Fanconi Anemia ; diagnosis ; therapy ; Humans

OBJECTIVE To investigate the genetic causes of deaf patients in a special educational school of Chifeng city, Inner Mongolia by SLC26A4 whole gene sequencing. This study focused on analyzing mutations of coding sequence of SLC26A4 gene and their relevant phenotype. METHODS DNA were extracted from peripheral blood of 134 deaf patients of Chifeng special educational school and 100 normal hearing controls in Northern China. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. All individuals found with SLC26A4 mutation were given temporal bone CT scan, and those with confirmed enlarged vestibular aqueduct and/or other malformation of inner ear were then given further ultrasound scan of thyroid and thyroid hormone assays. RESULTS The sequencing results revealed 32 cases carried SLC26A4 mutation. Twenty-nine cases underwent temporal bone CT scan. Twentycases were confirmed to have malformation of inner ear by CT scan (eighteen were EVA, one was EVA and other inner ear malformation and one was Mondini Syndrome). The shape and function of thyroid were confirmed to be normal by ultrasound scan of thyroid and thyroid hormone assays in nineteen of these 20 patients except one who had cystoid change in the right side of thyroid. Twelve types of novel variants of SLC26A4 gene were found. CONCLUSION Byscreening SLC26A4 gene coupled with temporal bone CT scan ,we could determine genetic cause related to this gene up to 14.93 % of deaf patients in special educational school of Chifeng city. SLC26A4 is another common gene besides GJB2 that cause deafness in this area. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population.

Objective To investigate the relationship between the total burden of cerebral small vessel disease (CSVD) and the outcomes in patients with large artery atherosclerotic (LAA) stroke.Methods From June 2016 to January 2018,patients with LAA stroke treated at the Department of Neurology,the Affiliated Hospital of Qingdao University were enrolled retrospectively.The overall burden of CSVD was evaluated according to MRI findings.The National Institute of Health Stroke Scale (NIHSS) was used to evaluate theseverity of stroke.The modified Rankin scale (mRS) was used to evaluate the outcomes at day 90 after the onset.The mRS score 0-2 was defined as good outcome,and ＞2 was defined as poor outcome.Results A total of 148 patients with LAA stroke were enrolled,including good outcome in 72 (48.65％) and poor outcome in 76 (51.35％).There were significant differences in the proportions of hypertension (69.44％ vs.85.52％;x2 =5.519,P =0.019),taking antihypertensive drugs before the onset (48.61％ vs.69.74％;x2 =6.845,P =0.009),white matter hyperintensity (18.06％ vs.39.47％;x2 =8.228,P =0.004),enlarged perivascular space (33.33％ vs.60.53％;x2 =10.968,P =0.001),as well as the baseline NIHSS scores (3.00 [2.00-4.00] vs.7.0 [5.0-10.0];Z =-8.159,P =0.001),baseline systolic blood pressure (149.40± 15.80mmHgvs.157.21± 14.05mmHg;t=3.180,P=0.002;1 mmHg=0.133 kPa),fasting glucose (5.91 ±2.06 mmol/L vs.6.92 ±2.65 mmol/L;t =2.595,P =0.010),and the proportions of total CSVD scores 0,1,2,3,and 4 (Z =-4.927,P =0.001) between the 2 groups.After adjustment for the confounding factors,such as hypertension and fasting glucose,multivariate regression analysis showed that the total CSVD score (odds ratio 4.457,95％ confidence interval 1.768-11.236;P =0.002) and baseline NIHSS score (odds ratio 2.070,95％ confidence interval 1.580-2.710;P ＜ 0.001)were the independent risk factors for the poor outcomes in patients with LAA stroke.Conclusions The total CSVD burden was closely associated with the outcomes in patients with LAA stroke.Higher CSVD total score and baseline NIHSS scores were independently associated with the poor outcome at 90 d in patients with LAA stroke.

Objective To investigate perceptions of patient safety culture(PSC) among nurses in tertiary hospitals in Kunming. Methods Totally 2629 nurses were recruited by convenience sampling method from 7 tertiary hospi-tals in Kunming between July 2015 to January 2016. Hospital Survey on Patient Safety Culture (HSOPS) was used to assess PSC. Results The top three superior dimensions of PSC were Organizational Learning-Continuous Im-provement(86.60%),Teamwork within Hospital Units(83.34%) and Feedback and Communication about Error(75.98%). The last three inferior dimensions of PSC wereNonpunitive response to error(23.74%),Staffing(33.71%) and Teamwork across hospital units(49.45%). There were significant differences in certain items among nurses with different educational level,academic title,working hour per week(P<0.05). Conclusion Establishing nonpunitive re-sponse culture,reasonably arranging staffing and working hours,and encouraging nurses with high educational level and title to play their full role,are critical measures to improve patient safety culture in hospital.

