Objective To observe the application of amniotic membrane in conjunctival sac plasty.Methods 24 cases with different eye diseases were performed with conjunctival sac plasty,in which 11 eyes were performed with amniotic membrane transplantation,5 eyes with symblepharon which adhered with cornea or emerged neovascularization were performed with amniotic membrane transplantation and lamellar keratoplasty,other 8 eyes were performed with amniotic membrane transplantation and conjunctival fornixe.They were followed up for 6~12 months.Results There was no inflammation observed after operation.The transplanted amniotic membrane turned transparent and the conjunctiva at sewing location crawled to amnion 10 d after operation.One month later,the neonatal conjunctiva covered transplanting region completely.Among the 24 eyes,9 eyes were healed,13 eyes were improved,and 2 were ineffective.Conclusion Amniotic membrane is a kind of effective material during conjunctival sac plasty for narrow conjunctival sac.

Objective To investigate the protect effects of Edaravone(Ed)and GM1 on the rat model of parkinson disease(PD).Methods To establish the unilateral PD rat model,6-OHDA was injected at two points of right substantial nigra pars compacta(SNC),ventral tegmental area(VTA),then the old rats were randomly divided into normal,NS,PD,PD + GMI,PD + Ed,FD + GM1 + Ed six groups.14d later,a rotational test induced by apomorphine was performed to determine the successful ratio.Cell apoptosis in SNC of rats were examined by TUNEL methods.Results Normal and NS groups unappeared rotate action by APO,and have no cell apoptosis in SNC.The other groups all appear rotate action(＞7 r/min)by APO,rotate action were in following gradation:PD +GM1 + Ed group(8.0±0.3)＜PD + Ed group(12.0±0.6)＜PD + GM1 group(17.0±1.0)＜PD group(23.0±1.3)(P＜0.01);and cell apoptosis in SNC were in following gradation:PD + GM1 + Ed group(27.63±2.38)＜PD + Ed group(38.42±3.54)＜PD + GM1 group(49.36±3.12)＜PD group(62.61±4.03)(P＜0.01).Conclusion 6-OHDA could induce change of action of rat and cell apoptosis in SNC.GM1,Ed reduce significantly the effect induced by 6-OHDA.GM1 combining with Ed have the best effects.

Objective To analyse MMACHC mutations for 45 pedigrees with combined methylmalonic aciduria and homocyctinuria by Sanger sequencing, and to discuss the utility of prenatal genetic diagnosis for these pedigrees.Method Peripheral blood was collected from 45 probands and their parents from 2012-2015 in Genetic Counselling Clinic of the First Affiliated Hospital of Zhengzhou University, and the DNA were extracted from the blood.Then the coding sequence of MMACHC gene was amplified by PCR, and the PCR products were further sequenced to detect mutations for each pedigree.For 12 families, chorionic villus sampling was performed on the pregnant women to make prenatal genetic diagnosis.Result There were 14 distinct mutations detected in the 45 pedigrees, and the most frequent mutations are c.609G>A(W203X),c.658-660delAAG(K220del)and c.80A>G (Q27A).Two of those mutations have not been reported before:one is a splicing site mutation c.81+1G>A;while the other is a missense mutation c.665A>G,p.Y222C.Most mutations were found in exon 4.Among the 12 pedigrees who received prenatal diagnosis, 2 fetuses were normal, 7 fetuses were carriers of heterozygous mutation, and the other 3 fetuses were patients with compound heterozygous mutation or homozygous mutation.The couples whose fetuses were normal or carriers continued the gestation, while the couples whose fetuses were patients decided to terminate the pregnancy.After delivery, the outcome of the fetuses was the same as the prenatal diagnose results.Conclusion Two novel mutations of MMACHC were identified and prenatal genetic diagnosis helps to avoid the delivery of combined methylmalonic aciduria and homocyctinuria patients.

OBJECTIVETo compare the clinical efficacy of Chinese traditional herbs (CTH) alone or combined with Western medicine (conventional treatment plus different doses of prednisone) in treating anaphylactic purpura nephritis (APN).

