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Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.
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Objective To study the clinical features, diagnosis and treatment of torsion of testes in newborn. Method Neonates who were diagnosed with neonatal testicular torsion and admitted to Shenzhen Children's Hospital from March 2008 to July 2018 were studied. The clinical data such as days in age, time of onset, clinical manifestations, time of ultrasound examination, characteristics of ultrasound examination, surgery time, surgical types, postoperative conditions, pathological findings, and follow-up results were retrospectively analyzed. Result A total of 12 infants with torsion of testes were enrolled. The average onset time was 2.9 d, ranged from 1～10 d. The time of onset was within 24 h after birth in six infants. The median duration from onset to seeing a doctor was 3.5 d, ranged from 2 h to 28 d. First manifestations being reported grammer were scrotal swelling or mass, including 7 cases on the left side and 5 cases on the right side. Among them, 9 cases were associated with redness or cyanosis of the scrotum. Ultrasound was characterized by the disappearance or significant reduction of testicular parenchymal blood flow signal, and the sensitivity of ultrasound was 100％. The average time from admission to operation was (2.1±1.1) h. All the 12 infants had orchiectomy,after necrosis of unilateral testicle was confirmed. Eight of them underwent contralateral test icular fixation. The average operation time was 46 min. There was no wound bleeding or infection postoperatively, and the average hospital stay was 6.4 d. The pathological features were blurred residual contour of the seminiferous tubule (9 cases) or the disappearance of the seminiferous tubule structure (3 cases). After 3 to 24 months of follow-up, no contralateral testicular torsion or atrophy was found. Conclusion The rate of testicular necrosis in children with torsion of testes is high. The newborn with scrotal swelling should be diagnosed promptly with color Doppler ultrasound. If necessary, surgical exploration should be performed in time.
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Objective To investigate the clinical efficacy of 0.1％ mometasone furoate cream in the treatment of phimosis in children.Methods A prospective study was carried out over two years period on an outpatient which basis on two groups of patients with severe phimosis.598 children with severe phimosis (Kikiros classification 4-5) aged from 2 years old to 11 years old and 8 months were selected.311 cases in the observation group and 287 cases in the control group.The observation group applied a steroid cream the foreskin twice a day for 4 weeks,and the control group used local handling of the foreskin twice a day for 4 weeks.The effects of the two groups after 2 and 4 weeks of treatment were compared.Results 29 cases in the observation group and 47 cases in the control group were loss of follow up.In the steroids group which including 282 patients,68.8％ of patients (194 cases) showed a complete response (full retraction of the foreskin) to the therapy.The total efficiency rate of the 4 stage phimosis group is higher than the 5 grade phimosis group.Patients who had a history of balanoposthitis or urinary tract infection showed poorer improvement in preputial retraction.A total of 28 out of 240 patients (11.7％) in the control group showed a complete response to the therapy.The total efficiency rate of the observation group was significantly higher than the control group (x2 =173.121,P ＜ 0.01).There were 4 cases of discomfort in the observation group and 6 cases of foreskin injured in the control group.Conclusions Topical application of 0.1％ mometasone furoate cream in the treatment of severe phimosis in children is an effective,safe and simple non-invasive treatment with less adverse reactions.
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Objective To study the clinical features of complicated upper urinary tract infection in children,aiming to provide a reference for clinical diagnosis and treatment of the disease.Methods The clinical data of 68 cases with complicated upper urinary tract infection hospitalized at the Department of Urinary Surgery NO.1,Children's Hospital of Shenzhen between January 2013 and August 2015 were retrospectively analyzed.Results A total of 68 cases,in which 44 were male,24 were female,and repeated infections were found in 15 cases.Fever was the most common clinical manifestation(48 cases,70.59％),while frequent urination and odynuria were rare(9 cases,13.24％).A total of 57 strains had been cultured form the submitted specimens which were obtained from the 68 cases,including 41 strains of gram-negative bacteria,15 strains of gram-positive bacteria and 1 strain of fungus.Two different strains were cultured in 3 children.Fourteen strains of Escherichia coli had 11 extended spectrum beta lactamases (ESBLs)-positive strains.In the 11 strains of klebsiella pneumoniae,8 trains were ESBLs-positive.The drug resistant rates of gram-negative bacteria to Ampicillin and Cefuroxime sodium were both more than 90％.The sensitive rates to Piperacillin/Tazobactam was more than 90％.Thirty-one cases of complicated upper urinary tract infection were cured by administering Piperacillin/Tazobactam,while 15 cases were cured by changing Cefuroxime sodium to Piperacillin/Tazobactam according to the drug sensitivity results.Conclusions Clinical manifestations of complicated upper urinary tract infection are untypical,and fever is the most common symptom.Repeated infection is common.The gram-negative bacteria is the dominant pathogen causing the complicated upper urinary tract infection.ESBLs-positive bacteria accounts for high proportion.The drug resistance rate to penicillin and the first,second generation of the cephalosporin is high.The drug sensitive rate of piperacillin tazobactam is high,with good prognosis.
