Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring short stature and postaxial polydactyly.@*METHODS@#A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.@*RESULTS@#The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent.@*CONCLUSION@#The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.

Effect of nursing intervention based on protection motivation theory on medication compliance and quality of life in elderly Parkinson patients / 中国实用护理杂志

Objective:To explore the effect of nursing intervention based on protection motivation theory on medication compliance and quality of life in elderly patients with Parkinson′s disease.Methods:From August 2017 to August 2018, 60 elderly patients with Parkinson′s disease were selected. The patients were randomly divided into the control group ( n = 30) and the intervention group ( n = 30). In the control group, the routine nursing model was adopted, and the intervention group accepted the nursing intervention based on the protection motivation theory. Two groups of patients were investigated by using medication compliance scale and the 39-item Parkinson′s Disease Questionnaire. Results:Three months after the intervention, 86.67%(26/30) of the patients in the intervention group and 33.33%(10/30) of the patients in the control group had good compliance with the drug, and the difference between the two groups was statistically significant ( χ2 value was 17.778, P < 0.05). The total scores of quality of life and scores of physical activity, daily life behavior, mental health, humiliation, social support, cognition, communication and physical discomfort in the intervention group were 26.20±3.12, 4.00±0.76, 4.87±1.19, 2.33±0.72, 1.93±0.17, 2.80±0.86, 4.40±1.12, 2.27±0.80, 3.27±1.10, the scores in the control group were 39.20±2.88, 7.40±1.12, 7.13±0.83, 3.80±0.68, 2.87±0.64, 4.27±0.96, 5.20±0.68, 3.73±0.70, 5.07±0.80, the difference between the two groups was statistically significant ( t value was -2.366-11.849, P <0.05). Conclusion:Nursing intervention based on the protection motivation theory can improve the compliance of elderly patients with Parkinson's disease and their quality of life.

Effect of micro-incision phacoemulsification on IL-6， TNF-α and EGF expressions in tears of patients with cataract / 中国医师杂志

Objective To investigate the effect of micro-incision phacoemul-sification on cataract patients and its effect on interleukin (IL)-6, tumor necrosis factor-α (TNF-α), and epidermal growth factor (EGF) expressions in cataract patients.Methods With forward-looking research, 284 cataract patients were randomly included in the control (coaxial conventional incision phacoemulsification) or observation (coaxial micro-incision phacoemulsification) groups, with 142 cases per group.The effective phacoemulsification time and mean ultrasonic energy difference were compared between two groups, and the uncorrected vision recovery, Ocular Surface Disease Index (OSDI), tear break-up time (BUT), schirmer I test (SIt), corneal fluorescence stain (FL), and the expressionsIL-6, TNF-α and EGF were measured in two groups on preoperative (T0), 1 week after operation (T1), 2 weeks after operation (T2), 4 weeks after operation (T3), and the above indicators of Spearman correlation analysis.Results There was no significant difference in effective phacoemulsification time and mean ultrasonic energy between two groups (P ＞ 0.05).The improvement of uncorrected visual acuity in observation group was significantly better than that in the control group (F=6.116, P =0.032).In addition, OSDI, FL,IL-6,TNF-α, and EGF showed the first increase and then decreased at different time points, and the observation group was superior to the control group with statistically significant difference.At the same time, BUT and SIt showed a trend of increasing first and then decreased, and the observation group was superior to the control group with statistically significant difference.In addition, IL-6, TNF-α, and EGF expressions were positively correlated with OSDI and FL scores (P ＞ 0.05).Conclusions Micro-incision phacoemulsification can help reduce the expressions of IL-6 and TNF-α, improve the expression levels of EGF in cataract patients, and reduce the incidence of adverse symptoms such as dry eye after operation.It might improve the clinical therapeutic effect.

Application of tracking methodology in senile patients′ physical restraint management / 中国实用护理杂志

Objective To explore the effect of Tracer Methodology on the physical restraint management of the elderly patients. Methods The idea of Tracer Methodology was based on a case study of physical restraint, and then complementary tracking and system tracking. The key problem, which was founded in using Tracer Methodology on the physical restraint management of the elderly patients, could be continuously improved from the regulations, procedures, training, implementation, inspection, feedback, rectification, the implementation and the effectiveness. The normative rate of physical restraint was compared before and after the implementation of this method. Results After using the Tracer Methodology, the rate of physical constraint in the elderly patients was 82% (41/50), which was significantly increased (χ2=5.877,P=0.015) compared with before implementation of this method, which was 60% (30/50). Conclusions Tracer Methodology could improve the normative rate of physical restraint in elderly patients. Meanwhile, it was beneficial for nurses to participate in quality management, and strengthen the team cooperation.

