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The objective of this study is to investigate the contributions of Mikania micrantha (chinese creeper) to remediate heavy metal pollutants present in an e-waste-contaminated soil. Different proportions of e-waste soil (0%, 25%, 50%, 75%, and 100% w/w) planted with Cynodon dactylon together with the test species were prepared for testing relative seed germination (RSG), relative root growth (RRG), and germination index (GI) tests. A significant higher value of GI (77.8%) was found in M. micrantha than that of the other species when planting in 100% e-waste-contaminated soil. A significant correlation (< 0.05) was found between heavy metal concentration and germination assays in M. micrantha. A significant decrease in heavy metal concentration of the polluted soil after the experiment indicated that biomolecule development studies to determine the aggregate benefit of M. micrantha for phytoremediation remain to be studied in future.

PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS individuals are characterized by macrocephaly, benign growth of multiple tissues and increased tumor risk. In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly. In this report, 13 suspected PHTS patients were screened for mutation in the PTEN gene. A missense variant (c. 302T > C) substituting the isoleucine at codon 101 to a threonine, a single nucleotide insertion (c. 327-328insC) causing a frame shift mutation and termination at codon 109, and a nonsense variant (c. 1003C > T) truncated the protein at codon 335 were identified. The I101T mutation significantly reduced PTEN protein expression levels by 2.5- to 4.0-fold. Mechanistically, I101T reduced the protein half-life of PTEN possibly due to enhanced polyubiquitination at Lysine 13. However, the I101T mutant retained almost 30% of the lipid phosphatase activity of the wild-type protein. Finally, the I101T mutant has reduced phosphorylation at a PTEN auto-dephosphorylation site at Threonine 366 and a lowered ratio of nuclear to cytosolic protein level. These partial losses of multiple PTEN biochemical functions may contribute to the tissue overgrowth and autistic features of this PHTS patient. Autism Res 2018, 11: 1098-1109. © 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: The genetics of autism spectrum disorders is highly complex with individual risk influenced by both genetic and environmental factors. Mutation in the human PTEN gene confers a high risk of developing autistic behavior. This report revealed that PTEN mutations occurred in 23% of a selected group of Hong Kong patients harboring autistic features with gross overgrowth symptoms. Detailed characterization of a PTEN mutation revealed reduced protein stability as one of the underlying mechanisms responsible for reduced PTEN activity., (© 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc.)

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Purpose The aim of this study was to evaluate the reliability, construct validity and predictive validity of the Hong Kong Chinese version of the Orebro Musculoskeletal Pain Screening Questionnaire (COMPSQ-HK). Methods The COMPSQ-HK was developed using the forward-backward translation. Internal consistency was assessed using Cronbach's alpha and test-retest reliability was examined using intraclass correlation coefficient with one-way random-effects model (ICC 1,1 ), minimum detectable change (MDC) and 95% limits of agreement (LoA). Construct validity was evaluated by correlating the COMPSQ-HK with the Numeric Pain Rating Scale, Roland-Morris Disability Questionnaire, Northwick Park Neck Pain Questionnaire, Tampa Scale for Kinesiophobia, and Medical Outcomes Study Short Form 12. The predictive validity was investigated using receiver operating characteristics (ROC) curve analyses with sick leave >60 days and return-to-work for ≥4 consecutive weeks as outcomes at 1 year follow-up. The areas under the curve (AUC) were calculated. Results The COMPSQ-HK was administered to 305 patients with acute/subacute low back pain and 160 patients with acute/subacute neck pain. The Cronbach's alphas and ICC 1,1 ranged from 0.83 to 0.84 and 0.81 to 0.92 respectively. The MDC were 32.1 and 21.1. The 95% LoA were -32.4 to 31.8 and -15.4 to 26.7. The Pearson r ranged from 0.333 to 0.697 in absolute value. The AUC for the ROC curve analyses ranged from 0.59 to 0.71. Conclusions The COMPSQ-HK has good internal consistency, moderate test-retest reliability, satisfactory construct validity and predictive validity as a screening tool for patients with back and neck pain at risk of chronic disability.

