Purpose To explore the value of texture analysis in the diagnosis and course evaluation of Parkinson's disease(PD)by analyzing the texture features of gray matter nuclei and white matter on quantitative susceptibility mapping(QSM)sequences.Materials and Methods A total of 30 PD patients and 22 normal controls from July 2019 to November 2020 in Jiangyin People's Hospital were prospectively enrolled to perform enhanced gradient echo T2* weighted angiography(ESWAN)sequence scanning.All QSM images were obtained through post-processing.Region of interest was manually obtained,including bilateral caudate heads,globus pallidus,putamen,substantia nigra,red nucleus,cerebellar dentate nucleus and white matter at the center of the semicircle.The texture features of the region of interest were extracted.After dimension reduction and screening,a set of optimal texture parameters were obtained,and a random forest prediction model was constructed.The diagnostic efficiency of the model was analyzed and evaluated and the reliability of the model was evaluated.The correlation between the selected texture features and the clinical scale of PD patients was analyzed.Results A group(n=5)of the best texture feature parameters were obtained from QSM map.The area under curve range of independent prediction PD was 0.697-0.823,the area under curve of random forest model was 0.910,and the accuracy of cross validation was 0.888.Texture feature(r4_wavelet_LLL_firstorder_Energy)of PD group was negatively correlated with the scores of the mini mental state examination(r=-0.470,P=0.011).Conclusion The texture analysis based on QSM has a high diagnostic value for PD,and the texture features of the left putamen have a certain correlation with the cognitive function of PD patients.

Objective:To observe the clinical effect of adjustable silicone strap suspension in the treatment of myasthenia gravis ptosis.Methods:From January 2019 to January 2020, 60 patients with myasthenia gravis ptosis (35 males, 25 females, age distribution from 25 to 58 years, with average of 35.63 years) were collected from the Department of Ophthalmoplasty of Aier Eye Hospital affiliated to Wuhan University. They were divided into control group and observation group, with 30 cases in each group. The observation group was treated with adjustable silicone band suspension, and the correction effect, satisfaction, recovery status, ocular surface function index, recurrence rate and complications of the two groups were compared.Results:The excellent rate of operation in the observation group was 93.33% (28/30), which was significantly higher than 63.33% (19/30) in the control group (χ 2=6.29, P<0.05), and the satisfaction of patients in the observation group was 100% (30/30), which was significantly higher than 76.67% (23/30) in the control group (χ 2=5.82, P<0.05). The preoperative corneal curvature and fluorescein staining in the observation group and the control group were significantly lower than those in the postoperative state ( t=6.17, 21.48, P<0.05). The corneal curvature and fluorescein staining score of the observation group were significantly higher than those of the control group at 3 months after surgery ( t=3.00, 9.06, P<0.05). There was no significant difference between the two groups in the incidence of complications such as eyelid imclosure, upper eyelid inversion and unnatural upper eyelid curvature (χ 2=0.19, P>0.05). Follow up at 3 months after surgery, the recurrence rate in the observation group was lower than that in the control group (χ 2=4.63, P<0.05). Conclusions:Surgery is an option for patients with myasthenia gravis ptosis who are not responding well to medical treatment and whose condition is stable. Adjustable silicone strap suspension for the treatment of myasthenia gravis ptosis can significantly improve the surgical success rate and patient satisfaction, with low postoperative complication rate and recurrence rate, which is suitable for clinical application.

The impairment of islets β cell by autoimmune response is an important cause of type 1 diabetes mellitus (T1DM). Some monogenic autoimmune syndromes could induce T1DM in difference chance, which are important disease models to deeply understand autoimmunity and T1DM. This article reviews the diagnosis, treatment and genetic detection of eight known single gene autoimmune syndromes associated with T1DM, arming to expand the diagnosis and treatment of T1DM.

