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1.
Article in Chinese | WPRIM | ID: wpr-930535

ABSTRACT

A 3-year-old girl was hospitalized for cough and asthma for 2 days, and fever and anuria for 1 day in Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January 2019.Retrospective analysis was used.She developed end-stage renal disease and received peritoneal dialysis 6 months ago.After admission, she was diagnosed as acute-on-chronic renal failure, respiratory failure, heart failure, severe influenza A (H1N1). The patient was rapidly recovered by the management of high-volume peritoneal dialysis, mechanical ventilation, and medications of Peramivir and Methylprednisolone.Through literature review, case report or cohort study about the treatment of acute kidney disease by high-volume peritoneal dialysis has not been previously reported.This case report suggested that high-volume peritoneal dialysis is able to effectively remove solutes and control volume without causing severe hypoproteinemia and hyperglycemia, which may become an effective renal replacement therapy for children with multi-organ dysfunction syndrome.

2.
Article in Chinese | WPRIM | ID: wpr-939628

ABSTRACT

Speech expression is an important high-level cognitive behavior of human beings. The realization of this behavior is closely related to human brain activity. Both true speech expression and speech imagination can activate part of the same brain area. Therefore, speech imagery becomes a new paradigm of brain-computer interaction. Brain-computer interface (BCI) based on speech imagery has the advantages of spontaneous generation, no training, and friendliness to subjects, so it has attracted the attention of many scholars. However, this interactive technology is not mature in the design of experimental paradigms and the choice of imagination materials, and there are many issues that need to be discussed urgently. Therefore, in response to these problems, this article first expounds the neural mechanism of speech imagery. Then, by reviewing the previous BCI research of speech imagery, the mainstream methods and core technologies of experimental paradigm, imagination materials, data processing and so on are systematically analyzed. Finally, the key problems and main challenges that restrict the development of this type of BCI are discussed. And the future development and application perspective of the speech imaginary BCI system are prospected.


Subject(s)
Brain , Computers , Humans , Imagery, Psychotherapy , Speech , Technology
3.
Chinese Journal of Biotechnology ; (12): 882-892, 2022.
Article in Chinese | WPRIM | ID: wpr-927751

ABSTRACT

With the widespread application of genomics and transcriptomics in the genetics and cell biology of different species, synonymous codon usage bias has been gradually accepted and used to study the deep connection between biological evolution and biological phenotypes. It is an important part of the life activities that mRNA is expressed into proteins with normal biological activities. The synonymous codon usage patterns, which were named as 'the second genetic codon', can express genetic information carried by themselves at the levels of transcriptional regulations, translational regulations and metabolic activities through molecular mechanisms such as fine-tune translation selection. Some studies have shown that the length of mRNA half-life has significant impacts on mRNA activity and the process of transcription and translation. This review summarized the roles of synonymous codon usage patterns in transcription, translational regulation and post-translational modification, with the aim to better understand how organisms skillfully utilize the genetic effects caused by codon usage patterns to accurately synthesize different types of proteins, so as to ensure the growth or differentiation of the specific gene expression procedures to carry out smoothly and maintain the normal life cycle.


Subject(s)
Codon/genetics , Codon Usage , Half-Life , Protein Processing, Post-Translational , RNA, Messenger/genetics
4.
Ultrasonography ; : 75-82, 2021.
Article in English | WPRIM | ID: wpr-919501

ABSTRACT

Radiofrequency ablation (RFA) is a thermal ablation technique widely used for the management of benign thyroid nodules. To date, five academic societies in various countries have reported clinical practice guidelines, opinion statements, or recommendations regarding the use of thyroid RFA. However, despite some similarities, there are also differences among the guidelines, and a consensus is required regarding safe and effective treatment in Asian countries. Therefore, a task force was organized by the guideline committee of the Asian Conference on Tumor Ablation with the goal of devising recommendations for the clinical use of thyroid RFA. The recommendations in this article are based on a comprehensive analysis of the current literature and the consensus opinion of the task force members.

