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Objective:To explore the clinical and genetic characteristics of 5α-reductase 2 deficiency syndrome(5α-RD2).Methods:Retrospective analysis of three cases of 5α-RD2 to summarize clinical data. Genetic testing was conducted using chromosome karyotyping analysis, whole-exome sequencing(WES), Sanger sequencing, and bioinformatics analysis. The effect of the novel variant on the structure of the 5α-reductase was evaluated by studying the homology modeling structure using SWISSMODEL and PyMoL.Results:The patients of all three cases have social gender as female. In Case 1, a 6-year-old patient sought medical attention due to abnormal external genitalia development. In Cases 2 and 3, 15-year-old patients presented with primary amenorrhea, and they showed masculinization of secondary sexual characteristics during puberty. In all three cases, the external genitalia exhibited varying degrees of masculinization, with clitoromegaly resembling a small penis and accompanying cryptorchidism. In Case 2, an hCG stimulation test was performed, and the testosterone/dihydrotestosterone(DHT) ratio was found to be 17.4. The karyotype of all three patients was 46, XY. Whole-exome sequencing(WES) detected SRD5A2 gene variants in all cases, with genotypes being p. Gln6Ter/p.Arg227Gln, p. Gln6Ter/p.Pro250Ala, and p. Arg227Ter/p.His89Tyr, respectively. Parental validation confirmed compound heterozygous mutations in all cases. The novel variant p. Pro250Ala was identified and classified as a likely pathogenic variant according to ACMG guidelines. Protein modeling analysis indicated that this variant may affect the binding of 5α-reductase 2 to NADPH. In Case 1, male gender was chosen, and a laparoscopic bilateral orchiopexy was performed. In Case 2, female gender was chosen, and testectomy and vaginoplasty were performed. The gender selection for Case 3 has not been definitively determined yet.Conclusions:Abnormal external genitalia is a common phenotype of 5α-RD2. After hCG stimulation test, there is a significant increase in the testosterone/dihydrotestosterone(DHT) ratio, which indicates that Sanger sequencing of the SRD5A2 gene can be directly performed. 5α-RD2 exhibits significant clinical heterogeneity, and WES can facilitate the differential diagnosis of 46, XY disorders of sex development. The study also reported a novel variant, p. Pro250Ala, which enriches the SRD5A2 gene variant database.
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Objective:To explore the value of nursing checklist in posterior surgery for thoracolumbar fracture with general anesthesia under prone position.Methods:A retrospective case series study was conducted to analyze the clinical data of 106 patients with thoracolumbar fracture admitted to Sir Run Run Shaw Hospital，Zhejiang University School of Medicine from June 2018 to May 2020. There were 80 males and 26 females，with age range of 25-57 years［（48.6 ± 11.9）years］. Segments of injury were located at T 11 in 18 patients，at T 12 in 26，at L 1 in 21，at L 2 in 25 and at L 3 in 16. All patients were treated with thoracolumbar posterior screw fixation under general anesthesia. Of all，51 patients received conventional postural nursing from June 2018 to May 2019（control group），and 55 patients received prone position nursing scheme for general anesthesia on the basis of conventional postural nursing from June 2019 to May 2020（verification group）. The incidence of postoperative complications including stress injury，brachial plexus injury，ulnar nerve injury and ocular discomfort as well as length of hospital stay and patients’ satisfaction were compared between the two groups. Visual analogue scale（VAS）and Oswestry disability index（ODI）were also used to measures outcome at postoperative 3 months. Results:All patients were followed up for 8-12 months［（10.5±0.9）months］. Verification group and control group showed significant differences in the incidence of stress injury（4%∶29%），brachial plexus injury（4%∶16%）and ocular discomfort consisiting of tears（2%∶12%），foreign body sensation（0%∶4%）and dryness（4%∶16%）（ P < 0.05），not in ulnar nerve injury and blurred vision. Length of hospitalization in verification group was（7.0±1.3）days，significantly shorter than that in control group［（9.9±1.9）days］（ P < 0.05）. Satisfaction of patients in verification group and control group was 85%（47/55）and 69%（35/51），respectively（ P < 0.05）. At 3 months postoperatively，VAS in verification group［（1.9 ± 0.8）points］was significantly lower than that in control group［（3.5±1.1）points］（ P < 0.05），and ODI was similar between the two groups（ P > 0.05）. Conclusions For patients with thoracolumbar fracture treated by posterior surgery with general anaesthesia under prone position，nursing checklist helps reduce occurrence of the related complication，shorten length of hospital stay，improve patient satisfaction，reduce postoperative pain and promote rehabilitation.
