Electronic cigarette use among junior high school students of health promotion schools in Xihu District / 预防医学

Objective@#To investigate electronic cigarette (e-cigarette) use and its influencing factors among junior high school students of health promotion schools in Xihu District, Hangzhou City, so as to provide insights into school-based tobacco control.@*Methods@#Grade 1 to 3 junior high school students of health promotion schools in Xihu District were recruited using a multi-stage stratified cluster sampling method from September to December, 2021. The participants' demographic features, e-cigarette use and exposure to tobacco advertising were collected using the Chinese version of the Global Youth Tobacco Survey, and the factors affecting the intention to use e-cigarettes were identified using a multivariable logistic regression model.@*Results@#The 1 677 respondents included 875 boys (52.18%) and 802 girls (47.82%), and grade 1 to 3 junior high school students consisted of 33.93%, 35.00% and 31.07% of all respondents, respectively. There were 1 461 students that had heard of e-cigarettes (87.12%), 101 students with intention to use e-cigarettes (6.02%), and 24 current users (1.43%). Multivariable logistic regression analysis identified living in rural areas (OR=2.364, 95%CI: 1.442-3.875), having close friends that were smokers (OR=5.614, 95%CI: 3.404-9.258), having seen smoking via TV, video or movie in the past 30 days (OR=2.106, 95%CI: 1.259-3.523), having received free tobacco products (OR=3.887, 95%CI: 1.172-12.894), considering e-cigarettes as nicotine-free (OR=208.442, 95%CI: 55.713-779.856), and considering smoking making comfortable at party (OR=4.534, 95%CI: 1.853-11.090) as factors affecting intention to use e-cigarettes. There were 38.04% (638/1 677) of junior high school students with exposure to advertisements for e-cigarettes and related products, and stores, supermarkets, convenience stores, grocery, e-cigarette experience stores or offline retail stores were the primary places to contact e-cigarettes and related products.@*Conclusions@#The percentage of intention to use e-cigarettes was low among junior high school students of health promotion schools in Xihu District in 2021, and their intention to use e-cigarettes was mainly affected by close friends' smoking status and personal recognition.

Effect of target silencing FGF8b gene on proliferation and apoptosis of ovarian cancer SKOV-3 cells / 中华内分泌外科杂志

Objective To investigate the effect of targeted silencing FGF8b gene on the proliferation and apoptosis of ovarian cancer SKOV-3 cells and its possible molecular mechanism.Methods The design and synthesis of small interfering RNA targeting FGF8b (siRNA),was transfected into ovarian cancer cell SKOV-3,using four methyl thiazolyl tetrazolium (MTT) method to detect cell proliferation and apoptosis of TUNEL kit cells.The expression of Bcl-2 and Bax protein by Western blot assay in cells.Results FGF8b siRNA could inhibit the expression of FGF8b protein in ovarian cancer SKOV-3 cells.The experimental group showed a high proportion of TUNEL positive cells(22.33±2.517) (P＜0.01).The down-regulation of FGF8b protein significantly inhibited the proliferation of ovarian cancer SKOV-3 cells,reduced the expression of Bcl-2(0.586±0.025) (P＜0.01),and increased the expression of Bax(0.334±0.019) (P＜0.01).Conclusion Down regulation of FGF8b expression can inhibit the proliferation of ovarian cancer SKOV-3 cells and induce cell apoptosis,which may be related to the expression changes of Bcl-2 and Bax protein,suggesting that FGF8b plays an important role in the development of ovarian cancer.

Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis.</p><p><b>METHODS</b>Karyotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was used to evaluate splicing mutation of the RNA transcripts.</p><p><b>RESULTS</b>DNA sequencing showed the proband of family 1 has carried a novel maternal UBE3A splice acceptor site mutation, resulting in a guanine-to-cytosine transversion (IVS15-1G>C). Reverse transcription PCR revealed the proband and his mother both carried heterozygous mutant transcripts with loss of 54 and 59 nucleotides in exon 16, respectively. The proband displayed severe mental retardation, ataxia, seizures and inappropriate laughter. The siblings of family 2 has carried a novel maternal missense mutation in exon 16 of the UBE3A gene (c.2540C>T). She also presented with mental retardation, absent speech, mild ataxia and inappropriate laughter.</p><p><b>CONCLUSION</b>The novel IVS15-1G>C and c.2540 C>T mutations of the UBE3A gene probably underlie the AS in the two families. Compared with small-scale mutations, larger fragments mutations can produce more severe phenotypes.</p>