Analysis of intervals of pulse oximetry in congenital heart disease screening / 临床儿科杂志

Objective To explore the best time period of pulse oximetry in congenital heart disease (CHD) screening. Methods Totally 5433 newborns delivered or treated in Ningbo Women and Children’s hospital were enrolled in the study. Cardiac color ultrasound was used to arrive diagnosis and every screening time period (0?~?24 h、24 h?~?48 h、48 h?~?72 h) was analysed. Results Among the three time periods: the sensibility was in the range of 54.72%?~?67.92%, specificity was 99.11%?~?99.61%, false negative rate was 32.08%?~?43.40%, false positive rate was 0.39%?~?0.89%, Youden index was 0.54?~?0.68, coincidence rate was 98.67?~?99.30, and kappa was 0.44?~?0.65. Conclusion The best screening time is the period between 48h and 72 h after birth.

Transesophageal echocardiography guided occlusion of ventricular septal defect via small chest incision: a report of 142 cases / 中国医师杂志

Objective To investigate the experience of microinvasive surgical occlusion of ventricular septal defect (VSD).Methods A total of 142 children with VSD was given microinvasive surgical occlusion from March 2009 to December 2013 at our hospital.There were 90 males and 52 females,the age ranged from 8 months to 11 years,and body weight from 7 kg to 35 kg,and ventricular septal defects were divided into membranous type,film cycle headquarter type,pulmonary valve type,and muscle type.The diameter of VSD was 2 ～ 10 mm.Under general anesthesia,an incision was made in the lower part of sternum or intercostals space,and a special occluder was inserted to close the ostium via right ventricle puncture under the guidance of transesophageal echocardiography.Results A total of 139 cases had successful occluded with a 97.8％ of successful rate,using blocking umbrella 4 ～ 12#,including 25 eccentric umbrella.Two cases were operated under extracorporeal circulation because of aggravated aortic valve insufficiency.One case without handled muscular ventricular septal defect combined atrial septal defect for guide wire pass muscular defect failed.Full set did not have death and third degree A-V block.Conclusions Microinvasive surgical occlusion is easy to handle,operation-time short,and relative broad for the closure of ventricular septal defect.It has a fast recovery and good effectiveness with a beautiful outlook and safety.

Literature analysis on application of non-protective midwifery in China / 局解手术学杂志

Objective To analyze the application of non-protective midwifery in China so as to provide a theoretic basis for the develop-ment of this technique. Methods The full-text literatures of non-protective midwifery published in China during January 2004 and January 2014 were searched and obtained in China National Knowledge Infrastructure ( CNKI) ,Wanfang Database and VIP Database via computer. All searched literatures were analyzed with the literature study method. Results Totally 21 literatures were obtained by search. They were centrally from the coastal areas and mainly the controlled studies,and focused on the comparison of non-protective midwifery vs. protective midwifery in perineal laceration,second birth course and intrapartum bleeding volume. Conclusion The literatures show that non-protective midwifery is significantly beneficial for patients,though it develops later and concentrates at partial areas. Such midwifery technique shall be popularized all around the country.

Effect of thin foam dressings combined with ice compress on postoperative facial swelling / 现代临床护理

Objective To investigate the preventive effect of thin foam dressings(Allevyn Thin)combined with ice compress on facial plastic postoperative swelling and to summarize the nursing key points.Methods Sixty patients after facial plastic surgeries in our department were randomly divided into the observation group and the control group with 30 cases in each group.In the control group,ice packs wrapped with sterile gauze were placed on the patients’ wound dressings postoperatively and fixed properly for 30 to 40 minutes with an interval of 30 minutes,6 to 10 times a day for 72 hours postoperatively.In the observation group,thin foam dressing was stick to the wounds,followed by ice compress as in the control group.The facial swelling degrees of both groups were compared on day 3 and day 7 postoperatively.Result The swelling degree in the observation group was significantly smaller than that of the control group(P<0.01).Conclusion Thin foam dressings combined with ice compress can effectively improve the postoperative early swelling of patients receiving facial plastic surgery and therefore it is worthy of clinical popularization and application.

