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1.
Article in English | WPRIM | ID: wpr-928984

ABSTRACT

Two patients with Gitelman syndrome were admitted to the Department of Endocrinology, Third Xiangya Hospital of Central South University. The genomic DNA from the patients' peripheral blood was extracted and the whole-exome sequencing was performed to detect the possible mutations. The function of the mutation sites was analyzed by bioinformatics software. Through whole-exome sequencing and Sanger sequencing, we have found that 2 patients with Gitelman syndrome carried compound heterozygous mutations of SLC12A3 gene, which were c.486_490delTACGGinsA, p.R943W, p.D486N, and p.R928C. Among them, c.486_490delTACGGinsA insertion deletion mutation causes frame shift and protein truncation. The p.R943W, p.D486N, and p.R928C of SLC12A3 gene were predicted to be pathogenic mutations by SIFT, PolyPhen2, and Mutation Taster. These 4 mutations were all reported, but p.R943W was first reported in Chinese population. Gitelman syndrome is rare in clinic and the rate of missed diagnosis is high. Early genetic analysis in patients with Gitelman syndrome is helpful to determine the etiology and guide the treatment.


Subject(s)
Genetic Testing , Gitelman Syndrome/genetics , Humans , Mutation , Pedigree , Solute Carrier Family 12, Member 3/genetics , Whole Exome Sequencing
2.
Chinese Acupuncture & Moxibustion ; (12): 1338-1342, 2021.
Article in Chinese | WPRIM | ID: wpr-921056

ABSTRACT

OBJECTIVE@#To compare the effect of @*METHODS@#A total of 74 patients with RIF of thin endometrium type undergoing freeze-thaw embryo transfer were randomly divided into an observation group (37 cases) and a control group (37 cases). The patients in the control group were treated with freeze-thaw embryo transfer in hormone replacement cycle, and the estradiol valerate tablets were taken orally from the fifth day of menstruation, 2 mg per day. On the basis of the control group, the observation group was additionally treated with @*RESULTS@#The clinical pregnancy rate was 37.8% (14/37) in the observation group, which was higher than 16.2% (6/37) in the control group (@*CONCLUSION@#On the basis of conventional medication,


Subject(s)
Acupuncture Therapy , Embryo Transfer , Endometrium , Female , Humans , Pregnancy , Pregnancy Outcome , Pregnancy Rate
3.
Article in Chinese | WPRIM | ID: wpr-912294

ABSTRACT

Objective:To explore the feasibility and effectiveness of 3D printing aortic model for preoperative evaluation and surgical simulation, and to assist interventional treatment of coarctation of the aorta(CoA).Methods:From December 2017 to January 2019, 8 patients with congenital coarctation of the aorta who underwent percutaneous balloon dilatation and covered stent placement in Xijing Hospital of Air Force Military Medical University were analyzed retrospectively. Among them, 7 cases were male and 1 case was female. The age was(32.00±14.93) years old. Before operation, CT data of patients' heart and aorta were collected, reconstructed with Mimics software, and 3D printing technology was used to make the model of patients' aortic lesions. Before operation, the operation simulation was carried out to determine the best operation scheme and estimate the possible situation, and the relevant clinical data of patients during hospitalization and follow-up were collected.Results:One stent graft was successfully implanted into CoA through femoral artery in all 8 patients. The mean diameter of CoA increased from(3.70±2.94) mm before operation to(18.01±1.51) mm immediately after operation( P<0.05), and the mean systolic pressure difference decreased from(83.75±25.44) mmHg before operation to(14.63±8.09) mmHg after operation( P<0.05). The mean systolic blood pressure of the right upper extremity decreased from(204.13±22.31) mmHg before operation to(145.63±32.08) mmHg after operation( P<0.05), and there was no significant difference between the two groups. During the period of hospitalization and follow-up, no corresponding cardiovascular complications were found. Conclusion:The short-term effect of percutaneous balloon dilatation covered stent implantation on CoA in adolescents and adults is obvious. 3D printing model can reproduce the anatomical model of CoA site of patients individually, which is feasible and effective for the preoperative evaluation of CoA and the preparation of operation plan.

