Asian Continental Ancestry Group ; genetics ; Carnitine Acyltransferases ; deficiency ; genetics ; China ; Founder Effect ; Humans ; Infant, Newborn ; Male ; Mutation ; Sudden Infant Death ; genetics

Adolescent ; Death, Sudden, Cardiac ; etiology ; Female ; Humans ; Ion Channels ; physiology ; Mutation ; Ryanodine Receptor Calcium Release Channel ; genetics ; Syncope ; etiology ; Tachycardia, Ventricular ; genetics

The discovery of a solitary pulmonary nodule (SPN) on chest imaging can be alarming for both the clinician and the patient. In the absence of a uniform guideline, managing SPN is nothing short of challenging for primary care physicians (PCPs). We present a case here of a patient presenting with prolonged cough who also displayed unilateral SPN on her chest radiograph. Through further examination, this presence was later shown to be a nipple shadow simulating SPN, and the patient was spared unnecessary testing and psychological distress.

BACKGROUNDData of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area.

METHODSThe laboratory records of plasma amino acids, plasma acylcarnitines and urine organic acids analyses from year 2005 to 2009 inclusive in three regional chemical pathology laboratories providing biochemical and genetic diagnostic services for IEM were retrospectively reviewed.

RESULTSAmong the cohort, 43 patients were diagnosed of IEM, including 30 cases (69%) of amino acidemias (predominantly citrin deficiency, hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinemia type I), 5 cases (12%) of organic acidemias (predominantly holocarboxylase synthetase deficiency) and 8 cases (19%) of fatty acid oxidation defects (predominantly carnitine-acylcarnitine translocase deficiency). The incidence of classical IEM in Hong Kong was roughly estimated to be at least 1 case per 4122 lives births, or 0.243 cases per 1000 live births. This incidence is similar to those reported worldwide, including the mainland of China. The estimated incidence of hyperphenylalaninemia was 1 in 29 542 live births.

CONCLUSIONSOur data indicate that it is indisputable for the introduction of expanded newborn screening program in Hong Kong. Since Hong Kong is a metropolitan city, a comprehensive expanded newborn screening program and referral system should be available to serve the neonates born in the area.

Acids ; urine ; Amino Acids ; blood ; Carnitine ; analogs & derivatives ; blood ; Hong Kong ; epidemiology ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; blood ; diagnosis ; epidemiology ; urine ; Neonatal Screening ; methods ; Tandem Mass Spectrometry

BACKGROUNDVon Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.

METHODSNine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA).

RESULTSThe nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G > T, was novel. The other seven VHL mutations, c.233A > G [p.Asn78Ser], c.239G > T [p.Ser80Ile], c.319C > G [p.Arg107Gly], c.481C > T [p.Arg161X], c.482G > A [p.Arg161Gln], c.499C > T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation.

CONCLUSIONSGenetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.

Asian Continental Ancestry Group ; DNA Mutational Analysis ; Humans ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; genetics

Background: Stigmatizing attitudes expressed by health care providers prevent some members of at-risk populations from accessing human immunodeficiency virus (HIV) screening and care. This attitude contributes to the continuity of the infection dissemination within our community, which gives an impact on the healthcare service and the curtailment of the global HIV/acquired immunodeficiency syndrome (AIDS) pandemic. Objective: This study was conducted to identify stigmatizing attitudes toward people living with HIV/AIDS (PLWHA) and their determinants among primary health care providers in Kinta District, Perak. Methodology: A cross-sectional study was conducted in 36 primary care clinics in Kinta District, Perak. Using stratified random sampling, 365 primary health care providers were recruited into the study. A validated self-administered questionnaire was used to obtain sociodemographic data as well as information on the healthcare experiences of healthcare providers, their knowledge of HIV/AIDS, and attitudes toward PLWHA. Determinants were identified using multiple linear regression. Results: More than half of the respondents (54.1%) had never provided care to HIV/AIDS patients. A minority (29.9%) had received training on HIV/AIDS. This study shows that doctors (Coef.= -9.50, 95% CI: -18.93, -0.07, p= 0.048), respondents with HIV-positive relatives, (Coef.= -5.61, 95% CI: -10.57, -0.65, p= 0.027), those who had provided care to HIV/AIDS patients (Coef.= -2.38, 95% CI: -4.31, -0.45, p= 0.016), and those with a higher knowledge score on HIV/AIDS (Coef.= -0.86, 95% CI: -1.59, -0.13, p= 0.021) were less likely to show stigmatizing attitudes toward PLWHA. Conclusion: The issue of stigmatizing attitudes toward PLWHA among primary health care providers needs to be addressed. This study finds that knowledge, profession, experiences with caring for PLWHA, gender, and having HIV-positive relatives are significant predictors of stigmatizing attitudes toward PLWHA among primary health care providers in Kinta District, Perak. Interventional programs to improve knowledge and awareness, as well as decrease stigma toward PLWHA, should be implemented among all health care providers, especially those who have no opportunity to provide direct care.