Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 103
Filter
1.
Indian Pediatr ; 2023 May; 60(5): 397-403
Article | IMSEAR | ID: sea-225422

ABSTRACT

Background: Ingested foreign materials are a common cause for hospital emergency department visit. Foreign objects such as magnets found in the gastrointestinal tract can cause serious problem because magnets attract to each other across the intestinal wall, often resulting in severe damage. We aimed to review the magnitude of the problem, the clinical characteristics and the interventions related to this problem. Methods: A systematic review and meta-analysis of the retrospective studies published in PUBMED, MEDLINE, Web of Science, Embase and Cochrane was conducted. The search was limited to studies published from Jan 1, 2000 to July 31, 2022, with the last search done on August 1, 2022. No publication restrictions or study design filters were applied. Results: Data from 24 retrospective cohort studies with 2014 patients were included in the review. 63.6% (95% CI 59.9%-67.3%) of children who had swallowed foreign bodies were male, and 43% (95% CI 29.3%-57.3%) children presented with non-specific symptoms or had a complete absence of symptoms. Only 74.7% (95% CI 58.7%-88%) of the children has clear history of ingested foreign bodies. Abdominal surgery was the most prevalent interventions (43.3%, 95%CI 32.5%-54.1%) among the inpatients, while conservative treatments were the second common intervention (40.3%, 95%CI 27.8%–52.9%) among the inpatients and outpatients. Intestinal perforation or fistula occurred in 30.2% (95%CI 22.5%–37.8%) children. Conclusions: Despite significant heterogeneity among primary studies, our results detail the morbidity, clinical characteristics and interventions associated with ingested magnetic foreign bodies in children.

2.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 238-242, 2022.
Article in Chinese | WPRIM | ID: wpr-933972

ABSTRACT

Objective:To observe the curative effect of exercise training combined with posture control among patients with displacement of the anterior disc of the temporomandibular joint (TMJ) without reduction.Methods:Forty-four patients with anterior TMJ disc displacement without reduction who had successfully been treated with manual repositioning were randomly divided into a control group and a treatment group, each of 22. Both groups underwent routine exercise training, while the experimental group was additionally provided with posture training five times a week for 4 weeks. After the 4th week of training both groups were evaluated using a visual analogue scale (VAS) and their maximum active mouth opening was compared. Six months later, MRI was performed to observe the disc-condyle relationship of the temporomandibular joint and its position.Results:①After 4 weeks of training, the average VAS scores of both groups were significantly lower than those before the training. The improvement in the treatment group′s average was significantly greater than among the control group. ②After the 4 weeks of training the average maximum active mouth opening of both groups had increased, with the improvement in the treatment group significantly greater. ③Six months later, 19 persons in the treatment group had a normal disc-condyle relationship, significantly more than the 13 in the control group.Conclusions:Posture control training can improve the effectiveness of sports training in maintaining manual repositioning of the TMJ after anterior disc displacement without reduction.

3.
Chinese Journal of Cardiology ; (12): 549-555, 2022.
Article in Chinese | WPRIM | ID: wpr-940887

ABSTRACT

Objective: To investigate the acute and long-term outcome of catheter ablation for the treatment of ventricular tachycardia (VT) in patients with arrhythmogenic left ventricular cardiomyopathy (ALVC). Methods: This retrospective, cross-sectional study enrolled ALVC patients undergoing radiofrequency ablation for the treatment of VT at the First Affiliated Hospital of Nanjing Medical University from January 2011 to December 2018 and collected their clinical characteristics and intraoperative electrophysiological examination. Patients were followed up every 6 months after radiofrequency ablation until August 2021. Echocardiographic results and VT recurrence post radiofrequency ablation were analysed. Results: Totally 12 patients were enrolled (mean age: (42±15) years, 11 males(11/12)). The mean of left ventricular end diastolic diameter (LVDd) and left ventricular ejection fraction (LVEF) were (51±5)mm and (65±5)%, respectively. Twelve VTs were induced in 10 patients during the electrophysiological study, and the mean tachycardia cycle length was (293±65) ms. Three-dimensional substrate mapping revealed the diseased area at endocardial site in one patient, at epicardial sites in the other 11 patients (involved endocardial sites in 2 cases) with the basal part near the mitral annulus being the predilection for the substrate (10/11). After the catheter ablation at the endocardial and epicardial sites respectively, the complete procedure endpoint was achieved in all patients (VT cannot be induced post ablation). The median follow-up time was 65 (25, 123) months. One patient was lost to follow-up, and the other 11 patients survived without VT. No significant cardiac function deterioration was detected by the echocardiographic examination ((51±5)mm vs. (52±5)mm, P>0.05 for LVDd, (65±5)% vs. (60±6)%, P>0.05 for LVEF) at the end of follow-up. Conclusion: After radiofrequency ablation, the complete procedure endpoint is achieved in ALVC patients, and the catheter ablation provides long-term ventricular tachycardia control during the long-term follow-up.


