ObjectiveTo explore the clinical features and causative genes of short stature children with unknown etiology， providing evidence for precise clinical diagnosis and treatment. MethodsThe study recruited children with suspected but undiagnosed short stature from the pediatric endocrinology department in our hospital between January 2018 and August 2022. A retrospective analysis was performed on the clinical manifestations， laboratory test and whole exome sequencing （WES） results. Causative genes were classified and analyzed according to different pathogenic mechanisms. ResultsA total of 48 children （30 boys and 18 girls） were enrolled， aged 7.73 ± 3.97 years， with a height standard deviation score （ HtSDS） of -3.63 ± 1.67. Of the patients， 33 （68.8%） suffered from facial anomalies， 31 （64.6%） from skeletal abnormalities， 26 ［54.2%， 61.5% of whom born small for gestational age （SGA）］ from perinatal abnormalities， 24 ［50.0%， 87.5% of whom with growth hormone （GH） peak concentration below normal］ from endocrine disorders and 21（43.8%） had a family history of short stature. Laboratory tests showed that GH peak concentration following stimulation test was （9.72 ± 7.25） ng/mL， IGF-1 standard deviation score was -0.82 ± 1.42， the difference between bone age and chronological age was -0.93 ± 1.39 years. Of the 25 cases with mutant genes found by WES， 14 （56.0%） had pathogenic mutation， 6 （24.0%） likely pathogenic mutation， and 5 （20.0%） mutation of uncertain significance. Pathogenic and likely pathogenic variants were identified in 14 genes， including 10 affecting intracellular signaling pathways （PTPN11， RAF1， RIT1， ARID1B， ANKRD11， CSNK2A1， SRCAP， CUL7， SMAD4 and FAM111A） and 4 affecting extracellular matrix （ECM） components or functions （ACAN， FBN1， COL10A1 and COMP）. ConclusionsA rare monogenic disease should be considered as the possible etiology for children with severe short stature accompanied by facial anomalies， disproportionate body types， skeletal abnormalities， SGA， GH peak concentration below normal and a family history of short stature. WES played an important role in identifying the monogenic causes of short stature. This study indicated that affecting growth plate cartilage formation through intracellular signaling pathways and ECM components or functions was the main mechanism of causative genes leading to severe short stature in children. Further research may help discover and study new pathogenic variants and gene functions.

Objective:To analized brain function monitoring results with amplitude- integrated electroencephalogram (aEEG) in neonatal ward.Methods:The clinical data of 1 370 newborns received aEEG monitoring in Neonatal Department of our hospital from September 2017 to August 2019 were retrospectively analyzed.Results:Among 1 370 neonates undergoing aEEG examination,abnormalities were demonstrated in 308 cases with an overall abnormal rate of 22.5%. The abnormal rate in critical neonates was 27.7% (240/868),while that in non-critical neonates was 13.6% (68/502) (χ2=36.304, P<0.01). Neonates with convulsion had the highest aEEG abnormal rate (57.1%, 16/28), followed by small for gestational age (SGA) (48.8%, 20/41), asphyxia (41.5%, 49/118), premature (31.1%, 92/296)and erythrocytosis (29.7%, 11/37). Among 308 cases of abnormal aEEG, the main types of abnormalities were abnormal background activity in 229 cases (74.4%),insignificant sleep-wake cycles in 139 cases (45.1%) and abnormal original EEG in 117 cases (40.0%). Among 308 cases of abnormal aEEG, 38.0%(117 cases) had corresponding clinical manifestations and 62.0%(191 cases) had no clinical manifestations. The sensitivity of aEEG monitoring is 73.6%(117/159), and the specificity is 84.2%(1 020/1 211). Conclusions:The abnormal rate of aEEG is high in hospitalized neonates,especially in critically ill neonates. It is necessary to carry out routine aEEG examination for hospitalized neonates in order to early detect brain function damage.

