...warm-up phenomena and grips myotonia were demonstrated. ...the limb muscle tone increased obviously. ...she possessed strabismus of the right eye Figure 1e, slurred speech and weak voice, claw ...finger deformity, and strephenopodia. ...p.P1158A in SCN4A wasfirst explored in our patients with MC.
•We identified an ataxia case of peroxisomal disorders caused by novel compound heterozygous mutations of the PEX10 gene.•We report the first Chinese patient with PEX10-related peroxisomal ...disorders.•We review PEX10–related peroxisomal disorders, of which 31 various mutations have been reported.
To describe the clinical and genetic features of a Chinese peroxisome biogenesis disorder 6B patient with PEX10 mutations and review PEX10–related peroxisomal disorders.
The proband is a 7-year-old boy with mild mental retardation and gait instability, intention tremor and nystagmus. An extensive clinical and laboratory evaluation including molecular genetic studies was performed. Genomic DNA was extracted from peripheral blood using the standardized phenol/chloroform extraction method, and the coding region of the PEX10 gene was sequenced in three family members.
Cerebral MRI showed cerebellar atrophy. Magnetic resonance spectroscopy revealed a decreased N-acetyl aspartate peak in the cerebellum. Nerve conduction velocity examination found prolonged motor and sensory nerve potential latencies (proximal obvious), decreased potential amplitude, and slow nerve conduction velocity. Routine blood tests and biochemistries were abnormal. The PEX10 gene test showed compound heterozygous mutations (c.209 G > A, p. G70E and c.830 T > C, p. L277 P). The mutation c.830 T > C, p. L277 P has been previously reported, whereas c.209 G > A, p. G70E is novel.
We identified an ataxia case of peroxisome biogenesis disorder 6B caused by novel compound heterozygous mutations of the PEX10 gene. Peroxisome biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia, especially cases with early onset.
Two Gram-stain-negative, aerobic, non-motile bacterial strains, 36D10-4-7
and 30C10-4-7
, were isolated from bark canker tissue of
, respectively. 16S rRNA gene sequence analysis revealed that strain ...36D10-4-7
shows 98.0 % sequence similarity to
DSM 7418
, and strain 30C10-4-7
shows highest sequence similarity to
H-12
(95.6 %). Average nucleotide identity analysis indicates that strain 36D10-4-7
is a novel member different from recognized species in the genus
. The main fatty acids and respiratory quinone detected in strain 36D10-4-7
are C
7
and/or C
6
and Q-10, respectively. The polar lipids are diphosphatidylglycerol, phosphatidylcholine, phosphatidylglycerol, aminolipid, phosphatidylethanolamine, sphingoglycolipid, two uncharacterized phospholipids and two uncharacterized lipids. For strain 30C10-4-7
, the major fatty acids and menaquinone are iso-C
, C
7
and/or C
6
and iso-C
3-OH and MK-7, respectively. The polar lipid profile includes phosphatidylethanolamine, phospholipids, two aminophospholipids and six unidentified lipids. Based on phenotypic and genotypic characteristics, these two strains represent two novel species within the genera
and
. The name
sp. nov. (type strain 36D10-4-7
=CFCC 13112
=KCTC 52799
) and
sp. nov. (type strain 30C10-4-7
=CFCC 13069
=KCTC 52797
) are proposed.
