ORCID Profile
0000-0002-2529-5330
Current Organisations
UNSW Sydney
,
Liverpool Hospital
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Publisher: Springer Science and Business Media LLC
Date: 16-11-2022
DOI: 10.1038/S41380-022-01852-9
Abstract: Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride roton 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 databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a “shift” of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 in iduals from 67 families with CLCN4 -related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for in iduals with this diagnosis.
Publisher: Lupus Foundation of America
Date: 03-2018
Publisher: BMJ Publishing Group Ltd and European League Against Rheumatism
Date: 06-2019
Publisher: SAGE Publications
Date: 02-08-2020
Abstract: 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 FM in patients with SLE during routine consultations. Patients with SLE completed an MDHAQ. FM status was determined by the validated 2016 revision of the ACR 2010/2011 preliminary FM criteria. In idual PROs from the MDHAQ and composite Fibromyalgia Assessment Tool (FAST) indices of the discriminatory PROs were compared between patients with and without FM using Student’s unpaired t-test and receiver operating characteristic curve analysis to determine the area under the curve (AUC). The physician’s clinical impression of FM was recorded, and the SLE Disease Activity Index was used to assess disease activity. Of 88 patients with SLE, 23 (26%) satisfied the 2016 FM criteria. The FAST3 composite measure of two out of three of pain (≥6/10), joint count (≥16/48) and symptom checklist (≥16/60) correctly classified 89% of patients (AUC=0.90, kappa=0.71). Physician diagnosis demonstrated moderate agreement with the 2016 FM criteria (kappa=0.43) but missed 43% of patients with FM. In the presence of active disease, the FAST3 correctly classified 91% of patients. Co-morbid FM is prevalent in SLE yet often underdiagnosed by physicians. The simple FAST3 index of the MDHAQ provides an easy-to-use self-reported tool to improve identification of FM in patients with SLE.
Publisher: SAGE Publications
Date: 29-08-2018
Abstract: 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 an overview of the recent literature examining the association between vitamin D and fatigue in patients with SLE. Finally, the role of vitamin D supplementation in the treatment of SLE-related fatigue is considered.
Publisher: Wiley
Date: 29-10-2021
DOI: 10.1111/IMJ.15112
Abstract: 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 and an association with lipophilic Corynebacterium species is observed. Initial diagnosis is often delayed due to lack of awareness of the condition and management of refractory disease can be challenging. We present an extensive case series of patients collaboratively managed by subspecialty physicians and surgeons at a single centre in Sydney, Australia. The accompanying review expands on features of this condition and supports the utility of a multidisciplinary approach.
Publisher: MDPI AG
Date: 23-08-2021
DOI: 10.3390/JCM10163754
Abstract: 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 different characteristics of the commonly used PRO tools. There are now several well-validated generic and SLE-specific tools that have demonstrated utility in clinical trials and several tools that complement activity and damage measures in the clinical setting. PRO tools may help overcome physician–patient discordance in SLE and are valuable in the assessment of fibromyalgia and type 2 symptoms such as widespread pain and fatigue. Future work will identify optimal PRO tools for different settings but, despite current limitations, they are ready to be incorporated into patient care.
No related grants have been discovered for Matthew Huu Nguyen.