Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen.

AIMS: Considering the substantial variability in treatment response across patients with spinal muscular atrophy (SMA), reliable markers for monitoring response to therapy and predicting treatment responders need to be identified. The study aimed to determine if measured concentrations of disease biomarkers (total tau protein, neurofilament light chain, and S100B protein) correlate with the duration of nusinersen treatment and with scores obtained using functional scales for the assessment of motor abilities. METHODS: A total of 30 subjects with SMA treated with nusinersen between 2017 and 2021 at the Department of Pediatrics, University Hospital Centre Zagreb, Croatia, were included in this study. Cerebrospinal fluid (CSF) samples were collected by lumbar puncture prior to intrathecal application of nusinersen. Protein concentrations in CSF samples were determined by enzyme-linked immunosorbent assay in 26 subjects. The motor functions were assessed using functional motor scales. RESULTS: The main finding was significantly decreased total tau correlating with the number of nusinersen doses and motor improvement in the first 18-24 months of treatment (in all SMA patients and SMA type 1 patients). Neurofilament light chain and S100B were not significantly changed after administration of nusinersen. CONCLUSIONS: The measurement of total tau concentration in CSF is a reliable index for monitoring the biomarker and clinical response to nusinersen therapy in patients with SMA.

Anxiety and Treatment Adherence among Glaucoma Patients during COVID-19 Pandemic and Earthquakes in Croatia.

BACKGROUND: The COVID-19 epidemic and earthquakes in Croatia during 2020 suddenly disrupted everyday life and caused psychological disturbances in population. The purpose of the present study was to assess the prevalence of anxiety symptoms and the level of treatment adherence in glaucoma patients during the pandemic. The paper also aimed to evaluate the correlation between anxiety symptoms, treatment adherence and treatment outcomes in the studied cohort. SUBJECTS AND METHODS: This cross-sectional study was conducted among primary open-angle glaucoma (POAG) patients at the Department of Ophthalmology, Zagreb University Hospital Center, during one year. The Beck Anxiety Inventory (BAI) was used to measure the level of anxiety symptoms. Treatment adherence was estimated by the Culig adherence scale (CAS). Glaucoma damage was determined for each patient from the level of structural and functional impairment of the worse eye, by retinal nerve fiber layer (RNFL) thickness and mean defect (MD), respectively. Statistical analyses were performed, with a P value of less than 0.05 considered being statistically significant. RESULTS: This study included 113 POAG patients, with a mean age of 65.89 years. The median of the BAI total score in all patients was 10. According to the CAS, 60.2% of patients were non-adherent to glaucoma treatment during the COVID-19 outbreak. The BAI total score was significantly negatively related to adherence to local glaucoma treatment (p<0.001). A significant negative association was also observed between adherence and MD (p=0.017), while no correlation was found between adherence and RNFL thickness (p=0.228). CONCLUSION: Considerable proportion of patients with glaucoma have shown non-adherence to treatment during the COVID-19 pandemic. Anxiety severity was associated with lower adherence, thus indirectly influencing therapeutics outcomes. Special consideration should be given to the strategies promoting mental health and interventions focusing on treatment adherence in glaucoma patients in a time of emergencies.

LENS CARE COMPLIANCE RATES AND PERCEPTIONS AMONG RIGID GAS PERMEABLE CONTACT LENS WEARERS - A PILOT STUDY.

The aim was to estimate compliance rate among rigid gas permeable lens wearers (RGPLW) in lens system care, identify procedures in lens care process with poorest compliance levels, and assess concordance between participant reported practices and their subjectively perceived compliance. The study included outpatient RGPLW managed at Zagreb University Hospital Center in Zagreb, Croatia. They filled out a questionnaire that included demographic data, duration of lens wear, self-evaluation compliance grade, and 14 lens care procedures and wearing habits indicative of compliance. There were 50 patients (mean age 34.6 years, 68% female). Full compliance was found in a single patient. The mean number of non-compliant procedures was 5.48, with 32% of participants non-compliant in more than 50% of the compliance criteria. Critical procedures of the lens care process were infrequent lens case exchange (74%), using tap water for lens (70%), and improper case cleaning (68%). The mean lens case replacement time was 9.8 months (SD 6.76), with only 26% of patients replacing lens case at least once in 3 months. Excessive daily lens wear was associated with greater total number of non-compliant procedures (p<0.0008). RGPLW were aware of their inappropriate lens care only when achieved non-compliance in almost 50% of the procedures. In conclusion, lens wearers were not aware of their extremely low compliance rate in several aspects of lens and lens case maintenance. Study results indicated the key procedures the practitioners should focus on when evaluating subjective and objective compliance and reinforcing care and hygiene education of RGPLW.

Complication and prognosis of juvenile idiopathic arthritis associated uveitis in the era of modern immunomodulatory treatment.

JIA is the most common rheumatic disease of childhood and JIA-U is its most frequent and most devastating extraarticular manifestation. This form of uveitis is usually asymptomatic, chronic anterior uveitis, often accompained with complications. JIA-U is the main cause of vision loss and even blidness in childhood. Thus, screening for JIA-U in all JIA patients and early treatment is of prime importance. Over the last 15-20 years, ever since IMT has been used, studies generally show trends toward decrease of JIA-U onset, complications frequency, improvement of prognosis and remission achievement. Despite evident improvements, over 20% JIA-U patients still develop complications in long-term follow-up. Moreover, about 50% JIA-U patients continue to have active uveitis in adulthood. Therefore, JIA-U is still associated with high risk of late sequelae and visual acuity loss, functionally and structurally eye damage and quality of life impairment.

Gender Differences in Relationship between Body Mass Index and Asthma.