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Objective:To investigate the efficacy of robot-assisted laparoscopic surgery in heminephrectomy in children.Methods:The clinical data of 54 children with heminephrectomy in the First Affiliated Hospital of Zhengzhou University from January 2017 to December 2019 was analyzed retrospectively, of which 42 cases underwent laparoscopic heminephrectomy (LH group) and 12 cases underwent robot-assisted laparoscopic heminephrectomy (RALH group). In LH group, there were 17 males and 25 females, with an average age of (71.74±34.57)months, 29 on the left and 13 on the right. In RALH group, there were 4 males and 8 females, with an average age of (76.83±37.33) months, 9 on the left and 3 on the right. There was no significant difference in age, sex composition and deformity side between the two groups ( P > 0.05). The clinical indexes such as operation time, intraoperative blood loss, postoperative drainage time, hospital stay and postoperative complications were compared between the two groups. Results:There were significant differences in operation time[(196.48±21.92)min vs.(171.50±24.91)min], intraoperative blood loss[(34.14±8.63)ml vs.(18.50±5.92)ml], postoperative drainage time[6.0(5.0, 7.0)d vs. 4.5(3.0, 6.5)d] and postoperative hospital stay[(8.93±1.70)d vs.(7.33±1.37)d] between LH and RALH groups ( P < 0.05). During the follow-up from 3 months to 2 years, the lower kidneys of the two groups developed well and the symptoms before operation such as urinary tract infection, intermittent voiding leakage and dysuria caused by ureterocele were gradually relieved and disappeared after operation. In the LH group, 2 cases were complicated with the symptoms as ureteral stump effusion, cyst formation and recurrent ureteral stump infection after operation, which were cured after reoperation. There was no case of ureteral stump effusion and cyst formation in the RALH group. Conclusions:Robot-assisted laparoscopic heminephrectomy in children has shorter intraoperative blood loss, postoperative drainage time and hospital stay, lower incidence of postoperative complications, and has better efficacy and safety.
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As the operation volume in hospitals is increasing year by year, surgical instruments are widely used, which pose a great challenge to the daily management of surgical instruments. The authors investigated the existing problems which occurred in the management of surgical instruments, and came out with instruments coding navigation index and specialized placement scheme for the operating room as solutions. The specific measures included dividing sterile items into specialized categories, setting cabinets respectively for specialized and general subjects, building equipment coding and identification, establishing surgical instruments navigation index and carrying out training program, to serve as reference for efficient and fine management of surgical instruments.
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OBJECTIVE@#To explore the genetic basis for a patient with Leydig cell hypoplasia.@*METHODS@#Whole exome sequencing was used to detect genetic variants in the patient. Suspect variants were verified by PCR and Sanger sequencing of the family members.@*RESULTS@#The patient was found to carry two novel variants, namely c.265A>T (p.Ile189Leu) and c.422T>C (p.Val141Ala), of the luteinizing hormone receptor gene (LHCGR), where were respectively inherited from her father and mother. Upon prenatal diagnosis, the fetus was found to be a heterozygous carrier of the c.265A>T (p.Ile189Leu) variant.@*CONCLUSION@#The compound heterozygous variants of c.265A>T (p.Ile189Leu) and c.422T>C (p.Val141Ala) of the LHCGR gene probably underlie the Leydig cell hypoplasia in the patient.
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Objective:To investigate the correlation between concomitant diabetes mellitus and clinical features in patients with COVID-19.Methods:Fifty patients with COVID-19 admitted to the Sixth People′s Hospital of Shenyang were divided into 2 groups with and without diabetes mellitus. Indexes such as hospitalization days, duration of positive virus-PCR result, secondary infection, duration of fever, rate of liver dysfunction, and rate of cardiac injury were compared between 2 groups.Results:The average hospitalization durations of diabetes group and control group were(24.0±6.8) and(18.4±5.9) days, respectively, and the duration of positive virus-PCR testing results were(16.0±4.5) and(12.3±4.4) days respectively, suggesting longer hospital stay and longer time for virus clearance in the diabetes group than those in the control group(both P<0.05). The rates of secondary infection, severe subtype, liver dysfunction and cardiac injury in the diabetes group increased, though without significant difference( P>0.05). Conclusion:Prolonged duration of positive virus-PCR result and average days of hospitalization in patients with COVID-19 may be associated with diabetes mellitus.
