ObjectiveTo analyze the association between type 2 diabetics and cerebral infarction and to guide the future clinical practice.MethodsA comparison study was conducted between 68 patients with Type 2 diabetes mellitus complicated with cerebral infarction(DCI) and 76 patients with cerebral infarction but no diabetic cerebral infarction (NDCI) .They were hospitalized during January 2007 and April 2010 and compared for the difference in blood pressure(BP), the cholesterol (TG), the triglyceride (TC), the lipoprotein cholesterol(LDC-C), the ages, the position of infarction, the amount of infarction, the clinical manifestations and the prognosis.ResultsThe patients with DCI had more lacunar infarction(41.2％)and multiple infarctions (33.8％)than those with NDCI(15.8％ and 19.8％) .The difference was statistically significant (P ＜0.01) In the diabetic patients group, compared with the control group, the systolic blood pressure was ([155.8 ±24.0]mm Hg) vs.([138.5 ± 22.0]mm Hg), diastolic blood pressure was ([89.6 ± 15.0]mm Hg)vs.([84.7 ±14.0]mm Hg),the TG([1.6 ± 0.3]mmol/L vs.[1.2 ±0.2]mmol/L),the LDC-C(1.3 ±0.7]mmol/L vs.[2.7 ± 0.3]mmol/L) and the ages(50.6 ± 6.4) years vs.(57.8 ± 6.5)years.These parameters in DCI group patients were significantly higher than that of NDCI group(P ＜0.01) .The DCI patients had a longer hospitalization period ([17.8±5.7]and [14.5±6.3]d,t=1.67,P＜0.05].ConclusionDiabetes is a risk factor of cerebral infarction and of the deterioration of cerebral infarction.Prevention or treatment at a early stage of diabetes and strict control of blood sugar,the blood pressure as well as blood lipids is essential to reduce the occurrence of ischemic infarction and improve the prognosis.

10.3969/j.issn.2095-4344.2013.26.013

Objective To explore the related factors of anxiety and gloomy mentality people aged 60-80 years and investigate the effectiue methods to intervention.Methods A follow-up study was proportional and carried out in Xicheng district of Beijing.Multi-phase,stratified,unequal cluster sampling was adopted to investigate old people in 2011 with WHO-QOL,Memorial University of Newfoundl and Scale of Happiness,Social Support Rating Scale,Self-Rating Anxiety Scale and Self-rating Depression Scale.2342 old people were randomly divided into control group and trial group.The trial group received health education,community social support,lightening the psychological stress in face to face,psychology guiding and group discussion.The control group received general observation only.Results Among 2342 old people,126 (5.3％) obtained anxiety and 201(8.6％) had gloomy mentality.The anxiety in the elderly was significantly related to age,marriment,culture,job,family type,family relationship,housing,income,medical insurance,retirement type,reading,keeping pets,character,training,feeling adjusting,life quality,subjective well-being,social support,depression (all P ＜ 0.05).The depression in the elderly was significantly related to gender,marriment,culture,job,family type,family relationship,housing,income,medical insurance,retirement type,reading,watching plays,character,feeling adjusting,drinking,training,life quality,subjective well-being,social support,anxiety (all P＜0.05).Scores of two groups had no significant difference before intervention.The change in scores of anxiety and depression in the trial group was obviously lower than in control group (P＜0.05).Conclusions The anxiety and gloomy mentality are common in old people aged 60-80 years in Xicheng District,which independently associated with related factors such as life quality,subjective well-being,social support and so on.After 6 months of treatment,the scores of anxiety and depression in the trial group is obviously lower than in control group.

Objective:To identify the risk factors affecting the healing of defective bony nonunion.Methods:The studies reporting the risk factors for healing of defective bony nonunion between January 2000 and March 2022 were retrieved by computer from the VIP, Wanfangdata, CNKI, Web of Science, PubMed, and Medline databases. The Newcastle-Ottawa Scale (NOS) was used to evaluate the quality of the included studies. the RevMan 5.3 software was used to perform a meta-analysis of the general factors, injuries and surgical-related factors affecting the healing of defective bony nonunion.Results:Included in this Meta analysis were 17 studies with 1,236 patients. The NOS score of the included studies was from 5 to 8. The meta-analysis showed the following: age ( MD=-4.27, 95% CI: -8.29 to 2.91, P < 0.01), smoking ( OR=3.56, 95% CI: 2.81 to 6.32, P < 0.01), soft tissue defect ( OR=3.54, 95% CI: 2.21 to 5.69, P < 0.01), combined ipsilateral fibular fracture ( OR=4.18, 95% CI: 1.24 to 14.03, P=0.02), venous thrombosis ( OR=4.27, 95% CI: 1.05 to 17.44, P=0.04), and postoperative infection ( OR=2.96, 95% CI: 1.97 to 4.47, P < 0.01) were significant risk factors for the healing of defective bone nonunion. Minor bone defect ( SMD=-0.67, 95% CI: -1.25 to -0.10, P=0.02), proximal to distal bone transport ( OR=-0.42, 95% CI: 0.22 to 0.77, P < 0.01), short-term external fixation ( MD=-3.92, 95% CI: -7.10 to -0.73, P=0.02), and autologous bone grafting ( OR=0.39, 95% CI: 0.16 to 0.95, P=0.04) were protective factors for the healing of defective bony nonunion. Conclusions:High age (senility), smoking, soft tissue defect, ipsilateral fibular fracture, venous thrombosis, and postoperative infection are risk factors affecting the healing of defective bony nonunion. Minor bone defect, proximal to distal bone transport, short-term external fixation, and autologous bone grafting are protective factors affecting the healing of defective bony nonunion. Surgeons can predict early the prognosis of patients with defective bony nonunion based on the above factors.

