Objective:To investigate the perinatal prognosis and its impact factors for premature infants with twin-twin transfusion syndrome (TTTS) who were born at ≤34 weeks of gestation.Methods:A retrospective study was conducted on 68 pregnancies of TTTS with gestational age ≤34 weeks at delivery, among them 106 preterm infants (TTTS group) were admitted to the neonatal intensive care unit of the First Affiliated Hospital, Sun Yat-sen University from January 2003 to February 2019. During the same period, another 178 twins without TTTS, congenital malformation, and intrauterine intervention who matched the TTTS group in maternal age (differences within two years) and gestational age (differences within one week) were assigned as non-TTTS group. Perinatal prognosis of TTTS infants born at ≤34 weeks was analyzed by comparing the differences in postnatal early complications and perinatal outcomes (survival time morn than 28 days or not) between the TTTS and non-TTTS groups, recipient and donor twins, mild and severe TTTS infants, and among TTTS infants with different intrauterine interventions. The risk factors for perinatal survival in TTTS infants with gestational age ≤34 weeks were analyzed. Two independent samples t-test, one-way analysis of variance, rank-sum test, Chi-square test, and ordered logistic regression were used for statistical analysis. Results:(1) Among the 68 pregnancies, the overall perinatal survival rate of the neonates was 72.1% (98/136), the double-twin survival rate was 48.5% (33/68), and the rate of at least one survivor was 95.6% (65/68). (2) In the TTTS group, 62 were recipients and 44 were donors. Stage Ⅰ-Ⅱ TTTS was found in 41 cases (mild TTTS group) and stage Ⅲ-Ⅴ in 65 cases (severe TTTS group). (3) The rate of severe brain injury was higher in the severe-TTTS group than those in the mild-TTTS group [9.2% (6/65) vs. 0.0% (0/41), χ 2=4.01, P=0.045]. (4) Gestational age ≤28 weeks ( OR=101.90, 95% CI: 5.07-2 048.37), stage Ⅳ ( OR=14.04, 95% CI: 1.56-126.32) and stage Ⅴ TTTS ( OR=51.09, 95% CI: 3.58-728.81) were independent risk factors for death within 28 days (all P<0.05). (5) Compared with the non-TTTS group, the TTTS group had higher rates of neonatal anemia [51.9% (55/106) vs. 33.1% (59/178), χ 2=9.71], polycythemia [5.7% (6/106) vs. 0.6% (1/178), χ 2=7.18], neonatal persistent pulmonary hypertension [3.8% (4/106) vs. 0.0% (0/178), χ 2=6.81], sepsis [15.1% (16/106) vs. 7.3% (13/178), χ 2=4.40], state Ⅲ or higher retinopathy of prematurity [3.8% (4/106) vs. 0.0% (0/178), χ 2=6.81], congenital cardiac structural abnormality [19.8% (21/106) vs. 0.6% (1/178), χ 2=33.45], heart failure [8.5% (9/106) vs. 0.6% (1/178), χ 2=12.29], and renal insufficiency [14.2% (15/106) vs. 1.1% (2/178), χ 2=20.04] (all P<0.05). Conclusions:Compared with the twin premature infants without TTTS, those with TTTS and ≤34 gestational age were more likely to have cardiac, cerebral, and renal complications. The more severe the TTTS, the higher the incidence of severe brain injury. TTTS preterm infants with gestational age ≤28 weeks and stage Ⅳ or above have high risk of death.

Objective:To investigate the association of total sleep time (TST) and oxygen desaturation index (ODI) with hypertension in patients with obstructive sleep apnea/hypopnea syndrome (OSA).Methods:A total of 440 OSA patients admitted to Yixing Hospital from January 2017 to December 2022 were consecutively enrolled, including 236 patients with hypertension (OSA+hypertension group) and 204 patients without hypertension (OSA group). The clinical data and polysomnograpic parameters were collected. Univariate and multivariate logistic regression was used to analyze the related factors of OSA complicated with hypertension. The multiplicative interaction between TST and ODI on OSA with hypertension was analyzed. A two-factor cross-over analysis of TST and ODI was performed and the additive interaction model was used to analyze the additive interaction between TST and ODI on OSA with hypertension.Results:Univariate logistic regression showed that male sex, smoking, diabetes, coronary heart disease, TST <7 h, age, body mass index, neck circumference, waist circumference, Epworth Sleepiness Scale (ESS) score, TST, AHI, ODI>16 times/h, triglyceride, high density lipoprotein cholesterol and fasting blood glucose were positively correlated with hypertension in OSA patients (all P<0.05). Multivariate logistic regression analysis showed that smoking ( OR=4.327, 95% CI: 2.499-2.499, P<0.001), TST<7 h ( OR=1.748, 95% CI: 1.079-2.832, P=0.023) and ODI>16 times/h ( OR=3.482, 95% CI: 2.016-6.014, P<0.001) were independently associated with hypertension in OSA patients. After introducing a multiplicative term and adjusting for confounding factors, there was a positive multiplication interaction between TST <7 h and ODI>16 times/h ( OR=2.958, 95% CI: 1.079-8.113, P<0.050). Multivariate logistic regression analysis showed that the risk of hypertension in OSA patients with TST<7 h and ODI>16 times/h was 7.196 times (95% CI: 3.421-15.137) higher than that in patients with TST≥7 h and ODI≤16 times/h. The additive interaction model showed a synergistic effect between TST<7 h and ODI>16 times/h, with S value of 4.302 (95% CI: 1.566-11.815), RERI value of 4.756 (95% CI: 0.642-8.869) and API value of 66.10% (95% CI: 43.10%-89.10%). Conclusion:Shortened sleep duration and increased ODI are independent risk factors for hypertension in OSA patients, and when they coexist, the risk of hypertension in OSA patients is further increased.

