Matthew Huu Nguyen- BMedSc | BSc(Hons1) | MD
- Adjunct Lecturer at UNSW Sydney
Matthew Huu Nguyen
- BMedSc | BSc(Hons1) | MD
- Adjunct Lecturer at UNSW Sydney
About
11
Publications
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Introduction
I am a Medical Doctor with a background in Internal Medicine and Pathology. My research interests include Nutritional Pathology, Inflammatory Disorders, Genomics, Education and QoL assessment in chronic diseases. I have established and coordinated several rare disease research cohorts. The goals of my projects are largely focused on raising awareness of rare diseases but also improving diagnosis, management and QoL assessment of complex biochemical, inflammatory and genomic disorders.
Current institution
Additional affiliations
March 2020 - December 2022
June 2016 - present
Education
January 2023 - December 2025
July 2016 - November 2020
March 2014 - November 2016
Publications
Publications (11)
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant datab...
Clinical characteristics: CLCN4-related neurodevelopmental disorder (CLCN4-NDD), an X-linked disorder, is characterized in the 36 males reported to date by developmental delay or intellectual disability, behavioral/mental health issues (e.g., autism spectrum disorder, anxiety, hyperactivity, and bipolar disorder), epilepsy, and gastrointestinal dys...
Idiopathic granulomatous mastitis is a chronic inflammatory breast disorder that typically affects young, parous women, often following lactation. Patients present with tender, erythematous breast lesions with histological evidence of non‐caseating granulomata and an inflammatory cell infiltrate. An immune‐mediated pathophysiology is hypothesised a...
Patient-reported outcome (PRO) instruments are widely used to assess quality of life in Systemic Lupus Erythematosus (SLE) research, and there is growing evidence for their use in clinical care. In this review, we evaluate the current evidence for their use in assessing quality of life in SLE in both research and clinical settings and examine the d...
Objective
Fibromyalgia (FM) is prevalent but often under-recognized in patients with systemic lupus erythematosus (SLE). Patient-reported outcomes (PROs) from the Multi-Dimensional Health Assessment Questionnaire (MDHAQ) can identify co-morbid FM in patients with rheumatic diseases. The present study examined the utility of the MDHAQ in recognizing...
Background
Fibromyalgia (FM) is disproportionately common in patients with systemic lupus erythematosus (SLE) and difficult to diagnose on a background of classical SLE symptoms [1]. The Multi-Dimensional Health Assessment Questionnaire (MDHAQ) has been shown to be useful to recognise improvement over 2 months in a variety of rheumatic conditions i...
Background
Fibromyalgia (FM) and systemic lupus erythematosus (SLE) are both characterised by non-specific symptoms such as pain and fatigue. To make diagnosis even more challenging, fibromyalgia is overrepresented in the SLE population.
Objectives
To identify which symptoms can discriminate between patients with comorbid FM and patients without c...
OBJECTIVES:
Fatigue remains a debilitating feature of systemic lupus erythematosus (SLE). Although in some cases this may be the result of intercurrent fibromyalgia, mood disorder or untreated metabolic syndrome, in many cases the cause is unclear. The aim of this study was to investigate the relationship between fatigue and red cell distribution w...
Fatigue is a common, disabling problem that is highly prevalent in patients with systemic lupus erythematous (SLE). More recently, vitamin D status has been established as a potential contributor to SLE pathogenesis and manifestations, in particular fatigue. This review summarizes the literature regarding the role of vitamin D in SLE, and provides...
Background
80%–90% of patients with SLE report fatigue to be the single most debilitating symptom of their disease. Functional Iron Deficiency (FID), a state of inefficient iron utilisation, has recently been linked with fatigue in a number of conditions. Red Blood Cell Distribution Width (RDW) is a convenient marker of FID.
Purpose
To study the r...
