Analysis of risk factors for neurological symptoms in patients with purely hepatic Wilson's disease at diagnosis.

OBJECTIVE: To analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis. METHODS: This retrospective study was conducted at the First Affiliated Hospital of the Guangdong Pharmaceutical University on 68 patients with purely hepatic WD aged 20.6 ± 7.2 years. The physical examinations, laboratory tests, color Doppler ultrasound of the liver and spleen, and magnetic resonance imaging (MRI) of the brain were performed. RESULTS: The elevated alanine transaminase (ALT) and aspartate transaminase (AST) levels and 24-h urinary copper level were higher in the purely hepatic WD who developed neurological symptoms (NH-WD) group than those in the purely hepatic WD (H-WD) group. Adherence to low-copper diet, and daily oral doses of penicillamine (PCA) and zinc gluconate (ZG) were lower in the NH-WD group than those in the H-WD group. Logistic regression analysis showed that insufficient doses of PCA and ZG were associated with the development of neurological symptoms in patients with purely hepatic WD at diagnosis. CONCLUSION: The development of neurological symptoms in patients with purely hepatic WD was closely associated with insufficient doses of PCA and ZG, and the inferior efficacy of copper-chelating agents. During the course of anti-copper treatment, the patient's medical status and the efficacy of copper excretion should be closely monitored.

Optical coherence tomography in patients with Wilson's disease.

BACKGROUND: Morphological changes of retina in patients with Wilson's disease (WD) can be found by optical coherence tomography (OCT), and such changes had significant differences between neurological forms (NWD) and hepatic forms (HWD) of WD. The aim of this study was to evaluate the relationship between morphological parameters of retina and brain magnetic resonance imaging (MRI) lesions, course of disease, type of disease, and sexuality in WD. METHODS: A total of 46 WD patients and 40 health controls (HC) were recruited in this study. A total of 42 WD patients were divided into different groups according to clinical manifestations, course of disease, sexuality, and brain MRI lesions. We employed the Global Assessment Scale to assess neurological severity of WD patients. All WD patients and HC underwent retinal OCT to assess the thickness of inner limiting membrane (ILM) layer to retinal pigment epithelium layer and inner retina layer (ILM to inner plexiform layer, ILM-IPL). RESULTS: Compared to HWD, NWD had thinner superior parafovea zone (108.07 ± 6.89 vs. 114.40 ± 5.54 µm, p < .01), temporal parafovea zone (97.17 ± 6.65 vs. 103.60 ± 4.53 µm, p < .01), inferior parafovea zone (108.114 ± 7.65 vs. 114.93 ± 5.84 µm, p < .01), and nasal parafovea zone (105.53 ± 8.01 vs. 112.10 ± 5.44 µm, p < .01) in inner retina layer. Course of disease influenced the retina thickness. Male patients had thinner inner retina layer compared to female patients. CONCLUSION: Our results demonstrated that WD had thinner inner retina layer compared to HC, and NWD had thinner inner retina layer compared to HWD. We speculated the thickness of inner retina layer may be a potential useful biomarker for NWD.

Elderly onset of MELAS in a male: A case report.

Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most common maternally inherited mitochondrial diseases which rarely affects elderly people. Case presentation: We reported the case of a 61-year-old male patient with MELAS. He was experiencing acute migraine-like headaches as the first symptoms. Laboratory data showed elevated lactate and creatine kinase levels. Brain magnetic resonance imaging (MRI) found a high signal intensity lesion in the left occipital-temporal-parietal lobe on diffusion-weighted imaging (DWI). Magnetic resonance angiography (MRA) revealed reversible vasoconstriction of the middle cerebral arteries and superficial temporal arteries. A muscle biopsy suggested minor muscle damage. A genetic study revealed a mitochondrial DNA A3243G mutation. Conclusion: Elderly onset of MELAS is rare and easily misdiagnosed as an ischemic stroke. MELAS with the onset of stroke-like episodes should be considered in adult or elderly patients with imaging findings that are atypical for cerebral infarction. The use of multimodal MRI in the clinical diagnosis of MELAS could be extremely beneficial.