Therapeutic effect of behavioral nursing on patients with atherosclerotic stenosis after percutaneous coronary intervention / 心血管康复医学杂志

Objective:To explore therapeutic effect of behavioral nursing on patients with atherosclerotic stenosis after percutaneous coronary intervention (PCI).Methods: A total of 112 patients with atherosclerotic stenosis treated in our hospital were selected.According to ramdom number table and parallel control analysis method, they were randomly and equally divided into routine nursing group and behavioral nursing group (received more active behavioral nursing based on routine nursing group), both groups were treated and observed for six months.The self-care ability scale score before and after nursing, incidence of complications and quality of life (QOL) score after six months were compared between two groups.Results: Compared with before nursing care, after six-month nursing, self-care ability scores significantly rose in both groups, P<0.01 both;compared with routine nursing group after six months, there were significant rise in self-care ability score [(110.34±12.84) scores vs.(128.49±11.39) scores](P=0.001) and each dimension score of QOL(P=0.001 all), and significant reduction in incidence rate of complications (21.4% vs.7.1%,P=0.031) in behavioral nursing group.Conclusion: Behavioral nursing can improve self-care ability, quality of life, promote rehabilitation, effectively reduce occurrence of postoperative complications in patients with atherosclerotic stenosis after percutaneous coronary intervention.

Diagnostic follow-up for a case of mosaic trisomy 22 by non-invasive prenatal testing / 中华检验医学杂志

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

Phenotypic and genetic analysis of four patients with 13q33-q34 microdeletion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the correlation between 13q33-q34 microdeletion and clinical phenotype.</p><p><b>METHODS</b>Routine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations.</p><p><b>RESULTS</b>The karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13). Patient 3 showed 46, XX, r(13) (p11.2q32) [43]/45, XX, 13[4]/46, XX, r(13;13) [2]/47, XX, 2r(13;13) [1]. Patient 4 did not undergo chromosome karyotyping analysis. Array analysis showed that four patients have different microdeletions in 13q33-34 region and had common features of 13q33-q34deletion including intellectual disability, facial dysmorphism, microcephaly, hypotonia, low birth weight and genital abnormality.</p><p><b>CONCLUSION</b>The severity of phenotypes showed no correlation with the size of deletion in 13q33-q34. The lower percentage of patients with congenital heart disease suggested a complex pathogenesis of such disease. EFNB2, LIG4 and SOX1 in 13q33-34 region are promising candidates for mental retardation. LIG4 was also a likely candidate for microcephaly.</p>

Effect of penehyclidine hydrochloride pretreatment on Nrf2∕HO-1 signaling pathway in renal tissues of rats with rhabdomyolysis-induced acute kidney injury / 中华麻醉学杂志

Objective To investigate the effect of penehyclidine hydrochloride ( PHC) pretreat?ment on nuclear factor erythroid 2?related factor 2∕heme oxygenase?1 ( Nrf2∕HO?1) signaling pathway in re?nal tissues of rats with rhabdomyolysis?induced acute kidney injury ( AKI) . Methods Thirty?six pathogen?free male Sprague?Dawley rats, weighing 200-220 g, were assigned into 3 groups ( n=12 each) using a random number table: control group (group C), group AKI and PHC pretreatment group (group PHC). Rhabdomyolysis was induced by intramuscular injection of 50% glycerol 10 ml∕kg in bilateral hindlimbs. PHC 0?2 mg∕kg was injected intraperitoneally at 30 min before glycerol was injected intramuscularly in group PHC. At 1 and 6 h after glycerol injection, serum was collected for determination of blood urea nitro?gen ( BUN) and creatinine ( Cr) concentrations, and bilateral kidneys were harvested for pathological ex?amination and for determination of HO?1 activity and expression of Nrf2 mRNA and HO?1 mRNA ( by quan?titative real?time polymerase chain reaction) , Nrf2 in nucleoprotein and total protein and HO?1 in total pro?tein in renal tissues ( by Western blot) . The damage to the renal tubules was scored. Results Compared with group C, the BUN and Cr concentrations in serum and renal tubular damage scores were significantly increased, the expression of Nrf2 in nucleoprotein and total protein and HO?1 in total protein was signifi?cantly up?regulated, and HO?1 activity was significantly increased in AKI and PHC groups, the expression of HO?1 mRNA was significantly up?regulated in group AKI, and the expression of Nrf2 mRNA and HO?1 mRNA was significantly up?regulated in group PHC (P<0?01 or 0?05). Compared with group AKI, the BUN and Cr concentrations in serum and renal tubular damage scores were significantly decreased, the ex?pression of Nrf2 in nucleoprotein and total protein and HO?1 in total protein was significantly up?regulated, and HO?1 activity was significantly increased in group PHC ( P<0?01 or 0?05) . Conclusion The mecha?nism by which PHC pretreatment attenuates rhabdomyolysis?induced AKI may be related to activation of Nrf2∕HO?1 signaling pathway in renal tissues of rats.

