The role of the gut-microbiome-brain axis in metabolic remodeling amongst children with cerebral palsy and epilepsy.

Background: Epilepsy-associated dysbiosis in gut microbiota has been previously described, but the mechanistic roles of the gut microbiome in epileptogenesis among children with cerebral palsy (CP) have yet to be illustrated.

Methods: Using shotgun metagenomic sequencing coupled with untargeted metabolomics analysis, this observational study compared the gut microbiome and metabolome of eight children with non-epileptic cerebral palsy (NECP) to those of 13 children with cerebral palsy with epilepsy (CPE). Among children with CPE, 8 had drug-sensitive epilepsy (DSE) and five had drug-resistant epilepsy (DRE).

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.

We report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG with frequent high-voltage bifrontotemporal sharp and slow waves, especially during sleep. Seizures were difficult to control, despite the usage of various antiepileptic drugs.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) disease phenotypes.

Evidence for Cerebral Embolic Prevention in Transcatheter Aortic Valve Implantation and Thoracic Endovascular Aortic Repair.

Background: Embolic stroke is a formidable complication of transcatheter aortic valve implantation (TAVI) and thoracic endovascular aortic repair (TEVAR). Mechanical strategies to reduce the risk of ischemic embolic lesions include embolic protection devices (EPDs) and carbon dioxide flushing (CDF). This study aims to assess the efficacy for EPD and CDF uses in TAVI and TEVAR.

A Cross Sectional Study on Knowledge, Attitude and Practice related to Human Papillomavirus Vaccination for Cervical Cancer Prevention between Medical and Non-Medical Students in Hong Kong.

Background: One of the most important aetiologies of cervical cancer is Human Papillomavirus (HPV) infection. While vaccination is an effective way in preventing high risk HPV infection, HPV vaccine uptake rate in Hong Kong has been low. Considering the proven effectiveness of HPV vaccination and the low vaccination uptake rate in Hong Kong, this study was conducted to compare the knowledge, attitude and practice towards HPV vaccination for cervical cancer prevention between medical and non-medical students in the University of Hong Kong.

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy.

Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.

We report a series of four patients with macrocephaly-capillary malformation (M-CM) who are the first ever reported M-CM patients among Chinese individuals. The salient clinical features and recent diagnostic criteria are discussed. M-CM is a multisystem disease characterized by macrocephaly and cutaneous vascular malformation.

Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure.

We report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests were also negative.

Risk of vitamin A toxicity from candy-like chewable vitamin supplements for children.

Numerous vitamin supplements are available over-the-counter to the general public. Some such supplements are available as candy-like chewable preparations to encourage consumption by children. We report 3 cases of overdose of such preparations.

Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.

Two siblings from a Hong Kong Chinese family are diagnosed to have heterozygous mutation in tyrosine hydroxylase gene-a novel mutation R169X and the common Dutch mutation R233H. Presented with developmental delay and dystonia before 6 months of age, both had hyperprolactinemia with persistent galactorrhea present in the elder brother since birth. Serum prolactin level is a good screening test for those suspected of underlying neurotransmitter diseases.