Objective To investigate the in-hospital screening results of developmental dysplasia of the hip (DDH) in infants and young children in Ili area, and to analyze the risk factors affecting the occurrence of DDH. Methods According to the cluster sampling method 5 536 infants and young children who underwent DDH screening in the pediatric outpatient department and orthopedic outpatient department of our hospital from December 2019 to June 2022 were selected as the research objects. The children who met the diagnostic criteria of DDH were selected as the observation group (n=35), and 100 normal children were selected as the control group. Univariate and multivariate analysis were used to determine the independent risk factors affecting the occurrence of DDH in infants. Results Among the 39 cases were positive in primary screening, 35 cases were positive in secondary screening, and the positive rate was 6.32‰ . The results of single factor analysis showed that the proportion of women, second birth and above, caesarean section, breech delivery, family history, high altitude area, living environment room temperature < 18^°C, and leg binding when swaddling in the observation group was higher than that in the control group (P<0.05) . Logistic regression analysis showed that mode of production, region, room temperature of living environment and swaddling mode were independent risk factors for DDH in infants (P<0.05). Conclusion Caesarean section, high altitude area, living environment room temperature < 18^°C and leg binding in infants are related to the occurrence of DDH in infants, which can provide some reference for clinical screening, diagnosis and treatment.

Objective·To investigate the imaging features of computed tomography(CT)and magnetic resonance imaging(MRI)in the patients with Kimura disease(KD)in the head and neck.Methods·Sixty-four cases of KD in the head and neck comfirmed by histopathology were retrospectively collected from 2009 to 2023 in Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine.All patients completed CT and/or MRI enhancement imaging before surgery.Clinical and imaging characteristics were collected,recorded and analyzed,including age,gender,peripheral blood eosinophilic ratio,serum IgE level,the lesion location,shape,size,CT density and degree of enhancement,MRI signal intensity and degree of enhancement,apparent diffusion coefficient(ADC),time-signal intensity curve(TIC)patterns,wash-in rate,and time to peak(TTP).Results·The average age of the 64 KD patients was(40±19)years,and 92.2%were males.A total of 73.5%of the patients showed an elevated ratio of peripheral blood eosinophil,and all 10 tested patients exhibited increased serum IgE levels.There were 82 extranodal(subcutaneous and glandular)lesions and 144 lymph node lesions detected by CT and MRI.Among the extranodal lesions,80.5%were subcutaneous or glandular patchy lesions with unclear boundaries,and the rest were nodular lesions with clear boundaries.All lesions exhibited isodensity on CT scans and showed isointensity on T1-weighted imaging(T1WI)and hyperintensity on T2-weighted imaging(T2WI)in MRI.Most extranodal lesions tended to show heterogeneous enhancement,while most lymph node lesions showed homogeneous enhancement.The median ADCs of the extranodal lesions and the lymph node lesions were 1.04×10-3 mm2/s and 0.67×10-3 mm2/s,respectively,which were significantly different(P=0.000).The dynamic contrast-enhanced magnetic resonance imaging(DCE-MRI)results showed that the TIC patterns of extranodal lesions were predominantly type Ⅰ andⅡ,accounting for 57.5%and 42.5%,respectively;while the TIC patterns of lymph node lesions were predominantly type Ⅱ(96.6%).The difference in the TTP and the wash-in rate between the extranodal lesions and the lymph node lesions were both statistically significant(P=0.000).Conclusion·Extranodal lesions and lymph node lesions of KD both show isodensity on CT,and isointensity on T1WI and hyperintensity on T2WI in MRI.Extranodal lesions often show high ADC,TIC type Ⅰ or Ⅱ,and mostly heterogeneous enhancement;lymph node lesions often show low ADC,TIC type Ⅱ,and mostly homogenous enhancement.

Objective:To evaluate the effect of inhaled medication compliance intervention in elderly patients with chronic obstructive pulmonary disease (COPD) based on integrated theory of health behavior change.Methods:A total of 117 elderly COPD patients who visited Respiratory Department of Beijing Chaoyang Hospital Affiliated to Capital Medical University from July to December 2021 were selected by the convenient sampling method. According to the random number table method, they were divided into the experimental group and the control group. 7 cases fell off during follow-up, and a total of 110 cases were finally included in the study, of which 55 cases were in the experimental group and 55 cases in the control group. The control group adopted the conventional health education method, while the experimental group adopted the intervention plan of inhalation medication compliance of elderly COPD patients based on the integrated theory of health behavior change. The accuracy of inhalation device use, inhalant medication compliance, forced expiratory volume in the first second (FEV 1) and Chronic Obstructive Pulmonary Diseases Assessment Test (CAT) scores were compared between the two groups before intervention and 3 months after intervention. Results:After 3 months of intervention, the inhalation device use accuracy, inhalation medication compliance in experimental group were higher than those in the control group, the score of CAT in experimental group was lower than that in the control group, the differences were statistically significant ( P<0.05). There was no statistically significant difference in FEV 1 between two groups ( P>0.05) . Conclusions:The intervention plan for inhalation medication compliance in elderly patients with chronic obstructive pulmonary disease based on the integrated theory of health behavior changes can improve their inhalation medication compliance and improve their quality of life.