5.
Chinese Journal of Nephrology ; (12): 990-1000, 2021.
Article in Chinese | WPRIM | ID: wpr-911919

ABSTRACT

Objective:To report two cases of steroid-resistant nephrotic syndrome (SRNS) caused by LAMB2 gene mutation, and summarize the characteristics of genotype, clinical and pathological phenotypes of children with LAMB2 gene mutation. Methods:Two cases with SRNS caused by LAMB2 gene mutation were from Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in December 2013 and September 2019. The demographic, family history and clinical data of two cases were collected, and the peripheral blood genomic DNA was captured and sequenced by whole exome sequencing. PubMed, Medline, CNKI and Wanfang databases were searched to summarize the clinicopathological phenotypes and genotypes of patients with LAMB2 mutation. Results:Among the two cases with SRNS caused by LAMB2 gene mutation, the clinical phenotypes were all manifested as nephrotic level of proteinuria and hypoalbuminemia, and there was no extrarenal clinical manifestation. One case presented with basement membrane delamination and the other with focal segmental glomerulosclerosis (FSGS). LAMB2 mutations of two cases were Exon32 c.5390G>T(p.Cys1797Phe), Exon19 c.2557C>T(p.Arg853*) and Exon27 c.4370G>A(p.R1457Q), Exon23 c.3325G>A(p.E1109K), respectively. In literature retrieval, there were 37 cases with LAMB2 gene mutation, including 24 cases with renal biopsy data, 13 cases of focal segmental glomerulosclerosis (FSGS), 4 cases of minimal change disease, one case of diffuse mesangial sclerosis, one case of IgM nephropathy, two cases of thin basement membrane nephropathy, and three cases of mesangial hyperplasia. Among them, eight cases had basement membrane delamination tear. Among the 37 cases, 11 cases were homozygous, 22 cases were complex heterozygosity, and 4 cases were heterozygous mutation. Conclusions:LAMB2 mutation may cause delamination tear of glomerular basement membrane. The clinical phenotype is congenital nephrotic syndrome or SRNS. The literature review shows the extrarenal manifestations caused by LAMB2 mutation are mostly various ocular abnormalities, as well as respiratory, digestive and nervous system abnormalities, and the time of progression to end-stage renal disease is also different.

6.
Article in Chinese | WPRIM | ID: wpr-867835

ABSTRACT

Objective:To evaluate the pedicled bridge transplantation with medial leg skin flap and medial hemi-soleus muscle flap for the treatment of soft tissue defects at the contrallateral leg.Methods:Between January of 2012 and January of 2016, 8 patients with soft tissue defects at the leg were treated at Department of Orthopedic Surgery, Hand and Foot Surgery Hospital of Lanzhou. They were 5 men and 3 women, aged from 19 to 50 years (mean, 35 years). All of them were treated by bridge transplantation with medial leg skin flap and medial hemi-soleus muscle flap pedicled with posterior tibial artery. The size of the defects ranged from 10 cm×9 cm to 13 cm×8 cm. The immediate coverage of the muscle flaps and vessel pedicle was repaired by a meshed split-thickness skin graft. The donor site was closed directly. The therapeutic efficacy was assessed at the final follow-up according to the criteria by Iowa for tibial fractures.Results:All the skin flaps and muscle flaps survived without any vascular crisis. One case developed necrosis of small skin graft at the distal muscle flap which spontaneously healed after dressing change for 2 weeks. Their follow-up ranged from 2.5 to 4.5 years (mean, 3.8 years). A good contour was confirmed at the recipient area. By the Iowa criteria at the final follow-up, 3 cases were excellent, 4 good and one fair.Conclusion:Pedicled bridge transplantation with medial leg skin flap and medial hemi-soleus muscle flap is a good treatment for soft tissue defects at the contrallateral leg which has only one major blood vessel, reducing damage to the donor site.

