Hong Kong Medical Journal最新文献

{"title":"Incidental detection of maternal malignancy in non-reportable results from non-invasive prenatal testing: experience in Hong Kong and literature review.","authors":"Y Y Y Chan, S Xue, E L M Yu, W I Fong, L H Hoi, W B Lui, T K Lo, K W Choy, T Y Leung, Y Cao","doi":"10.12809/hkmj2513970","DOIUrl":"https://doi.org/10.12809/hkmj2513970","url":null,"abstract":"<p><strong>Introduction: </strong>Non-invasive prenatal testing (NIPT) for fetal aneuploidy occasionally yields non-reportable results due to persistent 'noisy' signals, which may indicate occult maternal malignancy. This study investigated the clinical and genetic implications of non-reportable NIPT results, focusing on multiple chromosomal aberrations associated with maternal malignancy, with the goal of developing standardised management protocols for pregnant women with such suspicious NIPT results.</p><p><strong>Methods: </strong>From 2020 to 2023, women with persistent non-reportable NIPT results were identified and followed up in Hong Kong. Cancer cases were analysed for clinical history and chromosomal patterns. Incidental cancer detection rates were calculated and compared with literature reports. Tag <i>Z</i>-score chromosomal abnormalities were compared between cancer and non-cancer groups; the corresponding sensitivity and specificity were calculated.</p><p><strong>Results: </strong>Among 84 446 NIPT tests, 151 (0.18%) showed persistent noisy signals. Of 131 patients with follow-up data, five (3.82%) were diagnosed with maternal malignancy; the overall incidental detection rate was 0.006% (5 of 84 446). Although three women delivered healthy babies, most presented with late-stage cancer confirmed by imaging and biopsy. All five cases exhibited ≥3 chromosomal aberrations on repeat NIPT; chromosome 18 was consistently involved. Univariate analysis revealed significant differences in Tag <i>Z</i>-score frequencies for chromosomes 18 (P=0.026) and 21 (P=0.029) between cancer and non-cancer groups. A clinical flowchart was developed to guide management of patients with multiple aberrations.</p><p><strong>Conclusion: </strong>Although rare, occult maternal malignancy represents 3.82% of non-reportable NIPT results. This risk should be included in pre-test counselling and may warrant early oncological evaluation. Whole-body magnetic resonance imaging should be considered to facilitate cancer diagnosis.</p>","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149240049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of virtual reality and music intervention on pain relief in outpatient hysteroscopy.","authors":"K M Yip, S S C Chan, E C W Cheung, L W Y Fung, A W T Sin, M S N Lam, Y T Y Wong, H H Y Leung","doi":"10.12809/hkmj2614795","DOIUrl":"https://doi.org/10.12809/hkmj2614795","url":null,"abstract":"<p><strong>Introduction: </strong>Outpatient hysteroscopy is an essential gynaecological procedure used to evaluate and treat any intrauterine pathologies. However, the most common reason for procedure failure is pain. This study aimed to evaluate the efficacy of virtual reality (VR) and music for pain management during outpatient hysteroscopy.</p><p><strong>Methods: </strong>This was a non-blinded randomised controlled trial conducted at a single tertiary hospital in Hong Kong. Eligible patients were randomised at a 1:1:1 ratio into three groups: VR, music, and control. Patients' pain scores were assessed using the Numerical Pain Rating Scale from 0 to 10 at various timepoints during hysteroscopy. The primary outcome was the maximum pain score during hysteroscopy. Secondary outcomes included pain scores at specific timepoints during hysteroscopy, other symptoms, patient satisfaction scores, and acceptance of undergoing future hysteroscopy in the same setting if needed.</p><p><strong>Results: </strong>A total of 210 patients were analysed in the study. Overall, 65.7% of patients underwent diagnostic hysteroscopy, and 34.3% underwent additional procedures. The mean maximum pain scores did not significantly differ among the three groups (P=0.131). However, acceptance of future hysteroscopy was significantly higher in both the music group (mean ± standard deviation: 8.8 ± 2.1; P=0.002) and the VR group (8.6 ± 1.6; P=0.009) than in the control group (7.5 ± 2.7; overall P=0.001).</p><p><strong>Conclusion: </strong>The use of VR and music during outpatient hysteroscopy did not result in a statistically significant reduction in pain. However, patient acceptance of future hysteroscopy was significantly improved in both intervention groups.