A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy Due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review

Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment

Suicidal tendencies and attitude towards freedom to choose suicide among Lithuanian schoolchildren: results from three cross-sectional studies in 1994, 1998, and 2002

BACKGROUND: Suicidal behaviour is increasingly becoming a phenomenon associated with young people and an important public health issue in Lithuania. However, there are very few studies evaluating impact of young peoples' attitudes towards suicide to their suicidal behaviour. A better understanding of the relations among the variables associated with suicidal ideation and threats in the normal population of adolescents may eventually result in a better understanding of the more serious forms of adolescent suicidal behaviour. The aim of the present study was to evaluate prevalence of suicidal tendencies among Lithuanian schoolchildren and to estimate its association with an attitude towards suicide in 1994 – 2002. METHODS: Three country representative samples of schoolchildren, aged 11, 13 and 15, were surveyed in 1994 (n = 5428), 1998 (n = 4513), and 2002 (n = 5645) anonymously in conformity with the methodology of the World Health Organization Cross – National study on Health Behaviour in School-aged Children (HBSC). RESULTS: About one third of respondents reported about suicidal ideation, plans or attempts to commit suicide. In the study period of eight years, the percentage of adolescents who reported sometime suicidal ideation decreased but the percentage of adolescents who declared serious suicidal behaviour remained on the same high level (8.1%, 9.8% and 8.4% correspondingly in 1994, 1998 and 2002). Moreover, the number of suicidal attempts changed from 1.0% in 1994 to 1.8% in the year 1998 and to 1,7% in the year 2002. The schoolchildren's attitude towards suicide became more agreeable: 36.6%, 41.9% and 62.5% of respondents, correspondingly in 1994, 1998 and 2002, answered that they agree with a person's freedom to make a choice between life and suicide. A multiple logistic regression analysis with low level of suicidality and high level of suicidality versus non suicidal behaviour as dependent variables for gender, age, year of the survey and attitude towards freedom to choose suicide as independent variables approved a significant association between studied covariates over the entire study period. CONCLUSION: Suicidal tendencies are quite frequent among Lithuanian adolescents. An increasing number of schoolchildren are expressing an agreeable attitude towards suicide. The approving attitude towards suicide among adolescents correlates with suicidal ideation and behaviour

Seasonal patterns of suicides over the period of socio-economic transition in Lithuania

BACKGROUND: In Lithuania, suicides are a grave public health problem, requiring more extensive investigation. The aim of the study was to assess the seasonal variations of suicides in Lithuania throughout the years 1993–2002, describing patterns by gender, age and method of suicide. METHODS: The study material consisted of all registered suicides (n = 16,147) committed throughout 1993–2002 in Lithuania. Smoothed trends were inspected. The seasonal effect was explored using monthly ratio statistics and spectral analysis. RESULTS: Suicides in Lithuania have a distinct annual rhythm with peaks in summer and troughs in December. The December frequencies fell by more than 23% in men and 30% in women, while June peak reached nearly 23% in men and July peak exceeded 29% in women, compare with the average levels, (p < 0.05). Hanging was the most common method of suicide both in men and women comprising up to 90% among all suicides in 1998–2002. Among different methods, only hanging suicides showed significant seasonal variations, especially in men. The seasonal amplitude has decreased over time. CONCLUSION: Substantial seasonal variations in suicides were associated with a high proportion of hanging. Extremely high suicide rates in Lithuania require further extensive studies and urgent preventive programs, taking into account the suggestions of this survey

Guidance on Noncorticosteroid Systemic Immunomodulatory Therapy in Noninfectious Uveitis: Fundamentals Of Care for UveitiS (FOCUS) Initiative

Topic: An international, expert-led consensus initiative to develop systematic, evidence-based recommendations for the treatment of noninfectious uveitis in the era of biologics. Clinical Relevance: The availability of biologic agents for the treatment of human eye disease has altered practice patterns for the management of noninfectious uveitis. Current guidelines are insufficient to assure optimal use of noncorticosteroid systemic immunomodulatory agents. Methods: An international expert steering committee comprising 9 uveitis specialists (including both ophthalmologists and rheumatologists) identified clinical questions and, together with 6 bibliographic fellows trained in uveitis, conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol systematic review of the literature (English language studies from January 1996 through June 2016; Medline [OVID], the Central Cochrane library, EMBASE, CINAHL, SCOPUS, BIOSIS, and Web of Science). Publications included randomized controlled trials, prospective and retrospective studies with sufficient follow-up, case series with 15 cases or more, peer-reviewed articles, and hand-searched conference abstracts from key conferences. The proposed statements were circulated among 130 international uveitis experts for review. A total of 44 globally representative group members met in late 2016 to refine these guidelines using a modified Delphi technique and assigned Oxford levels of evidence. Results: In total, 10 questions were addressed resulting in 21 evidence-based guidance statements covering the following topics: when to start noncorticosteroid immunomodulatory therapy, including both biologic and nonbiologic agents; what data to collect before treatment; when to modify or withdraw treatment; how to select agents based on individual efficacy and safety profiles; and evidence in specific uveitic conditions. Shared decision-making, communication among providers and safety monitoring also were addressed as part of the recommendations. Pharmacoeconomic considerations were not addressed. Conclusions: Consensus guidelines were developed based on published literature, expert opinion, and practical experience to bridge the gap between clinical needs and medical evidence to support the treatment of patients with noninfectious uveitis with noncorticosteroid immunomodulatory agents

Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa

PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, noncomparative clinical study. METHODS: Preoperative, intraoperative, and postoperative data of patients with RP who were undergoing cataract surgery were collected from several expertise centers across Europe. RESULTS: In total, 295 eyes of 225 patients were included in the study. The mean age at surgery of the first eye was 56.1 ± 17.9 years. Following surgery, best-corrected visual acuity (BCVA) improved significantly from 1.03 to 0.81 logMAR (ie, 20/214 to 20/129 Snellen) in the first treated eye (−0.22 logMAR; 95% CI = −0.31 to −0.13; P < .001) and from 0.80 to 0.56 logMAR (ie, 20/126 to 20/73 Snellen) in the second treated eye (−0.24 logMAR; 95% CI = −0.32 to −0.15; P < .001). Marked BCVA improvements (postoperative change in BCVA of ≥0.3 logMAR) were observed in 87 of 226 patients (39%). Greater odds for marked visual improvements were observed in patients with moderate visual impairment or worse. The most common complications were zonular dialysis (n = 15; 5%) and (exacerbation of) cystoid macular edema (n = 14; 5%), respectively. Postoperative posterior capsular opacifications were present in 111 of 295 eyes (38%). CONCLUSION: Significant improvements in BCVA are observed in most patients with RP following cataract surgery. Baseline BCVA is a predictor of visual outcome. Preoperative evaluation should include the assessment of potential zonular insufficiency and the presence of CME, as they are relatively common and may increase the risk of complications

Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa

PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, noncomparative clinical study. METHODS: Preoperative, intraoperative, and postoperative data of patients with RP who were undergoing cataract surgery were collected from several expertise centers across Europe. RESULTS: In total, 295 eyes of 225 patients were included in the study. The mean age at surgery of the first eye was 56.1 ± 17.9 years. Following surgery, best-corrected visual acuity (BCVA) improved significantly from 1.03 to 0.81 logMAR (ie, 20/214 to 20/129 Snellen) in the first treated eye (−0.22 logMAR; 95% CI = −0.31 to −0.13; P < .001) and from 0.80 to 0.56 logMAR (ie, 20/126 to 20/73 Snellen) in the second treated eye (−0.24 logMAR; 95% CI = −0.32 to −0.15; P < .001). Marked BCVA improvements (postoperative change in BCVA of ≥0.3 logMAR) were observed in 87 of 226 patients (39%). Greater odds for marked visual improvements were observed in patients with moderate visual impairment or worse. The most common complications were zonular dialysis (n = 15; 5%) and (exacerbation of) cystoid macular edema (n = 14; 5%), respectively. Postoperative posterior capsular opacifications were present in 111 of 295 eyes (38%). CONCLUSION: Significant improvements in BCVA are observed in most patients with RP following cataract surgery. Baseline BCVA is a predictor of visual outcome. Preoperative evaluation should include the assessment of potential zonular insufficiency and the presence of CME, as they are relatively common and may increase the risk of complications

Prevalence and familial predictors of suicidal behaviour among adolescents in Lithuania: a cross-sectional survey 2014

Abstract Background In the past decades Lithuania has been experiencing a very high suicide rate among young people and there are scarce data on the role of the family in shaping these people suicidal behaviour. This study investigated the prevalence of suicidal ideation and attempts, as well as their association with a range of familial factors in a representative sample of Lithuanian adolescents. Methods Study subjects (N = 3572) were adolescents aged 13- and 15-years from the schools in Lithuania who were surveyed in Spring 2014 according to the methodology of the cross-national Health Behaviour in School-aged Children (HBSC). A standard HBSC international questionnaire was translated into Lithuanian and used anonymously to obtain information about suicidal behaviour (stopped doing activities, considered suicide, planned suicide, and suicide attempts) and family life (family structure, quality of communication in family, parental monitoring and bonding, parenting style, family time, etc.). Logistic regression was used to assess association between suicidal behaviours and familial variables. Results Forty three percents of surveyed adolescents reported presence of emotions that stopped doing activities during the last 12 months, 23.8 % seriously considered attempting suicide, 13.7 % made a suicide plan, 13.2 % attempted suicide, and 4.1 % needed treatment because of suicide attempt in the previous year. Adolescents from non-intact families reported more suicidal ideation (OR ranged from 1.32 to 1.35, P < 0.05) and more suicide attempts (OR = 1.70, 95 % CI 1.38-2.09, P < 0.001). Among adolescents from intact families, some manisfestations of suicidal behaviour were significantly associated with low satisfaction in family relationships, low father’s and mother’s emotional support, low mother’s monitoring, low school-related parental support, authoritarian-repressive father’s parenting style and permissive-neglectful mother’s parenting style, but rare family time together and rare electronic media communication with parents were inversely associated with suicidal behaviour. The boys, 15-year-olds and adolescents who indicated often activities together with their families were more likely than their counterparts to report suicide attempts treated by a doctor or nurse. Conclusion The young people of Lithuania are at particular risk for suicides. A non-intact family structure and weak family functioning are significant predictors of suicidal ideation and attempts among adolescents of Lithuania. It is essential to consider family life practices in planning intervention programs for prevention of suicides among adolescents