Retrospective analysis of childcare center disinfection in some regions of Anhui Province during 2019-2022 / 中国学校卫生

Objective@#To understand the status of childcare center disinfection around the COVID-19 pandemic, the needs of professional technical support, so as to give advice for improvement measures.@*Methods@#Using multi stage stratified sampling method, one was selected from each area of northern and southern Anhui Province, with 3 counties/districts selected from each city. A total of 54, 58, 60 childcare institutions were selected. A questionnaire survey, as well as on site visits and data check were administered in these childcare centers in Anhui Province were implemented. Information regarding the three stage disinfection work from 2019 to 2022 and technical support needs were collected.@*Results@#A total of 54, 58, 60 childcare centers were investigated in 2019, 2020 and 2021-2022. Most of the childcare centers recorded disinfection work (96.3%, 96.6%, 98.3%), while few of them ( 26.4% , 26.3%, 58.3%) monitored disinfection factor intensity. The implementing rate of disinfection effect evaluation was 68.3% at the stage of normal prevention and control, the highest demand rate for professional technical support was guidance and training ( 95.0% ), and the highest demand rate for training content was disinfectant preparation method (81.7%). There were significant differences in the rate of disinfection tableware room allocation (A: 93.3%, B: 70.0%), and the rate of disinfection effect evaluation among different cities (A: 53.3%, B: 83.3%)( χ 2=6.24, 5.46, P <0.05).@*Conclusions@#From 2019 to 2022, childcare center disinfection has significantly improved, however, disinfection factor intensity monitoring and disinfection effect evaluation are neglected during the stage of normal prevention and control. The demand for professional technical institutions to provide disinfectant preparation method guidance and training is high.It is suggested to strengthen the monitoring and evaluation of disinfection and related technical guidance.

Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the phenotypic-genotypic characteristics of hereditary deafness caused by OTOA gene variations. Methods: Family histories, clinical phenotypes and gene variations of six pedigrees were analyzed, which were diagnosed with hearing loss caused by OTOA gene variations at the PLA General Hospital from September 2015 to January 2022. The sequence variations were verified by Sanger sequencing and the copy number variations were validated by multiplex ligation-dependent probe amplification (MLPA) in the family members. Results: The hearing loss phenotype caused by OTOA variations ranged from mild to moderate in the low frequencies, and from moderate to severe in the high frequencies in the probands, which came from six sporadic pedigrees, among which a proband was diagnosed as congenital deafness and five were diagnosed as postlingual deafness. One proband carried homozygous variations and five probands carried compound heterozygous variations in OTOA gene. Nine pathogenic variations (six copy number variations, two deletion variations and one missense variation) and two variations with uncertain significance in OTOA were identified in total, including six copy number variations and five single nucleotide variants, and three of the five single nucleotide variants were firstly reported [c.1265G>T(p.Gly422Val),c.1534delG(p.Ala513Leufs*11) and c.3292C>T(p.Gln1098fs*)]. Conclusions: OTOA gene variations can lead to autosomal recessive nonsyndromic hearing loss. In this study, the hearing loss caused by OTOA defects mostly presents as bilateral, symmetrical, and postlingual, and that of a few presents as congenital. The pathogenic variations of OTOA gene are mainly copy number variations followed by deletion variations and missense variations.

Identification and transcriptional activity analysis of core regulatory region of human guanylate binding protein 5 gene promoter / 中国生物制品学杂志

