Objective:To explore the clinical, imaging, and genetic characteristics of an adult patient with sporadic Neuronal intranuclear inclusion disease (NIID).Methods:A patient who had visited the First People′s Hospital of Chenzhou on August 6, 2023 was selected as the study subject. Results of clinical examination, neuroimaging, and genetic testing were retrospectively analyzed along with a literature review. The number of GGC trinucleotide repeats in the 5′-untranslated region of the NOTCH2NLC gene was determined by GC-PCR. Results:The patient had presented with episodic encephalopathy, with enhanced magnetic resonance imaging showing enhancement features of the posterior cerebral cortex during the period of acute episode. Genetic testing revealed an increased number of GGC repeats ( n = 97) in the 5′- untranslated region of the NOTCH2NLC gene, which confirmed the diagnosis of NIID. Conclusion:Clinical attention should be paid to the enhanced MRI findings of patients with adult-onset NIID, for whom posterior cortical enhancement may be characteristic manifestation during the acute phase of encephalopathy-like episode.

Objective:To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms.Methods:A patient who was admitted to the Department of Neurology of Jing′an District Central Hospital on February 24, 2021 was selected as the study subject. Clinical data, laboratory tests, muscle pathology, muscle magnetic resonance imaging (MRI) and genetic testing of the patient were retrospectively analyzed.Results:The patient had developed myalgia after lower limb activity, and gradually developed asymmetrical muscle weakness and atrophy of the lower limbs. Cardiac examination revealed atrioventricular block and decreased left ventricular diastolic function. Muscle MRI showed that semitendinosus, sartorius, gracilis, fibula, gastronemius and supinator muscles were selectively involved at the early stage. Muscle biopsy confirmed pathological changes of desmin positive myofibrils. Genetic testing revealed that the patient has harbored a c. 1024A>G (p.n342d) missense variant in exon 6 of the DES gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PS4_moderate+ PM2_supporting+ PP3_moderate+ PP1). Conclusion:Desmin disease has a great clinical heterogeneity. Postexercise myalgia of lower limbs is a rare clinical phenotype. For patients harboring the c. 1024A>G (p.n342d) variant of the DES gene, in addition to semitendinosus and fibula, Cardiac involvement is relatively insidious and easy to be ignored in clinic. Timely muscle MRI, muscle biopsy and gene detection will help the early diagnosis of the disease.

Objective:To explore the clinical and imaging characteristics of patients with unruptured intracranial aneurysms accompanied by sentinel headache.Methods:Forty patients with unruptured intracranial aneurysms confirmed by DSA/CTA and accompanied by sentinel headache admitted to Department of Neurology, First Affiliated Hospital of Xiangnan University from January 2018 to August 2023 were selected as the study subjects; the clinical and imaging characteristics of these patients were summarized. Forty-four patients with unruptured intracranial aneurysms without sentinel headache and 40 patients with subarachnoid hemorrhage caused by ruptured intracranial aneurysms admitted to the hospital at the same period were selected as controls. The differences in aneurysm length (maximum diameter), morphology, tumor length (maximum diameter)/neck width (AR), and risk score for rupture of intracranial aneurysms (scores of population, hypertension, age, size of aneurysm, earlier aneurysm rupture, site of aneurysm [PHASES]) among the 3 groups were analyzed.Results:Among the 40 patients with unruptured intracranial aneurysms accompanied by sentinel headache, 20 (50%) presented with pain localized at the lateral frontal and orbital regions, 3 (7.5%) with pain at the posterior neck region, and 17 (42.5%) with irregular headache sites; 34 (85%) had new onset headache, and 6 (15%) had changes in headache nature besides chronic headache; 24 patients (60%) had posterior communicating artery aneurysm, 12 (30%) had internal carotid artery aneurysm, 1 (2.5%) had middle cerebral artery aneurysm, and 3 (7.5%) had vertebral artery dissection aneurysm; 36 (90%) had irregular aneurysm morphology. Compared with patients with unruptured intracranial aneurysms without sentinel headache, patients with unruptured intracranial aneurysms accompanied by sentinel headache and those with subarachnoid hemorrhage caused by ruptured intracranial aneurysms had larger aneurysm length (maximum diameter), higher proportion of irregular morphology, higher AR value, and higher PHASES scores, with significant differences ( P<0.05). Compared with patients with subarachnoid hemorrhage caused by ruptured intracranial aneurysms, patients with unruptured intracranial aneurysms accompanied by sentinel headache had larger aneurysm length (maximum diameter) and higher PHASES scores, with significant differences ( P<0.05). Conclusion:Sentinel headache is common in patients with unruptured posterior communicating artery aneurysms, and the relatively specific headache pattern is sudden periorbital pain or posterior neck pain; patients with unruptured intracranial aneurysms accompanied by sentinel headache have a higher rupture risk due to the larger size, more irregular shape, higher AR value of the aneurysm, therefore, same attention should be payed to these patients as those with ruptured aneurysms in clinical practice.

