Objective To assess the effect of two-dimensional speckle tracking imaging (STI) on prognosis of patients with acute infarcted myocardial(AMI).Methods Eighty patients with AMI and 30 healthy subjects were selected as our subjects.Among the AMI patients,there was 30 cases were emergency percutaneous coronary intervention (PCI),25 cases were selective PCI group and 25 cases with conservative.All were performed a 4-6 months following up after discharge from hospital.Left ventricular ejection fraction(LVEF) was measured by Simpson's.Rotation were measured in the left ventricular basal and apical short-axis views using STI.LV Peak twist (Ptw),apical Peak rotation (PAR),the basal Peak rotation (PBR),twist at aortic valve closure(AVC tw),twist at mitral valve opening(MVO tw),untwisting rate (Untw R),and half time of untwisting (HTU) were calculated.And the correlation between Ptw and LVEF was analyzed.Results Compared with the control group,the value of Ptw,PAR,AVC tw and MVO tw were significantly decreased in myocardial infarction group(F =22.481,12.899,18.923 ;P ＜ 0.05).Ptw,PAR in emergency PCI group at following up periods were (18.61 ± 8.08) ° and (12.16 ± 6.98) °,higher than that in hospital periods ((13.76 ± 6.31) °,(7.03 ±5.76)°).Ptw,PAR in selecting PCI group were (19.5 ±7.73)° and (13.4 ±7.02)°,higher than that in hospital periods((15.25 ± 6.83) °,(9.69 ±.6.72) ° ; t =-2.607,-3.104,-2.079,-1.955 ; P ＜ 0.05).Significant correlation was found between Ptw and LVEF (r =0.527,P ＜ 0.05).Conclusion Left ventricular twist can be measured using STI.LV rotation can be the quantitative index to evaluate the systolic function of LV.STI can be the new method to guide clinic diagnosis and therapy.

OBJECTIVE: To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS). METHODS: Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing. RESULTS: The child was found to harbor a heterozygous splice site variant, c.6109-1G>A, of the NIPBL gene. Sanger sequencing suggested that neither parent has carried the same variant, suggesting that it was de novo. The variant was unreported by HGMD and ExAC database, and was predicted to alter an acceptor splicing site. No pathogenic variants of SMC1A, SMC3, RAD21 and HDAC8 genes were detected. CONCLUSION The heterozygous c.6109-1G>A splicing variant of the NIPBL gene may underlie the disease in this child. Above finding has expanded the variant spectrum of the NIPBL gene.
Cell Cycle Proteins ; genetics ; De Lange Syndrome ; genetics ; Genetic Testing ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Mutation ; Phenotype

Objective:To observe the effects of bilateral thoracic paravertebral block (TPVB) on left ventricular myocardial work using pressure-strain loop(PSL) in patients before off-pump coronary artery bypass graft(OPCABG).Methods:A total of 24 patients with coronary heart disease undergoing selective OPCABG were recruited in the First Affiliated Hospital of Nanjing Medical University from May to August 2021. All patients underwent ultrasound-guided TPVB preoperatively. Left ventricular global work, including global longitudinal strain(GLS), global work index(GWI), global constructive work(GCW), global waste work(GWW), global work efficiency(GWE), and regional work, including myocardial work index(MWI), myocardial work efficiency(MWE) were observed before TPVB and 20 minutes after TPVB.Results:The parameters of heart rate and left ventricular outflow tract blood flow were decreased [(69.13±10.72)bpm vs (65.46±9.66)bpm, P=0.010; (13.86±2.83)ml vs (12.72±2.60)ml, P=0.017]. The MWI in regional segments of hypokinesis and akinesis were significantly improved [hypokinesis: (1 175.76±206.64)mmHg% vs (1 349.38±462.35)mmHg%, P=0.004; akinesis: (684.94±251.39)mmHg% vs (965.35±384.33)mmHg%, P=0.001] and the MWE in regional segments of hypokinesis and akinesis were improved [hypokinesis: (87.79±7.46)% vs (90.35±6.39)%, P=0.029; akinesis: (70.24±18.03)% vs (80.15±16.65)%, P=0.021]. There were no significant changes in MWI, MWE, LVEF, GLS, GWI, GCW, GWW and GWE(all P>0.05). Conclusions:Based on PSL, the changes of left ventricular work in patients with OPCABG before and after TPVB show that TPVB can improve the blood supply of the ischemic myocardium, which provides a reliable basis for optimizing the perioperative anesthesia management.

