The relationship between aquaporin-4 antibody status and visual tract integrity in neuromyelitis optica spectrum disorders: A visual evoked potential study.

BACKGROUND: Optic neuritis (ON) is one of the hallmark symptomatic features of neuromyelitis optica spectrum disorders (NMOSD). The majority of patients with NMOSD present highly specific autoantibodies against aquaporin-4 (AQP4). A number of studies have reported poor visual acuity outcomes in individuals with AQP4 seropositive NMOSD, but no such relationship has been found with regard to visual evoked potentials (VEP) parameters such as the amplitude and latency of the P100 component. In this paper, we aimed (i) to describe VEP responses in patients with NMOSD; (ii) to analyze those results based on a scoring system; and (iii) to investigate the association between the VEPs and AQP4 antibody status. METHODS: We retrospectively analysed the VEP responses of 40 patients with a diagnosis of NMOSD (according to the 2015 IPND criteria), including 16 with AQP4-postive status (AQP4[+]) and 24 with AQP4-negative status (AQP4[-]). In the first step, we measured the P100 peak latency and P100-N2 peak-to-peak amplitude in each patient. In the second, we converted these measures to the VEP score (0-10) using the scoring proposed by Jung et al. (2008). All recordings were performed using the same VEP device and testing protocol. RESULTS: Abnormal VEPs were recorded in 25 of 40 patients (62.6%). Of these, 17 (42.5%) had prolonged P100 latency, and 8 (20%) had no response detected in at least one eye. The patients with ON as the initial relapse symptom had significantly higher median VEP scores than those who experienced the longitudinally extensive transverse myelitis (LETM) at the disease onset (7.0 [in-terquar-tile range (IQR), 2.0-8.0] vs. 0.0 [IQR, 0.0-4.0], p<0.001). A lack of VEP response in at least one eye was detected more frequently in the AQP4[+] group than the AQP4[-] group (7/16 vs. 1/24, p<0.005). Logistic regression model controlling for age, gender, disease duration, and the type of relapse at onset showed an independent impact of AQP4[+] status (OR=35.45, p = 0.018) on the higher rate of absent VEP responses. In the entire group of patients (n = 40), those with AQP4[+] showed a small tendency towards a higher median VEP score (4.0 [IQR, 0.0-7.8] vs. 1.0 [IQR, 0.0-4.0], p = 0.304). Among individuals with abnormal responses (n = 25), the patients with AQP4[+] had significantly higher median VEP scores (7.0 [IQR, 4.0-8.5] vs. 3.0 [IQR, 1.0-7.0], p = 0.034) and more common bilateral involvement of the optic tracts (80% vs. 40%, p = 0.048) than those who were seronegative for anti-AQP4 antibody. A median regression analysis model controlling for age, gender, disease duration, type of onset, and number of relapses in last 12 months showed an independent association between the AQP4-positive status and a higher VEP score in patients with NMOSD (t = 2.882, df=2, p = 0.007). CONCLUSION: VEP study remains a useful tool in the assessment of NMOSD patients. Due to the high prevalence of absent VEPs in NMOSD patients, the scoring system appears to be more applicable for the precise analysis of VEP recordings. There is a positive association between the AQP-positive serostatus and the poorer outcome in VEP responses, especially in patients with severe impairment of the optic nerve(s).

Internet Usage by Polish Patients With Multiple Sclerosis: A Multicenter Questionnaire Study.

BACKGROUND: The internet is a source of knowledge and medium widely used in services that facilitate access to information and networking. Multiple sclerosis (MS) patients find the possibility of acquiring information relating to their condition particularly rewarding. OBJECTIVE: We aimed to identify Polish MS patients' preferences by analyzing a percentage of internet users and determining the most common search subjects and patients' approach to information on the internet. Disability connected with the condition, its duration, and other factors that influence patients' internet use were examined along with instances of relations established through the internet and their durability. METHODS: The study examined 1045 patients (731 women, 314 men) treated in 10 Polish MS centers, of whom 932 (89.19%) declared to be internet users. Their average age was 40.65 (SD 11.06) and average MS duration was 9.08 (SD 6.97) years. The study used a proprietary survey on information seeking, the range of searched subjects, and internet usage frequency. RESULTS: The majority of the patients (494/932, 53.0%) used the internet 6-7 times per week and 4.3% (40/932) declared they spent minimum 2 hours per day. The most commonly searched subjects were world news (604/932, 72.9% of patients using the internet); 60.8% (504/932) searched for information on their condition, particularly for new treatment methods (562/932, 67.8%) and the course of illness (520/932, 62.7%). One's sex had no impact on internet usage (female vs male, odds ratio [OR] 1.13, 95% CI 0.72-1.77), although a patient's age might, at varying degrees. We found several significant associations using a .05 significance level: a patient with higher education used the internet 9 times more often than one with primary education (OR 8.64, 95% CI 3.31-22.57); lasting relationships increased chances of internet usage by 10-fold compared to widowers (OR 0.12, 95% CI 0.05-0.31); living in a city with a population over 100,000 increased chances by nearly 6 times compared with the countryside (OR 5.59, 95% CI 2.72-11.48); the relapsing-remitting MS type saw a 2-fold increase compared with the primary progressive MS type (OR 0.47, 95% CI 0.29-0.75); and those needing assistance were 2 times less likely to use the internet than patients who could move independently (OR 0.53, 95% CI 0.31-0.89). More than half of the patients (489/932, 52.5%) did not discuss the information found on the internet with their neurologists; 15.9% (148/932) believed that relationships established through the internet can be stable. CONCLUSIONS: The majority of Polish patients use the internet as a crucial information source on their condition and innovative treatment methods. The internet can be helpful in establishing new relationships, which are usually short-lived. Polish patients do not frequently discuss the information gathered on the internet with their doctors.

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.

Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies - disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders. We present the first Polish family with FPLD confirmed genetically. A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities. Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis. Her 9-year-old daughter presented a similar phenotype, but no fat loss. A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD. Treatment with metformin to improve insulin resistance and address the diabetes proved successful.