Effect of penehyclidine hydrochloride pretreatment on rhabdomyolysis-induced acute kidney injury in rats / 中华麻醉学杂志

Objective To evaluate the effect of penehyclidine hydrochloride pretreatment on rhabdomyolysis-induced acute kidney injury (AKI) in rats.Methods Forty-two pathogen-free male SpragueDawley rats,weighing 200-220 g,aged 2 months,were randomly divided into 3 groups using a random number table:control group (group C,n =6),AKI group (n =18),and penehyclidine hydrochloride group (group PH,n =18).The model of rhabdomyolysis-induced AKI was established by injecting 50％ glycerol 10 ml/kg into the lateral muscle of bilateral hindlimbs in AKI and PH groups.The equal volume of normal saline was given in group C.Penehyclidine hydrochloride 0.2 mg/kg was injected intraperitoneally at 30 min before administration of glycerol in group PH.Six rats were selected at 1 h after administration of normal saline in group C,or at 1,6 and 24 h after administration of glycerol,blood samples were collected from the inferior vena cava for determination of the serum blood urea nitrogen (BUN) and creatinine (Cr) concentrations by enzymic colorimetric method.The animals were sacrificed,and kidney specimens were obtained for pathologic examination and for determination of the expression of DJ-1 and phosphatase tensin homolog deleted on chromosome 10 (PTEN) encoding protein (by immuno-histochemistry and Western blot).The damage to the renal tubules was scored.Results Compared with group C,the serum BUN and Cr concentrations and renal tubular damage score were significantly increased,the expression of D J-1 was down-regulated,and the expression of PTEN protein was up-regulated in group AKI (P＜0.05 or 0.01).Compared with group AKI,the serum BUN and Cr concentrations and renal tubular damage score were significantly decreased,the expression of DJ-1 was up-regulated,and the expression of PTEN protein was down-regulated in group PH (P＜0.05 or 0.01).Conclusion Penehyclidine hydrochloride pretreatment can reduce rhabdomyolysis-induced AKI probably by up-regulating the expression of DJ-1 and down-regulating the expression of PTEN protein in rats.

Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies.</p><p><b>METHODS</b>Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results.</p><p><b>RESULTS</b>Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies.</p><p><b>CONCLUSION</b>The patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.</p>

Clinical features and electrophysiology analysis of 13 cases of infantile spinal muscular atrophy / 上海交通大学学报（医学版）

Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy,and explore the clinical significance of genetic diagnosis. Methods The clinical data of 13 infants suffering from infantile spinal muscular atrophy were analysed.The serum creatine phosphokinase was examined,and nerve conduction velocity was tested in median nerve,ulnar nerve,tibial nerve and peroneal nerve.The parameters such as distal motor latency,motor nerve conduction velocity and amplitude of compound motor active potential were analysed.Electromyography was performed in no less than four muscles,and the insertion potential,spontaneous potential and motor unit action potential were observed.Deletion of exon 7 in SMN1 gene was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results All these infants were characterized by progressive flaccid paralysis in limbs.In all cases,amplitude of muscle response was significantly decreased,with prolonged distal latency and slowed conduction velocity.Electromyography demonstrated motoneuron degeneration.Deletion of exon 7 in SMN1 gene was detected in all 13 infants. Conclusion There are unique clinical and electrophysiology features for infantile spinal muscular atrophy,and electromyography may play an important role in the diagnosis.Prenatal genetic diagnosis may help to avoid the birth of this kind of infants.