8.
Article in Chinese | WPRIM | ID: wpr-796392

ABSTRACT

Objective@#To evaluate the minimally invasive splayed incisions in the internal fixation with a conventional calcaneal plate for calcaneal fractures of sanders types Ⅱ and Ⅲ.@*Methods@#This prospective study was conducted from May 1st, 2016 to December 1st, 2017 in the 40 patients with calcaneal fracture at Department of Orthopedics, Shanghai Pudong Hospital. Their ages ranged from 23 to 55 years (average, 39.5 years). According to the Sanders classification, 27 fractures were type Ⅱ and 13 type Ⅲ. They were all treated with a conventional calcaneal plate through minimally invasive splayed incisions. The Böhler and Gissane angles, the height, width and length of the affected calcaneus were compared between preoperation, 3 months after operation and the last follow-up; the clinical function of the affected feet was graded using the Maryland foot score; postoperative complications were observed.@*Results@#The 40 patients were followed up for an average of 12.5 months (from 11 to 16 months). All the skin incisions healed well with no skin necrosis or wound infection. No injury to the sural nerve occurred. All the fractures healed after an average of 8 weeks (from 7 to 10 weeks). All the patients resumed their routine daily activities and returned to their former work post after an average time of 4.1 months (from 3 to 6 months). At pre-operation, 3 months after operation and the last follow-up, their Böhler angles were respectively 19.2°±6.3°, 30.5°±6.4° and 29.9°±6.5°; their Gissane angles 103.9°±14.8°, 119.3°±5.6° and 119.8°±6.3°; their calcaneal heights (32.5±3.5) mm, (36.8±1.5) mm and (36.5±1.8) mm; their calcaneal widths (36.8±3.4) mm, (33.1±3.8) mm and (33.0±3.2) mm; their lengths (61.4±4.5) mm, (65.5±6.9) mm and (65.5±9.4) mm. In all the patients, the Böhler and Gissane angles and the calcaneal heights and lengths increased significantly while the calcaneal widths decreased significantly at 3 months after operation and the last follow-up (P<0.05). There were no significant differences between 3 months after operation and the last follow-up in the Böhler or Gissane angle, the height, width or length of the affected calcaneus (P>0.05). Their Maryland foot scores showed 35 excellent cases, 4 good cases and one fair case, giving an excellent and good rate of 97.5%.@*Conclusions@#A conventional calcaneal plate plus minimally invasive splayed incisions can be effective for calcaneal fractures of Sanders types Ⅱ and Ⅲ, leading to reduced wound complications, anatomical restoration of calcaneal morphology, and smooth subtalar articular surface.

9.
Article in Chinese | WPRIM | ID: wpr-791839

ABSTRACT

Objective To explore the feasibility and safety of kidney transplantation for pre-sensitized infants using deceased donors and summarize the relevant literature reports .Methods A second kidney transplantation was successfully performed for an 8-month-old pre-sensitized girl in July 2017 .She had a low level of donor specific antibody (DSA ) against human leucocyte antigen (HLA ) B62 due to severe acute rejection (AR) after her first kidney transplantation .For desensitization , plasmapheresis and intravenous immunoglobulin plus anti-CD20 antibodies were offered on operative day .Clinical data and outcomes were retrospectively analyzed .Results Renal graft regained immediate function after transplantation .Preformed DSA could be detected at 1 week .However ,there was no de novo DSA .At 1 year post-transplantation ,preformed DSA turned negative .During a follow-up period of 2 years ,renal graft showed an excellent function with a serum creatinine of 31 μmol/l and eGFR of 110 ml/min/1 .73m2 .No AR episode or proteinuria occurred .DSA stayed negative .Simultaneously physical development also caught up .Her height of 93 cm tall and weight of 13 .5 kg at month 24 & 8 months corresponded to normal grow th curve of her age .Conclusions Pre-sensitized infant could tolerate desensitization therapy well and achieve satisfactory outcomes .With surgical precisions and optimized managements ,kidney transplantation provides excellent renal functions and survivals for infants with organs from deceased donors .

