Objective:To investigate the effects of multimodal and multisensory stimulation training on feeding-swallowing and neurological functions in stroke patients with dysphagia.Methods:Stroke patients with dysphagia treated at Henan Provincial People's Hospital from January 2023 to October 2024 were enrolled. Patients were randomly divided into three groups according to the random number table method, with 36 patients in each group. These three groups underwent different interventions for a period of 8 weeks: multisensory stimulation intervention (stimulation group), multimodal rehabilitation training intervention (rehabilitation group), and innovative multimodal and multisensory stimulation training intervention (combined group). The Kubota water swallow test and functional oral intake scale (FOIS) were used to assess the effective improvement rate of feeding function. Differences in scores of modified Mann assessment of swallowing (MMASA), swallowing quality of life (SWAL-QOL), and National Institute of Health Stroke scale (NIHSS) among the three groups were compared before intervention, and at 4 and 8 weeks post-intervention. SPSS 27.0 software was used to analyze the data by one-way ANOVA, repeated measures ANOVA, Kruskal-Wallis H test, Mann-Whitney U test and Pearson correlation analysis. Results:(1) After 8 weeks of intervention, the effective improvement rates of feeding function were 75.00%(27/36) and 72.22%(26/36) in the stimulation group and rehabilitation group, respectively, which were both lower than that in the combined group (94.44%(34/36), both P<0.05). (2) The interaction effect between time and group was significant in MMASA scores among the three groups before and after intervention ( F=2.569, P<0.05). MMASA scores at 8 weeks post-intervention were higher than those at 4 weeks post-intervention and baseline in all groups (all P<0.05), and scores at 4 weeks post-intervention were also higher than those at baseline (all P<0.05). At 4 and 8 weeks post-intervention, MMASA scores in the combined group (85.64±11.26, 92.56±10.55) were higher than those in the stimulation group (73.52±12.65, 82.97±12.84) and rehabilitation group (72.47±11.38, 84.39±12.29) (all P<0.05). (3) The interaction effect between time and group was significant in SWAL-QOL total scores among the three groups before and after intervention ( F=18.561, P<0.05). SWAL-QOL total scores at 8 weeks post-intervention were higher than those at 4 weeks post-intervention and baseline in all groups ( P<0.05), and scores at 4 weeks post-intervention were also higher than those at baseline (all P<0.05). At 4 and 8 weeks post-intervention, SWAL-QOL total scores in the combined group (115.64±9.26, 135.68±9.55) were higher than those in the stimulation group (108.42±8.65, 113.75±8.84) and rehabilitation group (108.37±8.38, 114.39±9.29) (all P<0.05). (4) The interaction effect between time and group was significant in NIHSS scores among the three groups before and after intervention ( F=7.890, P<0.05). NIHSS scores at 8 weeks post-intervention were lower than those at 4 weeks post-intervention and baseline in all groups (all P<0.05), and scores at 4 weeks post-intervention were also lower than those at baseline (all P<0.05). At 4 and 8 weeks post-intervention, NIHSS scores in the combined group (8.36±1.35, 5.22±1.05) were lower than those in the stimulation group (11.65±2.11, 8.78±1.12) and rehabilitation group (11.32±2.03, 8.36±1.17) (all P<0.05). Conclusion:Multimodal and multisensory stimulation training can improve feeding-swallowing function and neurological impairment in stroke patients with dysphagia, with intervention effects superior to those of either approach used alone.