Subject(s)
Adult , Humans , Male , Middle Aged , Cardiomyopathies , Catheter Ablation , Cross-Sectional Studies , Follow-Up Studies , Pericardium/surgery , Recurrence , Retrospective Studies , Stroke Volume , Tachycardia, Ventricular/surgery , Treatment Outcome , Ventricular Function, Left
4.
Chinese Journal of Traumatology ; (6): 100-103, 2021.
Article in English | WPRIM | ID: wpr-879678

ABSTRACT

PURPOSE@#Hemodynamically unstable patients with pelvic fractures still represent a challenge to trauma surgeons and have a very high mortality. This study was designed to explore the effect of the interventions of direct preperitoneal pelvic packing for the hemodynamically unstable pelvic fractures.@*METHODS@#This retrospective study enrolled 67 cases of severe pelvic fractures with unstable hemodynamics from October 2011 to December 2019. All patients presented in our emergency center and received preperitoneal pelvic packing were included in this study. The indication was persistent systolic blood pressure ≤90 mmHg during initial resuscitation and after transfusion of two units of red blood cells. Patients with hemodynamic stability who need no preperitoneal pelvic packing to control bleeding were excluded. Their demographic characteristics, clinical features, laboratory results, therapeutic interventions, adverse events, and prognostic outcomes were collected from digital information system of electronic medical records. Statistics were described as mean ± standard deviation or medium and analyzed using pair sample t-test or Mann-Whitney U-test.@*RESULTS@#The patients' average age was 41.6 years, ranging from 10 to 88 years. Among them, 45 cases were male (67.2%) and 22 cases were female (32.8%). Significant difference was found regarding the systolic blood pressure (mmHg) in the emergency department (78.4 ± 13.9) and after preperitoneal pelvic packing in the surgery intensive care unit (100.1 ± 17.6) (p < 0.05). Simultaneously, the arterial base deficit (mmol/L) were significantly lower in the surgery intensive care unit (median -6, interquartile range -8 to -2) than in the emergency department (median -10, interquartile range -14 to -8) (p < 0.05). After preperitoneal pelvic packing, 15 patients (22.4%) underwent pelvic angiography for persistent hypotension or suspected ongoing haemorrhage. The overall mortality rate was 29.5% (20 of 67).@*CONCLUSIONS@#Preperitoneal pelvic packing, as a useful surgical technique, is less invasive and can be very efficient in early intra-pelvic bleed control.

5.
Chinese Journal of Practical Nursing ; (36): 92-99, 2020.
Article in Chinese | WPRIM | ID: wpr-799658

ABSTRACT

Objective@#To conduct the integrated management of hospital, community and family for patients with insulin injection at home, in order to explore the influence of this trinity health education model on the knowledge of medical waste and the standard disposal of discarded needles.@*Methods@#The self-designed questionnaire was used to investigate the knowledge and disposal of medical waste in outpatients, and the causes were analyzed carefully after the problems were found. The hospital, community and family were timely communicated and fed back to the ward and community. After 1, 3 and 6 months of educational intervention, the disposal of insulin needles, the knowledge of medical waste and the recovery of sharp instrument boxes were observed.@*Results@#After 1, 3 and 6 months of health education, the final rate of insulin needles mixed into domestic waste was 51.8% (144/278), 15.1% (42/278) and 4.7% (13/278), respectively. Compared with the first result of 99.6% (277/278), the difference was statistically significant (χ2=173.046, 406.136, 502.346, P<0.01); The first survey found that the correct rate of responding to medical waste knowledge items was low. After health education for 1, 3 and 6 months, the correct rate of medical waste related knowledge items was significantly higher than that of the first survey, and the difference was statistically significant (OR=3.016-3 548.810; 95%CI 2.108-917.869, 4.315-19 777.062; χ2=25.180-524.895; P<0.01) ; After 1, 3 and 6 months of health education, the qualified rate of medical waste knowledge was 82.4% (229/278),75.9% (211/278) and 97.1% (270/278), respectively, which was significantly higher than the first result of 6.5% (18/278). The difference was statistically significant (χ2=324.328, 273.712, 453.832, P<0.01). The sharp box recovery of hepatitis B patients was relatively good.@*Conclusion@#Hospital-community-family Trinity health education model can improve the breadth and depth of education objects, not only can improve the knowledge of medical waste related to insulin injection patients at home, but also can improve the standardized disposal ability of insulin waste needles. With the passage of time, the effect of health education continues to be good. This integrated health education model is worth popularizing in clinic.

