[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].

The proband presented with bilateral congenital non-progressive ptosis and limitation of eye rotation since childhood. The diagnosis was congenital fibrosis of the extraocular muscles. A new KIF21 pathogenic mutation locus was found. It was a KIF21A-ex20 c.2821C>T (p.Arg941Trp) heterozygous missense mutation, which caused the disease in this family.

Influences of different manure N input on soil ammonia-oxidizing archaea and bacterial activity and community structure in a double-cropping rice field.

AIMS: The short-term effects of different organic manure nitrogen (N) input on soil ammonia-oxidizing archaea (AOA) and bacterial (AOB) activity and community structure at maturity stages of early rice and late rice were investigated in the present paper, in a double-cropping rice system in southern China. METHODS AND RESULTS: A field experiment was done by applying five different organic and inorganic N input treatments: (i) 100% N of chemical fertilizer (M0), (ii) 30% N of organic manure and 70% N of chemical fertilizer (M30), (iii) 50% N of organic manure and 50% N of chemical fertilizer (M50), (iv) 100% N of organic manure (M100) and (v) without N fertilizer input as control (CK). Microbial community changes were assessed using fatty acid methyl esters, and ammonia oxidizer (AO) changes were followed using quantitative PCR. The results showed that AOA were higher than that of AOB based upon amoA gene copy at maturity stages of early rice and late rice. Also, the abundance of AOB and AOA with M30, M50 and M100 treatments was significantly higher than that of CK treatment. Manure N input treatments had significant effect on AOB and AOA abundance, and a higher correlation between AOB and manure N input was observed. AOB correlated moderately with soil organic carbon content, and AOA correlated moderately with water-filled pore space. CONCLUSIONS: This study found that abundance of AOB and AOA was increased under the given organic N conditions, and the soil AOB and AOA community and diversity were changed by different short-term organic manure N input treatments. SIGNIFICANCE AND IMPACT OF THE STUDY: Soil microbial community and specific N-utilizing microbial groups were affected by organic manure N input practices.

Risk of systemic lupus erythematosus in patients with human papillomavirus infection: a population-based retrospective cohort study.

BACKGROUND: Viral infection contributing to systemic lupus erythematosus (SLE) development has been largely reported. However, the SLE risk in patients with human papillomavirus (HPV) infection is unknown. METHODS: Data were retrieved from the Longitudinal Health Insurance Database (2000) in Taiwan. We identified 43,567 patients with HPV infection and 174,268 age- and sex-matched uninfected controls from 2002 to 2012. Individuals were followed up from index date (first date of diagnosis with HPV) until the occurrence of SLE, at the end of the study (December 2013), or when they were withdrawn from the insurance program. The incidence rate ratio (IRR) was calculated using the univariate Poisson regression. The adjusted hazard ratios (aHRs) were calculated, and sensitive and subgroups analyses were also conducted. RESULTS: Compared with the non-HPV controls, the IRR of SLE in HPV patients was 1.52 (95% confidence interval (CI): 1.09-2.12). The risk of SLE in HPV-infected individuals was significantly high (aHR: 1.48, 95% CI: 1.06-2.06) after adjusting for age, sex, and comorbidities. Men aged between 16 and 45 years were more susceptible to developing SLE (aHR: 21.57, 95% CI: 2.52-184.60, p = 0.0051). CONCLUSION: Our study showed a significantly higher risk of SLE among HPV-infected patients, especially in men aged between 16 and 45 years.

Current views of chromosomal abnormalities in pediatric acute myeloid leukemia (AML).

Chromosomal abnormalities are an attractive avenue for the screening of various disorders especially related to carcinogens like acute myeloid leukemia (AML). The cytogenetic findings like Karyotypic patterns are common in pediatric patients. On the other hand, monosomal karyotype (MK) and complex karyotype (CK) are more common in older patients. Further, recent studies have revealed direct proportion between the number of chromosome abnormalities and mortality rates in both pediatric as well as old patients affected by AML. Moreover, to be specific 5q, 7q and/or 17p loss lead to higher mortality rates in comparison to loss of to MK.  The present review article would put light on current views of important chromosomal changes during AML, especially in pediatric patients.