Objective:To analyze the incidence and mortality trends of female breast cancer in China from 1990 to 2019 and the impact of age-period-cohort (APC) on it.Methods:The incidence and mortality of breast cancer of Chinese women aged 20-95 years from 1990 to 2019 were collected from the Global Burden of Disease (GBD) in 2019. Joinpoint software was used to estimate the average annual percentage change rate (AAPC) of age standardized incidence and mortality, and analyze the changing trend of disease burden of breast cancer in Chinese women from 1990 to 2019. The R language based APC model developed by the National Cancer Institute of the United States was used to analyze the impact of age, period and cohort on their changes.Results:From 1990 to 2019, the age standardized incidence of female breast cancer in China showed an upward trend, from 17.07/100 000 in 1990 to 35.61/100 000 in 2019, with an average annual increase of 2.59% (95% CI: 2.45%-2.73%, P<0.001) , which was higher than the global level (AAPC=0.47%, 95% CI: 0.31%-0.63%, P<0.001) . The standardized mortality showed a slight downward trend, from 9.16/100 000 in 1990 to 9.01/100 000 in 2019, with a decrease of 0.05% (95% CI: -0.20%-0.09%, P=0.479) , but there was not a statistically significant difference. APC model results showed that the incidence and mortality of female breast cancer increased with age. With the passage of time, the incidence from 1990 to 2019 showed an upward trend, and the incidence risk rose to 1.49 in the 2015-2019 period (95% CI: 1.42-1.57, P<0.001) . The mortality showed a downward trend, and the death risk was the highest in the 1990-1994 period ( RR=0.79, 95% CI: 0.74-0.83, P<0.001) . Cohort effect results showed that the later the women were born, the higher the risk of morbidity. The women born in the cohort from 1995 to 1999 had the highest risk ( RR=3.12, 95% CI: 1.82-5.33, P<0.001) . The risk of death showed a unimodal distribution, showing a trend of first increasing and then decreasing, the later the women were born, the lower the risk of death. The birth cohort from 1950 to 1954 had the highest risk of death ( RR=1.04, 95% CI: 0.98-1.09, P<0.001) , and then showed a downward trend, falling to 0.48 (95% CI: 0.19-1.24, P<0.001) in the birth cohort from 1995 to 1999. Conclusion:From 1990 to 2019, the incidence of breast cancer in Chinese women shows an upward trend, which is significantly higher than the global increase, and the mortality tends to stabilize. APC model analysis finds that the incidence and mortality increase with age, and the period and cohort effects show that the incidence risk of breast cancer in Chinese women gradually increases with the passage of the period and cohort. The period effect of mortality shows a downward trend, and the cohort effect of mortality shows a unimodal distribution, showing a trend of first increasing and then decreasing.

The basic information and clinical data of 4 Phelan-McDermid syndrome (PMS) patients in the Pediatric Outpatient Department of the Peking University First Hospital from January 2014 to October 2019 were retrospectively analyzed.Genetic diagnoses were performed using the whole exon sequencing assay.The genotype-phenotype correlation analysis was then performed.All patients presented with intellectual disability/developmental delay, especially the most-common manifestation in language disability.Patient 2 had an autism behavior.Four novel variations of the SHANK3 gene were found in this study, including the c. 2861delC p. (S955Pfs*109), c.3166delC p. (A1039Afs*39), c.3711_3723delGCCCAGCCCCCGG p. (L1241Lfs*29) and c. 2223+ 1G>A.All of them were analyzed as new pathogenic variations according to the American College of Medical Genetics and Genomics criteria.The present study expan-ded the mutant spectrum of the SHANK3 gene, which provided a basis for further accurate genetic counseling and prenatal diagnosis of PMS.

Objective:To explore the clinical and genetic characteristics of three children with 22q13 deletion syndrome. .Methods:Clinical data were collected and copy number variations in the patients and their parents were detected by using array-based comparative genomic hybridization (aCGH) and copy number variation sequencing (CNV-seq). The DECIPHER, ClinGen, OMIM, PubMed and Gene Review databases were retrieved for pathogenicity analysis. .Results:The common phenotypes of the three children have included variable global developmental delay, among which speech delay was the most obvious. Patient 1 had abnormalities of corpus callosum shown by magnetic resonance imaging. Patient 2 had dental crowding, pale skin, thick palms, hypotonia, and other facial features. Patient 3 had the mildest symptoms including language dysfunction, which has caught up with the development and improved significantly. All of the three children had harbored de novo deletions of 22q13.33q13.33 region, which spanned 0.84 Mb, 8.70 Mb and 0.90Mb and involved 37, 126, and 34 genes, respectively.Conclusion:Above finding has enriched the clinical and genetic characteristics of 22q13 deletion syndrome and laid a foundation for genetic counseling and prenatal diagnosis.

