Objective To investigate the characteristics of muscle edema and fatty infiltration in thighs and relationship with clinical symptoms in Chinese patients with different phenotypes of dysferlinopathy.Methods A total of 32 patients were enrolled , including 13 limb-girdle muscular dystrophy 2B (LGMD2B), 13 Miyoshi myopathy (MM), 4 proximodistal myopathy and 2 hyper-creatine-kinase-emia.Clinical symptoms were evaluated using modified Gardner-Medwin and Walton ( GM-W) score.Muscle MRI was performed in thighs to observe fatty infiltration and edema.We then compared the age of onset , disease duration, GM-W score, muscle edema and muscle fatty infiltration between LGMD 2B and MM groups,and the relationship of muscle edema score and fatty infiltration score with disease duration and GM-W score in all patients.Results The median GM-W score was 4.00 (2.00,5.00) in all patients, 4.00 (3.00,4.50)in LGMD2B and 4.00(2.00,5.00)in MM, respectively.Muscle fatty infiltration appeared in 30 cases (93.75%), with the same pattern in LGMD2B and MM.The mean fatty infiltration score was 28.20 ±12.86 in all patients, 28.50 ±13.03 in LGMD2B and 29.00 ±12.63 in MM, respectively.Muscle edema appeared in 26 cases (81.25%) with same pattern in LGMB2B and MM.The mean edema score was 18.36 ±13.60 in all patients, 22.88 ±11.59 in LGMD2B and 16.77 ±13.80 in MM.The age of onset , disease duration, GM-W score, muscle fatty infiltration and edema score were not significantly different between LGMD2B and MM patients.Muscle fatty infiltration score significantly correlated with GM-W score (rs=0.737,P=0.000) and disease duration (rs=0.637,P=0.000).Conclusions Fatty infiltration and edema in thigh muscles are very common in patients with dysferlinopathy , with similar radiological changes in main subtypes.The muscle fatty infiltration can be used as a predictor of disease progression.

Objective To design an air-cushioned belt for skin traction of lower extremities to reduce the incidence of deep vein thrombosis and pressure ulcers in patients with lower limb fractures. Methods The belt was composed of upper and lower leggings.The legging had an air cushion at its interior surface,and the air cushion consisted of several chambers.There was a connecting tube between every two chambers, and each tube was equipped with a pressure non-return valve. The chamber on the top of the cushion had a charging mechanism for inflation.Totally 100 patients from June to December 2016 were selected and divided equally into an experiment group and a control group.The experiment group used the developed air-cushioned belt,and the control group applied the traditional one.The incidence rates of deep venous thrombosis of lower limbs were compared in the two groups,and χ2test was carried out on the results.Results There were no cases of pressure ulcers and deep venous thromboses of lower limbs occurred in the experiment group,while 5 cases of deep venous thromboses of lower limbs and 4 cases of pressure ulcer happened in the control group,and there were significant differences between the incidence rates in the groups(P<0.05).Conclusion The air-cushioned belt has easy operation,relieves the patients'pains and the nurses'workload when used to prevent deep venous thrombosis of lower limbs and pressure ulcer,and thus is worthy promoting clinically.

OBJECTIVE Despite the status of cisplatin (DDP) as a classical chemotherapeutic agent in the treatment of cancer, the development of multidrug resistance often leads to a failure of DDP therapy.Traditional Chinese medicine(TCM)as adjuvant chemotherapy of cancer drugs in China has been widely used in cancer treatment.ZuoJin WAN (ZJW),a TCM formula,was proved reversing drug resistance in gastric cancer,but its exact mechanism was still unclear. METHODS CCK-8 assay was used to detect the cell viability. The levels of proteins and mRNA were evaluated using Western blot and q-PCR. Mitochondrial membrane potential was measured by fl ow cytometry. Depolymerisa-tion of F-actin and translocation of G-actin(gamma-actin)from the cytoplasm to the mitochondria was detected using an immuno fl uorescence assay. RESULTS phosphorylated coflin-1 (p-coflin-1) was overexpressed in the DDP-resistant human gastric cancer cell lines SGC7901/DDP and BGC823/DDP, relative to the respective parent cell lines(SGC7901 and BGC823),and DDP induced the dephosphory-lation of p-coflin-1 in both parent lines but not in the DDP-resistant lines. However, ZJW could induce the dephosphorylation of pcoflin-1 and promote coflin-1 translocation from the cytoplasm into the mito-chondria in both SGC7901/DDP and BGC823/DDP cells. This mitochondrial translocation of coflin-1 was found to induce the conversion of flamentous actin to globular-actin, activate mitochondrial dam-age and calcium overloading, and induce the mitochondrial apoptosis pathway. These effects of ZJW on DDP-resistant human gastric cancer cell lines could be reversed via transfection with coflin-1-specifc siRNA,or treatment with a PP1 and PP2A inhibitor.CONCLUSION ZJW can be used as an inhibitor of chemoresistance in gastric cancer, which may partly be due to dephosphorylation of p-coflin-1 via the activation of PP1 and PP2A.

