OBJECTIVE: To analyze the MYH9 gene sequence of a patient with hereditary thrombocytopenia and diffuse large B-cell lymphoma and his family members, and to explore the relationship between MYH9 gene and tumors. METHODS: Peripheral blood samples were collected from the patients and their family members for complete blood count analysis. The platelet morphology was observed under microscope. The MYH9 gene sequence was analyzed by Whole Exon Sequencing and Sanger Sequencing. RESULTS: The mutation site c.279C>A:p.(Asn93Lys) in exon 2 of the MYH9 gene were found in patient and his family members, both presenting as thrombocytopenia. The platelet count was significantly increased after the administration of Avatrombopag. CONCLUSION A novel mutation of MYH9 was found in this study, and the case was sensitive to Avatrombopag, by exploring the relationship between the MYH9 gene and tumors, suggesting that the MYH9 gene may be associated with the development of diffuse large B-cell lymphoma.
Humans ; Myosin Heavy Chains/genetics* ; Thrombocytopenia/genetics* ; Mutation ; Male ; Lymphoma, Non-Hodgkin/genetics* ; Lymphoma, Large B-Cell, Diffuse/genetics* ; Molecular Motor Proteins/genetics* ; Pedigree

Parkinson's disease (PD) is a progressive neurodegenerative disease with a high clinical heterogeneity. According to its motor symptoms, PD patients are divided into predominant tremor-dominant, postural instability and gait difficulty-dominant/akinetic-rigid and mixed subtypes. Different subtypes show different prognostic characteristics and different sensitivities to drugs. Therefore, the early classification of PD is of great significance for the treatment and prognosis of the disease. This paper reviews the clinical classification methods of different subtypes of PD, summarizes the latest biochemical markers and imaging features, and analyzed the differences in incidence, prognosis and pathological mechanism. The current clinical treatment drugs and methods have been preliminarily targeted for treatment based on PD classification, and there are many animal models of PD subtypes have been studied, providing new methods and strategies for mechanism research and preclinical pharmacodynamics evaluation of PD subtypes.

To give full play to the therapeutic advantages of traditional Chinese medicine （TCM） in sepsis， clarify the entry point of integrated TCM and western medicine， further standardize the clinical treatment of TCM， develop a recognized and integrated treatment protocol of TCM and western medicine， and improve the clinical efficacy on sepsis，the Chinese Association of Chinese Medicine organized TCM and western medicine experts specialized in sepsis treatment to conduct in-depth discussions on the advantages of TCM and integrated TCM and western medicine in the treatment of sepsis based on the TCM etiology and pathogenesis of sepsis， a representative acute and critical disease. They emphasized the pathogenesis characteristics of asthenia of healthy Qi and sthenia of pathogenic factors and summarized the roles of Chinese medicine in correcting the imbalance of inflammatory response， improving blood coagulation dysfunction， and relieving organ damage. Furthermore， they proposed the treatment protocol with integrated TCM and western medicine， which is expected to provide references for actual clinical treatment and scientific research.

