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Successful identification and mapping of different cropping patterns under cloudy conditions of a specific crop through remote sensing provides important baseline information for planning and monitoring. In Vietnam, this information is either missing or unavailable; several ongoing projects studying options with radar to avoid earth observation problems caused by the prevailing cloudy conditions have to date produced only partial successes. In this research, optical hyper-temporal Satellite Pour l'Observation de la Terre (SPOT) VEGETATION (SPOT VGT) data (1998–2008) were used to describe and map variability in irrigated rice cropping patterns of the Mekong delta. Divergence statistics were used to evaluate signature separabilities of normalized difference vegetation index (NDVI) classes generated from the iterative self-organizing data analysis technique algorithm (ISODATA) classification of 10-day SPOT NDVI image series. Based on this evaluation, a map with 77 classes was selected. Out of these 77 mapped classes, 26 classes with prior knowledge that they represent rice were selected to design the sampling scheme for fieldwork and for crop calendar characterization. Using the collected information of 112 farmers’ fields belonging to the 26 selected classes, the map produced provides highly accurate information on rice cropping patterns (94% overall accuracy, 0.93 Kappa coefficient). We found that the spatial distributions of the triple and the double rice cropping systems are highly related to the flooding regime from the Hau and Tien rivers. Areas that are highly vulnerable to flooding in the upper part and those that are saline in the north-western part of the delta mostly have a double rice cropping system, whilst areas in the central and the south-eastern parts mostly have a triple rice cropping system. In turn, the duration of flooding is highly correlated with the decision by farmers to cultivate shorter or longer duration rice varieties. The overall spatial variability mostly coincides with administrative units, indicating that crop pattern choices and water control measures are locally synchronized. Water supply risks, soil acidity and salinity constraints and the anticipated highly fluctuating rice market prices all strongly influence specific farmers’ choices of rice varieties. These choices vary considerably annually, and therefore grown rice varieties are difficult to map. Our study demonstrates the high potential of optical hyper-temporal images, taken on a daily basis, to differentiate and map a high variety of irrigated rice cropping patterns and crop calendars at a high level of accuracy in spite of cloudy conditions. [ABSTRACT FROM PUBLISHER]

Purpose: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder., Methods: Cases with SP9 variants were collected through international data-sharing networks. To address the specific impact of SP9 variants, in silico and in vitro assays were carried out., Results: De novo heterozygous variants in SP9 cause a novel form of interneuronopathy. SP9 missense variants affecting the glutamate 378 amino acid result in severe epileptic encephalopathy because of hypomorphic and neomorphic DNA-binding effects, whereas SP9 loss-of-function variants result in a milder phenotype with epilepsy, developmental delay, and autism spectrum disorder., Conclusion: De novo heterozygous SP9 variants are responsible for a neurodevelopmental disease. Interestingly, variants located in conserved DNA-binding domains of KLF/SP family transcription factors may lead to neomorphic DNA-binding functions resulting in a combination of loss- and gain-of-function effects., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

A novel variant of unknown significance c.8A > G (p.Glu3Gly) in TPM3 was detected in two unrelated families. TPM3 encodes the transcript variant Tpm3.12 (NM_152263.4), the tropomyosin isoform specifically expressed in slow skeletal muscle fibers. The patients presented with slowly progressive muscle weakness associated with Achilles tendon contractures of early childhood onset. Histopathology revealed features consistent with a nemaline rod myopathy. Biochemical in vitro assays performed with reconstituted thin filaments revealed defects in the assembly of the thin filament and regulation of actin-myosin interactions. The substitution p.Glu3Gly increased polymerization of Tpm3.12, but did not significantly change its affinity to actin alone. Affinity of Tpm3.12 to actin in the presence of troponin ± Ca 2+ was decreased by the mutation, which was due to reduced interactions with troponin. Altered molecular interactions affected Ca 2+ -dependent regulation of the thin filament interactions with myosin, resulting in increased Ca 2+ sensitivity and decreased relaxation of the actin-activated myosin ATPase activity. The hypercontractile molecular phenotype probably explains the distal joint contractions observed in the patients, but additional research is needed to explain the relatively mild severity of the contractures. The slowly progressive muscle weakness is most likely caused by the lack of relaxation and prolonged contractions which cause muscle wasting. This work provides evidence for the pathogenicity of the TPM3 c.8A > G variant, which allows for its classification as (likely) pathogenic.

