C, N, and P stoichiometry for leaf litter of 62 woody species in a subtropical evergreen broadleaved forest.

To understand leaf litter stoichiometry in a subtropical evergreen broadleaved forest, we measured the contents of carbon (C), nitrogen (N) and phosphorus (P) in leaf litters of 62 main woody species in a natural forest of C. kawakamii Nature Reserve in Sanming, Fujian Province. Differences in leaf litter stoichiometry were analyzed across leaf forms (evergreen, deciduous), life forms (tree, semi-tree or shrub), and main families. Additionally, the phylogenetic signal was measured by Blomberg's K to explore the correlation between family level differentiation time and litter stoichiometry. Our results showed that the contents of C, N and P in the litter of 62 woody species were 405.97-512.16, 4.45-27.11, and 0.21-2.53 g·kg-1, respectively. C/N, C/P and N/P were 18.6-106.2, 195.9-2146.8, and 3.5-68.9, respectively. Leaf litter P content of evergreen tree species was significantly lower than that of deciduous tree species, and C/P and N/P of evergreen tree species were significantly higher than those of deciduous tree species. There was no significant difference in C, N content and C/N between the two leaf forms. There was no significant difference in litter stoichiometry among trees, semi-trees and shrubs. Effects of phylogeny on C, N content and C/N in leaf litter was significant, but not on P content, C/P and N/P. Family differentiation time was negatively correlated with leaf litter N content, and positively correlated with C/N. Leaf litter of Fagaceae had high C and N contents, C/P and N/P, and low P content and C/N, with an opposite trend for Sapidaceae. Our findings indicated that litter in subtropical forest had high C, N content and N/P, but low P content, C/N, and C/P, compared with the global scale average value. Litter of tree species in older sequence of evolutionary development had lower N content but higher C/N. There was no difference of leaf litter stoichiometry among life forms. There were significant differences in P content, C/P, and N/P between different leaf forms, with a characteristic of convergence.

A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report.

Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene variants responsible for ID. The present report described a 1.7-year-old female patient who had severe ID with the specific features of delayed motor development, language disorders and abnormal facial features. Exome analysis identified a novel pathogenic variant of the SETD5 gene [c.2025_2026delAG (p.Gly676Valfs*2)]. The variant was a frameshift mutation, causing termination of the protein in advance. These findings indicated that this mutation of the SETD5 gene may be a genetic cause for ID. The present study aimed to provide a meaningful exploration of ID and the identification of clinical core genetic pedigrees.

Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.

BACKGROUND: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring. METHODS: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms. Plasma concentrations of folate, homocysteine (Hcy), S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) and genotypes and alleles distributions of 52 SNPs in 8 genes were compared for 61 women with NTDs-affected offspring and 61 women with healthy ones. RESULTS: There were significant differences between groups with regard to plasma folate, SAM, SAH and SAM/SAH levels. Logistic regression results revealed a significant association between maternal plasma folate level and risk of NTDs in the offspring. For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). For MTHFR rs1801133 polymorphism, mothers having TT and CT genotypes were more likely to affect NTDs in the offspring (OR = 4.105, 95%CI: 1.271-13.258; OR = 3.333, 95%CI: 1.068-10.400). Moreover, mothers carrying T allele had a higher risk of NTDs in the offspring (OR = 1.798, 95%CI: 1.070-3.021). For MTRR rs1801394 polymorphism, the frequency of G allele was significantly higher in cases than in controls (OR = 1.763, 95%CI: 1.023-3.036). Mothers with NTDs-affected children had higher AG genotype in RFC1 rs1051226 polymorphism than controls, manifesting an increased risk for NTDs (OR = 3.923, 95%CI: 1.361-11.308). CONCLUSION: Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs.

Choroid Plexus Papilloma of Bilateral Lateral Ventricle in an Infant Conceived by in vitro Fertilization.

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system. Bilateral lateral ventricle CPP is extremely uncommon. In this case report, we described a case of bilateral lateral ventricle CPP in a 4-month-old female patient conceived by in vitro fertilization (IVF). Neurological examination and imaging were performed. In neurological examination, meningeal irritation signs and sunset phenomenon were positive. Brain computed tomography (CT) and magnetic resonance imaging (MRI) displayed masses located in the trigone of the bilateral lateral ventricle with hydrocephalus. Contrast-enhanced MRI showed intense homogeneous enhancement. The diagnoses of bilateral lateral ventricle CPP related to hydrocephalus and extravasation of cerebrospinal fluid (CSF) were made. Repeated surgical procedures via parietotemporal craniotomy were performed, and the diagnosis was confirmed by histopathology examination. The patient presented with delayed development during a follow-up period of 1 year. In conclusion, imaging is an effective approach of investigation. CPP could be highly suspected according to the features of hydrocephalus, lobulated appearance, and homogeneous enhancement on imaging. Total surgical removal is a valid curative method for CPP.

