A girl with atypical chronic inflammatory demyelinating polyneuropathy

Posters: no. P13Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic, acquired immune and inflammatory disorder that targets the peripheral nerves. The cardinal features include a progressive or a relapsing-remitting course, predominant motor symptoms and signs, symmetrical involvement of arms and legs, proximal muscles involvement along with distal muscles, and decrease or absence of deep tendon reflexes. The diagnosis is confirmed by cerebrospinal fluid (CSF) protein elevation without pleocytosis, and nerve conduction evidence of a primary demyelinating polyneuropathy. A 17-year-old girl was admitted with increase in falling and progressive difficulty in raising arms for 6 months. The weakness had a waxing and waning course for the past few months. One month before admission, she noticed diurnal variation of weakness with most severe weakness in the morning that usually got better in the afternoon. She complained of frequent shoulder pain, fluctuating limb weakness and chronic fatigability. Examination showed multiple sites of tenderness, neck and shoulder stiffness and fatigability. Rapid fluctuation of muscle weakness within the same day or within 1 to 2 days were observed. She was initially suspected to have fibromyalgia and she had slightly elevated erythrocyte sedimentation rate and positive for anti-dsDNA. Subsequent nerve conduction study confirmed demyelinating sensorimotor polyneuropathy with sparing of sural nerves. Lumbar puncture showed raised protein level and protein-cytological dissociation. MRI spine demonstrated gadolinium contrast enhanced nerve roots at the cauda equina. Chronic inflammatory demyelinating polyneuropathy was diagnosed. She was started on intravenous immunoglobulin with rapid clinical improvement. Our patient demonstrated a close relationship between fibromyalgia and CIDP. The predominant presentation of fibromyalgia highlighting that neuropathic nature of pain and morning stiffness can be the atypical presentation at some stage of CIDP.published_or_final_versionThe 1st Hong Kong Neurological Congress cum 22nd Annual Scientific Meeting of the Hong Kong Neurological Society, Hong Kong, 6-8 November 2009. In Hong Kong Medical Journal, 2009, v. 15 n. 6, suppl. 7, p. 46, abstract P1

Anti-NMDA-R encephalitis: an encephalitis lerthargica-like illness

Posters: no. P14A girl of 3 years and 9 months with a 3-day history of fever and upper respiratory tract infection (URTI) was admitted with a generalised tonic-clonic convulsion, and delirium with screaming, non-sense talking, and agitation. For the first week after admission, she was lethargic with fluctuating awareness and mutism during the day but poor sleep at night. Workup for acute encephalopathy including autoimmune, infective, toxicology, metabolic and vasculitic screening showed negative findings. Erythrocyte sedimentation rate was markedly elevated and ...published_or_final_versionThe 1st Hong Kong Neurological Congress cum 22nd Annual Scientific Meeting of the Hong Kong Neurological Society, Hong Kong, 6-8 November 2009. In Hong Kong Medical Journal, 2009, v. 15 n. 6, suppl. 7, p. 47, abstract P1

Opioid therapy for chronic non-cancer pain: guidelines for Hong Kong

published_or_final_versio

The effect of a pre-exercise carbohydrate meal on immune responses to an endurance performance run

2007-2008 > Academic research: refereed > Publication in refereed journalVersion of RecordPublishe

Effects of alpha-lactalbumin or whey protein isolate on muscle damage, muscle pain, and mood states following prolonged strenuous endurance exercise

published_or_final_versio

Mental health & maltreatment risk of children with special educational needs during COVID-19