Objective:To investigate the effects of multimodal and multisensory stimulation training on feeding-swallowing and neurological functions in stroke patients with dysphagia.Methods:Stroke patients with dysphagia treated at Henan Provincial People's Hospital from January 2023 to October 2024 were enrolled. Patients were randomly divided into three groups according to the random number table method, with 36 patients in each group. These three groups underwent different interventions for a period of 8 weeks: multisensory stimulation intervention (stimulation group), multimodal rehabilitation training intervention (rehabilitation group), and innovative multimodal and multisensory stimulation training intervention (combined group). The Kubota water swallow test and functional oral intake scale (FOIS) were used to assess the effective improvement rate of feeding function. Differences in scores of modified Mann assessment of swallowing (MMASA), swallowing quality of life (SWAL-QOL), and National Institute of Health Stroke scale (NIHSS) among the three groups were compared before intervention, and at 4 and 8 weeks post-intervention. SPSS 27.0 software was used to analyze the data by one-way ANOVA, repeated measures ANOVA, Kruskal-Wallis H test, Mann-Whitney U test and Pearson correlation analysis. Results:(1) After 8 weeks of intervention, the effective improvement rates of feeding function were 75.00%(27/36) and 72.22%(26/36) in the stimulation group and rehabilitation group, respectively, which were both lower than that in the combined group (94.44%(34/36), both P<0.05). (2) The interaction effect between time and group was significant in MMASA scores among the three groups before and after intervention ( F=2.569, P<0.05). MMASA scores at 8 weeks post-intervention were higher than those at 4 weeks post-intervention and baseline in all groups (all P<0.05), and scores at 4 weeks post-intervention were also higher than those at baseline (all P<0.05). At 4 and 8 weeks post-intervention, MMASA scores in the combined group (85.64±11.26, 92.56±10.55) were higher than those in the stimulation group (73.52±12.65, 82.97±12.84) and rehabilitation group (72.47±11.38, 84.39±12.29) (all P<0.05). (3) The interaction effect between time and group was significant in SWAL-QOL total scores among the three groups before and after intervention ( F=18.561, P<0.05). SWAL-QOL total scores at 8 weeks post-intervention were higher than those at 4 weeks post-intervention and baseline in all groups ( P<0.05), and scores at 4 weeks post-intervention were also higher than those at baseline (all P<0.05). At 4 and 8 weeks post-intervention, SWAL-QOL total scores in the combined group (115.64±9.26, 135.68±9.55) were higher than those in the stimulation group (108.42±8.65, 113.75±8.84) and rehabilitation group (108.37±8.38, 114.39±9.29) (all P<0.05). (4) The interaction effect between time and group was significant in NIHSS scores among the three groups before and after intervention ( F=7.890, P<0.05). NIHSS scores at 8 weeks post-intervention were lower than those at 4 weeks post-intervention and baseline in all groups (all P<0.05), and scores at 4 weeks post-intervention were also lower than those at baseline (all P<0.05). At 4 and 8 weeks post-intervention, NIHSS scores in the combined group (8.36±1.35, 5.22±1.05) were lower than those in the stimulation group (11.65±2.11, 8.78±1.12) and rehabilitation group (11.32±2.03, 8.36±1.17) (all P<0.05). Conclusion:Multimodal and multisensory stimulation training can improve feeding-swallowing function and neurological impairment in stroke patients with dysphagia, with intervention effects superior to those of either approach used alone.

AIM: To analyze the correlation between ocular surface status and serum lipids in patients with meibomian gland dysfunction(MGD)during pregnancy, and to provide new ideas for the management and treatment of MGD during pregnancy.METHODS: Totally 120 pregnant women(240 eyes)treated in our hospital from May 2021 to May 2022 were selected and they were divided into MGD group(60 cases, 120 eyes)and control group(60 cases, 120 eyes)according to the presence or absence of MGD. All subjects received the ocular surface disease index scores(OSDI)and underwent examinations of meibomian gland morphology and function, tear film and blood lipid.RESULTS: The scores of OSDI, the related indexes of meibomian gland, corneal fluorescein staining(FL)scores, total cholesterol(TC), triglyceride(TG)and low density lipoprotein-cholesterol(LDL-C)in the MGD group were significantly higher than those in the control group(P<0.05). The scores of fluorescein breakup time(FBUT), Schirmer Ⅰ test(SIt)and high-density lipoprotein cholesterol(HDL-C)in the MGD group were significantly lower than those in the control group(P<0.05). Correlation analysis showed that the scores of TG, TC, LDL-C were negatively correlated with the values of FBUT(rs =-0.702, -0.647, -0.710, all P<0.001).CONCLUSION: The level of blood lipids in pregnant patients with MGD is significantly increased, and the levels of TC, TG and LDL-C may be related to the stability of tear film.

