【Objective】 To investigate the urinary tract characteristics of diabetes insipidus (DI) complicated with upper urinary tract dilatation (UUTD), and to summarize the treatment experience. 【Methods】 The clinical data of 28 DI patients treated in China Rehabilitation Research Center were retrospectively analyzed with UUTD and all urinary tract dysfunction (AUTD) systems to evaluate the urinary tract characteristics. The relevant laboratory results, video-urodynamic recordings (VUDS), UUTD, neurophysiologic tests, treatment regimens and follow-up data were summarized. 【Results】 There were 21 DI cases (75.0%) and 7 cases of DI with neurogenic bladder (NB). Polyuria, polydipsia, urine specific gravity, urine osmotic pressure and water deprivation vasopressin test had diagnostic value for DI. In addition, detailed history, neurological examination, VUDS and neurophysiologic tests had significant diagnostic value for DI with NB. Enterocystoplasty was recommended for 2 DI with NB patients with poor bladder capacity, compliance and renal impairment. For the remaining 26 patients, individualized medication combined with bladder neck incision and appropriate bladder management, including intermittent catheterization, catheter indwelling and regular voiding, achieved satisfactory results. High serum creatinine decreased from (269.8±105.7)μmol/L to (164.4±90.2)μmol/L in 13 patients with abnormal renal function. Forty-eight dilated ureters showed significant improvement in the UUTD grade, and the median grade decreased from 3 to 2. 【Conclusion】 Bladder distension, trabeculation and decreased or absent sensations were common features for DI patients with UUTD. Individualized therapy by medication combined with appropriate bladder management can improve the dilatation and renal function.

Objective:To assess the clinicopathological features, immunophenotype, molecular characteristics and differential diagnosis of primary cardiac synovial sarcoma (PCSS).Methods:Five cases of PCSS were collected at Guangdong Provincial People′s Hospital from 2008 to 2023, and their clinicopathological features were summarized. Immunohistochemical staining, fluorescence in-situ hybridization (FISH) and next-generation sequencing (NGS) were performed, and relevant literatures were reviewed.Results:The cases were found in four males and one female, ranging in ages from 16 to 51 years (median 30 years). Two cases were located in the pericardium, two in the right ventricle, and one in the left ventricle. Follow-up data were available in four cases. All the four patients died of disease at 3, 7, 13 and 26 months, respectively, after diagnosis. The tumor maximum diameter ranged from 6.0 to 14.0 cm in (mean 10.0 cm). Microscopically, three cases were monophasic and two cases were biphasic. Immunohistochemically, all cases were immunoreactive for EMA, vimentin, bcl-2 and CD56. The tumor cells were variably positive for pan-cytokeratin, SS18-SSX, SOX2, TLE1, CD99, synaptophysin, calretinin and calponin. FISH showed the presence of SS18 rearrangement in all the cases. NGS detected SS18-SSX gene fusion in three cases (SS18-SSX1 in one and SS18-SSX2 in two).Conclusions:PCSS is an exceedingly rare neoplasm, and should be distinguished from other various malignant epithelial and mesenchymal tumors. The clinical history, histopathological and immunohistochemical features, and molecular findings are all essential to the definitive diagnosis of PCSS.

A case of glycogen accumulation disease type Ⅱ was reported.The patient was a 26-year-old male who presented with skeletal muscle atrophy and weakness of limbs and myocardial involvement in his youth.Laboratory and pathological data including creatine kinase,electromyography,nuclear magnetic resonance of lower limbs and muscle pathological biopsy suggested myositis changes.Enzymatic examination of peripheral blood lymphocyte filter paper showed deficiency of acid alpha glucosidase(GAA)activity.Genetic testing of GAA gene confirmed glycogen accumulation disease type Ⅱ.Genetic variation c-32-13T>G and c.1551+2T>G came from mother and father,respectively.Analyzing the characteristics of the patient could recognize and accumulate more data about glycogen accumulation disease type Ⅱ,in order to increase the understanding of the rare autosomal recessive genetic disease.

