OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Objective:To evaluate the value of D-dimer(D-D) levels in the diagnosis of thromboembolism in children with severe Mycoplasma pneumoniae pneumonia (SMPP).Methods:A case control study was conducted on 51 SMPP patients admitted to Qingdao Women and Children′s Hospital Affiliated to Qingdao University and Jining First People′s Hospital from January 1, 2021 to August 1, 2024.They were divided into a thrombus group (19 cases) and a non-thrombus group (32 cases) according to whether they had thromboembolism.The characteristics of the cases were analyzed.Logistic regression was used to analyze the relationship between increased D-D levels and the risk of thrombosis.The value of D-D levels in predicting thromboembolism in SMPP patients was evaluated by the receiver operating characteristic curve.Results:Of the 19 patients with thrombosis, 11 had with pulmonary thrombosis, 6 had cerebrovascular thrombosis, 3 had heart thrombosis, 1 had spleen artery thrombosis, and 3 had multiple site thrombosis.Compared with the non-thrombus group, the thrombus group had higher D-D levels[(18.5±4.9) mg/L vs.(3.1±0.8) mg/L, t=3.118, P=0.006], higher C-reactive protein levels[25.5(15.5, 92.7) mg/L vs.7.9(3.9, 21.4) mg/L, Z=3.292, P=0.001], higher lactate dehydrogenase levels[484(351, 743) U/L vs.347(285, 396) U/L, Z=2.770, P=0.006] and a higher proportion of pleural effusion[63.1%(12/19) vs.25.0%(8/32), χ2=7.282, P=0.009].Increased D-D levels were an independent risk factor for thromboembolism in SMPP patients ( P=0.005, OR=1.254, 95% CI: 1.069-1.472).When the D-D level was used for predicting thromboembolism in SMPP patients, its cut-off value was 4.46 mg/L, its Youden index was 0.707, its area under the curve was 0.893(95% CI: 0.807-0.979), its sensitivity was 89.5%, its specificity was 81.2%, and its negative predictive value was 92.9%. Conclusions:D-D levels have high value in predicting thromboembolism in SMPP patients, and it can help timely identify patients at high risk.

Objective:To evaluate the value of D-dimer(D-D) levels in the diagnosis of thromboembolism in children with severe Mycoplasma pneumoniae pneumonia (SMPP).Methods:A case control study was conducted on 51 SMPP patients admitted to Qingdao Women and Children′s Hospital Affiliated to Qingdao University and Jining First People′s Hospital from January 1, 2021 to August 1, 2024.They were divided into a thrombus group (19 cases) and a non-thrombus group (32 cases) according to whether they had thromboembolism.The characteristics of the cases were analyzed.Logistic regression was used to analyze the relationship between increased D-D levels and the risk of thrombosis.The value of D-D levels in predicting thromboembolism in SMPP patients was evaluated by the receiver operating characteristic curve.Results:Of the 19 patients with thrombosis, 11 had with pulmonary thrombosis, 6 had cerebrovascular thrombosis, 3 had heart thrombosis, 1 had spleen artery thrombosis, and 3 had multiple site thrombosis.Compared with the non-thrombus group, the thrombus group had higher D-D levels[(18.5±4.9) mg/L vs.(3.1±0.8) mg/L, t=3.118, P=0.006], higher C-reactive protein levels[25.5(15.5, 92.7) mg/L vs.7.9(3.9, 21.4) mg/L, Z=3.292, P=0.001], higher lactate dehydrogenase levels[484(351, 743) U/L vs.347(285, 396) U/L, Z=2.770, P=0.006] and a higher proportion of pleural effusion[63.1%(12/19) vs.25.0%(8/32), χ2=7.282, P=0.009].Increased D-D levels were an independent risk factor for thromboembolism in SMPP patients ( P=0.005, OR=1.254, 95% CI: 1.069-1.472).When the D-D level was used for predicting thromboembolism in SMPP patients, its cut-off value was 4.46 mg/L, its Youden index was 0.707, its area under the curve was 0.893(95% CI: 0.807-0.979), its sensitivity was 89.5%, its specificity was 81.2%, and its negative predictive value was 92.9%. Conclusions:D-D levels have high value in predicting thromboembolism in SMPP patients, and it can help timely identify patients at high risk.

