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Background: Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the clinical spectrum varieties may heavily depend on the extent of the genomic deletion. The aim of this study is to identify the detailed breakpoints location and the deleted genes result from the r18. Case presentation: Here we describe a detailed diagnosis of a seven-year-old Chinese girl with a ring chromosome 18 mutation by a high-throughput whole-genome low-coverage sequencing approach without karyotyping and other cytogenetic analysis. This method revealed two fragment heterozygous deletions of 18p and 18q, and further localized the detailed breakpoint sites and fusion, as well as the deleted genes. Conclusions: To our knowledge, this is the first report of a ring chromosome 18 patient in China analyzed by wholegenome low-coverage sequencing approach. Detailed breakpoints location and deleted genes identification help to estimate the risk of the disease in the future. The data and analysis here demonstrated the feasibility of next-generation sequencing technologies for chromosome structure variation including ring chromosome in an efficient and cost effective way. [ABSTRACT FROM AUTHOR]

Mutations in the LAMA2 gene cause laminin α-2 (merosin)-deficient congenital muscular dystrophies, which are autosomal recessive muscle disorders. Laminin α-2 is widely expressed in the basement membrane of skeletal muscle, the myotendinous junctions and extra-synaptically at neuromuscular synapses. In the present study, target next-generation sequencing was used for mutation detection, and polymerase chain reaction (PCR) analysis and Sanger sequencing were used in the identification of small deletions. Subsequently, quantitative PCR (qPCR) was performed to characterize the identified deletion encompassing exon five of the LAMA2 gene. Two causative mutations were identified using target region sequencing which provided the additional information required to facilitate clinical diagnosis. One heterozygous mutation (p. Lys682LysfsX22) was identified and confirmed by Sanger sequencing, and another heterozygous mutation (Exon5del) was found and validated by qPCR. Co-segregation analysis indicated that the Exon5del mutation originated from the proband's mother and the previously reported frameshift mutation (p. Lys682LysfsX22) was inherited from the proband's father. To the best of our knowledge, the present study was the first to report an entire exon five deletion in the LAMA2 gene. [ABSTRACT FROM AUTHOR]

In order to find a low-cost adsorbent for removal of nitrobenzene from groundwater, we prepared samples containing nitrobenzene with groundwater typical in Jilin province, used pretreated furnace ash and slags as adsorbents, measured heavy metals leached out from furnace ash and slags and investigated adsorptivity of nitrobenzene on the adsorbents. While the experimental results indicate that the equilibrium data are well modeled with the pseudo-second-order kinetic model for all adsorbents, the intraparticle diffusion model can be only applied to furnace ash. Furnace ash has a larger adsorption capacity than furnace slags due to its relatively larger specific surface area. According to the Freundlich isotherm model, furnace ash and slags with the grain size below 1.25 mm represent beneficial adsorption for nitrobenzene, but slags of other grain sizes do not represent beneficial adsorption; however, their correlation coefficients can be improved using the modified Freundlich model. Disposal of furnace ash and slags can be made safe by calcination at 300°C for 1 h. Through cost-effectiveness analysis, we come to the conclusion that furnace ash and slags can be only used for the remediation of water or groundwater, and furnace ash can be used as a low-cost adsorbent if the removal of turbidity and leachable heavy metals are considered beforehand. [ABSTRACT FROM AUTHOR]

Aim: Primary clear cell carcinoma of the liver (PCCCL) is a subgroup of primary hepatocellular carcinoma (HCC), pathologically characterized by diffuse clear cells of the tumor, showing a clear cytoplasm that does not stain with hematoxylin–eosin. At present, its clinicopathological and prognostic features are not fully clarified. This study aims to clarify the clinicopathological and prognostic features of PCCCL. Methods: The clinicopathological data of 43 patients with PCCCL treated with hepatectomy in our hospital from January 1999 to December 2003 were retrospectively analyzed. Results: The χ2-test showed a positive rate of hepatitis C virus (HCV) infection and capsule formation in the PCCCL group, which was markedly higher than in the common type HCC (CHCC) group ( P = 0.000 and P = 0.005). Meanwhile, the vascular invasion rate was notably lower in the PCCCL group, but there were no significant differences between the twogroups ( P = 0.129). The Kaplan–Meier method showed that the 1-, 3-, and 5-year survival rates were significantly higher in the PCCCL group than in the CHCC group ( P = 0.021). The prognosis of patients in the PCCCL group was related to capsule formation, vascular invasion, liver cirrhosis, and clear cell ratio. The 1-, 3-, and 5-year survival rates were markedly higher in the group with a higher clear cell ratio than in the group with a lower clear cell ratio ( P = 0.011). Conclusion: The notable clinicopathological features of the patients in the PCCCL group included a higher rate of HCV infection, capsule formation, and a lower rate of vascular invasion. The prognosis was better than that of the patients in the CHCC group and related to the ratio of clear cells. [ABSTRACT FROM AUTHOR]