@#Objective To construct luciferase reporter plasmids of truncated fragments of different lengths of human guanylate binding protein 5(GBP5)gene promoter and analyze the transcriptional activity of each fragment to determine the core regulatory region.Methods GBP5promoter sequence was amplified by PCR,truncated into five fragments of different lengths and connected to pGL3-basic plasmid.The constructed recombinant plasmids pGL3-GBP5-11/21/31/41/51were transfected into 293FT cells and detected for luciferase activity.The binding sites of transcription factors in GBP5promoter region were predicted by JASPAR software,and Yin-Yang transcription factor 1(YY1)targeting the core regulatory region was selected and verified for the transcriptional regulatory activity.The CDS sequence of YY1 was amplified by PCR to construct the overexpression plasmid pIRES2-EGFP-YY1,which was then co-transfected to 293FT cells with plasmids pGL3-GBP5-21(-1 623 ～ +47 bp)and internal reference plasmid pRL-CMV,and detected for luciferase activity to analyze the regulation of transcription factor YY1 on GBP5 promoter activity.Results Colony PCR and double enzyme digestion identification proved that the plasmid of human GBP5 promoter reporter gene was correctly constructed;JASPAR software predicted that there were multiple transcription factor binding sites such as STAT1,YY1 and Foxp3 in GBP5promoter region.Double luciferase activity assay showed that pGL3-GBP5-21(-1 623 ～ +47 bp)showed the highest promoter activity,while the promoter activity of pGL3-GBP5-41(-520 ～ +47 bp)decreased significantly,suggesting that the core region of GBP5 promoter was located at upstream-1 623 ～-520 bp of 5 'UTR;Overexpression of YY1 significantly activated the GBP5 promoter activity and regulated the expression of GBP5.Conclusion The core regulatory region of human GBP5 promoter was located in upstream-1 623 ～-520 bp of the 5 'UTR,with a binding site of transcription factor YY1 existing in this region.Meanwhile,overexpression of YY1 significantly effected the activity of GBP5 promoter.

Effect and Mechanism of Cxcr4 Gene-Modified BMSC-Derived Exosomes on Aplastic Anemia / 中国实验血液学杂志

OBJECTIVE@#To explore the improvement effect of CXC chemokine receptor 4 (Cxcr4) gene-modified bone marrow mesenchymal stem cell (BMSC)-derived exosomes on aplastic anemia (AA), and make a preliminary exploration of the mechanism.@*METHODS@#Mouse BMSCs were isolated and cultured, then infected by recombinant lentivirus carrying Cxcr4 gene. The expression of green fluorescence was observed through fluorescence microscope, the expression of Cxcr4 mRNA was detected by real-time fluorescence quantitative PCR, and the BMSC-derived exosomes modified with Cxcr4 gene were extracted. Mouse models of AA were constructed, and control group, model group (AA), AA+BMSC group, AA+NC-BMSC group, AA+Cxcr4-BMSC group were set up. Except control group and model group, the other three groups of mice were injected 400 μl exosomes from different sources via the tail vein, after 2 weeks, the routine blood indices and the number of bone marrow nucleated cells were detected, the pathological changes of bone marrow were observed by HE staining, and the expression level of Treg cells was detected by flow cytometry.@*RESULTS@#Mouse BMSCs were successfully isolated, and BMSCs with high expression of Cxcr4 and their exosomes were obtained. Compared with the control group, the number of red blood cell (RBC), white blood cell (WBC), and platelet (PLT), the hemoglobin (Hb) content and proportion of Treg cells in the peripheral blood of mice in the model group significantly decreased (P<0.01), as well as the number of bone marrow nucleated cells (P<0.01). The proliferation level of nucleated cells was low, and the medullary cavity was filled with a large number of fat cells. Compared with the model group, the number of RBC, WBC, PLT, the Hb content and proportion of Treg cells in the peripheral blood of mice in the AA+BMSC group, AA+NC-BMSC group, and AA+Cxcr4-BMSC group significantly increased (P<0.01), as well as the number of bone marrow nucleated cells (P<0.01), and pathological changes of bone marrow were improved. In addition, the number of RBC, WBC, PLT, the Hb content and proportion of Treg cells in the peripheral blood of mice in the AA+Cxcr4-BMSC group were significantly higher than those in the AA+BMSC group (P<0.01), as well as the number of bone marrow nucleated cells (P<0.01).@*CONCLUSION@#Injection of Cxcr4 gene-modified BMSC-derived exosomes has a certain improvement effect on AA mice, and the mechanism may be related to an increase of the proportion of Treg cells.

