Humans typically have 22 pairs of autosomal chromosomes in cells,and a pair of sex chromosomes.Some individuals have an extra,autosomal chromosome called a small supernumerary marker chromosome (sSMC).sSMC is a structurally abnormal chromosome fragment.The fragments are too small and no-specific banding pattern to be identified by conventional banding cytogenetic analysis.Array-based comparative genomic hybridization (aCGH),fluorescence in situ hybridization (FISH) or other molecular biological methods are necessary for the diagnosis.This article summarized the karyotype,pathogenesis,and the clinical manifestations of the sSMC-related chromosome 18p abnormalities.The patients with sSMC usually presented with abnormal chromosome syndrome.Some syndromes are relative common,such as Pallister-Killian syndrome,isochromosome 18p syndrome,Cat eye syndromes or Emanuel syndrome.sSMC is considered to be the frequent cause of mental retardation.The patients have no specific symptoms.With the progress of molecular cytogenetics,more sSMC has been identified.Genetic counseling and prenatal diagnosis are important to prevent sSMC.Molecular cytogenetic techniques are necessary to the diagnosis.

Bone-anchored hearing aid is a hearing assisting technology that raise the hearing level via bone conduct and is also the only implantable hearing assisting device working by bone conduct. Because of the superior performance and simple process of implantation, it brings gospel to the patients who are not fitting the air conducting hearing devices. This article is a review of bone-anchored hearing aid from 6 aspects, including history, principle, indication, consulting, surgery and complication.
Hearing Aids ; Humans ; Suture Anchors

Due to the lack of objective examination method, the diagnosis of Meniere's disease mainly relies on subjective symptoms. MRI of the inner ear after gadolinium injections had become a new technology in otology in recent years. The image can clearly distinguish perilymph from endolymph in the labyrinth and can be applied to the imaging diagnosis, evaluation of treatment and the pathogenesis research of Meniere's disease. This article is a review of the development and the application in clinical research of this new technology.
Ear, Inner ; anatomy & histology ; Gadolinium ; Humans ; Magnetic Resonance Imaging ; methods ; Meniere Disease ; diagnosis

Objective To use the genetic diagnosis technique to perform the gene detection in the patients with thalassemia for understanding the main gene mutation types and their gene frequencies .Methods Totally 5 500 outpatients and individuals un‐dergoing physical examination in the hematology department of the Huizhou Municipal Central People′s Hospital from January 2010 to October 2014 were taken as the research subjects .The GAP‐PCR and membrane reverse hypridition technology were adopted to conduct the gene analysis of α‐andβ‐thalassemia .Results A total of 1 604 cases ofα‐globin gene change were detected ,accounting for 29 .16% of the total detected subjects ;1 096 cases ofβ‐globin gene change were detected ,accounting for 19 .93% of the total de‐tected subjects ;119 cases of αβ‐complex thalassemia were detected .Conclusion The gene screening of α‐ and β‐ thalassemia pro‐vides the valuable basic data for conducting the marital and fertility instructions .

Objective To investigate the regulation effect of irbesartan on the expression of angiotensin-converting enzyme 2 (ACE2) mRNA in the kidney of spontaneously hypertensive rats (SHR). Methods Twenty 14-week-old male SHR were randomly divided to SHR group (n=10) and irbesartan group (n=10); ten 14-week-old male WKY group were served as control. Irbesartan group was given a daily dose of 50 mg/kg irbesartan for 12 weeks by gavage and the other two groups were fed with a normal diet. ACE2 in kidney was examined by immunohistochemistry and RT-PCR. Plasma angiotensin II in each group were estimated by radioimmunoassay (RIA). Results The ACE2 mRNA expression was significantly down-regulated in the kidney of SHR group compared with WKY group (0. 72?0. 11 vs 1. 11?0. 15). After 12 weeks treatment with irbesartan, the attenuated ACE2 expression in irbesartan group was markedly enhanced compared with SHR group (1. 03?0. 13 vs 0. 72?. 0. 11). ACE2 mRNA expression in SHR kidney was correlated significantly with plasm angiotensin II level. (r = 0. 83, P

Objective To study the therapeutic effect and significance of Naloxane on the brain function in patients with acute organ phosphorus pesticide poisoning. Methods 106 patients with acute organ phosphorus pesti-cide poisoning were randomly allocated to two groups according to the hospitalized date, the NX group(n=54) and the normal group(n=52). The two groups received the same basic treatment and the dynamic monitor about the changes of the β-EP and MDA levels in each groups, and the NX group was given additional treatment with 0.8 mg Naloxone-intravenous injection every 20 minutes till consciousness recovering or symptoms improved. Results The time of recovering consciousness was (16.71±3.17)h in NX group and (20.84±3.25)h in control group. β-EP and MDA were higher than normal before treatment in all patients (P<0.01), and were significantly reduced after treatment in NX group (P<0.05), the control group had mild change after treatment. Conclusion Relating to the inhibition of oxygen free radicals, Naloxone can reduce time of recovering consciousness and can protect the injured brain of the patients with acute organ phosphorus pesticide poisoning.