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with high morbidity and mortality. There are about 5%-15% of ALS patients combining with frontotemporal lobe degeneration (FTLD) at the same time and 50% of patients combing with cognitive function changes. The analysis of cortical thickness based on MRI is an important imaging method to evaluate brain structure. The aim of the study was to explore the changes of brain structure in ALS patients by cortical thickness analysis, and to explore the correlation between the brain structure and cognitive function. METHODS: In the study, 18 ALS patients treated in Department of Neurology, Peking University Third Hospital and 18 normal controls (age, gender and education level matched) were included. 3D magnetization prepared rapid gradient echo imaging (MPRAGE) sequence MRI was performed and the cortical thickness was analyzed. At the same time, all the ALS patients took neuropsychology assessments, including: mini-mental state examination (MMSE), verbal fluency test (VFT), Stroop color word test (SCWT), prospective memory (PM), emotional picture perception and recognition, and faux pas story test. RESULTS: After cognitive assessment, two ALS patients had cognitive impairment. One was in accordance with ALS-frontotemporal dementia (FTD) diagnosis and the other one was in accordance with ALS cognitive impairment (ALSci) diagnosis. In all the 18 ALS patients and 18 normal controls, the cortical thickness of the left medial orbitofrontal lobe and the medial temporal lobe were significantly reduced (P < 0.05) in ALS group by the vertex-wise comparison. Cortical thickness of the left entorhinal cortex, the left inferior temporal gyrus, the left medial orbitofrontal lobe and the left insular lobe was significantly reduced (P < 0.05) by the region-wise comparison. However, when only concluded the 16 ALS non-cognitive impairment patients, there was no significant difference between the two groups (P>0.05). There were correlations between the scores of prospective memory, emotional picture perception and recognition, faux pas story test and the cortical thickness of their corresponding regions (P < 0.05). CONCLUSION The cortical thickness of ALS patients are correlated with neuropsychological scores which may reflect the changes of cortical structure corresponding to the cognitive assessment, and may provide help for the early diagnosis of cognitive changes in ALS patients.
Humans ; Amyotrophic Lateral Sclerosis/diagnostic imaging* ; Neurodegenerative Diseases ; Frontotemporal Dementia/psychology* ; Neuropsychological Tests ; Cognitive Dysfunction/etiology* ; Magnetic Resonance Imaging/methods*

Objective: To investigate hypertriglyceridemia and hepatomegaly caused by Schisandrae Sphenantherae Fructus (FSS) and Schisandra chinensis Fructus (FSC) oils in mice. Methods: Mice were orally administered a single dose of Schisandrae Fructus oils. Serum and hepatic triglyceride (TG), triglyceride transfer protein (TTP), apolipoprotein B48 (Apo B48), very-low-density lipoprotein (VLDL), hepatocyte growth factor (HGF), alanine aminotransfease (ALT) and liver index were measured at 6-120 h post-dosing. Results: FSS and FSC oil caused time and dose-dependent increases in serum and hepatic TG levels, with maximum increases in the liver (by 297% and 340%) at 12 h post-dosing and serum (244% and 439%) at 24-h post-dosing, respectively. Schisandrae Fructus oil treatments also elevated the levels of serum TTP by 51% and 63%, Apo B48 by 152% and 425%, and VLDL by 67% and 38% in mice, respectively. FSS and FSC oil treatments also increased liver mass by 53% and 55% and HGF by 106% and 174%, but lowered serum ALT activity by 38% and 22%, respectively. Fenofibrate pre/ co-treatment attenuated the FSS and FSC oil-induced elevation in serum TG levels by 41% and 49% at 48 h post-dosing, respectively, but increased hepatic TG contents (by 38% and 33%, respectively) at 12 h post-dosing. Conclusions: Our findings provide evidence to support the establishment of a novel mouse model of hypertriglyceridemia by oral administration of FSS oil (mainly increasing endogenous TG) and FSC oil (mainly elevating exogenous TG).

Objective:To observe the therapeutical effect and the safety of Pinggan Yuyin Qingre recipe on the hyperevaporative dry eye disease （Yin deficiency and Yang hyperactivity type） caused by the meibomian gland dysfunction（MGD）. Method:The 120 Consecutive outpatients who met the criteria were included in the trial and divided into three layers （mild， moderate and severe） according to the meibomian gland function classification （grade 1-3）. The patients in each layer were randomly assigned to the experiment group and the control group at a ratio of 1∶1. Both groups were treated with sodium hyaluronate eye drops， 1 drop/eye/time， 3 times a day. In the experiment group， Pinggan Yuyin Qingre recipe was additionally prescribed two times a day. The treatment course was 8 weeks in both groups. All patients were evaluated at the beginning and end of the study mainly for noninvasive tear breakup time （NITBUT），corneal lesions score，meibomian gland exclusion score，meibomian gland structure，eye symptom score，the ocular surface disease index（OSDI） score，and the traditional Chinese medicine（TCM） syndrome scores at both overall and layered levels. Result:A total of 116 cases completed the study，with 1 drop-out case and 3 eliminated cases. Both before and after treatment，NITBUT，the corneal lesions score，the symptom score，and the OSDI score in the experiment group were significantly superior to the control group， but there was no significant difference in meibomian gland exclusion score between two groups，only with a superior tendency in experiment group. There were significant differences in the scores of the related TCM syndrome scores between two groups after treatment. There were no adverse reactions， no abnormal changes in electro cardiogram （ECG） or liver and kidney functions in all patients. Conclusion:Pinggan Yuyin Qingre recipe can effectively improve the hyperevaporative dry eye disease caused by meibomian gland dysfunction， the tear film stability，eye dryness， burning，itching，foreign body sensation and TCM symptoms of patients with dry eye syndrome of Yin deficiency and Yang hyperactivity. The improvement effect is more obvious in moderate and severe patients. It is an effective，safe，and well-tolerated treatment for the hyperevaporative dry eye.