In order to comply with the requirements for a drug listed in China, the study was developed to compare the pharmacokinetics and relative bioavailability of two different enteric formulations of ...omeprazole （OPZ） in healthy Chinese subjects. A total of 32 volunteers participated in the study. Plasma concentrations were analyzed by non- stereospecific liquid chromatography/tandem mass spectrometric （LC-MS/MS） method. After administration of a single 40-mg dose of the two OPZ formulations, the comparative bioavailability was assessed by calculating individual AUC0-t （the area under the concentration-time curve from time zero to the last measurable concentration）, AUC0-∞ （the area under the concentration-time curve extrapolated to infinity）, Cmax （the maximum observed concentration）, and Tpeak （the time to Cmax） values of OPZ, 5-hydroxyomeprazole （OH-OPZ）, and omeprazole sulfone （OPZ-SFN）, respectively. The 90% confidence intervals （CIs） of AUC0-t, AUC0-∞, and Cmax were 85.4%-99.0%/88.8%-98.6%/87.6%-99.4%, 85.5%-99.2%/89.0%-98.6%/88.5%-101.3%, and 72.3%-87.6%/79.6%-91.1%/88.4%-99.1% for OPZ/OH-OPZ/ OPZ-SFN, respectively, and Tpeak values did not differ significantly. In this study, the test formulation of OPZ in fasting healthy Chinese male volunteers met the Chinese bioequivalance standard to the reference formulation based on AUC, Cmax, and Tpeak.
•Paroxysmal kinesigenic dyskinesia (PKD) had distinct patterns in the long exercise test (LET).•The differentiated PKD patients presented with greater amplitude increment than area in the ...LET.•Abnormal muscle membrane excitability might be involved in the mechanisms responsible for PKD.
To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET).
Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as well as 19 hypokalaemic periodic paralysis (HypoPP) patients as the positive controls and 45 healthy subjects as the negative controls. ET including long exercise test (LET) and short exercise test (SET) was performed in the corresponding subjects.
In the LET, both the overall PKD patients and HypoPP patients had greater CMAP amplitude and area increments during exercise than healthy controls. At most 25% of PKD patients were identified from the normality with greater amplitude increment than the area. On the contrary, 50% of HypoPP patients were differentiated with greater area increment than the amplitude. More percentage of PRRT2− patients than PRRT2+ patients had abnormal average amplitude increment. Unexpectedly, five PKD patients had abnormal maximum CMAP amplitude decrements after exercise in the LET, and one had abnormal maximum immediate amplitude decrement in the SET.
Distinct ET manifestations were found in PKD patients compared to normal controls and HypoPP patients.
Abnormal muscle membrane excitability might be involved in the mechanisms responsible for PKD.
According to recent research, amphiphilic surfactants can stabilize metal nanoparticles because of their excellent dispersibility. Therefore, herein, amphiphilic polyethylenimine (PEI) dendritic ...polymer nanocapsules were synthesized by using PEI and poly(urea/malonamide) dendrons of different generations. Then, silver nanoparticles (AgNPs) were immobilized on PEI dendritic polymer nanocapsules for surface-enhanced Raman scattering (SERS) detection. Well-designed amphiphilic PEI dendrons possessed abundant nucleation sites for AgNP reduction, which could directly reduce silver ions to AgNPs without additional reducing agents at room temperature, showing the stronger reducing capability than pristine PEI. The size and interparticle gap of AgNPs were manipulated by varying the size of the PEI dendritic polymer and the ratio of PEI dendritic nanocapsules/AgNO3. As a result, the Ag-PEI-dendritic polymer was able to perform Raman enhancing capability. Especially, a sample, namely, Ag-PEI-G0.5, exhibited the strongest Raman enhancement effect, due to the optimal size and interparticle gap of AgNPs. The Ag-PEI dendritic SERS nanocapsules could rapidly and reproducibly detect many kinds of biomolecules (adenine, methylene blue, and beta-carotene) with a linear calibration curve. The limit of detection (LOD) of adenine was lower than 10–7 M. Therefore, this facile method to in situ prepare Ag-PEI dendritic SERS nanocapsules (reducing agent free) possesses high potential to be applied in rapid SERS detection for the quantitative analysis of biomolecules.
•We find one novel splicing mutation in SCARB2 gene.•We report one Chinese SCARB2-related PME patient.•We review 27 SCARB2-related PME patients from 20 families.
To describe the clinical and genetic ...features of a Chinese progressive myoclonus epilepsy (PME) patient related with SCARB2 mutation without renal impairment and review 27 SCARB2-related PME patients from 11 countries.