Objective To evaluate the effect of isoflurane preconditioning on inflammatory responses during spinal cord injury (SCI ) in rats .Methods Sixty adult male Sprague-Dawley rats ,weighing 250-300 g , were randomly divided into 3 groups ( n= 20 each ) using a random number table :sham operation group (S group) , SCI group , and isoflurane preconditioning group (I group ) . The animals were anesthetized with intraperitoneal pentobarbital sodium 40 mg/kg .SCI was produced by a weight-drop contusion at the T10 level .The rats inhaled 2% isoflurane for 2 h ,and the model was established at 24 h after the end of isoflurane inhalation in I group . Neurological function was assessed and scored by using the the Basso , Beattie , Bresnahan (BBB ) Locomotor Rating Scale on 7 days after SCI .Five rats in each group were then chosen and spinal cord specimens were obtained and cut into sections which were stained with haematoxylin and eosin for determination of the viable neuron count .Fifteen rats in each group were sacrificed and the spinal cord was removed for detection of nuclear factor kappaB (NF-κB ) and interleukin-1β (IL-1β) expression (by Western blot ) .Results Compared with S group ,BBB score and the number of viable neurons were significantly decreased ,and the expression of NF-κB and IL-1βprotein was up-regulated in SCI group ( P<0.05) .Compared with SCI group ,BBB score and the number of viable neurons were significantly increased ,and the expression of NF-κB and IL-1βprotein was down-regulated in group I ( P<0.05 ) .Conclusion The mechanism by which isoflurane preconditioning protects the spinal cord is related to inhibition of inflammatory responses in rats .

Objective studyring the proven and probable invasive pulmonary aspergillosis(IPA) eases of some hospitals in Shanghai to provide evidence fur the improvement of IPA clinical diagnosis and therapy.Methotis Fortv-nine IPA cases were retrospectively analyzed for demography data,host tactors,underlying conditions.chest CT,microorganism and histopathology examination,as well as therapy and clinical outcome.ResultsOf 49 subjects including 19(38.8%)proven and 30(61.2%)probable IPA,3 pailents(6.1%)had no host factors,25 patients(51.0%)had IPA associated host factors and underlying conditions.while 21 patients(42.9%)had uncertained fundamental diseases.Chest CT evaluation demonstrated that radiological lesions include nodules in 29 patients,patching in 15,mass in 12,consolidation in 10.cavitation in 34,Halo sign in 19,air bronchogram in 18,crescentic sign in 6,bilateral in 33 and multifocal lesions in 38.The yielding rate of fungus culture in sputum was 26.5%(13/49),and in bronchoalveolar lavage fluid was 66.7%(10/15).Eleven of thirty-six patients(30.6%)had positive results of serum galactomannan antigen tests.Nineteen of twenty-one patients(90.5%)were proven as IPA by lung histologic examinations.Aspergillus fumigatus was the most common pathogen 81.0%(17/21).The responding rate to initial anti-fugus therapy wag 50%(21/42).Conclusion Our study suggests that in IPA patients,bilateral,muhifocal and nodular lesion could be the most common radiological characteristic,while Halo and crescentic sign occar occasionally.Invasive technologies are more valuable to IPA diagnosis.

Objective To investigate the production and removal of cyclobutane pyrimidine dimer (CPD) by HaCaT cells after UVB irradiation, and the effect of baicalin in this process. Methods HaCaT cells were cultured and irradiated with given dosages of UVB, and the production and removal of CPD by HaCaT cells at given time points after UVB irradiation were assessed by immunohistochemical method. In parallel studies, HaCaT cells were preincubated with baicalin, and the effect on CPD was evaluated. Results The damage to HaCaT cells was dependent on the dosage of UVB radiation. After irradiation with 30 mJ/cm2 of UVB, CPD formation peaked at 0.5 h. CPD was removed rapidly from HaCaT cells during the first 4 h; the rate of removal decreased thereafter, and the removal was almost complete by 24 h after the irradiation. The amount of CPD decreased significantly in HaCaT cells that were preincubated with baicalin solution before UVB irradiation than that in those without the preincubation (U = 2.324, P

Objective To prepare specific mouse monoclonal antibodies against Homo sapiens dynein,axonemal, heavy chain 2 (DNAH2). Methods Firstly, recombinant plasmid encoding His tagged immunogen, targeting N-terminal sequence of DNAH2 protein (1-300 aa), in E. coli was constructed. IPTG was used to induce the expression of His-immunogen, which was then purified and immunized in BALB/c mice. Hybridoma cells were obtained through the fusion between myeloma cells and splenocytes isolated from BALB/c mice. Finally, ELISA and Western blot assays were performed to screen the positive hybridoma. Results IPTG was used efficiently to induce the expression of DNAH2 immunogen in E. coli. DNAH2 protein bands were detected in screened positive hybridoma. Conclusion Mouse monoclonal anti-DNAH2 antibody is prepared successfully.

