Objective:To explore any effect of repeated transcranial magnetic stimulation (rTMS) on the upper limb motor function and cerebral cortex activation of stroke survivors.Methods:Sixty stroke survivors were randomly divided into an intervention group and a control group, each of 30. In addition to routine rehabilitation training (including drug therapy, comprehensive hemiplegic limb training and physical factor therapy), the intervention group received 15 minutes of rTMS daily, five days a week for 4 weeks while the control group was given false rTMS. Upper limb motor function was evaluated before and after the treatment using the Fugl Meyer upper limb motor function rating scale (FMA-UE). Functional near-infrared spectroscopy was used to detect and compare the activation (β values) of the prefrontal cortex, the motor cortex and the primary somatosensory cortex in the 2 groups. The correlation between the FMA-UE scores and the β values was quantified.Results:①There was no significant difference in the average FMA-UE scores between the two groups before the treatment. Afterward, though both groups′ average scores had increased significantly, there was significantly greater improvement in the treatment group. ②There was also no significant difference in average β value between the two groups before the experiment, but afterward the average βs of channels 27 and 13 in the intervention group were significantly higher than in the control group. Moreover, in patients with lesion in the left brain, the β-values of CH27 and CH13 were also significantly higher than the control group ( P<0.05). ③The FMA-UE scores of the intervention group were moderately correlated with the CH27 and CH13 β values, but those of the control group were only weakly correlated with the β values of CH27. Conclusion:Transcranial magnetic stimulation activates a lesioned left brain region, improving upper limb motor function. The improvement is correlated with the activation of the left prefrontal cortex and the left primary somatosensory cortex.

Objective To explore and verify the protective and therapeutic effects and possible mechanisms of Zukamu granules on hypoxia alone and hypoxia+Su5416-induced hypoxic pulmonary hypertension(HPH)in mice.Methods Multiple databases and related literature were used to collect the active ingredients data in Zukamu granules and the HPH-related targets were predicted and obtained.The network construction and enrichment analysis were performed.The HPH mouse models were es-tablished by two-week hypoxia and four-week hypoxia+Su5416 induction,and the relevant indicators and the main pharmacodyna-mic indexes such as right ventricular pressure were tested.Masson staining was used to observe the pathological changes in lung tissues,and Western blotting was used to detect the expression levels of bax,bcl-2,PI3K,p-PI3K,eNOS,and HIF-1α in lung tis-sues.Results A total of 167 active ingredients of Zukamu granules were screened,with 179 intersecting targets with HPH,in-cluding targets like PIK3CA and HIF-1.The validation experimental results showed that Zukamu granules could significantly re-duce right ventricular systolic pressure and right ventricular hypertrophy in HPH mice,and down-regulate the expression of bcl-2 and HIF-1α and up-regulate the expression of bax,PI3K,p-PI3K and eNOS in mice lung tissues.Conclusion Zukamu gran-ules may act against HPH by modulating bax/bcl and PI3K-eNOS/HIF-1α signaling pathways.

Objective:To select and summarize the best evidence related to skin management in glioblastoma patients treated with tumor treating fields (TTFields) at home and abroad, so as to provide reference for clinical decision-making.Methods:Cochrane Library, UpToDate, PubMed, Embase, CINAHL, Web of Science, CNKI, Wanfang Database, VIP, SinoMed, Guideline Network and professional association websites were searched by computer. Clinical practice guidelines, expert consensus, clinical decision-making, systematic review and evidence summary related to skin management in patients with glioblastoma treated with TTFields were included, and the retrieval time was from establishment of databases to March 31, 2022. Two researchers independently evaluated the quality of literature and extracted evidence.Results:A total of 9 literatures were included, including 2 guidelines, 4 expert consensus, 2 systematic reviews and 1 clinical decision-making. A total of 31 pieces of best evidence were formed from 5 aspects, including risk factors, nursing evaluation, preventive intervention measures, drug therapy and adverse skin reactions and treatment.Conclusions:This study summarizes the best evidence for skin management of glioblastoma patients treated with TTFields. Medical staff should fully evaluate the skin condition of patients according to the clinical scenario and the actual situation of patients and do a good job in skin management to reduce the incidence of skin injury of patients.

OBJECTIVE: To explore the genetic basis for a pedigree affected with Nance-Horan syndrome. METHODS: Clinical manifestation of the patients was analyzed. Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 unrelated healthy controls. A panel of genes for congenital cataract was subjected to next-generation sequencing (NGS), and candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of American College of Medical Genetics and Genomics (ACMG). mRNA expression was determined by reverse transcriptase-PCR (RT-PCR). Linkage analysis based on short tandem repeats was carried out to confirm the consanguinity. RESULTS: A small insertional variant c.766dupC (p.Leu256Profs*21) of the NHS gene was identified in the proband and his affected mother, but not among unaffected members and the 100 healthy controls. The variant was unreported in Human Gene Mutation Database (HGMD) and other databases. Based on the ACMG guideline, the variant is predicted to be pathogenic (PVS1+PM2+PM6+PP4). CONCLUSION The novel variant c.766dupC of the NHS gene probably underlay the X-linked dominant Nance-Horan syndrome in this pedigree.
Cataract/genetics* ; Genetic Diseases, X-Linked ; Humans ; Mutation ; Pedigree ; State Medicine ; Tooth Abnormalities

OBJECTIVE: To explore the genetic basis for a pedigree affected with Alport syndrome. METHODS: Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls. RESULTS: A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected members but not the unaffected members of the pedigree or the 100 healthy controls. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.3293G>T variant was classified as pathogenic (PP1-strong+PM1+PM2+PP3+PP4). CONCLUSION By destructing the Gly-X-Y structure of its protein product, the c.3293G>T variant of the COL4A5 gene probably underlies the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COL4A5 variants.