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Objective@#To establish the model of liver fibrosis based on noninvasive indices, and to investigate the diagnostic value of this model.@*Methods@#A total of 838 patients with chronic hepatitis B (CHB) who underwent liver biopsy in our hospital from March 2003 to October 2013 were selected, and the results of blood tests and B-ultrasound were collected. The correlation between these indices and liver fibrosis stage was analyzed. A logistic regression analysis was performed to establish a predictive model, and the value of this model was examined in validation group. The t-test, Mann-Whitney U non-parametric test, and chi-square test were used for data analysis. A Spearman rank correlation analysis was used for bivariate correlation analysis, and a dichotomous logistic stepwise regression analysis was used for multivariate analysis.@*Results@#In the model group, a model (FV) consisting of age, platelet count (PLT), γ-glutamyl transferase (GGT), albumin/globulin ratio (A/G), and splenic square area (SSA) was established. The areas under the receiver operating characteristic curve (AUROCs) of the model FV were 0.892, 0.910, and 0.915, respectively, in diagnosing significant liver fibrosis (S2-4), progressive liver fibrosis (S3-4), and early-stage liver cirrhosis (S4), with sensitivities of 77.6%, 83.7%, and 86.0%, respectively, specificities of 89.7%, 84.5%, and 83.7%, respectively, and accuracy of 82.1%, 84.2%, and 84.2%, respectively. There were no significant differences in AUROCs between the validation group and the model group (Z = 0.360, 0.885, and 0.046, all P > 0.05). In all patients, FV had significantly higher AUROCs in the diagnosis of liver fibrosis than FIB4 index and S index (Z = 4.569/3.423, 5.640/4.709, and 4.652/4.439, all P < 0.05). With < 0.374 and ≥ 0.577 as the cut-off values for the exclusion and diagnosis of significant liver fibrosis, 61.1% (512/838) of all patients could avoid liver biopsy, and the accuracy was 92.6% (474/512).@*Conclusion@#The noninvasive model based on age, PLT, GGT, A/G, and SSA can accurately predict liver fibrosis degree in patients with CHB with good reproducibility; therefore, it can be used for dynamic monitoring of liver fibrosis degree in clinical practice.
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Objective To analyze the relationship between clinical features and age of operation on children with hypospadias,and to explore and determine the factors for hypospadias associated with age at surgery.Methods Retrospective study was conducted in children with hypospadias undergoing operation at the First Affiliated Hospital of Zhengzhou University between January 2011 to December 2016.The demographics,the degree of hypospadias,complications,age at first urethroplasty and the other factors in patients were recorded,t-test was used to determine the factors associated with surgical timing and the difference was significant when P ＜ 0.05.Results A total of 1 051 cases were included in the study.Among these patients with hypospadias 268 cases (25.5％) were of mild cases,525 cases (50.0％) of moderate,and 258 cases(24.5％) of severe.Nine hundred and forty-six cases(90.0％) did not have complications,while 105 cases(10.0％) had complications.The median age at first urethroplasty was 5.3 years old and 66.22％ of them were operated after 3 years,and 4.09％ of them were after 18 years old.Insurance types,household income,race did not influence with surgical timing statistically (P ＞ 0.05).Multivariate analysis showed that the several factors were significantly associated with time of surgery:the severity of hypospadias (t =28.10,P =0.000),with or without complications (t =64.17,P =0.000),urban-rural gap (t =7.49,P =0.000),parental education level (t =36.90,P =0.000) and the age of receiving advice from pediatric surgeon (t =5.00,P =0.000).Conclusions The age of surgery in children with hypospadias were significantly affected by the severity of hypospadias,the presence of complications,differences between urban and rural areas,the degree of parental education,and the time of medical advice in the pediatric department of urology.,and the education of hypospadias knowledge for children's parents and related medical personnel at the grass-roots level will advance the age of surgery in children with hypospadias.