10.
Article in Chinese | WPRIM | ID: wpr-791280

ABSTRACT

Objective To evaluate the minimally invasive splayed incisions in the internal fixation with a conventional calcaneal plate for calcaneal fractures of sanders types Ⅱ and Ⅲ.Methods This prospective study was conducted from May 1st,2016 to December 1st,2017 in the 40 patients with calcaneal fracture at Department of Orthopedics,Shanghai Pudong Hospital.Their ages ranged from 23 to 55 years (average,39.5 years).According to the Sanders classification,27 fractures were type Ⅱ and 13 type Ⅲ.They were all treated with a conventional calcaneal plate through minimally invasive splayed incisions.The B(o)hler and Gissane angles,the height,width and length of the affected calcaneus were compared between preoperation,3 months after operation and the last follow-up;the clinical function of the affected feet was graded using the Maryland foot score;postoperative complications were observed.Results The 40 patients were followed up for an average of 12.5 months (from 11 to 16 months).All the skin incisions healed well with no skin necrosis or wound infection.No injury to the sural nerve occurred.All the fractures healed after an average of 8 weeks (from 7 to 10 weeks).All the patients resumed their routine daily activities and returned to their former work post after an average time of 4.1 months (from 3 to 6 months).At pre-operation,3 months after operation and the last follow-up,their B(o)hler angles were respectively 19.2°± 6.3°,30.5°±6.4° and 29.9° ± 6.5°;their Gissane angles 103.9° ± 14.8°,119.3° ± 5.6° and 119.8° ± 6.3°;their calcaneal heights (32.5 ±3.5) mm,(36.8 ± 1.5) mm and (36.5 ± 1.8) mm;their calcaneal widths (36.8 ± 3.4) mm,(33.1 ±3.8) mmand (33.0±3.2) mm;their lengths (61.4±4.5) mm,(65.5±6.9) mmand (65.5 ±9.4) mm.In all the patients,the B(o)hler and Gissane angles and the calcaneal heights and lengths increased significantly while the calcaneal widths decreased significantly at 3 months after operation and the last follow-up (P < 0.05).There were no significant differences between 3 months after operation and the last follow-up in the B(o)hler or Gissane angle,the height,width or length of the affected calcaneus (P > 0.05).Their Maryland foot scores showed 35 excellent cases,4 good cases and one fair case,giving an excellent and good rate of 97.5%.Conclusions A conventional calcaneal plate plus minimally invasive splayed incisions can be effective for calcaneal fractures of Sanders types Ⅱ and Ⅲ,leading to reduced wound complications,anatomical restoration of calcaneal morphology,and smooth subtalar articular surface.

11.
Article in Chinese | WPRIM | ID: wpr-754806

ABSTRACT

Objective To analyze the ultrasound imaging features and clinical characteristics in patients with hepatocellular carcinoma ( HCC ) , and assess the value of ultrasound in preoperatively predicting microvascular invasion ( M VI) of HCC . Methods One hundred and seventy‐one patients with HCC were retrospectively collected from January 2016 to July 2018 . T he ultrasound imaging features and clinical data that may be associated with M VI were analyzed by univariate and multivariate analyses ,and the diagnostic efficacy of independent risk factors was further evaluated . ROC curves were plotted to compare the diagnostic efficacy of combined diagnostic mode 1 ,mode 2 ,peritumoral enhancement ,and tumor margin . Results Univariate analysis showed that the serum AFP level ,tumor size ,peritumoral hypoechoic halo , peritumoral enhancement , and tumor margin were significantly correlated with M VI ( P < 0 .05 ) . M ultivariate logistic regression analysis further indicated that peritumoral enhancement and non‐smooth tumor margin were the independent risk factors for predicting M VI . T he sensitivity ,specificity ,positive predictive value and negative predictive value of peritumoral enhancement and non‐smooth tumor margin were 51 .4% vs 83 .8% ,81 .4% vs 48 .5% ,67 .9% vs 55 .4% ,and 68 .7% vs 79 .7% ,respectively . T he AUC of mode 1 ,mode 2 ,peritumoral enhancement and tumor margin were 0 .741 ,0 .716 ,0 .664 ,and 0 .661 , respectively . Conclusions Preoperative ultrasound is valuable in predicting M VI of HCC . Peritumoral enhancement and non‐smooth tumor margins are independent risk factors for predicting M VI of HCC . T umor size ,hypoechoic halo around the tumor ,and serum AFP levels must be taken into account w hen predicting MVI of HCC by using preoperative ultrasound .