Comparison of functional recovery of distal radius fracture by suture of pronator muscle through modified Henry approach / 中国骨伤

OBJECTIVE@#To investigate the effect of suture of pronator muscle on forearm function after modified Henry approach for distal radius fractures.@*METHODS@#from January 2018 to December 2020, 220 patients with distal radius fractures were treated with open reduction and locking plate internal fixation through the modified Henry approach. They were divided into two groups according to different suture methods. There were 112 cases in the intraoperative suture group, including 35 males and 77 females;The age ranged from 37 to 65(48.5±7.4) years;AO classification of fracture, 46 cases of type B and 66 cases of type C;After fracture reduction and locking plate fixation, the pronator muscle was opened and sutured. There were 108 cases in the non suture group, 32 males and 76 females;The age ranged from 34 to 67(47.6±7.8) years;There were 41 cases of fracture type B and 67 cases of fracture type C;After fracture reduction and locking plate fixation, the open pronator muscle was not sutured, and it was laid on the surface of the plate in situ. The range of wrist motion (pronation, supination, palmar inclination and dorsiflexion), the score of disability of arm shoulder and hand dash and visual analog scale(VAS) were compared between the two groups at 6 weeks and 6 months after operation.@*RESULTS@#All 220 patients were followed up for 6 to 18 (8.5±1.3) months. There was no significant difference in the range of motion and DASH score of forearm and wrist between the two groups 6 weeks after operation (P>0.05);There was significant difference in VAS score between suture group (2.6±1.2) and non suture group (5.8±2.3)(P<0.05). Six months after operation, there was no significant difference in the range of motion, DASH score and VAS score of forearm and wrist between the two groups(P>0.05).@*CONCLUSION@#The modified Henry approach has no obvious advantages in the range of wrist movement and upper limb function, but the intraoperative suture of pronator can reduce the early postoperative pain. It is suggested that the pronator should be sutured during the operation.

Clinical Study on Calcitriol Combined with Sirolimus in the Treatment of Chronic Primary Immune Thrombocytopenia Patients / 中国实验血液学杂志

OBJECTIVE@#To investigate the clinical efficacy of calcitriol combined with sirolimus in the treatment of chronic primary immune thrombocytopenia (cITP) patients.@*METHODS@#A total of 146 adult cITP patients reated in the First Affiliated Hospital of Hebei North University from March 2017 to March 2020 were randomly divided into observation group (73 cases) and control group (73 cases) according to random number table. The control group was treated with oral sirolimus capsule, the observation group was treated with oral calcitriol capsule combined with sirolimus capsule, and the curative effect of the 2 groups was evaluated after continuous treatment for 6 weeks. The changes of World Health Organization (WHO) bleeding grade, laboratory related index, including peripheral blood regulatory T cell (Treg), serum 1,25-dihydroxy-vitamin D@*RESULTS@#The total effective rate of the observation group was 79.5% (58/73), which was significantly higher than 64.4% (47/73) of the control group (P<0.05). The revised WHO bleeding grades after treatment were significantly better than those before treatment in the 2 groups (P<0.05), but the observation group was improved more significantly than the control group (P<0.05). After treatment, platelet count (PLT), peripheral blood Treg cell ratio, and serum 1,25(OH)@*CONCLUSION@#The overall efficacy of calcitriol combined with sirolimus in the treatment of cITP in adults is satisfactory, which can effectively alleviate patient's condition, improve the quality of life, further increase the platelet level and decrease the expression of VDR in peripheral blood lymphocyte, the mechanism may be related to increasing the level of serum 1,25(OH)

Collective exposure to lead from an approved natural product-derived drug in Korea