Objective:To summarize the clinical and genetic characteristics in patients with transthyretin familial amyloid polyneuropathy (TTR-FAP).Methods:Fourteen unrelated TTR-FAP patients diagnosed at Xuanwu Hospital, Capital Medical University from September 2014 to February 2022 were retrospectively reviewed. The clinical manifestation, electrophysiology, cardiac function, biopsy and gene mutation were analyzed.Results:In the 14 patients (13 males, 1 female) diagnosed as TTR-FAP, the mean age at onset was 53.9 years (range: 33.0-71.0 years), with a mean course from symptom-onset to diagnosis of 4.1 years. The late-onset type occurred in 9 cases. Seven patients had a family history of TTR-FAP. Distal paresthesia of lower limbs was the commonest initial symptom (8 cases), with sensorimotor neuropathy and autonomic dysfunction seen initially in 4 and 2 cases, respectively. Cardiac involvement occurred in 6/8 of the patients. Nerve conduction studies indicated extremely axonal impairment with demyelinating features. Sural nerve biopsies showed moderate to severe axonal loss of myelinated fibers and the positive rate of Congo red staining was 8/14. Of 8 different TTR mutations detected, V50M was the most common (appearing in 5 cases). No obvious neuropathy progression was seen in the 5 patients who received tafamidis and 2 patients died of dyscrasia. Conclusions:TTR-FAP is more common in males, with sensorimotor axonal polyneuropathy, autonomic dysfunction and cardiac subclinical damage as the predominant symptoms. V50M is the commonest mutation. Tafamidis can delay the progression of disability.

ObjectiveTo establish and evaluate a chronic obstructive pulmonary disease （COPD） model with lung-spleen qi deficiency. MethodA rat model mimicking COPD with lung-spleen qi deficiency was established by the combination of cigarette smoking and intratracheal instillation of lipopolysaccharide （LPS） along with gavage of Sennae Folium infusion. Forty male SPF-grade SD rats were randomly assigned to blank， model， and low- （L-FXY）， medium- （M-FXY）， and high-dose （H-FXY） Sennae Folium infusion groups. Other groups except the blank group were exposed to daily cigarette smoke， with LPS administrated via intratracheal instillation on the 1st and 14th days. On the 28th day of modeling， the L-FXY， M-FXY， and H-FXY groups were administrated with Sennae Folium infusion at 5， 10， and 20 g·kg^-1， respectively， and at 4 ℃ for three weeks. The modeling lasted for 49 days. The general conditions （body mass， food intake， fecal water content， and anal temperature） and behaviors （grip strength test and tail suspension test） of rats in different groups were examined. The lung function， lung histopathology， D-xylose， amylase， and gastrin levels in the serum， interleukin（IL）-1β and IL-6 levels in the alveolar lavage fluid， levels of T-lymphocyte subsets （CD4⁺， CD8⁺， and CD4⁺/CD8⁺） in the peripheral blood， and thymus and spleen indices were measured. ResultTwo rats died in the H-FXY group. Compared with the blank group， both the M-FXY and H-FXY groups exhibited reduced body mass and food intake （P<0.01） and increased fecal water content （P<0.01）. The anal temperature in the H-FXY group was lower than that in the blank group （P<0.01）. The grip strength decreased in the modeling groups compared with the blank group （P<0.01）， and the duration of immobility in the tail suspension test increased in the M-FXY and H-FXY groups （P<0.05， P<0.01）. Compared with the blank group， the modeling groups showed reduced 0.3 second forced expiratory volume （FEV_0.3）， FEV_0.3/forced vital capacity （FVC）（P<0.01）， thickening of bronchial walls， proliferation of goblet cells， and the presence of emphysematous changes. In terms of gastrointestinal function， the M-FXY and H-FXY groups had lower levels of D-xylose， gastrin， and α-amylase than the blank group （P<0.01）. Regarding the immune and inflammatory indices， the M-FXY and H-FXY groups showed lower thymus and spleen indices than the blank group （P<0.01）. Compared with the blank group， the modeling groups presented lowered CD4⁺ level （P<0.01） and CD4⁺/CD8⁺ ratio （P<0.05， P<0.01） in the peripheral blood and elevated levels of IL-1β and IL-6 in the alveolar lavage fluid （P<0.01） than the blank group. ConclusionA model of COPD with lung-spleen Qi deficiency was established through the combination of daily cigarette smoke， intratracheal instillation with LPS， and gavage of Sennae Folium infusion. The comprehensive evaluation results suggested medium-dose （10 g·kg^-1） Sennae Folium infusion for gavage during the modeling of COPD with lung-spleen Qi deficiency.