OBJECTIVE: To analyze the phenotype and genotype of a patient affected with inherited antithrombin deficiency. METHODS: All exons and exon-intron boundaries of the AT genes were subjected to PCR amplification and Sanger sequencing. The influence of variants on the disease was predicted using bioinformatic software (MutationTaster). RESULTS: The results of all coagulation tests were normal, though the antithrombin activity and antigen content of the proband and his father have decreased significantly (34%, 48% and 12.97 mg/dL, 15.60 mg/dL, respectively). His mother was normal. Genetic analysis revealed that the proband and his father both carried a heterozygous g.2736dupT variant of the AT gene. Bioinformatic analysis suggested that the variant may be pathogenic. CONCLUSION The proband and his father both had type I hereditary antithrombin deficiency caused by a g.2736dupT variant of the AT gene. The variant was unreported previously.
Antithrombin III/genetics* ; Antithrombin III Deficiency/genetics* ; DNA Mutational Analysis ; Genetic Testing ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree

Objective:To analyze the phenotype and genotype of two Chinese family with inherited dysfibrinogenemia and the molecular pathogenic mechanism.Methods:In the probands and their family members, coagulation routine, fibrinogen activity(Fg∶A) and fibrinogen antigen(Fg∶Ag) were detected . To find the mutation and exclude single nucleotide polymorphisms, all the exons and exons-intron boundaries of fibrinogen genes ( FGA, FGB and FGG) were amplified by Ploymerase Chain Reaction (PCR), then sequenced. Bioinformatics prediction softwares were used to predict and score the change of function caused by the variant. PyMol were used to analyze the structure of protein caused by the variant. Clustal X software was used to analyze the conservation of the mutant amino acids. Results:The thrombin time(TT) of the two was slightly prolonged and could not be corrected by protamine sulfate, and the fibrinogen activity was significantly reduced (1.25 g/L and 1.17 g/L), but the fibrinogen antigen content was normal, respectively (3.50 g /L and 3.81 g/L). Genetic analysis showed that both probands were heterozygous missense variants( FGB exon 7 c. 1115 T>A (p.Val372Glu)), both of which originated from the paternal line. The prediction results of the four bioinformatics softwares indicate that this variant could be disease causing. Clustal X software showed that Val372 is highly conserved among homologous species. Based on the guidelines of the American College of Medical Genetics and Genomics, c. 1115 T>A was predicted to be likely pathgenic(PM2+ PP1+ PP2+ PP3+ PP4). PyMol shouwed p. Val372Glu variant changes the secondary structure and three-dimensional structure of fibrinogen protein were changed caused by p. Val372Glu variant. Conclusion:Inherited dysfibrinogenemia of the probands maybe caused by variant of FGB c. 1115 T>A(p.Val372Glu), and the variant was firstly reported.

Humans ; Male ; Middle Aged ; Multiple Myeloma ; complications ; diagnosis ; Spondylitis, Ankylosing ; complications

INTRODUCTION: Nursing home (NH) residents with out-of-hospital cardiac arrests (OHCA) have unique resuscitation priorities. This study aimed to describe OHCA characteristics in NH residents and identify independent predictors of survival. MATERIALS AND METHODS: OHCA cases between 2010-16 in the Pan-Asian Resuscitation Outcomes Study were retrospectively analysed. Patients aged <18 years old and non-emergency cases were excluded. Primary outcome was survival at discharge or 30 days. Good neurological outcome was defined as a cerebral performance score between 1-2. RESULTS: A total of 12,112 cases were included. Of these, 449 (3.7%) were NH residents who were older (median age 79 years, range 69-87 years) and more likely to have a history of stroke, heart and respiratory diseases. Fewer NH OHCA had presumed cardiac aetiology (62% vs 70%, <0.01) and initial shockable rhythm (8.9% vs 18%, <0.01), but had higher incidence of bystander cardiopulmonary resuscitation (74% vs 43%, <0.01) and defibrillator use (8.5% vs 2.8%, <0.01). Non-NH (2.8%) residents had better neurological outcomes than NH (0.9%) residents ( <0.05). Factors associated with survival for cardiac aetiology included age <65 years old, witnessed arrest, bystander defibrillator use and initial shockable rhythm; for non-cardiac aetiology, these included witnessed arrest (adjusted odds ratio [AOR] 3.8, <0.001) and initial shockable rhythm (AOR 5.7, <0.001). CONCLUSION Neurological outcomes were poorer in NH survivors of OHCA. These findings should inform health policies on termination of resuscitation, advance care directives and do-not-resuscitate orders in this population.

Phytoremediation plays an important role in the treatment of heavy metal pollution in soil. In order to elucidate the mechanism of salicylic acid (SA) on copper absorption, seedlings from Xuzhou (with strong Cu-tolerance) and Weifang Helianthus tuberosus cultivars (with weak Cu-tolerance) were selected for pot culture experiments. 1 mmol/L SA was sprayed upon 300 mg/kg soil copper stress, and the photosynthesis, leaf antioxidant system, several essential mineral nutrients and the changes of root upon copper stress were analyzed to explore the mechanism of copper resistance. The results showed that Pn, Tr, Gs and Ci upon copper stress decreased significantly compared to the control group. Meanwhile, chlorophyll a, chlorophyll b and carotenoid decreased with significant increase in initial fluorescence (F₀), maximum photochemical quantum yield of PSⅡ (Fv/Fm), electron transfer rate (ETR) and photochemical quenching coefficient (qP) content all decreased. The ascorbic acid (AsA) content was decreased, the glutathione (GSH) value was increased, the superoxide dismutase (SOD), catalase (CAT) and ascorbate peroxidase (APX) activity in the leaves were decreased, and the peroxidase (POD) activity was significantly increased. SA increased the Cu content in the ground and root system, and weakened the nutrient uptake capacity of K, Ca, Mg, and Zn in the root stem and leaves. Spray of exogenous SA can maintain the opening of leaf stomata, improve the adverse effect of copper on photosynthetic pigment and PSⅡ reaction center. Mediating the SOD and APX activity started the AsA-GSH cycle process, effectively regulated the antioxidant enzyme system in chrysanthemum taro, significantly reduced the copper content of all parts of the plant, and improved the ion exchange capacity in the body. External SA increased the content of the negative electric group on the root by changing the proportion of components in the root, promoted the absorption of mineral nutrient elements and the accumulation of osmoregulatory substances, strengthened the fixation effect of the root on metal copper, and avoided its massive accumulation in the H. tuberosus body, so as to alleviate the inhibitory effect of copper on plant growth. The study revealed the physiological regulation of SA upon copper stress, and provided a theoretical basis for planting H. tuberosus to repair soil copper pollution.
Antioxidants ; Copper ; Helianthus/metabolism* ; Salicylic Acid/pharmacology* ; Chlorophyll A/pharmacology* ; Spectroscopy, Fourier Transform Infrared ; Chlorophyll/pharmacology* ; Ascorbic Acid ; Superoxide Dismutase/metabolism* ; Photosynthesis ; Glutathione ; Plant Leaves ; Stress, Physiological ; Seedlings