</p>","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149231326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Computed tomography angiography with three-dimensional reconstruction for planning aortic valve replacement via right anterior mini-thoracotomy.","authors":"W Li, J Hu, W Gong, T Chen, C Zhang, R Zhang","doi":"10.12809/hkmj2513691","DOIUrl":"https://doi.org/10.12809/hkmj2513691","url":null,"abstract":"<p><strong>Introduction: </strong>This study explored the value of computed tomography angiography (CTA) with three-dimensional (3D) reconstruction in aortic valve replacement (AVR) via right anterior mini-thoracotomy.</p><p><strong>Methods: </strong>Clinical data were retrospectively collected from 168 patients who underwent AVR at our institution in China between 1 July 2018 and 1 September 2022. After 1:1 propensity score matching, the experimental group (right anterior mini-thoracotomy) and control group (median sternotomy) each comprised 43 patients. Patients in the experimental group underwent preoperative aortic CTA with 3D reconstruction to guide individualised selection of the intercostal incision site. Perioperative and clinical outcomes were compared between groups.</p><p><strong>Results: </strong>The experimental group had significantly lower 24-hour postoperative drainage volume and shorter mechanical ventilation time, intensive care unit stay, and total hospital stay than the control group (all P<0.001). No intraoperative conversion to median sternotomy or postoperative reoperation for bleeding or pericardial tamponade occurred in the experimental group. Postoperatively, five patients (11.6%) developed atelectasis or pulmonary infection, five (11.6%) developed pleural effusion, and five (11.6%) developed subcutaneous emphysema or pneumothorax; none required thoracentesis. Aortic cross-clamping and cardiopulmonary bypass times were approximately 8 minutes longer, respectively, in the experimental group. At 24 months, the incidence of the composite endpoint-including all-cause mortality, cardiocerebrovascular complications, and readmission for massive pleural effusion or coagulation dysfunction-did not differ significantly between groups.</p><p><strong>Conclusion: </strong>Preoperative CTA with 3D reconstruction enables accurate localisation of the right intercostal incision for AVR via right anterior mini-thoracotomy. This technique preserves minimally invasive surgery benefits and does not increase risks of mid/long-term adverse events.</p>","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149231239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective evaluation of first-trimester miscarriage following euploid embryo transfer.","authors":"C C W Chan, S Higo, Y Li, V C M Lam, A Y K Wong, M H K Chau, K M Choy","doi":"10.12809/hkmj2514251","DOIUrl":"https://doi.org/10.12809/hkmj2514251","url":null,"abstract":"<p><strong>Introduction: </strong>This study investigated the possible causes of first-trimester miscarriages after euploid embryo transfer from both genetic and maternal perspectives.</p><p><strong>Methods: </strong>Data were retrospectively collected from seven in-vitro fertilisation centres and two preimplantation genetic testing laboratories in Hong Kong. The study included patients who underwent preimplantation genetic testing for aneuploidy (PGT-A) between 2015 and 2024, followed by frozen-thawed single euploid embryo transfer resulting in confirmed clinical pregnancies that ended in miscarriage before 12 weeks of gestation. Baseline demographic data and, when available, genetic results for the products of gestation (POG) were reviewed.</p><p><strong>Results: </strong>In total, 1792 PGT-A cycles and 884 embryo transfers were performed. Sixty-five transfers resulted in clinical pregnancies that ended in miscarriage before 12 weeks of gestation. Genetic testing was conducted on 14 POG samples in this study. In one case, the PGT-A and POG results were discordant; mosaic trisomy 8 was detected only in the POG. No consistent pattern in maternal demographic factors was evident.</p><p><strong>Conclusion: </strong>Preimplantation genetic testing for aneuploidy appears effective; the majority of firsttrimester miscarriages after euploid embryo transfers are unlikely to be explained by discordant PGT-A results. Despite its high accuracy, PGT-A cannot detect all forms of chromosomal mosaicism and therefore cannot completely prevent miscarriage. Reviews of clinical and medical histories, along with cytogenetic testing of POG after a miscarriage following euploid embryo transfer in selected cases, may provide additional insights into possible contributing factors and future management options. The underlying cause may remain unexplained in many cases.