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OBJECTIVE@#To report on two children with Kabuki syndrome due to variants of the KMT2D gene and summarize their clinical and genetic characteristics.@*METHODS@#Two children who had presented at the Ningbo Women and Children's Hospital respectively on August 19 and November 10, 2021 were selected as the study subjects. Clinical data were collected. Both children were subjected to whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing.@*RESULTS@#Both children had featured motor and language developmental delay, facial dysmorphism and mental retardation. Genetic testing revealed that both had harbored de novo heterozygous variants of the KMT2D gene, namely c.10205del (p.Leu3402Argfs*3) and c.5104C>T (p.Arg1702*), both of which were rated as pathogenic variants based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The c.10205del (p.Leu3402Argfs*3) and c.5104C>T (p.Arg1702*) variants of the KMT2D gene probably underlay the pathogenesis in these two children. Above finding has not only provided a basis for their diagnosis and genetic counseling, but also enriched the spectrum of KMT2D gene variants.
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Child , Female , Humans , Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Genetic Counseling , Genetic Testing , MutationABSTRACT
The clinical data of patients with chlamydia psitsiti pneumonia confirmed by metagenomic next-generation sequencing (mNGS) who were admitted to the Huizhou Municipal Central Hospital from January 2020 to November 2021 were retrospectively analyzed. Among 21 patients, the serum creatine kinase (CK) was elevated in 10 cases, and 5 cases was complicated with rhabdomyolysis (RM). The symptoms of patients with Chlamydia psittaci pneumonia-induced RM were severe, including high fever, dyspnoea, headache and myalgia; 2 case were complicated by acute kidney injury (AKI) and neurological symptoms. Laboratory testing showed a marked increase in CK, myoglobin (Mb), high sensitivity C-reactive protein (hs-CRP), interleukin-6 (IL-6) and D-dimer levels in all 5 patients. The chest CT revealed large areas of pulmonary consolidation, ground-glass opacity in 1 case and a small amount of pleural effusion in 2 cases. One patient died from multiple organ failure, and the other 4 patients were discharged with considerable improvement. Patients with psittacosis pneumonia are prone to developing rhabdomyolysis, early detection and early treatment can effectively improve the prognosis of patients.
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Objective:To explore the clinical characteristics and treatment strategies for Chlamydia psittaci pneumonia confirmed using metagenomic next-generation sequencing (mNGS). Methods:A total of 26 patients with Chlamydia psittaci pneumonia admitted to the Huizhou Municipal Central People′s Hospital and Huizhou First People′s Hospital from January 2020 to December 2021 were enrolled. The clinical data were collected, including basic information, clinical manifestations, laboratory examinations, chest computed tomography (CT) findings, mNGS results, treatment outcomes and prognosis. Results:Twenty (76.9%) of the 26 cases with Chlamydia psittaci pneumonia had a definite bird or poultry contact history. The onset season was mostly in winter (57.7%, 15/26). All 26 cases had symptoms of high fever, chill, fatigue, anorexia and cough, 21 cases (80.8%) had dyspnea, 19 cases (73.1%) had relative infrequent pulse, 12 cases (46.2%) had headache, myalgia, and seven cases (26.9%) had disturbance of consciousness. Among the 26 cases, the white blood cell count was normal in 17 cases (65.4%), and the lymphocyte count was decreased in 21 cases (80.8%). All 26 cases had increased hypersensitive C-reactive protein and procalcitonin. D-dimer was elevated in 24 cases (92.3%), aspartate aminotransferase was elevated in 18 cases (69.2%), and alanine aminotransferase was elevated in 15 cases (57.7%). Chest CT mainly showed lung consolidation, and 20 cases (76.9%) had multiple lobes of the lungs involved, 18 cases (69.2%) had the lower lobe of the lung as the main lesion. Among the results of mNGS of 26 cases, nine cases (34.6%) had only Chlamydia psittaci detected, and 17 cases (65.4%) had other pathogenic microorganisms detected. After targeted anti-infection treatment, two cases died of multiple organ failure and the remaining 24 patients recovered. Conclusions:The common manifestations of Chlamydia psittaci pneumonia are high fever, dyspnea, relative bradycardia, normal white blood cell count, and lung consolidation. mNGS is helpful for early diagnosis of disease, and appropriate treatment can improve the prognosis.