ObjectiveTo investigate the factors that influence the first CD4+T lymphocyte counts in newly reported HIV-infected cases aged 50 and above in Dehong Prefecture of Yunnan Province during 2016 to 2021， and to understand the patient immune status and disease progression so as to provide scientific basis for HIV prevention and control strategies in the future. MethodsData was collected from the national HIV/AIDS information system. Multivariate logistic regression was used for the analysis of factors affecting the first CD4+T lymphocyte counts. ResultsA total of 642 cases of HIV infection were newly reported， among them， 571 cases had CD4+T lymphocyte counts and 200 cases （35.03%） had CD4+T lymphocyte counts <200 cells·μL^-1. Patients who were in the 50-59 age group， male， divorced or widowed， and less educated were more likely to have CD4+T lymphocyte counts <200 cells·μL^-1. Compared with active testing consultants， forced reeducation through labor or drug rehabilitation cases were less likely to have CD4+T lymphocyte counts <200 cells·μL^-1. ConclusionThere is no obvious upward trend in newly reported HIV infected persons aged 50 years and above in Dehong Prefecture during 2016 to 2021. However， the situation of CD4+T lymphocyte counts <200 cells·μL^-1 is still serious. Attention should be paid to the key groups： male， Chinese nationality， farmers， Han nationality， married or divorced， junior high school education or below， and heterosexual transmission. It is necessary to strengthen the intervention in people aged 50 and above and improve the detection efficiency.

For wild natural medicine, unanticipated biodiversity as species or varieties with similar morphological characteristics and sympatric distribution may co-exist in a single batch of medical materials, which affects the efficacy and safety of clinical medication. DNA barcoding as an effective species identification tool is limited by its low sample throughput nature. In this study, combining DNA mini-barcode, DNA metabarcoding and species delimitation method, a novel biological sources consistency evaluation strategy was proposed, and high level of interspecific and intraspecific variations were observed and validated among 5376 Amynthas samples from 19 sampling points regarded as "Guang Dilong" and 25 batches of proprietary Chinese medicines. Besides Amynthas aspergillum as the authentic source, 8 other Molecular Operational Taxonomic Units (MOTUs) were elucidated. Significantly, even the subgroups within A. aspergillum revealed here differ significantly on chemical compositions and biological activity. Fortunately, this biodiversity could be controlled when the collection was limited to designated areas, as proved by 2796 "decoction pieces" samples. This batch biological identification method should be introduced as a novel concept regarding natural medicine quality control, and to offer guidelines for in-situ conservation and breeding bases construction of wild natural medicine.

Objective:To investigate the clinical and imaging features of spontaneous convexal subarachnoid hemorrhage (cSAH) with acute cerebral infarction.Methods:Nine patients with cSAH complicated with acute cerebral infarction, admitted to our hospital from January 2018 to October 2021, were selected. The clinical data and efficacy of these patients were retrospectively analyzed.Results:The time from cSAH to the onset of acute cerebral infarction was 5-144 h, with median time of 2 d. The most common bleeding site of cSAH was the parietal lobe ( n=6); cSAH in the ipsilateral side of acute cerebral infarction was noted in 4 patients. Six patients had middle cerebral artery stenosis or occlusion, and 2 patients had anterior cerebral artery stenosis or occlusion. Hypertension ( n=7) was the most common primary disease; 7 patients were treated with antiplatelet drugs, anticoagulants and/or stents. The follow-up at 3 months after cSAH showed that 6 patients had good prognosis and one had poor prognosis. Conclusions:The cSAH often occurs 2 d after acute cerebral infarction; intracranial artery stenosis or occlusion may be the main cause of the disease. In patients complicated with cSAH, active antiplatelet, anticoagulation and/or stent therapy do not increase the risk of bleeding, and the prognosis is good.