In situ preservation of the inferior parathyroid gland during central neck dissection for papillary thyroid carcinoma.

BACKGROUND: Postoperative hypocalcaemia due to dysfunction of the parathyroid glands is the most common complication after total thyroidectomy plus central neck dissection (CND). There is a lack of surgical techniques described to help preserve the inferior parathyroid gland in situ during CND. The objective of this study was to introduce the 'TBP layer' (layer of thymus-blood vessel-inferior parathyroid gland) concept for preserving the inferior parathyroid gland in situ during CND, and to evaluate its effectiveness. METHODS: The study group included patients with primary papillary thyroid cancer who underwent total thyroidectomy with CND using the new surgical concept between January and December 2014. The control group included sex- and age-matched patients who underwent conventional total thyroidectomy with CND between January 2012 and December 2013. The proportion of inferior parathyroid glands preserved in situ and postoperative hypoparathyroidism rates in the two groups were compared. RESULTS: There were 181 patients in the study group and 306 in the control group. There were no significant differences between the groups in tumour size, multifocality, extrathyroidal extension, and number of harvested and metastatic central lymph nodes. The rate of inferior parathyroid gland preservation in situ was significantly improved from 37·9 to 76·3 per cent on the left side (P < 0·001), and from 52·0 to 77·9 per cent on the right side (P < 0·001), in the study group compared with the control group. The incidence of transient hypoparathyroidism decreased significantly from 35·0 to 7·2 per cent (P < 0·001). CONCLUSION: Applying the proposed surgical concept improved the rate of inferior parathyroid gland preservation in situ and decreased the incidence of transient postoperative hypoparathyroidism.

Effect of male body mass index on clinical outcomes following assisted reproductive technology: a meta-analysis.

Overweight and obese males might exhibit a great risk of infertility. However, according to the current studies, the association between elevated male body mass index (BMI) and the clinical adverse results after assisted reproductive technology (ART) remains controversial. Hence, we conducted a meta-analysis to evaluate the effects of raised male BMI on clinical outcomes following ART. PubMed, EMBASE and three Chinese databases were used to identify relevant studies. The primary outcome was clinical pregnancy rate. Secondary outcomes included live birth rate and sperm parameters. A total of 5262 male participants from 10 cohort studies were subjected to meta-analysis. Results indicated that overweight or obese had no significant impact on clinical pregnancy rate [in vitro fertilisation (IVF): odds ratio (OR), 0.73; 95% confidence interval (CI), 0.39-1.39; intracytoplasmic sperm injection (ICSI): OR, 1.03; 95% CI, 0.92-1.15], live birth rate (IVF: OR, 0.91; 95% CI, 0.78-1.06; ICSI: OR, 1.00; 95% CI, 0.50-1.99) and sperm concentration (SMD, -0.28; 95% CI, -0.65 to 0.08) compared with normal weight following IVF/ICSI treatments. Exclusion of any single study and almost all the sensitivity analyses showed that our results were reliable. At present, the role of male BMI in the process of ART is only partly understood and should be further investigated.

Serum levels of S-100ß correlate with the clinical status and severity of hypoxic-ischemic encephalopathy in neonates.

The clinical significance of serum S-100ß levels in neonates with hypoxic-ischemic encephalopathy (HIE), as a reference index to assess HIE severity, was evaluated in this study. On the basis of our strict inclusion and exclusion criteria, relevant high-quality case-control studies reporting the association between HIE and S-100ß protein were selected from electronic database searches. The STATA version 12.0 software was used for the statistical analyses. The database search initially retrieved 93 studies (37 in English and 56 in Chinese), and following a multistep screening process, 13 high-quality studies were eventually included in our meta-analysis. The 13 case-control studies included a total of 646 HIE neonates and 381 healthy controls. The results of this meta-analysis revealed that serum S-100ß levels in mild, moderate, and severe HIE neonates were significantly higher than those in healthy controls, and the differences were statistically significant. Importantly, the serum S-100ß levels increased incrementally with HIE severity. Our results support the hypothesis that S-100ß is an important biological indicator of HIE and serum S-100ß levels can be used as a reference index to assess HIE severity.