BACKGROUND: In Asian countries, including Korea, lead poisoning caused by traditional herbal medicines is often observed in the clinic. However, there have been no reports thus far of lead poisoning caused by drugs that were approved by the Korea Food and Drug Administration (KFDA). Here, we describe seven patients who ingested a problematic natural product-derived drug (NPD). CASE PRESENTATION: In July 2018, seven patients visited a university hospital after ingesting an NPD, S. capsules. These patients complained of various symptoms, and their blood lead levels (BLLs) were elevated relative to those of the general population (arithmetic mean: 19.5 ± 11.6 µg/dL, range: 6.28–35.25 µg/dL). The total doses and BLLs were directly proportional to each other among the patients (r = 0.943, p = 0.001). After the patients discontinued drug intake, their BLLs decreased gradually. The capsule was confirmed to contain lead above the standard value (arithmetic mean: 2,547 ± 1,821.9 ppm). CONCLUSION: This incident highlights the need to strengthen standards for the management of NPD ingredients in Korea. NPDs are more likely to be contaminated than other drugs. Thorough management by the KFDA is essential to prevent a recurrence. Moreover, systematic health care is needed for many patients who have taken problematic NPDs.

Comparative Study on Personality Assessment Inventory and MMPI-2 Profiles of Groups with High and Low Depression and Suicide Ideation in Psychiatry Patients and Discriminant Variables of Depression and Suicide Ideation / 신경정신의학

OBJECTIVES: The purpose of this study was to compare psychological test profiles of psychiatric outpatients with high and low depression/suicide ideation and to identify predictor variables for depression/suicide ideation. METHODS: Component scores of the Personality Assessment Inventory (PAI) and Minnesota Multiphasic Personality Inventory-2 (MMPI-2) were compared using t-tests. Discriminant analysis was conducted for predictor variables of depression/suicide ideation. RESULTS: Regarding PAI profiles, somatic complaints (SOM), anxiety (ANX), anxiety-related disorder (ARD), depression (DEP), paranoia (PAR), borderline features (BOR), antisocial features (ANT), mania (MAN) drug problems (DRG) scores were significantly elevated in high depression and high suicide ideation groups. Concerning MMPI-2 profiles, the scores of hypochondriasis (Hs), depression (D), hysteria (Hy), psychopathic deviate (Pd), paranoia (Pa), psychasthenia (Pt), schizophrenia (Sc), social introversion (Si) were significantly elevated in these same groups. The PAI and MMPI-2 profile shapes were remarkably similar between high depression and high suicide ideation groups. Therefore, in terms of psychological profile, depression and suicidal ideation seemed to reflect the same construct. However, in discriminant analysis, significant predictors for depression were found to be Pt and D Sc from MMPI-2, while those for suicide ideation were found to be Pa and Sc, suggest subtle differences. CONCLUSION: The superficial characteristics of depression and suicide ideation groups reflected by the psychological test profiles seemed similar, but the determining factors may differ. Thus, the psychological interventions for these two groups may have to follow different routes considering these subtle differences.

Comparison on biomechanical stability between femtosecond laser assisted LASIK and LASEK with ocular response analyzer / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To compare the difference of biomechanical stability after a femtosecond laser-assisted <i>in situ</i> keratomileusis(FS-LASIK)and laser-assisted subepithelial keratomileusis(LASEK)by ocular response analyzer(ORA). <p>METHODS: This prospective study was conducted at the First Affiliated Hospital of Harbin Medical University, and myopic patients with the equivalent sphere between -2.00 and -5.00 diopters from January 2016 and December 2017 were enrolled. All the subjects were divided into FS-LASIK and LASEK group respectively according to different surgical methods. There were 64 patients(100 eyes)participated in the FS-LASIK group while 53 patients(100 eyes)in the LASEK surgery group. Corneal hysteresis value(CH)and corneal resistance factor value(CRF)were measured pre-, 1mo and 3mo postoperation of all the subjects. And the variance analysis of two groups was repeated to compare the overall difference between the two modes of operation from pre-operation to post operation. <p>RESULTS: The CH and CRF value of the two groups were different before and after operation(<i>P</i><0.05). The comparison results of repeated measurements showed that the CH value and CRF value of the surgical methods were reduced in 1 and 3mo after operation, respectively, and there was significance(<i>P</i><0.05). The CH and CRF of FS-LASIK group was lower than LASEK group only in 1mo after the operation(<i>P</i><0.05). <p>CONCLUSION: Both surgeries could affect the biomechanical stability of cornea. From the point of view of biomechanical stability, LASEK operation is safer than FS-LASIK operation and reduces the possibility of postoperative refractive regression.

