DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by the involuntary co-contraction of agonistic and antagonistic muscles. The disease is caused by mutations in the THAP1 gene, although the precise mechanisms by which these mutations contribute to the pathophysiology of dystonia remain unclear. The incomplete penetrance of DYT-THAP1 dystonia, estimated at 40 to 60 %, suggests that an environmental trigger may be required for the manifestation of the disease in genetically predisposed individuals.
View Article and Find Full Text PDFObjective: To evaluate the feasibility, acceptability and efficacy of an Acceptance and Commitment Therapy-based Lifestyle Counselling Program (ACT-LCP) on health outcomes of individuals with early psychosis.
Methods: In this assessor-blinded, parallel-group pilot randomized controlled trial, 72 early psychosis patients (mean age [SD] = 30.51 [8.
NPJ Parkinsons Dis
November 2024
Deep brain stimulation (DBS) is an established treatment for motor disorders like Parkinson's disease, but its mechanisms and effects on neurons and networks are not fully understood, limiting research-driven progress. This review presents a framework that combines neurophysiological insights and translational research to enhance DBS therapy, emphasizing biomarkers, device technology, and symptom-specific neuromodulation. It also examines the role of animal research in improving DBS, while acknowledging challenges in clinical translation.
View Article and Find Full Text PDFImmune dysregulation in the brain and periphery is thought to contribute to the detrimental neurodegeneration that occurs in Parkinson's disease (PD). Identifying mechanisms to reverse this dysregulation is key to developing disease-altering therapeutics for this currently incurable disease. Here we utilized the longitudinal data from the Parkinson's Progression Marker Initiative to demonstrate that circulating lymphocytes progressively decline in PD and can be used to predict future motor symptom progression.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
October 2024
In addition to their motor symptoms, almost all Parkinson's disease patients report non-motor symptoms (NMS) and, in the later course of the disease, non-motor fluctuations as well. These NMS encompass e.g.
View Article and Find Full Text PDFBackground: Health disparities among ethnic minority and migrant women can lead to adverse maternal and neonatal outcomes. This study explores the maternity care experiences of South Asian women in Hong Kong, providing insights for woman-centred and culturally responsive care in the East Asia.
Objective: To understand South Asian women's views and experiences regarding maternity care services in Hong Kong.
Background: Brain serotonin 4 receptor (5-HTR) levels are lower in untreated patients with major depressive disorder (MDD) and are linked to verbal memory. Here, we investigated the relationship between 5-HTR levels, clinical outcomes, and cognitive function in patients with MDD who initiated selective serotonin reuptake inhibitor drug treatment.
Methods: Ninety patients with moderate to severe depression underwent molecular brain imaging to measure 5-HTR binding prior to antidepressant treatment with escitalopram.
Deep brain stimulation (DBS) has emerged as a revolutionary technique for accessing and modulating brain circuits. DBS is used to treat dysfunctional neuronal circuits in neurological and psychiatric disorders. Despite over two decades of clinical application, the fundamental mechanisms underlying DBS are still not well understood.
View Article and Find Full Text PDFBackground: This study aimed to evaluate the discriminatory performance of 11 vital sign-based early warning scores (EWSs) and three shock indices in early sepsis prediction in the emergency department (ED).
Methods: We performed a retrospective study on consecutive adult patients with an infection over 3 months in a public ED in Hong Kong. The primary outcome was sepsis (Sepsis-3 definition) within 48 h of ED presentation.
Tremor is one of the most common neurological symptoms. Its clinical and neurobiological complexity necessitates novel approaches for granular phenotyping. Instrumented neurophysiological analyses have proven useful, but are highly resource-intensive and lack broad accessibility.
