OBJECTIVE: To block the transmission of Cranio-facial-nasal syndrome (CFNS) caused by a large deletion of the EFNB1 gene through preimplantation genetic testing for monogenic disorders (PGT-M). METHODS: A patient with craniofacial deformities and his parents who had visited Shiyan People's Hospital in June 2020 were selected as the study subjects. The child underwent whole exome sequencing (WES) and qPCR validation. After genetic counseling, PGT-M was chosen for the reproductive blockage. This study was approved by the Ethics Committee of the Hospital (Ethics No.: sysrmyy-087). RESULTS: The child was diagnosed with CFNS due to a heterozygous deletion of exons 1-5 of the EFNB1 gene through WES and qPCR, which showed a X-linked dominant inheritance. The mother underwent ovarian stimulation with a modified PPOS protocol, which has yielded 11 oocytes. After ICSI fertilization, 4 blastocysts were formed, and MALBAC whole genome amplification was performed on the trophoblast biopsy cells, and SNP haplotypes of the family members and embryos were analyzed to indirectly determine the presence of maternal pathogenic haplotypes. Chromosomal copy number variation analysis was conducted through next-generation sequencing to screen for euploid embryos, resulting in the identification of two euploid embryos that did not carry the mutation of the EFNB1 gene. The first transfer was unsuccessful, but after adjusting the transfer timing through endometrial receptivity assessment (ERA), clinical pregnancy was achieved. Prenatal diagnosis at 19 weeks excluded the EFNB1 gene exons 1-5 deletion in the fetus. A healthy girl was delivered by Cesarean section at 38⁺⁶ weeks, and Q-PCR confirmed she has no aforementioned EFNB1 gene deletion. CONCLUSION This study has successfully blocked the transmission of CFNS caused by a large deletion of the EFNB1 gene (exons 1-5) using a PGT-M strategy, which may provide reference for the intervention of similar genomic variations that cannot be directly detected.
Humans ; Female ; Male ; Craniofacial Abnormalities/diagnosis* ; Ephrin-B1/genetics* ; Polymorphism, Single Nucleotide/genetics* ; Preimplantation Diagnosis/methods* ; Pedigree ; Asian People/genetics* ; Craniosynostoses/genetics* ; Pregnancy ; Gene Deletion ; Sequence Deletion ; Genetic Testing/methods* ; Adult ; East Asian People

Objective To investigate the protective and treatment role of ulinastatin(UTI)on con-trast-induced acute kidney injury(CIAKI)in the elderly with coronary heart disease(CHD)and chronic kidney diseases(CKD).Methods A total of 321 elderly CHD inpatients complicated with CKD undergoing coronary angiography admitted in the First Medical Center of Chinese PLA Gen-eral Hospital from November 2021 to November 2022 were enrolled consecutively and then divid-ed into UTI group(n=161)and hydration group(n=160).Their cardiac and renal function pa-rameters were collected and analyzed before and 2 d after intervention.The changes in above pa-rameters and incidence of CIAK were observed and compared between the two groups.Results In 2 d after intervention,the UTI group had significantly lower Scr,urea,CysC,homocysteine and NT-proBNP,but higher eGFR than the hydration group(P＜0.01).There were 62 patients(62/321,19.3％)developing CIAKI,including 17 from the UTI group and 45 from the hydration group,and statistical difference was observed in the incidence(10.6％vs 28.1％,P＜0.01).For the patients with comorbidities of hypertension,diabetes,hyperlipidemia and hyperuricemia,the incidence of CIAKI was obviously lower in the UTI group than the hydration group(P＜0.01).Multivariate logistic regression analysis showed that UTI was an independent protective factor for occurrence of CIAKI(OR=0.348,95％CI:0.180-0.673,P=0.001).Conclusion UTI can im-prove renal function and reduce the risk of CIAKI in elderly CHD patients with CKD.

Objective To explore the possibility of rhabdomyolysis and related organ damage in new recruits training in high temperature and high humidity environment by comparing the effects of different training environments on the laboratory indicators and electrocardiogram.Methods A total of 250 new recruits from a unit in Beijing and another 250 ones from a unit in Hainan were recruited and assigned into conventional environment group and high temperature and high humidity environment group,respectively.All of them were male,with an average age of 21.36±2.59 years.Before and in 4 weeks after training in the same subjects,their general information,blood and urine indicators,and electrocardiogram were collected.All data were statistically analyzed.Results The incidences of inflammatory reaction,myocardial injury,muscle injury,liver injury,and kidney injury were 45.76％,3.39％,12.71％,25.42％,and 12.71％,respectively,in the high temperature and high humidity environment group,which were all significantly higher than those in the conventional environment group(P＜0.05).The former group had an incidence rate of 6.78％,5.93％,8.47％,6.78％,and 2.54％,respectively,in sinus bradycardia,atrial premature beats,unspecific ST-T changes,left ventricular hypertension and short PR interval,and all of the rates were higher than those of the conventional environment group(P＜0.05).Conclusion The incidences of inflammatory reaction,myocardial injury,muscle injury,liver injury,kidney injury,and ECG abnormalities are more common in new recruits after military training in high temperature and high humidity environment.

OBJECTIVE: To analyze the judgement standard and evaluate the diagnostic value of the low frequency and high frequency tympanometry in infants with otitis media. METHOD: Tympanograms for admittance with 226 Hz and 1 000 Hz probe tones and resonant frequency were obtained from normal infants (195 cases, 321 ears) and infants with otitis media(122 cases, 171 ears). The mean, standard deviation, median, 5% quantile, 95% quantile and 95% confidence interval of peak admittance, gradient and resonant frequency were measured and calculated in different age groups. The significant differences of 1000 Hz peak admittance, 226 Hz peak admittance and gradient between normal infants and infants with otitis median were analyzed using SPSS 11.0. The false positive rate and the false negative rate of different age groups in infants with otitis media were evaluated according to such judgement standards as 1000 Hz peak admittance, 226Hz peak admittance or gradient. RESULT: The false positive rate and the false negative rate of the 1000 Hz probe tone tympanometry in infants with otitis media unter one year of age were 3.07% and 1.84% as the normal range of positive peak was more than 0.2 mmho. The false positive rate and the false negative rate of the 1000 Hz probe tone tympanometry in infants with otitis media aged 1-2 years and aged 2-3 years were 3.26%, 5.26% and 1.52%, 0.00% respectively,as the normal range of positive peak was more than 0.3 mmho. These was no significant difference in the gradient with 226 Hz probe tone between normal infants and infants with otitis median under one year of age. The false positive rate and the false negative rate of the 226 Hz probe tone tympanometry in infants with otitis media aged 1-2 years and aged 2-3 years were 44.57%, 31.58% and 16.67%, 6.67% respectively, as the gradient with 226 Hz probe tone was a judgement standard. CONCLUSION (1) The diagnostic accuracy of tympanometry with 1000 Hz probe tone for otitis media in infants younger than 3 years of age exceeded 226 Hz probe tone tympanometry, the 1000 Hz probe tone tympanometry is suggested to the evaluation of middle ear function in infants before 3 years. (2) It is reasonable that the normal range of positive peak is more than 0.2 mmho in infants unter one year of age and the normal range of positive peak is more than 0.3 mmho in infants aged 1-3 years.
Acoustic Impedance Tests ; methods ; statistics & numerical data ; Case-Control Studies ; Humans ; Infant ; Infant, Newborn ; Otitis Media ; diagnosis ; Reference Values