AIM: To investigate the clinical features of fundus diseases of familial congenital nystagmus.?METHODS: Totally 40 eyes of 20 nystagmus patients from 3 congenital nystagmus families were enrolled in our study. The eye position, refractive error, anterior segment and fundus, including fundus photograph, optical coherence tomography ( OCT) , and visual evoked potential ( VEP) were performed on them.?RESULTS: There were 8 patients in Family A, all of which were horizontal nystagmus, in that 6 cases of strabismus ( 2 of which combined with compensatory head posture) , 2 cases of nuclear cataract, 2 cases of posterior polar cataract, 1 case of retinopathy of prematurity, 2 cases of severe ametropia. There were 6 patients in Family B, all of which were horizontal nystagmus, in that 3 cases of albinism ( 2 of which combined with macular hypoplasia) , 2 cases of severe ametropia, 1 case of achromatopsia, 1 case of nuclear cataract. There were 6 patients in Family C (5 of which were horizontal nystagmus and 1 rotatory nystagmus) ,2 cases of Leber congenital amaurosis, 1 case of familial exudative vitreoretinopathy, 2 cases of posterior polar cataract, 1 case of iris atrophy, 2 cases of strabismus.?CONCLUSION:We have to do detailed examinations on patients suffered from familial congenital nystagmus to understand its causes and to improve their visual functions as well as possible.

Objective To investigate the potential roles of chromogranin A in pathogenesis of asthmatic inflammation,and to assess the regulation of montelukast on chromogranin A expression.Methods The rat asthma model was established with ovalbumin,and they were allocated to three groups,named asthma group,control group and montelukast group.The expressions of chromogranin A protein and mRNA at lung tissue were detected by immunohistochemisty or real-time PCR methods,and positive expression intensity of chromogranin A protein was assayed by optical density.The correlation between chromogranin A protein and mRNA was also analyzed.Results The expression levels of chromogranin A protein in asthma group(0.34 ±0.05 optical density)was significantly higher than that in control group (0.21 ±0.06 optical density)(P<0.01 ).The expression levels of chromogranin A mRNA in asthma group (4.02 ±0.95 relative quantity value)was significantly higher than that in control group(P<0.01 ).The expression levels of chromogranin A protein in montelukast group(0.28 ±0.04 optical density)was dramatically lower than that in asthma group (0.34 ±0.05 optical density)(P<0.05),while there were no statistical significance of chromogranin A mRNA(3.67 ±0.78 relative quantity value)between those two groups(P>0.05 ).But levels of mRNA was positively correlated with protein of chromogranin A (r=0.635,P<0.01).Conclusion Expressions of chromogranin A protein and mRNA at lung tissue were increased in asthmatic rats,and the results demonstrated that chromogranin A perhaps participated in the pathogenesis of asthma inflammation,but this function of chromogranin A protein could be down regulated by montelukast.

OBJECTIVETo identify non-invasive biomarkers for diagnosis and/or prognosis of liver fibrosis in chronic hepatitis B (CHB).

METHODSPeripheral blood samples were obtained from 48 patients with CHB, including 24 with mild fibrosis (stage 1, S1) and 24 with severe fibrosis (stage 4, S4), and subjected to Ficoll density gradient centrifugation in order to obtain enriched samples of peripheral blood mononuclear cells (PBMCs).The PBMC proteomes of the two groups were assessed by first separating the total proteins by two-dimensional gel electrophoresis (2DE) and then identifying the differentially expressed proteins by liquid chromatography combined with tandem mass spectrometry (LCMS/MS).