4.
Article in Chinese | WPRIM | ID: wpr-911413

ABSTRACT

Objective:Kallmann syndrome(KS) is a complex genetic disease characterized by congenital hypogonadotropic hypogonadism and anosmia. More than 20 genes have been reported to be associated with KS. Herein, we explore potential genetic aberration in 3 KS patients using the whole-exome sequencing. The potentially pathogenic variants filtered were validated by Sanger sequencing.Methods:Genomic DNA was extracted from the peripheral blood of 3 patients with KS and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants identified using whole-exome sequencing. The function of the mutation sites were analyzed with bioinformatics software.Results:The proband 1 was a 25 years old male, characterized by lower gonadotropin gonad hypofunction, early grey hair and bilateral sensorineural hearing loss. A heterozygous mutation c. 475C>T(p.R159W) of SOX10 gene was detected in the proband 1. His mother, sister and cousin who had KS phenotype were also found carrying this mutation, showing an autosomal dominant inheritance. The proband 2 was a 15-year-old male with hypogonadotropic hypogonadism and unilateral renal agenesis. The proband was hemizygous for c. 844delC(p.R282Vfs*28) of ANOS1 gene, his mother was heterozygous for the mutation, which was consistent with the X-linked recessive inheritance. The proband 3 was a 21 years old female, characterized by hypogonadotropic hypogonadism and anosmia. A heterozygous missense mutation c. 149G>A(p.R50Q) was detected in FGF17 gene. The mutation p. R50Q was predicted to be pathogenic by the SIFT and PolyPhen2 programs, and has not been reported in HGDM database yet, which considered to be a novel mutation.Conclusion:KS is a clinically and genetically heterogeneous disease. In this study, ANOS1 c. 844delC, SOX10 c. 475C>T and FGF17 c. 149G>A mutations were found in 3 patients with KS by whole exome sequencing, which would expand the genotypic and phenotype spectrum of KS.

5.
Article in Chinese | WPRIM | ID: wpr-911399

ABSTRACT

Objective:To explore the underlying genetic cause in two patients with mucopolysaccharidosis(MPS)using the whole-exome sequencing.Methods:Genomic DNA was extracted from the peripheral blood of two patients with MPS and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the mutation sites was analyzed by bioinformatics software. The effect of the splice mutation on mRNA was further determined by reverse transcription-PCR(RT-PCR).Results:The proband 1 was a 25-year-old male, who carried compound heterozygous mutations of α-L-iduronidas(IDUA) gene: p. T179R and p. S633L, and was diagnosed as MPSⅠ. His mother and sister carried heterozygous p. T179R, while his father carried heterozygous p. S633L, consistent with the autosomal recessive inheritance pattern. The proband 2 was a 3-year-old male, who was hemizygous for IVS 6-8A>G of iduronate-2-sulfatase(IDS) gene. His mother and grandmother were heterozygous for this mutation, consistent with the X-linked recessive inheritance. The proband 2 was diagnosed as MPSⅡ. Sequencing of RT-PCR products showed that the IVS 6-8A>G mutation activated an upstream cryptic splice-site in intron 6, leading to 7 nucleotide insertion in exon 7, frameshift, and shorter peptide chain.Conclusion:In this study, IDUA p. T179R and p. S633L, and IDS IVS 6-8A>G mutations were found in two patients with MPS by whole exome sequencing, which further expanded the genotypic and phenotype spectrum of MPS.

