Mowat-Wilson syndrome: growth charts

Background Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of theZEB2gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Health-related quality of life, anxiety, and depressive symptoms in children with primary immunodeficiencies

Introduction: The aims of this study were to evaluate levels of health-related quality of life (HRQOL) and the presence of anxiety and depressive symptoms in children with primary immunodeficiency disease (PID) in Serbia. Materials and methods: Self- and parent-rated data from 25 children with PID were available. As controls, data from 50 children with juvenile idiopathic arthritis (JIA) and 89 healthy children were included. The Pediatric Quality of Life Inventory was used for HRQOL assessments. Anxiety symptoms were identified using the Screen for Child Anxiety-Related Emotional Disorders questionnaire, while depressive symptoms were identified using the Mood and Feeling Questionnaire. Results: Children with PID had significantly lower Pediatric Quality of Life Inventory total scores compared to children with JIA and healthy children as child-rated (P=0.02) and parent-rated (P<0.001). Specifically, they had significantly lowered emotional functioning compared to children with JIA, and social functioning compared to both children with JIA and healthy children. School functioning was significantly lower among children with PID (parent-rated only). By parent-rated responses, six (24%) out of 25 children with PID had significant anxiety symptoms, while five (20%) children had significant depressive symptoms, which was statistically higher than among children with JIA and healthy controls (P=0.05). Conclusion: HRQOL could be significantly compromised in children with PID, particularly across such psychosocial domains as emotional, social, and school. These children were also found to be at an increased risk for suffering significant anxiety and depressive symptoms. © 2014 Kuburovic et al. This work is published by Dove Medical Press Limited

Photocatalytic degradation of wastewater polluted by methyl-tertiary-butyl-ether using titanium-dioxide and doped titanium-dioxide

The subject of this research was utilization of concentrated solar radiation simulated with a sodium lamp SONT UV100, in lab condition, on removal of wastewater polluted by methyl-tertiary-butyl-ether (MTBE). The effects of titanium dioxide catalyst (commercial: Degussa P-25 (R) and 100% anatase, as well as sol-gel obtained titanium) on degradation of MTBE have been investigated. The processes were performed in slurry-catalyst batch circulating reactor. The photocatalytic degradation with different concentrations of TiO2 Degussa P-250 (R) catalyst: 2.5 g/L, 1 g/L and 0.50 g/L was studied. Our results showed that the MTBE degradation reached 50.80% in only 60 minutes, when 2.5 g/L of that catalyst was used. Also, the concentrated irradiation in combination with TiO2 (100% anatase) and FeCl3 caused high total degradation degree of 58.22%, for only 30 minutes. We synthesized titanium-dioxide, nanopowders doped with LaCl3 center dot 7H(2)O and FeCl3 center dot 6H(2)O, by sol-gel procedure. The highest degradation rate showed La-TiO2, for only 30 minutes and 48.60% of total degradation.Mathematics and Computers in Science and Engineering, 4th IASME/WSEAS International Conference on Water Resources, Hydraulics and Hydrology, Feb 24-26, 2009, Cambridge, Englan

Photocatalytic degradation of wastewater polluted by methyl-tertiary-butyl-ether using titanium-dioxide and doped titanium-dioxide

The subject of this research was utilization of concentrated solar radiation simulated with a sodium lamp SONT UV100, in lab condition, on removal of wastewater polluted by methyl-tertiary-butyl-ether (MTBE). The effects of titanium dioxide catalyst (commercial: Degussa P-25 (R) and 100% anatase, as well as sol-gel obtained titanium) on degradation of MTBE have been investigated. The processes were performed in slurry-catalyst batch circulating reactor. The photocatalytic degradation with different concentrations of TiO2 Degussa P-250 (R) catalyst: 2.5 g/L, 1 g/L and 0.50 g/L was studied. Our results showed that the MTBE degradation reached 50.80% in only 60 minutes, when 2.5 g/L of that catalyst was used. Also, the concentrated irradiation in combination with TiO2 (100% anatase) and FeCl3 caused high total degradation degree of 58.22%, for only 30 minutes. We synthesized titanium-dioxide, nanopowders doped with LaCl3 center dot 7H(2)O and FeCl3 center dot 6H(2)O, by sol-gel procedure. The highest degradation rate showed La-TiO2, for only 30 minutes and 48.60% of total degradation.Mathematics and Computers in Science and Engineering, 4th IASME/WSEAS International Conference on Water Resources, Hydraulics and Hydrology, Feb 24-26, 2009, Cambridge, Englan

Therapeutic fascism: re-educating Communists in Nazi-occupied Serbia, 1942-44

This article probes the relationship between psychoanalysis and right-wing authoritarianism, and analyses a unique psychotherapeutic institution established by Serbia’s World War II collaborationist regime. The extraordinary Institute for compulsory re-education of high-school and university students affiliated with the Communist resistance movement emerged in the context of a brutal civil war and violent retaliations against Communist activists, but its openly psychoanalytic orientation was even more astonishing. In order to stem the rapid spread of Communism, the collaborationist state, led by its most extreme fascistic elements, officially embraced psychotherapy, the ‘talking cure’ and Freudianism, and conjured up its own theory of mental pathology and trauma – one that directly contradicted the Nazi concepts of society and the individual. In the course of the experiment, Serbia’s collaborationists moved away from the hitherto prevailing organicist, biomedical model of mental illness, and critiqued traditional psychiatry’s therapeutic pessimism