Clinical and genetic analyses of Joubert syndrome in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical and genetic features of Joubert syndrome (JS) in children.@*METHODS@#A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.@*RESULTS@#Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.@*CONCLUSIONS@#For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Isolation and identification of chemical constituents from Disporum cantoniense / 中草药

Objective: To study the chemical constituents from Disporum cantoniense. Methods: Various column chromatographic techniques were used to separate and purify the chemical constituents and their structures were elucidated by spectral ananlysis. Results: Sixteen compounds were isolated and identified as 3-maleimide-5-oxime (1), 4-methylene-5-oxopyrrolidine-2- carboxylic acid (2), thymine (3), adenosine (4), 5'-deoxy-5'-methylamino-adenosine (5), ethyl-α-L-rhamnose (6), bergenin (7), 4-hydroxy- 2-methoxyphenyl-6-deoxy-α-L-talopyranoside (8), (-)-epicatechin (9), (6R,9R)-roseoside (10), 3-(4-hydroxy-3,5-dimethoxyphenyl) propane-1,2-diol (11), 3-hydroxy-5-(p-hydroxyphenyl) pentanoic acid (12), 1-ribityl-2,3-diketo-1,2,3,4-tetrahydro-6,7-dimethyl-quinoxaline (13), (6S,9R)-vomifoliol (14), 1-(3,4-dihydroxyphenyl)-2-hydroxye-thanone (15), and 1,2-dihydroxy-1-(4-hydroxy-3,5-dimethoxyphenyl)- ethane (16). Conclusion: Compounds 1, 2, 5-9, and 12-16 are isolated from genus Disporum Salisb. for the first time, and compounds 1, 2, 5-10, and 12-16 are isolated from this plant for the first time.

Comparative proteomic analysis of proteins expression changes in the mammary tissue of cows infected with Escherichia coli mastitis

Cows infected with Escherichia (E.) coli usually experience severe clinical symptoms, including damage to mammary tissues, reduced milk yield, and altered milk composition. In order to investigate the host response to E. coli infection and discover novel markers for mastitis treatment, mammary tissue samples were collected from healthy cows and bovines with naturally occurring severe E. coli mastitis. Changes of mammary tissue proteins were examined using two-dimensional gel electrophoresis and label-free proteomic approaches. A total of 95 differentially expressed proteins were identified. Of these, 56 proteins were categorized according to molecular function, cellular component, and biological processes. The most frequent biological processes influenced by the proteins were response to stress, transport, and establishment of localization. Furthermore, a network analysis of the proteins with altered expression in mammary tissues demonstrated that these factors are predominantly involved with binding and structural molecule activities. Vimentin and alpha-enolase were central "functional hubs" in the network. Based on results from the present study, disease-induced alterations of protein expression in mammary glands and potential markers for the effective treatment of E. coli mastitis were identified. These data have also helped elucidate defense mechanisms that protect the mammary glands and promote the pathogenesis of E. coli mastitis.

Effects of repeated fasting/refeeding on lipid metabolism and uncoupling proteins expression in rats / 中国应用生理学杂志

<p><b>OBJECTIVE</b>To explore the expression changes of mRNA and protein of uncoupling protein 2 (UCP2) in adipose tissues and uncoupling protein 3 (UCP3) in muscle tissues of rats which were treated with repeated fasting/refeeding and followed by fed with high-fat diet, and their possible mechanism on lipid metabolism.</p><p><b>METHODS</b>The model of repeating fasting/refeeding rats (repeated cycles of 1-day fasting and 1-day refeeding for 6 weeks fed with common-fat diet, RFR) was designed. At the end of the 6th week, the RFR rats were switched to high-fat diet every day (RFR-CF/HF). Moreover, the control rats were randomly divided into two groups and then fed with high-fat diet (HF) and common-fat diet (CF) respectively for 6 weeks. All rats were killed at the end of the 6th and the 12th week, serum and plasma samples were taken from abdominal aorta, and then the concentration of serum lipids, glucose, free fatty acid (FFA), and plasma insulin were measured. The histomorphological changes of liver tissues were observed by HE staining. The expression level of mRNA and protein of UCP2 in adipose tissues and UCP3 in muscle tissues was respectively measured by RT-PCR and Western blot.</p><p><b>RESULTS</b>(1) The concentration of serum glucose in RFR group was significantly lower than that in control group (P < 0.05), while the concentration of serum FFA, expression level of UCP2 mRNA, UCP3 mRNA and protein were significantly higher than those in control group (P < 0.05). (2) The concentration of serum total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and plasma insulin in RFR-CF/HF group was significantly lower than that in HF group, but significantly higher than that in CF group (P < 0.05). The concentration of serum FFA was significantly lower than that of HF and CF groups (P < 0.01). The expression level in UCP2, UCP3 mRNA and protein was significantly higher than that of HF group, but significantly lower than that of CF group (P < 0.05).</p><p><b>CONCLUSION</b>The feeding pattern of repeated fasting/refeeding can decrease the obese degree induced by high-fat diet, increase the mRNA and protein expression of UCP2 in adipose tissues and UCP3 in muscle tissues, up-regulate the proton leak caused by obesity, and improve the rate of basic energy metabolism in rats.</p>

Clinical observation on effect of acupuncture in treating diabetic peripheral neuropathy / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the effect of acupuncture in treating diabetic peripheral neuropathy (DPN).</p><p><b>METHODS</b>Sixty patients with DPN were randomly assigned to the acupuncture treated group and the control group, 30 in each group. Besides basic treatment, patients were treated additionally with acupuncture and orally administration of Methycbal (Mecolbalamin) for 8 weeks respectively. Changes of symptoms, blood glucose, HbA1c, whole blood and plasma viscosity, the nerve conduction velocity (NCV) of sensory and motor nerves before and after treatment were observed.</p><p><b>RESULTS</b>Acupuncture can ameliorate symptoms and signs of the nervous system, decrease whole blood and plasma viscosity, and improve the NCV of sensory and motor nerves in patients with DPN.</p><p><b>CONCLUSION</b>The effect of acupuncture in treating DPN is definite.</p>