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Objective:To analyze the clinical characteristics of Chlamydia psittaci pneumonia and to investigate the correlation between serum inflammatory biomarkers and severity of the disease. Methods:Sixteen patients with Chlamydia psittaci pneumonia admitted to the Huizhou Municipal Central Hospital from January 2020 to July 2021 were selected as the study subjects, including 10 severe cases and 6 mild cases. Clinical data were collected and analyzed, such as baseline characteristics, clinical symptoms, laboratory inspection and chest imaging manifestations. Results:① Thirteen Chlamydia psittaci pneumonia were associated with a definite bird or poultry contact history. Common symptoms included high fever, chill, cough, fatigue, and anorexia (16 cases), dyspnoea (12 cases), and other systemic symptoms. ② Laboratory test results showed normal white blood cell count (WBC, 10 cases), decreased lymphocyte count (LYM, 13 cases), increased high sensitive C-reactive protein (hs-CRP, 16 cases), D-dimer (15 cases), lactate dehydrogenase (LDH, 13 cases), aspartate aminotransferase (AST, 16 cases) and alanine aminotransferase (ALT, 12 cases) levels, however, the albumin (Alb, 15 cases) lever was decreased. The numbers of CD3 + T cells and CD4 + T cells decreased in 10 patients. ③ The levels of D-dimer, interleukins (IL-2, IL-6, IL-10) in severe Chlamydia psittaci pneumonia were significantly higher than those in mild Chlamydia psittaci pneumonia [D-dimer (μg/L): 10 257±4 203 vs. 1 085±642, IL-2 (ng/L): 1.1 (0.8, 1.7) vs. 0.3 (0.1, 0.7), IL-6 (ng/L): 315 (182, 505) vs. 75 (18, 131), IL-10 (ng/L): 7.0±4.1 vs. 2.3±0.7], but the LYM was lower (×10 9/L: 0.4±0.1 vs. 1.1±0.4), with significant differences (all P < 0.05). ④ Chest imaging manifestations were exudative lesions and large consolidation of lungs. Large consolidation of both lungs can occur in some critically ill patients. Conclusions:Chlamydia psittaci pneumonia is mainly associated with a bird or poultry contact history. The clinical manifestations usually present high fever, dyspnea, normal or slightly increased leucocytes, and lung consolidation. The levels of LYM, D-dimer, IL-2, IL-6 and IL-10 in serum are expected to predict the severity of the Chlamydia psittaci pneumonia.
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Objective To study the early protective effect of NADPH on human umbilical vein endothelial cells (HUVECs) and the expression of occludin and MMP9 induced by oxygen glucose deprivation and reoxygenation (OGD/R). Methods HUVECs were cultured and divided into blank control group, OGD/R group and OGD/R+NADPH 20 μmol/L group. The proliferation of HUVECs after treatment was detected by CCK-8 assay. The cytotoxicity was detected by LDH release assay. The morphological changes of HUVECs were observed by inverted microscope. Superoxide dismutase (SOD MDA) activity and malondialdehyde (MDA) were detected by commercially available kit. The expressions of occludin and MMP9 were detected by Western blot assay. Results Compared with the OGD/R, NADPH enhanced the cell viability significantly (P<0.05), reduced the release of LDH (P<0.05), promoted the maintance of HUVECs morphology, reduced MDA generation (P<0.05) and increased SOD activity (P<0.05). Following OGD/R,the treatment of NADPH can inhibit MMP9 level (P<0.05) and promote the recovery of occludin level (P<0.05). Conclusion NADPH can protect HUVECs from the damage induced by OGD/R by reducing oxidative stress and regulating the expressions of MMP9 and occludin.
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BACKGROUND:Femoral neck fracture is mainly fixed by three inverted triangle cannulated screws. Scholars have proposed to add a cannulated screw to enhance the fixation strength of femoral neck fracture of Pauwels III type based on three cannulated screw fixation, but the stability is not verified. OBJECTIVE:To analyze the biomechanical stability and stress of the three and four cannulated screws for the treatment of the Pauwels III femoral neck fractures. METHODS:The CT imaging results of the fourth generation of artificial bone sawbones were imported into the Mimics software wherein a three-dimensional finite element model of the proximal femur was prepared and introduced in the 3-matic software. Models of middlesegment of femoral neck with Pauwels III fractures were established. Cannulated screw models were established with UG 8.0 software and introduced in the fractures models. Finally, finite element models of Pauwels III femoral neck fractures fixed with three and four screws were established. In the same condition, an axial load of 411 N was applied on the femoral head with Abaqus software. The displacement of two markers of the broken ends and internal fixation system Von Mises stress distribution were compared between the two models. RESULTS AND CONCLUSION:(1) The displacement was 0.42 mm in three screws model, and 0.17 mm in the four screws model. (2) Von Mises stress peak was 547 MPa and 27.8 MPa in both models. The peak value was lower in models of fourscrews than that of three screws. Stress concentration position was at the fracture site in both models. The stress range of models of four screws was more extensive and scattered. (3) Finite element analysis results demonstrated that four-screw implantation for Pauwels III femoral neck fractures had strong anti-shearing force and biomechanical stability. Clinical advantages need further clinical comparative study.