6.
Chinese Journal of Practical Nursing ; (36): 92-99, 2020.
Article in Chinese | WPRIM | ID: wpr-864358

ABSTRACT

Objective:To conduct the integrated management of hospital, community and family for patients with insulin injection at home, in order to explore the influence of this trinity health education model on the knowledge of medical waste and the standard disposal of discarded needles.Methods:The self-designed questionnaire was used to investigate the knowledge and disposal of medical waste in outpatients, and the causes were analyzed carefully after the problems were found. The hospital, community and family were timely communicated and fed back to the ward and community. After 1, 3 and 6 months of educational intervention, the disposal of insulin needles, the knowledge of medical waste and the recovery of sharp instrument boxes were observed.Results:After 1, 3 and 6 months of health education, the final rate of insulin needles mixed into domestic waste was 51.8% (144/278), 15.1% (42/278) and 4.7% (13/278), respectively. Compared with the first result of 99.6% (277/278), the difference was statistically significant ( χ2=173.046, 406.136, 502.346, P<0.01); The first survey found that the correct rate of responding to medical waste knowledge items was low. After health education for 1, 3 and 6 months, the correct rate of medical waste related knowledge items was significantly higher than that of the first survey, and the difference was statistically significant ( OR=3.016-3 548.810; 95% CI 2.108-917.869, 4.315-19 777.062; χ2=25.180-524.895; P<0.01) ; After 1, 3 and 6 months of health education, the qualified rate of medical waste knowledge was 82.4% (229/278),75.9% (211/278) and 97.1% (270/278), respectively, which was significantly higher than the first result of 6.5% (18/278). The difference was statistically significant ( χ2=324.328, 273.712, 453.832, P<0.01). The sharp box recovery of hepatitis B patients was relatively good. Conclusion:Hospital-community-family Trinity health education model can improve the breadth and depth of education objects, not only can improve the knowledge of medical waste related to insulin injection patients at home, but also can improve the standardized disposal ability of insulin waste needles. With the passage of time, the effect of health education continues to be good. This integrated health education model is worth popularizing in clinic.

7.
Journal of Forensic Medicine ; (6): 192-198, 2020.
Article in English | WPRIM | ID: wpr-985104

ABSTRACT

Objective To explore the application value of interleukin-33 (IL-33) in wound age estimation in forensic practice by observing the sequential changes of IL-33 after skin wound. Methods Skin wound models were generated on the back of mice with a round file of 5 mm in diameter. Skin samples of the same size were taken from the same parts of mice in control group and injury group 1 h, 3 h, 6 h, 12 h, 1 d, 3 d, 5 d, 7 d and 10 d after skin wound. Hematoxylin-eosin (HE) staining method was applied to observe the morphological changes in the recovering process after skin wound. Western blotting, immunohistochemistry staining and double immunofluorescence staining methods were applied to detect the expression changes of IL-33 in the skin wound samples. Results The results of Western blotting showed that the expression of IL-33 protein decreased slightly at 3 h after skin wound, increased gradually at 6 h after skin wound, and reached the peak value at 3 d, then decreased gradually. Immunohistochemistry staining results showed that faint positive expression of IL-33 was observed in epidermis, hair follicles, sebaceous glands and dermal resident cells of the control group skin. The positive cell rate of IL-33 increased at 3 h after skin wound and reached the peak value at 3 d, then decreased gradually. The results of double immunofluorescence staining showed that the majority of IL-33 positive cells from 1 d to 3 d after wound were macrophages, while the majority of IL-33 positive cells from 5 d to 7 d after wound were myofibroblasts. In addition, the results of HE staining showed that the wound healing process of the skin wound model was consistent with the pathological development law of inflammation. Conclusion IL-33 could become a reference index for wound age estimation of skin wound in forensic practice.


Subject(s)
Animals , Mice , Interleukin-33 , Myofibroblasts , Skin , Soft Tissue Injuries , Wound Healing
8.
Journal of Forensic Medicine ; (6): 72-76, 2020.
Article in English | WPRIM | ID: wpr-985090

ABSTRACT

Objective To discuss the application value of CT scanning technology in cause of death determination of medical dispute cases. Methods From July 2017 to December 2018, postmortem CT imaging data of 12 medical dispute cases were collected. CT imaging diagnosis results and anatomy findings as well as differences between antemortem and postmortem CT diagnosis were compared. The advantages and disadvantages of CT routine tests of the cadavers in terms of the diagnosis of disease and damage were analyzed. Results The comparison between CT imaging diagnosis and anatomical findings showed that CT scans had advantages in the diagnosis of disease and damage with large differences in density changes, such as atelectasis, pneumonia, calcification, fracture and hemorrhage, etc. The comparison of CT diagnosis in antemortem and postmortem examination showed that the cadavers of medical dispute cases were well preserved and that postmortem CT scan was meaningful for the diagnosis of antemortem diseases. Conclusion Virtual anatomy technology has a relatively high application value in postmortem examination of medical dispute cases. It can provide effective information for the appraisers before the autopsy and can also provide a reference for cause of death analysis when the anatomy cannot be performed.


Subject(s)
Humans , Autopsy , Cadaver , Dissent and Disputes , Postmortem Changes , Tomography, X-Ray Computed
9.
Biomedical and Environmental Sciences ; (12): 345-356, 2019.
Article in English | WPRIM | ID: wpr-773408

ABSTRACT

OBJECTIVE@#To investigate the molecular mechanisms of the adverse effects of exposure to sulfamonomethoxin (SMM) in pregnancy on the neurobehavioral development of male offspring.@*METHODS@#Pregnant mice were randomly divided into four groups: control- (normal saline), low- [10 mg/(kg•day)], middle- [50 mg/(kg•day)], and high-dose [200 mg/(kg•day)] groups, which received SMM by gavage daily during gestational days 1-18. We measured the levels of short-chain fatty acids (SCFAs) in feces from dams and male pups. Furthermore, we analyzed the mRNA and protein levels of genes involved in the mammalian target of rapamycin (mTOR) pathway in the hippocampus of male pups by RT-PCR or Western blotting.@*RESULTS@#Fecal SCFA concentrations were significantly decreased in dams. Moreover, the production of individual fecal SCFAs was unbalanced, with a tendency for an increased level of total fecal SCFAs in male pups on postnatal day (PND) 22 and 56. Furthermore, the phosphatidylinositol 3-kinase (PI3k)/protein kinase B (AKT)/mTOR or mTOR/ribosomal protein S6 kinase 1 (S6K1)/4EBP1 signaling pathway was continuously upregulated until PND 56 in male offspring. In addition, the expression of Sepiapterin Reductase (SPR), a potential target of mTOR, was inhibited.@*CONCLUSION@#In utero exposure to SMM, persistent upregulation of the hippocampal mTOR pathway related to dysfunction of the gut (SCFA)-brain axis may contribute to cognitive deficits in male offspring.


Subject(s)
Animals , Female , Male , Pregnancy , Alcohol Oxidoreductases , Metabolism , Anti-Infective Agents , Toxicity , Fatty Acids, Volatile , Feces , Chemistry , Hippocampus , Metabolism , Memory , Mice, Inbred ICR , Prenatal Exposure Delayed Effects , Sulfamonomethoxine , Toxicity , TOR Serine-Threonine Kinases , Metabolism
10.
The Malaysian Journal of Pathology ; : 207-211, 2019.
Article in English | WPRIM | ID: wpr-750453

ABSTRACT

@#Introduction: Salivary gland intraductal carcinoma (IDC) is rare. We present the second case of IDC originating from an intraparotid lymph node (LN) with a more detailed description of the histogenesis, immunohistochemistry (IHC) and updated molecular information. Case Report: An 87-year-old male had a tumour nodule over the left parotid tail for about 20 years. Physical examinations revealed a 4.5 cm soft, non-tender and fixed mass. After the left parotidectomy, pathology confirmed the diagnosis of IDC arising within an intraparotid lymph node. The cystic component of the tumour was lined by single to multilayered ductal cells with micropapillary growth pattern. The solid part showed intraductal proliferation of neoplastic cells in solid, cribriform, micropapillary and Roman bridge-like structure. By immunohistochemistry (IHC), the tumour cells were positive for S-100, CK (AE1/AE3), mammaglobin, SOX10, and estrogen receptor (ER), with myoepithelial cell rimming highlighted by positive p63 and calponin IHC stains. The prognosis of this patient is excellent after complete excision. Discussion: The mechanism of salivary gland tumour arising in the intra-parotid gland LN was assumed to be related to salivary duct inclusion within the intraparotid gland LN which is a normal occurrence during embryology development. Although the terminology may raise some confusion about the relationship between IDC and conventional salivary duct carcinoma (SDA), they are different in immunophenotype and clinicopathologic features. IDC is characterised by S100 (+) ER (+) with predominant intraductal growth and excellent prognosis; while SDC features S100 (-) androgen receptor (+) with predominant invasive growth and aggressive behavior. Recent discovery of recurrent RET gene rearrangement in IDC but not SDC also supports that IDC is not precursor lesion of the SDC.


Subject(s)
Carcinoma, Intraductal, Noninfiltrating
11.
Journal of Forensic Medicine ; (6): 149-153, 2019.
Article in English | WPRIM | ID: wpr-984990

ABSTRACT

Objective To investigate the sequential changes of the number of neutrophils and myofibroblasts during diabetic wound healing, and discuss its application value in wound age estimation. Methods Diabetic DB mice and mice of the same age in the normal control group were selected, a wound healing model was established, wound samples were taken at different time points, while the number of neutrophils and myofibroblasts during diabetic wound healing were determined by immunohistochemical staining technique. Results The number of infiltrated neutrophils in the wounds of control and diabetic groups reached the peak respectively at 12 h and 5 d after injury. Compared with the control group, the number of neutrophils in the diabetic group decreased significantly from 6 h to 1 d after injury, but increased markedly from 5 d to 14 d. From 5 d to 10 d after injury, the average number of neutrophils at high magnification in wounds of the diabetic group was over 30, while that of neutrophils in wounds of the control group was less than 20. Myofibroblasts appeared in wounds from 3 d to 14 d after injury in the control group and from 5 d to 14 d after injury in the diabetic group. The difference in the number of myofibroblasts in wounds between control group and diabetic group from 3 to 7 d after injury had statistical significance. Conclusion In comparison with normal wound healing, the number of neutrophils and myofibroblasts during diabetic wound healing shows different sequential changes. The results of this study can provide reference for wound age estimation of patients with severe diabetes.


Subject(s)
Animals , Mice , Diabetes Mellitus, Experimental/pathology , Myofibroblasts , Neutrophils , Wound Healing/physiology
12.
Journal of Forensic Medicine ; (6): 143-148, 2019.
Article in English | WPRIM | ID: wpr-984989

ABSTRACT

Objective To study the time-dependent expression and distribution of acetylcholinesterase (AChE) during skin incised wound healing in mice, and discuss its effect in wound healing as well as the feasibility of using it as a reference index for wound age estimation. Methods A total of 45 C57BL/KsJ mice were randomly divided into one control group and eight incised groups. The skin incised wound model was established in the incised groups with samples of skin wounds taken at 6 h, 12 h, 1 d, 3 d, 5 d, 7 d, 10 d and 14 d post-injury respectively, while the uninjured skin tissue was extracted in the control group. Expression and distribution of AChE in skin samples were detected by immunohistochemistry, double immunofluorescence and Western blotting. Results Immunohistochemistry results indicated that AChE was mainly detected in infiltrating polymorphonuclear cells (PMNs) 6 to 12 h post-injury. A large number of AChE-positive mononuclear cells (MNCs) were observed 1 to 3 d post-injury. The AChE-positive cells were mainly fibroblastic cells (FBCs) 5 to 14 d post-injury. The ratio of the AChE-positive cells increased initially 6 h post-injury, and reached the peak at 1 d post-injury. Double immunofluorescent staining showed that the majority of AChE-positive MNCs and FBCs expressed macrophage marker and myofibroblast marker, respectively. Western blotting results showed that the relative expression level of AChE in the incised group was higher than that in the control group averagely, reached the peak at 1 d post-injury, then reached a second peak at 7 d post-injury. Conclusion The expression of AChE is found in PMNs, macrophages and myofibroblast during skin wound healing, which indicates it might be involved in the adjustment of inflammatory response and fibrotic repair after injury. Moreover, combined use of various methods for the detection of the expression of AChE would provide reference for skin wound age estimation.


