Impact of pregnancy terminations before 28 weeks of gestation on the overall prevalence of neural tube defects in two counties of Shanxi province / 中华流行病学杂志

Objective To examine the impact of pregnancy termination before 28 weeks of gestation on the overall prevalence of neural tube defects (NTDs).Methods Data collected during the period of 2004 and 2010 from a birth defects surveillance system in Pingding county and Talgu county of Shanxi province were used.Number of births ≥28 weeks of gestation and number of cases with major birth defects among the births were collected.Terminations of pregnancies before 28 weeks of gestation due to prenatal diagnosis were also collected.The total prevalence of neural tube defects,prevalence before 28 weeks of gestation,and prevalenee of ≥28 weeks gestation were calculated using the total number of pregnancies of ≥28 weeks of gestation as denominator.The prevalence data were compared to examine the impact of pregnancy termination on the total prevalence.The proportions of pregnancy terminations before 28 weeks of gestation due to prenatal diagnosis of an NTD against the total number of NTD cases were also calculated.Results During 2004-2010,52 366 births were recorded,and 485 NTD cases were ascertained.The overall prevalence of NTDs was 92.6 per 10 000 births,with prevalence of ＜28 weeks gestation due to pregnancy terminations as 60.9 per 10 000 births,while the prevalence of ≥28 weeks of gestation was 31.7 per 10 000 births.NTD prevalence of ≥28 weeks gestation was 66.0％ lower than the total NTD prevalence.In the last two years,the proportion of NTDs ascertained ≥28 weeks gestation accounted for about 40.0％ of the total NTD cases.Conclusion A birth-defect-surveillance program that covered only tregnancies ≥28 weeks of gestation resulted in a severe underestimation of the total birth prevalence of NTDs,especially for anencephaly.We would recommend that the current national birth defects surveillance system should include pregnancy terminations before 28 weeks of gestation and the calculation of total NTD prevalence should also include these cases into the numerator,so as to better estimate true population NTD prevalence,upon which the related public health policy is based.

Effect of brain-derived neurotrophic factor gene transfected bone-marrow mesenchymal stem cells on damaged cochlear spiral ganglion cells of guinea pigs / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the protective role of brain-derived neurotrophic factor (BDNF) gene transfected bone-marrow mesenchymal stem cells (BMSC) on cochlear spiral ganglion cells (SGC) impaired by aminoglycoside antibiotics (AmAn).</p><p><b>METHODS</b>The differentiation of BMSC transfected by BDNF gene (BDNF-BMSC) were detected with immunohistochemical examination of Nestin, neuron-specific enolase (NSE), and glial fibrillary acid protein (GFAP) antibody in vitro. BDNF gene transfected BMSC were transplanted into the cochleae of guinea pigs deafened by amikacin, while the control groups were designed in which artificial perilymphatic fluid (APF), BMSC or BDNF gene was injected into cochleae alone. The cochleae were obtained on the week 1, 2 and 4 after injection, respectively, paraffin-embedded, and cut in a paramodiolar plane subsequently. The histopathological changes of cochleae were observed, the density of SGC was calculated by staining with HE, and the corresponding optical density (COD) was calculated with immunohistochemical staining using NSE antibody. And the protective role of various groups on the cochlear SGC were compared.</p><p><b>RESULTS</b>The positive staining rate of BDNF gene transfected BMSC with Nestin, NSE and GFAP antibody were all higher than that of BMSC in vitro (P < 0.01). After transplantation into cochleae, the differences of SGC density and COD among various groups were all significant on the same time points (P < 0.05). The SGC density and COD of the BDNF gene transfected BMSC group were the highest. The SGC density and COD of various groups on week 4 were all obviously decreased than those on week 1 and 2 (P < 0.05).</p><p><b>CONCLUSION</b>AmAn-induced SGC damage could be depressed by BMSC, BDNF gene or BDNF gene transfected BMSC transplantation into cochleae, while BDNF gene transfected BMSC showed the best protective role.</p>

Reconstructive methods for hypopharynx and cervical esophagus / 中南大学学报(医学版)