12.
China Pharmacy ; (12): 1796-1800, 2019.
Article in Chinese | WPRIM | ID: wpr-817234

ABSTRACT

OBJECTIVE: To provide reference for perfecting and improving the quality standard of Qiju dihuang oral liquid. METHODS: According to No. 0502 method stated in 2015 edition of Chinese Pharmacopeia (part Ⅳ), TLC method was used to identify the fruit of Chinese wolfberry, Dendranthema morifolium and Paeonia suffruticosa in Qiju dihuang oral liquid. Using the fruit of C. wolfberry, D. morifolium and paeonol as control, the deployment systems were trichloromethane-ethyl acetate-formic acid (6 ∶ 1 ∶ 0.5, V/V/V), trichloromethane-isopropanol-formic acid (10 ∶ 1 ∶ 0.5, V/V/V) and cyclohexane-ethyl acetate (3 ∶ 1, V/V). The contents of morroniside, loganin and paeonol in Qiju dihuang oral liquid were determined by HPLC. The determination was performed on InertSustain C18 column with mobile phase consisted of acetonitrile-0.03% phosphoric acid solution(gradient elution)at the flow rate of 1.0 mL/min. The detection wavelength was set at 240 nm (morroniside and loganin) and 274 nm (paeonol), and the column temperature was 40 ℃. The sample size was 10 μL. RESULES: In TLC of the fruit of C. wolfberry, D. morifolium and P. suffruticosa, same color spots were shown in the corresponding positions of reference substance/control chromatogram without interference from negative control. The linear ranges of morroniside, loganin and paeonol were 2.12-106.17, 1.91-95.63 and 4.78-239.16 μg/mL (R2=0.999 9, 0.999 9, 0.999 8), respectively. The limits of quantitation were 2.12, 1.91, 2.39 μg/mL; the limits of detection were 0.53, 0.48, 0.59 μg/mL, respectively; RSDs of precision, reproducibility and stability tests were lower than 2% (n=6). The average recoveries were 98.27%, 97.06% and 97.65% RSD were 0.80%, 1.18% and 1.36% (n=6). RSDs of durability tests were all lower than 2% (n=3). CONCLUSIONS: The established method is simple, specific and durable, and can provide reference for improving the quality standard of Qiju dihuang oral liquid.

13.
Article in Chinese | WPRIM | ID: wpr-696580

ABSTRACT

Bartter syndrome and Liddie syndrome are genetic renal tubular disorders characterized by hypokalemic alkalosis.Bartter syndrome is mainly an autosomal recessive disease,caused by mutations of one of the five ion channel genes in renal tubular epithelial cells.Plasma renin and aldosterone levels are increased but blood pressure is normal,the main treatment is to correct hypokalemia,to prevent and cure complications.Liddle syndrome is an autosomal dominant disease,caused by epithelial Na-channel gene mutation,and presented with increased blood pressure but decreased plasma levels of renin and aldosterone.Patients with Liddle syndrome should limit the intake of sodium and supplement potassium,take Triamterene or Amiloride to control hypertension.