Objective:To evaluate the efficacy and safety of belimumab combined with standard regimen in the treatment of active lupus nephritis (LN).Methods:It was a single-center, pre - and post-control retrospective study. The Data of active LN patients treated with belimumab combined with standard regimen in the Department of Nephrology, the First Affiliated Hospital of Sun Yat-sen University from June 1, 2020 to June 30, 2022 were collected for analyzing the renal response rate and adverse reactions after belimumab treatment.Results:A total of 17 patients were included, including 14 females (82.35%). The age of the first medication was (26.06±2.64) years old, the median time of illness before the use of belimumab was 24.00 (8.50, 48.50) months, and the recurrence times before the use of belimumab was (1.24±1.03) times. All the 17 patients underwent renal biopsy. The main pathological types were type IV in 11 cases (11/17), type Ⅲ+V in 2 cases (2/17), type IV+V in 3 cases (3/17), and type V in 1 case (1/17). The dose of glucocorticoids was (22.95±8.30) mg/d in 1 year before belimumab administration. In 12 patients with LN who completed 24 weeks of belimumab treatment plan, the 24-hour urinary protein showed a downward trend, and there was a statistically significant difference compared with the baseline at 24 week [0.49 (0.15, 2.19) g vs. 2.83 (1.14, 4.11) g, Z=-2.100, P=0.036]. Compared with the baseline, serum albumin at 24 week increased by 29.36%, with statistically significant difference [(34.50±3.34) g/L vs. (26.67±5.75) g/L, t=-3.840, P=0.030]. The systemic lupus erythematosus disease activity index-2K score continued to decline, with statistically significant difference compared with baseline at 24 week (5.00±3.02 vs. 12.00±2.82, t=6.163, P<0.001). The lymphocyte count increased, and the difference was statistically significant compared with the baseline at 24 week [0.72(0.28, 2.39)×10 9/L vs. 0.30(0.19,0.34)×10 9/L, Z=-2.073, P=0.038]. There was a statistically significant difference between the glucocorticoids dosage at 24 week and the average glucocorticoids dosage 1 year before treatment [(11.25±6.35) mg/d vs. (22.60±9.75) mg/d, t=4.225, P=0.003]. After observation of belimumab for (38.13±22.93) weeks, patients had a complete response rate of 64.71% (11/17), a partial response rate of 17.65% (3/17), and an overall response rate of 82.35% (14/17). Relapse occurred in 1 case.No infusion-related reactions occurred in 17 patients. During the treatment, a total of 5 adverse events occurred, including 2 cases of pulmonary infection, 1 case each of sepsis, upper respiratory tract infection, and cytomegalovirus infection, which all improved after treatment and the subsequent treatment was not affected. Conclusion:Belimumab combined with standard regimen can improve the response rate of LN, reduce the recurrence rate, reduce the dosage of glucocorticoids, and control the overall adverse events with good prognosis.

Sialidosis is a rare autosomal recessive disorder which is classified into type Ⅰ and Ⅱ according to the age of onset and severity of the disease.Type I,also known as mucolipidosis,is often manifested as myoclonus,ataxia,general tonic clonic seizure,and bilateral cherry-red spots in eye examination.Four cases of type Ⅰ sialidosis were reported in order to improve the diagnosis and treatment of this disease.Patients were mainly manifested as myoclonus and ataxia.Whole exon gene sequencing of the four patients all showed the mutation c.544A＞G in the NEU1 gene.Meanwhile,the new mutation c.596G＞A carried was found in case 2 and its pathogenicity was also analyzed.Finally,we summarized the clinical characteristics of type Ⅰ patients in China,noting that most patients develop all the core symptoms as the disease progresses.