Objective: This study’s objective is to assess the efficacy and safety of Pulsed Magnetic Therapy System (PMTS) in improving insomnia disorder. Methods: Participants with insomnia disorder were randomly assigned to receive either PMTS or sham treatment for four weeks (n= 153; PMTS: 76, sham: 77). Primary outcomes are the Insomnia Severity Index (ISI) scores at week 0 (baseline), 1, 2, 3, 4 (treatment), and 5 (follow-up). Secondary outcomes are the Pittsburgh Sleep Quality Index at baseline and week 4, and weekly sleep diary-derived values for sleep latency, sleep efficiency, real sleep time, waking after sleep onset, and sleep duration. Results: The ISI scores of the PMTS group and the sham group were 7.13±0.50, 11.07±0.51 at week 4, respectively. There was a significant group×time interaction for ISI (F3.214, 485.271=24.25, p<0.001, ηp 2=0.138). Only the PMTS group experienced continuous improvement throughout the study; in contrast, the sham group only experienced a modest improvement after the first week of therapy. At the end of the treatment and one week after it, the response of the PMTS group were 69.7% (95% confidence interval [CI]: 58.6%–79.0%), 75.0% (95% CI: 64.1%–83.4%), respectively, which were higher than the response of the sham group (p<0.001). For each of the secondary outcomes, similar group×time interactions were discovered. The effects of the treatment persisted for at least a week. Conclusion PMTS is safe and effective in improving insomnia disorders.

Objective: To analyze the association of personality characteristics and cognitive adjustment strategies among parents of adolescents with non suicidal self injury(NSSI) with adolescent NSSI. Methods: Adolescents with NSSI who visited the hospital from January 2020 to January 2021 were recruited as the case group( n =60), and healthy adolescents recruited in the school, community and hospital were selected as the control group( n =60). The participants parents completed the Chinese Big Five Personality Inventory and the Chinese version of the Cognitive Emotion Regulation Questionnaire (CERQ-C), Logistic regression was used to explore the associations. Results: Parents of the control group had higher scores of openness (40.90±6.19) and conscientiousness (48.18±6.12) than parents of the case group (36.88±5.02)(44.12±6.58) ( t =3.90，3.50， P <0.05). In terms of negative events, scores of acceptance, positive reappraisal, refocusing on planning, positive refocusing and putting into perspective were higher among parents of the control group than among parents of the case group ( t =3.43，3.58，2.36，5.44，3.53， P <0.05). Among parents of the case group, neuroticism was positively correlated with putting into perspective ( r =0.31) and catastrophizing ( r =0.37). Openness was positively correlated with positive refocusing ( r =0.30) and positive reappraisal ( r =0.27). Acceptance was negatively correlated with extroversion ( r = -0.29 ), openness ( r =-0.40), conscientiousness ( r =-0.26),while other blame was negatively correlated with extroversion ( r = -0.35 ), agreeableness ( r =-0.36). Extraversion was negatively associated with positive refocusing ( r =-0.32)( P <0.05). According to binary regression analysis, the income of parents in the case group ( OR =0.49), education ( OR =0.60), acceptance ( OR =0.59), positive reappraisal ( OR =0.45), putting into perspective ( OR =0.53), neuroticisms ( OR =0.81), openness ( OR =0.76) and conscientiousness ( OR =0.74) were risk factors, whereas refocusing on planning ( OR =2.09) and self blame ( OR =1.55) were protective factors of NSSI in the case group( P <0.05). Conclusion When confronted with adverse events, the personality characteristics of parents of children with NSSI, and the emotional regulation strategies adopted by these parents, have influence on the prevalence of NSSI in this population.

This study aims to explore the effect of aortic sinus diameter on aortic valve opening and closing performance in the case of no obvious disease of aortic valve and annulus and continuous dilation of aortic root. A total of 25 three-dimensional aortic root models with different aortic sinus and root diameters were constructed according to the size of clinical surgical guidance. The valve sinus diameter S is set to 32, 36, 40, 44 and 48 mm, respectively, and the aortic root diameter is set to 26, 27, 28, 29 and 30 mm, respectively. Through the structural mechanics calculation with the finite element software, the maximum stress, valve orifice area, contact force and other parameters of the model are analyzed to evaluate the valve opening and closing performance under the dilated state. The study found that aortic valve stenosis occurs when the = 32 mm, = 26, 27 mm and = 36 mm, = 26 mm. Aortic regurgitation occurs when the = 32, 36 and 40 mm, = 30 mm and = 44, 48 mm, = 29, 30 mm. The other 15 models had normal valve movement. The results showed that the size of the aortic sinus affected the opening and closing performance of the aortic valve. The smaller sinus diameter adapted with the larger root diameter and the larger sinus diameter adapted with the smaller root diameter. When the sinus diameter is 40 mm, the mechanical performance of the valve are good and it can well adapt with the relatively large range of aortic root dilation.
Aorta ; anatomy & histology ; Aortic Valve ; physiology ; Aortic Valve Insufficiency ; physiopathology ; Aortic Valve Stenosis ; physiopathology ; Humans

Objective To explore the effect of different initial state setting on a valve simulation. Methods Two-dimensional structural models were established with the initial state of the aortic valve being partially closed in one model and fully opened in the other. The time-dependent load was applied to the valve and the vessel wall of the aortic and the ventricle sides. The finite element method was used to study the maximum stress, the length of the joint, and the contact force of the closed aortic valve under two different initial states. Results The stress and contact force of the aortic valve were relatively large at the closed position when the initial state was fully opened. The closure degree of the valve was low, and the variations in stress and closure degree were large during the periodic cycle. The stress and contact force of the valve were relatively small when the aortic valve was partially closed. The closure degree was high, and the variations in stress and closure degree of the aortic valve were small during the periodic cycle. Conclusions In the case of the aortic valve partially closed in the initial state, the stability of the calculation process and the closure degree of the valve were relatively high, which should be given more consideration in numerical simulation. The results can be used to study the mechanical behavior of the valve and the biomechanical mechanism of the aortic root.

