We observed a patient with a Saethre-Chotzen-like phenotype with severe neurological features. Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. The phenotypic features of chromosomal microdeletions involving the 7p21.1, where the twist homolog 1 gene (TWIST1) responsible for SCS is located, are recognized as a contiguous gene deletion syndrome with SCS and other phenotypic manifestations. In this study, we identified microdeletions in 4q13.2 and 7p21.1 in a patient with SCS and severe neurological features including developmental delay and autistic behavior. In comparison to other SCS patients with intragenic mutations or small deletions in 7p21.1, neurological features seen in this patient were extremely severe, likely modified by a concurrent deletion of 4q13.2. Both microdeletions were de novo and paternal in origin. Further information on such concurrent chromosomal deletions should be accumulated for better understanding of the mechanism.

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Age at onset, presence of BZD-resistant SE, and AST are associated with a poor prognosis in AE.

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Black soldier fly meal (BM) is an outstanding candidate as a fish meal (FM) substitute because it contains relatively high protein and essential amino acids. In this study, we replaced FM in red sea bream diets (Pagrus major) with BM to investigate its effect on growth and feed utilization. Six isonitrogenous and isolipidic experimental diets were prepared by substituting 0%, 20%, 40%, 60%, 80% and 100% FM protein with BM (Control, BM20, BM40, BM60, BM80 and BM100, respectively). After the 8-week feeding trial, final body weight, weight gain, specific growth rate and feed efficiency decreased linearly with increasing dietary BM level (p < 0.05). Apparent digestibility of protein and fat and serum total cholesterol concentration decreased with increasing dietary BM levels (p < 0.05) Final body weight, WG, SGR and FE against dietary BM level had breaking points of 76.2%, 41.7%, 76.5% and 60.0%, respectively, in segmental regression analysis. In conclusion, the results suggest that BM can replace a maximum of 41.7% of FM in the diet of red sea bream without compromising growth performance or feed efficiency for 56 days.

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Background: The aim of this study was to assess the treatment response to conventional antiepileptic drugs and low-dose adrenocorticotropic hormone therapy for infantile spasms in children with Down syndrome. Methods: We retrospectively investigated the response and relapse rates, electroencephalography findings, patient characteristics during drug withdrawal, and developmental outcome in 10 children with Down syndrome treated for infantile spasms in our hospital. Results: All patients showed cessation of infantile spasms and achieved electroencephalographic normalization. Spasm relapse occurred in one of 10 patients (10%). Antiepileptic drugs have been withdrawn for seven of 10 patients (70%), none of whom have experienced seizure relapse since drug withdrawal. The median developmental quotient (n = 8) was 20.5, which shows that the developmental outcome was unfavorable. Low-dose adrenocorticotropic hormone therapy achieved a low seizure remission rate of 28.6%. Conclusions: Elucidation of the optimal treatment for infantile spasms in children with Down syndrome is needed to reduce the duration of infantile spasms and improve the developmental outcome.