Familial exudative vitreoretinopathy. Case reports

Фамилната ексудативна витреоретинопатия (ФЕВР) е рядко генетично и клинично хетерогенно заболяване, дължащо се на нарушен процес на съдова диференциация, водещо до непълна васкуларизация на ретината. ФЕВР се определя като състояние, наподобяващо ретинопатия на недоносеното, но с изразена фамилна предиспозиция при липсата на анамнеза за преждевременно раждане и/или кислородотерапия. Характерна за ФЕВР е, както асиметрията на патологичния процес в двете очи при един и същи пациент, така и голямата вариабилност на симптомите в членовете на една фамилия. Представяме два клинични случая на този рядък синдром.Familial exudative vitreoretinopathy (FEVR) is a rare genetic and clinically heterogeneous disease, due to a disorder of the vascular differentiation leading to incomplete vascularisation of the peripheral retina. FEVR resembles ROP changes but has clear family predisposition and no history of prematurity or/and oxygen therapy. Patient and interfamily asymmetry of the retinal disorders is specific for FEVR. We report two cases of this rare condition

Vitamin D status in children with myopia

Introduction. A dramatic increase of myopia worldwide has been observed in recent years. New risk factors for the development of myopia have been the target of numerous investigations. The basis of our research is the correlation between serum levels of vitamin D [25(OH)D] and myopia itself.Purpose: To find out the relationship between serum levels of 25(OH) D and myopia. Patients and methods: The study included 222 children with different refraction status. Full ophthalmologic examination, cycloplegic refraction, echobiometry were performed. The serum levels of 25(OH)D were measured by liquid chromatographic mass spectrometry (level of insufficiency < 80 nmol/L).Results: The average patients’ age (51% boys and 48,2% girls) was 11,7 y (SD ± 3,03). They were subdivided into two groups – children with myopia (84,7%) and those without myopia (15,3%). The mean serum 25(OH)D level of all tested was 61,48 nmol/L (16-140 nmol/L; SD ± 20,15); of myopia – 59,67 nmol/L (16-140 nmol/L; SD ± 19,30) and of the non-myopia group – 71,91 nmol/L (33-111 nmol/L; SD ± 21,79). There was a statistically significant difference in serum levels between the two groups (Р = 0,001). The risk of myopia was higher with the decrease of 25(OH)D values (OR = 1,028 ; 95% CI 1,008-1,048). Conclusion. In our investigation group we established low serum levels of 25(OH)D which indicated the need for conducting a population study of its status among Bulgarian children. The correlation between the higher risk of myopia and the vitamin D scarcity has to be further studied, also considering the factor of outdoor/sun-exposure time.

Revealing the Winds under the Rain. Part I: Passive Microwave Rain Retrievals Using a New Observation-Based Parameterization of Subsatellite Rain Variability and Intensity—Algorithm Description

Scatterometer ocean surface winds have been providing very valuable information to researchers and operational weather forecasters for over 10 years. However, the scatterometer wind retrievals are compromised when rain is present. Merely flagging all rain-affected areas removes the most dynamic and interesting areas from the wind analysis. Fortunately, the Advanced Earth Observing Satellite II (ADEOS-II) mission carried a radiometer [the Advanced Microwave Scanning Radiometer (AMSR)] and a scatterometer, allowing for independent, collocated retrievals of rain. The authors developed an algorithm that uses AMSR observations to estimate the rain inside the scatterometer beam. This is the first in a series of papers that describe their approach to providing rain estimation and correction to scatterometer observations. This paper describes the retrieval algorithm and evaluates it using simulated data. Part II will present its validation when applied to AMSR observations. This passive microwave rain retrieval algorithm addresses the issues of nonuniform beam filling and hydrometeor uncertainty in a novel way by 1) using a large number of soundings to develop the retrieval database, thus accounting for the geographically varying atmospheric parameters; 2) addressing the spatial inhomogeneity of rain by developing multiple retrieval databases with different built-in inhomogeneity and rain intensity, along with a ‘‘rain indicator’’ to select the most appropriate database for each observed scene; 3) developing a new cloud-versus-rain partitioning that allows the use of a variety of drop size distribution assumptions to account for some of the natural variability diagnosed from the soundings; and 4) retrieving atmospheric and surface parameters just outside the rainy areas, thus providing information about the environment to help decrease the uncertainty of the rain estimates.Keywords: Precipitation, Satellite observations, Algorithms, Radiative transfer, Microwave observations, Remote sensin

Global Retinoblastoma Presentation and Analysis by National Income Level

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- A nd middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs

Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries

BACKGROUND: The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe. METHODS: A cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries. RESULTS: Capture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI -12.4 to -5.4, p<0.001), had fewer cases of familial retinoblastoma (95% CI 2.0 to 5.3, p<0.001) and presented with more advanced disease (95% CI 6.0 to 9.8, p<0.001); 43.4% and 15.4% of Africans had extraocular retinoblastoma and distant metastasis at the time of diagnosis, respectively, compared to 2.9% and 1.0% of the Europeans. To reach a retinoblastoma centre, European patients travelled 421.8 km compared to Africans who travelled 185.7 km (p<0.001). On regression analysis, lower-national income level, African residence and older age (p<0.001), but not travel distance (p=0.19), were risk factors for advanced disease. CONCLUSIONS: Fewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs

Genome-Wide Distribution of RNA-DNA Hybrids Identifies RNase H Targets in tRNA Genes, Retrotransposons and Mitochondria

During transcription, the nascent RNA can invade the DNA template, forming extended RNA-DNA duplexes (R-loops). Here we employ ChIP-seq in strains expressing or lacking RNase H to map targets of RNase H activity throughout the budding yeast genome. In wild-type strains, R-loops were readily detected over the 35S rDNA region, transcribed by Pol I, and over the 5S rDNA, transcribed by Pol III. In strains lacking RNase H activity, R-loops were elevated over other Pol III genes, notably tRNAs, SCR1 and U6 snRNA, and were also associated with the cDNAs of endogenous TY1 retrotransposons, which showed increased rates of mobility to the 5'-flanking regions of tRNA genes. Unexpectedly, R-loops were also associated with mitochondrial genes in the absence of RNase H1, but not of RNase H2. Finally, R-loops were detected on actively transcribed protein-coding genes in the wild-type, particularly over the second exon of spliced ribosomal protein genes