as of September 15, 2021. With support from India, the United States, Denmark, the People’s Republic of China, Croatia and other countries, Bhutan was able to conduct two rounds of nationwide vaccination campaign.

Research

Evaluation of focus and deep learning methods for automated image grading and factors influencing image quality in adaptive optics ophthalmoscopy

Adaptive optics flood illumination ophthalmoscopy (AO-FIO) is an established imaging tool in the investigation of retinal diseases. However, the clinical interpretation of AO-FIO images can be challenging due to varied image quality. Therefore, image quality assessment is essential before interpretation.

Research

A call for global action for rare diseases in Africa

The outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health

Research

Assessment and management of hypoglycemia in children and adolescents with diabetes

This paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.