Maturity-onset diabetes of the young (MODY)is a heterogeneous monogenic diabetes, in which MODY1, MODY2, and MODY3 are the most common subtypes. In recent years, new hypoglycemic drugs such as glucagon-like peptide-1 receptor agonists (GLP-1RA), dipeptidyl peptidase-4 inhibitors (DPP-4i), sodium-glucose co-transporter 2 inhibitors (SGLT2i), and glucokinase activators (GKA)have made good progress in the treatment of diabetes. Based on the latest basic and clinical evidence, the article reviews the pathogenesis, clinical features, diagnosis and treatment progress of new hypoglycemic drugs of the above three types of MODY, aiming to develop safer and more effective new ways for the diagnosis and treatment of MODY.

The main lysosomal protease cathepsin D (cathD) is essential for maintaining tissue homeostasis via its degradative function, and its loss leads to ceroid accumulation in the mammalian nervous system, which results in progressive neurodegeneration. Increasing evidence implies non-proteolytic roles of cathD in regulating various biological processes such as apoptosis, cell proliferation, and migration. Along these lines, we here showed that cathD is required for modulating dendritic architecture in the nervous system independent of its traditional degradative function. Upon cathD depletion, class I and class III arborization (da) neurons in Drosophila larvae exhibited aberrant dendritic morphology, including over-branching, aberrant turning, and elongation defects. Re-introduction of wild-type cathD or its proteolytically-inactive mutant dramatically abolished these morphological defects. Moreover, cathD knockdown also led to dendritic defects in the adult mushroom bodies, suggesting that cathD-mediated processes are required in both the peripheral and central nervous systems. Taken together, our results demonstrate a critical role of cathD in shaping dendritic architecture independent of its proteolytic function.

The laterodorsal tegmentum (LDT) is a brain structure involved in distinct behaviors including arousal, reward, and innate fear. How environmental stimuli and top-down control from high-order sensory and limbic cortical areas converge and coordinate in this region to modulate diverse behavioral outputs remains unclear. Using a modified rabies virus, we applied monosynaptic retrograde tracing to the whole brain to examine the LDT cell type specific upstream nuclei. The LDT received very strong midbrain and hindbrain afferents and moderate cortical and hypothalamic innervation but weak connections to the thalamus. The main projection neurons from cortical areas were restricted to the limbic lobe, including the ventral orbital cortex (VO), prelimbic, and cingulate cortices. Although different cell populations received qualitatively similar inputs, primarily via afferents from the periaqueductal gray area, superior colliculus, and the LDT itself, parvalbumin-positive (PV) GABAergic cells received preferential projections from local LDT neurons. With regard to the different subtypes of GABAergic cells, a considerable number of nuclei, including those of the ventral tegmental area, central amygdaloid nucleus, and VO, made significantly greater inputs to somatostatin-positive cells than to PV cells. Diverse inputs to the LDT on a system-wide level were revealed.

Objective To investigate the effects of gambogenic acid(GNA) on the proliferation and apoptosis of A549 lung canc‐er cells and its possible mechanism of regulation .Methods A549 cells were treated with different concentrations of GNA ,which di‐vided into control group and GNA group(0 .5 ,1 .5 ,20 mg/L) .The cell proliferation and apoptosis of A549 was analyzed by MTT , Hoechst staining ;The expression of apoptosis‐related protein caspase3 ,caspase9 ,p53 and NF‐κB were studied by Western blot .Re‐sults GNA could inhibit growth of A549 cells ;Moreover GNA could also induce apoptosis with the concentration increased more obviously ;Western blot showed that GNA down‐regulate NF‐κB ,increased caspase3 ,caspase9 and p53 expression(P<0 .05) .Con‐clusion GNA can efficiently promote the cell proliferation inhibition and the apoptosis of A 549 cells .