Objective:To investigate the distribution and morphological characteristics of brain magnetic resonance imaging (MRI) lesions in patients with myelin oligodendrocyte glycoprotein (MOG) antibody related demyelinating diseases and aquaporin-4 (AQP4) antibody positive neuromyelitis optica spectrum disorders (NMOSD) and their clinical value in early diagnosis.Methods:A total of 35 patients with MOG antibody related demyelinating diseases [20 males and 15 females; aged 31 (25, 43) years] and 36 patients with AQP4 antibody positive NMOSD [3 males and 33 females; aged 42 (29, 54) years] were collected retrospectively from September 2018 to June 2021 in Chenzhou First People′s Hospital and the Affiliated Hospital of Qingdao University which were classified as MOG group and AQP4 positive group respectively. All patients underwent routine cranial MRI scanning before treatment and the location, shape and quantity of intracranial lesions were recorded. Wilcoxon rank sum test was used to compare the number of different types of lesions between the two groups. Logistic regression analysis was used to evaluate the significance of different lesions for the two diseases.Results:There were 7 types of lesions with significant differences in different parts and shapes. Stepwise Logistic regression showed that cortical and juxtacortical lesions ( OR=21.91, 95% CI 3.09-61.69, P<0.05) and infratentorial peripheral white matter lesions ( OR=10.48, 95% CI 2.00-18.89, P<0.05) were the most important risk factors in the MOG group. The incidence of cortical and juxtacortical lesions in the MOG group was 51.4% (18/35), which was higher than that in the AQP4 positive group (2.8%, 1/36; χ2=19.02, P<0.01). The incidence of infratentorial peripheral white matter lesions in the MOG group was 31.4% (11/35), which was higher than that in the AQP4 positive group (5.6%, 2/36; χ2=6.31, P<0.05). Receiver operating characteristic (ROC) curve showed that peripheral lesions [including 6 types of lesions such as supratentorial soft meningitis, cortical encephalitis, cortical and juxtacortical lesions, infratentorial soft meningitis, infratentorial soft meningeal demyelination and infratentorial peripheral lesions, area under curve (AUC)=0.93] were more important than cortical and juxtacortical lesions (AUC=0.75) and central lesions (supratentorial paraventricular white matter lesions, diencephalon, infratentorial paraventricular lesions,AUC=0.64), which had higher diagnostic efficiency. Conclusions:The incidence of intracranial lesions in MOG antibody related demyelinating disease was higher than that in AQP4 positive NMOSD, and the distribution and morphology of intracranial MRI lesions in the two diseases had their characteristic manifestations. Identifying the distribution patterns of peripheral lesions (distributed along pia mater) and central lesions (distributed along ependyma) had a certain reference significance for distinguishing the two groups of diseases.

Objective:To evaluate the auxiliary diagnosis value of bacterial culture, polymerase chain reaction (PCR) and serum anti-pertussis toxin immunoglobulin G (AntiPT-IgG) level detection in suspected pertussis.Methods:A total of 110 suspected cases of pertussis treated in the Department of Pediatrics of Wuhu No.1 People′s Hospital from June 2018 to May 2019 were recruited for the study.The nasopharyngeal swabs of all cases were collected for Bordetella pertussis culture and specific nucleic acid PCR detection.Serum samples of 78 cases were collected for the detection of AntiPT-IgG level by enzyme linked immunosorbent assays.Results:The positive rates of bacterial culture group and PCR group were 21.8% and 30.0%, respectively, with no statistically significant difference ( χ2=1.198, P>0.05). The culture positive rate of cases with the duration of cough<2 weeks was 32.1%, which was signi-ficantly higher than that of cases with the duration of cough about 2-4 weeks (14.3%) or >4 weeks (9.1%) ( χ2=6.522, P<0.05). The PCR positive rate of cases with the duration of cough <2 weeks was 39.6%, which was also significantly higher than that of cases with the duration of cough about 2-4 weeks (25.7%) or > 4 weeks (13.6%) ( χ2=6.126, P<0.05). The mean value for serum AntiPT-IgG level of 78 cases was (75.727±78.454) IU/mL, the median AntiPT-IgG levels of cases with the duration of cough<2 weeks and about 2-4 weeks were 5.909 IU/mL and 20.948 IU/mL, respectively, and the positive rates were 14.7% and 38.1%, respectively.The AntiPT-IgG level of cases with the duration of cough> 4 weeks and that at convalescent stage were (79.281±68.254) IU/mL and (107.242±75.750) IU/mL, and the positive rates were 39.1% and 57.1%, respectively. Conclusions:In the vaccine era, the results of pathogenic and serological tests should be combined to assist the clinical diagnosis of pertussis.The positive rate of bacterial culture and specific nucleic acid pathogen detection in children with cough duration less than 2 weeks is high, and the serological diagnosis is more effective after the duration of cough is over 4 weeks.