High levels of interleukin-6 and 8-iso-prostaglandin in the exhaled breath condensate and serum of patients with chronic obstructive pulmonary disease related pulmonary hypertension / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Pulmonary hypertension (PH) is a common complication of chronic obstructive pulmonary disease (COPD). Although alveolar hypoxia is considered as a main cause of PH in COPD, structural and functional changes of pulmonary circulation are apparent at the initial stage of COPD. We hypothesized that an inflammatory response and oxidative stress might contribute to the formation of PH in COPD.</p><p><b>METHODS</b>We measured the levels of interleukin-6 (IL-6) and 8-iso-prostaglandin (8-iso-PSG) in exhaled breath condensate (EBC) and serum in 40 patients with COPD only or in 45 patients with COPD combined with PH. Pulmonary arterial systolic pressure (PASP) was assessed by Doppler echocardiography and defined as PH when the value of systolic pressure was greater than 40 mmHg.</p><p><b>RESULTS</b>Compared with the COPD only group, the level of IL-6 in EBC was significantly increased in all 45 patients with COPD combined with PH ((8.27±2.14) ng/L vs. (4.95±1.19) ng/L, P < 0.01). The level of IL-6 in serum was also elevated in patients with COPD combined with PH compared with the COPD only group ((72.8±21.6) ng/L vs. (43.58±13.38) ng/L, P < 0.01). Similarly, we also observed a significant increase in the level of 8-iso-PSG in both EBC and serum in the COPD with PH group, compared with the COPD only group (EBC: (9.00±2.49) ng/L vs. (5.96±2.31) ng/L, P < 0.01 and serum: (41.87±9.75) ng/L vs. (27.79±11.09) ng/L, P < 0.01). Additionally, the value of PASP in the PH group was confirmed to be positively correlated with the increase in the levels of IL-6 and 8-iso-PSG in both EBC and serum (r = 0.477-0.589, P < 0.05).</p><p><b>CONCLUSION</b>The increase in the levels of IL-6 and 8-iso-PSG in EBC and serum correlates with the pathogenesis of PH in COPD.</p>

The serum sFas level changes of intravenous immunoglobulin treatment of incomplete Kawasaki disease / 中国医师杂志

Objective To observe the changing levels of serum sFas before and after intravenous i mmunoglobulin (IVIG) treatment of incomplete Kawasaki disease (IKD),to explore the roles of sFas in the pathogenesis of IKD and IVIG treatment mechanism.Methods Thirty eight cases of IKD children were selected as experimental group and 20 examples of the same age of children as the control group.The IKD children were treated by IVIG in combination with aspirin (ASP) ; and blood test was performed before treatment,3 days after treatment,and 14 days after treatment,respectively.Dual-resistant sandwich enzyme-linked immunosorbent assay (ELISA) was used to detect the levels of serum sFas,plasma Fibrinogen (PT-D),d-dimer (D-D),and c-reactive protein (CRP).Results The levels of serum sFas,PT-D,D-D,and CRP were significantly higher than the control group for IKD children before treatment[(0.55 ± 0.14)ng/L vs (0.24 ±0.04) ng/L,(552.3 ± 147.2) mg/dl vs (277.3 ±82.5)mg/dl,(649.0 ±201.6) μg/L vs (315.4 ±91.8)μg/L,and(72.2 ±28.7)mg/L vs (7.2 ±2.9)mg/L; t' =12.41,9.11,8.64,13.82;All P ＜ 0.05] ;3 days after treatment,compared with those before treatment and control group,the sFas level of IKD children at the third day after treatment was significantly decreased compared to that before treatment and control groups,respectively [(0.43 ± 0.09) ng/L vs (0.55 ± 0.14) ng/L,(0.24 ± 0.04) ng/L,F =47.624,All P ＜0.05] ;For the level of sFas at the 14th day after treatment,no statistical significance was found between IKD children and the control group[(0.24 ±0.05) ng/L vs (0.24 ±0.04) ng/L,t =0.596,P ＞ 0.05].Conclusions The abnormally increased serum sFas level before IVIG treatment suggests that dysfunction of apoptosis be involved in the pathogenesis of the IKD.Intravenous immunoglobulin treatment may be involved in the apoptosis process.

Analysis on Risk Factors of Type 2 Diabetes Mellitus with Mild Cognitive Dysfunction / 天津医药

Objective To investigate the risk factors of mild cognitive impairment (MCI) in patients with type 2 dia-betes (T2DM), and the clinical evidence for the early diagnosis and treatment thereof. Methods A total of 217 T2DM pa-tients were divided into T2DM with MCI group (n=92) and T2DM with normal cognitive function(NMCI) group (n=125). Mon-treal cognitive assessment scale (MoCA) and activities of daily living scale (ADL) were used to assess the functional status in two groups of patients. The general clinical data and biochemical indicators were obtained and compared in two groups. Re-sults There were statistical differences in age, smoking history, education status, high sensitive C reactive protein (hs-CRP), coronary heart disease, hypertension, glycated hemoglobin A1c (HbA1c) and T2DM history between two groups. Re-sults of univariate logistic regression analysis showed that old age, longer course of T2DM, smoking history, higher hs-CRP and HbA1c, complicated with coronary heart disease and hypertension were risk factors for T2DM with MCI, while the higher education status was a protective factor. Multiple logistic regression analysis showed that old age and longer T 2DM history were risk factors, and the higher education was a beneficial factor for T2DM with MCI. Conclusion Many risk factors may play a part in T2DM with MCI. Early detection and prompting medical attention may help prevent and decrease the preva-lence of MCI in patients with T2DM.