14.
Chinese Journal of Orthopaedics ; (12): 1143-1149, 2018.
Article in Chinese | WPRIM | ID: wpr-708637

ABSTRACT

Objective In order to understand the chondrogenesis differentiation of mesenchymal stem cells in either hydrogel or pellet culture,we applied the two methods and reveal the possible mechanism and for further investigation.Methods In C3H10T1/2 chondrogenic differentiation,we apply extracellular matrix hydrogel mixed the cell suspensions of freshly prepared (including scaling chondroitin sulfate,sodium hyaluronate synthesis and cross-linking agent) co-culture system and high cell density pellet formed by centrifugation.Chondrogenic differentiation of C3H10T1/2 was induced by treatment with TGF-β3 (10 ng/ml),dexamethasone (100 nmol/L),ascorbic acid (50 ug/ml),1 ∶ 100 dilution ITS+Premix and high glucose-DMEM medium with 0.2 volume fraction fetal bovine serum.And high glucose-DMEM medium with 0.2 volume fraction fetal bovine serum is for control group.Histochemistry staining was utilized to identify extracellular proteoglycan and real-time PCR was performed to assess gene expression of SOX9,collagen Ⅱa1/Ⅹa1 and aggrecan for the 1st,2nd and 3rd week respectively.Results In the hydrogel model for 3 weeks chondrogenic differentiation,the expression of master transcription factor SOX9 was upregulated in both culture models.While the marker genes of collagen Ⅱa1 and collagen Ⅹa1 were all promoted in hydrogel culture,the aggrecan gene expression was peaked in pellet culture.In addition,immunocytochemistry analysis of the hydrogel and pellet for 3 week illustrated the expression of extracellular matrix and more obviously in the hydrogel model.Conclusion In compared with pellet culture,the MSCs in the hydrogel were more likely promoted chondrogenesis leading to the eventual expression of marker genes.And the hydrogel would be applied in regeneration of cartilage injury.

15.
Chinese Journal of Trauma ; (12): 220-224, 2018.
Article in Chinese | WPRIM | ID: wpr-707294

ABSTRACT

Objective To investigate the efficacy of low-profile anatomical buttress plate in treating vertical shear medial malleolus fractures.Methods A retrospective case series study was conducted on the clinical data of 20 patients with vertical shear medial malleolus fractures admitted from February 2013 to February 2015.A total of 13 males and seven females were included in the study,with an average age of 45.8 years.There were 11 patients with medial combined with lateral malleolus fractures,one with medial malleolus fracture,six with medial combined with posterior and lateral malleolus fractures,and two with medial combined with distal tibial fractures.All patients were treated with low-profile anatomical buttress plate.Bone union,reduction loss,internal fixation stability,and incidence of ostearthritis were recorded.The postoperative ankle function was evaluated according to American Orthopedic Foot and Ankle Society (AOFAS) score.Results All patients were followed up for26.5 months on average (range,18-37 months).Anatomical reduction was seen in all patients according to X ray.Patients were seen bone union after an average of 15.6 weeks.After 8-16 weeks,patients were able to walk and return to work,averaging 12.5 weeks.Patients were able to do physical exercise after 20-26 weeks (mean,22.5 weeks).The follow-up showed no complications such as reduction loss,internal fixation loosening or breakage.Bone nonunion was not seen,and no manifestation of osteoarthritis was shown in the images.An average AOFAS score of 88.6 points (range,75-100 points) was reported at the final follow-up.The scoring outcome was excellent in 13 patients and good in seven,with excellent and good rate of 100%.Conclusions The low-profile anatomical buttress plate for fixation of vertical shear medial malleolus fractures has advantages of firm fixation,early mobilization and sound function recovery.The plate can be a safe and effective method for the treatment of vertical shear medial malleolus fractures.

