OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a fetus with 17q12 microdeletion syndrome. METHODS: A fetus with 17q12 microdeletion syndrome who was diagnosed at Huzhou Maternal & Child Health Care Hospital in June 2020 was selected as the study subject. Clinical data of the fetus was collected. The fetus was subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). To determine the origin of fetal chromosomal abnormality, its parents were also subjected to CMA assay. The postnatal phenotype of the fetus was also investigated. RESULTS: Prenatal ultrasound revealed polyhydramnios and fetal renal dysplasia. The fetus was found to have a normal chromosomal karyotype. CMA has detected a 1.9 Mb deletion in the 17q12 region, which has encompassed five OMIM genes including HNF1B, ACACA, ZNHIT3, CCL3L1 and PIGW. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the 17q12 microdeletion was predicted as pathogenic copy number variation (CNV). CMA analysis has detected no pathogenic CNV in both parents. After birth, the child was found to have renal cysts and abnormal brain structure. Combined with the prenatal findings, the child was diagnosed with 17q12 microdeletion syndrome. CONCLUSION The fetus has 17q12 microdeletion syndrome presenting as abnormalities of the kidney and central nervous system, which are strongly correlated with functional defects of the deletion region involving the HNF1B and other pathogenic genes.
Female ; Pregnancy ; Humans ; Chromosome Deletion ; DNA Copy Number Variations ; Chromosome Disorders/genetics* ; Kidney ; Fetus ; Microarray Analysis ; Prenatal Diagnosis

Objective:To analyze the clinical phenotype and genetic basis for a child featuring familial short stature.Methods:A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The child, a 1-year-old male, had manifested with slightly short stature ( Z = -2.03), midfacial dysplasia, and multiple skeletal dysplasia such as pectus carinatum, irregular vertebral morphology, and defect of lumbar anterior bones. His mother, maternal grandmother and great-maternal grandfather also had short stature. WES revealed that the child has harbored a heterozygous c. 2858dupA (p.Asp953GlufsTer476) frameshifting variant of the ACAN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2858dup (p.Sp953Glufster476) variant was classified as likely pathogenic (PVS1+ PM2_Supporting). The patient has shown marked improved height after receiving 11 months of treatment with human recombinant growth hormone (supplemental dose) starting from 20 months of age. Conclusion:The ACAN: c. 2858dup (p.Asp953GlufsTer476) variant probably underlay the pathogenesis of short stature in this child.

Objective To investigate the effect of erector spinae plane block on ultrasound-based hemodynamic parameters of the arteries of the four limbs and biochemical stress indicators in patients with thoracoscopic lobectomy.Methods A total of 120 patients with thoracoscopic lobectomy were randomly divided into study group and control group,with 60 cases in each group.The study group re-ceived erector spinae plane block during surgery,while the control group received conventional anes-thesia measures.Pulmonary function indicators[peak expiratory flow rate(PEFR),forced vital ca-pacity(FVC),forced expiratory volume in the first second(FEV1)],ultrasound-based hemodynamic parameters of the arteries of the four limbs(maximum systolic velocity,minimum diastolic velocity,mean velocity,arterial pulsatility index,and arterial resistance index),stress indicators[cortisol(Cor),norepinephrine(NE),angiotensin Ⅱ(Ang Ⅱ),and adrenocorticotropic hormone(ACTH)],and analgesic effect were compared between the two groups at different time points[before an-esthesia induction(T0),after extubation(T1),and after drainage tube removal(T2)].Results FEV1,FVC and PEFR in both groups were significantly lower at T,and T,than at T0,and FEV1,FVC and PEFR in the study group were significantly higher than those in the control group at T,and T2(P＜0.05).The maximum systolic velocity and arterial resistance index in both groups were significantly lower at T1 and T2 than at T0,while the minimum diastolic velocity,mean velocity and arterial pulsatility in-dex were significantly higher at T1 and T2 than at T0(P＜0.05).The maximum systolic velocity and arterial resistance index in the study group were significantly higher than those in the control group at T1 and T2,but the minimum diastolic velocity,mean velocity and arterial pulsatility index were sig-nificantly lower than those in the control group(P＜0.05).Cor,ACTH,Ang Ⅱ and NE in both groups were significantly higher at T2 than at T0,and Cor,ACTH,Ang Ⅱ and NE in the study group were significantly lower than those in the control group at T2(P＜0.05).The Prince-Henry pain score,effective compression times,and actual compression times in the study group were sig-nificantly lower than those in the control group(P＜0.05).Conclusion Application of erector spinae plane block in thoracoscopic lobectomy causes smaller fluctuations in hemodynamic parame-ters of the arteries of four limbs and biochemical stress indicators,with a better anesthetic effect.

