A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China

Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4. LSS encoding lanosterol synthase (LSS) has been shown to cause hypotrichosis simplex, but the related mechanisms have not been elucidated to date. This study aims to find mutations in LSS from a Chinese family, among which a 21-year-old male patient and his 9-year-old sister were affected by hypotrichosis simplex.Methods: Dermoscopy and histological analysis were used to examine patients’ scalps, while exome sequencing was used to find the mutations in LSS.Results: The hair loss was only detected on the scalp of the proband and his sister, while other ectodermal structures were normal with no systemic abnormalities. Further, the exome sequencing identified a new homozygous mutation NM_002340.6 (LSS_v001):c.812T>C (p.(Ile271Thr)) in the LSS gene of the proband, which was also found in his sister. In addition, a heterozygous mutation of LSS was found in their asymptomatic parents. Finally, the possible protein structure of the mutational LSS was predicted.Conclusion: The hypotrichosis simplex reported here could be an autosomal recessive disease in this family. The mutation on LSS might reduce the enzyme activity of LSS, thus leading to the disease

Phenotypic Pattern-Based Assay for Dynamically Monitoring Host Cellular Responses to Salmonella Infections

The interaction between mammalian host cells and bacteria is a dynamic process, and the underlying pathologic mechanisms are poorly characterized. Limited information describing the host-bacterial interaction is based mainly on studies using label-based endpoint assays that detect changes in cell behavior at a given time point, yielding incomplete information. In this paper, a novel, label-free, real-time cell-detection system based on electronic impedance sensor technology was adapted to dynamically monitor the entire process of intestinal epithelial cells response to Salmonella infection. Changes in cell morphology and attachment were quantitatively and continuously recorded following infection. The resulting impedance-based time-dependent cell response profiles (TCRPs) were compared to standard assays and showed good correlation and sensitivity. Biochemical assays further suggested that TCRPs were correlated with cytoskeleton-associated morphological dynamics, which can be largely attenuated by inhibitions of actin and microtubule polymerization. Collectively, our data indicate that cell-electrode impedance measurements not only provide a novel, real-time, label-free method for investigating bacterial infection but also help advance our understanding of host responses in a more physiological and continuous manner that is beyond the scope of current endpoint assays

Observation of Fungi, Bacteria, and Parasites in Clinical Skin Samples Using Scanning Electron Microscopy

This chapter highlights the description of the clinical manifestation and its pathogen and the host tissue damage observed under the Scanning Electron Microscope, which helps the clinician to understand the pathogen’s superstructure, the change of host subcell structure, and the laboratory workers to understand the clinical characteristics of pathogen-induced human skin lesions, to establish a two-way learning exchange database with vivid image

Developing rice fish culture in shallow waters of lakes

Meeting: National Rice Fish Farming Systems Symposium, 4-8 Oct. 1988, Wuxi, CNIn IDL-1614

An Analysis of the Malassezia Species Distribution in the Skin of Patients with Pityriasis Versicolor in Chengdu, China

Pityriasis versicolor (PV) is a common clinical problem associated with Malassezia species (Malassezia spp.). Controversies remain regarding the specific species involved in the development of PV. This study analyzed the difference in Malassezia spp. distribution in lesional and nonlesional skin in Chinese PV patients. A paired design was applied. Lesional and nonlesional scales from 24 cases were collected; real-time fluorescence quantitative PCR was used to detect 10 different Malassezia spp. In lesional skin, the highest detection rates were for M. globosa (95.8%), M. restricta (91.7%), and M. sympodialis (50.0%). In nonlesional skin, the highest detection rates were for M. globosa (87.5%), M. restricta (79.2%), and M. dermatis (33.3%). A significant difference in the detection rate was only found for M. sympodialis (50.8% versus 20.8%, P=0.04). Compared with nonlesional skin, the amount of M. globosa, M. restricta, and M. sympodialis in lesional skin was significantly higher (3.8±1.3,   2.5±1.1, and 3.2±1.6 times higher, resp.). The results of this study do not indicate that M. globosa and M. restricta are directly correlated with PV development; however, M. sympodialis is more likely related to PV development in Chinese individuals

Effect of Baduanjin exercise on cerebral blood flow and cognitive frailty in the community older adults with cognitive frailty: A randomized controlled trial

