Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding rapidly in parallel with advances in technology, diagnosis, and treatment availability for these conditions. In Hong Kong, NBS for inborn errors of metabolism (NBSIEM) began as a pilot program in October 2015 and was implemented to all birthing hospitals within the public healthcare system in phases, with completion in October 2020.

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

Background: Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive care unit (ICU). This study sought to examine the diagnostic and clinical utility, and the economic impact on clinical management of rWES in patients beyond infancy and ICU setting.

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety-five percent of MFS probands have a mutation in the fibrillin-1 gene (FBN1); however, there are a high number of unique mutations complicating attempts at establishing any phenotype-genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13-21).

Comparing the Quality of Cardiopulmonary Resuscitation Performed at the Over-the-Head Position and Lateral Position of Neonatal Manikin.

Recent neonatal resuscitation guidelines suggest to perform chest compression (CC) at over-the-head (OTH) position instead of lateral position when further interventions including umbilical venous access are needed. Little information is available regarding the quality of cardiopulmonary resuscitation at different positions. Our study compared the quality of CC and ventilation at OTH position vs.

Changes in Mortality and Cerebral Palsy in Extremely Low-Birth-Weight Infants in a Tertiary Center in Hong Kong.

. We retrospectively reviewed a cohort of extremely low-birth-weight (ELBW) babies born at Queen Mary Hospital and explored if there is any time trend in survival and short-term neurodevelopmental outcomes. .

Subthalamic nucleus deep brain stimulation for Parkinson's disease: evidence for effectiveness and limitations from 12 years' experience.

Objective: To present the result and experience of subthalamic nucleus deep brain stimulation for Parkinson's disease.

Design: Case series.

Setting: Prince of Wales Hospital, Hong Kong.

Cost-effectiveness of subthalmic nucleus deep brain stimulation for the treatment of advanced Parkinson disease in Hong Kong: a prospective study.

Background: Deep brain stimulation (DBS) is an effective but costly treatment for patients with advanced Parkinson disease (PD). This study examined the cost-effectiveness of DBS in relation to its improved effectiveness to help funding decision makers decide whether the treatment should be adopted. The incremental cost-effective ratio (ICER) per quality-adjusted life year has been benchmarked as being between US$50,000 and US$100,000 by US agencies, whereas it is less than €30,000 per quality-adjusted life year in Europe.

Single burr hole rigid endoscopic third ventriculostomy and endoscopic tumor biopsy: what is the safe displacement range for the foramen of Monro?

Objective: To investigate the safe displacement range of the foramen of Monro (FM) during single burr hole rigid endoscopic third ventriculostomy (ETV) and endoscopic tumor biopsy (ETB).

Methods: Eleven patients who received ETV/ETB for third ventricular and pineal region tumor were reviewed. The burr-hole location, the size, and the virtual displacement of FM were measured using neuronavigation software.

Long-term cognitive dysfunction in patients with traumatic subarachnoid hemorrhage: prevalence and risk factors.

Background: Cognition had recently been suggested as a supplement to traditional measures of neurological outcome. However, no data were available in the literature on long-term cognitive outcomes in patients with traumatic subarachnoid hemorrhage (tSAH).

Objective: We explored the long-term cognitive profiles of patients with tSAH who had returned to the community, and the risk factors associated with this event.

Natural history and medical treatment of cognitive dysfunction after spontaneous subarachnoid haemorrhage: review of current literature with respect to aneurysm treatment.

Aneurysmal subarachnoid haemorrhage (aSAH) has the highest mortality and morbidity among all types of stroke. Unfortunately, cognitive dysfunction remains a major problem to those who survive the acute crisis. Most studies focused on patients after microsurgical clipping, which turned out to be different from the modern patient cohorts.

Complications of deep brain stimulation: a collective review.

Background: Since the first deep brain stimulation (DBS) performed for movement disorder more than a decade ago, DBS has become a standard operation for advanced Parkinson's disease. Its indications are expanding to areas of dystonia, psychiatric conditions and refractory epilepsy. Additionally, a new set of DBS-related complications have arisen.

Clinical study on cognitive dysfunction after spontaneous subarachnoid haemorrhage: patient profiles and relationship to cholinergic dysfunction.

Purpose: We aimed to explore the cognitive profiles of subarachnoid haemorrhage patients who returned to the community, along with the associated risk factors.

Methods: We recruited 40 Chinese patients with spontaneous subarachnoid haemorrhage 7-27 months after the initial presentation. They had all been discharged to their homes or to care homes for the elderly.

The developmental test of visual perception-2 normative study on the visual-perceptual function for children in Hong Kong.

This research study intended to investigate the visualperceptual performance of children in Hong Kong by comparing them to the accepted norms on the Developmental Test of Visual Perception-2nd edition. The research examined whether there was significant difference in child's gender, age, and grade. The normative study recruited two hundred and eight-nine children between the ages of 6 and 7 in normal primary schools in Hong Kong.

Dynamic influences of culture on cooperation in the prisoner's dilemma.

This study tested whether priming of cultural symbols activates cultural behavioral scripts and thus the corresponding behaviors, and also whether the behaviors activated are context-specific. Specifically, to activate the cultural knowledge of Chinese-American bicultural participants, we primed them with Chinese cultural icons or American cultural icons. In the control condition, we showed them geometric figures.

Predicting intergroup bias: the interactive effects of implicit theory and social identity.

This research sought to integrate the implicit theory approach and the social identity approach to understanding biases in intergroup judgment. The authors hypothesized that a belief in fixed human character would be associated with negative bias and prejudice against a maligned group regardless of the perceiver's social identity. By contrast, a belief in malleable human character would allow the perceiver's social identity to guide intergroup perception, such that a common ingroup identity that includes the maligned group would be associated with less negative bias and prejudice against the maligned group than would an exclusive identity.

How are social identities linked to self-conception and intergroup orientation? The moderating effect of implicit theories.

Social identity approaches assume that social identification affects both self-conception and intergroup orientation. The authors contend that such social identification effects are accentuated when people hold a fixed view of human character and attribute immutable dispositions to social groups. To these individuals, social identities are immutable, concrete entities capable of guiding self-conception and intergroup orientation.