6.
Article in Chinese | WPRIM | ID: wpr-888334

ABSTRACT

OBJECTIVE@#To explore the feasibility and clinical effects of arthroscopic treatment for the calcific tendinitis at soft tissues around hip.@*METHODS@#A total of 16 patients diagnosed as the calcific tendinitis at soft tissues around hip from May 2013 to July 2018 were retrospectively analyzed. All the 16 patients received arthroscopic procedures. There were 10 males and 6 females with an average age of 35 to 63 (44.50±6.67) years old and 9 left hips, 6 right hips were involved. The course of disease were 1 to 8(3.18±1.97) days. Clinical effects were evaluated with visual analogue scale(VAS), modified Harris hip scores (HHS), nonarthritic hip score (NAHS) and imaging examinations before operation, 1 day after operation and the final follow-up.@*RESULTS@#All 16 patients successfully finished the arthroscopic procedures in 0.5 to 1.2 (0.75±0.21) hours. Primary healing of incision were obtained without any complications of infection, wound hematocele and neurovascular injury. All 16 patients received an average postoperative follow-up of 6 to 12 (9.6±2.3) months. Before operation, the VAS were 7.88±0.72, modified HHS were 29.25±3.23, NAHS were 27.42±3.08. The 1st day postoperative VAS were 2.19±0.66, modified HHS were 82.56± 5.64, NAHS were 82.11±2.94, all the difference were statistically significant between before and 1 day after operation (@*CONCLUSION@#Arthroscopic treatment for the calcific tendinitis at soft tissues around hip is effective.It has advantages of minimal invasive, rapid pain relief, rapid hip joint function recovery and definite clinical effects.


Subject(s)
Adult , Arthroscopy , Female , Follow-Up Studies , Hip/surgery , Hip Joint/surgery , Humans , Male , Middle Aged , Retrospective Studies , Tendinopathy/surgery , Treatment Outcome
7.
Article in Chinese | WPRIM | ID: wpr-886533

ABSTRACT

@#Objective    To discuss the operation skill and clinical effects of using domestic balloon-expandable Prizvalve® transcatheter "valve-in-valve" to treat the degenerated bioprosthesis in the tricuspid position. Methods    All the admitted surgical tricuspid valve bioprosthetic valve replacement patients were evaluated by computerized tomography angiography (CTA), ultrasound, and 3D printing technology, and 2 patients with a degenerated bioprosthesis were selected for tricuspid valve "valve-in-valve" operation. Under general anesthesia, the retro-preset Prizvalve® system was implanted into degenerated tricuspid bioprosthesis via the femoral vein approach under the guidance of transesophageal echocardiographic and fluoroscopic guidance. Results    Transcatheter tricuspid valve implantation was successfully performed in both high-risk patients, and tricuspid regurgitation disappeared immediately. The operation time was 1.25 h and 2.43 h, respectively. There was no serious complication in both patients, and they were discharged from the hospital 7 days after the operation. Conclusion    The clinical effect of the degenerated tricuspid bioprosthetic valve implantation with domestic balloon-expandable valve via femoral vein approach "valve-in-valve" is good. Multimodality imaging and 3D printing technology can safely and effectively guide the implementation of this innovative technique.

8.
Article in Chinese | WPRIM | ID: wpr-886496

ABSTRACT

@#Objective    To investigate the feasibility and safety of transcatheter aortic valve replacement (TAVR) through apical approach for aortic regurgitation of large annulus. Methods    From November 2019 to May 2020, 10 male patients aged 64.50±4.20 years with aortic valve insufficiency (AI) underwent TAVR in the Department of Cardiovascular Surgery, Xijing Hospital. The surgical instruments were 29# J-valveTM modified and the patients underwent TAVR under angiography. The preoperative and postoperative cardiac function, valve regurgitation, complications and left ventricular remodeling were summarized by ultrasound and CT before and after TAVR. Results    A total of 10 valves were implanted in 10 patients. Among them, 1 patient was transferred to the aortic arch during the operation and was transferred to surgical aortic valve replacement; the other 9 patients were successfully implanted with J-valve, with 6 patients of cardiac function (NYHA) class Ⅱ, 4 patients of grade Ⅲ. And there was a significant difference between preoperation and postoperation in left ventricular ejection fraction (44.70%±8.78% vs. 39.80%±8.48%, P<0.05) or aortic regurgitation (1.75±0.72 mL vs. 16.51±8.71 mL, P<0.05). After 3 months, the patients' cardiac function was good. Conclusion    TAVR is safe and effective in the treatment of severe valvular disease with AI using J-valve.