Objective:To study the clinical and laboratory characteristics of neonatal isolated sulfite oxidase deficiency (ISOD).Methods:An infant with neonatal ISOD admitted to our hospital was retrospectively analyzed. Using key words "isolated sulfite oxidase deficiency", "SUOX gene", "Infant, newborn", databases including CNKI, Wanfang database, National library and literature center of science and technology, China science paper online, PubMed, Web of Science and EMBASE (up to January 2021) were searched and literature review was conducted. The clinical manifestations, laboratory results, treatment and prognosis were analyzed.Results:Our patient was a full-term male infant with eye movement disorder, refractory seizures, feeding difficulties, increased muscle tone, developmental retardation and microcephaly. Urine sulfite paper-strip test was positive. Uric acid was normal. Whole exon sequencing (WES) revealed SUOX c.475G>T and c.1201A>G compound heterozygous mutations. Cranial MRI showed multiple encephalomalacia and brain atrophy at 5-month of age. The infant died at 8-month. In the literature review, a total of 29 articles and 32 cases of neonatal ISOD were found. 87.5% of the cases developed symptoms within 1-week after birth. All had convulsive seizures. Some of them had feeding difficulties, muscle tone changes, developmental retardation, microcephaly and ectopia lentis. Cranial imaging showed white matter cystic lesions and brain atrophy. Laboratory examination showed elevated urinary sulfite and S-sulfocysteine. Uric acid and xanthine/hypoxanthine were normal. Blood homocysteine was decreased. 23 cases received genetic testing and all of them had SUOX mutations. The treatment was mainly symptomatic relief and supportive treatment. During follow-up, 15 cases died, 13 cases survived and 4 cases were unknown. All the surviving children had drug-resistant convulsions and developmental retardation.Conclusions:Neonatal ISOD may present with refractory convulsions, feeding difficulties and developmental retardation. Cystic white matter changes and brain atrophy may be seen on cranial imaging. Elevated urinary sulfites, decreased blood homocysteine and normal uric acid are important clues for diagnosis. Genetic testing is helpful for early diagnosis.

OBJECTIVE: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. METHODS: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene. RESULTS: The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported. CONCLUSION The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Amino Acid Metabolism, Inborn Errors/genetics* ; Child ; Female ; Heterozygote ; Humans ; Isovaleryl-CoA Dehydrogenase/genetics* ; Male ; Mutation

Objective:To investigate the clinical significance of changes of serum Clara cell secretory protein(CC16) and pulmonary surfactant protein A(SP-A) in neonates with acute respiratory distress syndrome(ARDS).Methods:The data of 30 neonates with ARDS who needed mechanical ventilation in neonatal intensive care unit of Xi′an Children′s Hospital from January 2016 to November 2018 were collected as observation group, including 12 cases in mild group, 10 cases in moderate group and 8 cases in severe group.The data of healthy newborns during the same period were taken as control group.The serum levels of CC16 and SP-A were detected by ELISA.The serum levels of CC16 and SP-A among different groups were compared.Results:The levels of serum CC16 and SP-A in ARDS group were (59.35±3.67)mg/L and(75.38±6.27)mg/L respectively, (11.26±1.32)mg/L and(18.15±2.69)mg/L in healthy group.The difference was significant( P<0.05). And the differences of serum CC16 and SP-A levels among different degree ARDS groups were significant( P<0.05). The levels of serum CC16 in mild, moderate and severe subgroup were(38.27±16.01)mg/L, (51.25±15.63)mg/L, (84.76±13.12)mg/L and SP-A were(47.02±7.18)mg/L, (73.12±7.98)mg/L, (96.45±12.50)mg/L, which increased with disease severity. Conclusion:Serum CC16 and SP-A are increased and correlated with the severity of neonatal ARDS, which may be used as the index for evaluating the severity of neonatal ARDS in the future.