Subject(s)
Animals , Mice , Acetylcholinesterase/metabolism , Mice, Inbred C57BL , Skin/pathology , Time Factors , Wound Healing/physiology
13.
Journal of Forensic Medicine ; (6): 5-10, 2019.
Article in English | WPRIM | ID: wpr-984972

ABSTRACT

OBJECTIVES@#To investigate the expression changes of annexin A1 (ANXA1) during the process of skin incision healing, and to explore its expression and function during skin injury repair.@*METHODS@#The skin injury model of mice was prepared, and skin tissues of the controls and the injured group at 6 h, 12 h, 1 d, 3 d, 5 d, 7 d, 10 d and 14 d after injuries were taken. The morphological changes of the wound were observed by hematoxylin-eosin (HE) staining, and the expression of ANXA1 was detected by immunohistochemistry (IHC) and Western blotting.@*RESULTS@#HE staining showed normal healing of skin wounds. IHC results revealed that ANXA1 was expressed in the epidermis, hair follicle, sebaceous gland and vascular endothelium. In the injured group, the expression of ANXA1 was enhanced in epidermis and skin appendages around the wound 6-12 h after injury, and ANXA1 was also highly expressed in neutrophils and a small number of mononuclear cells. ANXA1 was mainly positively expressed in monocytes, neovascular endothelial cells and fibroblasts, and small amount of fibroblasts at 1-3 d, 5-10 d, and 14 d after injury, respectively. Western blotting showed that, compared with the controls, the expression of ANXA1 was significantly increased at 6 h after injury, peaked at 1 d, and then decreased gradually in the injured group.@*CONCLUSIONS@#ANXA1 may be involved in the regulation of skin damage repair, with time-dependent expression during skin wound healing, and thus is expected to be a biological marker for inferring the wound formation time.


Subject(s)
Animals , Mice , Annexin A1/metabolism , Fibroblasts , Neutrophils , Skin , Wound Healing
14.
Journal of Forensic Medicine ; (6): 7-12, 2018.
Article in Chinese | WPRIM | ID: wpr-692378

ABSTRACT

Objective To investigate FoxO1 expression and its time-dependent changes during the skin incised wound healing. Methods After the establishment of the skin incised wound model in mice, the FoxO1 expression of skin in different time periods was detected by immunohistochemistry and Western blotting. Results Immunohistochemistry staining showed that FoxO1 was weakly expressed in a few fibroblasts of epidermis, hair follicles, sebaceous glands, vessel endothelium and dermis in the control group. The FoxO1 expression was enhanced in the epidermis and skin appendages around the wound during 6-12 h after injury, which could be detected in the infiltrating neutrophils and a small number of monocytes. FoxO1 was mainly expressed in monocytes during 1-3 d after injury, and in neovascular endothelial cells and fibroblasts during 5-10 d. On the 14th day after injury, the FoxO1 expression still could be detected in a few fibroblasts. The Western blotting results showed that the FoxO1 expression quantity of the tissue samples in injury group was higher than in control group. The FoxO1 expression peaked at 12 h and 7 d after injury. Conclusion FoxO1 is time-dependently expressed in skin wound healing, which can be a useful marker for wound age determination.

15.
Genet. mol. biol ; 40(3): 591-596, July-Sept. 2017. tab, graf
Article in English | LILACS | ID: biblio-892423

ABSTRACT

Abstract X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T), which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1) gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI) protein from glycine to valine (p. Gly237Val). Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.