Objective:To investigate the present situation of delayed medical care for patients with senile cataract and analyze the influencing factors.Methods:Totally 636 senile cataract patients in Baoji Eye Hospital from January to September, 2017 were recruited. They were investigated using the current status of medical delay questionnaire.Results:The detection rate of delayed medical care for elderly patients with cataract was 36.95%(235/650). Logistic analysis demonstrated that significant influencing factors for patient delay included age, place of residence, educational level, hypertension, diabetes, medical insurance, distance and time for place of residence to the nearest medical unit for elderly cataract patients ( P<0.05) . Conclusion:There are widespread medical delays in elderly cataract patients in Baoji City. We should strengthen health education for elderly cataract patients, provide social support, and develop targeted measures to promote timely medical treatment, reduce blindness and increase quality of life.

Objective To analyze the clinical manifestations and gene mutations of rare causes of primary adrenal insufficiency (PAI) in childhood.Methods The clinical features,laboratory tests and gene mutation of 13 patients with PAI in our hospital from September 2010 to August 2017 were analyzed retrospectively.Patients with congenital adrenal hyperplasia,X-linked adrenoleukodystrophy with neurological onset or a clear family history,and autoimmune adrenal insufficiency were excluded.Results The median age of 13 cases (12 males,1 female) was 3 years and 10 months.Medical history or clinical manifestations on the first visit included hyperpigmentation,electrolyte imbalance/salt-wasting crisis,gastrointestinal symptoms,and fatigue,etc.All developments of external genitalia were normal.All cases presented with decreased serum cortisol and increased ACTH levels.Some of the cases showed decreased aldosterone level and plasma renin activity,while 17α-hydroxyprogesterone,testosterone,and androstenedione were in the normal range.Part of cases revealed delayed bone age and adrenal atrophy.Three gene mutations were detected in 13 patients,including NR0B 1 gene (9/13),ABCD 1 gene (3/13),and CYP 11A 1 gene (1/13).NR0B1,and ABCD1 gene mutations were pathogenic mutations,consistent with clinical characteristics.CYP11A1 gene mutation was heterozygote,which cannot fully explain the clinical features.Conclusion PAI in childhood presents common clinical manifestations of adrenal insufficiency,e.g.hyperpigmentation and electrolyte imbalance/sah-wasting crisis,but without specificity.Gene mutational analysis is necessary for precise diagnosis and prognosis estimation.NR0B1 and ABCD1 gene mutations were common in childhood with rare causes of PAI.

Objective: The purpose of the research was to draw up the questionnaire of the integrated services demand for medicine, pension, rehabilitation and care of community elderly and to provide elderly people with a effective tool for evaluating the needs of medicine, pension, rehabilitation and care. Methods: The theoretical framework of the questionnaire was based on the qualitative interview results of 12 community elderly and community health care workers. A preliminary draft was formed through two rounds of expert consultation and a preliminary survey of 102 elderly people in 3 communities in Taian. Construct validity was used to evaluate the validity of the questionnaire, and Cronbach's alpha coefficient and split half reliability were used to evaluate the reliability of the questionnaire. Results: Sixteen experts were invited to conduct two rounds of consultation on 61 items of the questionnaire. The authoritative coefficient of experts was 0.881, and the positive coefficient of experts was 100%. In the first round, items I-CVI, S-CVI/UA and S-CVI/Ave were 0.68-1.00, 0.72 and 0.83, respectively. Seven items were modified, six items were deleted and three items were added. In the second round, one item was deleted and one item was added, and a questionnaire consisting of seven dimensions and 58 items was formed.7 common factors were extracted from exploratory factor analysis, and the cumulative contribution rate was 63.078%. Finally, 7 dimensions and 51 item questionnaires were formed. Each dimension is the community public health service and general services, health education, pension services, rehabilitation services, family beds, service charges The total Cronbach's alpha coefficient was 0.919, the Cronbach' s alpha coefficient of each dimension was 0.615-0.808, the retest reliability coefficient of the total questionnaire was 0.862.and the Guttman half coefficient is 0.865. The total questionnaire CVI was 0.85 and the item CVI was 0.80-1.00. Item analysis showed that the correlation coefficients of the 7 items were lower than 0.3, and the rest were all between 0.3~0.7, and were significantly correlated at P<0.05 level. Conclusion The questionnaire of the integrated services demand for medicine, pension, rehabilitation and care of community elderly had good reliability and validity, and it could be used to evaluate the needs of medicine, pension, rehabilitation and care in the elderly.