Objective:Evaluate the influence of different pressure transmission media of urodynamic water filled catheter(WFC) and air charged catheter(ACC) on the pressure measurement results to determine whether they can be used interchangeably.Methods:The results of 2 147 patients who underwent urodynamic examination in our hospital from January 2014 to December 2020 were retrospectively analyzed. A total of 2 538 times of bladder manometry data were obtained, including 1 299 times in WFC group, 856 times in male and 443 times in female, aged 37(24, 50)years, course of disease 1.2(0.4, 5.0) years, 1 130 times in neurogenic bladder(NB)and 169 times in non-neurogenic bladder(N-NB); In ACC group, there were 1 239 times, 773 times for male and 466 times for female, with age of 37(24, 55)years, course of disease of 1.5(0.5, 6.0)years, 1 040 times for Nb and 199 times for N-NB. There was no significant difference in baseline data of general clinical data between the two groups. The intravesical pressure(Pves), intra-abdominal pressure(Pabd)and detrusor pressure(Pdet) of WFC and ACC patients during filling and urination were analyzed. For traumatic spinal cord injury(SCI) and idiopathic patients, the two sets of pressure measurement data were analyzed separately. Nonparametric test and Chi-square test were used to compare the Pves, Pabd, and Pdet recorded by the two manometry catheters before, at the end and after urination, the maximum detrusor pressure at DO(Pdet.max-DO), and the maximum detrusor pressure during spontaneous urination (Pdet. max) and the detrusor pressure (Pdet.Qmax) corresponding to the maximum urine flow rate, the maximum urethral pressure (MUP) and the maximum urethral closure pressure (MUCP) during resting urethral pressure profile, and the initial cough Pdet signal pattern (typeⅠ, typeⅡand typeⅢ).Results:Regardless of the cause, the Pabd values measured by ACC were significantly higher than WFC before filling, end filling and after voiding[18(10, 26)cmH 2O vs.15(11, 21)cmH 2O; 23(16, 31)cmH 2O vs. 20(14, 26)cmH 2O; 23(15, 31)cmH 2O vs.18(12, 24)cmH 2O], and Pdet were significantly lower than WFC[0(0, 0) cmH 2O vs. 0(0, 1)cmH 2O; 5(1, 13)cmH 2O vs. 9(4, 17)cmH 2O; 6(1, 12)cmH 2O vs. 7(3, 14)cmH 2O]. In the initial cough state, Pves and Pabd increase value were also significantly lower than that of WFC [22(12, 36)cmH 2O vs. 23(14, 38)cmH 2O; 20(10, 33)cmH 2O vs. 21(12, 36)cmH 2O]. The Pves measured by ACC was also significantly higher than WFC before filling and after voiding[18(10, 27)cmH 2O vs. 16(11, 21)cmH 2O; 30(22, 39)cmH 2O vs. 26(20, 36)cmH 2O]. Maximum urethral pressure (MUP) and maximum urethral closure pressure (MUCP) measured by ACC were significantly higher than WFC [91(69, 118)cmH 2O vs.81(64, 106)cmH 2O; 77(55, 103)cmH 2O vs. 68(48, 91)cmH 2O], and there were no significant differences in Pdet.max-DO、Pdet.max和Pdet.Qmax. For patients with traumatic SCI, the Pves measured by ACC was significantly higher than WFC before filling[15(10, 24)cmH 2O vs. 14(10, 20)cmH 2O], and only MUP was significantly higher than WFC in the measurement of urethral pressure[95(71, 119)cmH 2O vs. 85(65, 112)cmH 2O], and there were no significant differences in Pdet.max-DO, Pdet.max, Pdet.Qmax and MUCP. For idiopathic patients, Pves measured by ACC before filling and after urination were significantly higher than WFC[25(20, 29)cmH 2O vs. 18(11, 23)cmH 2O; 35(29, 44)cmH 2O vs. 28(20, 38)cmH 2O], while Pdet.max-DO, Pdet.max, Pdet.Q max, MUP and MUCP were not significantly different in different pressure measurement systems. For the comparison of the initial cough Pdet signal pattern, ACC is easier to detect type Ⅰ, and WFC is easier to detect type Ⅱ and type Ⅲ. Conclusions:Compared with WFC, ACC measured higher Pves and Pabd and lower Pdet in resting state, and lower Pves and Pabd in initial cough state. The pressure values and signal pattern measured by WFC and ACC are not completely consistent, so they cannot be used interchangeably.

Objective: To summarize the clinical characteristics of a patient with cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome, followed by relative literature review. Methods: The medical history, physical examination and results of relative auxiliary examinations were collected from a CAPOS syndrome patient, who was definitely diagnosed by gene detection. Results: The patient was a 20-year-old male, complaining of poor coordination for 19 years, impaired vision for 15 years and hearing loss for 13 years. When he was eleven months old, weakness of four limbs happened after diarrhea but recovered spontaneously a few days later. Then his poor coordination was discovered. His vision has decreased progressively since the age of five and he began to suffer from bilateral hearing loss after fever at the age of seven. Anti-infectious and immunoregulatory treatment was ineffective at that time. Physical examination showed that bilateral visual acuity decreased. Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected. Obvious shaking was observed with closed eyes and toes together. Finger-to-nose, finger tracking, heel-knee-tibia and alternate motion tests were slightly inaccurate. Deep tendon reflexes disappeared and no pes cavus was observed. Pure tone audiometry revealed bilateral sensorineural hearing loss. Cranial magnetic resonance imaging indicated bilateral optic atrophy. ATP1A3 gene detection in the patient showed c. 2452G>A (p. Glu818Lys) heterozygous mutation while his parents were detected no such mutation in the same locus. Conclusions As for young patients who suffer from acute cerebellar ataxia after fever, disappeared tendon reflexes, atrophy of optic nerves or sensorineural hearing loss, they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless. Positive family history and ATP1A3 gene mutation would be beneficial to definite diagnosis.

