The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.

INTRODUCTION: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM. METHODS: The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling. RESULTS: In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years. CONCLUSION: The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.

Prospective assessment of the Hong Kong Hospital Authority universal Down syndrome screening programme.

OBJECTIVE: To evaluate the performance of the locally developed universal Down syndrome screening programme. DESIGN: Population-based cohort study in the period July 2010 to June 2011 inclusive. SETTING: Four Hong Kong Hospital Authority Departments of Obstetrics and Gynaecology and a central university-based laboratory for maternal serum processing and risk determination. PARTICIPANTS: Women were offered either a first-trimester combined test (nuchal translucency, free beta human chorionic gonadotropin, and pregnancy-associated plasma protein-A) or nuchal-translucency-only test, or a second-trimester double test (alpha-fetoprotein and total human chorionic gonadotropin) for detection of Down syndrome according to their gestational age. Those with a trisomy 21 term risk of 1:250 or higher were offered a diagnostic test. RESULTS: A total of 16 205 pregnancies were screened of which 13 331 (82.3%) had a first-trimester combined test, 125 (0.8%) had a nuchal-translucency test only, and 2749 (17.0%) had a second-trimester double test. There were 38 pregnancies affected by Down syndrome. The first-trimester screening tests had a 91.2% (31/34) detection rate with a screen-positive rate of 5.1% (690/13 456). The second-trimester test had a 100% (4/4) detection rate with a screen-positive rate of 6.3% (172/2749). There were seven (0.9%) pregnancies that miscarried following an invasive diagnostic test. There were two Down syndrome-affected live births, both with an estimated first-trimester trisomy 21 term risk lower than 1:250. CONCLUSION: The universal screening programme offered at the four units was effective and achieved the expected detection rates and low false-positive rates, and to maintain these, the current emphasis on training, quality control, and regular auditing must continue.

Contrast-enhanced ct and angiographic findings in hepatic perivascular epithelioid cell tumor.

We report a case of hepatic perivascular epithelioid cell tumor (PEComa) in a woman who was not a carrier of viral hepatitis and had a normal alpha-fetoprotein (AFP) level. CT scan showed a well-enhanced mass in the arterial-phase followed by early washout in the portal venous-phase in the lateral segment of the liver. Angiography revealed a hypervascular tumor in the liver with rapid washout of the contrast. If a hepatic tumor is found in a female patient with normal AFP level who is not a carrier of hepatitis and is free of alcoholic liver cirrhosis, tissue biopsy should precede treatment to avoid misdiagnosis of liver PEComa as hepatocellular carcinoma.

Parental attitudes on expanded newborn screening in Hong Kong.

OBJECTIVES: Classical inborn errors of metabolism (IEM) affect about 1 in 4000 in Hong Kong. Despite the widespread implementation of expanded newborn screening in most countries, Hong Kong only screen for three conditions and the awareness of public has not been evaluated. This is the first study to examine the parental knowledge and attitudes towards expanded newborn screening in Hong Kong. METHODS: A cross-sectional survey was conducted in the Princess Margaret Hospital. Parents with babies born from 1st July to 31st October 2010 were randomly recruited. Fifteen questions relating to the knowledge of newborn screening and biochemical genetic disorders, preferences about the features of newborn screening, the economic values, and attitudes toward false positive results were asked. RESULTS: In total, 172 subjects were interviewed by phone (overall response rate 97.2%). There were 87.8% parents who had never heard of expanded newborn screening; 99.4% demanded more parental education; 83.5% thought the programme should be implemented immediately; 97.7% supported population screening, even though the diseases are incurable; 93.9% accepted the possibility of false positive and false negative results; 70.4% preferred a voluntary basis; 83.2% believed that the programme should be fully government funded as basic primary care; 98.8% agreed that Hong Kong should follow mainland China's policy on expanded newborn screening; 98.2% required pre-test counseling; and 96.4% required an explicit parental consent before blood sampling. CONCLUSIONS: The response from parents overwhelmingly favoured having expanded newborn screening in Hong Kong. Parental tolerance was high. Parents valued the parental autonomy with informed consent and pre-test counseling the most. The success of any screening programme requires the public participation and this study is the first to prove the parental call for an expanded newborn screening in Hong Kong.

Evaluation of family-centred practices in the early intervention programmes for infants and young children in Singapore with Measure of Processes of Care for Service Providers and Measure of Beliefs about Participation in Family-Centred Service.