Electroacupuncture decreases the urinary bladder pressure in patients with acute gastrointestinal injury.

The present study investigates the effects of electroacupuncture (EA) on urinary bladder pressure (UBP) in patients with acute gastrointestinal injury (AGI). Twenty patients with AGI admitted to the First Hospital of Jiaxing intensive care unit from December 2011 to June 2013 were evaluated. Conventional group patients (n = 10) were administered moderate enteral nutritional support, and electroacupuncture group patients (n = 10) were administered enteral nutritional support followed by EA at bilateral Zusanli (ST-36), Shangjuxu (ST-37), Hegu (LI-4), and QuChi (LI-11) acupoints. UBP was then measured every 6 h and the serum creatinine once daily for 7 days. There were no statistically significant patient demographic differences in the study groups (P > 0.05). The initial UBP of both patient groups was ≥12 mmHg. On days 6 and 7, the UBP significantly decreased in the EA group compared to the conventional group (P < 0.05). The serum creatinine concentration on day 7 was significantly lower in the EA group than in the conventional group (P < 0.05). Based on these results, electroacupuncture contributed to gastrointestinal motility recovery in patients with AGI. This procedure may reduce UBP and provide organ-protective effects in AGI patients.

Trichostatin A and nuclear reprogramming of cloned rabbit embryos.

To investigate the influence of histone deacetylases on nuclear reprogramming after nuclear transfer, we treated the cloned embryos with a histone deacetylase inhibitor, Trichostatin A (TSA). In the present study, global changes in acetylation of histone H3-lysine 14, histone H4-lysine 12, and histone H4-lysine 5 were studied in rabbit in vivo fertilized embryos, somatic cell nuclear transfer (SCNT) embryos, and TSA-treated SCNT embryos. From the pronuclear to the morula stage, the deacetylation-reacetylation changes in acetylation of histone H3-lysine 14 and histone H4-lysine 12 occurred in both fertilized embryos and TSA-treated cloned embryos; however, the distribution pattern in untreated cloned embryos failed to display such changes. More interesting, the signal of acetylation of histone H4-lysine 12 in cloned embryos was detected in both the inner cell mass and the trophectoderm, whereas TSA-treated cloned embryos showed the same staining pattern as fertilized embryos and the staining was limited to the inner cell mass. The histone acetylation pattern of TSA-treated SCNT embryos appeared to be more similar to that of normal embryos, indicating that TSA could improve nuclear reprogramming after nuclear transfer.

Dose and behavioral context dependent inhibition of movement and basal ganglia neural activity by Delta-9-tetrahydrocannabinol during spontaneous and treadmill locomotion tasks in rats.

The effects of Delta-9-tetrahydrocannabinole (Delta-9-THC) on locomotor activities and related basal ganglia neural responses were investigated in rats. A multiple-channel, single unit recording method was used to record neuronal activity in the dorsal lateral striatum, the globus pallidus, the subthalamic nucleus, and the substantia nigra pars reticulata simultaneously during spontaneous movement and treadmill locomotion. Delta-9-THC treatment (0.05-2.0 mg/kg, i.p.) dose-dependently decreased spontaneous motor activity and altered walking patterns in treadmill locomotion in that stance time was increased and step number was decreased. In parallel with the behavioral effects, Delta-9-THC treatment inhibited neural activity across all four basal ganglia areas recorded during both motor tests. Further, this inhibition of basal ganglia neural activity was behavioral context-dependent. Greater inhibition was found during resting than during walking periods in the treadmill locomotion test. Delta-9-THC treatment also changed firing patterns in the striatum and globus pallidus. More neurons in these regions discharged in an oscillatory pattern during treadmill walking with Delta-9-THC, and the oscillatory frequency was similar to that of the step cycle. Synchronized firing patterns were found in few basal ganglia neurons in the control condition (approximately 1%). Synchronized firing patterns increased during the treadmill resting phase after Delta-9-THC treatment, but still represented a very small proportion of the total neural population (1.9%). The drug treatment did not change neural responses to the tone cue proceeding treadmill locomotion. This study demonstrates dose-dependent inhibitory effects of cannabinoid injection on motor activity. This effect may be related to the behavioral context-dependent inhibition observed in the basal ganglia system where CB1 receptors are densely distributed.