Objective To evaluate a new method of arthroplasty by transposing the greater trochanter together with a fascia flap pedicled by a branch of transverse lateral circumflex femoral artery. Methods On the basis of anatomical study, arthroplasty of the hip by transposition of the greater trochanter with fascia flap pedicled by a branch of transverse lateral circumflex femoral artery was performed in 17 patients (18hip). All the patients were followed up for six years and two months to eight years and two months. Results Pain vanished in 10 cases, slight pain remained in 1 patient, walking was nearly normal in 5 patients, and 2 patients were still limping with fast walk. Range of movement of the hip joint was as follows: flexion and extension 60?-120?, adduction 5?-15?, abduction 5?-10?, internal rotation 0?-5?, and external rotation 0?-5?. As shown by radiography, the joint space was obviously enlarged, the configuration of the femoral head was sharp, and the union between the greater trochanter and the femoral head was good. Conclusion Transposition of the greater trochanter with fascia flap pedicled by a branch of transverse lateral circurmflex artery to femoral head could result in a solid union with cartilagenous ossification and satisfactory recovery of function of the hip joint.

Objective To investigate the regrlative role of the cervical sympathetic ganglia on the cochlear blood flow and auditory function in guinea pig.Methods The horseradish peroxidase(HRP) was given to spiral modiolar artery locally for retrograde tracing in guinea pig. Immunohistochemical double-labeled technique was used in this study. The cochlear blood flow and auditory brainstem response(ABR) was measured a week after anilateral superior cervical sympathectony. The animal model of superior cervical sympathectomy following noise exposure in guinea pigs was estableshed to observe the auditory threshold shift.Results Retrogradely labeled neurons with HRP were found in the ipsilateral superior cervical ganglion(SCG). Most of HRP-labeled neurons in SCG were tyrosion hydroxylase(TH) positive. The blood flow of the capillaries of the stria vascularis on the experimental side a week ago were more aplenty than that of the opposite side, but the ABR threshold did not changed before and after ablation of the superior cervical ganglion.A protective role against noise injury was observed after surgical ablation of superior cervical ganglion.Conclusion The superior cervical sympathectomy can influence the cochlear blood flow and auditory function in guinea pig.

OBJECTIVE To analyze the antibiotics usage in perioperative patients of oral surgery in our hospital.METHODS Adopted retrospective review,365 oral surgery inpatients with operation were investigated on medication,course of treatment,wound healing and so on.RESULTS The utilization of antibacterials accounted for 100%.Nitramisole,aminoglycosides,Cephalosporin and penicillins were the main kinds.Single use accounted for 18.63%(66 cases),the bigeminy for 43.29%(158 cases),the trigeminy for 27.12%(99 cases),the utilization with four or more drugs were 18.63%(40 cases);the average of treatment course was 8 days.CONCLUSIONS To strengthen the management of antibacterials,more education of the principle medicine,usage are helful for reducing surgical site infection.

Objective To evaluate the therapeutic effectiveness of postoperative hemorrhage of cholejejunal or pancreato - jejunal anastomotic stoma after pancreato - duodenectomy by the way of fibercholedochoscopy. Meth- ods The drainge tube was extracted out of choledochojejunal anastomotic stoma. And fibercholedochoscopy was in- serted in fistula to affirm hemorrhagic position of choledochojejunal or pancreato - jejunal anastomotic stoma. And then local coagulation and microwave solidifying was proceeded with. Local spray of Galla - chineses compound solution was performed for hemostasis. Results We succeeded in hemorrhage of four choledochojejunal and six pancreato - jejunal anastomotic stoma One failed for frequent hemorrhage in pancreato - jejunal anastomotic stoma. Conclu- sion Fibercholedochoscopy is the first selective and effective method in the diagnosis and treatment of postoperative hemorrhoge of pancreato - jejunal or choledochojejunal anastomotic stoma after whipple operation.