Objective To explore the safety and invasion of endoscopic thyroidectomy(ET).Methods A total of 156 cases of benign thyroid diseases were surgically treated from January 2003 to December 2005,including 64 cases of endoscopic thyroidectomy(Endoscopic Group) and 92 cases of traditional thyroidectomy(Traditional Group).The operation time,hemorrhage volume,length of incision,Visual Analogue Scale(VAS) scores for pain severity and cosmetic appearance,analgesic requirements,postoperative hospital stay,hospitalization costs,wound infection rate,and recurrent rate were compared between the two groups,respectively.Results The operation was successfully completed in both of groups.No hemorrhage,hoarseness,or hypocalcemia was encountered.Wound hydrops occurred in 4 cases in the Traditional Group.As compared with the Traditional Group,the Endoscopic Group had less blood loss(15?10 ml vs 20?15 ml;t=-2.330,P=0.021),lower VAS pain scores(2.5?1.0 vs(5.0?)1.6;t=-11.079,P=0.000),higher VAS cosmetic scores(8.0?1.5 vs 2.0?1.2;t=27.696,P=0.000),and less analgesic requirements(10 cases vs 28 cases;?~2=4.493,P=0.034),but longer operation time(80?20 min vs 70?30 min;t=2.330,P=0.021) and higher hospitalization costs(5 352.7?978 yuan vs 4 738.5?672 yuan;t=4.651,P=0.000).Follow-up observations for 2~30 months(mean,13 months) revealed recurrence in 2 cases in the Endoscopic Group and 3 cases in the Traditional Group.Conclusions As compared with traditional operation,endoscopic thyroidectomy has advantages of minimal invasion,early recovery,short hospitalization time,and high safety,being an ideal option for benign thyroid diseases.

Objective To explore the feasibility and reliability of laparoscopic assisted thyroidectomy. Methods A transversal 2.0 cm incision was made at the site 1.0 cm above the sternal notch. By using a harmonic scalpel under a 5 mm laparoscope, the thyroid glands and involving blood vessels were dealt with by either “coagulation-dissection-suction” technique or “dissection-coagulation-disconnection” technique to complete thyroid enucleation or lobectomy. Results There were 20 cases of adenoma (nodule) excision and 6 cases of unilateral lobectomy. The operation time was 80~130 min (mean, 100 min). The intraoperative blood loss was 10~40 ml (mean, 20 ml). No surgical complications occurred. Follow-up checkups in 23 cases for 1~)20 months (mean, 9 months) found a satisfactory cosmetic result and no recurrence. Conclusions Thyroidectomy under laparoscope is safe and reliable. This procedure offers a shorter incision, less invasion and better cosmetic results as compared with conventional thyroidectomy.

Objective To investigate the characteristics and clinical significance of ocular vestibular evoked myogenic potential (oVEMP) and caloric test in Meniere disease (MD) at different hearing stages.Methods Fifty-five patients(52.8±15.8 years old) with MD were divided into stage 1(9 cases,48.8±13.8 years old), stage 2(9 cases,46.0±16.3 years old), stage 3(23 cases,50.3±13.5 years old) and stage 4(cases 14, 53.5±16.2 years) respectively according to the pure tone audiometry.They were evaluated by oVEMP and caloric test.Results The abnormal rates of oVEMP were 55.6%, 66.7%, 78.3%, 78.6%,and caloric tests were 22.2%, 33.3%, 78.3%,and 85.7% respectively in stage 1, 2, 3, and 4 MD patients.The amplitudes of oVEMP in stage of 1, 2, 3, and 4 MD patients were 4.3±4.0 μV,3.5±2.3 μV,2.5±2.4 μV,and 1.3±0.5 μV,respectively.Conclusion The abnormal rates of oVEMP and caloric tests in MD patients increased with the degree of hearing impairment and the amplitudes of oVEMP were decreased, suggesting that utricle and horizontal semicircular canal injuries were aggravated.

Objective: To study the methylation state within MAGE 1 B′B promoter in gastric carcinoma and the association between demethylation and pathological differentiation, the association between demethylation and clinical stage. Methods: Using methylation sensitive restriction analysis followed by polymerase chain reaction (PCR),we studied 80 specimen that were obtained from surgical samples (including 40 gastric carcinoma and 40 matched adjacent normal gastric mucosae).Results: An demethylation state was identified in DNA from gastric carcinoma specimens.The demethvlation rate is 25%(10/40).In contrast,no demethylation state was identified in DNA from matched adjacent normal gastric mucosae. The differences were Significant statistically. ln our study, the demethylation in poorly, moderately, and well differentiated glandulous cell carcinoma were detected at frequencies of 50%,18.7% and 8.3%,respectively, The differences were significant statistically ( P

Objective To estimate clinical application of multiplex ligation-dependent probe amplification (MLPA) for rapid prenatal detection of aneuploid abnormalities in amniotic fluid.Methods Totally 1229 amniotic fluid samples were collected from the pregnant women receving prenatal diagnosis for chromosomal abnormalities in Prenatal Diagnosis Center of Shenzhen Maternity and Child Healthcare Hospital from October 2009 to December 2010.All the samples were investigated independently with both MLPA and G-band karyotyping to detect aneuploidies of chromosomes X,Y,13,18 and 21.A comparison was followed the results acquired from two methods for evaluation of sensitivity and specificity of MLPA.ResultsThirtyeight aneuploidies were detected by G-band karyotyping,in which 34 were nonmosaic aneuploidies and 4were mosaic aneuploidies.MLPA and G-band karyotyping had consistent results in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21. Among 4 mosaic aneuploidies detected by G-band karyotyping,2 were confirmed by MLPA independently.Conclusions The sensitivity and specificity of MLPA in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21 were clinically acceptable.MLPA provides an efficient,reliable method for rapid detection of aneuploidies.