BACKGROUND: The primary purpose of this study was to report on an evaluation of the perceptions and beliefs of service providers towards family-centred practices in 11 early intervention programmes for infants and young children in Singapore. METHODS: The Measure of Processes of Care for Service Providers (MPOC-SP) and Measure of Beliefs about Participation in Family-Centred Service (MBP-FCS) were administered to 213 service providers made up of teachers, therapists, psychologists and social workers providing centre-based therapy to children with special needs who were below the age of 6 years. RESULTS: Exploratory factor analyses were performed with both scales. Nineteen of the 27 MPOC-SP items were retained and supported the original four-factor structure model. The exploratory factor analyses on MBP-FCS provided a less satisfactory outcome. Fourteen of the 28 items were retained and these loaded onto four factors. The two factors relating to Beliefs about benefits of FCS and Beliefs about the absence of negative outcomes from FCS failed to emerge as separate factors. Further multiple regressions indicated that more direct work with families and positive self-efficacy in implementing FCS contributed significantly to explaining service providers' positive perception towards family-centred practice in service delivery. CONCLUSIONS: This is the first time MPOC-SP and MBP-FCS were administered to a population in an Asian context. While MBP-FCS would benefit from further development work on its construct, MPOC-SP offered important insights into service providers' perspectives about family-centred practices that would have useful implications for professional and service development.

Synovial chondrosarcoma arising from synovial chondromatosis of the knee.

We report the case of a 51-year-old woman who had suffered from right knee pain and stiffness for 40 years. Her symptoms had gradually worsened over the past 5 years. One year previously, when she first visited our clinic, plain radiographs and CT scan images had revealed synovial chondromatosis over the right knee. At the current admission, follow-up MRI showed synovial masses around the knee and worsening of endosteal cortical scalloping in the patella, femoral condyle, and tibial plateau. After diagnosis on the basis of frozen sections, the patient had total excision of the lesions and total knee athroplasty. Histological examination revealed synovial chondromatosis in the joint cavity and grade 1 chondrosarcoma invasion into the adjacent bone. In long-standing synovial chondromatosis, presentation with aggravated symptoms and deterioration on imaging findings should alert clinicians to the potential for malignant change.

Practical Aspects of Shortening Acquisition Time in Brain MR Susceptibility-Weighted Imaging.

Magnetic resonance susceptibility-weighted imaging (SWI), a novel 3D gradient echo MRI sequence exploiting phase and magnitude data for post-processing, is able to detect blood, iron, calcification and deoxygenated hemoglobin content for brain. SWI has been widely used to evaluate cerebral vascular disorders, trauma, multiple sclerosis, and tumors. We have also used SWI to evaluate acute stroke patients to identify thrombosis and possible penumbra. The acquisition was too long for examining acute stroke patients due to motion from agitation and mental changes. We have altered the parameters of phase resolution, voxel size, matrix size and partial Fourier to shorten the acquisition time to improve the diagnostic quality of SWI for acute stroke patients. The result was to reduce the acquisition time from 3:46 min to 2:14 min thereby providing a helpful tool in screening stroke patients.

Re-emergence of late presentations of fetal haemoglobin Bart's disease in Hong Kong.

OBJECTIVES: To compare early and late presentations of fetal haemoglobin Bart's disease in the Kowloon West Cluster in Hong Kong, and to find reasons for the re-emergence of late presentations. DESIGN: Case series with internal comparisons. SETTING: Two tertiary obstetric units in Hong Kong. PATIENTS: All cases with confirmed diagnosis of fetal haemoglobin Bart's disease from 1 January 2000 to 31 December 2009. PRIMARY OUTCOME: antenatal care in the current pregnancy. SECONDARY OUTCOMES: clinical presentations, ultrasound features, and pregnancy outcomes. RESULTS: A total of 59 cases (46 early presentations and 13 late presentations) of fetal haemoglobin Bart's disease were identified during the study period. All the late presentations were identified from year 2003 onwards. Late presentations were significantly associated with non-eligible obstetric patients (69% vs 11%; P<0.001), non-booked status at our antenatal service (62% vs 0%; P<0.001), and unavailability of partner's mean corpuscular volume status (23% vs 0%; P=0.009). Mothers presenting late were more likely to have symptoms or signs (85% vs 0%; P<0.001) and to suffer from gestational hypertensive disorder (54% vs 0%; P<0.001). Ultrasound features of these pregnancies included cardiomegaly (94%), placentomegaly (98%), and hydrops fetalis (77%). All pregnancies presenting early were either legally terminated or miscarried. The perinatal mortality in late presentations was 85%. CONCLUSION: The re-emergence of late presentations of fetal haemoglobin Bart's disease after 2003 was related to influx of non-eligible obstetric patients without proper antenatal screening and diagnosis of thalassaemia. Maternal low mean corpuscular volume and characteristic prenatal ultrasound features such as cardiomegaly, placentomegaly, and hydrops fetalis are useful for detecting affected pregnancies in this group of patients. Better education of both patients and doctors is necessary to explain the importance of early diagnosis of the disease and the seriousness of complications due to late presentations, so as to reduce undesirable maternal and perinatal outcomes.