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ObjectiveTo study the role of chemokines and their receptors in peripheral blood in the pathogenesis of breast cancer in elderly patients.MethodsSerum levels of regulated on activation normal T-cell expressed and secreted(RANTES),macrophage inflammatory protein-3 α (MIP-3α ) and stromal cell derived factor-1(SDF-1) were determined by double-antibody sandwich enzyme-linked immunosorbent assay(ELISA) in 30 elderly patients with breast cancer(breast cancer group) and 30 normal controls (control group).Meanwhile,chemokine receptors,CC chemokine receptor(CCR)5,CCR6 and CXC chemokine receptor(CXCR) 4 on peripheral blood CD3+ T-cell in two groups were analyzed by flow cytometry.ResultsSerum levels of RANTES,MIP-3 α and SDF-1 in breast cancer group were significantly higher than those in control group [ (27.9 ± 16.6) μ g/L vs.( 12.6 ± 4.2) μ g/L,( 10.9 ± 7.1 ) μ g/L vs.(5.4 ± 3.5 )μg/L,(339.4 ±94.6) ng/L vs. (195.0 ±70.8) ng/L,P ＜0.01].There was no significant difference in expressions of CCR5,CCR6 and CXCR4 on peripheral blood CD3+ T-cell between two groups(P ＞ 0.05).ConclusionThe abnormal increase of serum levels of RANTES,MIP-3 α and SDF-1 in peripheral blood may play role in the carcinogenesis and progress of breast cancer in elderly patients.
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Objective This paper aims to find a best position of ephedrine hydrochloride nasal drops by comparing earache occurred in hyperbaric oxygen(HBO )therapy while using ephedrine hydrochloride nasal drops in two positions: laying in lateral position of 45°with head leaning back; laying down flat, so as to supply reference for prevention of earache. Methods We selected 300 cases of HBO patients who were firstly treated by HBO and randomly divided into the observation group and the control group with 150 cases in each group. All these patients were treated by large medical hyperbaric oxygen tank. On the first to third day, ephedrine hydrochloride nasal drops were put into the patients before they were sent into the oxygen tank. Patients in the observation group lay in lateral position of 45°with their head leaning back, and those in the control group were in horizontal position. We put three drops of 1% of ephedrine hydrochloride nasal drops respectively into their nasal cavity. When they came out of the oxygen tank, we asked them if they felt earache and checked their tympanic membrane so as to make a comparison. Results It was found that earache, rate of tympanic membrane injury and the extent of such injury in the observation group was obviously less than that in the control group, there was difference in statistics between these two groups. Conclusions Before HBO treatment, ephedrine hydrochloride nasal drops that put in lateral position of 45°with patients head leaning back can reduce the possibilities of earache occurred in HBO. It was also observed that such position was an ideal one which had anatomical characteristics of Eustachian tube and was safer than laying down flat, so such position is more practical.
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Objective To compare the effectiveness of hyperbaric oxygen (HBO) therapy and normal pressure oxygen inhalation for lung infection in patients with severe brain injury and tracheotomy.Methods Sixty lung infection patients with severe brain injury and tracheotomy were stratified by age and Glasgow coma scale (GCS) score into an HBO group (30) and a conventional therapy group (30).Both groups were given treatments to reduce intracranial hypertension and protect the brain,surgery,antibiotics,and symptomatic and support therapy.In the conventional group the patients received oxygen therapy at normal oxygen pressure by tracheal cannula.In the HBO group,the patients received HBO therapy through self-made oxygen devices by the authors.The body temperature,cough and expectoration,respiratory sounds and white blood cell (WBC) count were compared between the groups.Results There were statistically significant differences in body temperature,cough and expectoration,respiratory sounds and the normalized time for the count and classification of WBC between the groups.Conclusion HBO had good treatment effectiveness for excretion and expectorant in lung infection patients with severe brain injury and tracheotomy.
