A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.

BACKGROUND: Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA separately. CASE PRESENTATION: Here, we reported a Chinese family harboring the same p.R316C variant, but with an overlap syndrome and different clinical manifestations. A 58-year-old man presented with severe scapula muscle atrophy, resulting in sloping shoulders. He also exhibited distinct muscle atrophy in his four limbs, particularly in the lower limbs. The sural nerve biopsy revealed severe loss of myelinated nerve fibers with scattered regenerating clusters and pseudo-onion bulbs. Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome, whereas his 27-year-old son was born with clubfoot and clinodactyly. Electromyogram examination indicated chronic neurogenic changes and anterior horn cells involvement. Although there was no obvious weakness or sensory symptoms, early SPSMA could be considered for him. CONCLUSIONS: A literature review of the clinical characteristics in CMT2C and SPSMA patients with TRPV4 mutation suggested that our case was distinct due to the overlap syndrome and phenotype variation. Altogether, this case broadened the phenotype spectrum and provided the nerve biopsy pathological details of TRPV4-related neuropathies.

Value of Group Intervention on Prognosis of Quality of Life in Epileptic Patients Treated With Sodium Valproate and Lamotrigine.

Objective: The study intended to analyze the effects of a group nursing intervention on quality of life (QoL) of patients with epilepsy (EP) after treatment with sodium valproate combined with lamotrigine. Design: The research team performed a randomized controlled trial. Setting: The study took place in the Department of Neurology at the Affiliated Brain Hospital of Nanjing Medical University in Nanjing, Jiangsu, China. Participants: Participants were 170 EP patients at the hospital between January 2019 and August 2022. Intervention: The research team randomly assigned participants to one of two groups: (1) 85 to the intervention group, and they took part in a group nursing intervention; and (2) 85 to the control group (n = 85) and they received conventional care. Outcome Measures: To evaluate participants' risk of suicide, psychological state, and QOL, participants completed at baseline and postintervention: (1) the Mini-International Neuropsychiatric Interview (MINI), (2) the Self-Rating Scale for Psychiatric Symptoms 90 (SCL-90), and (3) the Short Form Health Survey (SF-36) To assess participants' management ability, self-efficacy, and social functioning, they also completed at those time points: (1) the EP Self-Management Behavior Scale (ESMS), (2) the General Self-Efficacy Scale (GSES), and (3) the Social Functioning Deficit Screening Scale (SDSS). Finally, the research also investigated participants' satisfaction with the nursing care. Results: The intervention group's risk of suicide decreased between baseline and postintervention, and its SCL-90 scores were significantly lower and SF-36 scores were significantly higher than those of the control group (both P < .05). In addition, the intervention group's ESMS and GSES scores were also significantly higher than those of the control group, while its SDSS score was significantly lower than that of the control group (all P < .05). Finally, the intervention group's nursing satisfaction was also significantly higher than that of the control group (P < .05). Conclusions: The group nursing intervention can effectively improve the psychological states of EP patients, reduce their pain, improve their self-management skills and QoL, provide them with better and more detailed nursing care, and facilitate the treatment and recovery of EP patients, which can have a significant value in clinical practice.

A model to predict unstable carotid plaques in population with high risk of stroke.

BACKGROUND: Several models have been developed to predict asymptomatic carotid stenosis (ACS), however these models did not pay much attention to people with lower level of stenosis (<50% or carotid plaques, especially instable carotid plaques) who might benefit from early interventions. Here, we developed a new model to predict unstable carotid plaques through systematic screening in population with high risk of stroke. METHODS: Community residents who participated the China National Stroke Screening and Prevention Project (CNSSPP) were screened for their stroke risks. A total of 2841 individuals with high risk of stroke were enrolled in this study, 266 (9.4%) of them were found unstable carotid plaques. A total of 19 risk factors were included in this study. Subjects were randomly distributed into Derivation Set group or Validation Set group. According to their carotid ultrasonography records, subjects in derivation set group were further categorized into unstable plaque group or stable plaque group. RESULTS: 174 cases and 1720 cases from Derivation Set group were categorized into unstable plaque group and stable plaque group respectively. The independent risk factors for carotid unstable plaque were: male (OR 1.966, 95%CI 1.406-2.749), older age (50-59, OR 6.012, 95%CI 1.410-25.629; 60-69, OR 13.915, 95%CI 3.381-57.267;≥70, OR 31.267, 95%CI 7.472-130.83), married(OR 1.780, 95%CI 1.186-2.672), LDL-C(OR 2.015, 95%CI 1.443-2.814), and HDL-C(OR 2.130, 95%CI 1.360-3.338). A predictive scoring system was generated, ranging from 0 to 10. The cut-off value of this predictive scoring system is 6.5. The AUC value for derivation and validation set group were 0.738 and 0.737 respectively. CONCLUSIONS: For those individuals with high risk of stroke, we developed a new model which could identify those who have a higher chance to have unstable carotid plaques. When an individual's predictive model score exceeds 6.5, the probability of having carotid unstable plaques is high, and carotid ultrasonography should be conducted accordingly. This model could be helpful in the primary prevention of stroke.

Brain astrocytoma misdiagnosed as anti-NMDAR encephalitis: a case report.

BACKGROUND: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, which is the most common type of autoimmune encephalitis, is caused by the production of autoantibodies against NMDA receptor. Anti-NMDAR encephalitis patients present with various non-specific symptoms, such as abnormal psychiatric or behaviour, speech dysfunction, cognitive dysfunction, seizures, movement disorders, decreased level of consciousness, and central hypoventilation or autonomic dysfunction. CASE PRESENTATION: A 67-year-old man presented with new-onset focal seizures. The brain magnetic resonance imaging (MRI) plain scan and enhanced scan showed abnormal signal on the proximal midline frontoparietal junction region. Anti-NMDAR antibody was detected in cerebrospinal fluid (CSF) and serum using a commercial kit (Euroimmune, Germany) by indirect immunofluorescence testing (IIFT) according to the manufacturer's instructions for twice. Both of the test results were positive in CSF and serum. The patient was diagnosed as anti-NMDAR encephalitis and then was treated repeatedly with large dose of intravenous corticosteroids and gamma globulin. Accordingly, the refractory nature of seizures in this case may be attributed to NMDAR autoantibodies. When the patient presented at the hospital for the third time, the brain MRI revealed an increase in the size of the frontal parietal lesion and one new lesion in the left basal ganglia. The patient underwent a surgical biopsy and astrocytoma was confirmed by histopathology. CONCLUSIONS: Although the sensitivity and specificity of anti-NMDAR-IgG antibodies in CSF to diagnose anti-NMDAR encephalitis are close to 100%, it is not absolute. Anti-NMDAR antibodies were positive, which might make the diagnosis more complex. The diagnosis of atypical presentation of anti-NMDAR encephalitis requires reasonable exclusion of other disorders.