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Fulltext Cardiac mass in a patient with sigmoid adenocarcinoma: a metastasis?

Ngow HA, Khairina WM

Cardiovasc J Afr, 2012 Aug;23(7):e10-2.
PMID: 22915057 DOI: 10.5830/CVJA-2012-027

Cardiac metastasis from a bowel malignancy seldom occurs and there is a limited number of case reports published on this subject. Although colorectal cancer is the third commonest malignancy in Malaysia, the incidence of cardiac metastasis has never been reported. We report a case of an elderly man with recently diagnosed adenocarcinoma of the sigmoid colon, who presented with congestive cardiac failure secondary to mechanical obstruction by a right atrial mass. The intractable shock led to his sudden death before any intervention could be planned. If an intra-cavity cardiac mass is detected in a patient with an underlying metastatic malignancy, cardiac metastasis should be suspected. However, primary cardiac tumour or thrombus could also be the differential diagnosis. In our case, the definitive cardiac pathology remained unsolved as an autopsy was refused.
Cardiac metastasis: a rare involvement of primitive neuroectodermal tumour of the lung

Ngow HA, Wan Khairina WM

Pathol Oncol Res, 2011 Sep;17(3):771-4.
PMID: 21213128 DOI: 10.1007/s12253-010-9328-9

A 15 year-old adolescent was referred with 2 month history of worsening of breathlessness and haemoptysis. He also reported constitutional symptoms of fever, poor appetite and weight loss. The chest roentgenogram showed a massive right pleural effusion with apparent cardiomegaly. The cardiac silhouette over the right heart border was obliterated and the mediastinum was widened. Computed tomogram of the thorax showed a bulky heterogeneous mass in the right lung with extension to the heart. Subsequent CT guided lung biopsy revealed Primitive Neuroectodermal tumour (PNET). Here, we illustrate the clinical course of an aggressive pulmonary PNET with lethal cardiac metastasis.
Right atrial tuberculoma: a diagnosis too late

Ngow HA, Khairina WM

Cardiol J, 2011;18(5):560-3.
PMID: 21947994

Solitary intra-cardiac cavity tuberculoma is extremely rare and often only diagnosed during a post-mortem. We report a case of right atrial tuberculoma causing right atrial outflow tract obstruction in an immune-compromised man. The diagnosis of cardiac tuberculoma was made through the detection of mycobacterium tuberculosis DNA by tuberculosis-polymerase chain reaction in the pericardial fluid. The patient succumbed five days after admission but an autopsy was refused by his family.
Fulltext An unsual finding of brain magnetic resonance imaging in a hypertensive patient

Ngow HA, Wan Khairina WM, Hamidon BB

Neurol Int, 2009;1(1):e3.
PMID: 21577361 DOI: 10.4081/ni.2009.e3

Brain edema in patients with hypertensive encephalopathy frequently affects the parietooccipital white matter. Hypertensive encephalopathy is thus included as a differential diagnosis in reversible posterior leukoencephalopathy syndrome. Diffuse white matter involvement rarely occurs. We report a 41-year old woman with hypertensive encephalopathy with diffuse and non-enhancing white matter hyper-intensities throughout the whole brain on magnetic resonance imaging (MRI). These hyperintensities spared the grey matter on T2-weighted and FLAIR sequence. These unusual finding on brain MRI was attributed to severe vasogenic cerebral edema resulting from accelerated hypertension.
Development of the HIV360 international core set of outcome measures for adults living with HIV: A consensus process

Marques-Gomes J, Salt MJ, Pereira-Neto R, Barteldes FS, Gouveia-Barros V, Carvalho A, et al.

HIV Med, 2021 Dec 28.
PMID: 34964226 DOI: 10.1111/hiv.13221

OBJECTIVES: HIV outcomes centre primarily around clinical markers with limited focus on patient-reported outcomes. With a global trend towards capturing the outcomes that matter most to patients, there is agreement that standardizing the definition of value in HIV care is key to their incorporation. This study aims to address the lack of routine, standardized data in HIV care.
METHODS: An international working group (WG) of 37 experts and patients, and a steering group (SG) of 18 experts were convened from 14 countries. The project team (PT) identified outcomes by conducting a literature review, screening 1979 articles and reviewing the full texts of 547 of these articles. Semi-structured interviews and advisory groups were performed with the WG, SG and people living with HIV to add to the list of potentially relevant outcomes. The WG voted via a modified Delphi process - informed by six Zoom calls - to establish a core set of outcomes for use in clinical practice.
RESULTS: From 156 identified outcomes, consensus was reached to include three patient-reported outcomes, four clinician-reported measures and one administratively reported outcome; standardized measures were included. The WG also reached agreement to measure 22 risk-adjustment variables. This outcome set can be applied to any person living with HIV aged > 18 years.
CONCLUSIONS: Adoption of the HIV360 outcome set will enable healthcare providers to record, compare and integrate standardized metrics across treatment sites to drive quality improvement in HIV care.
Fulltext Towards complete and error-free genome assemblies of all vertebrate species

Rhie A, McCarthy SA, Fedrigo O, Damas J, Formenti G, Koren S, et al.

Nature, 2021 Apr;592(7856):737-746.
PMID: 33911273 DOI: 10.1038/s41586-021-03451-0

High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1-4. To address this issue, the international Genome 10K (G10K) consortium5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences.