Objective: To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura (cTTP) and explore its standardized clinical diagnosis and treatment along with a review of literature. Methods: Clinical data of patients, such as age of onset, disease manifestation, personal history, family history, and misdiagnosed disease, were collected. Treatment outcomes, therapeutic effects of plasma infusion, and organ function evaluation were observed. The relationship among the clinical manifestations, treatment outcomes, and ADAMTS13 gene mutation of patients with cTTP was analyzed. Additionally, detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored. Results: The age of onset of cTTP was either in childhood or adulthood except in one case, which was at the age of 1. The primary manifestations were obvious thrombocytopenia, anemia, and different degrees of nervous system involvement. Most of the patients were initially suspected of having immune thrombocytopenia. Acute cTTP was induced by pregnancy and infection in two and one case, respectively. ADAMTS13 gene mutation was detected in all cases, and there was an inherent relationship between the mutation site, clinical manifestations, and degree of organ injury. Therapeutic or prophylactic plasma transfusion was effective for treating cTTP. Conclusions: The clinical manifestations of cTTP vary among individuals, resulting in frequent misdiagnosis that delays treatment. ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP. Prophylactic plasma transfusion is vital to prevent the onset of the disease.
Female ; Pregnancy ; Humans ; Adult ; Blood Component Transfusion ; Plasma ; Purpura, Thrombotic Thrombocytopenic/therapy* ; Mutation ; Purpura, Thrombocytopenic, Idiopathic ; ADAMTS13 Protein/therapeutic use*

Humans ; Factor XIII/genetics* ; Factor XIII Deficiency/genetics* ; Mutation ; Pedigree

Objective: To investigate the effects and clinical significance of NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome activated by interleukin (IL)-17A in chronic rhinosinusitis with nasal polyps (CRSwNP). Methods: Patients underwent nasal endoscopic surgery in the Third Affiliated Hospital of Sun Yat-sen University from January 2020 to December 2021 were collected, including 28 CRSwNP (including 19 males and 9 females, aged 19 to 67 years), 22 chronic rhinosinusitis without nasal polyps (CRSsNP) and 22 controls. qRT-PCR was used to detect the expressions of IL-17A, NLRP3, IL-1β and IL-18 in the three groups, and their correlations were analyzed. The positions of IL-17A, NLRP3 and IL-18 in nasal polys were analyzed by immunofluorescence. Western Blotting and ELISA were employed to detect the expression of NLRP3, IL-1β and IL-18 in the human nasal epithelial cells after using IL-17A stimulation or IL-17A receptor inhibitor. Immunofluorescence was used to observe the NLRP3, IL-1β, and IL-18 protein expression after IL-17A stimulating human nasal epithelial cells, and after the use of IL-17A receptor inhibitor and NLRP3 inhibitor MCC950. The correlations between NLRP3, IL-1β, IL-18 and CT scores, nasal endoscopic scores, visual analogue scale (VAS) scores, and sino-nasal outcome test (SNOT) 22 scores of CRSwNP patients were analyzed. SPSS 20.0 software was used for statistical analysis. Results: The expressions of IL-17A, NLRP3, IL-1β and IL-18 in the tissues of CRSwNP patients were significantly higher than those in CRSsNP group(P=0.018,P<0.001,P=0.005, P=0.016) and the control group(all P<0.001). IL-17A was positively correlated with the expression of NLRP3, IL-1β, and IL-18(r ralue was 0.643,0.650,0.629,respectively, all P<0.05). IL-17A, NLRP3, and IL-18 were co-localized in the epithelial propria of polyp tissue. IL-17A stimulated the expressions of NLRP3, IL-1β, and IL-18 in human nasal epithelial cells. After the use of IL-17A receptor inhibitor, the expressions of NLRP3, IL-1β, and IL-18 were significantly down-regulated. After the use of NLRP3 inhibitor MCC950, IL-17A was significantly down-regulated to promote the expression of NLRP3, IL-1β, and IL-18. The expressions of NLRP3, IL-1β and IL-18 were positively correlated with CT, nasal endoscopy, VAS, and SNOT22 scores in patients with CRSwNP. Conclusions: IL-17A promotes the release of IL-1β and IL-18 by activating the NLRP3 inflammasome and aggravates the severity of the disease in CRSwNP.
Female ; Humans ; Male ; Chronic Disease ; Clinical Relevance ; Inflammasomes ; Interleukin-17/metabolism* ; Interleukin-18 ; Nasal Polyps/metabolism* ; NLR Family, Pyrin Domain-Containing 3 Protein ; Rhinitis/metabolism* ; Sinusitis/metabolism* ; Young Adult ; Adult ; Middle Aged ; Aged

OBJECTIVE: To compare the safety and nail placement accuracy of fluoroscopy-assisted and robot-assisted minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) in the treatment of single-space lumbar disc herniation. METHODS: The clinical data of 52 patients with single-space lumbar disc herniation treated by MIS-TLIF from March 2019 to February 2020 were retrospectively analyzed. Among them, 24 patients were treated by robot-assisted MIS-TLIF(group A) and 28 patients were treated by fluoroscopy-assisted MIS-TLIF (group B). The intraoperative blood loss, operation time, intraoperative fluoroscopy times, preoperative and postoperative visual analogue scale(VAS), Japanese Orthopaedic Association(JOA) scores and operation-related complications were recorded in two groups. Gertzbein-Robbins grade according to CT scan was used to evaluate the nail placement after operation. Grade A and B were evaluated as satisfactory nail placement, and grade C, D, and E were evaluated as error placement. Babu's method was used to evaluate the screw's invasion to the superior articular process. RESULTS: The operation time, intraoperative blood loss and intraoperative fluoroscopy times in group A were less than those in group B(P<0.05).VAS and JOA scores of all patients at the final follow-up were significantly improved compared with those before operation(P<0.05), but there was no statistically significant difference between the groups(P>0.05). There were 96 and 112 screws in group A and group B, respectively. Three days after operation, according to the Gertzbein-Robbins grade to evaluate the nail placement accuracy, there were 90 screws of grade A, 5 of grade B, 1 of grade C, no grade D and E in group A;there were 84 screws of grade A, 16 of grade B, 8 of grade C, 4 of grade D, no grade E in group B;the difference between two groups was statistically significant(Z=-3.709, P=0.000). The satisfactory rate of screw placement in group A was 98.96% (95/96), and that of group B was 89.29% (100/112), the difference between two groups was statistically significant (χ²=8.254, P=0.004). Three days after operation, the invasion of superior facet joints by pedicle screws was evaluated according to Babu's method, including 90 screws in grade 0, 4 in grade 1, 2 in grade 2, and 0 in grade 3 in group A;86 in grade 0, 12 in grade 1, 10 in grade 2 and 4 in grade 3 in group B, and the difference was statistically significant(Z=-3.433, P=0.001). There were no serious spinal cord, nerve and vascular injuries and other operation-related complications caused by screw implantation failure in both groups. All patients were followed up from 6 to 12(9.06±1.60) months. The neurological symptoms improved well after operation. During the follow-up period, there was no recurrence of symptoms, loosening or breakage of the internal fixation. CONCLUSION Compared with the traditional fluoroscopy-assisted MIS-TLIF, the spinal robot-assisted MIS-TLIF not only has more minimally invasive and safer, but also has higher accuracy in nail placement, lower incidence of upper articular process invasion, and more accurate decompression targets, which can be used for minimally invasive treatment of single-space lumbar disc herniation.
Case-Control Studies ; Fluoroscopy ; Humans ; Intervertebral Disc Displacement/surgery* ; Lumbar Vertebrae/surgery* ; Minimally Invasive Surgical Procedures/methods* ; Pedicle Screws ; Retrospective Studies ; Robotics ; Spinal Fusion/methods* ; Treatment Outcome

OBJECTIVE: To investigate whether co-transfection of wild-type VWFpp with VWF mutant in D1 region is able to correct VWF defects in biosynthesis and secretion. METHODS: Four VWF mutant plasmids were single transfected into HEK 293 cells, or co-transfected into HEK 293 cells with the wild type VWFpp plasmids. The VWF in supernatant and lysate of transfected cells were analyzed by ELISA, vertical VWF multimer electrophoresis. The retention of VWF in endoplasmic reticulum of transfected cells were detected by immunofluorescence confocal microscope. RESULTS: In the vertical VWF multimer analysis, with co-expressing VWF mutant and VWFpp, the VWF multimer bands disappeared, and the VWF antigen in both supernatant and lysate of cells decreased, compared with the single expression of VWF mutant. Although the intracellular levels of VWF antigens decreased after co-expression, the retention rate of VWF mutant decreased in endoplasmic reticulum. CONCLUSION VWFpp can reduce the retention of VWF in endoplasmic reticulum, assists the transport of VWF between subcellular organelles. However, VWFpp inhibits the biosynthesis and secretion of VWF about the mutant in D1 domain.
HEK293 Cells ; Humans ; von Willebrand Diseases ; von Willebrand Factor/metabolism*

In the context of the global pandemic of COVID-19, the epidemic intensity, epidemic characteristics and infection risk of influenza have presented new features. COVID-19 and influenza have simultaneously emerged in many regions of the world. COVID-19 and influenza are similar in terms of transmission mode, clinical symptoms and other aspects. There are also similarities in the mechanism of influenza virus and novel coronavirus on cells. At the same time, it is feasible and significant to do a good job in the prevention and control of COVID-19 and influenza. This paper discusses the relevant strategies and measures for the joint prevention and control of influenza and novel coronavirus from the aspects of influenza vaccination to prevent co-infection, simultaneous vaccination of influenza vaccine and novel coronavirus vaccine, etc., and puts forward corresponding thoughts and suggestions, in order to provide scientific support for the formulation of strategies on seasonal influenza vaccine and novel coronavirus vaccination.
Humans ; Influenza Vaccines ; Influenza, Human/epidemiology* ; COVID-19 Vaccines ; COVID-19/prevention & control* ; Seasons ; Vaccination ; SARS-CoV-2

Intracorporeal classic gastrointestinal anastomosis using circular stapler in totally laparoscopic gastrectomy (TLG) for gastric cancer requires intracorporeal anvil placement and suitable access for introduction of the circular stapler to the abdominal cavity without gas leak. The novel techniques for anvil placement have been updated, but there is no progress for proper access for circular stapler. In the study, intracorporeal circular-stapled gastrointestinal anastomosis were successfully accomplished using a novel device of sealed cap access with a central hole (WLB-60/70-60/100, Wuhan Widerep Medical Instrument Co.,Ltd, China) customized to the incision protection retractor for the simple and accessible introduction of the circular stapler and anvil under the optimal maintenance of pneumoperitoneum pressure in TLG. In these 3 cases, there was no gas leakage and the pneumoperitoneum was well maintained when performing the gastrointestinal anastomosis, and there was no transition to laparotomy or other anastomosis techniques. The result suggests that the sealed cap access could be a novel choice for introduction of the circular stapler to the abdominal cavity in order to obtain laparoscopic circular-stapled gastroin-testinal anastomosis in TLG.
Anastomosis, Surgical ; China ; Gastrectomy ; Humans ; Laparoscopy ; Stomach Neoplasms/surgery* ; Surgical Stapling

Long duty hours have been associated with significant medical errors, adverse events, and physician “burn-out”. An innovative night float (NF) system has been implemented in our internal medicine program to reduce the negative effects of long duty hours associated with conventional full-call systems. However, concerns remain if this would result in inadequate training for interns. We developed a structured questionnaire to assess junior doctors’ perceptions of the NF system compared to full calls, in areas of patient safety, medical training, and well-being. Ninety-seven (71%) of the 137 doctors polled responded. Ninety-one (94%) felt the NF system was superior to the full call system. A strong majority felt NF was beneficial for patient safety compared to full call (94% vs. 2%, p<0.001). The NF system was also perceived to reduce medical errors (94% vs. 2%, p<0.001) and reduce physician “burn-out” (95% vs. 5%, p<0.001). Beyond being a practical solution to duty-hour limitations, there was a significant perceived benefit of the NF system compared to the full call in terms of overall satisfaction, patient safety, reducing medical errors and physician “burn-out”.

The aim of this study was to investigate whether G protein-coupled estrogen receptor (GPER) could alleviate hippocampal neuron injury under cerebral ischemia-reperfusion injury (CIRI) by acting on endoplasmic reticulum stress (ERS). The CIRI animal model was established by middle cerebral artery occlusion (MCAO). Female ovariectomized (OVX) Sprague-Dawley (SD) female rats were randomly divided into 4 groups: control, ischemia-reperfusion injury (MCAO), vehicle (MCAO+DMSO), and GPER-specific agonist G1 (MCAO+G1) groups. The neurobehavioral score was assessed by the Longa score method, the morphological changes of the neurons were observed by the Nissl staining, the cerebral infarction was detected by the TTC staining, and the neural apoptosis in the hippocampal CA1 region was detected by TUNEL staining. The distribution and expression of GRP78 (78 kDa glucose-regulated protein 78) in the hippocampal CA1 region were observed by immunofluorescent staining. The protein expression levels of GRP78, Caspase-12, CHOP and Caspase-3 were detected by Western blot, and the mRNA expression levels of GRP78, Caspase-12, and CHOP were detected by the real-time PCR. The results showed that the neurobehavioral score, cerebral infarct volume, cellular apoptosis index, as well as GRP78, Caspase-12 and CHOP protein and mRNA expression levels in the MCAO group were significantly higher than those of control group. And G1 reversed the above-mentioned changes in the MCAO+G1 group. These results suggest that the activation of GPER can decrease the apoptosis of hippocampal neurons and relieve CIRI, and its mechanism may involve the inhibition of ERS.
Animals ; Apoptosis ; Brain Ischemia ; CA1 Region, Hippocampal ; cytology ; Caspase 12 ; metabolism ; Caspase 3 ; metabolism ; Endoplasmic Reticulum Stress ; Female ; Heat-Shock Proteins ; metabolism ; Neurons ; cytology ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Receptors, Estrogen ; physiology ; Receptors, G-Protein-Coupled ; agonists ; Reperfusion Injury ; Transcription Factor CHOP ; metabolism

Long duty hours have been associated with significant medical errors, adverse events, and physician “burn-out”. An innovative night float (NF) system has been implemented in our internal medicine program to reduce the negative effects of long duty hours associated with conventional full-call systems. However, concerns remain if this would result in inadequate training for interns. We developed a structured questionnaire to assess junior doctors’ perceptions of the NF system compared to full calls, in areas of patient safety, medical training, and well-being. Ninety-seven (71%) of the 137 doctors polled responded. Ninety-one (94%) felt the NF system was superior to the full call system. A strong majority felt NF was beneficial for patient safety compared to full call (94% vs. 2%, p<0.001). The NF system was also perceived to reduce medical errors (94% vs. 2%, p<0.001) and reduce physician “burn-out” (95% vs. 5%, p<0.001). Beyond being a practical solution to duty-hour limitations, there was a significant perceived benefit of the NF system compared to the full call in terms of overall satisfaction, patient safety, reducing medical errors and physician “burn-out”.
After-Hours Care ; Asian Continental Ancestry Group ; Education, Medical ; Humans ; Internal Medicine ; Medical Errors ; Patient Safety ; Patient Satisfaction