High-resolution optical coherence tomography using gapped spectrum and real-valued iterative adaptive approach.

Optical coherence tomography (OCT) is a powerful imaging technique that is capable of imaging cross-sectional structures with micrometer resolution. After combining with phase-sensitive detection, it can sense small changes in the physical quantities inside an object. In OCT, axial resolution is generally improved by expanding the bandwidth of the light source. However, when the bandwidth is expanded discontinuously, the wavelength gap induces abnormal sidelobes when estimating OCT signals in the depth domain. This problem can lead to poor axial resolution. Herein, we present a method based on a real-valued iterative adaptive approach (RIAA) to achieve a high axial resolution under a discontinuous bandwidth condition. The method uses a weighted matrix to suppress the abnormal sidelobes caused by the wavelength gap and, therefore, can realize high-resolution measurements. A single-reflector OCT spectrum was first measured for validation, and its amplitude in the depth domain was estimated using different methods. The results indicate that the RIAA had the best capability of suppressing abnormal sidelobes, thereby achieving a high axial resolution. In addition, cross-sectional images and phase-difference maps of three different samples were measured. A comparison of the results validated the practical value of this method.

De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.

We analyzed our two new cases of infantile-onset epilepsy with developmental delay with de novo variant in TUBB2A and review the related literatures. Our two probands were both girls with infantile-onset epilepsy and global developmental delay. Case 1 had a novel de novo heterozygous missense variant: c.728C>T [p.Pro243Leu] (NM_001069.2). Her brain magnetic resonance imaging (MRI) showed nonspecific white matter myelination delay and slightly enlarged anterior horn of lateral ventricle. Her epilepsy had been controlled by TPM monotherapy. Case 2 had a reported de novo variant c.743C>T [p.Ala248Val] (NM_001069.2). Her brain MRI showed bilateral microgyria and corpus callosum dysplasia. A total of seven TUBB2A mutations cases had been published previously in five papers, therefore, until now, there were nine patients with TUBB2A mutations. All patients had developmental delay, among them seven cases also with infantile-onset epilepsy, one case with abnormal EEG but without clinical seizures. There are six cases that have different degree of cortical dysplasia, one case with cerebellar vermis atrophy and brainstem sacsinopathy, the rest two cases have no obvious brain structural abnormalities. There was one case with variant c.1249G>A (p.D417N) that had atypical clinical presentation, including prominent progressive spastic ataxia, sensory motor axonal neuropathy, and bilateral optic macular dystrophy, but relatively mild intellectual disability, his MRI showed cerebellar atrophy, thinning of the corpus callosum and pons sacsinopathy, but no cortical malformation. The p.A248V mutation was the most common mutation occurred in three patients (3/9). The clinical phenotypes of these three patients were similar, all of them had global developmental delay with no language and corpus callosum dysplasia, two cases with epilepsy and the other one only have EEG epileptic discharges without clinical seizure, two cases with cortical dysplasia and the other one without obvious brain malformation. In brief, global developmental delay was the most common phenotype of TUBB2A mutation-related disease, most cases also had infantile-onset epilepsy and cortical dysplasia and corpus callosum dysplasia. The region between seventh and eighth alpha-helix of TUBB2A may be a "hot spot" mutation domain.

Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2-12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was generalized tonic-clonic seizure and clustered (6/9). Most patients had normal electroencephalogram (5/9) and brain magnetic resonance image (7/9) results. Most patients (7/9) had easy-to-control seizures. Levetiracetam was the most commonly used drug in seizure-free patients (5/7). The variants detected in five patients (5/9, 55.6%) were located in the zinc-binding domain. In summary, our research provided evidence that variants in CSNK2B are associated with epilepsy with or without ID/DD. CSNK2B-related epilepsy is relatively easy to be controlled. The zinc-binding domain appears to be the hotspot region for mutation.

[Neuroprotective effects of topiramate and folic acid on young rats with kindling-induced epilepsy].