BACKGROUND: Asthma is one of the most common chronic diseases in the world. Obesity is the most common comorbidity of asthma and is connected to incidence and course of the disease. Obesity is associated with non-allergic asthma phenotype, but this relation could be influenced by gender. The aim of our study was to determine the relationship between BMI and asthma and to explore possible gender differences. SUBJECTS AND METHODS: Study included 149 patients with asthma (examined group) and 153 healthy blood donors (control group). Data from the medical records of patients with asthma were used, and all included subjects had their BMI calculated using standard formula. Data were analyzed using descriptive statistics methods. Data with non-parametric distribution were analysed with Mann-Whitney U test and showed through medians with corresponding interquartile ranges. Statistical significance of BMI differences between non-allergic asthma, allergic asthma and control groups were analyzed by one-way analysis of variance - ANOVA. The results were interpreted at a significance level of P<0.05. RESULTS: The comparison between median BMI values of two groups shows that examined group of patients with astma has significantly higher median BMI value in comparison with control group (P=0.035). Correlation was stronger for women than men (P=0.002 vs P=0.898). Incresed BMI of the examined group of patients with asthma was not asociated with non-allergic asthma (P=0.085). However, when stratified according to gender, there was a strong association of increased BMI with non-allergic asthma in women (P<0.001). CONCLUSION: Patients with asthma in our study have higher BMI in comparison to healthy individuals, which contributes to hypothesis that BMI is a risk factor for development of asthma. We found that possible effect that BMI has on asthma is stronger in women, since there was a strong association between increased BMI and non-allergic asthma only in women.

Synchronous Adie's syndrome and type 1 antineuronal nuclear antibody (anti-Hu)-related paraneoplastic neurological syndromes as predictors of complete response in limited-stage small-cell lung cancer: A case report.

Adie's syndrome (AS) and paraneoplastic sensorimotor neuropathy with cerebellar ataxia (PSN CA) are extremely rare, rapidly progressive, autoimmune diseases associated with the development of antibodies against neuronal-specific Hu proteins that are abnormally expressed in small-cell lung cancer (SCLC). We herein present the unique case of a 55-year-old obese woman, previous heavy smoker, who, during treatment with standard cisplatin-etoposide chemotherapy for limited-stage SCLC, developed simultaneous AS and worsening symptoms consistent with PSN CA that led to significant neurological disability and severe axonal electrophysiological pattern on nerve conduction studies. Serology confirmed the presence of low-titre type 1 antineuronal nuclear antibodies (ANNA-1), previously referred to as anti-Hu antibodies. Following plasmapheresis, immunosuppressive therapy and physical rehabilitation, the neurological symptoms progressively improved. The tumour completely regressed, with no recurrence detected on subsequent radiological examinations. The aim of this case was to highlight the importance of a multidisciplinary team approach for early recognition and rapid treatment of paraneoplastic neurological syndromes (PNS) as key to achieving significant recovery and marked improvement of the neurological deficit. This report extends the literature by confirming earlier studies showing that the presence of serum ANNA-1 in SCLC, an aggressive type of pulmonary carcinoma that is challenging to treat, may portend a more favourable prognosis and response to chemotherapy. Thus, patients with SCLC and new-onset neurological symptoms should be tested for ANNA-1. The role of a multimodality approach to treating PNS is also emphasized.

Contact lenses as the best conservative treatment of newly diagnosed keratoconus--epidemiological retrospective study.

Keratoconus is a progressive, non-inflammatory corneal ectasia characterized by thinning and weakening of the corneal stroma which results in its' protrusion. The onset is during puberty and progresses until the fourth decade of life. In earlier stages, good visual acuity can be provided with spectacles. With progression, contact lenses are considered to be a better therapy. Aim of this study was to determine if there is statistically significant difference between best corrected visual acuity (BCVA) obtained by spectacles and contact lenses in newly diagnosed keratoconus patients, as well as to determine which type of contact lenses provide better BCVA in keratoconus patients. We conducted a 5-year retrospective study of all 2891 patients attending our Contact Lens Department for the first time, searching for patients newly diagnosed with keratoconus. Data were obtained on gender, age, education level, treated eyes, corneal changes, keratoconus severity, BCVA with spectacles, contact lenses and best fitted contact lens type. All patients underwent standard ophthalmic exam, refractometry and keratometry have been done, followed by a spectacles correction and lens fitting. Wilcoxon signed rank test was used for statistical analysis. Results showed that of all 2891 patients examined for the first time, 137 patients (4.74%) have been newly diagnosed with heratoconus, there was male bias (72.26%), mean age 27.7 +/- 9.9 years. Most patients had high school education (51.11%), 3.70% had present corneal changes, 50.37% had mild heratoconus. Majority had keratoconus on both eyes (36.3%) or keratoconus of right eye (26.67%). There was a statistically significant difference (p<0.001) between the BCVA obtained with contact lenses (0.82 +/- 0.21 Snellen chart) rather than spectacles (0.37 +/- 0.27 Snellen chart). The best corrected visual acuity was achieved with rigid gas permeable (RGP) lenses in majority of kera- toconus eyes (51.85%), with semi-gas permeable (SGP) lenses in 43.39%, in 4.23% with polymethyl methacrylate (PMMA) lenses and with hard-soft gas permeable (GP) contact lenses in 0.53% of keratoconus eyes. We have showed that there is a statistically significant difference in BCVA achieved better with contact lenses than with spectacles. RGP lenses are most frequently used in conservative treatment of heratoconus, but SGP lenses were also shown to be a good option that gives equally satisfying final visual acuity with subjective comfortable feeling of contact lens wear.