9.
International Eye Science ; (12): 1637-1640, 2021.
Article in Chinese | WPRIM | ID: wpr-886451

ABSTRACT

@#AIM: To analyze the etiology and clinical characteristics of patients with vitreous hemorrhage, and to provide a scientific evidence for the clinical diagnosis, treatment and prevention of vitreous hemorrhage. <p>METHODS: We has collected and investigate 1 413 cases(1 437 eyes)from March 2013 to November 2019 in the Second Hospital of Lanzhou University, which had treated with vitreous hemorrhage as initial diagnosis and under-went pars plana vitrectomy(PPV)treatment.<p>RESULTS: Among 1 437 eyes with vitreous hemorrhage, the major causes of vitreous hemorrhage were proliferative diabetic retinopathy(PDR)(37.72%), retinal vein occlusion(RVO)(27.00%), and ocular trauma(13.15%). Analysis of the etiology of the age group, among 308 eyes in the youth group, the main causes were ocular trauma(35.06%), PDR(22.73%)and Ealse disease(11.69%); 590 eyes in the middle-aged group. Based on the affected eyes, the main causes were PDR(45.08%), RVO(28.98%)and ocular trauma(10.00%); From 539 eyes in the elderly group, the main cause was PDR(38.22%)and RVO(34.69%)and retinal tears and retinal detachment(RT/RD)(7.05%). There were significant differences in the etiology of each age group(<i>P</i>=0.003). Gender etiology analysis showed that among 859 males with vitreous hemorrhage, the top 3 pathogenic factors were PDR(36.32%), RVO(21.65%)and ocular trauma(18.98%); among 578 female eyes, the main causes were respectively for PDR(39.79%), RVO(34.95%)and RT/RD(6.92%), there was a significant difference in etiology between males and females(<i>P</i><0.001).<p>CONCLUSION: PDR, RVO and ocular trauma were the main causes of vitreous hemorrhage in our study. Different age groups and genders caused different causes of vitreous hemorrhage. PDR and RVO were the primary causes of vitreous hemorrhage in middle-aged and elderly men and women; Ocular trauma was the primary cause of young male patients; PDR was the primary cause of young female patients.

10.
Article in Chinese | WPRIM | ID: wpr-885112

ABSTRACT

Type 1 diabetes mellitus and autoimmune thyroid disorders are the most common combination of autoimmune polyendocrine syndrome type Ⅲ(APS Ⅲ). However, APS Ⅲ combined with myasthenia gravis is rare. We described a male patient with myasthenia gravis, type 1 diabetes mellitus, and Hashimoto thyroiditis, who was diagnosed as APS Ⅲ. The human leukocyte antigen (HLA)type was analyzed in this patient. We subsequently reviewed 11 cases of APS Ⅲ combined with myasthenia gravis. This review revealed that HLA-DR9/DQ9 might be a specific HLA subtype associated with APS Ⅲ and complicated with myasthenia gravis .

11.
Acta Pharmaceutica Sinica B ; (6): 534-543, 2021.
Article in English | WPRIM | ID: wpr-881152

ABSTRACT

Developing tumor-specific drug delivery systems with minimized off-target cargo leakage remains an enduring challenge. In this study, inspired from the natural cryptobiosis explored by certain organisms and stimuli-responsive polyphenol‒metal coordination chemistry, doxorubicin (DOX)-conjugated gelatin nanoparticles with protective shells formed by complex of tannic acid and Fe

12.
Article in Chinese | WPRIM | ID: wpr-869992

ABSTRACT

Objective:To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism.Methods:Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs).Results:The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs. Conclusion:A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease.