BACKGROUND: Children with special educational needs (SEN) are more vulnerable during the COVID-19 pandemic with risk of poor mental wellbeing and child maltreatment. OBJECTIVE: To examine the impact of COVID-19 on the mental health of children with SEN and their maltreatment risk. PARTICIPANTS AND SETTING: 417 children with SEN studying at special schools and 25,427 children with typical development (TD) studying at mainstream schools completed an online survey in April 2020 in Hong Kong during school closures due to COVID-19. METHOD: Emotional/behavioural difficulties, quality of life and parental stress of children with SEN were compared with typically developed children using mixed effect model. Linear regression analyses were performed to explore factors associated with child emotional/behavioural difficulties and parental stress during the pandemic. Chi-square test was performed to detect the differences in maltreatment risk before and during COVID-19. RESULTS: Children with SEN had significantly poorer overall quality of life (68.05 vs 80.65, p < 0.01). 23.5% of children had at least one episode of severe physical assault and 1.9% experienced very severe physical assault during COVID-19. Rates of physical assault increased significantly (59.8% vs. 71.2% p < 0.001) while children with mental disorders had increased risk of severe physical assault comparing to those without mental disorders (RR = 1.58, ꭓ2 = 5.19 p = 0.023). CONCLUSION: Children with SEN had poorer mental health than typically developed children during the COVID-19 pandemic. Maltreatment risk for children with SEN is higher in comparison to pre-COVID-19 era. Surveillance of child maltreatment, continuity of medical and rehabilitation care to support children with SEN are essential during a disease pandemic

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. METHODS: We applied integrated diagnostic approach and performed WES in 50 Chinese subjects (30 males, 20 females) with undiagnosed pediatric-onset NMDs despite previous specific tests. The patients were categorized in four subgroups according to phenotyping and investigation findings. Variants on NMDs gene list and open exome analysis for those with initial negative findings were identified. RESULTS: WES identified causative variants in ACTA1 (n = 2), POMT1, COL6A1 (n = 2), MTMR2, LMNA, SELENON, DNM2, TGFB1, MPZ, IGHMBP2, and LAMA2 in 13 patients. Two subjects have variants of uncertain significance (VUSs) in TTN and SCN11A, unlikely to be pathogenic due to incompatible phenotypes. The mean interval time from symptom onset to genetic diagnosis was 10.4 years (range from 1 month to 33 years). The overall diagnostic yield of WES in our cohort was 26%. Open exome analysis was necessary to identify the pathogenic variant in TGFB1 that caused skeletal dysplasia with neuromuscular presentation. CONCLUSION: Our study shows a clear role of WES in the pathway of integrated diagnostic approach to shorten the diagnostic odyssey in patients with rare NMDs

Territory wide study of patients with dystrophinopathy in Hong Kong

Poster PresentationThis journal issues entitled: 18th International Congress of The World Muscle SocietyThis is a first territory wide study in Hong Kong on Chinese patients with dystrophinopathy on their genetic mutation, motor performance, use of steroid, and the interventions they received. This study is participated by all the paediatric departments in the eleven hospitals in Hong Kong. Clinical data was systemically collected ...postprin

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. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower.link_to_OA_fulltex

The influence of a pre-exercise sports drink (PRX) on factors related to maximal aerobic performance

<p>Abstract</p> <p>Background</p> <p>Pre-exercise sports drinks (PRX) are commonly used as ergogenic aids in athletic competitions requiring aerobic power. However, in most cases, claims regarding their effectiveness have not been substantiated. In addition, the ingredients in PRX products must be deemed acceptable by the athletic governing bodies that regulate their use in training and competition. The purpose of this study was to examine the effects of a modified PRX formulation (known as EM·PACT™) from earlier investigations on factors related to maximal aerobic performance during a graded exercise test. The modification consisted of removing creatine to meet the compliance standards set forth by various athletic organizations that regulate the use of nutritional supplements.</p> <p>Methods</p> <p>Twenty-nine male and female college students varying in levels of aerobic fitness participated in a randomized crossover administration of PRX (containing 14 g/serving of fructose, medium-chain triglycerides, and amino acids mixed with 8 oz. of water) and placebo (PL) 30 minutes prior to performing a treadmill test with approximately one week separation between the trials. VO₂max, maximal heart rate (HR), time to exhaustion (Time), and percentage estimated non-protein fat substrate utilization (FA) during two <it>a priori </it>submaximal stages of a graded exercise testing were evaluated.</p> <p>Results</p> <p>The VO₂max mean value of the PRX trial was significantly greater than the PL trial (P < 0.01). The mean value for Time was also observed to be greater for the PRX trial compared to PL (P < 0.05). Additionally, percentage of FA during submaximal stages of the exercise test was greater for PRX trial in comparison to PL (P < 0.01).</p> <p>Conclusions</p> <p>The modified PRX formulation utilized in this investigation supports the findings of the previous investigation and its efficacy for enhancing indices of aerobic performance (specifically VO₂max, Time, & FA) during graded exercise testing.</p