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OBJECTIVE@#To explore the effective method to treat the glottic carcinoma invading the anterior commissure, we observed the difference of three kinds of operation to the anterior commissure of dogs by semiconductor laser.@*METHOD@#Twelve dogs were divided into 3 groups at random, A: to cauterize to the thyroid cartilage's inner membrane of the anterior commissure, the right ventricular bands and vocal cord, the anterior and 1/3 of the left vocal cord; B: to cauterize part of the thyroid cartilage of the anterior commissure besides A; C: to open a window about 5 mm x 5 mm on the thyroid cartilage of the anterior commissure besides B. To take photos to observe the dogs' laryngeal wound with digital camera or electrolaryngoscope immediately, 1 week and 4 weeks, then to record the hoarseness, body weight and complications etc.@*RESULT@#All the dogs' laser surgery were completed successfully. To observe the gross specimen, it was identical between the extent of excising and the design preoperation. One week later, the neonatal membrane covered the wound incomplete. Edematization, inflammatory reaction, pseudomembrane and the hoarseness were not heavy too. No obvious complication in group A. The neonatal membrane covered the wound incomplete. Edema, inflammatory reaction, pseudomembrane and granulation can be seen in group B. Exudation was heavy in local, erosion and infected, the hoarseness was severe. No other obvious complications in C. Different extent of adhesion could be seen at the anterior commissure in group A, B and C after 4 weeks, the laryngeal web formed, and the length of vocal cord was shorter than before. The color and luster of anterior commissure membrane was normal basically, the inflammatory reaction was not heavy in A and B groups. The anterior commissural membrane appeared the dark red chronic inflammatory reaction; the window was closed by neonatal membrane completely and had no infection in group C. To observe the gross specimen: the wound of anterior commissure was covered by prosthetic epithelia completely in three groups. The window was closed by complete membrane at the anterior commissure. The No. 1- 3 dog's conditions of hoarseness in three groups after 4 weeks: slight in A group, little severe in B and C group. The change of weight was not obvious at the pre or postoperative in group A and B. No obvious complication happened in each group postoperation.@*CONCLUSION@#The three operative methods have satisfied effects,the recovery of wound can cure well finally and no severe complications happened. It is valuable in clinic.
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Animals , Dogs , Arytenoid Cartilage , General Surgery , Larynx , General Surgery , Laser Therapy , Methods , Lasers, Semiconductor , Thyroid Cartilage , General Surgery , Vocal Cords , General SurgeryABSTRACT
Objective To investigate the expression of membrane CD14 (mCD14), Toll-like receptor (TLR4) and nuclear factor-kappa B (NF-kB) in peripheral blood ieukocytes from patients with psoriasis vulgaris (PV). Methods Blood samples were obtained from 29 normal controls and 32 patients with PV. Patient cohort consisted of 19 males and 13 females, with an average age of 30.28 ±13.11 years, disease duration of 8.21±10.21 years, and PASI score of 21.19±5.85. Flow cytometry was used to measure the expression of mCD14, TLR4 and activated NF-kB in peripheral blood leukocytes in these subjects. Results The expressions of mCD14 and TLR4 in peripheral blood leukocytes were significantly higher in patients than in the normal controls (5.454±2.78 vs 3.937±1.964, P < 0.05; 17.641±18.120 vs 7.527±8.574, P <0.01 ). Although the expression of activated NF-kB in total blood leukocytes in patients was higher than that in normal controls, no statistical difference was noticed (63.538±8.650 vs 62.236±6.72, P > 0.05). Conclusion There is an abnormal expression of mCD14 and TLR4 in patients with PV, suggesting that the abnormal activation of endotoxin signal transduction pathway may exert a role in the induction of psoriasis.
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OBJECTIVE: Increasing of adhesion between leukemia cells and endothelial cells during all-trans retinoic acid (ATRA) treatment plays an important role in retinoic acid syndrome. This work observed the effects of tripterine on this ATRA-caused increasing in adhesion. METHODS: The effects of tripterine on ATRA-induced expressions of adhesive molecules in acute promyelocytic leukemia cell line NB4 and human umbilical vascular endothelial cells (HUVEC) were detected by flow cytometry. The effects of tripterine on adhesion between ATRA-treated NB4 and HUVEC were determined by adhesive assays. RESULTS: ATRA caused remarkable elevation of intercellular adhesion molecule-1 (ICAM-1) in NB4 cells, which could be significantly reduced by tripterine (P<0.01). The expressions of E-selectin, vascular cell adhesion molecule-1 (VCAM-1) and ICAM-1 in HUVEC were elevated by conditioned medium from ATRA-induced NB4 (ATRA-NB4-CM) (P<0.01), and inhibited by tripterine with inhibition rates being 25.3%, 42.4% and 61.0% respectively. ATRA increased the adhesion between NB4 and HUVEC, which was reversed completely by tripterine. CONCLUSION: Tripterine can inhibit ATRA-caused adhesion between leukemia cells and endothelial cells, and it might be a potential agent for treating retinoic acid syndrome.