Brain infarction as the initial presentation of primary posterior mediastinal seminoma.

A 40-year-old man was admitted with acute onset of slurred speech and right hemiparesis. Cerebral infarction was diagnosed from magnetic resonance (MR) images. Chest X-ray incidentally revealed a posterior mediastinal tumour, which proved to be seminoma on CT-guided biopsy. The patient then received chemotherapy. Five months later, right upper limb weakness and slurred speech occurred again. Brain MR images revealed two metastatic lesions in the prior infarct areas, which on histology proved to be metastatic seminoma.

Determinants of insulin responsiveness in young women: Impact of polycystic ovarian syndrome, nitric oxide, and vitamin D.

BACKGROUND: Polycystic ovary syndrome (PCOS) is associated with incremental risk of atherosclerosis and possibly of cardiovascular events. Insulin resistance (IR) occurs frequently in PCOS subjects, which might be one of the mechanisms involved in engendering such risk. We sought to evaluate whether the impact of other factors potentially associated both with PCOS and with IR might differentially modulate degree of IR in women with and without PCOS. METHODS AND RESULTS: We measured body mass index (BMI), hs-CRP, plasma concentrations of asymmetric dimethylarginine (ADMA), vitamin D (25(OH)D3) levels and platelet responsiveness to nitric oxide donor sodium nitroprusside (NO responsiveness) in 47 young women (n=27 with PCOS and n=20 weight-matched controls) without metabolic syndrome, hypertension or overt cardiovascular disease. We performed univariate and multivariate regression analyses to establish correlates of the quantitative insulin-sensitivity check index (QUICKI), as a marker of IR. On univariate analysis, plasma 25(OH)D3 levels and low NO responsiveness tended to be direct correlates with QUICKI in the entire subject group. BMI, hs-CRP, and ADMA levels were significant inverse correlates of QUICKI in PCOS subjects, but not in subjects without PCOS. On multivariate analysis, NO responsiveness, and 25(OH)D3 levels, but not PCOS per se were significant correlates of QUICKI. CONCLUSIONS: In the entire cohort of young women, low NO responsiveness and vitamin D deficiency are associated with low QUICKI, while elevated ADMA, inflammatory activation and obesity are selectively associated with low QUICKI in PCOS subjects; this may contribute to the increased cardiovascular risk associated with this syndrome.

Leiomyosarcoma of ovarian vein compression as a cause of hydronephrosis.

We present a case of leiomyosarcoma of the right ovarian vein with MRI findings. The patient was a 52-year-old woman who had suffered from right flank pain for one week. Abdominal ultrasound and excretory urography revealed hydronephrosis of the right kidney. Ureteroscopy showed external compression at the right upper third of the ureter. CT and MRI of the abdomen revealed a retroperitoneal mass with compression of the right ureter. The retroperitoneal mass proved on histology to be a leiomyosarcoma arising from the right ovarian vein.

Off-midline retroperitoneal choriocarcinoma presenting as neurologic symptoms.

A 28-year-old woman suffered from frequent headaches. She had a history of a dilatation and curettage for hydatidiform moles. This admission showed markedly elevated levels of human chorionic gonadotropin (hCG) and lactate dehydrogenase. Brain MRI showed a hemorrhagic mass in the left temporal area, with rapid growth. Histology of tumors obtained from multiple areas including retroperitoneum was consistent with choriocarcinoma.

Epithelioid leiomyosarcoma of the uterus: computed tomography findings.

Uterine epithelioid leiomyosarcoma is a rare neoplasm. There have been no previous reports describing computed tomography (CT) findings for this tumor. A 31-year-old woman presented with a heterogeneous enhancing mass, with internal septa, in the uterus, which was shown on CT images. Histological diagnosis was compatible with epithelioid leiomyosarcoma.