RESULTSThe enriched PBMC samples from the S1 group and the S4 group had similar amounts of platelets [(19.268+/- 6.413) * 109/L and(19.480+/- 6.538) * 109/L, respectively); however, for both, the platelet amounts were 5 to 15-fold lower than that of the normal reference (100-300 *109/L). There was no significant difference found between the platelet amounts in the S1 patients and healthy controls (P=0.930). Twelve differentially expressed proteins were identified through 2DE-LC-MS/MS, including proteins such as moesin and NADH dehydrogenase [ubiquinone] iron-sulfur protein 3 that are involved in various biological processes like cell movement, cell adhesion, kinase signaling and transcription.

CONCLUSIONs The 12 proteins with differential expression in S1 and S4 patients with CHB and liver fibrosis may represent markers related to development and/or progression of liver fibrosis.

Biomarkers ; Disease Progression ; Electrophoresis, Gel, Two-Dimensional ; Hepatitis B, Chronic ; complications ; Humans ; Leukocytes, Mononuclear ; chemistry ; metabolism ; Liver Cirrhosis ; etiology ; metabolism ; pathology ; Mass Spectrometry ; Prognosis ; Proteome ; Proteomics ; Tandem Mass Spectrometry

SARS-CoV-2 has posed a significant threat to a subset of the patient population.The occurrence of hematological malignancies and tumor treatment can lead to immunosuppression in patients,which significantly increases the risk of serious complications,severe incidence and mortality after SARS-CoV-2 infection.The treatment of a patient with follicular lymphoma infected with SARS-CoV-2 was described in detail.The patient remained positive for RT-PCR tests during the hospitalization for nearly 90 days.After undergoing 5 rounds of antiviral treatment,along with glucocorticoid anti-inflammatory therapy,low-molecular-weight heparin for anticoagulation,antibiotics for infection control,and respiratory support through the use of a ventilator,the patient eventually obtained negative result of the RT-PCR test.Subsequently,the patient was successfully weaned from mechanical ventilation and discharged.By summarizing the treatment process of this case,we hoped to provide reference and experience for future clinical diagnosis and treatment.

This study was aimed to evaluate the frequencies and prognostic significance of the nucleophosmin 1 (NPM1) mutation, the fms-like tyrosine kinase 3 (FLT3) mutation and c-KIT mutation in acute myeloid leukemia (AML) and to explore their relevance to clinical characteristics, cytogenetics and survival. Genomic DNA from 78 newly diagnosed AML from August 2010 to October 2012 was screened by PCR and sequencing or capillary electrophoresis (CE) for NPM1, FLT3 and c-KIT mutations. The results showed that the incidence of NPM1 mutation was 14.1% in AML patients and 26.7% in normal karyotype AML patients. NPM1 mutant cases were significantly associated with old age (P < 0.05), high peripheral white cell count and platelet counts (P < 0.05) and low expression of CD34 (P < 0.05), but no statistic difference was found in sex, percentage of bone marrow blasts, Hb, expression of CD117 and HLA-DR, complete remission rate, overall survival and relapse rate (P > 0.05). The prevalences of FLT3-ITD and FLT3-TKD mutations were 11.5% (9/78) and 3.8% (3/78) respectively, and no one patient has both of the two mutations. Patients with FLT3-ITD mutation had higher white blood cell counts and percentage of in bone marrow blasts (P < 0.05), and lower overall survival (P < 0.05), more relative to normal karyotype (P < 0.05), while no statistic difference was found in sex, age, platelet count, Hb level, complete remission rate and relapse rate (P > 0.05). No statistic analysis was performed due to the cases of less FLT3-TKD mutation. C-KIT mutation accounts for 7.7% (6/78). Patients with C-KIT mutation had a higher percentage in abnormal karyotype (P < 0.05), and higher relapse rate (P < 0.05), and lower overall survival, whereas no statistic difference was found in sex, age, percentage of bone marrow blasts, peripheral blood cell count, complete remission rate (P > 0.05). It is concluded that the detection of NPM1, FLT3 and C-KIT mutations may contribute to guiding treatment and evaluating prognosis of patients with AML.
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; diagnosis ; genetics ; Male ; Middle Aged ; Mutation ; Nuclear Proteins ; genetics ; Prognosis ; Proto-Oncogene Proteins c-kit ; genetics ; Young Adult ; fms-Like Tyrosine Kinase 3 ; genetics