Objectives: Regular Baduanjin exercise training has been shown to be beneficial to the physical and cognitive health of older adults, but the underlying mechanisms remain to be investigated. This study examined the influence of Baduanjin on cerebral hemodynamics in community-dwelling older adults with cognitive frailty. Design: Randomized controlled trial. Methods: A total of 102 eligible participants were randomly allocated into the Baduanjin exercise intervention group (BEG) or usual physical activity control group (CG) for 24 weeks. Cerebral hemodynamic parameters of bilateral middle/anterior cerebral artery and basilar artery, cognitive ability and physical frailty were assessed using Transcranial Doppler (TCD), Montreal Cognitive Assessment (MoCA) and Edmonton Frailty Scale (EFS) at baseline and 24 weeks post-intervention. Results: After 24 weeks intervention, the changes in peak systolic velocity (PSV), mean blood flow velocity (MBFV), and end diastolic velocity (EDV) in the right middle cerebral artery and basilar artery were better in the BEG than in the CG; the increase in MoCA scores and the decrease in EFS scores were significantly higher in the BEG than in the CG. Moreover, the interaction of exercise and time on those variables showed obvious significance. Conclusions: The 24 weeks Baduanjin exercise training had a positive beneficial effect on cerebral blood flow in community-dwelling older adults with cognitive frailty. This may be a potential mechanism by which Baduanjin exercise improves the cognitive frailty in older adults. Trial registration: Chinese Clinical Trial Registry, ChiCTR1800020341. Date of registration: December 25, 2018, http://www.chictr.org.cn/showproj.aspx?proj=29846

Transcriptomic and physiological analysis reveals crucial biological pathways associated with low-temperature stress in Tunisian soft-seed pomegranate (Punica granatum L.)

ABSTRACTLow temperature severely affects the growth of pomegranate in the early spring during the production process under protected cultivation. To understand the molecular responses to cold stress in Tunisian soft-seed pomegranate, this study investigated the transcriptome profiles and physiological changes of pomegranate leaves exposed to cold stress (6 °C) and freezing stress (0°C). Some potential cold response/resistance genes involved in plant hormone signal transduction, photosynthetic systems and carbon fixation in the C4 pathway, and sucrose and galactose metabolism were identified. In addition, an analysis of physiological indicators indicated that both stresses caused cell membrane damage; the accumulation of soluble sugar, soluble protein and proline; and the occurrence of photoinhibition owing to the damage in photosynthetic apparatus and the decrease in light energy conversion efficiency and electron transfer rate as shown by the decrease in net photosynthetic rate [Pn], potential maximum photochemical efficiency of PSII [Fv/Fm], actual photochemical efficiency of PSII [YII] and photochemical quenching coefficient [qP], and the effect was much moresevere in pomegranate under freezing stress. This study results offer useful information to understand the molecular mechanism of pomegranate response to cold stress and also lay a foundation for the selection of major candidate genes to conduct molecular breeding for cold tolerance in pomegranate

Effect of Marine Microalga <i>Chlorella pyrenoidosa</i> Ethanol Extract on Lipid Metabolism and Gut Microbiota Composition in High-Fat Diet-Fed Rats

Effects of marine microalga Chlorella pyrenoidosa 55% ethanol extract (CPE55) on lipid metabolism, gut microbiota and regulation mechanism in high fat diet-fed induced hyperlipidaemia rats were investigated. Structure characterizations of major compounds in CPE55 were determined by ultra-performance liquid chromatography-quadrupole/time of flight mass spectrometry (UPLC-Q-TOF-MS/MS). The compositions of gut microbiota in rats were analyzed by high-throughput next-generation 16S rRNA gene sequencing. Oral administration with CPE55 markedly alleviated dyslipidemia through improving adverse blood lipid profile and inhibiting hepatic lipid accumulation and steatosis. CPE55 has downregulated the gene expression levels of acetyl CoA carboxylase, sterol regulatory element-binding transcription factor-1c, and 3-hydroxy-3-methyl glutaryl coenzyme A reductase and upregulated adenosine 5&#8242;-monophosphate-activated protein kinase-&#945;. It has also improved the abundance of bacteria Alistipes, Prevotella, Alloprevotella, and Ruminococcus1 and decreased the abundances of Turicibacter and Lachnospira. Turicibacter and Lachnospira were both positive correlations of metabolic phenotypes. The findings above illustrated that CPE55 might be developed as food ingredients to ameliorate lipid metabolic disorders and hyperlipidaemia