Neural responses in multiple basal ganglia regions during spontaneous and treadmill locomotion tasks in rats.

To investigate the role of basal ganglia in locomotion, a multiple-channel, single-unit recording technique was used to record neural activity simultaneously in the dorsal lateral striatum (STR), globus pallidus (GP), subthalamic nucleus (STN) and substantia nigra pars reticulata (SNr) during spontaneous and treadmill locomotion tasks in freely moving rats. Active and quiescent phases appeared alternately in a spontaneous movement session that lasted 60 min. Principal component analysis of the ensemble neural activity from each region revealed a close correlation with spontaneous motor activity. Most of the neurons in these four basal ganglia areas increased their firing rates during the active phase. In the treadmill locomotion task, the firing rates of neurons in all recording areas, especially in the STN, increased significantly during locomotion. In addition, neural responses related to tone cue, initiation and termination of treadmill were observed in a subset of neurons in each basal ganglia region. Detailed video analysis revealed a limb movement related neural firing, predominantly in the STR and the GP, during treadmill walking. However, the proportion of neurons exhibiting limb movement related firing was significantly greater only in the STR. A few neurons in the STR (4.8%) and the GP (3.4%) discharged in an oscillatory pattern during treadmill walking, and the oscillatory frequency was similar to the frequency of the step cycle. This study demonstrates a variety of neural responses in the major basal ganglia regions during spontaneous and forced locomotion. General activation of all major basal ganglia regions during locomotion is more likely to provide a dynamic background for cortical signal processing rather than to directly control precise movements. Implications of these findings in the model of basal ganglia organization are discussed.

Neuronal responses in the frontal cortico-basal ganglia system during delayed matching-to-sample task: ensemble recording in freely moving rats.

Electrophysiological recording of single neuron activity has been conducted in rats to investigate the patterns of distributed neuronal responses in the frontal cortico-basal ganglia system that code information during a spatial-delayed matching-to-sample task (DMTSt). Rats were trained to press one of the two retractable levers presented randomly as a sample response. The first valid nose-poke after a delay resulted in the presentation of both levers. Pressing the same lever as the sample lever led to a water reward (match to sample), whereas pressing the lever opposite the sample lever resulted in a time-out (house light turned off). One hundred seventy-one neurons in the medial prefrontal cortex (mPFC), 51 in the dorsal striatum (STR), and 93 in the nucleus accumbens (NAc) were recorded during DMTSt. Different patterns of neuronal responses were observed during different behavioral episodes (sample, delay, and match phases) in all three recording areas. Space-related neuronal responses specific to the side of the lever pressed were more often found in the sample phase than in the match phase in all three areas studied. Neuronal responses specific to either correct or error trials were observed with similar percentages in the mPFC and the NAc, while the incidence of correct/error-coded activity in the STR was lower. Ensemble neuronal activity that coded sample versus match lever presses was observed in three out of five rats in sets of trials with similar speed and trajectory of lever press. The results reveal specific patterns of neural responses in the frontal cortico-basal ganglia system in rats during the DMTSt and suggest the existence of specific neuronal coding for different behavioral events associated with a learned short-term memory process.

[In vivo studies on PGE2 production by human hepatocellular carcinoma xenografts in nude mice].

The PGE2 concentration of sera and tumor tissues in human hepatocellular carcinoma (hHCC) xenografts in nude mice was examined by radio-immuno-assay (RIA) and the effect of intraperitoneal administration of exogenous of PGE2 as well as indomethacin on tumor growth was studied. The results showed that: (1) Plasma and tumor tissue PGE2 levels of hHCC-bearing nude mice were significantly increased for 1 or 2 weeks after tumor inoculation. (2) Exogenous administration of indomethacin markedly suppressed the elevation of plasma and tissue PGE2 levels and prolonged the latent period of tumor growth. (3) Exogenous PGE2 shortened the latent period of tumor growth. This study indicates that there is intimate relation between PGE2 and hHCC growth.