OBJECTIVE: To study the reference ranges of platelet and related parameters within 24 hours after birth in preterm infants with different gestational ages. METHODS: According to the inclusion and exclusion criteria, a retrospective analysis was performed for the chart review data of 1 070 preterm infants with a gestational age of 23-36 weeks who were admitted to the neonatal intensive care unit from January to December in 2018. The reference ranges of platelet parameters were calculated for the preterm infants within 24 hours after birth. RESULTS: There were no significant differences in platelet count (PLT) and plateletcrit (PCT) among the preterm infants with different gestational ages (P>0.05). The late preterm infants (34-36 weeks; n=667) had significantly lower mean platelet volume (MPV) and platelet distribution width (PDW) than the extremely preterm infants (23-27 weeks; n=36) and the early preterm infants (28-33 weeks; n=367) (P<0.05). There were no significant differences in these platelet parameters between the preterm infants with different sexes (P>0.05). The reference ranges of platelet parameters in preterm infants were calculated based on gestational age. The reference ranges of PLT and PCT were (92-376)×10/L and 0.1%-0.394% respectively, for the preterm infants with a gestational age of 23-36 weeks. The reference ranges of MPV and PDW were 9.208-12.172 fl and 8.390%-16.407% respectively, for the preterm infants with a gestational age of 23-36 weeks; the reference ranges of MPV and PDW were 9.19-11.95 fl and 9.046%-15.116% respectively, for the preterm infants with a gestational age of 34-36 weeks. CONCLUSIONS The MPV and PDW of preterm infants with different gestational age are different within 24 hours after birth, and it is more helpful for clinical practice to formulate the reference range of MPV and PDW according to gestational age.
Blood Platelets ; Gestational Age ; Humans ; Infant, Newborn ; Mean Platelet Volume ; Reference Values ; Retrospective Studies

This study investigated the characteristics of gut microbiota imbalance in patients with infectious diarrhea caused by various pathogenic infections,and the role of Bacteroides in maintaining homeostasis in the intestinal environment.The gut microbiota in patients with diarrhea caused by pathogenic infections,such as viral and bacterial infections,was determined through full-length 16S rRNA amplicon sequencing.Patients with diarrhea were grouped and analyzed according to the presence of single bacterial infection,single viral infection,mixed infection,or Clostridioides difficile infection.Bacteroides had the highest absolute number and relative abundance in the gut microbiota in healthy people,whereas patients with infectious diar-rhea showed lower relative abundance of Bacteroides at each phylum/order/family/genus taxonomic level.Alpha diversity anal-ysis indicated no significant differences among groups.NMDS and PCoA indicated formation of distinct clusters in the control group compared with the different infectious diarrhea groups.The diversity of the gut microbiota was higher in the control group than the infectious diarrhea groups.Patients with infec-tious diarrhea caused by different pathogens showed differing predominant gut microbiota.Bifidobacterium predominated in the single viral infection group,Streptococcus predominated in the single bacterial infection group,and Lachnoclostridium predominated in the mixed infection group.Escherichia and Klebsiella were the major gut microbiota in the C.difficile infection group.Meanwhile,the dominant gut microbiota in the healthy population was Bacteroides.COG function prediction revealed that the healthy control group formed a distinct cluster from the different infection groups.The functions of defense mechanisms,cell wall synthesis,protein modification,cellular differentiation,and replication and recombination were signifi-cantly diminished in all infectious diarrhea groups.In general,patients with infectious diarrhea caused by different pathogens showed dysbiosis,with diminished gut microbiota diversity and the emergence of related biomarkers.Our findings indicated that Bacteroides has a key role in maintaining the homeostasis of the human intestinal environment,thus providing new ideas for the subsequent treatment of infectious diarrhea and research in other fields.