Breast cancer is a systemic malignant tumor caused by multiple pathogenic factors， and its pathological mechanism is complex and has not been clarified so far. It has gradually become the largest killer threatening women's life. The common method for the treatment of breast cancer is lesion resection combined with radiation and chemical therapy， endocrine therapy， or targeted therapy. However， due to the limitations of western medicine therapies， there are still considerable breast cancer patients with poor disease control and high tumor recurrence rate in clinical practice. At the same time， the side effects and complications produced by these therapies affect the quality of life of patients. Therefore， it is urgent to develop new drugs or find safe and effective alternative therapies against breast cancer. Volatile oil （VO）， as a unique volatile component of Chinese herbal medicines， has anti-inflammatory， antiviral， and anti-tumor activities. It has been applied in the treatment of breast cancer and has demonstrated good efficacy by exerting the unique effects of strengthening healthy Qi， eliminating pathogenic factors， moving Qi， resolving stasis， warming Yang， soothing liver， and relieving depression. The recent studies have confirmed that VO and its chemical components can prevent and treat breast cancer via multiple mechanisms， while there is a lack of systematic review. The relevant literature published in recent years has demonstrated that VO can inhibit the occurrence and development of breast cancer by regulating the level of estrogen， inhibiting the proliferation and inducing the apoptosis of cancer cells， enhancing immunity， resisting inflammation， and regulating emotions. We introduced the pathogenesis of breast cancer， as well as the mechanisms and advantages of VO in the prevention and treatment of breast cancer， aiming to provide new ideas for the research on VO in the treatment of breast cancer.

Objective To report clinical characteristics and genetic results of two sisters suffered from congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency), and relevant literatures were reviewed. Methods Clinical manifestation and laboratory examination data of two sister cases of 17-α-hydroxylase deficiency enrolled in Capital Institute of Pediatrics in March 2016 were analyzed. Sanger sequencing and MLPA for CYP17A1 genes were performed and the parents' genes were also verified. Results The two patients were four years and 10 years old, both suffered from hypokalemia after infections, and hypergonadotrophin gonad hypofunction. One case was with slightly high blood pressure. Laboratory test results showed potassium fluctuation tendency in 1.9~4.0 mmol/L, 17-OHP and DHEA was decreased. Enhanced CT showed different degree of adrenal gland enlargement. Chromosome examination of the older sister is 46, XY. Both sisters demonstrated heterozygous mutation of CYP17A1 gene. The molecular genetic analysis suggested a c.985_987delTACinsAA from father and a deletion spanning exons 1-7 of the CYP17A1 gene from mother. Conclusion 17-α-hydroxylase enzyme deficiency can be diagnosed before adolescence. Clinical hypokalemia with unknown reason and high blood pressure may indicate the disease. The diagnosis can be confirmed with gene sequencing of CYP17A1.

Objective A 10-years-old girl with Schimke immuno-osseous dysplasia ( SIOD ) was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents' DNA were extracted from blood for detecting SMARCALl gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because of slow growth in height for 3 years. Herstaturewas123cm(T(p.Q149X)andc.1933C>T(p.R645C)compound heterozygous mutation. A novel nonsense c.445C>T(p. Q149X)was found. One reported missense mutations c. 1933C>T(p. R645C) was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, café-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD.

Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. The clinical manifestations, bone metabolism examinations, X-RAY and genotypes were reviewed. Result: Our patient was an 11 years old girl, with 7 years history of lower limb malformation. She showed significant valgus deformity of the knee (genu valgum). Metabolic examination revealed reduced level of plasma phosphate (0.86 mmol/L), a normal level of plasma calcium (2.30 mmol/L) and an elevated alkaline phosphatase level of 688 IU/L. The calcium-phosphorus product was 25.9. A homozygous nonsense variants of ENPP1 gene, c.783C>G (p.Tyr261X) in exon 7 was identified in the patient. Both parents were heterozygous carriers. Literature review identified 3 Chinese patients from one publication and 17 cases from twenty one publications around the world. None of the patients was found PHEX variants which is the most common variants among hypophosphatemic rickets patients. The disease onset age was 11 months to 10 years. Eight patients had short stature, five patients had the history of generalized arterial calcification of infancy. Four suffered from deafness, three showed localized calcifications of arteries, three patients manifested pseudoxanthoma elasticum and two suffered from ossification of posterior longitudinal ligament. Nine missense variants, six splicing variants and 4 nonsense variants were reported among these twenty patients. c.783C>G was found in two Chinese patients. Conclusion ENPP1 gene mutation was a cause of patient with hypophosphatemic rickets. Comorbid features included generalized arterial calcification of infancy, early onset hearing loss, pseudoxanthoma and ossification of posterior longitudinal ligament. ENPP1 gene testing should be performed on hypophosphatemic rickets patients without PHEX gene variants. Long-term follow up is recommended. The most common types of ENPP1 gene variants were nonsense/splicing variants. The gene c.783C>G was the most common variants in Chinese patients.