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BACKGROUND: The increasingly deepened studies have proved that moderate exercise training can effectively cope with the psychological and physiological stress, and improve the immunological functions of the body.OBJECTIVE: To observe the effect of exercise on the patients in pschoneuroimmunology.DESIGN: A randomized controlled observation.SETTING: Huaiyin Teachers College and the School of Physical Education of Yangzhou University.MATERIALS: The experiment was carried out at the Laboratory of Exercise Biochemistry of the School of Physical Education of Yangzhou University between September and November 2002. Fifty-four male SD rats were randomly divided into quiet control group (n=8), psychological stress group (n=8), stress plus 30-minute exercise group (n=7), stress plus 60-minute exercise group (n=8), 30-minute exercise group (n=7), 60-minute exercise group (n=8), shock group (n=8).METHODS: Quiet control group: There was neither exercise nor stress.Shock group: No exercise was involved, and shock was used as the source of stimulation in the stress group. Psychological stress group: The rats under stress did not receive shock, but just watched the process of shock in the shock group as bystanders in order to produce psychological stress through visual sense and hearing sense. Each stress lasted for 30 minutes,once every other day for 2 continuous weeks. 30-minute exercise group: In the first week, the rats adapted to training for 10 minutes every day, and then they swam without load for 30 minutes once a day for 8 weeks. 60minute exercise group: In the first week, the rats adapted to training for 30minutes every day, and then they swam without load for 60 minutes once a day for 8 weeks. Stress plus 30-minute exercise group: The rats received the same exercise as that of the 30-minute exercise group and the same stress as that applied to the psychological stress group. Stress plus 60-minute exercise group: The rats received the same exercise as that of the 60-minute exercise group and the same stress as that of the psychological stress group. The contents of corticosterone and interleukin-2 in serum were detected with radioimmunoassay, and the number of T lymphocyte subgroups was determined with the method of enzyme labeling.MAIN OUTCOME MEASURES: ① Effects of exercise of moderate and small intensity on serum corticosterone and interleukin-2 of stress rats. ②Effects of exercise of moderate and small intensity on T lymphocyte subgroups of CD3+, CD4+ and CD8+ in stressed rats.RESULTS: ①Effects of exercise of moderate and small intensity on serum corticosterone and interleukin-2 of stress rats: The serum levels of interleukin2 in stress rats were significantly lower than that of the rats in the control group, and the serum contents of corticosterone were significantly higher than that in the control group. The serum levels of interleukin-2 in the exercise group were significantly higher than that in the control group, and the serum contents of corticosterone were significantly higher than that in the control group. Compared with stress group, the level of interleukin-2 was significantly higher and the contents of corticosterone were markedly lower in the stress plus 30-minute exercise group and stress+60-minute exercise group. ② Effects of exercise of moderate and small intensity on T lymphocyte subgroups of CD3+, CD4+ and CD8+ in stress rats: Compared with the control group, the numbers of T lymphocyte subgroups were all significantly in the 30 and 60minute exercise groups. Compared with the stress group, the levels of CD3+and CD4+ in the stress plus 60-minute exercise group were significantly higher than thosein the stress group. The CD4+/CD8+ level had no significant difference between the stress plus 30-minute exercise group and stress group, but not lower than those in the stress group.CONCLUSION: Repeated psychological stress caused greater psychological response from rats, and inhibited the immnological function, and exercise of moderate and small intensity had better protective effect on the immunological function of rats under psychological stress, and the exercise of moderate intensity much more greatly improved the anti-stress ability of rats. The possible mechanism lies in the fact that exercise of moderate and small intensity produced better adaptability for hypothalamic-pitutiary-adrenal axia, changed the in vivo excretion of stress hormone, and then maintained the stability of immunological function.
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Objective To evaluate the bladder functions by urodynamic studies in diabetic patients with lower urinary tract symptoms (LUTS). Methods Urodynamic studies were performed in 42 diabetic patients (24 men and 18 women;age range,38-78 years).The diabetic history of the patients was from 1 month to 25 years. Results Of the 41 cases who underwent all items of urodynamic examination,38 cases (93%) had abnormal findings and 3 (7%),normal.The detrusor was underactive in 14 cases (34%) and areflexia in 10 (24%);BOO was found in 13 (32%).One female patient had stress urinary incontinence. Conclusions There is a high prevalence of bladder dysfunction in diabetic patients with LUTS.It is necessary to perform urodynamic studies in diabetic patients before initiation of therapy,especially in patients who are assigned to undergo bladder and urethral surgery.Preoperative urodynamic studies can contribute to the surgical success rate.
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Objective To evaluate pressure-flow study in assessment of dysuresia symptom in elderly male patients. Methods A total of 125 elderly male patients with dysuresia and prostatic enlargement underwent urodynamic examination.Their age ranged from 56 to 83 years with a mean of 68 years.If the patients urinated smoothly with satisfying urinary flow curve,the pressure-flow study would be performed on them.According to the results,the patients were classified as 3 groups:BOO,equivocal BOO and non-BOO groups.Their detrusor contractive function was classified as strong,normal,weak or very weak. Results Of the 125 patients undergoing urodynamic test,87 obtained definite pressure-flow study findings.Of the 87 patients,39 were with BOO,18 with equivocal BOO and 30 without BOO.In the BOO,equivocal BOO and non-BOO groups,detrusor pressure at maximum flow was (99.2?34.3) cmH 2O (1cmH 2O=0.098 kPa),(46.9?9.9)cmH 2O and (30.8?10.0)cmH 2O,respectively;intravesical opening pressure was (99.4?39.6) cmH 2O, (43.7?9.9) cmH 2O and (29.9?9.7) cmH 2O, respectively; minimum voiding detrusor pressure was (61.3?27.5) cmH 2O, (33.9?14.1)cmH 2O and (22.1?12.5)cmH 2O,respectively;and maximum detrusor pressure was (113.0?42.1)cmH 2O,(55.8?14.9)cmH 2O and (38.4?11.3)cmH 2O,respectively.The detrusor function was normal or strong in 74.4% (29/39) of patients with BOO,27.8%(5/18) of patients with equivocal BOO and 26.7% (8/30) of patients without BOO.All these parameters of the BOO group were higher than those of the equivocal BOO group and non-BOO group (both P