Medicine and Health Sciences Commons^™

Impact Of Biobanks On Research Outcomes In Rare Diseases: A Systematic Review, Monique Garcia, Jenny Downs, Alyce Russell, Wei Wang

Research outputs 2014 to 2021

BACKGROUND: Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases.

METHODS: A systematic review and meta-aggregation was conducted using the preferred reporting items for systematic reviews and meta-analyses (the PRISMA statement). English language publications were sourced from PubMed, Medline, Scopus, and Web of Science. Original research papers that reported clinical, epidemiological, basic or translational research findings derived from data contained in stand-alone registries, registries with biobanks, …

The Association Between Subclass-Specific Igg Fc N-Glycosylation Profiles And Hypertension In The Uygur, Kazak, Kirgiz, And Tajik Populations, J. N. Liu, Mamatyusupu Dolikun, Jerko Štambuk, Irena Trbojević-Akmačić, J. Zhang, Hao Wang, D. Q. Zheng, X. Y. Zhang, H. L. Peng, Z. Y. Zhao, D. Liu, Yang Sun, Q. Sun, Q. H. Li, J. X. Zhang, Ming Sun, W. J. Cao, Ana Momčilović, Genadij Razdorov, L. J. Wu, Alyce Russell, Y. X. Wang, Song Manshu, Gordan Lauc, Wei Wang

Research outputs 2014 to 2021

Hypertension results from the interaction of genetic and acquired factors. IgG occurs in the form of different subclasses, of which the effector functions show significant variation. The detailed differences between the glycosylation profiles of the individual IgG subclasses may be lost in a profiling method for total IgG N-glycosylation. In this study, subclass-specific IgG Fc glycosylation profile was investigated in the four northwestern Chinese minority populations, namely, Uygur (UIG), Kazak (KZK), Kirgiz (KGZ), and Tajik (TJK), composed of 274 hypertensive patients and 356 healthy controls. The results showed that ten directly measured IgG N-glycan traits (i.e., IgG1G0F, IgG2G0F, IgG2G1FN, IgG2G1FS, …

Design Of A Framework For The Deployment Of Collaborative Independent Rare Disease-Centric Registries: Gaucher Disease Registry Model, Matthew I. Bellgard, Kathryn R. Napier, Alan Bittles, Jeffrey Szer, Sue Fletcher, Nikolajs Zeps, Adam A. Hunter, Jack Goldblatt

Research outputs 2014 to 2021

Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that these patient data be captured with limited corporate involvement. For some time, there have been calls to develop collaborative, non-proprietary, patient-centric registries for post-market surveillance of aspects related to orphan drug efficacy. There is an urgent need for the development and sustainable deployment of these ‘independent’ registries that can capture comprehensive clinical, genetic and therapeutic information on patients with rare diseases. We therefore …

Evaluation Of Individual And Combined Markers Of Urine Dipstick Parameters And Total Lymphocyte Count As A Substitute For Cd4 Count In Low-Resource Communities In Ghana, Enoch Odame Anto, Christian Obirikorang, Emmanuel Acheampong, Bright Amankwaa, Bright Oppong Afranie, Sampson Donkor, Isaac Hope, Juliana Jommo, Esther Osaah

Research outputs 2014 to 2021

We evaluated the individual and combined levels of urine dipstick and total lymphocyte count (TLC) as surrogate markers for CD4 count in a low-resource community in Ghana. This cross-sectional study recruited 200 HIV-infected patients from the Saint Francis Xavier Hospital, Assin Fosu, Ghana. Complete blood count, CD4 count, and urine dipstick analysis were measured for participants. The threshold values were determined as/

Flavonoid-Rich Apple Improves Endothelial Function In Individuals At Risk For Cardiovascular Disease: A Randomized Controlled Clinical Trial, Nicola P. Bondonno, Catherine P. Bondonno, Lauren C. Blekkenhorst, Michael J. Considine, Ghassan Maghzal, Roland Stocker, Richard J. Woodman, Natalie C. Ward, Jonathan M. Hodgson, Kevin D. Croft

Research outputs 2014 to 2021

Scope

The cardioprotective effects of apples are primarily attributed to flavonoids, found predominantly in the skin. This study aimed to determine if acute and/or chronic (4 weeks) ingestion of flavonoid-rich apples improves endothelial function, blood pressure (BP), and arterial stiffness in individuals at risk for cardiovascular diseases (CVD).

Methods and results

In this randomized, controlled cross-over trial, acute and 4 week intake of apple with skin (high flavonoid apple, HFA) is compared to intake of apple flesh only (low flavonoid apple, LFA) in 30 participants. The primary outcome is endothelial function assessed using flow-mediated dilation (FMD) of the brachial artery, …

Ischemic Stroke Is Associated With The Pro-Inflammatory Potential Of N-Glycosylated Immunoglobulin G, Di Liu, Zhongyao Zhao, Anxin Wang, Siqi Ge, Hao Wang, Xiaoyu Zhang, Qi Sun, Weijie Cao, Ming Sun, Lijuan Wu, Manshu Song, Yong Zhou, Wei Wang, Youxin Wang

Research outputs 2014 to 2021

Background

Glycosylation significantly affects protein structure and function and thus participates in multiple physiologic and pathologic processes. Studies demonstrated that immunoglobulin G (IgG) N-glycosylation associates with the risk factors of ischemic stroke (IS), such as aging, obesity, dyslipidemia, type 2 diabetes, and hypertension.