13.
Article in Chinese | WPRIM | ID: wpr-867076

ABSTRACT

Objective:To explore the characteristics of cognitive emotion regulation in patients with hepatolenticular degeneration, and the relationship with brain lesions.Methods:The Chinese version of cognitive emotion regulation (CERQ-C) was used to investigate 78 patients with hepatolenticular degeneration(WD group) and 84 healthy adults, and all patients were examined with brain 3.0 T magnetic resonance.The characteristics of cognitive and emotional regulation in WD group were analyzed when they encounterd negative life events, and the differences between WD group and healthy people.The relationship was further analyzed between different brain structure damage and cognitive emotion regulation combined with brain MRI.Results:(1)The scores of self censure, contemplation and catastrophes in WD group((11.41±2.46), (11.27±3.09), (9.53±2.85), respectively) were significantly higher than those in healthy control group(respectively(9.57±2.81), (9.79±2.63), (8.05±2.42))( t=4.417, 3.409, 3.563, P<0.01). The scores of refocus planning and positive reevaluation ((13.26±3.41), (13.49±3.14)) in MD group were significantly lower than those of the healthy control group ((14.88±2.57), (14.42±2.41))( t=-3.404, -2.103, P<0.05). (2)Multiple linear regression analysis showed that frontal lobe injury was the influencing factor of the score of positive re-evaluation ( B=-2.142, P=0.035), thalamic injury ( B=2.058, P=0.037) and putamen injury ( B=-2.348, P=0.011) were the influencing factors of the score of contemplation. Conclusion:WD patients are more likely to choose self censure, contemplation and catastrophes than healthy people when they encounter negative life events.Different brain regions have different effects on the choice of cognitive emotion regulation in WD patients.

14.
Article in Chinese | WPRIM | ID: wpr-864873

ABSTRACT

Objective:To investigate the effects of critical care chest ultrasonic examination (CCUE) by intensive care physician on fluid management among septic shock patients in pediatric intensive care unit (PICU).Methods:Forty children from PICU who were diagnosed as septic shock in Shenzhen Bao′an Maternal and Child Health Hospital were included in this study.Twenty-two of them who were hospitalized in PICU during January 2017 to December 2018, under the care of 4 PICU physicians who had certificates of the Chinese Critical Ultrasound Study Group(CCUSG) were defined as CCUE group.Eighteen PICU patients from January 2014 to December 2015 having no access to CCUE were recruited as control group.Both groups were treated according to the septic shock management guidelines with routine anti-shock and anti-infection therapy, as well as mechanical ventilation.Fluid management following conventional protocol was performed in the control group.While in the CCUE group, CCUE was applied to monitor the hemodynamic status for adjustment in fluid management.Results:Compared with the control group, the CCUE group had shorter mechanical ventilation time as well as less fluid intake and output within 48 hours after admission[(4.68±2.06)d vs.(7.33±0.49)d, (6.34±1.85)ml/(kg·h) vs.(8.55±0.39) ml/(kg·h), (2.47±1.22)ml/(kg·h) vs.(6.18±1.72)ml/(kg·h)] ( P<0.05). The CCUE group also had a more positive fluid balance and larger dosage of midazolam and fentanyl administration[(3.87±2.33)ml/(kg·h) vs.(2.37±2.10)ml/(kg·h), (5.62±2.39)μg/(kg·min) vs.(1.68±0.82)μg/(kg·min), (1.41±0.39)μg/(kg·h) vs.(0.95±0.56)μg/(kg·h)] ( P<0.05). The two groups showed no differences in vasoactive-inotropic score within 48 h(11.11±6.08 vs.9.90±4.12), dosage of furosemide[(1.07±0.52)mg/(kg.d) vs.(0.94±0.15)mg/(kg·d)], length of PICU stay[(10.73±7.48)d vs.(10.00±2.91)d], intubation rate after 1 hour of volume resuscitation[54.5%(12/22)vs.33.33%(6/18)] or mortality[8.3%(2/24)vs.5.3%(1/19)] ( P>0.05). Conclusion:Application of CCUE helps to optimize fluid management and shorten the ventilation time among children with septic shock in PICU.