METHODSClinical data of 232 patients with APN were collected and analyzed. They were assigned to four groups. Patients in Group A1 were treated with CTH; in Group A2 were treated initially with Western medicine but turned midway to CTH; in Group B1 and B2 treated with CTH combined with conventional Western medicine and plus low or high dose of prednisone respectively. The comprehensive clinical efficacy on symptoms, physical signs, routine urine examination, blood creatinine and urea nitrogen, as well as the treatment duration and long-term effect in the four groups were observed.

RESULTSThere was no significant difference in the comprehensive clinical effects among the four groups (P > 0.05). However, the treatment duration was significantly shorter in Group A1 and B1 than in the other two groups (P < 0.01). Follow-up study on patients in similar duration showed similar reoccurrence rate among groups (P > 0.05).

CONCLUSIONChinese herbs has definite effects on APN with the treatment course shorter than that of other treatments, the optimal protocol for treatment of APN is applying Chinese herbs alone or combined with conventional Western medicine plus low dose prednisone. It is necessary to conduct a follow-up study even though the patients have been cured.

Adolescent ; Adult ; Anti-Inflammatory Agents ; therapeutic use ; Child ; Child, Preschool ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Nephritis ; drug therapy ; etiology ; Phytotherapy ; Prednisone ; therapeutic use ; Purpura, Schoenlein-Henoch ; complications ; drug therapy ; Treatment Outcome ; Young Adult

OBJECTIVE: To determine whether carbamazepine is effective in treating the subjective tinnitus. METHOD: Randomized, prospective,double-blind,controlled trial was used in our study. The study group consisted of 100 adult patients who consulted our outpatient clinic complaining of subjective tinnitus, excluded objective tinnitus and the patients who had tinnitus caused by obvious diseases, such as outer and middle ear diseases, 50 patients were given carbamazepine and Flunarizine Hydrochloride, 50 patients were given Vitamin B6 and Flunarizine Hydrochloride. After a week the effect of the different group of medicines was observed. Tinnitus questionnaire was performed before the treatment, and pure tone audiogram, tinnitus pitch and loudness matching were performed at the end of the treatment. RESULT: Completion of treatment, tinnitus loudness matching assessment showed that the efficacy of the carbamazepine group was similar to that of the control group. The efficacy of treatment was respectively 26% by intend to treat (ITT) and 28.3% by per protocol (PP) in the carbamazepine group and 26% by ITT and 27.7% by PP in the control group. The efficacy of treatment has no statistically significance for tinnitus loudness of the experimental group and the control group. The subjective tinnitus improvement rate showed no difference between two groups. Pure tone thresholds fluctuated within 10 dB in the beginning and at the end of the treatment. There were serious side effects in the carbamazepine group. The side effects rates were respectively 55.3% and 16.7% in the carbamazepine group and the control group, respectively. The difference had statistical significance. CONCLUSION Our results showed that the efficacy of carbamazepine combined with Flunarizine Hydrochloride is similar to that of the control group. There was no improvement in listening. But the side effects of it were more serious than that of the control group. It should not be recommended for the treatment of tinnitus.
Adolescent ; Adult ; Aged ; Carbamazepine ; therapeutic use ; Double-Blind Method ; Drug Therapy, Combination ; Flunarizine ; therapeutic use ; Hearing Tests ; Humans ; Middle Aged ; Prospective Studies ; Tinnitus ; drug therapy ; Young Adult

ObjectiveTo investigate the Jiuqiang Naoliqing's (JNQ) histological influence on hearts, brains and kidneys of spontaneous hypertension rats (SHR). MethodsThe rats were randomly divided into four groups: Wistar control group, SHR group, higher dose JNQ treated SHR group(0.530 g/kg) and lower dose JNQ treated SHR group(0.265 g/kg). The treatment lasted five weeks, and the rats' blood pressure were monitored through tail pulse. After the perfusion procedure, rats' hearts, brains and kidneys were rapidly removed in low temperature condition and stored in 10% formalin solution of 4 ℃.Then routine sections were obtained and the slides were stained with HE.ResultsBefore treatment, the blood pressure of SHR groups were distinctly higher than that of the control group(P<0.01), nevertheless, no obvious blood pressure downgrade were observed after three week and five week treatment. Histopathologic study showed: in SHR group,heart with hypertrophic cardiac muscle, proliferative arterial wall and strictured lumina; Cortex with angiostenosis, proliferative vascular wall and large perivascular space; Glomerulus atrophy with hyaline degeneration. These pathologic changes got respective alleviation after five week treatment of JNQ, particularly in higher dose group.ConclusionSHR who got five week treatment of JNQ didn't gain obvious blood pressure downgrade. But the treatment did good to their vital organs and can obviously alleviate hearts, brains and kidneys' pathologic changes.