The transition from spermatogonia to spermatocytes and the initiation of meiosis are key steps in spermatogenesis and are precisely regulated by a plethora of proteins. However, the underlying molecular mechanism remains largely unknown. Here, we report that Src homology domain tyrosine phosphatase 2 (Shp2; encoded by the protein tyrosine phosphatase, nonreceptor type 11 [Ptpn11] gene) is abundant in spermatogonia but markedly decreases in meiotic spermatocytes. Conditional knockout of Shp2 in spermatogonia in mice using stimulated by retinoic acid gene 8 (Stra8)-cre enhanced spermatogonial differentiation and disturbed the meiotic process. Depletion of Shp2 in spermatogonia caused many meiotic spermatocytes to die; moreover, the surviving spermatocytes reached the leptotene stage early at postnatal day 9 (PN9) and the pachytene stage at PN11-13. In preleptotene spermatocytes, Shp2 deletion disrupted the expression of meiotic genes, such as disrupted meiotic cDNA 1 (Dmc1), DNA repair recombinase rad51 (Rad51), and structural maintenance of chromosome 3 (Smc3), and these deficiencies interrupted spermatocyte meiosis. In GC-1 cells cultured in vitro, Shp2 knockdown suppressed the retinoic acid (RA)-induced phosphorylation of extracellular-regulated protein kinase (Erk) and protein kinase B (Akt/PKB) and the expression of target genes such as synaptonemal complex protein 3 (Sycp3) and Dmc1. Together, these data suggest that Shp2 plays a crucial role in spermatogenesis by governing the transition from spermatogonia to spermatocytes and by mediating meiotic progression through regulating gene transcription, thus providing a potential treatment target for male infertility.
Animals ; Cell Cycle Proteins/genetics* ; Cell Line ; Cell Survival ; Chondroitin Sulfate Proteoglycans/genetics* ; Chromosomal Proteins, Non-Histone/genetics* ; Gene Expression Regulation ; Gene Knockdown Techniques ; Infertility, Male ; Male ; Meiosis/genetics* ; Mice ; Mice, Knockout ; Mice, Transgenic ; Phosphate-Binding Proteins/genetics* ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics* ; Rad51 Recombinase/genetics* ; Real-Time Polymerase Chain Reaction ; Spermatocytes/metabolism* ; Spermatogenesis/genetics* ; Spermatogonia/metabolism*

OBJECTIVETo provide a theoretical basis for designing of lumbar intervertebral disc prosthesis by collecting the data of the lumbar endplate morphology.

METHODSA total of 100 healthy adults were measured about the following parameters: lumbar lordosis, the Cobb angle of each segment, the concavity depth (ECD) of the endplate, the location of concavity apex (ECA) of the endplate. And a correlation analysis on lumbar lordosis and ECD, ECA was made, respectively.

RESULTSIn total, 100 volunteers were measured. The mean age of the volunteer was 40 years (range 20 - 50 years); the average depth of ECD was (2. 37 ± 1. 42) mm, the average location of ECA was (52. 21 ± 9. 70) %; the average depth of ECD of inferior endplate (IEP) was (2. 81 ± 1. 52) mm (0. 54 - 7. 60 mm), and the parameter of the superior endplate (SEP) was (1. 94 ± 1. 16)mm(0. 39 - 6. 10 mm). The average depth of ECD of the IEP was bigger than of the SEP for each lumbar vertebral body. Most of the location of ECA was at the back of the intervertebral body, the average location of ECA of IEP was (49. 60 ± 8. 78) % (22. 57% - 75. 58%), and the parameter of the SEP was (55. 03 ± 9. 90) % (16. 03% -75. 58%); the mean angle of lumbar lordosis was 39. 760 11. 25°(13. 8° - 72. 00°). There was no obvious correlation between the lumbar lordosis and the ECD (r -0. 193, P =0. 195), neither was the location of ECA(r =0. 080, P =0. 592).

