A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia

Isovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. We suggest that the former is a founder mutation in the Chinese population and propose an explanation for the duplication event. Strategies that may achieve early diagnosis and prompt treatment include raising awareness of this condition, implementation of a tandem mass spectrometry neonatal screening programme, and local acquisition of appropriate medications for these metabolic diseases.published_or_final_versio

Potentiality of benthic dinoflagellate cultures and screening of their bioactivities in Jeju Island, Korea

Eleven strains of benthic dinoflagellates (Amphidinium carterae (D1), Prorocentrum rhathymum (D2),Symbiodinium sp. (D3), Coolia malayensis 1 (D4), Ostreopsis ovata 1 (D5), Ostreopsis ovata 2 (D6),Coolia malayensis 2 (D7), Amphidinium operculatum 1 (D8), Heterocapsa psammophila (D9), Cooliamalayensis 3 (D10) and Amphidinium operculatum 2 (D11)) were collected in Jeju Island, Korea and cultured in 20 L carboys after establishing unialgal cultures. Their growth potential and biomass productivity were evaluated using two different culture media (IMK and f/2 medium); it was found thatIMK medium has the potential to culture benthic dinoflagellates compared to commonly used f/2 medium. Among the benthic dinoflagellates, A. carterae (D1) had the maximum cell density (148.6 × 103 cells mL-1), growth rate (0.317 ± 0.01 divisions day-1) and biomass (0.260 ± 0.03 g L-1 dry weight) in IMK medium at 20 days of culture. Also, screened bioactivities among the methanolic extracts of cultured dinoflagellates showed A. carterae (D1) to have the highest antioxidant and  anti-inflammatory effect and O. ovata 1 (D5) had the highest anticancer activity compared to the other strains. Taken together, this is the first report on the growth potential and biomass production of benthic dinoflagellate strains isolated from Jeju Island in appropriate culture medium as well as their importance in potential pharmacological applications.Key words: Amphidinium carterae, benthic dinoflagellates, biomass, bioactivities, culture conditions, Jeju Island

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis

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Author Correction: Federated deep learning for detecting COVID-19 lung abnormalities in CT: a privacy-preserving multinational validation study

Correction to: npj Digital Medicine https://doi.org/10.1038/s41746-021-00431-6, published online 29 March 202

Determinants of synaptic integration and heterogeneity in rebound firing explored with data-driven models of deep cerebellar nucleus cells

Significant inroads have been made to understand cerebellar cortical processing but neural coding at the output stage of the cerebellum in the deep cerebellar nuclei (DCN) remains poorly understood. The DCN are unlikely to just present a relay nucleus because Purkinje cell inhibition has to be turned into an excitatory output signal, and DCN neurons exhibit complex intrinsic properties. In particular, DCN neurons exhibit a range of rebound spiking properties following hyperpolarizing current injection, raising the question how this could contribute to signal processing in behaving animals. Computer modeling presents an ideal tool to investigate how intrinsic voltage-gated conductances in DCN neurons could generate the heterogeneous firing behavior observed, and what input conditions could result in rebound responses. To enable such an investigation we built a compartmental DCN neuron model with a full dendritic morphology and appropriate active conductances. We generated a good match of our simulations with DCN current clamp data we recorded in acute slices, including the heterogeneity in the rebound responses. We then examined how inhibitory and excitatory synaptic input interacted with these intrinsic conductances to control DCN firing. We found that the output spiking of the model reflected the ongoing balance of excitatory and inhibitory input rates and that changing the level of inhibition performed an additive operation. Rebound firing following strong Purkinje cell input bursts was also possible, but only if the chloride reversal potential was more negative than −70 mV to allow de-inactivation of rebound currents. Fast rebound bursts due to T-type calcium current and slow rebounds due to persistent sodium current could be differentially regulated by synaptic input, and the pattern of these rebounds was further influenced by HCN current. Our findings suggest that active properties of DCN neurons could play a crucial role for signal processing in the cerebellum

18F-FDG PET/CT diagnosis of vagus nerve neurolymphomatosis

A 62-year-old woman was in remission from previously treated stage IV diffuse large B-cell lymphoma with cranial involvement. She presented with new-onset hoarseness of voice and choking; MRI of the brain showed disease recurrence in the left cavernous sinus. She was subsequently referred for F-FDG PET/CT with contrast for further evaluation of lymphomatous recurrence. 18F-FDG PET/CT not only revealed hypermetabolic activity in the left cavernous sinus correlating to the MRI findings but also showed an interesting manifestation explaining the patient's hoarseness of voice, being neurolymphomatosis along the left vagus nerve. © 2012 by Lippincott Williams & Wilkins.link_to_subscribed_fulltex

2,4-Dinitrophenol: A threat to Chinese body-conscious groups

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