Objective To observe the efficacy of continuous renal replacement therapy (CRRT) combined with hemoperfusion (HP) on patients with severe acute aconitine poisoning. Methods One patient suffered from severe acute aconitine poisoning was admitted into the Department of Critical Care Medicine of Affiliated Hospital of Guizhou Medical University, besides the gastric lavage and multi-organ supportive conventional therapies, CRRT combined with HP was given to the patient and his clinical data of life vital signs and other parameters were observed. Results After the patient underwent 4 episodes of CRRT (102 hours in total) and HP (8 hours in total) based on the conventional treatment, 4 days later, the disease situations were gradually stabilized, all of their parameters became gradually normal, the patient successfully weaned off from mechanical ventilation, the via mouth tracheal intubation was pulled out and the patient was transferred out of department of critical care medicine. Conclusion In the patient with acute aconitine poisoning, it is necessary to use CRRT combined with HP as early as possible, that can effectively eliminate the toxicant in the body and quickly correct the electrolytic and acid-base disturbances, so as the above combine method can improve the patient's prognosis and elevate the successful rescue rate.

Objective To explore the state of cardiac autonomic nerve function in schizophrenia patients with metabolic syndrome and analyze its influence factors and to reduce the occurrence of sudden cardiac death of the patients. Methods A total of 168 cases of patients according with the ICD-10 schizophrenia diagnostic criteria were divided into group A(78 cases of schizophrenia with metabolic syndrome),group B(90 cases of schizophre-nia without metabolic syndrome)and another 92 normal cases were included as control group(group C). Twenty-four hours dynamic electrocardiogram was conducted respectively and the heart rate variability (HRV) was ana-lyzed. Results Values of LF,HF,SDNN,SDANN,RMSSD and PNN50 in group A and group B were much low-er than those in group C and they were statistically significant(P < 0.05). Values of LF,HF,SDNN,SDANN, RMSSD and PNN50 in group B were much higher than those in group A and they were statistically significant(P<0.05). Excluding the influence of schizophrenia ,logistic regression analysis showed that the influence factors of HRV values were course of the disease(OR = 1.864,95%CI 1.110~3.128),age(OR = 1.170,95%CI 1.018~2.491),types of antipsychotic drugs(OR=2.419,95%CI 0.976~1.835),abdominal obesity(OR=2.425,95%CI 1.347~4.366),blood pressure value(OR=1.263,95%CI 1.575~3.937),blood glucose value(OR=3.376, 95%CI 1.359~2.923)and blood lipid value(OR = 2.178,95%CI 1.492~6.756). Conclusions Schizophrenia patients with metabolic syndrome have obvious cardiac autonomic nerve dysfunction. Excluding the influence of schizophrenia itself,the other possible risk factors include course of the disease,age,types of antipsychotic drugs,abdominal obesity,blood pressure value,blood glucose value and blood lipid value.

OBJECTIVETo investigate the frequency of anaplastic lymphoma kinase (ALK) expression in non-small cell lung cancer (NSCLC) patients and its correlation with the clinicopathologic features.

METHODSALK immunohistochemistry and ALK fluorescent in situ hybridization (FISH) were performed on formalin-fixed, paraffin-embedded tissue in 100 cases of NSCLCs between 2011 and 2013. Relevant clinicopathologic data were collected and correlated with ALK expression.

RESULTSAll patients with immunohistochemical score of 3 (n = 12) were FISH-positive and all patients with score of 0 (n = 78) were FISH-negative. Among patients with immunohistochemical scores of 1 and 2, 2/3 and 6/7 were FISH-positive, respectively. The sensitivity and specificity of ALK immunohistochemistry with intensity score of 1 or more were 100% and 98%, respectively. Invasive mucinous adenocarcinoma, solid or acinar growth pattern, presence of mucous cells (signet-ring cells or goblet cells), extracellular mucus and lack of significant nuclear pleomorphism characterized ALK-rearranged cancer.

CONCLUSIONSALK-rearranged cancers possess specific histological features. Immunohistochemistry can be used as a routine test for screening ALK-positive cases in advanced NSCLC, and FISH testing should be used to confirm ALK translocation for patients with tumors showing staining for ALK by immunohistochemistry. All of these can help physicians identify patients who may benefit from targeted therapy.

Carcinoma, Non-Small-Cell Lung ; enzymology ; Female ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lung Neoplasms ; enzymology ; Male ; Paraffin Embedding ; Receptor Protein-Tyrosine Kinases ; metabolism ; Sensitivity and Specificity