CONCLUSIONMost of the location of ECA is at the back of the intervertebral body, the average depth of ECD is 2. 37 mm, the average location of ECA is 52. 21%.

Adult ; Humans ; Intervertebral Disc ; Lumbar Vertebrae ; anatomy & histology ; Lumbosacral Region ; anatomy & histology ; Middle Aged ; Prostheses and Implants ; Reference Standards ; Spine ; anatomy & histology ; Young Adult

OBJECTIVETo investigate the effect of iron on the growth, physiology and photosynthesis of cyanobacteria.

METHODSA gradient of iron concentrations was employed to investigate the growth, photo-pigments (chlorophyll A and phycocyanin), and cell chemical contents (C, N, P) of Microcystis aeruginosa in response to different iron additions.

RESULTSThe specific growth rate during the exponential growth phase, as well as the cell chlorophyll A and the phycocyanin content, was limited by iron below 12.3 tmol Fe x L(-1). The growth was inhibited when the iron concentration was at 24.6 micromol Fe x L(-1). The cell chlorophyll A and the phycocyanin content were saturated when the iron concentration was above 12.3 micromol Fe x L(-1) and declined slightly at 24.6 micromol Fe x L(-1). At a low iron concentration (about 6.15 micromol Fe x L(-1) and less), the cell nitrogen and carbohydrate content were iron limited, and the variation of the cell phosphorus content was similar to that of the nitrogen and carbohydrate, with a transition point of 12.3 micromol Fe x L(-1).

CONCLUSIONThe variation of cynobacteria growth is synchronous with that of the photo-pigments or the cell chemical content, and there exist relationships among photosynthesis, growth and internal chemical content, which could be useful for the growth estimation from the cell characteristics.

Carbohydrates ; analysis ; Culture Media ; chemistry ; Dose-Response Relationship, Drug ; Iron ; pharmacology ; Microcystis ; chemistry ; cytology ; drug effects ; physiology ; Nitrogen ; analysis ; Phosphorus ; analysis

OBJECTIVETo characterize the heterotrophic nitrifying bacteria.

METHODSThe bacteria were isolated from membrane bioreactor for treating synthetic wastewater using the method newly introduced in this study. Fluorescence in situ hybridization (FISH) was used to validate the nonexistence of autotrophic ammonia oxidizers and nitrite oxidizers. Batch tests were carried out to investigate the capability of heterotrophic nitrification by the pure culture. Phylogenetic analysis of the pure culture was performed.

RESULTSA heterotrophic nitrifier, named Bacillus sp. LY, was newly isolated from the membrane bioreactor system in which the efficiency of TN removal was up to 80%. After 24-day, incubation, the removal efficiency of COD by Bacillus sp. LY was 71.7%. The ammonium nitrogen removal rate after assimilation nearly ceased by Bacillus sp. LY was 74.7%. The phylogenetic tree of Bacillus sp. LY and the neighbouring nitrifiers were given.

CONCLUSIONSThe batch test results indicate that Bacillus sp. LY can utilize the organic carbon as the source of assimilation when it grows on glucose and ammonium chloride medium accompanying the formation of oxidized-nitrogen. It also can denitrify nitrate while nitrifying. Bacillus sp. LY may become a new bacterial resource for heterotrophic nitrification and play a bioremediation role in nutrient removal.

Bacillus ; classification ; genetics ; isolation & purification ; metabolism ; Base Sequence ; DNA Primers ; DNA, Ribosomal ; genetics ; Environmental Restoration and Remediation ; methods ; Nitrates ; metabolism ; Phylogeny ; RNA, Ribosomal, 16S ; genetics