Deafness Gene Screening and AABR in Children Hearing Loss Diagnose / 听力学及言语疾病杂志

Objective The aim of this study was to find out the carrying rate and the type of mutation of children deafness gene and discuss the significance of combined screening of deafness gene and hearing screening.Methods From October 2015 to December 2016,a total of 505 children from primary screening institutions were done with AABR hearing re-screening and deafness gene through blood filter paper by heel for gene sequencing at the hearing screening clinic of Hefei Maternal and Child Health Hospital.The 9 mutation sites of deafness genes included GJB2 (235delC,299delAT,176del16,35delG),GJB3 (538C＞T),SLC26A4 (IVS7-2A＞G,2168A＞G) and mitochondrial 12SrRNA (1555A＞G,1494C＞T).Results There were 69 children with deafness susceptibility genes in 505 cases and its overall carrying rate was 13.7％.There were 56 cases (81.16％)with GJB2 gene mutations,10 cases (14.49％) with SLC26A4 gene mutations,and 3 patients (4.35％) with mitochondrial 12SrRNA gene mutations.GJB3 gene mutations wer not detected.There were 376 who failed AABR rescreening out of 505.The total failure rate for AABR rescreening was 74.46％.Thirty-seven cases were examined with ABR out of 69 cases with deafness gene abnormal.32 cases (86.49％) had different degrees of hearing impairment.Conclusion GJB2 gene mutation was the highest carrying rate of deafness genes in this region,followed by SLC26A4 gene,less mitochondrial 12SrRNA gene mutations while GJB3 gene mutations was not detected.Hereditary deafness gene screening was a valid supplement for physical screening,the combination of both methods was helpful for early detection and intervention of deaf children.

Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

Abstract Introduction: Preterm infants (<37 weeks of gestation) have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH) in the program congenital hypothyroidism (CH) newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Distrital screening protocol for CH (blood sample is collected from the umbilical cord in all the newborns) remeasured the serum TSH and heel TSH when preterm infants completed 37 weeks of gestation. Results: A total of 59 preterm neonates were rescreened, of which 2 neonates had elevated levels of TSH and 1 neonate had transient hypothyroxinemia. The Kolmogorov-Smirnov 2-sample/bilateral statistical test was used to compare the neonatal TSH levels of preterm and full-term newborns, which do not follow the same distribution. Conclusion: In our pilot study, 2 of the rescreened infants presented high levels of TSH and 1 had transient hyperthyrotropinemia, suggesting the need for rescreening of preterm infants. Additionally, a larger study should be performed to determine the screening cutoff values for preterm newborns.

Evaluation of 100% rapid rescreening of cervical smears.

Advantage of rapid rescreening (RR) over conventional 10% random rescreening of all negative smears has been the topic of debate. RR of negative smears by cytopathologists/cytotechnologists have yielded good results. We undertook the rapid review of all the reported cervical smears to study its results as a means of strict quality control exercise on 2,500 smears.

Factors associated with Receiving Rescreening in High Risk Group Diagnosed by Endoscopic Screening of Stomach Cancer

BACKGROUND: Stomach cancer is the most common cancer in Korea. Lifelong health management program recommends that males over 40 years and women over 50 years should undergo stomach cancer screening by endoscopy or upper gastrointestinal series every two years. The importance of re-screening of stomach cancer in a high risk group is emphasized. METHODS: A telephone questionnaire was done one year after to 123 patients over 40 years old considered as a high risk group with either chronic atropic gastritis, intestinal metaplasia, gastric ulcer, gastric adenoma among 804 subjects who had undergone anendoscopic examination from February 2002 to June 2003 at a university hospital health promotion center. RESULTS: The number of patients who responded were 109. The average recognition rate of high risk group was 53.2%. The rate of recognition of high risk group was lower in good subjective health estimation group and in less educated group, in old age group, and in chronic atrophic gastritis and intestinal metaplasia group. The rate of not receiving re-screening after 1 year was 48 (44.0%). Re-screening rate in patients with intestinal metaplasia (35.3%) and chronic atropic gastritis (39.1%) compared to gastric ulcer (77.8%) and gastric polyp (90.0%), in those not recognizing themselves as high risk group, in low education group, in old age, was lower. CONCLUSION: In patients with chronic atropic gastritis and intestinal metaplasia, in those not recognizing themselves as high risk group, in old age and in good subjective health state. We need to educate the importance for regular screening of stomach cancer more intensively.

Quality Improvement Methods in Cervico-vaginal Cytology: Cytologic/Histologic Correlation vs. 10% Random Rescreening / 대한세포병리학회지

Although the success of the Papanicolaou test as a screening tool of cervical cancer is evident, there still exists 2-5% of discrepancy rate by both human and machine. To improve the qualilty of cervico-vaginal cytology, the authors compared cervicovaginal smear with cervical biopsy diagnoses, and analysed the causes of discrepancies. Among 30,922 cervicovaginal smears from June 1996 to April 1997 at our hospital, there were 271 cases of cervicovaginal smear with subsequent cervical punch or LEEP cone biopsies within several months. The biopsies and smears from a total of 98 discordant cases were reviewed. The discrepancy was attributed to sampling errors in 43 cases(43.9%), and to cytologic diagnosis in 49 cases(50.0%). Among these, 43 cases were interpretative errors(categories A;19, B;16 and C;8), whereas six cases were screening errors(categories B;2 and C;4). Among cervical biopsy cases, errors were present in four. As for 10% random rescreening, cytote chnologists reviewed 3,196 of 30,922 smears during the same period. There were 43 cases of screening error(categories A;27, B;16). Cytologic/histologic correlation was superior to 10% random rescreening of negative cases. The most effective method for quality improvement in cervicovaginal cytology was to implement both quality control(rescreening) and quality assurance(cytologic/histologic correlation) programs.