Objectives: To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong., Methods: This retrospective case series was conducted at two tertiary genetic clinics, the Clinical Genetic Service, Department of Health, and clinical genetic clinic in Queen Mary Hospital in Hong Kong. All records of patients with suspected Silver-Russell syndrome under the care of the two genetic clinics between January 2010 and September 2015 were retrieved from the computer database., Results: Of the 28 live-birth patients with Silver-Russell syndrome, 35.7% had H19 loss of DNA methylation, 21.4% had maternal uniparental disomy of chromosome 7, 3.6% had mosaic maternal uniparental disomy of chromosome 11, and the remaining 39.3% were Silver-Russell syndrome of unexplained molecular origin. No significant correlation between (epi)genotype and phenotype could be identified between H19 loss of DNA methylation and maternal uniparental disomy of chromosome 7. Comparison of molecularly confirmed patients and patients with Silver-Russell syndrome of unexplained origin revealed that postnatal microcephaly and café-au-lait spots were more common in the latter group, and body and limb asymmetry was more common in the former group. Performance analysis showed the Netchine et al and Birmingham scoring systems had similar sensitivity in identifying Hong Kong Chinese subjects with Silver-Russell syndrome., Conclusion: This is the first territory-wide study of Silver-Russell syndrome in Hong Kong. The clinical features and the spectrum of underlying epigenetic defects were comparable to those reported in western populations.

With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1(+/-) signature encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype. The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing.

The pathogenesis and management of lateral epicondylalgia, or tennis elbow, a common ailment affecting middle-aged subjects of both genders continue to provoke controversy. Currently it is thought to be due to local tendon pathology, pain system changes, and motor system impairment. Its diagnosis is usually clinical, based on a classical history, as well as symptoms and signs. In selected cases, additional imaging (X-rays, ultrasound, and magnetic resonance imaging) can help to confirm the diagnosis. Different treatment modalities have been described, including the use of orthotics, non-steroidal anti-inflammatory drugs, steroid injections, topical glyceryl trinitrate, exercise therapy, manual therapy, ultrasound therapy, laser therapy, extracorporeal shockwave therapy, acupuncture, taping, platelet-rich plasma injections, hyaluronan gel injections, botulinum toxin injections, and surgery. Nevertheless, evidence to select the best treatment is lacking and the choice of therapy depends on the experience of the management team, availability of the equipment and expertise, and patient response. This article provides a snapshot of current medical practice for lateral epicondylalgia management.

Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal muscle weakness (its cardinal features), we suggest that PABPN1 gene analysis should be the first-line investigation to rule out this condition. Muscle biopsy can be reserved for atypical cases. Non-specific mitochondrial changes in the muscle specimens of these patients should be appreciated, so as to avoid diagnostic confusion. It is hoped that greater awareness among medical professionals and judicious use of PABPN1 gene analysis will lead to earlier diagnosis, better management, and avoidance of unnecessary invasive investigations of affected patients.

Purpose: Conjunctival mucosa-associated lymphoid tissue (MALT) lymphoma is a rare, low-grade, non-Hodgkin's B-cell lymphoma. We report our successful management of localized conjunctival MALT lymphoma with topical Mitomycin C (MMC)., Methods: This is a case report. A 35-year-old woman had a mobile painless 1.5x1-cm mass in the left conjunctiva for 2 years. Examination revealed two similar masses in the right conjunctiva. Incisional biopsy for immunohistochemical stain and PCR of the left conjunctival mass showed MALT lymphoma. She was given four courses of topical 0.04% MMC eyedrops. There was transient conjunctival injection and superficial punctate keratopathy which responded to topical steroid and lubricant., Results: The lesions regressed completely after the fourth cycle of treatment and repeat biopsy confirmed complete remission., Conclusion: This is the first report of localized conjunctival MALT lymphoma being successfully treated by topical MMC with minimal local controllable side effects.

