[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].

This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 gene. The index case involves a 5-year-old twin brother, who, during a routine examination, exhibited elevated intraocular pressure persisting for over a month. The peak intraocular pressure reached approximately 25 mmHg (1 mmHg=0.133 kPa) in both eyes, with a corneal diameter of less than 10 mm. Ocular examination revealed an enlarged cup-to-disc ratio, and optical coherence tomography (OCT) demonstrated thinning of the retinal nerve fiber layer and ganglion cell layer. Ultrasound biomicroscopy combined with gonioscopy indicated partial angle closure and abnormal anterior chamber angle development. The ocular manifestations in the twin brother were consistent with those observed in the twin sister. The clinical diagnosis was bilateral developmental glaucoma with microcornea. Genetic sequencing identified two novel compound heterozygous mutations in the ADAMTS18 gene in the twins: Mutation 1 (M1) involving the variant site 1 (c.3436C>T:p.R1146W) and Mutation 2 (M2) involving the variant site 2 (c.1454T>G:p.F485C). Ocular examinations of four additional family members were normal. Genetic testing revealed that the twins' father and sister carried M1, while the index case's mother and brother carried M2. This report underscores a unique association between ADAMTS18 gene mutations and developmental glaucoma with microcornea within a familial context, emphasizing the importance of genetic screening for early diagnosis and targeted management strategies.

Significance of sarcomere gene mutation in patients with dilated cardiomyopathy.

Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, which can facilitate the implementation of preventive measures by and within patient's families. Here, we investigated the underlying genetic mutations involved in the cause of patients with DCM. This prospective study included 240 patients with idiopathic DCM and 240 healthy volunteers. Subject clinical data were collected and polymerase chain reaction amplification was carried out on subject DNA for three candidate genes tropomyosin (TPM1), cardiac troponin T type-2 (TNNT2), and nuclear lamina protein A/C. Single nucleotide polymorphism (SNP) loci were detected in the TPM1 (rs1071646) and TNNT2 (rs3729547) genes, respectively. The genotype distributions and allele frequencies were found to satisfy Hardy-Weinberg equilibrium, which indicated that the group was representative. Statistically significant differences were found between the variant frequencies in the two SNP loci between the Kazakh patients with idiopathic DCM (IDCM) and healthy volunteers. A significant difference in the genotype distributions (P = 0.000) and allele frequencies (P = 0.000) of SNP rs1071646, and another significant difference in the genotype distributions (P = 0.000) and allele frequencies (P = 0.039) of SNP rs3729547 between Kazakhs with IDCM and Kazakh controls. These results suggest that the TPM1 (rs1071646) and TNNT2 (rs3729547) gene variants might represent risk factors for patients with DCM in the Kazakh population.

Sterilization effect of atmospheric plasma on Escherichia coli and Bacillus subtilis endospores.

AIMS: Escherichia coli and Bacillus subtilis spores were treated with an atmospheric plasma mixture created by the ionization of helium and oxygen to investigate the inactivation efficiency of a low-temperature plasma below 70 degrees C. METHODS AND RESULTS: An electrical discharge plasma was produced at a radio frequency (RF) of 13.56 MHz, connected to a perforated circular electrode with a discharge spacing of 1-15 mm. The discharge gas was helium with 0-2% oxygen. For the plasma treatment, a dried E. coli cell or B. subtilis endospore suspension on a cover-glass was exposed to oxygen downstream of the plasma from holes in an RF-powered electrode. The sterilization effect of the RF plasma was highest with 0.2% oxygen, corresponding to the maximum production of oxygen radicals. CONCLUSIONS: Oxygen radicals generated by RF plasma are effective for the destruction of bacterial cells and endospores. SIGNIFICANCE AND IMPACT OF THE STUDY: Low-temperature atmospheric plasma can be used for the disinfection of diverse objects, especially for the inactivation of bacterial endospores.

Study of total quantity control of air pollutants in planning industrial district.

The total quantity control of pollutant emissions for an industrial district is determined by coefficient (A) method (Qian, 1990). It is suggested that average daily concentrations of air pollutants should be estimated in relation with metrological parameters, such as wind directions, wind speed and atmospheric stability in the period of monitoring by Gaussian model (SEPB, 1991), and that the sources of pollution should be redistributed on the basis of the result of monitoring with a view improving local atmosphere environment.

[Isolation and structure determination of xanthone glycosides of Anemarrhena asphodeloides].

Xilingzhimu, the rhizomes of Anemarrhena asphodeloides Bunge (Liliaceae), has been prescribed as antipyretic, anti-inflammatory, diuretic and hypoglycemic agents in Chinese traditional medicine. In this paper, two xanthone glycosides I and II, were isolated from Xilingzhimu by conventional method. The structures of I and II were identified on the basis of chemical reactions and UV, IR, 1HNMR, 13CNMR and DEPT. Compound I was identified as mangiferin and II is a new compound, named neomangiferin. Its structure is 7-O-beta-D-glucopyranosyl-mangiferin.

Regulatory action of Astragalus saponins and buzhong yiqi compound on synthesis of nicotinic acetylcholine receptor antibody in vitro for myasthenia gravis.

With overall analysis of symptoms and signs of myasthenia gravis (MG) basing on "Pi (Spleen) Deficiency" [symbol: see text] theory and with years of our clinical experience in treating MG, we performed a pharmacological study of Astragalus saponins and Buzhong Yiqi Compound (Tonic granulae invigorating vital energy) in 14 peripheral blood mononuclear cell (PBMNC) cultures from 10 MG patients. PBMNG from two groups of patients given dexamethasone (Dxm) and cobalt 60 (60Co) treatment were used as controls. The results showed that water soluble Astragalus saponins significantly reduced the titer of nicotinic acetylcholine receptor antibodies (nAchR-Ab) in the cell culture supernatants, from 418.8-2328 to nil in 6 cases, and from 1143-1235 to 43-157 fmol/ml in 2 cases, and that Buzhong Yiqi compound also had inhibitory immunoregulatory action.

[Studies on the phenolic derivatives from Galeola faberi Rolfe].

Eight phenolic derivatives, p-hydroxybenzaldehyde (I), 4,4'-dihydroxy-diphenyl methane(II), 2,4-bis(4-hydroxybenzyl) phenol (III), 5-methoxy-3-(2-phenyl-E-ethenyl)-2,4-bis (4-hydroxybenzyl) phenol (IV), p-hydroxybenzyl alcohol (V), 4-(beta-D-glucopyranosyloxy) benzyl alcohol (gastrodin) (VI), bis[4-(beta-D-glucopyranosyloxy) benzyl] (S)-2-isopropylmalate (VII), bis [4-(beta-D-glucopyranosyloxy) benzyl] (S)-2-sec-butylmalate (VIII) were isolated from the rhizome of Galeola faberi Rolfe for the first time. IV and VIII are new compounds. III is a new natural compound.