Objectives: Where palliative surgery or percutaneous drainage used to be the only option in patients with afferent loop syndrome, endoscopic management by EUS-guided gastroenterostomy has been gaining ground. However, EUS-guided hepaticogastrostomy might also provide sufficient biliary drainage. Our aim was to evaluate the feasibility of EUS-guided hepaticogastrostomy for the management of afferent loop syndrome and provide comparative data on the different approaches., Methods: The institutional databases were queried for all consecutive minimally invasive procedures for afferent loop syndrome. A retrospective, dual-centre analysis was performed, separately analysing EUS-guided hepaticogastrostomy, EUS-guided gastroenterostomy and percutaneous drainage. Efficacy, safety, need for re-intervention, hospital stay and overall survival were compared., Results: In total, 17 patients were included (mean age 59 years (± SD 10.5), 23.5% female). Six patients, which were ineligible for EUS-guided gastroenterostomy, were treated with EUS-guided hepaticogastrostomy. EUS-guided gastroenterostomy and percutaneous drainage were performed in 6 and 5 patients respectively. Clinical success was achieved in all EUS-treated patients, versus 80% in the percutaneous drainage group (p = 0.455). Furthermore, higher rates of bilirubin decrease were seen among patients undergoing EUS: > 25% bilirubin decrease in 10 vs. 1 patient(s) in the percutaneously drained group (p = 0.028), with > 50% and > 75% decrease identified only in the EUS group. Using the ASGE lexicon for adverse event grading, adverse events occurred only in patients treated with percutaneous drainage (60%, p = 0.015). And last, the median number of re-interventions was significantly lower in patients undergoing EUS (0 (IQR 0.0-1.0) vs. 1 (0.5-2.5), p = 0.045) when compared to percutaneous drainage., Conclusions: In the management of afferent loop syndrome, EUS seems to outperform percutaneous drainage. Moreover, in our cohort, EUS-guided gastroenterostomy and hepaticogastrostomy provided similar outcomes, suggesting EUS-guided hepaticogastrostomy as the salvage procedure in situations where EUS-guided gastroenterostomy is not feasible or has failed., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

False start of the growing season (Fsos) is a component of the onset variability related to agronomic drought that adversely impact on agricultural production and productivity. In the sub-Saharan Africa (SSA) where agriculture heavily depends on rainfall, the Fsos tends to create confusion among farmers on when to start planting crops thereby affecting seed germination and normal growth after emergence. In this paper, we focus on the Fsos and the occurrence of dry spell especially before the Start of growing Season (SoS). We take advantage of the existing rainfall estimates (CHIRPS) and remotely sensed data for vegetation performance (NDVI) over the period 1999-2017 in combination with local knowledge derived from farmers to map out areas at risk of (i) dry spell at the SoS, and (ii) false timing of SoS or high probability of occurrence of the Fsos. We found that the North Eastern part of Uganda (8.8% of arable area) were at risk of dry spell throughout each year. However, the greater North (58.1% of arable area) was prone to dry spell during the onset of the March-May season. Areas in the South Western (3.7%) region were at risk during the onset of the September-November season. The probability that a location in Uganda experiences an Fsos falls between 0-53%. The findings in this study are vital for planning of predictive adaptation to the impacts of climate variability on agriculture amid struggle aimed at tackling food insecurity challenge in the SSA., Competing Interests: The authors declare no conflict of interest., (© 2021 The Author(s).)

Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report two Finnish families and one Dutch family with affected individuals presenting with mild to moderate ID, neuropsychiatric symptoms and delayed speech development. By utilizing whole exome sequencing (WES), we identified a founder missense variant c.983T>C (p.Leu328Pro) in seven affected individuals from two Finnish consanguineous families and a deletion c.799_1034-429delinsTTATGA (p.Gln267fs) in one affected individual from a consanguineous Dutch family in the C12orf4 gene on chromosome 12. Both the variants co-segregated in the respective families as an autosomal recessive trait. Screening of the p.Leu328Pro variant showed enrichment in the North Eastern sub-isolate of Finland among anonymous local blood donors with a carrier frequency of 1:53, similar to other disease mutations with a founder effect in that region. To date, only one Arab family with a three affected individuals with a frameshift insertion variant in C12orf4 has been reported. In summary, we expand and establish the clinical and mutational spectrum of C12orf4 variants. Our findings implicate C12orf4 as a causative gene for autosomal recessive ID., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA have been associated with diverse, syndromic X-linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the novel, recurrent mutations p.(Arg83Cys) and p.(Phe128Leu) revealed reduced catalytic activity. X-inactivation was random in five females. The core phenotype of X-linked NAA10-related N-terminal-acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies. Genotype-phenotype correlations within and between both genders are complex and may include various factors such as location and nature of mutations, enzymatic stability and activity, and X-inactivation in females., (© 2016 The Authors. **Human Mutation published by Wiley Periodicals, Inc.)

