Objective To study the association between sympathetic skin response (SSR) and diabetic neuropathy,and explore its use as the objective base for its early diagnosis. Methods The latencies and amplitudes of the initiation,waves N and P in SSR of the extremities in 80 diabetic patients and 30 healthy controls were determined using electrophysiological measurements. Results The latencies of the initiation,waves N and P of SSR test were prolonged significantly in the diabetic patients as compared to the controls ( P 0.05). All but two patients (97.5%) demonstrated abnormal SSR in at least one limb. Seven patients (8.8%) had no responses in SSR in both the feet and hands. The frequency of abnormality in the latency of initiation and waves N and P was 86.9%(139/160)in the upper limbs,and 89.4%(143/160)in the lower limbs. Conclusions The SSR can detect the early dysfunction of the small sympathetic fibers in diabetes millitus and may be a useful electrophysiologic testing for the early diagnosis of diabetic neuropathy.

Objective:To investigate the effect of nimodipine on the cognitive ability of the Alzheimer disease (AD) patients and to presume its mechanism.Method:60 patients with AD received their examinations and treatments in our hospital from January to December,2006.The data included the patients' disease histories,physical examinations and radiological checks.All the patients were randomly divided into two groups,Nimodipine group ( N group) and controlled group (C group).N group was given nimotop 30mg tid orally,while C group was treated with neuroxin 200mg tid.The pa- tients' cognitive and daily life abilities were accessed by MMSE and ADL in the first day and the twelfth week from the be- ginning of the treatment.All the data were analyzed by SPSS 10.0.Result:Compared with those of the controlled group, the cognitive and daily living abilities of N group patients' were improved significantly in 12 weeks after the treatment by ni- modipine (P

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 investigate the significance of quantitative thermal testing (QTT) in the diagnosis of diabetic peripheral neuropathy. Methods One hundred and sixty-nine diabetic patients with neurological deficit (DM group) and 53 age-matched healthy controls underwent the determination of cold threshold (CT), warm threshold (WT), clod pain threshold (CPT), warm pain threshold (WPT) in both dorsum of hand and dorsum of foot. DM group were divided into subgroups with a course of disease > 5 years or with a course of disease ≤ 5 years, or divided into subgroups with normal or abnormal nerve conduction study (NCS). Results CT and WT of DM group with a course of disease ≤ 5 years ((29.6 ± 1.4), (26. 5±4. 3) ℃ ; (35.9±3.0), (41.3±4. 0) ℃) were higher than the health controls' ((30. 2±1.2), (29.1±1.5) ℃; (35.0±1.9), (36.5±1.5) ℃, respectively; t=3.27, 6.63, 2.80, 8.61, all P< 0. 05). The CT and WT of DM group with a course of disease > 5 years' ((28. 2±4. 0), (23. 1 ±7.9) ℃ ; (37.0±4. 7), (42. 6±4. 2) ℃, respectively) were higher than the DM group with course of disease≤ 5 years(t =4. 09, 4.63, 2.55, 2. 68 ,all P <0. 05). CT and WT of the normal NCS group((29. 5 ± 1.8), (27.0±4. 6) ℃ ; (35.0±1.9), (40. 9±3. 8)℃, respectively) were higher than the healthy controls' , and the difference was significant(t =3.22, 4. 17, 3.51,9. 95,all P<0.01). The frequency of abnormal QTT in DM group was higher than that of NCS in DM group. The QTT and NCS of DM group with a course of disease >5 years were higher than these in DM group with a course of disease ≤5 years; the frequency of abnormal WT in DM group(86. 4% ,146/169)was higher than that of CT in DM group(68. 1% ,115/169,x2=15.49, P<0.01), the frequency of abnormal QTT in the dorsum of foot in DM group was higher than that in the dorsum of hand in the DM group. PT of diabetic patients were higher than that in the healthy controls. Condusions QTT is more sensitive than NCS in the diagnosis diabetic peripheral neuropathy, which is neeossary to assist NCS when diabetic peripheral neuropathy is suspected, WT in dorsum of foot is a sensitive parameter in the diagnosis of diabetic peripheral neuropathy.

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.

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 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 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 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.