OBJECTIVE: To study the neuroprotective effects of topiramate (TPM) alone or together with folic acid (FA) on young rats with kindling-induced epilepsy. METHODS: Rat models of epilepsy were prepared by pentylenetetrazol (PTZ)-induced kindling. Seventy-two 3-week-old male Wistar rats were randomly divided into 6 groups: four TPM-treated epilepsy groups (TPM 20, 40 or 80 mg/kg/d and TPM 40 mg/kg/d + FA 5 mg/kg/d), a positive control group (untreated epilepsy group) and a negative control group (normal control group). After two months of administration, behaviors of the rats were recorded; serum levels of neuron-specific enolase (NSE) were measured using ELISA; pathological changes in the hippocampus were observed. RESULTS: The frequency of convulsion seizures in the 20, 40 and 80 mg TPM treatment and TPM+FA groups was 44.7 +/- 2.9, 44.3 +/- 3.1, 42.7 +/- 3.2, and 40.8 +/- 3.7 respectively, which were significantly lower than that in the positive control group (48.4 +/- 3.7) (P <0.01). Twenty, forty and eighty mg TPM treatment and TPM+FA treatment significantly reduced NSE levels from 35.71 +/- 5.97 microg/L of the control group to 27.40+/- 6.40, 24.79 +/- 6.22, 21.47 +/- 6.87 and 22.55 +/- 7.02 microg/L respectively (P <0.05). Neuronal apoptosis in the CA3 and CA1 regions were alleviated in the four TPM treatment groups compared with positive control. The number of necrotic neurons was progressively reduced with the increased dose of TPM. The 40 mg TPM+FA treatment group showed less necrotic neurons in the CA3 and CA1 regions than the 40 mg TPM alone treatment group. CONCLUSIONS: TPM has protective effects against epilepsy-induced neuronal damage. The effect is dose-dependent. A combination of TPM and FA can produce a synergistic effect.

[Therapeutic effects on cerebral white matter injury of premature infants treated with acupuncture for promoting the governor vessel and tranquilizing the mind].

OBJECTIVE: To explore the repair effects of acupuncture for promoting the governor vessel and tranquilizing the mind (acupuncture technique) on cerebral white matter injury of premature infants. METHODS: A total of 56 cases of cerebral whiter matter injury of premature infants, the fetal age less than 35 weeks were selected and randomized into an observation group (27 cases) and a control group (29 cases). The routine basic rehabilitation therapy was used in the two groups. Additionally, in the observation group, the acupuncture technique was added, once a day and the treatment for 15 days was as 1 course. Totally, 3 courses of treatment were required. Before and after treatment, the cranial magnetic resonance imaging (MRI) and the diffusion tensor imaging (DTI) were adopted to observe the location and severity of cerebral white matter injury. The Gesell developmental scale was used to assess the nerve motor development. RESULTS: After treatment, the difference was not significant statistically in the severity of cerebral white matter injury in the infants between the two groups (P>0.05). The FA value of cerebral white matter in the interesting zone was increased as compared with that before treatment in the infants of the two groups (both P<0.05). The result in the observation group was higher than that in the control groups (P<0.05). After treatment, DQ value of each function zone in Gesell scale was all increased as compared with that before treatment in the two groups (all P<0.05). After treatment, the DQ values of gross motor, fine motor and social adaptability in the observation group were higher than those in the control group (all P<0.05). After treatment, the difference was not significant in DQ value of individual-social and speech behaviors between the two groups (both P>0.05). CONCLUSION: Acupuncture technique for promoting the governor vessel and tranquilizing the mind promotes the repair of the function in the premature infants with cerebral white matter injury and further benefits the promotion of the intelligence.

Characteristics of groundwater recharge on the North China Plain.

Groundwater recharge is an important component of the groundwater system. On the North China Plain (NCP), groundwater is the main water supply. Because of large-scale overexploitation, the water table has declined, which has produced severe adverse effects on the environment and ecosystem. In this article, tracer experiment and watershed model were used to calculate and analyze NCP groundwater recharge. In the tracer experiment, average recharge was 108 mm/year and recharge coefficient 0.16. With its improved irrigation, vegetation coverage and evapotranspiration modules, the INFIL3.0 model was used for calculation of groundwater recharge. Regional modeling results showed an average recharge of 102 mm/year and recharge coefficient 0.14, for 2001-2009. These values are very similar to those from the field tracer experiment. Influences in the two methods were analyzed. The results can provide an important reference for NCP groundwater recharge.