A Case Study of a Machine-Learning Approach in Differential Diagnosis of Schizophrenia: The Predictive Capacity of WAIS-IV / 신경정신의학

OBJECTIVES: Machine learning (ML) encompasses a body of statistical approaches that can detect complex interaction patterns from multi-dimensional data. ML is gradually being adopted in medical science, for example, in treatment response prediction and diagnostic classification. Cognitive impairment is a prominent feature of schizophrenia, but is not routinely used in differential diagnosis. In this study, we investigated the predictive capacity of the Wechsler Adult Intelligence Scale IV (WAIS-IV) in differentiating schizophrenia from non-psychotic illnesses using the ML methodology. The purpose of this study was to illustrate the possibility of using ML as an aid in differential diagnosis. METHODS: The WAIS-IV test data for 434 psychiatric patients were curated from archived medical records. Using the final diagnoses based on DSM-IV as the target and the WAIS-IV scores as predictor variables, predictive diagnostic models were built using 1) linear 2) non-linear/non-parametric ML algorithms. The accuracy obtained was compared to that of the baseline model built without the WAIS-IV information. RESULTS: The performances of the various ML models were compared. The accuracy of the baseline model was 71.5%, but the best non-linear model showed an accuracy of 84.6%, which was significantly higher than that of non-informative random guessing (p=0.002). Overall, the models using the non-linear algorithms showed better accuracy than the linear ones. CONCLUSION: The high performance of the developed models demonstrated the predictive capacity of the WAIS-IV and justified the application of ML in psychiatric diagnosis. However, the practical application of ML models may need refinement and larger-scale data collection.

Advances in biodegradable functional polymers based protein drug delivery system / 中国药科大学学报

Biodegradable and biocompatible functional polymers show high potential as novel drug carriers in disease diagnosis and therapy.Recently,protein drugs have brought about major breakthroughs in the treatment of various diseases including cancer,while the development of carrier technology is relatively delayed.This article reviews recent advances in biodegradable functional polymers as protein drug nanocarriers.Additionally,we have discussed the perspective of developing new generations of biocompatible and functional polymers.

Analysis of PAX6 gene mutation in a family affected with congenital aniridia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China.</p><p><b>METHODS</b>Two patients were collected from the family and underwent full ophthalmologic examinations. Genomic DNA was extracted from all family numbers and 100 healthy controls. The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected to bidirectional DNA sequencing.</p><p><b>RESULTS</b>A nonsense mutation (c.718 C>T) was identified in exon 9 in both patients but not in other unaffected families or the 100 healthy controls. However, obvious difference was noted in the phenotype between the two patients. One of the patient has presented irregular cornea, which was infrequently reported.</p><p><b>CONCLUSION</b>A c.718C>T transitional mutation has been found to underlie the aniridia, which showed an autosomal dominant inheritance pattern in this northeastern Chinese family.</p>

Isoegomaketone Upregulates Heme Oxygenase-1 in RAW264.7 Cells via ROS/p38 MAPK/Nrf2 Pathway

Isoegomaketone (IK) was isolated from Perilla frutescens, which has been widely used as a food in Asian cuisine, and evaluated for its biological activity. We have already confirmed that IK induced the HO-1 expression via Nrf2 activation in RAW264.7 cells. In this study, we investigated the effect of IK on the mechanism of HO-1 expression. IK upregulated HO-1 mRNA and protein expression in a dose dependent manner. The level of HO-1 mRNA peaked at 4 h after 15 μM IK treatment. To investigate the mechanisms of HO-1 expression modulation by IK, we used pharmacological inhibitors for the protein kinase C (PKC) family, PI3K, and p38 MAPK. IK-induced HO-1 mRNA expression was only suppressed by SB203580, a specific inhibitor of p38 MAPK. ROS scavengers (N-acetyl-L-cysteine, NAC, and glutathione, GSH) also blocked the IK-induced ROS production and HO-1 expression. Furthermore, both NAC and SB203580 suppressed the IK-induced Nrf2 activation. In addition, ROS scavengers suppressed other oxidative enzymes such as catalase (CAT), glutathione S-transferase (GST), and NADH quinone oxidoreductase (NQO-1) in IK-treated RAW264.7 cells. Taken together, it can be concluded that IK induced the HO-1 expression through the ROS/p38 MAPK/ Nrf2 pathway in RAW264.7 cells.