OBJECTIVE: To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD). METHODS: Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing. RESULTS: Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene. CONCLUSION The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.
Asians/genetics* ; China ; Female ; Glycosylation ; Humans ; Male ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective:To construct an index system for evaluating the development of research-oriented disciplines in medical institutions, and to provide a basis for guiding the superior disciplines towards international high-level disciplines.Methods:Through literature research and expert discussions, the basic framework of the research-oriented disciplines development evaluation system was established. The final version of the index system was determined using the Delphi method and expert interviews, and the weights of each index were established using the hierarchical analysis method.Results:After consultation, the framework of 5 first-class indexes, 16 second-class indexes, and 51 third-class indexes was finally constructed for the evaluation system of research-oriented discipline development, and the weights of indexes at different classes were calculated. The high-frequency terms " research mechanism construction" , " research team construction" and " representative research results" extracted from the expert interviews echoed the results of the weighting calculation.Conclusions:The evaluation system for research-oriented disciplines constructed in this study is relatively reasonable, scientific, reliable, and operable. The construction of the index system adapts to the characteristics of the development of research-oriented disciplines, with guiding significance for enhancing the development of research-oriented disciplines.

Objective : To explore the effect of C2 ⁃ceramide , one of the sphingomyelin substances , on apoptosis of non⁃small cell lung cancer cells( A549 and PC9) . Methods : Non⁃small cell lung cancer cell lines ( A549 and PC9) were cultured , total proteins were extracted and Western blot was performed to detect the expression of apoptotic protein Caspase⁃3 and cleaved Caspase⁃3 in the two cells. CCK⁃8 colorimetric method was used to screen drug concentration. Hoechst 33258 apoptosis staining was used to detect apoptosis. The apoptosis rate was detected by flow cytometry , and the expression of apoptotic protein Caspase⁃3 was detected by RT⁃PCR. Results : The cell viability was about 70% when ceramide was treated at 50 μmol/L. Compared with the control group , the expression of apoptotic proteins increased in the ceramide group (P < 0. 05) . Flow cytometry and apoptosis staining showed that the rate of apoptosis increased in the ceramide treatment group compared with the control group (P < 0. 05) . mRNA detection at gene level showed increased the expression of apoptotic protein Caspase⁃3 (P < 0. 05) . Conclusion C2 ⁃ceramide can promote the apoptosis of non⁃small cell lung cancer cells , thus providing a new therapeutic tar⁃ get for clinical lung cancer chemotherapy.

With the effective control of viral hepatitis around the world, nonalcoholic steatohepatitis (NASH) will become the main cause of liver transplantation in the next ten years. There is a huge number of NASH patients, but currently no drug has been approved by authorities, which represents a large unmet need in clinical practice. The complex pathogenesis of NASH, heterogeneity of this disease, difficulties in diagnosis, and selection of treatment endpoints have brought great challenges to the research and development of new drugs.

Objective To analyze of the prevalence of encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) and noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) by 2017 World Health Organization ( WHO) classification of tumors of endocrine organs in Guiyang. Methods A retrospectively analysis of patients who had a thyroid surgery and confirmed thyroid cancer by pathological diagnosis in the Affiliated Hospital of Guizhou Medical University from 2009 to 2016. PTC and FVPTC by 2014 WHO classification of tumors of endocrine organs , and according to the 2017 WHO classification of tumors of endocrine organs ,the thyroid papillary carcinomas were reviewed and some had been confirmed as EFVPTC and NIFTP, with analysis of the prevalence and prognosis of NIFTP. Results Of the 1207 cases of thyroid carcinoma, 1150 cases were papillary carcinoma, the constituent ratio of thyroid carcinoma was 95.28％, the FVPTC was 72 cases, and the proportion of thyroid carcinoma was 5. 97％; the proportion of FVPTC in thyroid carcinoma decreased from 2009 to 2016 ( P <0.05). After pathological sections being reviewed, 10 cases had been confirmed as non-encapsulated infiltrative FVPTC, the ratio of thyroid cancer to thyroid cancer was 0.83％; EFVPTC was found in 62 cases, accounting for 5.14％ of thyroid carcinoma, these included 2 cases of NIFTP confirmed by the 2017 WHO classification of tumors of endocrine organs and 60 cases encapsulated invasive FVPTC, the percentage of thyroid carcinoma was 0.17％ and 4.97％. 62 cases of EFVPTC with the exception of 11 cases without further visit, while the remaining 51 cases of EFVPTC were followed up. Death, local or distant metastases were defined as adverse events. An adverse event was seen in 11 of 49 of the cases of invasive EFVPTC, including 2 died of disease; The NIFTP were alive with no evidence of disease. Conclusion The diagnosis of NIFTP according to new WHO classification of endocrine organ tumors in 2017 has little expected impact in Guiyang.