16.
Acta cir. bras ; 32(6): 459-466, June 2017. tab, graf
Article in English | LILACS | ID: biblio-886207

ABSTRACT

Abstract Purpose: To investigate the effects of dexmedetomidine (DEX) on amino acid contents and the cerebral ultrastructure of rats with cerebral ischemia-reperfusion injury (I/R). Methods: Thirty-six, male, Wistar rats were randomly divided into three groups: the sham operation group (group C), the ischemia-reperfusion group (group I/R), and the DEX group (group D). The middle cerebral artery occlusion model was prepared by the modified Longa method. The time of ischemia was 180 min, and 120 min after reperfusion, the amount of glutamate (Glu), and γ-aminobutyric acid (GABA) in the brain were measured, and the ultrastructure-level changes in the cerebral cortex were examined using electron microscopy. Results: Compared to group C, Glu contents in group D, and I/R significantly increased. Compared to group I/R, Glu contents in group D significantly decreased. Compared to group C, GABA contents in group D, and I/R significantly increased, and those in group D significantly increased, as compared to group I/R. The cerebral ultrastructure was normal in group C. Vacuolar degeneration in the plastiosome and nervous processes, was more critical than in group D. Vascular endothelial cells (VEC) were damaged. On the contrary, these changes in group D significantly improved. Conclusion: Dexmedetomidine is capable of decreasing glutamergic content, and increasing GABAergic content, in order to decrease the injury of the cerebral ultrastructure, following cerebral ischemia-reperfusion injury.


Subject(s)
Animals , Male , Rats , Reperfusion Injury/metabolism , Cerebral Cortex/chemistry , Brain Ischemia/drug therapy , Neuroprotective Agents/pharmacology , Dexmedetomidine/pharmacology , Glutamine/metabolism , Cerebral Cortex/ultrastructure , Brain Ischemia/metabolism , Rats, Wistar , gamma-Aminobutyric Acid/drug effects , gamma-Aminobutyric Acid/metabolism , Amino Acids/drug effects , Amino Acids/metabolism
17.
National Journal of Andrology ; (12): 697-702, 2017.
Article in Chinese | WPRIM | ID: wpr-812893

ABSTRACT

Objective@#To investigate the expressions of interleukin-17 (IL-17) and interleukin-8 (IL-8) in benign prostatic hyperplasia (BPH) and BPH complicated with histological inflammation and their significance.@*METHODS@#According to the results of HE staining, we divided 60 cases of BPH treated by transurethral resection of the prostate (TURP) into a BPH group (n = 23) and a BPH with inflammation group (n = 37). We analyzed the clinical data of the patients and determined the mRNA and protein expressions of IL-17 and IL-8 by immunohistochemistry, real-time fluorescence quantitative PCR, and Western blot, respectively.@*RESULTS@#Compared with the BPH patients complicated with inflammation, the BPH group showed significantly lower International Prostate Symptom Score (IPSS) (29.1 ± 6.2 vs 21.6 ± 3.7), quality of life score (QoL) (5.4 ± 1.3 vs 4.4 ± 1.6), postvoid residual urine volume (RUV) ([198.6 ± 15.5] vs [98.2 ± 19.3] ml), prostate volume ([69.2 ± 24.1] vs [49.8 ± 16.5] ml), PSA level ([7.4 ± 1.9] vs [2.8 ± 0.8] μg/L) and serum c-reactive protein content (CRP) ([5.1±2.0] vs [1.5±0.6] mg/L), but a higher maximum urine flow rate (Qmax) ([4.7 ± 2.1] vs [8.2 ± 1.8] ml/s) (all P<0.05). The former group had a significantly higher incidence rate of urinary retention than the latter (32.4% [12/37] vs 8.69% [2/23]), mRNA expressions of IL-17 (0.303 ± 0.076 vs 0.042 ± 0.019) and IL-8 (0.536 ± 0.059 vs 0.108 ± 0.025), and protein expressions of IL-17 (0.88 ± 0.10 vs 0.34 ± 0.05) and IL-8 (1.07 ± 0.08 vs 0.43 ± 0.04) (all P<0.05).@*CONCLUSIONS@#The expressions of IL-17 and IL-8 are upregulated in the prostatic tissue of the BPH patients with inflammation, which may play a significant role in the development and progression of BPH.


Subject(s)
Humans , Male , Disease Progression , Inflammation , Metabolism , Interleukin-17 , Metabolism , Interleukin-8 , Metabolism , Organ Size , Prostate , Pathology , Prostatic Hyperplasia , Metabolism , Quality of Life , RNA, Messenger , Metabolism , Transurethral Resection of Prostate , Treatment Outcome , Urinary Retention , Diagnosis
18.
Military Medical Sciences ; (12): 850-855, 2017.
Article in Chinese | WPRIM | ID: wpr-694269