Case series of keratitis in poultry abattoir workers induced by exposure to the ultraviolet disinfection lamp

BACKGROUND: An outbreak of eye diseases occurred among workers at a poultry abattoir in South Korea from December 2012 to June 2013. An epidemiological investigation of the causative agent was conducted. The workers were given a special health examination and workplace environmental monitoring was performed. Workers with ocular symptoms subsequently underwent an ophthalmic examination. CASE PRESENTAION: From a total of 41 workers, 26 (63.4 %) were diagnosed with keratoepitheliopathy by ophthalmic examination. Environmental monitoring of the workplace revealed that the ultraviolet (UV) apron-disinfection lamp had not been turning off at the set times, and so the workers’ faces had been exposed to UV radiation. Effective radiation dose measurement showed a UV-B exposure of 7-30 μW/cm2, and a UV-C exposure of 40-200 μW/cm2; both values exceed the occupational exposure limits. The outbreak ceased after the lamp was repaired. CONCLUSIONS: This case shows that inappropriate use of the UV disinfection lamp can cause mass photokeratitis. In order to prevent this, the UV disinfection lamp must be checked regularly, workers must be educated on the health effects of UV radiation, and appropriate eye protection must be worn.

Serum prostate-specific antigen levels and type of work in tire manufacturing workers

OBJECTIVES: This study measures serum prostate-specific antigen (PSA) levels in tire-manufacturing workers, and attempts to find occupational or non-occupational factors that related to their PSA levels. METHODS: A total of 1,958 healthy male workers (1,699 were production workers and 259 were office workers) took PSA measurement for analysis. RESULTS: After adjusting for age, body mass index, hypertension, regular exercise, alcohol drinking and smoking, which were significantly related to serum PSA levels or known related factors of serum PSA levels, the geometric mean PSA levels were significantly high in the office workers (p = 0.017), the older age group (p or =4.0 (OR 7.73, 95% CI: 2.78-21.46) or 2.5 ng/mL (OR 2.74, 95% CI: 1.49-5.08). After stratifying by age and adjusting aforementioned covariates, office workers 50 years of age and older had the significantly higher geometric mean PSA levels (p = 0.017) and were more likely to have a serum PSA level of > or =4.0 ng/mL (OR 12.90, 95% CI: 3.65-45.64) or 2.5 ng/mL (OR 3.90, 95% CI: 1.64-9.25) than production workers 50 years of age and older. CONCLUSIONS: This study showed that serum PSA levels were significantly higher among the group with hypertension or the group of individuals that did not exercise regularly or group of office workers who were considered to have lesser physical activities.

The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis / 소아과

PURPOSE: Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to improve the understanding of this mechanism by investigating the expression of calcium-activated potassium (KCa) channel genes in HOKPP patients. METHODS: We measured the intracellular calcium concentration with fura-2-acetoxymethyl ester in skeletal muscle cells of HOKPP patients and healthy individuals. We examined the mRNA and protein expression of KCa channel genes (KCNMA1, KCNN1, KCNN2, KCNN3, and KCNN4) in both cell types. RESULTS: Patient cells exhibited higher cytosolic calcium levels than normal cells. Quantitative reverse transcription polymerase chain reaction analysis showed that the mRNA levels of the KCa channel genes did not significantly differ between patient and normal cells. However, western blot analysis showed that protein levels of the KCNMA1 gene, which encodes KCa1.1 channels (also called big potassium channels), were significantly lower in the membrane fraction and higher in the cytosolic fraction of patient cells than normal cells. When patient cells were exposed to 50 mM potassium buffer, which was used to induce depolarization, the altered subcellular distribution of BK channels remained unchanged. CONCLUSION: These findings suggest a novel mechanism for the development of hypokalemia and paralysis in HOKPP and demonstrate a connection between disease-associated mutations in calcium/sodium channels and pathogenic changes in nonmutant potassium channels.