Objective: To explain the true experience of death anxiety in elderly inpatients with chronic diseases, and provide a theoretical basis for hospice care. Methods: The phenomenological study method was used to deeply interview the true feelings of death anxiety in 13 elderly inpatients with chronic diseases. Results: Through analysis, collation and refinement, the five themes of death anxiety, life regret, death attitude, death reminder and final decision power. Conclusions As clinical medical workers, we must always pay attention to the death anxiety of elderly inpatients with chronic diseases and strengthen the assessment of death anxiety. In particular, patients with cancer and patients at the end of life are provided with personalized care to remind them of the meaning of life and reduce the anxiety level of death.

Objective To explore the status and influencing factors of the integrated service needs of medicine, pension, rehabilitation and care of the community elderly in order to provide a theoretical basis for the construction of an old-age service model in line with the national conditions. Methods A total of 330 elderly people from three communities in Tai'an were selected and investigated by self-made questionnaire of the integrated services needs for medicine, pension, rehabilitation and care of community elderly. Results Nearly 83.54％(259/310) of the elderly had moderate and above pension needs, and the first three were rehabilitation services, family beds and community public health services. Age, educational level, self-rated health and number of chronic diseases were the influencing factors of the integrated service needs of medicine, pension, rehabilitation and care(t =2.374-4.844, all P<0.05). Conclusions The majority of elderly people have the moderate and above health care integration service demand, the elderly have the highest demand for rehabilitation services. Age, education, self-rated health status and the number of chronic diseases have different influence on the needs of the elderly;government, society, education and medical treatment institutions interdisciplinary multi linkage, and strengthen the professionals training of health, rehabilitation, health care, in order to explore the best old-age service model in line with national conditions.

Objective To explore the effects of Toddalia asiatica extract(TAE)on inflammatory cytokines in rats with myocardial ischemia and hyperlipidemia. Methods The early changes of hyperlipidemia were caused by feeding high fat diet for 4 weeks. Fifty male SD rats were randomly divided into 5 groups:the control group,model group,simvastatin group(3.5 mg/kg),high-dose TAE group(280 mg/kg)and low-dose TAE group(70 mg/kg). At the end of the 4-weeks treatment,isoprenaline hydrochloride(Iso)was subcutaneous injected once a day for consecutive three days. The electrocardiogram(EKG),the heart,liver and fat indexes,the serum levels of TC,TG,HDL,LDL,TNF-α,INF-γ,IL-6 and IL-10, and the pathological changes of myocardium were examined. Results TAE significantly improved the Iso-induced EKG changes in rats,reduced the heart,liver and fat indexes,and decreased the levels of TC,TG,LDL,TNF-α,INF-γ and IL-6 and increased the contents of HDL and IL-10(P< 0.05 for all),and improved the pathological damages of myocardium. Conclusions The Miao nationality medicine Toddalia asiatica extract may play an important protective role in cardiovascular diseases by regulating the balance of anti-inflammatory and proinflammatory cytokines.

Objective To investigate the changes of thyroid autoantibody(TAA)in children with Turner syndrome(TS),and its association between TAA and thyroid dysfunction,age,karyotype and dyslipidaemia.Methods Thirty-two patients with TS diagnosed by chromosome analysis hospitalized at Sun Yat-Sen Memorial Hospital,Sun Yat-Sen University from July 2007 to July 2015 were divided into 2 groups based on TAA-positive or TAA-negative,then the thyroid dysfunction,the age,the karyotype and the lipid metabolism were compared between 2 groups.Results Of the 23 cases of TAA-positive girls(23/32 cases,71.88％),9 girls(39.13％)suffered from thyroid dysfunction;of the 9 cases of TAA-negative girls(9/32 cases,28.12％),3 girls(33.33％)had thyroid dysfunction.As compared with the girls in TAA-negative group,the age in TAA-positive group was significantly higher[(12.08±2.90)years old vs.(8.89±4.17)years old],and the difference was significant(t=101.500,P=0.047).The patients were divided into 4 age groups:0-5 years old,>5-10 years old,>10-15 years old and >15 years old;the rates with TAA-positive were 25.00％(1/4 cases),75.00％(6/8 cases),82.35％(14/17 cases)and 66.67％(2/3 cases)respectively.Twenty patients received the lipid metabolism test,and 11 cases(11/20 cases,55.00％)of them suffered from dyslipidaemia,9 cases of them were TAA-positive(9/11 cases,81.82％),and 2 cases were TAA-negative(2/11 cases,18.18％).The differences in the prevalence of dyslipidaemia between the 2 groups were significant(x2=4.848,P=0.028).There was no significant difference in the numbers of TAA-positive cases among different karyotypes(x2 =4.246,P=0.120).Conclusions Patients with TS are prone to suffer from thyroid dysfunction and dyslipidaemia.Timely detection of TAA and thyroid function is recommended,as well as the lipid metabolism if necessary.