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Objective To analyze the relationship between clinical features and age of operation on children with hypospadias,and to explore and determine the factors for hypospadias associated with age at surgery.Methods Retrospective study was conducted in children with hypospadias undergoing operation at the First Affiliated Hospital of Zhengzhou University between January 2011 to December 2016.The demographics,the degree of hypospadias,complications,age at first urethroplasty and the other factors in patients were recorded,t-test was used to determine the factors associated with surgical timing and the difference was significant when P ＜ 0.05.Results A total of 1 051 cases were included in the study.Among these patients with hypospadias 268 cases (25.5％) were of mild cases,525 cases (50.0％) of moderate,and 258 cases(24.5％) of severe.Nine hundred and forty-six cases(90.0％) did not have complications,while 105 cases(10.0％) had complications.The median age at first urethroplasty was 5.3 years old and 66.22％ of them were operated after 3 years,and 4.09％ of them were after 18 years old.Insurance types,household income,race did not influence with surgical timing statistically (P ＞ 0.05).Multivariate analysis showed that the several factors were significantly associated with time of surgery:the severity of hypospadias (t =28.10,P =0.000),with or without complications (t =64.17,P =0.000),urban-rural gap (t =7.49,P =0.000),parental education level (t =36.90,P =0.000) and the age of receiving advice from pediatric surgeon (t =5.00,P =0.000).Conclusions The age of surgery in children with hypospadias were significantly affected by the severity of hypospadias,the presence of complications,differences between urban and rural areas,the degree of parental education,and the time of medical advice in the pediatric department of urology.,and the education of hypospadias knowledge for children's parents and related medical personnel at the grass-roots level will advance the age of surgery in children with hypospadias.
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Objective To explore the diagnosis, treatment and prognosis of testicular benign tumors in children.Methods The clinical data of 26 boys ( aged between 17 days to 12 years and average age was 2.5 years) with testicular benign tumors treated in our center between January 2008 and December 2015 were retrospectively analyzed.The tumors were on the left side in 17 cases, on the right side in 9 cases. Twenty patients presented with painless scrotal mass.3 with cryptorchidism, 2 cases with hydrocele, and 1 case with varicocele.These boys underwent ultrasound or CT examination, results the enlarged tests with space-occupying lesions in 20 cases,3 cases were presented as scrotal empty,3 cases were showed as cystic masses.Twenty-four boys had taken tumor marker detection,which including 3 cases of AFP rised, 2 cases of Neuron-specific enolase slightly higher, 1 case of Ferritin increased.26 patients were performed surgical treatment, 23 cases have taken testicular tumor resection, and 3 cases underwent orchiectomy because of abnormal morphology, according to the intraoperative findings and quick frozen pathological examination results.Results Postoperative pathological diagnosis showed of maturity teratoma in 14 cases, not maturity teratoma in 3 cases, gonadoblastoma in 3 cases, interstitial cell tumor in 2 cases, epidermoid cyst in 2 cases, fibrocellular tumor and testicular inflammatory granuloma in 1 case respectively.The 23 cases were followed up for 3-70 months.All respondents children were alive, and no complications were found such as residual tumor atrophy or tumor recurrence and metastasis.Conclusions Early diagnosis and treatment is the key to obtaining a good effect of testicular tumors. Detailed specialist examination, preoperative ultrasound, CT and determination of tumor markers are important ways to diagnose testicular cancer; rapid intraoperative frozen check may manifest nature of the tumors.For pediatric testicular benign tumor, testis-sparing surgery should be considered.
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Aldehyde dehydrogenase 2 (ALDH2), as one of the most important alcohol metabolizing enzymes, plays a significant role in the detoxification process of acetaldehyde which is a main carcinogenic product of alcoholic metabolism. Alteration in its genotypes (particularly at the site of rs671) is closely associated with a variety of tumors in drinkers. Recent advance in the research of the association of the ALDH2 gene rs671 polymorphisms with cancer susceptibility in drinkers is reviewed.
