Familial hypophosphatemic rickets, which is usually acknowledged as X-linked hypophosphatemic rickets (XLH), is a rare hereditary disease. XLH caused by mutations in the PHEX gene often manifests as growth retardation, skeletal deformities, osteodynia and dental dysplasia. NPR2 mutations are reported to cause disproportionate short stature. Our study was designed to identify the gene mutations of three patients in one family.
A 40-year-old Chinese male visited the hospital for continuous osteodynia and presented with bilateral leg bowing, absent teeth and a progressive limp. The age of onset was approximately 2 years old. His 63-year-old mother and 42-year-old brother both shared identical symptoms with him. The laboratory tests were consistent with XLH, which showed decreased levels of blood phosphorus and 1,25-dihydroxyvitamin D3 as well as increased urinary phosphorus excretion. Mutation analysis revealed that the proband as well as his mother and his brother all had a PHEX mutation in exon 14 (c.1543C > T), and the proband also had a NPR2 mutation in exon 21 (c.3058C > T).
We report the familial hypophosphatemic rickets of three patients in a Chinese family caused by a PHEX gene mutation in exon 14 (c.1543C > T), which had never been reported in Chinese patients. We first report an XLH case together with a NPR2 mutation that had never been reported before.
This study investigates the evolution of diabetics’ concerns based on the analysis of terms in the Diabetes category logs on the Yahoo! Answers website. Two sets of question-and-answer (Q&A) log data were collected: one from December 2, 2005 to December 1, 2006; the other from April 1, 2013 to March 31, 2014. Network analysis and a t-test were performed to analyze the differences in diabetics’ concerns between these two data sets. Community detection and topic evolution were used to reveal detailed changes in diabetics’ concerns in the examined period. Increases in average node degree and graph density imply that the vocabulary size that diabetics use to post questions decreases while the scope of questions has become more focused. The networks of key terms in the Q&A log data of 2005–2006 and 2013–2014 are significantly different according to the t-test analysis of the degree centrality and betweenness centrality. Specifically, there is a shift in diabetics’ focus in that they have become more concerned about daily life and other nonmedical issues, including diet, food, and nutrients. The recent changes and the evolution paths of diabetics’ concerns were visualized using an alluvial diagram. The food- and diet-related terms have become prominent, as deduced from the visualization results.
The objective of the study was to evaluate whether or not sexual development differs between boys with prepubertal obesity and boys of normal weight. We enrolled healthy obese and normoweight schoolboys from Shenyang City, Liaoning, China. Eligible boys were at Tanner stage 1 and 8 years of age at baseline. We measured testosterone and estradiol concentrations in the saliva and assessed auxology annually for 4 years. In all 56 obese and 56 normoweight boys, the height, weight, body composition, and sex organ volume increased with age. The percentages of body fat, fat mass, and lean mass were all higher in obese than in normoweight boys. The mean testicular volume was smaller in obese boys than in normoweight boys. The sex hormone concentrations increased with age, except for testosterone in obese boys in year 3 of follow-up. In year 4, estradiol concentrations were significantly higher in obese boys than in normoweight boys. Excessive adiposity in prepubertal boys might affect testicular volume, possibly because of high estradiol and low testosterone concentrations.
A synergistic process with steam explosion pretreatment (SEP) followed by sodium carbonate-oxygen cooking (SCOC) upon bamboo was evaluated for its effect on separating hemicellulose and lignin from bamboo while preserving cellulose, providing cellulose substrate susceptible to chemicals in producing platform chemicals such as levulinic acid. The results showed that through the SEP with 2.5 MPa for 10 min, the hemicellulose content reduced by 60.85 %, the specific surface area of bamboo fiber increased to 1.9494 m2g-1 from 0.8061 m2g-1 of raw material. The synergistic SEP-SCOC significantly removed 73.33 % lignin, and yielded 73.9 % cellulose under the optimal condition of SEP with 2.5 MPa for 10 min and followed by SCOC with 30 % total titratable alkali (TTA) at 180 °C for 2 h and 2 MPa oxygen pressure. The results also proved the total lignin removal was improved by 8.07–18.95 % for the steam exploded bamboo fibers than the untreated one, indicating SEP increased the accessibility of cooking reagents to fibre during subsequent SCOC process. Furthermore, the low value of biological oxygen demand (BOD) and chemical oxygen demand (COD) in the final spent liquor indicated the lower pollution level of the process.