View Article and Find Full Text PDFDystonia is a neurological movement disorder characterised by abnormal involuntary movements and postures, particularly affecting the head and neck. However, current clinical assessment methods for dystonia rely on simplified rating scales which lack the ability to capture the intricate spatiotemporal features of dystonic phenomena, hindering clinical management and limiting understanding of the underlying neurobiology. To address this, we developed a visual perceptive deep learning framework that utilizes standard clinical videos to comprehensively evaluate and quantify disease states and the impact of therapeutic interventions, specifically deep brain stimulation.
View Article and Find Full Text PDFBackground: Recent data reveal a marked rise in the detection and mortality rates of Desmoplastic Malignant Melanoma (DMM). This trend underscores the imperative for an in-depth analysis of DMM's epidemiology, which is crucial for the formulation of precise medical and public health strategies. This investigation seeks to elucidate the variations in the incidence and mortality of DMM over a 15-year period (2005-2019).
View Article and Find Full Text PDFUltrathin topological insulator membranes are building blocks of exotic quantum matter. However, traditional epitaxy of these materials does not facilitate stacking in arbitrary orders, while mechanical exfoliation from bulk crystals is also challenging due to the non-negligible interlayer coupling therein. Here we liberate millimeter-scale films of the topological insulator BiSe, grown by molecular beam epitaxy, down to 3 quintuple layers.
View Article and Find Full Text PDFPupillary assessment is a quintessential part of the clinical examination in neuro-intensive care patients because it provides insight into the integrity of midbrain reflex arcs. Abnormal pupils, particularly anisocoria and later bilateral fixed mydriasis, are classically used to assess expansive intracranial processes because they are frequently considered early indicators of transtentorial midbrain compression due to elevated intracranial pressure. Complex ocular motor deficits mapping to the midbrain are rarely described in the setting of high transtentorial pressure.
View Article and Find Full Text PDFWe focused on the production of docosahexaenoic acid (DHA)-containing microbial lipids by Aurantiochytrium sp. using of defatted soybean (DS) as a nitrogen source. Defatted soybean is a plant biomass that could provide a sustainable supply at a low cost.
View Article and Find Full Text PDFOral Surg Oral Med Oral Pathol Oral Radiol
February 2024
Objective: We aimed to investigate the diagnostic efficacy of ultrasonography (US) using gray scale B-mode and ultrasound elastography (UE) in detecting myofascial trigger points (MTPs) in the masseter muscles of patients with myogenous temporomandibular disorder (TMD).
Study Design: A diagnostic cross-sectional study of patients with MTPs in the masseter muscles using US was conducted. The diagnostic results from the US examinations were compared with the clinical examination reference standard to determine the diagnostic efficacy of US.
DYT-TOR1A (DYT1) dystonia, characterized by reduced penetrance and suspected environmental triggers, is explored using a "second hit" DYT-TOR1A rat model. We aim to investigate the biological mechanisms driving the conversion into a dystonic phenotype, focusing on the striatum's role in dystonia pathophysiology. Sciatic nerve crush injury was induced in ∆ETorA rats, lacking spontaneous motor abnormalities, and wild-type (wt) rats.
View Article and Find Full Text PDFThis cross-sectional epidemiological study aimed to describe dental caries and oral hygiene conditions among visually impaired students in Hong Kong. Students aged 6-21 years from two specialised schools for those with vision impairment were invited. Information on sociodemographic background and oral health-related behaviours was collected through an online parent-reported questionnaire.
View Article and Find Full Text PDFCurr Opin Gastroenterol
May 2024
Purpose Of Review: Crohn's disease is a relapsing inflammatory condition and disease recurrence after surgery is common. Significant variation in clinical practice remains despite progress in management of postoperative Crohn's disease. In this review, we summarise current management strategies and guidelines, unmet needs, and research progress in this field.
View Article and Find Full Text PDFPurpose: The aim of this study was to evaluate the 1-year outcomes of using processed amniotic fluid (pAF) postoperatively after photorefractive keratectomy (PRK).
Methods: Sixty-one participants were randomized to receive either placebo or pAF drops. The drops were instilled 4 times daily for 1 week after PRK along with routine postoperative medications.