Objective To investigate the clinical features, electrophysiological characteristics and treatment of stiff-person syndrome (SPS). Methods Medical records were retrospectively collected from 8 SPS patients to analysis their clinical features, laboratory studies, electromyography characteristics and treatment effect. Results All 8 patients presented with classic SPS, experienced progressive muscle stiffness, rigidity and spasm with paroxysmal exacerbation, which most frequently involved the thoracolumbar paraspinal muscles and bilateral lower limbs and other parts of body including thoracic and abdominal wall, upper limbs, neck, head and face. Five patients underwent electromyography and the results showed continuous motor unit activity (CMUA) in the involved muscles at rest. CMUA reduced markedly in 2 cases after intravenous diazepam. Anti-glutamic acid decarboxylase (GAD) antibody testing was positive in one of 5 tested cases. All 8 patients experienced partially symptomatic relief for their muscle rigidity and spasm after benzodiazepines. Combined immunotherapy further attenuated the symptoms in two cases receiving intravenous immunoglobulin (IVIG) and one case receiving glucorticosteroids, respectively. Symptoms were completely relieved following thymectomy in 2 cases with thymoma. Conclusion SPS is characterized by progressive muscle stiffness, rigidity and spasm with paroxysmal exacerbation affecting the axial trunk and bilateral lower limbs most frequently. Electromyography indicates CMUA in these involved muscles at rest. Treatment with benzodiazepines combined with immunotherapy can improve the neurological manifestations. Thymectomy can completely relieve symptoms of SPS in patiens with thymoma.

Objective To observe the time characteristics of acute aortic dissection (AAD) in Urumqi and its peripheral areas in Xinjiang Uygur autonomous region, and to explore the effect of meteorological conditions on the onset of AAD.Methods Retrospective analysis of the related data of the adult AAD patients diagnosed by imaging examination, and admitted to the First Affiliated Hospital of Xinjiang Medical University from March 2010 to July 2016 was performed. The onset time, the contemporaneous meteorological data, including daily minimum, average, and the highest temperature, daily average air pressure, daily average relative humidity, daily precipitation, daily average wind speed, daily maximum wind speed, and sunshine duration per day were collected. Analysis of concentrated distribution trend of the AAD onset was done by circular distribution statistics. Meteorological conditions were compared between the AAD day and no AAD day. The changes of air temperature 5 days before onset were observed.Results A total of 379 patients were enrolled, with 307 male and 72 female. The ratio of male to female was 4.19:1, the average age was 52.27±12.18; and the underlying diseases was hypertension (about 58.05%); the incidence sites were Urumqi and Changji city. ① The incidence of AAD in Urumqi and its peripheral areas had clear concentrated trend, and the peak period of AAD corresponded to January 1st to 2nd (homogeneity testr = 0.104,r0.05 = 0.009,P < 0.05). ② The minimum, mean and maximal atmospheric temperatures on the AAD day were lower than no AAD day [℃: 4.10 (-9.55, 14.60) vs. 7.75 (-6.70, 16.20), 14.10 (-1.50, 25.00) vs. 17.50 (0.60, 26.78), 8.50 (-6.22, 19.45) vs. 12.10 (-3.60, 20.90), allP < 0.05], sunshine duration was significantly shorter than no AAD day [hours: 8.50 (4.60, 10.70) vs. 8.90 (5.50, 11.50), P< 0.01], and atmospheric pressure were higher than no AAD day [kPa: 91.24 (90.66, 91.75) vs. 91.12 (90.62, 91.61), 19.11 (18.99, 19.22) vs. 19.09 (18.98, 19.19), bothP < 0.05]; there were no significant differences in the incidence of daytime temperature difference, average relative humidity, precipitation, average wind speed, and maximum wind speed between the two groups. ③ the peak period of AAD occurrence was December (38 cases), which was followed by January (36 cases); and there were 26 cases of each month in May, June, July, and September, which were lower than the rest of months. It was shown by the temperature distribution that the minimum average temperature was in January (-12.46 ℃), followed by December (-9.03 ℃); the maximum average temperature was in July [(24.59±3.21)℃], followed by August [(23.14±3.64)℃]. ④ The patients was sorted according to the quartile of daily mean temperature, into < -5.2 ℃, -5.2-10.7 ℃, 10.7-20.4 ℃, and > 20.4 ℃ groups, and each group had 104, 99, 98, 78 cases of AAD, respectively. The number of AAD in lowest temperature group was 1.33 times of the highest temperature group. In the 45-59 and 60-74 years, the number of AAD in lowest temperature group was higher than that in the highest temperature group (50 vs. 36, 26 vs. 13). In patients with hypertension, the number of AAD in lowest temperature group was higher than that in the highest temperature group (60 vs. 44). ⑤ The maximum air temperature, mean air temperature of the day from 5 days before to the onset day of AAD, and the lowest temperature from 3 days before to the onset day of AAD display slowly decrease trends, but there was no significant difference in daily temperature.Conclusions The incidence of AAD in Urumqi and its peripheral areas was concentrated from January 1st to 2nd of each year. When the temperature was lower than -5.2 ℃, AAD were more likely to attack. The 5 days changes of temperature and daily temperature before the attack were relevant with onset of AAD. It was speculated that the weather conditions such as air temperature may affect patient who has a past history of cardiovascular disease to attack AAD.