Cerebral small vessel disease （CSVD） refers to a series of clinical， imaging， and pathological syndromes caused by various factors that affect intracerebral small arteries and their distal branches， arterioles， capillaries， venules， and small veins. CSVD has a complex etiology， an insidious onset， and significant clinical heterogeneity， which can lead to disability and greatly threatens the health and life of people. In recent years， the development of neuroimaging technology has greatly promoted the screening and diagnosis of CSVD， but there are still limited effective therapies for CSVD. This article reviews and summarizes the current treatment status and research advances in CSVD in recent years， including traditional treatment methods and potential therapeutic targets， and analyzes the future development directions in this field， so as to explore the effective treatment strategies for CSVD.
Stroke

Abstract OBJECTIVE To conduct a quality markers(Q-Markers) study on the treatment of cough with Feire Zhike granules based on the “five principles” of Q-Markers, combined with mass spectrometry, network pharmacology and cobweb model. METHODS Identification of the main chemical components in Feire Zhike granules by liquid mass spectrometry. The TCMSP database was searched to collect the active ingredients and corresponding targets of 11 herbs in the prescription of Feire Zhike granules. The GeneCards database was also searched to collect genes encoding cough-related proteins, and a herb-component-target network map was constructed. Assigning effectiveness to active ingredients based on the number of target sites. Check the pharmacopoeia and literature to obtain the measurable components of each herb. Determine the monarchical, ministerial and adjuvant attribution of the original herbs in the compound formula based on the principle of compatibility. The literature and TCMSP database were searched to screen the original herb for specificity components. RESULTS A total of 43 chemical components in the Feire Zhike granules were identified to be “delivered” to the formulation based on UHPLC-Q-TOF-MS/MS. The 124 active compounds were obtained from the TCMSP database and acted on 120 targets, 93 of which were associated with coughing. There were 6 components in the pharmacopoeia that specify quantitative methods. A total of 26 endemic components were found in 11 herbs in the compound formula. In addition, the above components were ranked according to the compatibility rules of monarch and minister and the scoring rules of cobweb model. The top 10 components were wogonin, baicalein, licochalcone A, nobiletin, acacetin, hesperidin, liquiritin, tuberstemonine, β-sitosterol and galangin, respectively. CONCLUSION The above 10 components can be identified as Q-Markers of Feire Zhike granules.

OBJECTIVES: To explore the role of mitochondrial CYB 15024G>A mutation in the development of essential hypertension. METHODS: Mitochondrial genome sequences of hypertensive patients were obtained from previous studies. Clinical and genetic data of a hypertensive patient with mitochondrial CYB 15024G>A mutation and its pedigree were analyzed. Lymphocytes derived from patient and family members were transformed into immortalized lymphoblastoid cell lines, and the levels of adenosine triphosphate (ATP), mitochondrial membrane potential and intracellular reactive oxygen species (ROS) were detected. RESULTS: The penetrance of this essential hypertension family was 42.9%, and the age of onset was 46-68 years old. Mitochondrial genome sequencing results showed that all maternal members carried a highly conserved mitochondrial CYB 15024G>A mutation. This mutation could affect the free energy of mitochondrial CYB for secondary and tertiary structure and protein folding, thereby changing its structural stability and the structure of the electron transfer function area around the mutation site. Compared with the control, the cell line carrying the mitochondrial CYB 15024G>A mutation showed significantly decreased levels of mitochondrial CYB, ATP and mitochondrial membrane potential, and increased levels of ROS (P<0.01). CONCLUSIONS Mitochondrial CYB 15024G>A mutation may affect the structure of respiratory chain subunits and mitochondrial function, leading to cell dysfunction, which suggests that the mutation may play a synergistic role in essential hypertension.
Humans ; Middle Aged ; Aged ; Reactive Oxygen Species ; Essential Hypertension/genetics* ; Adenosine Triphosphate ; Cell Line ; Mutation