Prenatal genetic test and clinical guidance for 213 hereditary deaf families / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To summarize the workflow, strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice.</p><p><b>METHODS</b>There were 213 families who received prenatal test from 2005 to 2011. Among the 213 families, 205 families had had one deaf child, including 204 couples with normal hearing and one couple of the deaf husband and normal wife, 8 families including 6 couples with normal hearing and 2 deaf couples, had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood. The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2, SLC26A4 and mtDNA 12sRNA, but one family carried POU3F4 c.647G > A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study. The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks, and the following genetic information and counseling were supplied based on the results.</p><p><b>RESULTS</b>The recurrent risk was 25% in 209 families, including 204 families with one deaf child and 5 families without child, among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50% in 3 families, the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation, the wife had POU3F4 c.647G > A heterozygous mutation in another one family, and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100% in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations, and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank. 226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice, and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents. The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test.</p><p><b>CONCLUSIONS</b>Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition, and the normative workflow and precise strategy highly guarantee the safe and favorable implementation of prenatal diagnosis.</p>

Differential diagnosis of cervical radiculopathy and superior pulmonary sulcus tumor / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The result would be disastrous if the superior pulmonary sulcus tumor (Pancoast tumor) was misdiagnosed as degenerative cervical spine diseases. The aim of this study was to investigate the differential diagnosis methods of cervical radiculopathy and superior pulmonary sulcus tumor.</p><p><b>METHODS</b>Clinical manifestations, physical, and radiological findings of 10 patients, whose main complaints were radiating shoulder and arm pain and later were diagnosed with superior pulmonary sulcus tumor, were reviewed and compared with those of cervical radiculopathy.</p><p><b>RESULTS</b>Superior pulmonary sulcus tumor patients have shorter mean history and fewer complaints of neck pain or limitation of neck movement. Physical examination showed almost normal cervical spine range of motion. Spurling's neck compression test was negative in all patients. Anteroposterior cervical radiographs showed the lack of pulmonary air at the top of the affected lung in all cases and first rib encroachment in one case. The diagnosis of superior pulmonary sulcus tumor can be further confirmed by CT and MRI.</p><p><b>CONCLUSIONS</b>By the method of combination of history, physical examination, and radiological findings, superior pulmonary sulcus tumor can be efficiently differentiated from cervical radiculopathy. Normal motion range of the cervical spine, negative Spurling's neck compression test, and the lack of pulmonary air at the top of the affected lung in anteroposterior cervical radiographs should be considered as indications for further chest radiograph examinations.</p>

Efficacy of a Day-Center Treatment Program for Children with Developmental Disorders

OBJECTIVES: This study was conducted in order to evaluate the effectiveness of a day-center treatment program to promote development of children with pervasive development disorder (PDD) and pervasive development disorder/mental retardation (PDD/MR). METHODS: Twenty five children (14 in the PDD group and 11 in the PDD/MR group) participated in a day-center treatment program. They had been enrolled in the whole program for 2-3 years. Their performance was evaluated according to the Preschool Language Scale (PRES), Social Maturity Scale (SMS), and Korean version of the Childhood Autism Rating Scale (CARS). They were grouped by diagnosis at the beginning of the program and the treatment effect was compared. RESULTS: Children who participated in the day-center treatment program showed a significant increase in their PRES and SMS scores and a decrease in their CARS scores. CONCLUSIONS: A day-center treatment program is effective for development of children with PDD and PDD/MR.

Prenatal genetic counseling and instruction for deaf families by genetic test / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby.</p><p><b>METHODS</b>Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family.</p><p><b>RESULTS</b>Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation.</p><p><b>CONCLUSIONS</b>Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for family planning.</p>