Objectives: To review the reported trend of leprosy in Hong Kong., Design: Retrospective study., Setting: Three major leprosy clinics in Hong Kong., Patients: Leprosy patients registered between 1970 and 2004., Main Outcome Measures: Incidence, rate of deformities, distribution of leprosy subtypes, age distribution, and relapses after therapy., Results: The incidence of leprosy has decreased from 3.2 per 100,000 population in 1970 to 0.088 per 100,000 population in 2004. The proportion of the three subtypes of leprosy has remained roughly equal. There have been 87 relapses within this period with 54 (62%) cases of lepromatous leprosy, 22 (25%) borderline leprosy, and 11 (13%) tuberculoid leprosy. The overall relapse rate was 6.7% (0.2 per 100 person-years); this can be subdivided as a relapse rate for multidrug therapy of 3.2% (0.33 per 100 person-years) and for dapsone monotherapy of 8.3% (0.2 per 100 person-years). The mean interval to relapse for multidrug therapy and dapsone monotherapy was 1.83 and 5.8 years, respectively. The mean duration till relapse for patients on dapsone monotherapy was 15.6 years., Conclusion: Treatment with recommended WHO-multidrug therapy is effective and well tolerated. Dapsone monotherapy is no longer effective. Leprosy is well controlled in Hong Kong but continued surveillance is required to detect relapses and to ensure good patient compliance with treatment.

Objectives: To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene., Design and Methods: The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers., Results: MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR. In addition, the extent of the deletions and duplications could be more accurately defined which in turn facilitated a genotype-phenotype correlation., Conclusions: MLPA is superior to multiplex PCR. It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers.

Objectives: (1) To evaluate the prevalence of subtelomeric deletion in moderate to severe mental retardation population, (2) to assess the feasibility and cost-effectiveness of combined methodology in routine workup of this sub-population., Method: Twenty unrelated patients using strict selection criteria were recruited for the study from the Clinical Genetic Service. Patients were initially screened by Multiplex Ligation-dependent Probe Amplification (MLPA) for subtelomeric imbalance followed by FISH analysis for anatomical integrity. This is then followed by parental subtelomeric FISH analysis., Results: Three subtelomeric deletions were identified. They were Deletion 1p36, Deletion 1q44 and Deletion 10q26; these were previously unidentified by conventional technique., Conclusions: The prevalence of subtelomeric deletion in our cohort of moderate to severe mental retardation patients is consistent with published findings of around 10%. The figure is on the higher side if more stringent criteria is used. The combination of strict clinical criteria, MLPA and selective subtelomeric FISH was shown to be feasible and cost-effective.

In 1997, a high-pathogenicity H5N1 avian influenza virus caused serious disease in both man and poultry in Hong Kong, China. Eighteen human cases of disease were recorded, six of which were fatal. This unique virus was eliminated through total depopulation of all poultry markets and chicken farms in December 1997. Other outbreaks of high-pathogenicity avian influenza (HPAI) caused by H5N1 viruses occurred in poultry in 2001 and 2002. These H5N1 viruses isolated had different internal gene constellations to those isolated in 1997. No new cases of infection or disease in man due to these or other H5N1 viruses have been reported. This paper provides an overview and chronology of the events in Hong Kong relating to avian influenza, covering the period from March 1997 to March 2002.

An outbreak of highly pathogenic avian influenza caused by multiple genotypes of H5N1 virus occurred in Hong Kong, commencing in January 2002. Infection in local chicken farms was preceded by the detection of virus in multiple retail markets and the main poultry wholesale market. The first case of this disease on a local farm was detected on February 1, 2002. By February 9, 2002, 15 farms were infected, and by late March a total of 22 infected farms had been identified. Three main clusters of infected farms were seen, suggesting multiple incursions of virus, and subsequent limited lateral spread to neighboring firms. Control of this disease has been effected through a combination of quarantine, tightening of biosecurity measures, and depopulation of infected and contact farms. About 950,000 birds have been destroyed. Vaccination using a killed H5 vaccine was introduced in April 2002 to farms in one zone where infection has persisted. None of the viruses isolated contained the internal genes found in the 1997 H5N1 virus.

Behavioural serial sentinel surveillance survey for female sex workers (FSWs) was carried out in the Government Social Hygiene Clinics in Hong Kong during 1999 and 2000. A total of 1366 and 1451 FSWs participated in the questionnaire survey respectively. The results showed that the majority of FSWs attending the clinics were of Chinese ethnicity (83.8%, 87.6%) while Thai (13.0%, 9.49%) and Filipino (2.1%, 2.7%) were the main foreign ethnic groups. The karaoke night club was the most frequent reported workplace (32.0%, 32.6%) followed by a club (8.9%, 11.7%) and free-lancing (8.6%, 9.0%). The proportion of FSWs who always used condoms in vaginal sex with commercial sex partners was 70.9% and 75.0% respectively (P=0.038). Compared with previous results, a rising trend of condom use by FSWs in commercial sex was observed. However, there was a relatively low condom use during commercial oral sexual intercourse (30.7%, 36.6%) and sex with their regular sex partners in all forms of sexual activities. Client dislike is the main attributed factor for not wearing condoms. The point prevalence of both infectious syphilis and HIV infection was 0.1% in both years. These data are useful for planning, resource allocation and evaluation of outreach activities and STI services targeting at FSWs and their clients. They provide a sampling framework for further surveillance.