Objective Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease, the aim of this article is to help better understanding of this disease. Methods The clinical features, genetic analysis and treatments of two siblings with CNDI were retrospectively analyzed, and related literatures were reviewed. Results Both brothers had polydispia, polyuria and low concentrate urine continuously, and they both had a mutation in AQP 2 conifrmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP 2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.

Human 5-lipoxygenase (5-LOX) is a well-validated drug target and its inhibitors are potential drugs for treating leukotriene-related disorders. Our previous work on structural optimization of the hit compound 2 from our in-house collection identified two lead compounds, 3a and 3b, exhibiting a potent inhibitory profile against 5-LOX with IC50 values less than 1 µmol/L in cell-based assays. Here, we further optimized these compounds to prepare a class of novel pyrazole derivatives by opening the fused-ring system. Several new compounds exhibited more potent inhibitory activity than the lead compounds against 5-LOX. In particular, compound 4e not only suppressed lipopolysaccharide-induced inflammation in brain inflammatory cells and protected neurons from oxidative toxicity, but also significantly decreased infarct damage in a mouse model of cerebral ischemia. Molecular docking analysis further confirmed the consistency of our theoretical results and experimental data. In conclusion, the excellent in vitro and in vivo inhibitory activities of these compounds against 5-LOX suggested that these novel chemical structures have a promising therapeutic potential to treat leukotriene-related disorders.

Objective To analyze the genetic changes and detailed clinical presentations of 5 maturity-onset diabetes of the young (MODY) cases in order to enhance the knowledge about MODY in children.Methods Seventy-eight patients initially diagnosed as diabetes mellitus between January 1 and December 31,2015 in Capital Institute of Pediatrics were retrospectively studied.Nine of them were suspected of MODY,and 5 patients were diagnosed as MODY through gene test.Clinical informations were collected including age,gender,main complaint,family history,body mass index (BMI),fasting blood glucose,fasting blood insulin,2-hour blood glucose and insulin after oral glucose tolerance test and glycosylated hemoglobin.The blood glucose was monitored dynamically in 2 patients.Targeted capture panel was designed to capture the 16 genes related to MODY,including 12 genes from MODY1 to MODY13 type and 4 genes with weak evidence of MODY according to Human Gene Mutation Database Exome capture,and Next-Generation sequencing on a HiSeq2000 (Illumina) was performed.After bioinformatics analysis,all prioritized variants detected in patients were validated by Sanger sequencing,including the probands and their parents.Results Five patients were confirmed as MODY by molecular diagnosis,accounting for 6.4％ of all the 78 patients in 2015.The ratio of male to female was 2 ∶ 3.The ages at diagnosis ranged from 2 to 11 years old,and the median age was 3 years old.Two cases were found to have abnormal blood glucose in physical examination.The rest 3 cases were discovered with abnormal blood glucose during hospitalization because of pneumonia (1 case)or diarrhea (2 cases).In 4 cases,their mothers had gestational diabetes history,in 1 case the father suffering from diabetes.BMI ranged 15.68-23.40 kg/m2.Fasting blood glucose was 6.3-7.2 mmol/L.Fasting blood insulin was 0.5-8.0 IU/L.Glucose tolerance test results showed that blood glucose of the patients was 8.6-10.8 mmol/L after 2 hours.The level of glycosylated hemoglobin was 5.5％-6.7％.Blood glucose was 3.9-13.0 mmol/L.All the 5 confirmed patients were caused by GCK gene mutation (MODY2 type).The mutations detected were located at Exon7 (2 cases),Exon4 (1 case),Exon5 (1 case),and Exon10 (1 case).Conclusions All the confirmed MODY patients were identified either through medical exam or infectious disease,and all had positive family history.Their BMI ranged widely.Fasting blood glucose was slightly elevated and glycosylated hemoglobin was normal or slightly elevated,but fasting blood insulin was normal in all the patients.Abnormal glucose tolerance test results were found in all 5 patients.Glycosylated hemoglobin was normal or slightly elevated.MODY2 was the only subtype detected in this group,which indicated that the common type in children was different from that in adults.