Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.

AIM: To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature. METHODS: Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed. RESULTS: The three affected siblings presented with short stature, brachydactyly and ocular disorders, including very shallow anterior chamber, high myopia, microspherophakia lens subluxation with stretched zonules and glaucoma. Genetic analysis verified a homozygous missense mutation (c.2983C>T: p. Arg995Trp) in ADAMTS17, which was correlated with the diseases in this family, indicating an autosomal recessive inherited manner of WMS. This review aims to summarize the mutation sites of WMS genes, so as to prevent the disease and better guide clinical diagnosis and treatment. CONCLUSION: A novel homozygous missense variant of ADAMTS17 is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with ADAMTS17 variants.

Penetrating canaloplasty in angle-closure glaucoma secondary to iridocorneal endothelial syndrome following multiple failed filtering surgeries: A case report.

RATIONALE: Angle-closure glaucoma secondary to iridocorneal endothelial syndrome (ICE) is challenging to treat, especially in patients who have already undergone multiple surgical procedures. Long-term success is difficult to achieve with traditional filtration surgery again. This case report describes a novel nonbleb-dependent surgery for managing such a young patient. PATIENT CONCERNS: A 30-year-old male with glaucoma secondary to ICE was referred to West China Hospital, Sichuan University for uncontrolled intraocular pressure following multiple failed filtering surgeries under maximum topical antiglaucoma medications in his right eye. DIAGNOSES: The patient was diagnosed with angle-closure glaucoma secondary to ICE in the right eye based on a series of ophthalmic examinations. INTERVENTIONS: Penetrating canaloplasty was performed to manage glaucoma secondary to ICE in the right eye. OUTCOMES: The patient's visual acuity improved, the intraocular pressure was reduced to 11 to 15 mm Hg through 30 months of follow-up, and no antiglaucoma medication or additional surgical procedures were needed. LESSONS: Penetrating canaloplasty could be considered as an option for the treatment of refractory angle-closure glaucoma secondary to ICE with extensive angle adhesion.

Variation among 532 genomes unveils the origin and evolutionary history of a global insect herbivore.

The diamondback moth, Plutella xylostella is a cosmopolitan pest that has evolved resistance to all classes of insecticide, and costs the world economy an estimated US $4-5 billion annually. We analyse patterns of variation among 532 P. xylostella genomes, representing a worldwide sample of 114 populations. We find evidence that suggests South America is the geographical area of origin of this species, challenging earlier hypotheses of an Old-World origin. Our analysis indicates that Plutella xylostella has experienced three major expansions across the world, mainly facilitated by European colonization and global trade. We identify genomic signatures of selection in genes related to metabolic and signaling pathways that could be evidence of environmental adaptation. This evolutionary history of P. xylostella provides insights into transoceanic movements that have enabled it to become a worldwide pest.

Inheritance and fitness costs of resistance to Bacillus thuringiensis toxin Cry2Ad in laboratory strains of the diamondback moth, Plutella xylostella (L.).

The diamondback moth, Plutella xylostella (Lepidoptera: Plutellidae), is one of the main pests of Brassica crops worldwide. Management of P. xylostella is particularly challenging, as different field populations have readily acquired resistance to a wide range of insecticides, including Bacillus thuringiensis (Bt) toxins. In this study, a novel strain of P. xyllostela (Fuzhou-R2Ad) with 120-fold resistance to Bt Cry2Ad was selected in the laboratory, after screening for 66 generations from the susceptible strain Fuzhou-S. In the absence of Bt Cry2Ad toxin, the Fuzhou-R2Ad had significantly lower fitness as compared to the susceptible strain, which might be related to induced genetic changes to Bt toxins. We used several models to measure the dominance levels of insecticide resistance among different strains and found an incompletely recessive inheritance pattern of the Fuzhou-R2Ad resistance, which might be controlled by multiple genes. This study constitutes the first report of laboratory-acquired resistance to Cry2Ad toxin in P. xylostella. Our work presents further insights into the mechanism of Bt resistance and has immediate implications for the integrated pest management of P. xylostella globally.

A comprehensive clinical study about patching after strabismus surgery.

PURPOSE: Patching of the operative eye is occasionally used in pediatric strabismus surgery. The primary purpose of this study was to investigate the psychological and physiologic effects of patching after operation by multifactorial methods. METHODS: We analyzed the perioperative behaviors of 61 children with strabismus conducted from June 2012 to July 2013 in this prospective longitudinal study. The children were randomized into 2 groups. Patients in the patching group underwent postoperative patching and others received no patching. Main outcome measures included The Faces Pain Scale-Revised score or numerical rating scales score, Children's Hospital of Eastern Ontario Pain Scale (CHEOPS) score, crying time, and preoperative and postoperative physiologic parameters. RESULTS: Crying time was significantly longer in the patching group than in the no patching group, but self-report scores showed no difference in the groups. Repeated-measures analysis of variance on ranks revealed that postoperative CHEOPS score was lower in the no patching group than in the patching group, whereas no physiologic parameters were significantly different in the 2 groups. CONCLUSIONS: Patching is not necessary for reducing postoperative pain or the risk of infection in children undergoing strabismus surgery.

[Interaction between chlopyrifos and microorganisms in soils].

The experimental results showed that in sterilized soils, the degradation rate of 50 mg x kg(-1), 500 mg x kg(-1) and 5,000 g x kg(-1) chlopyrifos was very slow (only 20% after 60 d), and in soils which previously treated with chlopyrifos, the degradation rate of 50 mg x kg(-1), 500 mg x kg(-1) and 5,000 mg x kg(-1) chlopyrifos was 100%, 90% and 80%, respectively. However, in un-sterilized and untreated soils, the degradation rate was at the medium of the rates mentioned-above, indicating that soil microorganisms played an important role in chlopyrifos degradation, and using chlopyrifos could induce the chlopyrifos degrading ability of soil microorganisms. Compared to the soils untreated with chlopyrifos, the soils treated with 50 mg x kg(-1) and 500 mg x kg(-1) chlopyrifos had somewhat increased bacteria and fungi during a short period of treatment, which recovered to normal level after 60 days. But, when treated with 5,000 mg x kg(-1) chlopyrifos, the bacteria and fungi were inhibited, and couldn't recover after 60 days. Under the same treatment condition, the number of bacteria and fungi was not different between soils previously treated and untreated with chlopyrifos, which indicated that enhanced degradation of chlopyrifos was not decided by the numbers of bacteria and fungi, but by their ability of enhanced degradation.