Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.

We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.Global developmental delay is a common presentation to general paediatric and community paediatric clinics.

Telehealth application in Sudan: requirements and potential benefits.

Telehealth (TH) is defined as the entire spectrum of activities used to deliver care remotely. It could either be provider-to-patient or provider-to-provider communications. TH can take place synchronously (via telephone and video), asynchronously (via patient portal messages, e-consults), and through virtual agents (chat) and wearable devices.

Virtual clinics progress and outcome during the Covid-19 pandemic.

Aim: To assess progress and outcome of the Virtual clinics during the Covid-19 Pandemic.

Methods: We used Excel sheet to collect and anlyse data including number of call attempts for answer, duration of the calls, success in talking to the carers and the outcome of consulttion.

Results: One-hundred-sixty-seven calls were made for 117 patients.

Towards safe and effective transition from adolescence to adult care.

Transitional care is an important step in patients' care. This article aims to give some guidance towards a safe and smooth transition from adolescence to adult care. It highlights the definition, elements, steps, effects and benefits of an effective transition system.

Blood tests are not always helpful in predicting bacterial meningitis in children.

Bacterial meningitis is characterized by inflammation of the meninges covering the brain. It is a life-threatening illness, if untreated. The aim of this study was to examine whether blood tests including C-reactive protein (CRP) and full blood count (FBC) predict bacterial meningitis in children.

Approach to a child with recurrent pneumonia.

Pneumonia, or inflammation of the lungs parenchyma associated with consolidation of alveolar spaces, is a substantial cause of morbidity and mortality in childhood particularly among children below 5 years of age. It is one of the common causes of admission to the paediatric ward. The aim of this article is to provide a guide to a systemic approach for diagnosis and treatment of children with recurrent pneumonia while not over investigating those with common but usually unrecognised conditions such as asthma or recurrent simple viral infections.