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OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
Subject(s)
Child , Humans , Male , Chromosome Banding , Cytogenetic Analysis , Genetic Testing , In Situ Hybridization, Fluorescence , KaryotypingABSTRACT
ObjectiveTo investigate the therapeutic effect of entecavir or adefovir dipivoxil as the antiviral therapy for hepatitis B cirrhosis patients with hepatogenous diabetes. MethodsA total of 80 hepatitis B cirrhosis patients with hepatogenous diabetes who visited Qingdao Hospital of Infectious Diseases were enrolled, and according to the antiviral drug they chose, they were divided into group A and group B, with 40 patients in each group. The patients in group A were treated with oral administration of entecavir 0.5 mg qd, and those in group B were treated with oral administration of adefovir dipivoxil 10 mg qd. The antiviral therapy lasted for 48 weeks. The patients in both groups were given diabetic diets and insulin to control blood glucose, as well as liver-protecting and transaminase-lowering treatments. The changes in biochemical parameters, viral response, diabetes control, and the improvement in liver stiffness after treatment were observed in both groups. The t-test was used for comparison of continuous data between groups, and the chi-square test was used for comparison of categorical data between groups. ResultsThe viral response showed a significant difference between group A (85%, 34/40) and group B (65%, 26/40) (χ2=4.27, P＜0.05). Compared with group B, group A showed significant improvements in biochemical parameters (P＜0.05). After 48 weeks of treatment, group A had significantly lower levels of blood glucose and glycosylated hemoglobin than group B (blood glucose: 7.53±1.13 mmol/L vs 8.34±1.12 mmol/L, t=3.220, P＜0.05; glycosylated hemoglobin: 7.23%±0.64% vs 7.79%±084%, t=3.354; P＜0.05). After the treatment, liver stiffness showed a significant difference between group A and group B (16.86±5.67 kPa vs 19.47±5.32 kPa, t=2.123, P＜0.05). ConclusionCompared with adefovir dipivoxil, entecavir can improve glycogen metabolism and blood glucose regulation through improving liver function and promoting hepatocyte repair, and finally achieve a better blood glucose control.
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ObjectiveTo investigate the efficacy of telbivudine combined with adefovir dipivoxil and PEG-IFN-α-2a combined with entecavir as the antiviral therapy for HBeAg-positive patients with chronic hepatitis B (CHB) and a high viral load. MethodsA total of 80 previously untreated HBeAg-positive CHB patients with a high viral load who were treated in The Sixth People′s Hospital of Qingdao from November 2012 to November 2015 were enrolled and randomly divided into two groups. The patients in group A were treated with telbivudine combined with adefovir dipivoxil, and those in group B were treated with PEG-IFN-α-2a combined with entecavir. Biochemical and virologic response rates and seroconversion rate were observed at weeks 12, 24, and 48 of administration. The drug resistance rate and incidence rates of adverse events were observed in both groups. The Chi-square test was applied for comparision of categorical data between the two groups, and the t-test was applied for comparision of continuous data between the two groups. ResultsBiochemical and virologic response rates at weeks 12, 24, and 48 of administration showed no significant differences between the two groups. The seroconversion rates at weeks 12 and 24 of administration showed no significant differences between the two groups, while at week 48 of administration, group B had significantly higher HBeAg clearance rate and seroconversion rate than group A (450% vs 675%， 225% vs 450%，χ2=4.114 3 and 4.528 3, both P＜0.05). Group B had significantly higher incidence rates of adverse events than group A. ConclusionTelbivudine combined with adefovir dipivoxil and PEG-IFN-α-2a combined with entecavir can effectively inhibit the replication of high-load HBV DNA, delay disease progression, and realize HBeAg seroconversion. However, the two regimens have their own advantages and disadvantages and should be selected according to clinical situation.
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To investigate the relationship between plasma levels of TXB2, 6-KPGF1?, cAMP and cGMP and the hemodynamics of hypoxemia, 30 patients with chronic cor pulmonale (CCP) were studied. The influence of hypoxemia and isosorbide dinitrate therapy was also observed. The results showed: 1) Plasma TXB2 level was significantly higher and plasma 6- KPGF1? level was significantly lower in CCP patients than in healthy controls. There was a negative correlation between 6 KPGFl? and-Ppa levels and a positive correlation between TXB2, TXB2/ 6 KPGF1? ratio and Ppa levels. 2) High levels of plasma TXB2 and TXB2 / 6-KPGF1? were found in hypoxemia cases when the PaO2 level was less than 6.67 kPa (50 mmHg). 3) Reduced Ppa after isosorbide dinitrate infusion elevated the plasma levels of 6-KPGF1?, cAMP, and the cAMP/cGMP ratio, and reduced those of TXB2 and the TXB2/6-K.PGF1? ratio.