ObjectiveTo investigate the effects of prenatal taurine supplementation on the Rho-ROCK signaling pathway activity and synaptophysin (Syp) expression in brain tissues of rats with intrauterine growth restriction.MethodsEighteen pregnant Sprague-Dawley rats were randomly divided into control group, fetal growth restriction (FGR) group and taurine group, with six rats in each group. Low-protein diet was given in FGR and taurine groups to establish an FGR model. Taurine 300 mg/(kg·d) was supplemented from gestational day 12 until delivery in taurine group. The mRNA expression levels of neurite growth inhibitor-A(Nogo-A), neurite growth inhibitor receptor (NgR), Rho-A and ROCKⅡin fetal rat brain were detected using reverse transcriptase polymerase chain reaction (n=24), which are the key signaling molecules of the Rho-ROCK signal pathway. The protein expression levels of Nogo-A and NgR were detected by Western blot (n=12). The mean optical density in Nogo-A, NgR and Syp was determined by immunohistochemistry (n=18). One-way analysis of variance and LSD-t test were used for statistical analysis.Results(1) Expression of mRNA: the expression levels of Nogo-A, NgR, Rho-A and ROCKⅡ mRNA in fetal rat brain were 4.09±1.34, 3.01±0.77, 39.89±7.71 and 7.82±1.83, respectively in FGR group, and were significantly higher than in control group (1.00±0.13, 1.00±0.10, 1.02±0.30 and 1.00±0.10) (t=4.735, 5.204, 7.682 and 10.675, allP<0.05). The expressions in taurine group (1.07±0.30, 1.20±0.27, 5.36±0.41 and 1.89±0.43) were significantly lower than in FGR group (t=4.645, 4.690, 6.687 and 9.485, allP<0.05), and there was no statistical difference between taurine group and control group (allP>0.05). (2) Expression of protein by Western blot: the expressions of Nogo-A and NgR protein in fetal rat brain were 1.51±0.09 and 0.31±0.05 in FGR group, 0.82±0.06 and 0.06±0.01 in taurine group, and 1.04±0.10 and 0.09±0.12 in control group. The expression was significantly higher in FGR group than in control group (t=9.644 and 5.285, bothP<0.05). The expression was significantly lower in taurine group than in FGR group (t=14.163 and 5.825, bothP<0.05), and there was no statistical difference between taurine group and control group (allP>0.05). (3) Positive expression of protein: the positive expressions of Nogo-A and NgR protein in fetal rat brain were 0.28±0.06 and 0.11±0.02 in FGR group, 0.10±0.02 and 0.04±0.01 in taurine group, and 0.07±0.01 and 0.04±0.01 in control group. The expression was significantly higher in FGR group than in control group (t=9.778 and 7.645, bothP<0.05). The expression in taurine group was significantly lower than in FGR group (t=8.679 and 7.413, bothP<0.05), and there was no statistical difference between taurine group and control group (bothP>0.05). The positive expression of Syp protein in fetal rat brain was 0.08±0.01 in FGR group, and was significantly lower than in control group (0.16±0.04,t=4.600,P<0.05). The expression in taurine group (0.14±0.36) was significantly higher than in FGR group (t=3.181,P<0.05), and there was no statistical difference between taurine group and control group (P>0.05).ConclusionsPrenatal taurine supplementation can improve neural axon development via down-regulating the expressions of the key molecules of Rho-ROCK signal pathway in fetal rat brain tissue.