Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Objective: To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS).

Methods: All patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn from our Epilepsy Genetics research program, together with 10 etiologically solved patients referred by collaborators in the Expanded cohort (n = 101). Detailed phenotyping and analysis of molecular genetic results were performed.

Importance of parental involvement in paediatric palliative care in Hong Kong: qualitative case study.

Objective: To compare and contrast the perceived care needs of children with life-limiting conditions (CLLC) from the perspectives of the children, parents and healthcare providers.

Design: A qualitative case study method using semistructured interviews was employed with a within-case and across-case analysis. Themes and subthemes emerging from the cases were compared and contrasted in the across-case analysis to explore the similarities and variations in participant perceptions.

Prevalence and predictors of depressive symptoms among caregivers of patients with epilepsy in Hong Kong.

Study Aim: To estimate the prevalence of high caregiving burden and depressive symptoms among caregivers (CG) of patients with epilepsy (PWEs) in Hong Kong and identify risk and protective factors for both outcomes after the Model of Stress and Carer Burden (MSCB).

Methods: This cross-sectional study recruited participants from local epilepsy clinics to complete a 15-minute survey on a tablet. Caregiving burden (CB) was assessed using the 4-item Zarit Caregiver Burden Interview.

Assessment and Treatment Strategies for the Aesthetic Improvement of the Lower Face and Neck.

Background: Interest in aesthetic rejuvenation of the lower face and neck is growing, but published expert guidance is limited.

Objective: Review aesthetic concerns of the lower face and neck and provide expert guidance on evaluation and treatment.

Methods: Twelve international experts participated in an advisory board on lower face and neck aesthetic treatment.

Improved Patient Satisfaction With Skin After Treatment of Cheek Skin Roughness and Fine Lines With VYC-12L: Participant-Reported Outcomes From a Prospective, Randomized Study.

Background: VYC-12L is a hyaluronic acid filler to improve skin quality. A prospective study showed safety and effectiveness of VYC-12L for improving cheek skin smoothness and fine lines.

Objectives: To report participant-reported outcomes, subgroup analyses, and physician experience from the prospective study.

Prevalence and management of chronic nonmalignant pain in palliative care populations: A systematic review.

Objectives: To investigate the prevalence and current approaches to clinical management of chronic nonmalignant pain in patients referred to palliative care services.

Methods: A systematic review was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and registered with PROSPERO (CRD42021205432). Six databases were searched on 25 August 2020 and again on 11 July 2022: PubMed and Ovid MEDLINE, Elsevier Scopus, PsychINFO, the Cochrane Library, and CINAHL.

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).

Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.

Background: Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of life (HRQOL) is not systematically documented in the literature, and there is no existing tool for such purposes. We designed our own tool for scoring of symptom burden amongst CNDCs and adopted the PedsQL generic score 4.

Guillain-Barré syndrome in children - High occurrence of Miller Fisher syndrome in East Asian region.

Background: Guillain-Barré syndrome (GBS) is a rare acquired immune-mediated polyneuropathy. Updated population-based data concerning paediatric GBS is needed.

Methods: Paediatric patients aged below 18 years diagnosed with GBS between 2009 and 2018 in all 11 paediatric departments in Hong Kong were identified from the Hong Kong Hospital Authority Clinical Data Analysis and Reporting System.

Clinical Spectrum and Burden of Influenza-Associated Neurological Complications in Hospitalised Paediatric Patients.

Background: Influenza is one of the most common causes of acute respiratory tract infections around the world. Influenza viruses can cause seasonal epidemics. There remains limited information on the impact of both seasonal influenza A and influenza B related hospitalisations from neurological complications in paediatric populations in Asia.

Best Clinical Practices with ATX-101 for Submental Fat Reduction: Patient-related Factors and Physician Considerations.

Background: Submental fat can be reduced with ATX-101 (deoxycholic acid injection), a customizable and minimally invasive alternative to liposuction. In the years since its approval, the treatment patterns of ATX-101 have evolved.

Methods: A panel of experienced physicians from the United States gathered to generate best practices for the use of ATX-101 in submental contouring.