16.
Chinese Journal of Pediatrics ; (12): 835-845, 2018.
Article in Chinese | WPRIM | ID: wpr-810239

ABSTRACT

Objective@#To establish comprehensive laboratory reference intervals for Chinese children.@*Methods@#This was a cross-sectional multicenter study. From June 2013 to December 2014, eligible healthy children aged from 6-month to 17-year were enrolled from 20 medical centers with informed consent. They were assessed by physical examination, questionnaire survey and abdominal ultrasound for eligibility. Fasting blood samples were collected and delivered to central laboratory. Measurements of 15 clinical laboratory parameters were performed, including estradiol (E2), testosterone(T), luteinizing hormone(LH), follicle-stimulating hormone(FSH), alanine transaminase(ALT), serum creatinine(Scr), cystatin C, immunoglobulin A(IgA), immunoglobulin G(IgG), immunoglobulin M(IgM), complement (C3, C4), alkaline phosphatase(ALP), uric acid(UA) and creatine kinase(CK). Reference intervals were established according to central 95% confidence intervals for reference population, stratified by age and sex.@*Results@#In total, 2 259 children were enrolled. Finally, 1 648 children were eligible for this study, including 830 boys and 818 girls, at a mean age of 7.4 years. Age- and sex- specific reference intervals have been established for the parameters. Reference intervals of sex hormones increased gradually with age. Concentrations of ALT, cystatin C, ALP and CK were higher in children under 2 years old. Serum levels of sex hormones, creatinine, immunoglobin, CK, ALP and urea increased rapidly in adolescence, with significant sex difference. In addition, reference intervals were variable depending on assay methods. Concentrations of ALT detected by reagents with pyridoxal 5'-phosphate(PLP) were higher than those detected by reagents without PLP. Compared with enzymatic method, Jaffe assay always got higher results of serum creatinine, especially in children younger than 9 years old.@*Conclusion@#This study established age- and sex- specific reference intervals, for 15 clinical laboratory parameters based on defined healthy children.

17.
Frontiers of Medicine ; (4): 550-558, 2018.
Article in English | WPRIM | ID: wpr-772719

ABSTRACT

Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G > C and c.3062C > T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.


Subject(s)
Alkalosis , Bartter Syndrome , China , Cystic Fibrosis , Diagnosis , Genetics , Cystic Fibrosis Transmembrane Conductance Regulator , Genetics , Diagnosis, Differential , Exome , Female , Humans , Hypokalemia , Infant , Male , Mutation
18.
Article in Chinese | WPRIM | ID: wpr-607427

ABSTRACT

Objective To understand the difference of serological characteristic between alloantibodies,'simple'Rhspecific autoantibodies and autoantibodies mimicking alloantibodies by studies of a patient who produces alloantibodies and autoantibodies that to distinguish Serologically them in order to more appropriate RBC component transfusion administration would be performed for patients.Methods Several serological methods were performed to the patient's serum samples for identification of antibodies by using two antibody screening cell reagents from different manufacturers.Using adsorption of the patient's Rh antibodies in the presence of LISS with the antibody was similar to that of the antigen negative cell from a donor who had a ccDEE Rh type and O type,and to detect antibodies in the absorbed serum and the eluting solution.Results The patient had a ccDEE Rh type with a positive direct antiglobulin test (DAT).Serum antibodies were identified as IgM anti-C,anti-e and IgG anti-e;the possibility of anti-Ce antibody is not excluded.After absorption,serum antibodies were identified as IgM anti-C,anti-e and IgG anti-e;anti-Ce antibody is not excluded.The antibody in patient's RBC elution was identified as IgG anti-e antibody.Conclusion Alloantibody and mimicking alloantibody can be distinguished by comprehensive analysis of patient's Rh phenotype,DAT result and antibody specificity in the serum and absorbed serum and elution of RBC.The low affinity antibody can be better absorbed by adding low ionic liquid (LISS).

19.
Article in Chinese | WPRIM | ID: wpr-357828

ABSTRACT

The linear analysis for heart rate variability (HRV), including time domain method, frequency domain method and time-frequency analysis, has reached a lot of consensus. The non-linear analysis has also been widely applied in biomedical and clinical researches. However, for non-linear HRV analysis, especially for short-term non-linear HRV analysis, controversy still exists, and a unified standard and conclusion has not been formed. This paper reviews and discusses three short-term non-linear HRV analysis methods (fractal dimension, entropy and complexity) and their principles, progresses and problems in clinical application in detail, in order to provide a reference for accurate application in clinical medicine.


Subject(s)
Electrocardiography , Entropy , Fractals , Heart Rate , Humans
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