15.
Article in Chinese | WPRIM | ID: wpr-864058

ABSTRACT

Objective:To investigate the isolation characteristics and the antibiotic resistance of Streptococcus pneumoniae in hospitalized children from the Bao′an District of Shenzhen for many consecutive years, and to provide evidence for the assessment as well as clinical prevention and treatment of Streptococcus pneumoniae infection. Methods:The isolation rate and sample source of Streptococcus pneumoniae isolates as well as age composition of hospitalized children in Bao′an Maternal and Child Health Hospital of Shenzhen city from January 2012 to December 2018 were retrospectively analyzed.The susceptibility of the isolates to antibiotics was tested by disk diffusion method and E-test method. Results:(1) From 2012 to 2018, a total of 90 807 specimens were retrospectively summarized, 9 193 strains of Streptococcus pneumoniae were isolated, with an isolation rate of 10.1%, which was the first pathogen; 98.68% (9 072/9 193 cases) from respiratory tract samples and 97.20% from sputum samples.Among 107 strains isolated from aseptic body fluid specimens, 97 strains were blood specimens. Streptococcus pneumoniae was the most common bacteria with positive culture in aseptic body fluids.(2) The isolation rate of Streptococcus pneumoniae was 10.7% in children under 2 years old, 10.2% in children between 2 and 5 years old and 4.1% in children over 5 years old.About 97% of Streptococcus pneumoniae isolates came from children under 5 years old.(3) According to breakpoints of non-meningitis strains, the sensitivity rate of parenteral Penicillin was 93.18%, the mediation rate was 6.79%, the resistance rate was only 0.03%, the lowest drug concentration to inhibit the growth of 50% bacteria(MIC 50) value was 0.50 and the lowest drug concentration to inhibit the growth of 90% bacteria(MIC 90) value was 2.00; the sensitivity rate of Ceftria-xone was 76.55%, the mediation rate was 20.18%, the resistance rate was 3.26%, the MIC 50 value was 1.00 and the MIC 90 value was 2.00; when interpreted by the breakpoint of meningitis strains, the resistance rate of extra-gastrointestinal Penicillin reached 77.22%, and the mediation rate of Ceftriaxone increased to 30.48% and the drug resistance rate reached 18.45%.The drug resistance rates of Erythromycin, Clindamycin, Tetracycline and Compound neomycin were all over 85.00%.The resistance rates against Levofloxacin and Chloramphenicol were 0.16% and 7.85% respectively.No Vancomycin-resistant Streptococcus pneumoniae was found. Conclusions:Streptococcus pneumoniae is the first bacterial pathogen causing respiratory tract and invasive infection in hospitalized children under 5 years old in this area.Penicillin is still the preferred drug for non-meningitis pneumococcal infection, but the drug resistance rate is high in meningitis patients.

16.
Article in Chinese | WPRIM | ID: wpr-799209

ABSTRACT

Objective@#To investigate the effects of critical care chest ultrasonic examination (CCUE) by intensive care physician on fluid management among septic shock patients in pediatric intensive care unit (PICU).@*Methods@#Forty children from PICU who were diagnosed as septic shock in Shenzhen Bao′an Maternal and Child Health Hospital were included in this study.Twenty-two of them who were hospitalized in PICU during January 2017 to December 2018, under the care of 4 PICU physicians who had certificates of the Chinese Critical Ultrasound Study Group(CCUSG) were defined as CCUE group.Eighteen PICU patients from January 2014 to December 2015 having no access to CCUE were recruited as control group.Both groups were treated according to the septic shock management guidelines with routine anti-shock and anti-infection therapy, as well as mechanical ventilation.Fluid management following conventional protocol was performed in the control group.While in the CCUE group, CCUE was applied to monitor the hemodynamic status for adjustment in fluid management.@*Results@#Compared with the control group, the CCUE group had shorter mechanical ventilation time as well as less fluid intake and output within 48 hours after admission[(4.68±2.06)d vs.(7.33±0.49)d, (6.34±1.85)ml/(kg·h) vs.(8.55±0.39) ml/(kg·h), (2.47±1.22)ml/(kg·h) vs.(6.18±1.72)ml/(kg·h)] (P<0.05). The CCUE group also had a more positive fluid balance and larger dosage of midazolam and fentanyl administration[(3.87±2.33)ml/(kg·h) vs.(2.37±2.10)ml/(kg·h), (5.62±2.39)μg/(kg·min) vs.(1.68±0.82)μg/(kg·min), (1.41±0.39)μg/(kg·h) vs.(0.95±0.56)μg/(kg·h)] (P<0.05). The two groups showed no differences in vasoactive-inotropic score within 48 h(11.11±6.08 vs.9.90±4.12), dosage of furosemide[(1.07±0.52)mg/(kg.d) vs.(0.94±0.15)mg/(kg·d)], length of PICU stay[(10.73±7.48)d vs.(10.00±2.91)d], intubation rate after 1 hour of volume resuscitation[54.5%(12/22)vs.33.33%(6/18)] or mortality[8.3%(2/24)vs.5.3%(1/19)] (P>0.05).@*Conclusion@#Application of CCUE helps to optimize fluid management and shorten the ventilation time among children with septic shock in PICU.