The patient was a 27-year-old man with progressive action myoclonus, ataxia, epilepsy, dysarthria and absence of cognitive deterioration. Renal functional test was normal. Electroencephalography (EEG) showed progressively slowed background activity and sporadic generalized spike-and-wave discharges. Electromyography (EMG) showed slowed motor and sensory nerve conduction velocities and distal motor latency delay accompanied by normal compound motor action potential (CMAP) and amplitudes of sensory nerve action potential (SNAP). The amplitude of cortical components of brainstem auditory-evoked potential (BAEP) was normal with slightly prolonged latencies. Generalized atrophy, ventricle enlargement and white matter degeneration was observed in brain magnetic resonance imaging (MRI). Open muscle biopsy and genetic analysis were performed. Two hundred healthy individuals were set for control. Quantitative real time PCR (qPCR), western blotting and immunofluorescence were carried out to evaluate the fate of the SCARB2 mRNA and lysosomal-membrane type 2 (LIMP2) protein level.
One homozygous mutation in SCARB2 gene (c.1187 + 5G > T) was identified in the patient. Each of his parents carried a heterozygous variant. This mutation was not detected among the healthy controls and predicted to be damaging or disease causing by prediction tools. qPCR revealed a significantly lower level of SCARB2 mRNA in peripheral blood cell of the proband compared with his parents and healthy control individuals. Muscle biopsy showed mild variation in fiber size. Western blotting and immunofluorescence detected an extremely weak signal of LIMP2 protein from skeletal muscle of the proband.
In this study, we identified a SCARB2-related PME patient with normal renal function and a novel homozygous splicing mutation. SCARB2 gene should be analyzed in patients with progressive action myoclonus, epilepsy, peripheral neuropathy, without cognitive deterioration or renal failure.
One Gram-stain-negative, aerobic, motile bacterial strain, 3-7
, was isolated from symptomatic canker bark tissue of
. 16S rRNA gene sequence data revealed that the novel isolate shared highest ...similarity with
DCY99
(98.8 %), and <96.5 % sequence similarity with all other species with validly published names. Growth occurred between 15 and 37 °C and at pH 6.0-9.0, and optimal growth occurred at 30 °C and pH 7.0-8.0. Nitrogen was produced from nitrates. The strain was positive for acetoin production and activity of catalase, oxidase,
-galactosidase, arginine dihydrolase and
-glucosidase. The major fatty acids were C
, C
ω7
and/or C
ω6
. The polar lipids of the novel isolate included diphosphatidylglycerol, phosphatidylethanolamine, phosphatidylglycerol, phosphatidylcholine, sphingoglycolipid, glycolipid, two uncharacterized phospholipids and two uncharacterized lipids. The respiratory quinones detected in isolate 3-7
were Q-10 (96.9 %) and Q-9 (3.1 %). The DNA G+C content was 65.1 mol%. Based on phenotypic and genotypic characteristics, the isolate represents a novel species within the genus
, for which the name
is proposed. The type strain is 3-7
(=CFCC 11561
=LMG 30138
).
In history, semiconductor-metal-semiconductor transistor (SMST) was proposed for frequency improvement. However, a general fabrication method is still missing due to the unsolved technological ...problem of deposition of a general crystalline semiconductor on metal, and a thinner metal base is also difficult to be fabricated with high quality. Recently, due to the atomic thickness of graphene, the concept of semiconductor-graphene-semiconductor transistor (SGST) has emerged which leads to the renaissance of SMST, however the experimental study is in its infancy. In this letter, SMST and SGST are fabricated using Si membrane transfer. It is found the common base current gain can be improved from about 0.5% in a Si-Au-Si transistor to about 1% in a Si-Gr-Ge one, and to above 10% in a Si-Gr-Si one, which is attributed to both the ultra-thin thickness and the quantum capacitance effect of graphene.
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