Methods

The study aimed to investigate the association between IgG N-glycosylation and IS in a Chinese population. IgG glycome composition in patients with IS (n = 78) and cerebral arterial stenosis (CAS) (n = 75) and controls (n = 77) were analyzed by ultra-performance liquid chromatography.

Results

Eleven initial glycans and 10 …

Time On Androgen Deprivation Therapy And Adaptations To Exercise: Secondary Analysis From A 12-Month Randomized Controlled Trial In Men With Prostate Cancer, Dennis R. Taaffe, Laurien M. Buffart, Robert U. Newton, Nigel Spry, James Denham, David Joseph, David Lamb, Suzanne K. Chambers, Daniel A. Galvao

Research outputs 2014 to 2021

Objectives

To explore if duration of previous exposure to androgen deprivation therapy (ADT) in men with prostate cancer (PCa) undertaking a year-long exercise programme moderates the exercise response with regard to body composition and muscle performance, and also to explore the moderator effects of baseline testosterone, time since ADT, and baseline value of the outcome.

Patients and Methods

In a multicentre randomized controlled trial, 100 men who had previously undergone either 6 months (short-term) or 18 months (long-term) of ADT in combination with radiotherapy, as part of the TROG 03.04 RADAR trial, were randomized to 6 months supervised exercise, followed …

Epidemiological Model Of The Transmission And Spread Of Hepatitis B Pandemic In Ghana, Kwaafo Akoto Awuah-Mensah

Theses: Doctorates and Masters

The world's attention to the burden and spread of hepatitis B has increased signicantly in the recent past. A number of interventions by way of treatment and immunisation have been initiated to fight the pandemic, especially in high prevalence regions such as Africa and Asia. Lack of good quality information about hepatitis B is a major hindrance to policy direction and comprehensive implementation of interventions in Sub-Saharan Africa designated as an endemic region. Limited studies on hepatitis B, coupled with lack of adequate health care systems and infrastructure, have led to ignorance or misconceptions and stigmatisation about the disease and …

The Utility Of Multidisciplinary Rehabilitation As A Treatment Strategy For Circadian Rhythm And Sleep Disturbances In Premanifest Huntington’S Disease, Danielle Megan Bartlett

Theses: Doctorates and Masters

Background: Huntington’s disease (HD) is a rare, neurodegenerative disease caused by an expanded cytosine-adenine-guanine (CAG) sequence in the Huntingtin gene, resulting in the production of an aberrant protein, mutant huntingtin (mHTT). The mHTT protein exhibits a toxic loss and gain in function, leading to degeneration of neurons in the brain. Consequently, the classic triad of motor, cognitive and mood features of the disease develop. Among the earliest features of HD are circadian rhythm and sleep disturbances. These anomalies present many years prior to formal clinical diagnosis of HD and, while it has been postulated that these disturbances arise as a …

Colorectal Cancer Survival Rates In Ghana: A Retrospective Hospital-Based Study, Francis Agyemang-Yeboah, Joseph Yorke, Christian Obirikorang, Emmanuella Nsenbah Batu, Emmanuel Acheampong, Emmanuel Amankwaa Frimpong, Enoch Odame Anto, Bright Amankwaa

Research outputs 2014 to 2021

BACKGROUND: Colorectal cancer (CRC) is one of the commonest cancers associated with diverse prognosis times in different parts of the world. Despite medical interventions, the overall clinical outcomes and survival remains very poor for most patients in developing countries. This study therefore investigated the survival rate of colorectal cancer and its prognostic factors among patients at Komfo Anokye Teaching Hospital, Ghana.

METHODOLOGY: In this retrospective cohort study, a total of 221 patients diagnosed with CRC from 2009 to 2015 at the Surgical and Oncological units of Komfo Anokye Teaching Hospital (KATH), Kumasi, Ghana were employed. The survival graphs were obtained …

Robotic Arm Rehabilitation In Chronic Stroke Patients With Aphasia May Promote Speech And Language Recovery (But Effect Is Not Enhanced By Supplementary Tdcs), Adam Buchwald, Carolyn Falconer, Avrielle Rykman-Peltz, Mar Cortes, Alvaro Pascual-Leone, Gary W. Thickbroom, Hermano Igo Krebs, Felipe Fregni, Linda M. Gerber, Clara Oromendia, Johanna Chang, Bruce T. Volpe, Dylan J. Edwards

Research outputs 2014 to 2021

Objective: This study aimed to determine the extent to which robotic arm rehabilitation for chronic stroke may promote recovery of speech and language function in individuals with aphasia.

Methods: We prospectively enrolled 17 individuals from a hemiparesis rehabilitation study pairing intensive robot assisted therapy with sham or active tDCS and evaluated their speech (N = 17) and language (N = 9) performance before and after a 12-week (36 session) treatment regimen. Performance changes were evaluated with paired t-tests comparing pre- and post-test measures. There was no speech therapy included in the treatment protocol.

Results: Overall, the individuals …