As a geographically integral part of south China, the population mix of Hong Kong is largely influenced by itslocation. In the past150 years, its population has increased from a fewthousand to 5.7 million. This is the resultof episodic influxes of a great mass of people from China, often associated with political upheavals or economic cri-sis. It explains a population structure of95% Chinese. This structure is also reflected in the finding of genetic vari-ants in this population, which bears resemblance to neighbouring regions in China. For example, the thalassaemiasand lactose intolerance are common. However, the impact of migration from other parts of China cannot be neglec-ted, particulary for the last half century. This is evident from studies of glucose-6-phosphate dehydrogenase(G6PD) variants and other protein polymorphisms. The quick change in political situation has also promoted moreinflux of people from central and northern part of China. They bring with them a diversity of genetic constituent,mutations and diseases. However, as an international city, Hong Kong has significantinputfrommostethnic groupsin the world. Hence, the remaining 5% of its population is a heterogeneous group of minorities including Europe-ans, Indians, Japanese, and south-east Asians. Although their contribution to the cultural and economic growth inHong Kong is phenomenal, their impact on the genetic load is small. However, since their genetic makeup, andhence diseases, vary somewhatfromsouthern Chinese, they also poses specific needs to the provision of clinical ge-netic services.

Catecholamines ; Cystectomy ; Heart Transplantation ; Humans ; Male ; Middle Aged ; Paraganglioma ; diagnostic imaging ; pathology ; surgery ; Time Factors ; Ultrasonography ; Urinary Bladder ; diagnostic imaging ; pathology ; surgery ; Urinary Bladder Neoplasms ; diagnostic imaging ; pathology ; surgery

Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening brought hope with early diagnosis and prompt treatment. Newborn screening advocates have pushed for inclusion of galactosemia in the newborn screening panel. However, reports of complications despite early treatment have questioned the merits of universal screening. This paper presents issues in favour and against universal newborn screening for galactosemia.
Galactosemias ; diagnosis ; Humans ; Infant, Newborn ; Neonatal Screening ; standards

Asthma ; Bronchiectasis ; Humans

OBJECTIVETo establish a profile of the causes of apparently unexplained SS in genetic referral center and evaluate the current referral system.

METHODSThis was a retrospective database survey on patients who were referred our clinical genetic service from 1988 - 1998 primarily because of SS. We retrieved the study population from our computer database using "short stature"as a search handle and then studied the demographic, clinical and laboratory data from their medical records.

RESULTSThree hundred and fifty-three subjects were referred for genetic evaluation of SS in 1988 - 1998. The mean age of referred subjects was 11.5 years and the female to male ratio was 7.6. All referrals had undergone cytogenetic studies to exclude chromosomal abnormalities, 19% of girls with apparently unexplained short stature had Turner syndrome; at least 47.9% of the study population were normal variants and 25% of the referrals had inadequate information for classification.

CONCLUSIONSGenetic investigation is essential in the management of patients with SS, especially for girls suspected of having Turner syndrome, in which growth hormone treatment has shown to improve final height. We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short stature, and discussed the drawbacks of the current referral system.

Child ; Databases as Topic ; statistics & numerical data ; Family Health ; Female ; Growth Disorders ; diagnosis ; epidemiology ; genetics ; Hong Kong ; epidemiology ; Humans ; Karyotyping ; Male ; Referral and Consultation ; statistics & numerical data ; Retrospective Studies ; Turner Syndrome ; genetics

We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.
Adult ; Delayed Diagnosis ; DiGeorge Syndrome ; diagnosis ; genetics ; Female ; Humans ; Hypocalcemia ; diagnosis ; genetics

BACKGROUNDDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation.

METHODSA retrospective review of 67 patients.

RESULTSTwenty-three (34.3%) patients had exon deletions; whereas 5 (7.5%) patients had exon duplications. Twenty-three (34.3%) patients had small mutations, including 17 point mutations and 6 small insertions or deletions. No correlation was found between the type of mutation and the muscle phenotype or mental retardation. Significantly fewer maternal carriers were found in patients with exon deletions, and a positive family history was more common in those with small mutations. DMD phenotype was significantly less common in patients with exon deletions/duplications at the 5' hotspot, whereas all 4 small mutations associated with mental retardation were located in the 3' end of the gene.

CONCLUSIONSThe percentage of DMD exon deletions in local Chinese patients was significantly lower than the commonly quoted 60%. This indicated an ethnic or regional difference in predisposition to DMD exon deletions.

Asian Continental Ancestry Group ; Dystrophin ; genetics ; Exons ; Genotype ; Heterozygote ; Humans ; Intellectual Disability ; genetics ; Muscular Dystrophy, Duchenne ; genetics ; Mutation ; Phenotype ; Polymerase Chain Reaction

Abnormalities, Multiple ; genetics ; Amino Acid Sequence ; Blepharophimosis ; genetics ; Blepharoptosis ; genetics ; Eyelids ; abnormalities ; Female ; Forkhead Box Protein L2 ; Forkhead Transcription Factors ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Syndrome

Hepatocellular carcinoma (HCC) frequently presents as advanced stage with poor prognosis and high mortality. Systemic treatment is the treatment of choice for advanced disease. In 2007, the first multi-kinase inhibitor (MKI) sorafenib was approved and shown to modestly prolong overall survival (OS). The progress of systemic therapy has been slow afterwards until 2018 when lenvatinib, another MKI, was shown to be non-inferior to sorafenib on median OS as the first-line therapy for HCC. Since then, remarkable progress has been achieved on the treatment of advanced HCC, including the development of second-line targeted treatment, including regorafenib, cabozantinib and ramucirumab from 2017 to 2019. A growing focus has been placed on immune checkpoint inhibitors (ICIs) targeting programmed cell death-1 (PD-1), its ligand PD-L1, and cytotoxic T-lymphocyte-associated protein 4. These ICIs have proven their potency in treating HCC as both initial and subsequent line of therapy. At present, both regimens of atezolizumab combined with bevacizumab, as well as the combination of tremelimumab and durvalumab, are recommended as the first-line treatments based on positive phase III clinical trials. With the advancement of ICIs, it is anticipated that the role of MKIs in the treatment of HCC will evolve. In this article, lenvatinib, one of the most commonly used MKIs in HCC, is chosen to be reviewed.

Homeodomain Proteins ; genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Promoter Regions, Genetic ; Sleep Apnea, Central ; congenital ; genetics ; Syndrome ; Transcription Factors ; genetics