Objective To investigate the effect of erector spinae plane block on ultrasound-based hemodynamic parameters of the arteries of the four limbs and biochemical stress indicators in patients with thoracoscopic lobectomy.Methods A total of 120 patients with thoracoscopic lobectomy were randomly divided into study group and control group,with 60 cases in each group.The study group re-ceived erector spinae plane block during surgery,while the control group received conventional anes-thesia measures.Pulmonary function indicators[peak expiratory flow rate(PEFR),forced vital ca-pacity(FVC),forced expiratory volume in the first second(FEV1)],ultrasound-based hemodynamic parameters of the arteries of the four limbs(maximum systolic velocity,minimum diastolic velocity,mean velocity,arterial pulsatility index,and arterial resistance index),stress indicators[cortisol(Cor),norepinephrine(NE),angiotensin Ⅱ(Ang Ⅱ),and adrenocorticotropic hormone(ACTH)],and analgesic effect were compared between the two groups at different time points[before an-esthesia induction(T0),after extubation(T1),and after drainage tube removal(T2)].Results FEV1,FVC and PEFR in both groups were significantly lower at T,and T,than at T0,and FEV1,FVC and PEFR in the study group were significantly higher than those in the control group at T,and T2(P＜0.05).The maximum systolic velocity and arterial resistance index in both groups were significantly lower at T1 and T2 than at T0,while the minimum diastolic velocity,mean velocity and arterial pulsatility in-dex were significantly higher at T1 and T2 than at T0(P＜0.05).The maximum systolic velocity and arterial resistance index in the study group were significantly higher than those in the control group at T1 and T2,but the minimum diastolic velocity,mean velocity and arterial pulsatility index were sig-nificantly lower than those in the control group(P＜0.05).Cor,ACTH,Ang Ⅱ and NE in both groups were significantly higher at T2 than at T0,and Cor,ACTH,Ang Ⅱ and NE in the study group were significantly lower than those in the control group at T2(P＜0.05).The Prince-Henry pain score,effective compression times,and actual compression times in the study group were sig-nificantly lower than those in the control group(P＜0.05).Conclusion Application of erector spinae plane block in thoracoscopic lobectomy causes smaller fluctuations in hemodynamic parame-ters of the arteries of four limbs and biochemical stress indicators,with a better anesthetic effect.

Objective:To compare and choose the best method for measuring metabolic tumor volume (MTV) of nasal extranodal natural killer/T-cell lymphoma (ENKTL), evaluate the prognostic value of 18F-FDG PET/CT metabolic parameters and clinical staging/scoring systems for patients with nasal ENKTL, and explore the added value of the two combinations for prognostic prediction. Methods:From January 2016 to September 2022, 44 patients (26 males, 18 females; age (47.5±13.6) years) pathologically diagnosed with nasal ENKTL who underwent 18F-FDG PET/CT imaging before treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology were retrospectively collected. SUV 2.5, SUV 4.0 and 41%SUV max were used as thresholds to measure MTV and total lesion glycolysis (TLG), and the consistency was analyzed by Bland-Altman analysis. The ROC curve analysis was used to compare the prognostic efficiency of different methods and determine the best method. The prognostic values of different clinical factors and clinical staging/scoring systems between groups were evaluated by corrected χ2 test. The independent factors were screened by Cox-regression model, and the combined diagnosis model was constructed by logistic regression. Results:Of 44 patients, 6(13.6%) were dead, with the overall survival (OS) of 32.05(11.77, 64.43) months, and the 2-year and 5-year OS rates of 86.6% and 82.5%, respectively. The mortality of different groups in age (≥60 and <60 years), prognostic index of natural killer cell lymphoma (PINK) score (low- and high-risk), and international prognostic index (IPI) score (low- and high-risk) were significantly different ( χ2 values: 5.02, 4.12, 3.88, all P<0.05). The consistency of MTV measured by different thresholds was good. Among them, the MTV measured by threshold of SUV 2.5 had the highest predictive efficiency with the AUC of 0.737. Multivariate analysis showed that MTV (hazard ratio ( HR)=10.488, 95% CI: 1.864-59.026, P=0.008) was the independent influencing factor of OS. By removing other factors, minimization model was obtained, including MTV and PINK score ( P values: 0.006, 0.048). The prediction model of MTV combined with PINK score improved prognostic efficacy with the AUCs of MTV, PINK score and the combination model of 0.781, 0.741 and 0.912, respectively. Conclusions:MTV measured by threshold of SUV 2.5 has better prognostic predictive value. MTV is the independent prognostic factor for OS in nasal ENKTL patients. MTV combined with PINK score has better prognostic value.