1.Observation on double - passage annular lacrimal intubation for canalicular laceration
Gui-Ping, LI ; Yan, SHAO ; Xiao, LI ; Yu-Huan, YUE ; Gai-Xiu, XIA
International Eye Science 2014;(9):1726-1727
To evaluate the value of silicone intubation and ring-fixed method in canalicular laceration.
●METHODS: A retrospective study of 36 cases with laceration of lacrimal canaliculus. For all the patients, microscope was used to find the broken ends of the lacrimal canaliculus, and then straight insertion was performed to the distant and near broken ends through the upper and lower lacrimal points, then passed the dacryocyst to insert nasolacrimal canal and ended up in inferior nasal meatus. Thus, clinical data about forming annular support to treat laceration of lacrimal canaliculus was presented here.
● RESULTS: All 36 patients with traumatic canalicular laceration were anastomosed successfully and all patients healed without infection. The surgery went well, intubation was smoothly, all patients were followed - up for another 6mo after the stent was removed. The accidental fall off of the stent was not observed during the follow - up. During the follow - up 10 - 18mo after extubation, when the stent was removed, 32 cases (88. 9%) recovered to normal lacrimal drainage function;4 cases ( 11. 1%) remained epiphora with obstructed lacrimal passage. All cases were no lower eyelid ectropion.
●CONCLUSlON: For the patients with inferior canalicular laceration, the silicone intubation and ring-fixed method is effective, low irritation and less complication.
2.Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis.
Yong-an ZHOU ; Wei-hua GAO ; Jian-ping YANG ; Quan-bin ZHANG ; Gai-xiu ZHANG ; Jian-ping LIU ; Yun-xia MA ; Xiao-gang ZHANG ; Liang YU
Chinese Journal of Medical Genetics 2012;29(6):683-685
OBJECTIVETo establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.
METHODSHigh-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.
RESULTSThe results detected by HRM are in good agreement with the results obtained by direct sequencing.
CONCLUSIONHRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.
Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; methods ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Nucleic Acid Amplification Techniques ; methods ; Nucleic Acid Denaturation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; diagnosis ; genetics ; Transition Temperature
3.Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province.
Wei-hua GAO ; Quan-bin ZHANG ; Jian-ping LIU ; Jian-ping YANG ; Gai-xiu ZHANG ; Yun-xia MA ; Xiao-gang ZHANG ; Liang YU ; Yong-an ZHOU
Chinese Journal of Medical Genetics 2011;28(4):393-396
OBJECTIVETo study the mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase gene (PAH) in Shanxi population.
METHODSThe mutations in exons 3, 6, 7, 11 and 12 and flanking sequences of PAH gene were detected by PCR-DNA sequencing, in 59 patients with phynelketonuria(PKU) and 100 healthy children from Shanxi province.
RESULTSBy sequence analysis, three single nucleotide polymorphism (SNP) Q232Q (CAA>CAG), V245V (GTG>GTA) and L385L (CTG>CTC) were detected in both the patients and healthy children, with the frequencies of nt 696, 735 and 1155 of the PAH cDNA up to 96.2%, 76.1% and 7.6% in patients respectively, and 97.0%, 77.3% and 8.3% respectively in the healthy controls. In addition, 72 different mutations accounting for 61.0% of mutant alleles were identified in the patients only. In exon 3, R111X, H64>TfsX9 and S70 del were found accounting for 5.1%, 0.8% and 0.8%; EX6-96A>G in exon 6 was found accounting for 10.2%. In exon 7, R243Q was the highest incidence accounting for 12.7%, followed by Ivs7+2 T>A(5.1%) and T278I(2.5%); the lowest incidences were G247V, R252Q, L255S, R261Q and E280K accounting for 0.8 %, respectively. In exon 11, Y356X (5.9%) and V399V (5.1%) were found; in exon 12, R413P and A434D were found accounting for 5.9% and 2.5%. In total, 9 missense mutations, 3 splice site mutations, 2 nonsense mutations and 2 deletions were included in 16 kinds of different mutations.
CONCLUSIONThe mutation characteristics and distribution in exons 3, 6, 7, 11 and 12 of the PAH gene have been identified, and it suggested that the EX6-96A>G and R243Q were the hot spots of PAH gene mutations in Shanxi PKU population.
Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; China ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Infant ; Male ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics ; Polymorphism, Single Nucleotide ; genetics
4.Effect of Huanshuai Recipe Oral Liquid (characters: see text) on renal dysfunction progression in patients with atherosclerotic renal artery stenosis.
Xiu-juan WANG ; Xiang-rong RAO ; Shen LI ; Li WANG ; Chang LIU ; Gai-hua ZHANG ; Dong-yan HAN ; Yu ZHAO ; Nan-nan ZHANG ; Xue-xia LI ; Shuai CHEN
Chinese journal of integrative medicine 2015;21(11):811-816
OBJECTIVETo investigate the effect of Huanshuai Recipe Oral Liquid ([characters: see text], HSR) on retarding the progression of renal dysfunction in patients with atherosclerotic renal artery stenosis (ARAS).
METHODSA total of 52 ARAS patients with the Chinese medicine (CM) syndrome of qi deficiency and blood stasis, phlegm and dampness retention were recruited and randomly assigned into the treatment group (36 cases) and the control group (16 cases). Both groups received a basic treatment (high-quality low-protein diet, blood pressure control, lipid-lowering, correcting the acidosis, etc.). In addition, the treatment group received 20 mL HSR and the control group received placebo, 3 times a day for 6 months. Renal function (serum creatinine, blood urea nitrogen and uric acid) and blood lipids (cholesterol, triglycerides and low density lipoprotein) were examined monthly. The estimated glomerular filtration rate (eGFR) and CM syndrome score were compared between groups.
RESULTSAfter treatment, compared with the control group, the serum creatinine level, uric acid level and CM syndrome score of the treatment group were significantly decreased (P<0.05 or P<0.01), and the eGFR in the treatment group were significantly increased (P<0.05).
CONCLUSIONHSR can effectively improve the renal function and clinical symptoms of ARAS patients.
Administration, Oral ; Aged ; Atherosclerosis ; drug therapy ; Disease Progression ; Drugs, Chinese Herbal ; pharmacology ; Female ; Glomerular Filtration Rate ; Humans ; Kidney Function Tests ; Lipids ; blood ; Male ; Renal Artery Obstruction ; drug therapy ; Treatment Outcome
5.Prevalence of Entamoeba histolytica infection and its risk factors in Tengchong City, Yunnan Provine: a hospital-based study
Qi WANG ; Gai-Ge YANG ; Chun-Li YANG ; Xiu-Xia ZHAN ; Ying-Fang YU ; Shun-Xian ZHANG ; Li-Guang TIAN
Chinese Journal of Schistosomiasis Control 2019;31(2):139-142
Objective To understand the infection status and risk factors of Entamoeba histolytica in inpatients in Tengchong City, Yunnan Province. Methods A cross-sectional study was conducted in the inpatients in Tengchong People’s Hospital, Yunnan Province. After obtaining the informed consent from the subjects, the stool samples were collected from 2016-07-01 to 2017-03-31, and nested polymerase chain reaction (PCR) was used to detect E. histolytica in the stool samples. Meanwhile, a structured questionnaire was used to record the demographic information and clinical symptoms for the patients. Results Totally 507 cases were recruited, and the detection rate of E. histolytica was 1.97% (10/507, 95% CI: 1.07%-3.59%) in all subjects. There were no significant differences between the inpatients with and without E. histolytica infection in the height (Z = -0.40, P = 0.69), weight (Z = -0.34, P = 0.73), body mass index (Z = -0.40, P = 0.69) and age (Z = -1.48, P = 0.14). Chronic diarrhea (OR = 21.43, 95% CI: 5.04-91.23) and daily drinking water (OR = 11.28, 95% CI: 2.79-45.56) were relevant to E. histolytica infection. No significant association was observed between E. histolytica infection and the clinical symptoms, such as abdominal distension (OR = 0.70, 95% CI: 0.09-5.56), inappetence (OR = 0.50, 95% CI: 0.06-4.02), itchy skin (OR = 0.79, 95% CI: 0.10-6.38), perianal pruritus (OR = 1.74, 95% CI: 0.21-14.07), and constipation (OR = 0.91, 95% CI: 0.13-7.33). Conclusion E. histolytica infection is high in inpatients in Tengchong City, Yunnan Province, and chronic diarrhea and drinking unboiled water were highly correlated with E. histolytica infection.