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Objective To explore the change of serum vascular endothelial growth factor(VEGF)、nitric oxide(NO)levers in patients with Kawasaki disease(KD) and their Clinical significance.Methods Serum VEGF and NO were detected by the double antibody sandwich ELISA and the method of nitratase respectively in 38 patients with KD at their acute and remission stages,and compared with anther 30 normal children.Results The lever of serum VEGF、 NO at the acute stage in KD group were significantly higher than those at the remission stage and the normal control group(P
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BACKGROUND: Bone marrow mesenchymal stem cells (BMMSCs) can be induced differentiating into osteoblasts and chondroblasts, DNA methylate depressant 5-azacytidine can induce BMMSCs expressing myogenic regulating factors: Myf5 and myopoietin, which involving in the differentiation of BMMSCs into myoblasts.OBJECTIVE: Muscular traumatic fluid containing the highest protein content was screened out and co-cultured with BMMSCs,in order to explore the inductive effect on the proliferation and myogeneis of BMMSCs.DESIGN : Standardized comparative study.SETTING .:At State Key Laboratory of Trauma, Bums and Combined Injury,Institute of Combined Injury, Medical College of Preventive Medicine, Third Military Medical University of Chinese PLA.MATERIALS: Muscular traumatic model was established on 18 Balb/C pure rats for the extraction of muscular traumatic fluid, the inductive effect of the fluid on BMMSC was then compared with 5-azacytidine.METHODS:This study was carried out at State Key Laboratory of Trauma,Burns and Combined Injury, Institute of Combined Injury, College of Preventive Medicine, Third Military Medical University of Chinese PLA from April 2001 and September 2003. Bradford colorimetric was used to detect the protein content in the muscular traumatic fluid, and the fluid with the highest protein was used to co-culture with BMMSC, whose effect on the proliferation of BMMSC was measured with MTT methods at day 0, 3, 6, 9, 12, 15.RT-PCR technique was used to detect the expression of myopoietin at day 6,with its myogenic effect compared with that of 5-azacytidine.fluid on BMMSC.eration of BMMSC: the proloferative activity of BMMSC in traumatic fluid genic effect of traumatic fluid on BMMSC: myopoietin could not be found expressed in traumatic fluid group, but strongly expressed in 5-azacytidine group.CONCLUSION: Muscular traumatic fluid can promote the proliferation of BMMSC, but has no myogenic effect.
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Objective To investigate the expression of IFN-? and IL-18 in patients with progressive psoriasis and its clinical significance. Methods Twenty cases of psoriasis vulgaris, 19 cases of erythroder-mic psoriasis and 10 oases of pustular psoriasis were studied. Sandwich ELISA was used to detect the plasma level of IFN-? and IL-18, or supernatant level of IFN-? and IL-18 in PBMC culture under the stimula-tion of staphylococcal enterotoxin B (SEB). Results The plasma level of IFN-? in patients with psoriasis vulgaris, erythrodermic psoriasis and pustular psoriasis was higher than that in healthy control. The plasma level of IL-18 in progressive psoriasis vulgaris was higher than that in healthy control. The supernatant level of IFN-? and IL-18 in PBMC culture in progressive psoriasis vulgaris were higher than that in normal control, with a positive correlation between IFN-? level and IL-18 level (r = 0.55, P
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In order to study the status of cell apoptosis in psoriatic epidermis, we have investigated the changes of the lesions in various stages in patients with psoriasis vulgaris by using terminal deoxynueleotidyl transferase-mediation dUTP-biotin nick end labelling (TUNEL). The results showed that the highest frequency of apoptotic keratinocytes was observed in the early scaling papular lesions, and the frequency was reduced in the progressive maculo-papular lesions and the coalescent plaques successively. The frequency of hyperproliferation of epidermis was in the reverse order in comparison with the above results. These results suggest that increased apoptosis of keratinocytes is the initial change of psoriatic epidermis, then hyperproliferation of keratinoeytes follows.
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Defecography was performed in 110 patients without any anorectal symptoms which included 57 male and 53 female with an average age of 43. 15. Normal defecography was found in 82 cases and abnormal one in 28. The normal features of defecography in 82 patients were as follows;1.There was an increase of anorectal angle during defecation. The increase was 21. 27 degrees measured-with precise axis method and 36. 72 degrees with approximate axis method.2. Reduction or obliteration of the impression of the puborectal muscle.3. There was a shortening of the anal canal by 1. 20 cm and a widening of the caliber of the anal canal to an average of 2. 23 cm.4. The resistance of the pelvic floor was good and the decending of the perineum was smaller than 3 cm during straining. The rectovaginal septum of female subjects was not deformed during straining.5. The barium paste in the distal rectum was largely or totally evacuated with an average e-vacuation rate of 90. 55%.