Background and Aims: Successful transfer of adolescent IBD patients to an adult gastroenterologist requires anticipation of a changing role for patients and their parents. Self-efficacy has been demonstrated to be important for transfer readiness. We therefore developed an IBD-specific questionnaire (the "IBD-yourself") to assess self-efficacy in adolescent IBD patients visiting a transition clinic. Our aim was to evaluate the reliability of this questionnaire, and to describe the self-efficacy level of adolescent IBD patients, and the perceived self-efficacy level according to their parents., Methods: In a cross-sectional design, 50 IBD patients (aged 14-18 years) and 40 parents completed the "IBD-yourself" questionnaire. Internal reliability was assessed by standardised Cronbach's α. Median self-efficacy scores per domain were calculated., Results: The domains of the questionnaire for adolescents showed good to excellent internal consistency, with Cronbach's α ranging from 0.64 to 0.93. The domains of the parental questionnaire had Cronbach's α ranging from 0.47 to 0.93. Median self-efficacy scores of adolescents varied from 70 to 100%. In comparison with patient's self-assessment, parents thought that their child was more self-efficacious in knowledge of IBD and diagnostic tests, self-management of medication use, and transfer readiness. Length of time since first visit to the transition clinic was positively correlated with several domains of the questionnaire, such as independent behaviour at the outpatient clinic, and transfer readiness., Conclusion: The "IBD-yourself" questionnaire is a first step toward evaluating quality and efficacy of IBD transition programmes. Paediatric gastroenterologists should be aware that parents do not always accurately assess the self-efficacy of their child., (Copyright © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.)

Background and Aims: A six-week course of exclusive enteral nutrition (EEN) is recommended as first treatment in active paediatric Crohn's disease (CD). We aimed to assess short-term and long-term outcome of EEN, and to identify predictive factors of treatment success., Methods: The medical records of newly diagnosed paediatric CD patients initiating EEN as remission induction therapy between January 2008 and October 2011 were retrospectively studied. Treatment outcome was assessed using a previously described pattern recognition model., Results: 77 CD patients (median age 13.9 years, 57% male) initiated a six-week course of EEN, combined with azathioprine maintenance treatment in 92%. Patients received EEN as either hyperosmolar sip feeds or polymeric formula by nasogastric tube. In patients completing a six-week course of EEN (n=58), complete remission was achieved in 71%, partial remission in 26%, and no response in 3%. Complete remission rates were higher in children presenting with isolated ileal/ileocaecal disease and malnutrition. Nineteen patients discontinued EEN before the intended treatment period due to worsening of symptoms (n=9) or adherence issues (n=10). Non-adherence occurred more often in older children, females, children from non-Dutch parents, and patients taking hyperosmolar sip feeds compared with polymeric formula by nasogastric tube. The likelihood of relapsing disease within the first year after EEN treatment was 59%., Conclusion: A six-week course of EEN is effective in newly diagnosed paediatric CD, with response rates that seem to be influenced by disease location and nutritional status, but not by type of formula. Non-adherence occurs frequently and limits the success of this treatment in everyday clinical practice., (Copyright © 2012 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.)

Finding solutions for patients with unmet needs is at the heart of Genzyme's innovative medical research. While small molecules and enzyme-replacement therapies have made significant strides in improving patients' quality of life and expectancy, the solutions to many conditions, such as heart disease or CNS diseases, rely on the capacity of the body to regenerate cells. Cell and gene therapy lend themselves well to providing solutions for these illnesses with no current cure, by harnessing the body's natural ability to heal. Promising research in these fields continues to evolve and constitutes a long-term investment in addressing serious unmet medical needs in various therapeutic areas. Over the past 15 years, Genzyme has established itself as a pioneer in shaping the research and commercial application of cell and gene therapy. Genzyme's first commercially available innovative cell therapies--Carticel and Epicel--have provided a solid foundation to move into new, cutting-edge areas.