Linear structural features of Wilson's disease and its correlation with neurological symptoms.

To measure the linear structure of the brain in patients with Wilson's disease (WD) and analyze its correlation with neurological symptoms. A total of 174 patients diagnosed with WD were enrolled. According to the type of clinical presentation, the patients with WD were divided into two groups: neurological (NWD) and hepatic (HWD). Sixty healthy volunteers were assigned to a control group. All patients with WD and healthy controls underwent brain magnetic resonance imaging (MRI). The severity of the neurological symptoms was assessed using the Burke Fahn Marsden Movement subscale (BFM-M). Linear brain measurements were performed using T1-weighted MRI scans of all the patients, and the correlation between these linear indices and BFM-M score was investigated. The Huckman index, third ventricle width, and sulcus width of the NWD group were significantly higher than those of the HWD and control groups (P < .05). The frontal horn index, ventricular index, and lateral ventricular body width index of the NWD group were significantly lower than those of the HWD and control groups (P < .05). The Huckman index and third ventricle width of the HWD group were higher than those of the control group (P < .05), whereas the body width index of the lateral ventricle was lower than that of the control group (P < .05). The BFM-M score correlated with the Huckman index (r = 0.29, P < .05), third ventricle width (r = 0.426, P < .001), and lateral ventricular body width index (r = -0.19, P < .05). This study demonstrated significant changes in the linear structure of patients with WD. Linear brain measurement analysis could be used as a potential method to assess the severity of neurological symptoms in WD.

[Short-term and long-term efficacy of PGLA thread-embedding therapy in treatment of stage â post-stroke shoulder-hand syndrome].

OBJECTIVE: To investigate short-term and long-term efficacy of PGLA thread-embedding therapy in the treatment of stage Ⅰ post-stroke shoulder-hand syndrome. METHODS: A total of 60 patients with stage Ⅰ post-stroke shoulder-hand syndrome were randomly divided into control group and treatment group, with 30 patients in each group. The patients in the control group were given acupuncture combined with rehabilitation training, and those in the treatment group were given PGLA thread-embedding therapy combined with rehabilitation training. Conventional acupuncture was performed once a day, and thread-embedding therapy was performed once every 5 days. Both groups were treated for 30 days. Clinical outcome, Visual Analogue Scale (VAS) score, hand edema score, and Fugl-Meyer Assessment (FMA) score were compared within and between groups immediately and at 1 month after treatment. RESULTS: The treatment group had a significantly higher overall response rate than the control group immediately and at 1 month after treatment (93.33%/86.67% vs 73.33%/56.67%, P<0.05). Both groups had significant reductions in VAS score and hand edema score and a significant increase in FMA score immediately and at 1 month after treatment (P<0.05), and the treatment group had significantly greater improvements than the control group (P<0.05). CONCLUSION: PGLA thread-embedding therapy has a better clinical effect than conventional acupuncture in the treatment of stage Ⅰ post-stroke shoulder-hand syndrome.

Identification and characterization of a novel splice-site mutation in the Wilson disease gene.

This study aimed to identify aberrant transcripts of the new splice-site mutation c.3244-2A>C in the Wilson disease (WD) gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) and discuss its genotype and clinical phenotype. DNA and RNA were extracted from peripheral blood lymphocytes, amplified by polymerase chain reaction (PCR) and nested reverse transcription PCR (RT-nested PCR) to characterize the aberrant transcripts. RT-nested PCR product sequencing comparison showed that c.3244-2A>C splice-site mutation caused aberrant transcripts and formatted a new splice acceptor. Patient carrying the splice-site mutation c.3244-2A>C presented early onset age, severe clinical manifestations, and poor prognosis. WD patients with the splice-site mutation show severe clinical manifestations, indicating that aberrant transcripts have important implications for WD phenotype.