Stomach pain in Chinese medicine (CM) is a very common disorder in clinical practice and it has been listed as one of the pilot three conditions in Hong Kong to develop evidence-based CM clinical practice guidelines (CM CPGs). The aim of this stomach Pain CPG is to summarize the treatment methods of stomach pain with CM and evaluate reasonably, then to guide local licensed CM practitioners and provide beneficial reference for social medical decision makers and patients. In this manuscript, we defined stomach pain in CM and the category of chronic gastritis in Western medicine. The clinical manifestation, CM pattern classification, and CM intervention including herbal medicine treatment based on pattern differentiation, symptomatic treatment, acupuncture treatment, regulation and nursing were illustrated.

OBJECTIVEInversions of intron 1 (Inv1) or intron 22 (Inv22) of the coagulation factor VIII gene (F8) may be found in 40%-50% of patients with severe hemophilia A. Such inversions cannot be detected by conventional sequencing. Due to homologous recombination, family-based linkage analysis may yield false positive or false negative results. In this study, Inverse-shifting PCR (IS-PCR) was used to detect potential inversions in two families affected with hemophilia A.

METHODSPeripheral venous blood, fetal amniotic fluid and fetal chorionic cells were harvested for genome DNA extraction. IS-PCR was used to detect Inv1 or Inv22 detection or its subtypes.

RESULTSIS-PCR has accurately detected Inv22 and Inv1 in both families and verified the subtypes of Inv22.

CONCLUSIONCarriers of Inv22 or Inv1 may be precisely detected with IS-PCR. The results have provided valuable information for genetic counseling and prenatal diagnosis for the affected families.

Child ; Chromosome Inversion ; Factor VIII ; genetics ; Genetic Counseling ; Hemophilia A ; diagnosis ; genetics ; Humans ; Introns ; Male ; Prenatal Diagnosis

OBJECTIVETo analyze a patient with unexplained mental retardation by using three primer PCR (TP-PCR) and single nucleotide polymorphisms array (SNP-array), and to correlate the genotype with phenotype.

METHODSPeripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5'UTR of the FMR1 gene. SNP array was used for high resolution analysis of the patient's genome.

RESULTSTP-PCR has shown no abnormal amplification of CGG in the 5'UTR of FMR1 gene. Hence, Fragile X syndrome was excluded as the cause for mental retardation. SNP array analysis has identified a 0.93 Mb duplication at 7q36.1-q36.2 and a 2.2 Mb deletion at 12p13.1-p13.2 in the patient.

CONCLUSIONThe microduplication and microdeletion discovered in the patient probably underlies the intelligence disability. The high-resolution SNP array can provide accurate information for the identification of pathogenesis, and is the preferred method for the diagnosis of unexplained mental retardation.

Child ; Cytogenetic Analysis ; Fragile X Mental Retardation Protein ; genetics ; Humans ; Intellectual Disability ; genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide

OBJECTIVETo detect potential mutation of F8 gene in a family affected with hemophilia type A.

METHODSInverse-shifting PCR (IS-PCR), next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and short tandem repeat (STR) assays were used.

RESULTSIS-PCR showed that no inversion of F8 gene has occurred in the family. NGS detected no point mutation or small InDel in the proband, but suggested that the exon 2 of the F8 gene may be deleted. MLPA also showed that exon 2 of the F8 gene was absent in the proband, while the carriers were heterozygous for the deletion, though STR analysis yielded a paradoxical result.

CONCLUSIONNGS analysis has identified a large deletion of exon 2 of the F8 gene in a family affected with hemophilia A. Discretion is required when STR analysis was used for carrier screening and antenatal diagnosis. Combination of multiple methods can improve the accuracy for the detection of F8 gene mutations.

Child ; Exons ; genetics ; Factor VIII ; genetics ; Genetic Testing ; methods ; Hemophilia A ; Humans ; Male ; Pedigree ; Sequence Deletion ; genetics