OBJECTIVE: To carry out pathological and genetic analyses on a fetus with intrauterine growth restriction and death during second trimester after induced abortion. METHODS: A fetus undergone induced abortion due to intrauterine growth restriction and death during second trimester at the the Seventh Affiliated Hospital of Sun Yat-Sen University in 2024 was selected as the study subject. Clinical data of the pregnancy were collected. DNA was extracted from tissues from the aborted fetus and peripheral blood samples from its parents. Chromosomal microarray analysis and whole exome sequencing were carried out. Candidate variants were verified by Sanger sequencing. Following abortion, routine autopsy and pathological analysis were conducted. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: KY-2025-334-01). RESULTS: The aborted fetus was a male and harbored compound heterozygous nonsense variants of the TH gene (c.457C>T/p.Arg153* and c.694C>T/p.Gln232*), for which both parents were heterozygous carriers. Autopsy and pathological analysis revealed that the fetus had pathological features including loose arrangement of myocardial fibers and congestion in the liver. CONCLUSION Biallelic null variants of the TH gene may cause heart failure by affecting the development of cardiovascular system, which in turn may lead to intrauterine death. This study has provided new clues for the molecular diagnosis of stillbirth and recurrent pregnancy loss.
Humans ; Female ; Pregnancy ; Male ; Heterozygote ; Codon, Nonsense/genetics* ; Fetal Growth Retardation/pathology* ; Adult ; Stillbirth/genetics*

Objective To investigate the value of cough peak expiratory flow rate ( PEF) for the prediction of machine with-drawal in children with acute respiratory failure.Methods Eighty-five severe cases of acute respiratory failure in children were admit-ted into our hospital from September, 2010 to September, 2012, including 48 male and 37 female cases, with an age range of 2-6 years.In accordance with the necessity of endotracheal intubation 48 hours after removal of the ventilator, the patients were designated as the success group (71 cases) and the failure group (14 cases) .Differences in general clinical data, pulmonary function, blood-gas analysis results and PEF values before removal of the ventilator were compared between the 2 groups.The ROC curve was used to calcu-late Az value and evaluate the predicative value of PEF in the removal of the ventilator.Results With respect to the general medical data of the success and failure groups before removal of the ventilator, there was no statistical significance in age, gender, pediatric ill-ness scores, causes of illness, rate of lower respiratory tract infection and mechanical ventilation time, when comparisons were made be-tween the 2 groups(P>0.05).No statistical significance could be noted in respiratory rate (RR), heart rate (HR), tidal volume ( Vt) , minute ventilation( MV) , mean airway pressure( MAP) , pH value, PaO2 , PaCO2 and PaO2/FiO2 , before removal of the venti-lator, when comparisons were made between the 2 group(P>0.05).Before removal of the ventilator, PEF value of the success group was(46.3 ±8.2)L/min, which was significantly higher than that of the failure group(37.6 ±7.4)L/min, with statistical significance (P<0.05).Az value used to predict the results of ventilator removal was 0.890, and the optimal PEF value used for the prediction of ventilator removal was 40.6 L/min.Conclusion PEF value used for the prediction of ventilator removal was accurate to some extent
and could be used as a clinical evidence for ventilator removal.

Objective To investigate the value of cough peak expiratory flow rate ( PEF) for the prediction of machine with-drawal in children with acute respiratory failure.Methods Eighty-five severe cases of acute respiratory failure in children were admit-ted into our hospital from September, 2010 to September, 2012, including 48 male and 37 female cases, with an age range of 2-6 years.In accordance with the necessity of endotracheal intubation 48 hours after removal of the ventilator, the patients were designated as the success group (71 cases) and the failure group (14 cases) .Differences in general clinical data, pulmonary function, blood-gas analysis results and PEF values before removal of the ventilator were compared between the 2 groups.The ROC curve was used to calcu-late Az value and evaluate the predicative value of PEF in the removal of the ventilator.Results With respect to the general medical data of the success and failure groups before removal of the ventilator, there was no statistical significance in age, gender, pediatric ill-ness scores, causes of illness, rate of lower respiratory tract infection and mechanical ventilation time, when comparisons were made be-tween the 2 groups(P>0.05).No statistical significance could be noted in respiratory rate (RR), heart rate (HR), tidal volume ( Vt) , minute ventilation( MV) , mean airway pressure( MAP) , pH value, PaO2 , PaCO2 and PaO2/FiO2 , before removal of the venti-lator, when comparisons were made between the 2 group(P>0.05).Before removal of the ventilator, PEF value of the success group was(46.3 ±8.2)L/min, which was significantly higher than that of the failure group(37.6 ±7.4)L/min, with statistical significance (P<0.05).Az value used to predict the results of ventilator removal was 0.890, and the optimal PEF value used for the prediction of ventilator removal was 40.6 L/min.Conclusion PEF value used for the prediction of ventilator removal was accurate to some extent
and could be used as a clinical evidence for ventilator removal.