Maxillary anterior tooth restoration by using fiber-reinforced composite with a natural tooth pontic: a case report / 华西口腔医学杂志

Loss of anterior tooth impairs patients physically and emotionally as well as presents a challenge for dentists. This article presented a method of replacing one anterior tooth that was extracted because of periodontitis. The proposed method involves the use of the natural crown as pontic with fiber-reinforced composite resin-bonded fixed partial denture.

Enteral Nutritional Support for Patients with Dysphagia following Stroke (review) / 中国康复理论与实践

@# Dysphagia is one of the most common and life-threatening complications in patients with stroke, and nutritional support plays an important role in rehabilitation. This article reviewed the progression of study on assessment for dysphagia and nutrition, and the timing, method and complication of enteral nutrition.

Study on the association of apoptosis-related molecule serum-soluble Fas with incomplete Kawasaki disease / 中国医师杂志

ObjectiveTo compare the levels of sFas in the sera among Kawasaki disease (KD),incomplete Kawasaki disease (IKD),and normal control groups,and to analyze the relationship of sFas with IKD children.MethodsA total of 32 cases of acute KD and acute IKD children,and 20 cases of the control children were selected,respectively.The levels of serum sFas among three groups were measured using ELISA kits.Each child among the three groups was examined by echocardiography.Results(1)The levels of serum sFas among the three groups were[ (0.54±0.20)ng/L in KD,(0.55±0.16)ng/L in IKD,and (0.24 ± 0.04) ng/L] in control group,respectively.The overall means of sFas in the KD and IKD groups were higher than the control group,and the differences were statistically significant( F=29.276,P＜0.05 ).(2)The levels of serum sFas among echocardiography abnormal and normal groups were[ (0.65±0.19) ng/L and (0.49±0.10)ng/L],respectively; and the difference between two groups were statistically significant ( t=3.139,P ＜ 0.05 ).ConclusionsThe expression levels of sFas in the peripheral serum of IKD children were increased,and there was a close association of overexpression of sFas with the cardiovascular damage in IKD children.

Musclin gene overexpression in skeletal muscle of rats with long-term high-fat diet and its correlation with insulin resistance / 中华内分泌代谢杂志

The expression of musclin gene in skeletal muscle of rats fed with high-fat diet and its correlation to insulin resistance.diabetes mellitus and GLUT4 were explored.The results showed that musclin expressin was up-regulated(1.39±0.36 vs 0.31±0.07,P<0.01)in skeletal muscle of rats fed with high-fat diet, suggesting that this finding may be related with insulin resistance and involvement of GLUT-4 expression(1.27 4± 0.32 vs 1.84±0.24.P<0.01).

Study on the relationship between apoptosis modulator Fas/ FasL and sFas in peripheral blood lytnphoeytes and KD / 中华风湿病学杂志

Objective To explore the effect of Fas, Fas ligand (FasL), soluble Fas (sFas) and their clinical significance in KD. Methods The expression of Fas, FasL in peripheral blood lymphocytes (PBLC) were detected with flow cytometery at acute and remission stages in patients with KD; and the serums Fas was detected by double antibody sandwich ELISA in the patients with KD at acute and remission stage, meanwhile erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) were also tested. Results The expression of Fas, FasL in PBLC in patients with KD at acute stage was (14.2±0.5)% and (1.61±0.09)% respectively , which were significantly lower than those at remission stage [(15.7±0.5)%, (1.95±0.09)% respectively (P<0.05 and P<0.01)]. The expression of Fas in PBLC in the patients with KD at acute and remission stage was both significantly lower than that in normal control group (20.8±0.5)% (P<0.01 both);The expression of FasL in PBLC in patients with KD at acute and remission stage was both significantly lower than that in normal control group (20.8±0.5)% (P<0.01 both); the serum sFas in patients with KD at acute and remission stage was (1906±55)μg/L and (1622±52)μg/L respectively , which was significantly higher than that in normal control group (1151±51)μg/L (P<0.01 both); the serum sFas at acute stage was obviously higher than that at remission stage (P<0.01); there was positive correlation between sFas and ESR, CRP (P<0.01 both). Conclusion There are abnormal expressions of Fas/FasL in PBLC and sFas in patients with KD. Fas/FasL is lower and sFas is higher than that of the controls. The abnormal expression of Fas/ FasL in lymphocytes and the apoptosis triggered by sFas are probably involved in the immunological aberrance and pathogenesis of KD. sFas may be used as a marker to evaluate the disease activity and therapeutic efficacy.