Objective:To study the clinical and genetic characteristics of Wiskott-Aldrich syndrome (WAS) in neonates.Methods:From January 2016 to August 2022, neonates with WAS admitted to the neonatal department of our hospital were studied.Their clinical features, laboratory findings, genetic characteristics and clinical outcomes were retrospectively analyzed.Results:A total of 11 neonates(all male) were included. The mothers of 3 neonates had thrombocytopenia during pregnancy. The presenting symptoms included isolated bloody stool (4 cases), jaundice (3 cases), bloody stool with petechiae, bloody stool with hematemesis, cough and fever(1 case each). Eczema appeared from 6 d to 3 months after birth and in 6 cases during the neonatal period. None of the 11 cases had serious infection during the neonatal period. 9 cases had infection from 8 d to 5 months and 2 cases had not been infected until the last follow-up. Genetic sequencing showed four frameshift variants(c.30dupC, c.205dupT, c.1340_1343dupC and c.673_674delA), four nonsense variants(c.37C>T, c.295C>T, c.889C>T and c.823G>T) and three missense variants(c.134C>T, c.397G>A and c.341T>C). Pedigree verification of variants found 10 cases were inherited from their mothers and 1 case was de novo variant.Conclusions:WAS is characterized by bloody stool and eczema in the neonatal period, mostly without serious infections and lacking specific manifestations. Genetic screening for early identification of unexplained thrombocytopenia in male newborns should be performed as early as possible.

The medical records from 20 pregnant women with pregnancy preservation who underwent only cardiac surgery in our hospital from January 2012 to December 2022 were retrospectively analyzed. The patients were divided into 2 groups according to the fetal outcome: fetal survival group and fetal loss group. Eleven patients were included in fetal survival group and 9 patients in fetal loss group. The overall fetal mortality rate was 45%. In fetal loss group, 2 cases died during operation, and the other 7 cases died at 26 (29) days after operation. The valvular disease and infective endocarditis were the most common heart diseases diagnosed in fetal survival group, while type A aortic dissection in fetal loss group. There were 2 cases and 6 cases with pulmonary hypertension, 2 cases and 3 cases with a history of cardiac surgery, and 3 cases and 5 cases underwent emergency surgery in fetal survival group and in fetal loss group, respectively. Four pregnant women underwent deep hypothermic circulatory arrest in fetal loss group. One patient with type A aortic dissection died 15 days after cardiac surgery, with an overall maternal mortality rate of 5% in fetal loss group. The incidence of adverse events after maternal cardiac surgery was 25%, all of which occurred in fetal loss group. In conclusion, the adverse fetal outcomes may be related to type A aortic dissection, pulmonary hypertension, recardiac surgery, emergency surgery, deep hypothermic circulatory arrest, adverse events after cardiac surgery, and long-term related factors after surgery in pregnant women with pregnancy preservation undergoing cardiac surgery alone.

【Objective】 To explore the effect and mechanism of Fasudil in the treatment of experimental autoimmune myocarditis (EAM) in mice so as to provide a theoretical basis for the clinical use of Fasudil in treating myocarditis. 【Methods】 Balb/c male mice were used as the research objects, and the EAM mice model was constructed using MyHC-α614-629 polypeptide. Mononuclear cells were isolated and cultured to detect the number of mononuclear cells in mouse spleen. Inflammation infiltration, fibrosis and IL-6 expression in mouse myocardial tissue were detected by HE staining, Masson staining and immunohistochemistry, respectively. The protein expressions of Notch1 and IL-6 were detected by Western blotting. qRT-PCR was used to detect the expressions of pro-inflammatory factors (IL-1α, IL-1β and IL-6) as well as key genes of TLRs and NOTCH signaling pathway. 【Results】 EAM mice showed increased HW, decreased BW, increased HW/e-BW, and increased inflammatory infiltration and fibrosis in myocardial tissue. The above-mentioned symptoms or pathological features were improved in EAM mice treated with Fasudil. The analysis showed that the pro-inflammatory factors IL-1α, IL-1β and IL-6 in the myocardial tissue of EAM mice were significantly increased, but only the expression of IL-6 was statistically different after Fasudil treatment compared with the control group. In addition, TLRs signaling pathway might also play an important role in the EAM mice treated with Fasudil. The expressions of IL-6 and Notch1 were consistent, and the expressions of the key genes of NOTCH signaling pathway (Notch1, Hes1 and Jag2) were down-regulated after Fasudil treatment. 【Conclusion】 Fasudil exerts a protective effect on down-regulation of IL-6 expression by inhibiting the NOTCH signaling pathway in EAM mice.