OBJECTIVE: To analyze variant of IDS gene in a pedigree affected with mucopolysaccharidosis type II (MPS II). METHODS: The proband was subjected to next generation sequencing and Sanger sequencing to identify potential variants. Suspected variant was analyzed by its co-segregation with the disease in the pedigree. Its impact on mRNA splicing was analyzed by using reverse transcription PCR (RT-PCR). RESULTS: A hemizygous IVS1-3T>G variant was found in the IDS gene in the proband. RT-PCR results revealed two abnormal cDNA fragments of 600 bp and 300 bp. The 600 bp fragment had inserted 216 nucleotides at the 3' end of intron 1, while the 300 bp fragment had lost 109 nucleotides at the 5' end of exon 2, which resulted in two truncated proteins comprising 38 and 92 amino acids, respectively, instead of the normal product (550 amino acids). The proband and his mother were respectively hemizygous and heterozygous for the variant. The same variant was not found among 100 normal controls. CONCLUSION The IVS1-3T>G variant of the IDS gene probably underlies the MPS II in this pedigree by causing reduction or elimination of the IDS protein.

Objective:To understand the status quo of perception control, self-management and cancer-related fatigue (CRF) in breast cancer patients receiving chemotherapy, and to investigate the impacts of perception control and self-management on CRF.Methods:In this study, 246 breast cancer patients undergoing chemotherapy from Shandong Cancer Hospital and Institute were investigated by means of cross-sectional survey. Cancer experience and efficiency scale was used to evaluate the patients′ perception control; cancer patients′ self-management scale was used to assess their self-management; and Piper Fatigue Scale was used to evaluate their CRF. Finally, the scores of CRF among the patients with different demographic data were compared, and the effects of perception control and self-management behavior on CRF were analyzed.Results:In univariate analysis, there were statistically significant differences of CRF scores resulting from different educational backgrounds ( F=3.392, P=0.019), sources of medical cost ( F=4.368, P=0.005), disease stages ( F=4.376, P=0.005), chemotherapy periods ( F=3.865, P=0.010) and courses of disease ( F=3.094, P=0.028). The differences in each dimension of perceived control cancer experience ( F=7.248, P=0.001), control efficacy ( F=96.595, P<0.001), self-management level of cancer patients ( F=65.009, P<0.001) and CRF ( F=130.973, P<0.001) were statistically significant. Cancer experience in perception control was positively correlated with CRF ( r=0.467, P<0.001); control effectiveness and self-management of cancer patients were negatively correlated with CRF ( r=-0.505, P<0.001; r=-0.564, P<0.001). Multiple linear regression showed that source of medical expenses (setting commercial insurance as the reference group), chemotherapy cycle (setting chemotherapy cycle ≥ 6 cycles as the reference group), cancer experience, control effectiveness, and self-management were entered in regression models, which could explain 55.5% of the total variation in CRF scores, and there was a significant linear relationship ( F=17.100, P<0.001). Conclusion:Medical staff should focus on CRF in patients at their own expense and in the 2-5 chemotherapy cycles. Cancer experience is positively correlated with CRF. Control effectiveness and self-management behavior are negatively correlated with CRF.

OBJECTIVETo assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families.

METHODSPaternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected mutation in the amniotic fluid DNA was verified with Sanger sequencing.

RESULTSThe result of ddPCR and Sanger sequencing indicated that the fetuses have carried pathogenic mutations from the paternal side in both families.

CONCLUSIONDroplet digital PCR can accurately detect paternal mutation carried by the fetus, and it is sensitive and reliable for analyzing trace samples. This method may be applied for the diagnosis of single gene diseases caused by paternal mutation using peripheral blood sample derived from the mother.

Fathers ; Female ; Genetic Diseases, Inborn ; diagnosis ; Humans ; Male ; Maternal Serum Screening Tests ; Mutation ; Polymerase Chain Reaction ; methods ; Prenatal Diagnosis ; methods ; Sequence Analysis, DNA

OBJECTIVETo detect mutations of the XPC (XPC complex subunit, DNA damage recognition and repair factor) gene in a family affected with xeroderma pigmentosum group C (XP-C).

METHODSThe patient was subjected to next-generation sequencing and Sanger sequencing. Suspected mutations were validated by Sanger sequencing. Effect of splicing mutation was confirmed by reverse transcription-PCR (RT-PCR).

RESULTSCompound heterozygous mutations of c.2098G to T and c.2034-7_2040del were found in the XPC gene in the proband. Among these, c.2098G to T (p.G700X) is a nonsense mutation resulting in a truncated XPC protein. C.2034-7_2040del involves the -1 position, which may alter the splice donor site of the intron 11 of XPC and result in a truncated XPC protein with loss of amino acids from 940 to 679 positions. The two mutations were not detected among 100 unrelated healthy controls.

CONCLUSIONMutations of c.2098 G to T and c.2034-7_2040del of the XPC gene may lead to abnormal XPC expression and reduction or elimination of normal XPC functions, which may underlie the disease in this family.

OBJECTIVETo detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.

METHODSGenomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing.

RESULTSA heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls.

CONCLUSIONThe c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.

Adolescent ; Adult ; Amino Acid Sequence ; Female ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Nerve Tissue Proteins ; genetics ; Pedigree ; Syndactyly ; genetics ; Zinc Finger Protein Gli3 ; genetics