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Humanos , Consumo de Bebidas Alcoólicas , Genética , Aldeído Desidrogenase , Genética , Aldeído-Desidrogenase Mitocondrial , Predisposição Genética para Doença , Neoplasias , Genética , Polimorfismo GenéticoRESUMO
Objective To investigate the correlation between premature beats,atrioventricular block (AVB),heart rate variability (HRV) and age as well as gender among normal children.Methods One thousand five hundred and eighty-one cases of normal children from Beijing were divided into three age groups:3 to 6-year old,～ 10-year old and ～ 12-year old.All children were evaluated with both ECG and Holter to determine arrhythmia and HRV.The arrhythmia incidence and five time-domain values of HRV were analyzed according to age,gender and the existence of ventricular premature contractions.Results (1) Both ECG and 24-hour ECG monitoring (Holter) data showed that the average heart rate (HR),the slowest HR and maximum HR of normal children decreased with age,while PR interval and QTc interval increased with age.The correlation between age and the four indices were statistically significant (P ＜0.01),except the PR interval.(2) The positive rate of arrhythmia with Holter and ECG in normal children had statistically significant difference(x2 =4.810,P ＜ 0.05).(3) The incidence of premature contraction and Ⅰ ° AVB rised or fell with increasing age(P ＜ 0.05).Compared with 3 ～6-year age group,10-year and ～ 12-year old group had highly risk tendency in premature contraction(OR =1.31,2.04).(4) The five time-domain indices of HRV were increases with age.Each age group had statistically significant difference (P ＜ 0.01).(5) The five time-domain indexes of HRV in males were higher than those in females (P ＜0.01).(6) No significant differences were found with five time-domain indexes in children with or without ventricular premature contraction (P ＞ 0.05).Conclusions (1) HR of normal children decreases with age,but QTc interval increases with age.(2) The supraventricular premature contraction is the most common arrhythmia in normal children with Holter.(3) The occurrence of premature contractions increases with age,more obvious during the preadolescence.Ⅰ ° AVB occurs with age growth on a downward trend.Sex has no effect on the same arrhythmia.(4) HRV in normal children has age difference,suggesting that the pediatric cardiac autonomic nervous system (ANS) was immature.(5) The differences of HRV in sex were most significant during the preadolescence,which showed the developmental inconsistencies in cardiac ANS between male and female of preadolescence.(6) In the majority of normal children,the ventricular premature contractions were benign.
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BACKGROUND: How to solve the source of material substitute for repair of urethral dcfoct and improve the blood supply of new urethra has become a critical problem in the urethral repair and reconstruction.OBJECTIVE: To investigate the effects of endothelial progenitor cells (EPCs) on improving blood circulation in the new urethra following urethral defect repair.DESIGN,TIME AND SETTING: In vivo tissue engineering experiment,performed at the Laboratory of Deparanent of Surgery,First Affiliated Hospital of Zhengzhou University between January 2006 and February 2008.MATERIALS: Thirteen 3-5-month-old male Japanese rabbits were included for this study.Of them,one was used for preparation of bone marrow mononuclear cells,and the remaining twelve rabbits were divided into EPC repair group (n=8) and model group (n=4).METHODS: Under the aseptic condition,bone marrow was taken from the rabbit bilateral anterior superior lilac spine.Mononuclear cells isolated by Percoll method were induced in vitro using medium supplemented with vascular endothelial growth factors (VEGFs) and bovine basic fihroblast growth factors.When covering the whole bottom of culture flask,the mononuclear cells were digested with trypsin for passage.Animal models of urethral defect were developed in the two groups.One piece of aseptic fresh acellular human amnion (1 cm2) was sutured to each defected urethra using 0/6 DG suture for forming urethra.In the EPC repair group,1010/L passage 3 rabbit bone marrow mononuclear cell suspension was injected to two anastomotic stomas of the new urethra,0.1 mL for each stoma.The subcutaneous tissue was interruptedly sutured to the formed urethra using 0/6 DG suture.In addition,0.5 mL bone marrow mononuclear cell suspension was added to the region between each anastomotic stroma and newly repaired urethra.The same procedure was performed in the model group except that bone marrow mononuclear cell suspension was replaced by cell-free medium.At weeks 4 and 12 after surgery,paraffin sections of urethral tissue were made.MAIN OUTCOME MEASURES: Identification of cellular morphology; vascular regeneration of urethral tissue after urethral defect repair.RESULTS: After surgery,rabbit bone marrow mononuclear cells adhesively grew in vitro.Four days later,these cells exhibited rapid clone-like growth.Ten days later,they had typical slabstone-like change,presenting with strip-shaped and bundle-shaped growth.The phenotype of cultured cells gradually turned from CD34+/CD 133+/CD31+ to CD34+/CD 1337CD31+.At weeks 4 and 12 after surgery,the number of regenerate,d blood capillaries in the urethral tissue was significantly greater in the EPC repair group than in the model group (t=-9.034 to 5.985,P ＜ 0.01).CONCLUSION: Rabbit bone marrow mononuclear cells-differentiated EPCs can apparently improve local blood circulation in the urethral defect repair.