Objective To understand the current status of receiving no methadone maintenance treatment (MMT) and influencing factors in HIV infected injecting drug users (IDUs) in Dehong Dai and Jingpo autonomous prefectures,Yunnan province.Methods Data of survival of IDUs with AIDS in Dehong were collected from "Chinese National Comprehensive HIV/AIDS and Care Information System" in December,2014.Results There were 987 IDUs who should receive MMT,the majority of them were males (94.6％,934/987),aged 35-44 years (53.0％,523/987) and farmers (77.2％,762/987).Among the 987 IDUs,60.2％ (592/987) received no MMT.Multivariate logistic regression analysis showed that being female (OR=2.66,95％CI:1.21-5.87),in Jingpo ethnic group (OR=3.05,95％CI:1.97-4.71) were the major risk factors for receiving no MMT;not being farmers (OR=0.46,95％CI:0.31-0.70),in Dai ethnic group (OR=0.53,95％CI:0.36-0.79),diagnosed HIV infection history ≥ 10 years (OR=0.60,95％CI:0.45-0.81) were the major protective factors for receiving no MMT.The reasons for receiving no MMT included long distance journey (289,48.8％),fear of exposure (124,20.9％),poor daily medication compliance (59,10.0％),fear of side effects (47,7.9％),others (73,12.3％).Conclusions The proportion of receiving no MMT in IDUs with AIDS in Dehong was high.Being female and farmer,in Jingpo ethnic group,low educational level,short diagnosed HIV infection history were influencing factors for receiving no MMT.The effective intervention measures should be taken to further improve MMT coverage according to the different characteristics of the patients.

Objective To explore the clinical characteristics and related factors of cognitive impairment in elderly post-stroke aphasia (PSA) patients.Methods Eighty-two patients after stroke,admitted to our hospitals between April 2013 and November 2014,were enrolled in this study,including 62 patients with aphasia.Based on the criteria for age segmentation from World population ageing 2009 [6],these patients were divided into 3 groups with "age=60 years":PSA patients older than 60 years as experimental group (n=30),PSA patients younger than 60 years as control group Ⅰ (n=32),and non-aphasia patients older than 60 years as control group Ⅱ (n=20).The clinical data,NIHSS scores and MRI/CT results of these patients were recorded;and the assessments of language ability,post-stroke depression (PSD) and nonlinguistic cognition were performed;classification of aphasia severity of the patients was performed by Boston diagnostic aphasia examination (BDAE).Multivariate regression analysis was performed to examine relative factors of cognitive impairment in PSA patients.Results (1) Nonlinguistic cognitive scores were significantly correlated with BDAE scores (β=0.637,P=0.000),age(β=-0.392,P=0.000),SADQ-H scores(β=-0.176,P=0.035) and cortical lesions(β=-0.150,P=0.049).(2) As compared with patients of control group Ⅰ,patients of experimental group were more likely showed deficits in most nonlinguistic cognitive domains except for abstract reasoning;and the cognitive function scale scores were significantly decreased (P＜0.05);patients of experimental group had significantly increased number of nonlinguistic cognitive domains and significantly decreased cognitive function scale scores,except for visual perception and construction scores as compared with patients of control group Ⅱ (P＜0.05).(3) The prevalence of abstract reasoning impairment was significantly lower as compared with that of visual memory,attention and executive functioning in patients of experimental group (P＜0.05).(4) The frequency and severity of impaired cognitive domains in the experiment group were significantly higher than those in the control group Ⅰ and Ⅱ (P＜0.05).Conclusions Nonlinguistic cognitive impairment is extremely common in elderly PSA patients.The aphasia severity and age are most associated with cognitive impairment in PSA patients,post-stroke depression and cortical lesions also have an effect on cognitive scores.