The relationship between abnormal circulating GH-insulin-like growth factor (IGF) axis and hypoglycaemia was explored in 2 cases of non-islet cell tumor associated hypoglycaemia (NICTH). Serum level of IGF-Ⅱ was increased, the levels of GH, IGF-Ⅰ, IGFBP-3 were decreased to some extent, and IGF-Ⅱ/IGF-Ⅰ (molar ratio) was significantly increased in these two cases. In one case, circulating GH-IGF axis returned to normal after complete removal of the tumor. In the diagnosis of NICTH, the abnormal circulating GH-IGF axis is quite valuable and IGF-Ⅱ/IGF-Ⅰ appears to be a more sensitive parameter.

OBJECTIVETo confirm the genetic diagnosis for providing services for genetic counseling and prenatal diagnosis, we analyzed the clinical and genetic data of a pedigree which is clinically diagnosed as Joubert syndrome.

METHODA Joubert syndrome pedigree was enrolled as subject of this study from our hospital's outpatients in 2013. Following the medical history collection of the proband and the suffering fetus, target sequence capture and the next-generation sequencing technology were used for the proband and the suffering fetus to find the causative genes and sanger sequencing for the members of the pedigree to check and verify if the inherited mutations are in accordance with the Mendelian inheritance. Combining the clinical symptoms and signs with the total testing results, we analyzed the Joubert syndrome pedigree clinically and genetically.

RESULTThe proband showed abnormal respiratory patterns (neonatal tachypnea) and hypertonia without abnormal eye movements, and reflected the molar tooth sign on the magnetic resonance imaging. And afterwards the patient developed hypotonia, ataxia, growth and intellectual disability accompanied by congenital blepharoptosis. There were no any symptoms and signs of liver, kidney and eyesight abnormalities so far. The affected fetus showed hydrocephalus by the auxiliary examination during the second trimesters of pregnancy without any appearance deformities. Both the proband and the affected fetus carried a missense mutation of CC2D2A gene c.2999A > T (p.Glu1000Val) from their father and carried the deletion of exon 20-21 on the same gene. Both variations were confirmed to be the Mendelian genetic compound heterozygous pattern. Whereas, the missense mutations c.2999A > T (p.Glu1000Val) on the CC2D2A gene have been proved to be inherited from the proband's father and the proband as well as the affected fetus. However, the proband's mother was normal at this locus of CC2D2A gene. The missense mutations c.2999A >T (p.Glu1000Val) have been confirmed to accord with Mendelian inheritance.

CONCLUSIONThe Joubert syndrome patient may show hypertonia in the early postnatal days as a result of hydrocephalus during the second and third trimesters of pregnancy besides manifesting hypotonia, ataxia, growth and intellectual disability markedly with age accompanied by the congenital blepharoptosis and revealing the molar tooth sign on the magnetic resonance imaging, considering the medical history and the whole testing results, the compound heterozygous mutations of c.2999A > T (p.Glu1000Val) and deletion of exon 20-21 of CC2D2A gene in the pedigree may be the causal gene mutations.

Abnormalities, Multiple ; genetics ; Cerebellar Diseases ; Cerebellum ; abnormalities ; Exons ; Eye Abnormalities ; genetics ; Female ; Genetic Testing ; Heterozygote ; Humans ; Hydrocephalus ; Kidney Diseases, Cystic ; genetics ; Male ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Proteins ; genetics ; Retina ; abnormalities

OBJECTIVETo perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.

METHODSMutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.

RESULTSA novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein.

CONCLUSIONA novel c.956 A>T substitution mutation has been identified in a patient featuring MED.

Adult ; Base Sequence ; Cartilage Oligomeric Matrix Protein ; Exons ; Extracellular Matrix Proteins ; genetics ; Female ; Glycoproteins ; genetics ; Humans ; Matrilin Proteins ; Mutation ; Osteochondrodysplasias ; diagnosis ; genetics ; Polymorphism, Single Nucleotide ; Sequence Alignment

OBJECTIVETo use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.

METHODSGenomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.

RESULTSAll of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.

CONCLUSIONBoth array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.

Adult ; Child ; Chromosome Deletion ; Chromosome Duplication ; Comparative Genomic Hybridization ; Humans ; Infant ; Karyotyping ; Male ; Multiplex Polymerase Chain Reaction ; Phenotype ; Translocation, Genetic

OBJECTIVETo study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.

METHODSPCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.

RESULTSThe DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.

CONCLUSIONThe E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.

Adult ; Amino Acid Sequence ; Androgen-Insensitivity Syndrome ; genetics ; Animals ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Receptors, Androgen ; chemistry ; genetics ; Sequence Alignment ; Young Adult