OBJECTIVE. To review clinical characteristics, imaging modalities, and treatment outcomes of patients referred to a multidisciplinary clinic for management of vascular malformations.

DESIGN. Retrospective case series. SETTING. Multidisciplinary vascular malformation out-patient referral clinic in a teaching hospital in Hong Kong.

PATIENTS. The 141 attendees of the clinic from August 2005 to November 2011.

MAIN OUTCOME MEASURES. Management and treatments offered, and responses to treatment.

RESULTS. Of the 141 patients, 46% were diagnosed to have low-flow vascular malformations, 16% were diagnosed to have high-flow vascular malformations, and 15% were diagnosed to have a haemangioma. Prior to attending the clinic, approximately one third (32%) of the patients had a clinical diagnosis that was consistent with the final diagnosis. Overall, the radiological and clinical diagnoses were consistent in 43% of the patients. Magnetic resonance imaging and ultrasonography were the most commonly used imaging modalities. Of the 73 patients who received active treatment, 70% had a good response, 12% had minimal improvement, 8% had no change, and 7% had a recurrence or a major complication; in 3% of the patients the outcome was unknown.

CONCLUSION. From this retrospective case series, it is evident that confusion still exists over vascular malformations and haemangiomas. Multidisciplinary clinics have a role in providing an accurate diagnosis and facilitating appropriate management and treatment plans. Magnetic resonance imaging and ultrasonography had demonstrable utility in determining the extent of the lesions and flow type.

Key words: Hemangioma; Patient care team; Port-wine stain

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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.

Key words: Down syndrome; First trimester screening; Second trimester screening; Nuchal translucency; Quality control

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OBJECTIVES. To investigate the pattern of malignancies in Chinese patients with neurofibromatosis type 1.

DESIGN. Historical cohort study.

SETTING. Queen Mary Hospital and Duchess of Kent Children’s Hospital in Hong Kong.

PATIENTS. Patients with neurofibromatosis type 1 seen between January 1995 and August 2011.

RESULTS. We identified 123 Chinese patients with neurofibromatosis type 1, diagnosed at a median age of 4.9 years (range, 0.1-16.1 years); 75 (61%) were males. They were followed up for a median of 9.7 years (range, 0.2-27.6 years). Most (80%) of the patients participated in our surveillance programme. Twelve patients developed malignancies at the ages of 0.8 to 41.6 years. These malignancies included: peripheral nerve sheath tumours (n=3), juvenile myelomonocytic leukaemia (n=2), optic nerve glioma (n=1), thalamic pilocytic astrocytoma (n=1), rhabdomyosarcoma (n=1), osteosarcoma (n=1), neuroblastoma (n=1), anaplastic large cell lymphoma (n=1), and breast carcinoma and subsequently carcinoma of the ampulla of Vater (n=1). Among them, three had their tumours (optic glioma, thalamic astrocytoma, sacral malignant peripheral nerve sheath tumour) initially detected by surveillance imaging. Four patients survived without disease progression, three are alive with active disease, the remaining five died (when aged 3 to 56 years) with progressive or relapsed malignancies. The latter patients died from a neuroblastoma, a juvenile myelomonocytic leukaemia, a malignant peripheral nerve sheath tumour, a lymphoma, and a second primary tumour (carcinoma of ampulla of Vater, at the age of 56 years). In neurofibromatosis type 1 patients with malignancy, overall 30-year survival was significantly shorter than in those without malignancy (35% vs 93%, P<0.001).

CONCLUSION. Chinese patients with neurofibromatosis type 1 are susceptible to different malignancies which contribute to mortality. These findings are similar to reports from overseas. Outcomes were unfavourable, except in patients having low-grade gliomas. Surveillance imaging may help early detection of deep-seated malignancies but the benefits accruing from such monitoring warrants prospective evaluation.

Key words:Child; Hong Kong; Neoplasms; Neurofibromatosis 1

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OBJECTIVES. To study patients’ perceptions and knowledge about total joint replacement surgery.

DESIGN. Cross-sectional survey.

SETTING. University teaching hospital, Hong Kong.

PATIENTS. Three hundred consecutive patients with the diagnosis of osteoarthritis or inflammatory arthritis attending the out-patient clinic from June 2010 to May 2011.

MAIN OUTCOME MEASURES. Patients’ knowledge and how they got the knowledge about total joint replacement surgery, and concerns about the outcome of such operations.

RESULTS. Whilst 94% of the patients knew about total joint replacement surgery, 77% obtained such knowledge from their friends and relatives. The three most common concerns related to this type of operation were whether they might: be wheelchair bound after surgery (64%), need to be taken care of by others for more than 3 months (61%), and have post-surgery complications (54%). Most of them recognised the advantages of the surgery, 82% knew about good pain relief after surgery, and 87% realised that total joint replacement surgery could improve their mobility. Patients did not have a realistic idea regarding the survival of the prosthesis; 41% thought the prosthesis might last for less than 10 years and 34% had no idea about its longevity.

CONCLUSION. Patients did recognise the advantages of total joint replacement surgery in treating arthritis. However, they had many concerns about its outcome that warrant clarification. Public education on these aspects is necessary to address concerns, and may be achieved in cooperation with the media.

Key words:Arthroplasty, replacement, knee; Knee joint; Knee prosthesis; Postoperative complications; Treatment outcome

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OBJECTIVES. To investigate the diagnostic performance and safety of endobronchial ultrasound-guided transbronchial needle aspiration in patients presenting with radiological features of lung cancer.

DESIGN. Prospective case series.

SETTING. University teaching hospital, Hong Kong.

PATIENTS. Consecutive patients with mediastinal or hilar abnormalities suspected of or confirmed as having lung cancer underwent endobronchial ultrasound-guided transbronchial needle aspiration and presented between August 2006 and December 2010.

MAIN OUTCOME MEASURES. Diagnostic performance (including sensitivity, specificity, negative predictive value and accuracy), procedural complications, and tissue adequacy for molecular profiling.

RESULTS. A total of 269 procedures were performed in 259 patients, with malignancy confirmed in 210 (81%) of them. In the whole cohort with confirmed or suspected lung cancer, the overall sensitivity, specificity, negative predictive value, and accuracy of endobronchial ultrasound-guided transbronchial needle aspiration were 87%, 100%, 74%, and 91%, respectively. Among 42 patients with tumour samples sent for mutation tests (epidermal growth factor receptor and/or anaplastic lymphoma kinase), 40 (95%) were found to be adequate. No complication or mortality ensued from these procedures.

CONCLUSION. Endobronchial ultrasound-guided transbronchial needle aspiration is highly effective in determining the diagnosis and lymph node staging in patients with lung cancer. In combination with its excellent safety profile, it should be considered a frontline diagnostic test for patients presenting with mediastinal abnormalities suspicious of lung cancer.

Key words:Biopsy, fine-needle; Bronchoscopy; Lung neoplasms; Neoplasm staging; Sensitivity and specificity

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