The objective of this study was to use statistically based experimental designs for the optimization of xylanase production from Alternaria mali ND-16. Ten components in the medium were screened for nutritional requirements. Three nutritional components, including NH4Cl, urea, and MgSO4, were identified to significantly affect the xylanase production by using the Plackett–Burman experimental design. These three major components were subsequently optimized using the Doehlert experimental design. By using response surface methodology and canonical analysis, the optimal concentrations for xylanase production were: NH4Cl 11.34 g L−1, urea 1.26 g L−1, and MgSO4 0.98 g L−1. Under these optimal conditions, the xylanase activity from A. mali ND-16 reached 30.35 U mL−1. Verification of the optimization showed that xylanase production of 31.26 U mL−1 was achieved. [ABSTRACT FROM AUTHOR]

Rac1 and Cdc42 are members of the Rho family of small GTPases that play essential roles in diverse cellular functions, including cell migration. The activities of these Rho family proteins are controlled by growth factor receptor activation and cell‐ECM interactions. Here, we show that maspin, a well‐documented tumor suppressor gene, also controls cell motility through inhibiting Rac1/Cdc42 activity. Using the GST‐PAK and GST‐Rho binding protein pull‐down assays for GTP‐bound Rac1, Cdc42, and RhoA, we showed that treatment of MDA‐MB‐231 tumor cells with recombinant maspin for a short time period significantly inhibited the activity of Rac1 and Cdc42, but not RhoA. The reactive site loop (RSL) within maspin protein is the functional domain involved in the inhibition. Maspin mutants with the RSL deleted or a point mutation in the RSL region lost their inhibitory activity. We further examined the ability of maspin to inhibit Rac1‐ and Cdc42‐mediated signaling pathways and transcription factors. Treatment of MDA‐MB‐231 cells with maspin led to the inhibition of JNK kinase activity as assayed by immuno‐kinase assays. In addition, the AP‐1 transcription activity downstream of JNK kinase pathway was also reduced. Together, we have identified Rac1 and Cdc42 as the downstream targets that mediate the inhibition of mammary tumor cell migration by maspin. Cell Motil. Cytoskeleton 2007. © 2007 Wiley‐Liss, Inc. [ABSTRACT FROM AUTHOR]

Background & Objective: Nonsense mutations in SMC1A have been reported only in females with cluster seizures, all of whom have been described as drug-resistant epilepsy. Here, we aim to explore the use of ketogenic diet treatment. Methods: The clinical data of female patients with de novo nonsense mutations in SMC1A were collected and analyzed. The clinical data was recruited and analyzed. The peripheral blood of children and their parents was collected. The next generation sequencing was used to find suspected pathogenic mutations and all the confirmed mutations were verified by Sanger sequencing. Results: Three patients with heterozygous de novo mutations in SMC1A gene were reviewed. All patients were females, presenting with seizure onset at age between 2.5 to 11 months old. One patient had mild developmental delay. One had moderate developmental delay. Another had severe developmental retardation. None of the patients had a clinical diagnosis of Cornelia de Lange syndrome. All three patients had prominent clinical features of cluster seizures. All the nonsense mutations were predicted damaging SMC1A protein by PolyPhen-2 HVAR. All the patients were treated with multiple antiepileptic drugs but their seizures remained refractory. When initiated with ketogenic diet, they became seizure free within 3 to 4 weeks. Conclusion: SMC1A nonsense mutations can cause early onset epilepsy only in females with cluster seizures. These patients are characterized by drug-resistant epilepsy, but all our three patients have good effect on ketogenic diet add-on therapy. [ABSTRACT FROM AUTHOR]