X-linked adrenoleukodystrophy (X-ALD) is the most common inherited disorder of peroxisomal metabolism which is characterized by demyelination of central nervous system, impaired adrenal cortex and ...abnormal accumulation of very long chain fatty acids in body fluid and tissues. In this study, the clinical features and the genotype-phenotype relationship were investigated so as to help early diagnosis.
Clinical data of 89 Chinese patients with X-ALD were analyzed and mutation spectrums in 53 of the patients were investigated by polymerase chain reaction and DNA sequencing.
Of the 89 cases, 60 (67.4%) had childhood cerebral ALD (CCALD, mean age of onset was 6.5 years, range 2 - 10 years), 18 (20.2%) had adolescent cerebral ALD (ACALD, mean age of onset 12.1 years, range 11 - 19 years), 7 (7.9%) had adrenomyeloneuropathy (AMN, mean age of onset 23 years, range 6 - 39.5 years), and two cases were asymptomatic and another 2 had simple Addison's disease only. CCALD was the most common and severe phenotype, visual imp
We study the process \(e^{+}e^{-}\to\Lambda_{c}^{+}\bar{\Lambda}_c^{-}\) at twelve center-of-mass energies from \(4.6119\) to \(4.9509~\mathrm{GeV}\) using data samples collected by the BESIII ...detector at the BEPCII collider. The Born cross sections and effective form factors (\(|G_{\mathrm{eff}}|\)) are determined with unprecedented precision after combining the single and double-tag methods based on the decay process \(\Lambda_{c}^{+}\to pK^{-}\pi^{+}\). Flat cross sections around \(4.63~\mathrm{GeV}\) are obtained and no indication of the resonant structure \(Y(4630)\), as reported by Belle, is found. In addition, no oscillatory behavior is discerned in the \(|G_{\mathrm{eff}}|\) energy-dependence of \(\Lambda_{c}^{+}\), in contrast to what is seen for the proton and neutron cases. Analyzing the cross section together with the polar-angle distribution of the \(\Lambda_{c}^{+}\) baryon at each energy point, the moduli of electric and magnetic form factors (\(|G_{E}|\) and \(|G_{M}|\)) are extracted and separated. For the first time, the energy-dependence of the form factor ratio \(|G_{E}/G_{M}|\) is observed, which can be well described by an oscillatory function.
To assess the risk of male infertility in the offspring conceived through assisted reproductive technology (ART) byin vitroinductionof the differentiation of embryonic stem cells (ESCs) derived from ...the embryos of the couples with male asthenozoospermia and Robertsonian translocation (RT) into germ cells.
We established a CCRM16ESC line with the karyotype of 46, XY, +14, rob(13; 14) (q10; q10) from the embryo donated by a patientwithasthenozoospermiaand RT and his wife by isolation of the inner cell mass of blastula, culturing, passaging, and amplification,followed by in vitro induction and differentiationof the ESCs into germ cells with ratinoic acid(RA) at 2 mol/L. Then, we analyzed the process of differentiation and the expressions of its related genes and compared them with those in the normal CCRM23ESCs.
CCRM16 showed the typical characteristics of ESCs, expressing the pluripotency makers of NANOG, OCT4, TRA-1-181 and SSEA4, forming embryoid bodies, and differentiating into three germlayer tissues in vit
To study the preventive and therapeutic effects of recombinant IFN-alpha2b for nasal spray on SARS-CoV infection in Macaca mulata (rhesus monkey).
Ten rhesus monkeys were divided into two groups, 5 ...in interferon group, and 5 in control group. Before and after SARS-CoV attack, the virus was detected in samples such as pharyngeal swab in all the two groups by Real-time PCR (RT-PCR) and virus isolation was performed.
After virus attack, the level of SARS-CoV-specific IgG and neutralizing antibody were induced by SARS-CoV in the interferon group was weaker than in control group. Hematology items showed no apparent changes after virus attack in treated group. Through pathological examination, the morphology of the lung tissues of two Macaques in the treated group was normal, while the other three displayed the interstitial pneumonia with the thickened septum and infiltration with mononuclear cells. Among which, one monkey showed part of thickened septum fused with each other. These lesions in the interferon treate
Four 7,20-epoxy
ent-kaurane diterpenoids, xerophilusins G (
1) and I–K (
2–
4), were isolated from the leaves of
Isodon xerophilus, along with four known ones, enanderianin C (
5), rosthorin A (
6), ...longikaurin B (
7), and rabdoternin D (
8). Their structures were determined primarily using NMR spectroscopic techniques. The structure and stereochemistry of
3 were confirmed by X-ray crystallography. Compounds
4 and
7 exhibited broad cytotoxicity against four kinds of human tumor cells (K562, HL-60, HCT, and MKN-28 cells) in the range of 2.23–15.35 and 0.30–8.61 μg/ml, respectively.
Four 7,20-epoxy
ent-kaurane diterpenoids, xerophilusins G (1) and I-K (
2–
4), were isolated from the leaves of
Isodon xerophilus and their structures were determined primarily using NMR spectroscopic techniques.
To probe into clinical value of comprehensive program of acupuncture, moxibustion and massage as main for treatment of cervical spondylopathy of the nerve root type.
Five centers, single blind, ...randomized controlled method were used, 660 cases were divided into a treatment group of 317 cases and a control group of 311 cases. They were treated respectively with comprehensive program of acupuncture, moxibustion and massage as main, and comprehensive program of physical therapy as main. Establish syndrome detection scale and multiply dimensional effect assessment indexes, and evaluate the therapeutic effects and safety.
The cured rate, the cured-markedly effective rate were 42.9%, 64.4% in the treatment group, respectively, better than 16.7%, 36.3% in the control group (P<0.01); after treatment of 2 weeks, clinical symptoms improved in the both groups, but the treatment group was better than the control group in the improvement degrees of neck-shoulder-limb pain, neck rigidity, abnormality of cervical anteflexio
To study the blockade of paeoniflorin (Pae) on I(Na) in the acutely isolated hippocampus neurons of mice.
The whole-cell patch clamp technique was used.
Pae inhibited I(Na) in frequency-dependent and ...concentration-dependent manners, with an IC50 of 271 micromol/L. Pae 0.3 mmol/L shifted the activation potential of the maximal I(Na) from -40 mV to -30 mV, shifted the steady-state activation and inactivation curves toward more positive and negative potentials by 10.8 mV, and 18.2 mV, respectively, and postponed the recovery of I(Na) inactivation state from (4.2+/-0.7) ms to (9.8+/-1.2) ms.
Pae inhibited I(Na) in mouse hippocampus neurons.
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