Objective To compare the effect of continuous positive airway pressure (CPAP)and bilevel positive airway pressure(BiPAP)on the cardiac structure and function of patients with obstructive sleep apnea and hypopnea syndrome(OSAHS).Methods 100 patients with OSAHS were selected as the research subjects.The patients were randomly divided into two groups by digital table method,CPAP group had 50 cases,adopted the CPAP ventilation mode,BiPAP group had 50 cases,adopted the BiPAP ventilation mode.The heart rate,blood pressure, blood brain natriuretic peptide(BNP),nitric oxide(NO),endothelin -1 protease,matrix metalloprotein 9(MMP -9), C -reactive protein (CRP) and polysomnography (PSG) related indicators,cardiac structure and function and endothelial function changes before and after treatment were observed in the two groups,compared the clinical effect of the two modes.Results Before treatment,in both groups,there were no statistical differences in blood pressure,heart rate,BNP,NO,endothelin -1,MMP -9,CRP,PSG related indicators,cardiac structure and function,endothelial function.After six months of noninvasive ventilator treatment,results of the heart rate,systolic pressure,diastolic blood pressure,blood oxygen saturation,oxygen partial pressure,the BNP,endothelin -1,NO,MMP -9,CRP,body mass index,the Epworth sleepiness scale(ESS),Apnea hypoventilation index(AHI),oxygen and lowest at night,aortic di-ameter(AO),left ventricular inner diameter (LA),right ventricular(RV)inside diameter,left ventricular ejection fraction(LVEF),pulmonary artery systolic pressure(PASP)of the CPAP group were (79.83 ±11.47)times/min, (114.06 ±11.45)mmHg,(72.44 ±7.38)mmHg,(97.6 ±1.45)%,(93.17 ±1.86)mmHg,(110.78 ±38.32)ng/L, (17.58 ±2.07)ng/L,(8.55 ±0.55)μmol/L,(372.73 ±189.00)μg/L,(3.34 ±2.29)mg/L,(23.87 ±1.59), (0.98 ±0.70),(0.65 ±0.30),(94.04 ±1.62)%,(31.52 ±2.17 )mm,(31.19 ±1.09 )mm,(20.86 ± 1.69)mm,(61.13 ±5.02)%,(20.74 ±5.49)mmHg.which of the BiPAP group were (80.96 ±8.56)times/min, (114.58 ±9.34)mmHg,(71.67 ±8.57)mmHg,(96.96 ±1.43)%,(94.52 ±1.66)mmHg,(87.63 ±28.33)ng/L, (17.76 ±2.20)ng/L,(8.54 ±0.52)μmol/L,(359.63 ±268.95)μg/L,(4.96 ±2.00)mg/L,(24.15 ±1.65), (0.85 ±0.75 ),(0.58 ±0.19 ),(94.50 ±1.18)%,(31.73 ±1.57 )mm,(31.97 ±1.12)mm,(21.58 ± 2.43)mm,(62.24 ±5.79)%,(21.45 ±3.76)mmHg.In the oxygen partial pressure,the BNP,MMP -9,CRP,ESS score,AHI,LA,LVEF and other indicators,BiPAP mode were better than CPAP mode(t =2.13,4.32,2.13,4.32, 1.39,4.93,2.58,4.36,all P <0.05 ).Conclusion BiPAP mode and CPAP mode can improve cardiovascular function in patients with OSAHS,improve the symptoms of low ventilation,reduce obesity,but in terms of reducing cardiac load,improve blood vessel function,BiPAP mode is better than CPAP.

Objective To explore the feasibility and clinical outcome of lateral cervical incision via sternocleidomastoid intermuscular approach(SMIA)in the treatment of primary hyperparathyroidism.Methods The clinical data of 64 patients with primary hyperparathyroidism who underwent unilateral parathyroid surgery in the First Affiliated Hospital,School of Medicine of Zhejiang University from January 2019 to June 2022 were retrospectively analyzed.They were divided into lateral cervical incision via sternocleidomastoid intermuscular approach group(SMIA group)and linea alba cervicalis approach group(LACA group)based on the surgical incision and access route.The differences in clinical features,surgery-related outcomes and postoperative functions of the anterior cervical region were compared between the two groups.The EQ-5D-5L scale was used to assess the subjective feeling of postoperative neck discomfort,while the Hollander Wound Assessment Scale was used to assess the clinical outcome of incision healing.Results There were no statistical differences between the two groups of patients in terms of age,gender,intraoperative bleeding,parathyroid hormone or blood calcium levels before and after surgery(P＞0.05).The duration of surgery was significantly shorter in the SMIA group than in the LACA group[(39.77±5.69)min vs.(54.41±4.66)min].There was a statistical difference between the two groups in functional protection of the anterior cervical region at 1 month and 12 months after surgery(1 month,84.67±3.74 vs.79.47±5.38,P＜0.001;12 months,93.80±2.52 vs.89.94±2.39,P＜0.001),and the SMIA group was better than the LACA group.The Hollander Incision Assessment Scale scores of the SMIA group were better than those of the LACA group at 6 months and 12 months after surgery,and the difference was statistically significant(6 months,1.93±0.58 vs.2.41±0.66,P=0.003;12 months,1.03±0.67 vs.1.74±0.62,P＜0.001).Conclusion Parathyroidectomy via sternocleidomastoid intermuscular approach through lateral cervical incision is a simple,safe and effective surgical procedure,which makes it easier to search for parathyroid lesions and shortens the surgical time compared with the traditional incision,and has obvious advantages in the protection of anterior cervical region function.