Domestication and geographic origin of Oryza sativa in China: insights from multilocus analysis of nucleotide variation of O. sativa and O. rufipogon.

Previous studies have indicated that China is one of the domestication centres of Asian cultivated rice (Oryza sativa), and common wild rice (O. rufipogon) is the progenitor of O. sativa. However, the number of domestication times and the geographic origin of Asian cultivated rice in China are still under debate. In this study, 100 accessions of Asian cultivated rice and 111 accessions of common wild rice in China were selected to examine the relationship between O. sativa and O. rufipogon and thereby infer the domestication and evolution of O. sativa in China through sequence analyses of six gene regions, trnC-ycf6 in chloroplast genomes, cox3 in mitochondrial genomes and ITS, Ehd1, Waxy, Hd1 in nuclear genomes. The results indicated that the two subspecies of O. sativa (indica and japonica) were domesticated independently from different populations of O. rufipogon with gene flow occurring later from japonica to indica; Southern China was the genetic diversity centre of O. rufipogon, and the Pearl River basin near the Tropic of Cancer was the domestication centre of O. sativa in China.

Clinical observation on the treatment of post-cesarean hypogalactia by auricular points sticking-pressing.

OBJECTIVE: To explore the effect of auricular points sticking-pressing (APSP) in treating post-cesarean hypogalactia (PCH). METHODS: A randomized, controlled, single-blinded clinical trial on 116 patients with PCH was carried out. They were equally assigned to the treatment group and the control group. The treatment group received APSP, with the pellets pressed for 4 times daily, while the control group was only asked to do lactation to meet infant demand. The therapeutic efficacy and the changes in scores of traditional Chinese medicine (TCM) syndrome, volume of milk secretion, supplementary feeding and serum level of prolactin (PRL) in the two groups were estimated and compared after the patients had been treated for 5 days. RESULTS: The cured and markedly effective rate in the treatment group was 89.7%, which was significantly higher than that in the control group (27.6%, P<0.05), 95% CI (0.1543, 0.2527). The improvement of TCM syndrome, elevation of milking volume, decrease of the supplementary feeding and increase of PRL level revealed in the treatment group were all superior to those in the control group, showing statistical significance (P<0.01). CONCLUSION: APSP shows an apparent efficacy in treating PCH and is worthy of application in clinical practice.

[Clinical observation on integrative Chinese and Western medicine in treating nontumorous vulval intraepithelial lesion].

OBJECTIVE: To assess the clinical effect of integrative Chinese and Western medicine in treating nontumorous vulval intraepithelial lesion (NIEL). METHODS: One hundred patients of NIEL, with their diagnosis confirmed by pathologic examination, were equally assigned to two groups randomly, the treatment group and the control group. The treatment group was treated by Chinese recipe consisting of herbs for nourishing Gan-Shen, it was decocted for 3 times, the foregoing two decoctions for oral intake, and the latter one (500 mL) for hip bathing 5-10 min every night before sleep. Besides, the self-formulated preparation Jingan oil (composed of aureomycin and glycerine, etc. ), was locally applied twice every day. The control group was treated only by local applying of Jingan oil and a 5-10 min hip bathing with warm water every night. The course for both groups was 2 months. Efficacy of the treatment was assessed at the end of the therapeutic course and after a 2-month follow-up, depending on the changes of local lesion degree, vulval symptoms as pain and itching, estrogen and progestin receptors in the lesion, and the scores of symptoms. RESULTS: The total clinical effective rate was 94% (47/50) in the treatment group and 66% (33/50) in the control group. The severity of local lesion degree, symptoms of pain and itching and the scores of symptoms were significantly improved in both groups, as compared with those before treatment (all P <0.01). However, comparison between groups showed that the improvement was better in the treatment group. The positive rates of estrogen and progestin receptors in the local lesions of the two groups showed insignificantly statistical difference. CONCLUSION: The integrative medical treatment can effectively alleviate the NIEL and improve the relevant clinical symptoms.