Objective: To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin-1 (FBN1) gene., Methods: Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and the other of neonatal onset. Their clinical features were described. Mutational analysis of the FBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23-32, where the mutational hotspots for severe forms of Marfan syndrome are located., Results: Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported mutation., Conclusion: Taking advantage of the clustering phenomenon of mutations in severe forms of marfan syndrome, one can identify FBN1 mutations in these patients by first screening the mutational hotspots, thus reducing the effort that would otherwise be much greater because of the size of the gene.

Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency is common in Hong Kong with an incidence of 4.5% in male and 0.36% in female (Lo et al. 1996).The Neonatal Screening Unit of Clinical Genetic Service started its territory-wide neonatal screening program for G6PD deficiency and congenital hypothyroidism in 1984 (Lam et al, 1986). Because of insufficient manpower and resource, we have been giving health counseling on the phone to parents of G6PD deficient babies and then refer them to nearby maternal and child health centres for monitoring of jaundice. The disease, mode of inheritance, recurrence risk and the precaution against certain medicines (Chan 1996) and chemicals are explained. The purpose (Lam, 1994) is to reassure the parents that their G6PD deficient babies can be as normal as everyone and that they can have normal life. Nevertheless, it has not been established whether telephone counseling has any effect on the affected family in the form of psychological trauma (Marteau, 1989; Fyro, 1987; Li et al, 1996) or significant influence on the decision on future reproduction. This study tried to evaluate the service from the parents' point of view by 1) gathering information on parents' awareness and perception of G6PD deficiency, 2) determination of parents' attitude towards the telephone counseling, and 3) finding out the effect of G6PD deficiency on parents' decision on future reproduction. Over 300 parents were contacted by telephone, and were asked to respond to questions on a questionnaire . The telephone interview focused on parents' understanding of G6PD deficiency, their attitude towards this disease and the possible effect on future reproduction decision. Results showed that over 90% of cases that we had counseled attended the maternal and child health centres. Most of them accepted the presence of G6PD deficiency in their family which did not affect their decision on future pregnancy. Telephone counseling failed to establish a helping relationship with the parent as face to face counseling was more personal. The findings revealed that though telephone counseling had its shortcoming it served the target group effectively. Telephone counseling is still the method of choice for the G6PD deficiency counseling in this locality.

Pallister-Killian syndrome was first described in 1977 by Pallister, et al. It is a multiple congenital anomalies/mental retardation syndrome caused by mosaic tetrasomy of chromosome 12p. The chromosomal abnormality is often missed if only peripheral lymphocytes are examined, and bone marrow or cultured skin fibroblasts may be required for confirmation. Here we report the first case in Hong Kong.

Objective: To study the role of chromosomal aberration in the causation of recurrent spontaneous abortion (RSA) in Chinese population., Methods: A total of 514 Chinese couples with 2 or more spontaneous abortions at less than 24 weeks of gestation were included. For each proband, a minimum of 13 metaphases were analyzed by G-banding. Additional cells (usually 50-100 cells) were screened when mosaicism was suspected. Chi 2 test was used to compare the number and frequency of couples with and without balanced translocation with respect to whether liveborn was present or absent. Chi 2 test for trend was used to show whether a correlation existed between the occurrence of balanced translocation and the number of spontaneous abortions at ascertainment., Results: The overall incidence of chromosome anomaly was 51 out of 514 (9.92%). Chi 2 test for trend analysis showed that the chance of one member of a couple being a balanced carrier increased with the number of spontaneous abortions. The chance of finding translocation in couples with liveborn was higher than that in couples without liveborn, but the difference was not statistically significant. We also found that pericentric inversion 9 did not play an important role in the causation of recurrent abortion., Conclusions: Cytogenetic analysis is indicated in couples with 2 or more spontaneous abortions and the chance of finding chromosomal aberration increases with the number of abortions at the time of ascertainment.