Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

Background: Allan-Herndon-Dudley syndrome (MCT 8 deficiency) is an X-linked recessive condition caused by hemizygous pathogenic variants in SLC16A2 encoding the monocarboxylate transporter 8 (MCT8). Patients present with global developmental delay and neurological impairment, and abnormal serum thyroid function tests. The drug, 3,3',5 triiodothyroacetic acid (TRIAC), was recently demonstrated to improve the endocrinological profile.

Changes of sarcopenia case finding by different Asian Working Group for Sarcopenia in community indwelling middle-aged and old people.

Sarcopenia is an emerging issue, but there is no universal consensus regarding its screening and diagnosis, especially regarding the influence of the Asian Working Group for Sarcopenia (AWGS) 2019 new definition on the prevalence of community-dwelling adults. To compare the prevalence of sarcopenia between the 2019 and 2014 definitions, a cross-sectional study including 606 normal nutritional status subjects (203 men/403 women; mean age 63.3 ± 10.

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.

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.

Background: Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form.

Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospinal fluid neurotransmitter analysis performed at our centre. All cases had an elevated urine vanillactic acid and, in most cases, with N-acetylvanilalanine detected.

Effects of enriched branched-chain amino acid supplementation on sarcopenia.

To evaluate the effects of short-term administration of enriched branched-chain amino acids (BCAAs) on subjects with pre-sarcopenia or sarcopenia, our quasi-experimental study enrolled 33 subjects (12 pre-sarcopenia/21 sarcopenia; 6 men/27 women; mean age 66.6 ± 10.3 years) to take one sachet (3.

Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.

Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies are often nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield.

Prevalence and parental awareness of hearing loss in children with Down syndrome.

Background: To establish the prevalence of hearing deficit in children with Down syndrome (DS) in Hong Kong as measured by brainstem auditory evoked potentials (BAEP). The secondary objective is to examine the agreement between BAEP and clinical questioning in detecting hearing deficit in DS.

Methods: Consecutive DS patients attending the Down's Clinic in a regional pediatric referral center were recruited into this cross-sectional study.

Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15,000 livebirths. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling.

Is there an accurate method to measure metabolic requirement of institutionalized children with spastic cerebral palsy?

Objectives: This study hypothesized that there is no difference between energy expenditure measured by indirect calorimetry (IC) and that estimated by predicted formulas compared with the actual intake of children with spastic cerebral palsy (CP).

Methods: Fifteen children aged 3 to 18 years with spastic CP and associated complications were recruited. IC was used to measure mean energy expenditure (MEE) compared with 3 predicted equations for energy expenditure (PEE), including body surface area (BSA), the recommended daily allowance (RDA), and an equation designed specifically for patients with CP.

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age.

Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity.

The correct name of the eighth author should be given as Sik-To Lai, not Jak-Yiu Lai.

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced.

Sonographic imaging of meniscal subluxation in patients with radiographic knee osteoarthritis.

Background/purpose: This study was undertaken to describe the sonographic features of meniscal subluxation in the weight-bearing position and to determine any association between meniscal subluxation and radiographic osteoarthritis.

Methods: In total, 238 knees with symptoms were examined successfully with weight-bearing anteroposterior and lateral radiographs and high resolution ultrasonography. The radiographs were examined to determine whether participants had radiographic osteoarthritis, graded using the Kellgren-Lawrence Scale.

Overlay measurement using angular scatterometer for the capability of integrated metrology.

Angular scatterometry, which has the advantage of good measurement precision, is an optical measurement technology based on the analysis of light scattered from periodic features, such as a linear grating, and is proposed as an alternative solution for overlay metrology. We present overlay measurements using an angular scatterometer and a bright-field microscope. A theoretical library based on rigorous coupled wave theory was created, and the reflected signatures measured by angular scatterometer were matched to the library to obtain structure parameters, including overlay, critical dimension (CD), and sidewall angle at the same time.

Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome.

We studied the in vivo cerebral metabolites and documented the presence of MECP2 gene mutations in six Chinese females with Rett syndrome. Magnetic resonance spectroscopy spectra from the frontal lobe (gray and white matter) and deep gray nuclei (basal ganglia and thalamus) of either side were obtained. N-acetylaspartate/total creatine, choline/total creatine, and N-acetylaspartate/choline ratios were analyzed and compared with six healthy age-matched female control subjects.

Ictal Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis.

Paroxysmal kinesigenic choreoathetosis is a rare neurologic disorder characterized by sudden attacks of brief involuntary dyskinetic movement that are precipitated by voluntary movement. A 14-year-old male who presented with frequent brief attacks of hemidystonia triggered by sudden movement is reported. Investigations, including video electroencephalogram and magnetic resonance imaging of brain, were normal.