</p>","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plexiform fibromyxoma of the stomach with <i>PIK3CA</i> mutation: a case report.","authors":"X Wei, Q Li, Y Wu, J Chen, Q Sun","doi":"10.12809/hkmj2513061","DOIUrl":"https://doi.org/10.12809/hkmj2513061","url":null,"abstract":"","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reninoma presenting as young-onset hypertension: a case report.","authors":"T H Shum, S M Hue","doi":"10.12809/hkmj2513773","DOIUrl":"https://doi.org/10.12809/hkmj2513773","url":null,"abstract":"","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic landscape of paediatric channelopathies and cardiomyopathies in Hong Kong.","authors":"S Y Kwok, H T Leung, J Z Shi, F Y Shih, R H S Chen, K S Lun, C M Mak, B H Y Chung, T C Yung, S S L Tsao","doi":"10.12809/hkmj2412186","DOIUrl":"https://doi.org/10.12809/hkmj2412186","url":null,"abstract":"<p><strong>Introduction: </strong>Cardiac channelopathies and cardiomyopathies are important causes of sudden cardiac death. The genetic background of these conditions in Asian paediatric populations has rarely been reported. This study aimed to report the genetic underpinnings of these conditions in patients treated at a single tertiary paediatric cardiac centre in Hong Kong.</p><p><strong>Methods: </strong>All patients diagnosed with cardiac channelopathy or cardiomyopathy who underwent genetic testing in our cardiology centre between 2007 and 2022 were included in this cohort study. Phenotype classification, genetic testing methodologies, and results were reviewed. Genetic yields were assessed.</p><p><strong>Results: </strong>In total, 165 probands were identified. Ninety-four probands carried at least one pathogenic or likely pathogenic (P/LP) variant (57.0%), whereas 27 probands (16.4%) had only variants of uncertain significance (VUS). Pathogenic or likely pathogenic variants were identified in 58 patients with channelopathy (63.7%) and 36 patients with cardiomyopathy (48.6%), including 22 novel variants (16 P/LP variants and 6 VUS). The yield of P/LP variants was highest in catecholaminergic polymorphic ventricular tachycardia (81.8%). The clinical features of selected probands with significant mortality or morbidity were described in relation to variant details. The yield of subsequent cascade genetic screening among first-degree relatives was 27.3%.</p><p><strong>Conclusion: </strong>This study describes the genetic landscape of paediatric cardiac channelopathies and cardiomyopathies at a single tertiary paediatric cardiology centre in Hong Kong. The findings facilitated genotype-guided management and enabled identification of at-risk family members for the prevention of sudden cardiac death.</p>","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149166747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hong Kong Academy of Medicine position statement on artificial intelligence in postgraduate medical education.","authors":"C C Y Tham, H Y So, C T Lui, D T M Chan, Y K Chan, W C Chang, D V K Chao, Y E Chee, Y F Cheung, P S K Chu, T N Leung, W K Leung, S M Mak, F C Pang, E W Y Wong, Y C Wong, C W Y Wu, H W Yung, L C N Chan, A K M Chan, P T Chan, N R Mahboobani, A K C Wai, P K T Li","doi":"10.12809/hkmj2615533","DOIUrl":"https://doi.org/10.12809/hkmj2615533","url":null,"abstract":"","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"More than a guideline developer: the role of the Institute for Medical Advancement and Clinical Excellence (IMACE) in a system of fragmented governance.","authors":"G K K Leung, R M K Lam, P W Y Chiu, P K T Li, W S W Ho, H Y Lee, C S Lau, F C Pang","doi":"10.12809/hkmj265199","DOIUrl":"https://doi.org/10.12809/hkmj265199","url":null,"abstract":"","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149117169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Langerhans cell histiocytosis with isolated multifocal intestinal ulcerations in an adult: a case report.","authors":"Y Xiong, C Peng, Y Tian, Y Deng, Y Ao, Y Gao","doi":"10.12809/hkmj2513494","DOIUrl":"https://doi.org/10.12809/hkmj2513494","url":null,"abstract":"","PeriodicalId":48828,"journal":{"name":"Hong Kong Medical Journal","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148867563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}