Objective To observe the value of multimodal imaging for diagnosis of cardiac space-occupying lesions.Methods Data of 70 patients with cardiac space-occupying lesions who underwent echocardiography and cardiac CT(CCT)were retrospectively analyzed,among them 35 also underwent cardiac MRI(CMRI).The value of multimodal imaging for diagnosis of cardiac space-occupying lesions were explored according to the results of surgical pathology or clinical diagnosis.Results Among 70 cases,benign tumors were confirmed by surgical pathology in 43 cases,while malignant tumors were confirmed by surgical pathology in 3 cases and clinically diagnosed in 1 case.Meanwhile,non-tumor-occupying lesions were clinically diagnosed in 23 cases,all obviously shrunken after treatments.Among 70 cases,echocardiography correctly diagnosed 57 cases,misdiagnosed 8 cases and unclearly diagnosed 5 cases,with diagnostic accuracy rate of 81.43%(57/70).CCT correctly diagnosed 63 cases,misdiagnosed 4 cases but missed 3 cases,with diagnostic accuracy rate of 90.00%(63/70).CMRI outcomes in all 35 cases were consistent with surgical pathologic results,with diagnostic accuracy rate of 100%(35/35).Conclusion Multimodal imaging might provide objective evidences for diagnosis and treatment of cardiac space-occupying lesions.

OBJECTIVE: To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID). METHODS: Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA). RESULTS: Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance. CONCLUSION Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Craniofacial Abnormalities/genetics* ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Heart Defects, Congenital ; Humans ; Intellectual Disability/genetics*

ObjectiveTo investigate effect of conducting training of autism spectrum disorder （ASD） early screening skill on improving the ability to early identify ASD of medical staffs in primary care hospitals. MethodsIn September 2021， the training of ASD early screening skills was carried out for medical staffs from 20 primary care hospitals in Chengdu. After training， the training effect was evaluated. The numbers of referrals from primary care hospitals to superior hospitals， confirmed ASD as well as their average diagnostic age of children with ASD before and after training were used as evaluation indicators. ResultsAfter training， the number of children with suspected ASD referred by primary care hospitals was more than that before training ［（16.65±11.60） vs. （3.40±2.23）， t=5.431， P<0.01］， the number of children diagnosed with ASD was more than that before training［（6.85±4.93） vs. （2.45±1.67）， t=4.171， P<0.01］， and the differences were statistically significant. As for the diagnosed age of ASD children， after training， the average age was lower than that before training ［（34.95±11.67） vs. （42.2±14.64）， t=-2.553， P=0.019］. ConclusionTraining of ASD early screening skills for medical staffs in primary care hospitals may help to improve their ability to early screening ASD children.

Objective:Some medical liquid needs to be heated to the human body temperature, so the constant temperature case is a necessary equipment. But the common constant temperature case is often bulky, inconvenient application and the price is very high, so this paper is mainly to develop a convenient and cheap thermostat device for medical liquid heating.Methods:The system used single-chip microcomputer for temperature control. The temperature sensor collected and displayed the temperature of the box when the temperature was set up. Then the heating module started when the temperature was lower than the set point, and stopped heating when reaching to the set point.Results: The temperature control effect of constant temperature case tested by calibrated mercury thermometer, the temperature of constant temperature case was not significantly different from that of mercury thermometer.Conclusion: The portable constant temperature case for medical liquid have the characteristics of precise temperature control, high temperature resolution, and small temperature fluctuations. It can meet the clinical needs and be worth to popularizing in clinical applications.

Objective To assess the effect of aortic valve replacement (AVR) on left ventricular (LV) twist function in severe aortic stenosis (AS) patients with preserved LV ejection fraction (LVEF) by speckle tracking imaging (STI).Methods Twenty-eight severe aortic stenosis (AS) patients (17 male,age 64.1 ± 10.4 years) with normal LVEF (≥50％) were examined by STI before and six months after AVR.The standard mitral valve and apical short-axis views were obtained to analyze LV basal and apical peak systolic rotation.LV peak systolic twist was calculated as the different between apical rotation and basal rotation.LV fractional shortening (LVFS) was calculated as the percentage fall of LV systolic dimension with respect to diastolic dimension.The data were compared with 28 age and sex-matched normal controls.Results In patients,LVEF remained unchanged after AVR.LV twist increased before (19.7° ± 5.7° vs 12.9° ± 3.2°,P ＜0.001) because of increased apical rotation (13.0° ± 5.8° vs 7.6° ± 2.6°,P ＜0.001),and normalized after AVR (14.4°± 5.2°,P ＜0.001).In controls,LV twist correlated with LVFS (r =0.81,P ＜ 0.001),this relationship was reversed in patients before (r =0.52,P ＜0.01) and after AVR (r =0.34,P ＞0.05).Conclusions In patients with severe AS and normal LVEF,LV twist is exaggerated suggesting potential compensation for reduced long axis function.These disturbances normalize within six months of AVR but lose their relationship with basal LV function.