OBJECTIVE@#To review the surgical treatment for reconstructing hypopharynx and cervical esophagus after hypopharyngo-oesophagectomy, and to evalue its efficacy.@*METHODS@#Different methods were adopted to reconstruct the hypopharynx and cervical esophagus among 25 cases, including 14 cases of carcinoma of the hypopharynx and 11 of carcinoma of hypopharynx and cervical esophagus. In accordance with the standard of the International Union Against Cancer in 1997, the 25 cases were divided into different clinic stages, among which 5 were in T(2)N(0), 2 in T(2)N(1), 4 in T(3)N(0), 3 in T(3)N(1), 7 in T(4)N(1) and 3 in T(4)N(2). Treatment protocol was as follow: Pure operation for 5 cases, re-operation after radiotherapy for 2 cases, operation plus radiotherapy for 18 cases, laryngeal conservation operation for 8, and neck dissection for 21 cases. Reconstruction was done by using free jejunal transplantation, gastric pull-up, the laryngotracheal flap, and myocutaneous flap.@*RESULTS@#After the reconstruction, 3 cases of free jejunal graft and gastric pull-up, 4 of laryngotracheal flap recovered oral fleeding within 2 weeks. No serious complications occurred. After 18 cases underwent the myocutaneous flap reconstruction, no complications occurred in 10 patients, but there were different complications in 8 cases, including pharyngocutaneous fistula (6 cases), haryngoesphageal stenosis (7 cases), and pectoralis major myocutaneous flap necrotic (1 case). The 3-year survival rate was 38.9% (7/18).@*CONCLUSION@#Reconstruction with free jejunal graft, gastric pull-up, and laryngotracheal flap constitutes is a safe and reliable method to restore the continuity of the upper digestive tract after pharyngo-laryngo-oesophagectomy. After the reconstruction with myocutaneous flap, there is high incidence of pharyngocutaneous fistula and haryngoesophageal stenosis.

Clinical phenotypes, ALK1 gene mutation and level of related plasma proteins in Chinese hereditary hemorrhagic telangiectasia / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>We determined the diagnosis of hereditary hemorrhagic telangiectasis (HHT) in a suspected HHT family, identified ALK1 gene mutation and established a gene diagnosis method of HHT. The level of related plasma proteins (transforming growth factor beta and thrombomodulin) were also analyzed.</p><p><b>METHODS</b>Bleeding history and family history were collected; Dilatant nasal mucosal capillaries in proband were observed under nasal cavity endoscope; exons 3, 7, 8 of ALK1 gene in proband and her family members were amplified with polymerase chain reaction (PCR), and the PCR products were analyzed. Using enzyme-linked immunosorbent assay (ELISA), plasma TGF-beta1 and TGF-beta2 concentrations were measured. Plasma thrombomodulin (TM) level was detected by Western blotting.</p><p><b>RESULTS</b>Of all family members, four had epstaxis, two had evident telangiectases on skin or mucosa. Gene screening results showed that C to T substitution at position 1231 in exon 8 of ALK1 gene (CGG-->TGG) existed in proband, her affected brother and their father. The mutation did not exist in proband's sister-in-law and nephew. Plasma TGF-beta1 concentrations in the affected HHT was 20,538, 17,194, 13,131 pg/ml, while that of normal control and unaffected family members was 15,950, 20,297, 12,836 pg/ml, respectively. Plasma TGF-beta2 in HHT patients was 14,502, 9550, 10,592 and that of normal controls 8579, 20,297, 7680 pg/ml respectively. Level of plasma TM was in HHT subjects significantly lower than in normal subjects.</p><p><b>CONCLUSIONS</b>Chinese HHT individuals have mutant ALK1 gene, a C1231T variation on exon 8 of ALK1 is responsible for HHT clinical phenotypes in this family. ALK1 gene analysis, together with special clinical phenotypes and family history, provides a reliable method in diagnosing HHT. In affected HHT subjects, plasma TGFbeta levels were not obviously different from those of normal subject; while plasma TM concentration was significantly lower than that in normal subjects. The significance and mechanism remain to be elucidated.</p>