Background: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the first tier genetic testing for patients with autism spectrum disorder (ASD). In this regard, diagnostic yield of array comparative genomic hybridization (CGH) for ASD patients is determined in a cohort of Chinese patients in Hong Kong.
Methods: A combined adult and paediatric cohort of 68 Chinese ASD patients (41 patients in adult group and 27 patients in paediatric group).
Background: Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism. To-date, about 30 genetically confirmed cases had been reported. The clinical phenotypes of this condition are variable; some patients were asymptomatic while some may present with developmental delay or autistic features.
View Article and Find Full Text PDFIn living donor liver transplantation (LDLT), a right liver graft is larger than a left liver graft and hence leads to better recipient survival. However, in comparison with donor left hepatectomy, donor right hepatectomy carries a higher donor risk. We estimated the expansion of the applicability of left liver living donor liver transplantation (LLDLT) by lowering the graft weight (GW)/standard liver volume (SLV) ratio in increments of 5%.
View Article and Find Full Text PDFBackground: The diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency, one of the pediatric neurotransmitter disorders, is classically made with plasma enzyme level or cerebrospinal fluid (CSF) neurotransmitter profile, while both are technically demanding and the latter requires the invasive lumbar puncture. So far less than 100 cases have been reported worldwide with 20% from Taiwan. It was postulated that the condition might have been under-diagnosed among Chinese populations and a non-invasive screening tool should be developed in areas with high prevalence.
View Article and Find Full Text PDFBackground: Four hundred twenty-eight patients with a diagnosis of breast cancer were assessed. All patients underwent axillary ultrasonographic scanning preoperatively or at the time of initial breast imaging. Suspicious axillary glands underwent core needle biopsy under ultrasonographic guidance.
View Article and Find Full Text PDFEpilepsy is a chronic neurological disorder accompanied by a wide range of comorbid conditions that can adversely affect the quality of life of children. Sleep disturbances not only predispose children to mood, cognitive, and behavioral impairments, but also have a significant impact on physical health. The aim of this study was to evaluate sleep patterns among Chinese children with epilepsy and healthy subjects in Hong Kong, and examine the relationship between parent-reported sleep problems and specific epilepsy parameters.
View Article and Find Full Text PDFThis 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.
View Article and Find Full Text PDFGlutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency, is a rare metabolic disorder inherited in an autosomal recessive manner. The condition can be caused by mutations in at least 3 genes, including ETFA, ETFB, and ETFDH. When this potentially lethal disorder is known for its clinical and biochemical heterogeneity, mutation analysis will be an invaluable part of diagnosis.
View Article and Find Full Text PDFIntroduction: Sarcosinaemia is a rare metabolic disorder which has not been reported in Asia.
Clinical Picture: The urine samples of 2 patients were screened as a routine metabolic screening offered for patients with mental retardation in our hospital. We used gas chromatography-mass spectrometry (GC-MS) which is capable of detecting abnormal pattern in amino acids and organic acids.
This investigation reports the prevalence and clinical profile of subacute sclerosing panencephalitis in two developed cities of southern China. A territory-wide survey was conducted to identify all subacute sclerosing panencephalitis cases diagnosed during 1988-2002 in Hong Kong and Macau. Altogether, 10 cases (male:female = 7:3) were identified of whom six were still alive.
View Article and Find Full Text PDFHallervorden-Spatz disease is a rare neurodegenerative disorder characterized by progressive dystonia, rigidity, and dementia. In these patients, chronic repeated dystonic movements, especially of the head and neck, can lead to excessive stress on the cervical spine, resulting in early degenerative changes and myelopathy. This report focuses on a young patient with Hallervorden-Spatz disease who presented with C4 to C5 cervical disk extrusion and cord compression because of premature spondylotic changes of the cervical spine.
View Article and Find Full Text PDFIsolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy. There is a special demand for prenatal diagnosis, since no effective treatment is available for isolated sulfite oxidase deficiency. Until now, the cDNA sequence of the sulfite oxidase (SUOX) gene has been available, but the genomic sequence of the SUOX gene has not been published.
View Article and Find Full Text PDF