17.
Article in Chinese | WPRIM | ID: wpr-798593

ABSTRACT

Objective@#To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism.@*Methods@#Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs).@*Results@#The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs.@*Conclusion@#A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease.

18.
Article in English | WPRIM | ID: wpr-827390

ABSTRACT

OBJECTIVES@#To describe the clinical characteristics and outcomes of severely ill patients with coronavirus disease 2019, and to investigate the relationship between plasma glucose level and the prognosis of severely ill patients with coronavirus disease 2019.@*METHODS@#We enrolled 52 severely ill patients with coronavirus disease 2019. Among them, 12 cases progressed to critical illness. The clinical and biochemical characteristics of severely and critically ill patients were compared.@*RESULTS@#Compared with the severely ill patients, critically ill patients had higher white blood cell and neutrophil counts, as well as higher levels of -dimer, IL-6 and C-reactive protein (all <0.05). Before treatment, the fasting plasma glucose (FPG) levels were significantly higher in the critically ill patient's group [(10.23±3.71) mmol/L] compared to those in the severely ill patients [(7.12±3.35) mmol/L, <0.05]. After adjusting for age, gender, and course of the disease, fasting blood glucose at admission (OR=1.308, 95% CI 1.066 to 1.606, =0.01) and hyperglycemia at admission (OR=29.198, 95% CI 2.903 to 293.639, =0.004) were closely related to whether severely ill patients progressed to critical patients with coronavirus disease 2019. In our study, 15 (34.8%) of the severely ill and 10 (83.3%) critically ill patients received the steroid treatment. Compared with the severely ill patients, the FPG levels in critically ill patients were higher (<0.05).@*CONCLUSIONS@#Fasting hyperglycemia at admission is a significant predictor for the prognosis of severely ill patients with coronavirus disease 2019. Closely monitoring and the optimal management of hyperglycemia may improve the prognosis of patients with coronavirus disease 2019.


Subject(s)
Betacoronavirus , Blood Glucose , Coronavirus Infections , Blood , Diagnosis , Critical Illness , Humans , Hyperglycemia , Leukocyte Count , Pandemics , Pneumonia, Viral , Blood , Diagnosis , Prognosis
19.
Article in English | WPRIM | ID: wpr-880609

ABSTRACT

Type 1 diabetes (T1D) is an autoimmune disease characterized by T-cell mediated destruction of pancreatic B cells, absolute deficiency in insulin, and hyperglycemia. The incidence of T1D is increased sharply after the middle of the 20th century, suggesting that the environmental factors affect the occurrence and development of T1D. The diversity of human intestinal flora forms early in life and tends to stabilize around age 3. Early intestinal flora is in a dynamic process of change and is closely related to the maturation of the immune system, suggesting that early environmental exposure may be involved in the development of T1D. A variety of factors such as antibiotics and cesarean section can affect the colonization of early intestinal flora. To clarify the influence of these factors on early intestinal flora and its association with T1D, it is necessary to understand the pathogenesis of T1D and to provide an effective means for the primary prevention of T1D.


Subject(s)
Cesarean Section , Child, Preschool , Diabetes Mellitus, Type 1 , Female , Gastrointestinal Microbiome , Humans , Insulin , Insulin-Secreting Cells , Pregnancy
20.
Article in English | WPRIM | ID: wpr-880595

ABSTRACT

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.


Subject(s)
Adrenal Gland Neoplasms , Child , Genes , Humans , Male , Multiple Endocrine Neoplasia , Multiple Endocrine Neoplasia Type 2a/genetics , Multiple Endocrine Neoplasia Type 2b/genetics , Mutation , Proto-Oncogene Proteins c-ret/genetics , Thyroid Neoplasms/genetics
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