Skin Tightening With Hyperdilute CaHA: Dilution Practices and Practical Guidance for Clinical Practice.

Background: Over the past several years, hyperdilute calcium hydroxylapatite (CaHA) has emerged as an effective modality for improving skin quality and managing laxity in the face, arms, hands, neck, décolletage, upper arms, abdomen, buttocks, and upper legs, as well as for treating cellulite and striae. Whereas undiluted CaHA is used to provide volume, hyperdilute CaHA is distributed across a much larger surface area in a more superficial plane to stimulate neocollagenesis and elastin formation over time. The absence of lymphocytic infiltrates and predominance of type 1 collagen in the tissue response to CaHA make hyperdilute CaHA a valuable tool for nonsurgical skin tightening.

Prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014-2018.

Background: There has been increasing attention focused on the epidemiology of rare diseases (RDs) in recent years. Rare neurological diseases (RNDs) constitute a significant proportion of RDs; however, relevant research is still lacking.

Methods: A list of ICD-10 codes corresponding to RNDs was compiled using adaptations from the Orphanet Classification of Rare Diseases, and classified into rare epilepsy, movement-related, neurocutaneous, neuroimmune, neurometabolic and neurodegenerative, neuromuscular and other RNDs.

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Background: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole-exome sequencing (WES) is introducing rapid changes on the genetic diagnosis of NMDs. We aimed to investigate the diagnostic value of WES for pediatric-onset NMDs.

Understanding the Female Asian American Facial Aesthetic Patient.

Background: As facial aesthetic procedures have become more widely accepted, the racial and ethnic diversity of aesthetic patient populations has increased. Asian Americans represent a growing segment of this population and have specific aesthetic concerns that should be differentiated from the broader Caucasian population. Objective: An online study was designed to survey facial aesthetic concerns, treatment priorities, and future treatment considerations among a US-based population of Asian American women.

A fatal case of -associated primary coenzyme Q deficiency.

Background: Primary coenzyme Q (CoQ) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ biosynthesis pathway. -associated CoQ deficiency is very rare and only two cases have been reported.

Methods And Results: We report a patient with encephalo-myo-nephro-cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death.

Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets.

Background: The burden of rare diseases is important for healthcare planning but difficult to estimate. This has been facilitated by the development of ORPHAcodes, a comprehensive classification and coding system for rare diseases developed by the international consortium Orphanet, with cross-references to the 10th version of the International Classification of Diseases and Related Health Problems (ICD-10). A recent study in Western Australia made use of this cross-referencing to identify rare diseases-related admissions in health administrative datasets.

Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation.

The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1.

Future Directions for Hypothermia following Severe Traumatic Brian Injury.

Traumatic brain injury (TBI) is a serious health care problem on both individual and public health levels. As a major cause of death and disability in the United States, it is associated with a significant economic and public health burden. Although the evidence to support the use of induced hypothermia on neurologic outcome after cardiac arrest is well established, its use in treating TBI remains controversial.

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving .

Background: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD.

A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.

De novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13).

Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome.

Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing.

Lip Injection Techniques Using Small-Particle Hyaluronic Acid Dermal Filler.

The shape and fullness of the lips have a significant role in facial aesthetics and outward appearance. The corrective needs of a patient can range from a subtle enhancement to a complete recontouring including correction of perioral rhytides. A comprehensive understanding of the lower face anatomical features and injection site techniques are foundational information for injectors.

Extracellular Matrix Modulation: Optimizing Skin Care and Rejuvenation Procedures.

Normal aging and photoaging of the skin are chronic processes that progress gradually. The extracellular matrix (ECM), constituting over 70% of the skin, is the central hub for repair and regeneration of the skin. As such, the ECM is the area where changes related to photodamage are most evident.

Diffuse and focal corticospinal tract disease and its impact on patient disability in multiple sclerosis.

Background And Purpose: We investigated the impact of focal and diffuse corticospinal tracts damage on sensory-motor disability in multiple sclerosis (MS) patients.

Methods: Twenty-five MS patients underwent 3.0 Tesla (3T) magnetic resonance imaging with diffusion tensor imaging (DTI).