ABSTRACT

Objective To stimulate the expansion of natural killer cells (NK) in vivo, to achieve high expression of Flt-3 ligand ( FL) in the mouse liver by hydrodynamic injection technology , to obtain high purity of NK for cell therapy and then to purify the spleen lymphocytes by MicroBeads sorting ( MACS ) technique.Methods C57BL/6 mice were repeatedly treated with hydrodynamic injection of FL expression plasmid .Then, surface markers of splenic NK were analyzed by flow cytometry and purified by MACS technique .Results Compared with mice treated with one hydrodynamic injection, the spleen of mice treated with two hydrodynamic injections showed significant variation, with the absolute num-ber of lymphocytes increased (6.02 ±1.15) times, the proportion of NK subsets increased (2.07 ±0.39) times, and the absolute number of NK subsets increased (12.49 ±2.39) times.Cell surface marker detection confirmed that NK activity and surface markers did not change significantly .NK with a purity of about (83.81 ±0.92)% was obtained by the combination of two magnetic beads sorted with CD 5 ( Ly-1) MicroBeads Positive selection and EasySep TM Mouse NK Cell Isolation Kit negative selection .Conclusion NK can be expanded in the spleen of mice by hydrodynamic injection of FL plasmid without influence on the NK activity and surface markers.The combined use of CD5 (Ly-1) MicroBeads positive selection with EasySep TM Mouse NK Cell Isolation Kit negative selection can effectively remove T , B and other miscellaneous cells, thereby contributing to obtaining high-purity NK. This study provides good reference for the immunotherapy of tumor cells.

19.
Journal of Experimental Hematology ; (6): 171-175, 2017.
Article in Chinese | WPRIM | ID: wpr-311573

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effect of thrombocytopenia on the migration patterns of adoptive dendritic cell(DC) in vivo.</p><p><b>METHODS</b>The mouse model of thrombocytopenia was established by intraperitoneal administration of anti-CD41 mAb MWReg30. Mouse bone marrow(BM)-derived DC were injected into thrombocytopenia mouse by footpad infusion and intravenous infusion. The DC migration and distribution pattern were detected by bioluminescence imaging.</p><p><b>RESULTS</b>More than 80% platelets were cleared in the experimental group which was infused with anti-CD41 antibody. At 72 h after injection, the percentage of injected DC that migrated from footpad to popliteal lymph nodes(PLNs) and inguinal lymph nodes(ILNs) were (0.32±0.02)% and (0.02±0.01)% in experimental group, and (0.27±0.15)% and (0.02±0.02)% in control group, respectively. Statistic data showed that there was no statistical difference between these 2 groups (P>0.05). The issue distribution pattern of intravenously injected DC between experimental group and control group were not distinctly different, and large amounts of injected DC accumulated in the spleen, liver draining lymph-nodes lungs and liver.</p><p><b>CONCLUSION</b>Thrombocytopenia has not a distinct effect on the migratory capacity and tissue distribution of DC by either footpad or intravenous injection.</p>

20.
Biomedical and Environmental Sciences ; (12): 334-342, 2017.
Article in English | WPRIM | ID: wpr-311407

ABSTRACT

<p><b>OBJECTIVE</b>The effects of arsenic exposure from drinking water, arsenic metabolism, and arsenic methylation on blood pressure (BP) were observed in this study.</p><p><b>METHODS</b>The BP and arsenic species of 560 participants were determined. Logistic regression analysis was applied to estimate the odds ratios of BP associated with arsenic metabolites and arsenic methylation capability.</p><p><b>RESULTS</b>BP was positively associated with cumulative arsenic exposure (CAE). Subjects with abnormal diastolic blood pressure (DBP), systolic blood pressure (SBP), and pulse pressure (PP) usually had higher urinary iAs (inorganic arsenic), MMA (monomethylated arsenic), DMA (dimethylated arsenic), and TAs (total arsenic) than subjects with normal DBP, SBP, and PP. The iAs%, MMA%, and DMA% differed slightly between subjects with abnormal BP and those with normal BP. The PMI and SMI were slightly higher in subjects with abnormal PP than in those with normal PP.</p><p><b>CONCLUSION</b>Our findings suggest that higher CAE may elevate BP. Males may have a higher risk of abnormal DBP, whereas females have a higher risk of abnormal SBP and PP. Higher urinary iAs may increase the risk of abnormal BP. Lower PMI may elevate the BP. However, higher SMI may increase the DBP and SBP, and lower SMI may elevate the PP.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Arsenic , Metabolism , Toxicity , Blood Pressure , China , Drinking Water , Chemistry , Environmental Exposure , Methylation , Water Pollutants, Chemical , Toxicity
SELECTION OF CITATIONS
SEARCH DETAIL