The 2019 novel coronavirus (2019-nCoV) outbreak in Wuhan, Hubei Province, China in 2019 led to large numbers of peoplebeing infected and developing atypical pneumonia (coronavirus disease 2019, COVID-19). Typical imaging manifestations ofpatients infected with 2019-nCoV has been reported, but we encountered an atypical radiological manifestation on baselinecomputed tomography (CT) images in three patients from Wuhan, China infected with the 2019-nCoV. Surprisingly, the onlysimilar CT finding was a solitary sub-centimeter ground-glass nodule adjacent to bronchovascular bundles, which could beeasily overlooked. In addition, the follow-up images in these patients showed how COVID-19 pneumonia evolved from thesesmall nodules. The radiologic manifestation of the three cases will expand contemporary understanding of COVID-19.

Objective:To assess the bacterial profiles and antimicrobial susceptibility patterns in uropathogens, and help to inform the empiric treatment decisions for urinary tract infection in outpatient settings.Methods:A single institutional retrospective analysis was performed on positive urine cultures from outpatient settings between January 1998 and December 2018. To analyze changes over time, trends analysis were undertaken on bacterial profiles, antimicrobial susceptibility and resistance.Results:A total of 1.172 pathogenic bacteria were isolated after exclusion of duplicate strains originated from the same patient, including 991(84.6%) Gram-negative bacterial strains and 181(15.4%) Gram-positive strains. The most common Gram-negative uropathogens were Escherichia coli (60.8%) and Klebsiella pneumonia (8.1%). Enterococcus faecalis (4.6%) was the predominant Gram-positive strain. The detection rate of Escherichia coli increased significantly, from 50.8% to 63.2% ( χ2=7.978, P=0.046), and no significant difference was observed in the distribution of major uropathogenic bacteria over the 20 years (all P>0.05). The proportion of extended-spectrum β-lactamase (ESBLs) producing strains increased significantly across the 20 years ( P<0.05). The resistance rates of Escherichia coli to amoxicillin and clavulanate potassium, aztreonam, ceftazidime, ciprofloxacin and sulbactam + cefoperazone increased significantly (all P<0.05). All the isolates sustained high susceptibility to tazobactam + piperacillin, amikacin, imipenem and nitrofurantoin (95.0%, 95.7%, 97.9% and 91.1%). Similar to those of Escherichia coli, Klebsiella pneumoniae remained a high and stable sensitivity to tazobactam+piperacillin, amikacin and imipenem during the 20 years (79.1%, 88.0% and 80.3%). However, the proportion of ESBLs producing strains increased significantly ( P<0.05). Among Gram-positive bacteria isolates, the sensitivity rates of Enterococcus faecalis to ampicillin, nitrofurantoin and penicillin G were 100.0%. No vancomycin resistant strain was detected in Gram-positive bacteria. Conclusions:From 1998 to 2018, Escherichia coli and Klebsiella pneumoniae are the most common Gram-negative bacteria uropathogens obtained in outpatient settings. Significant increases of resistance to some antimicrobial agents such as second- and third-generation cephalosporins and fluoroquinolones are observed during the 20 years and high susceptibilities to tazobactam+piperacillin, amikacin, imipenem and nitrofurantoin sustain over time. Local treatment strategies of urinary tract infections on outpatient basis should be made according to epidemiology of drug resistance and individual characteristics to control the spread and curb the prevalence of drug resistant.

Objective To evaluate the clinical manifestations, metal metabolism, imaging characteristics and treatment response in patients with delayed Wilson disease (WD). Methods Patients with untreated WD (40 with delayed onset and 40 with non?delayed onset) were enrolled. Twenty healthy people were included as normal controls. All patients were evaluated with modified Young scale neural symptom scores, grade of Child liver function and mental symptoms rating scale, magnetic resonance imaging (MRI) scan, magnetic sensitive imaging (susceptibility weighted imaging, SWI), metal metabolism. Corrected phase (CP) was measured at SWI. After 2 week treatment, neurologic symptoms, liver function, and metal metabolism were reviewed. Results The total score of neurological symptoms in WD patients with delayed onset was lower than that of non?delayed onset (13.00 ± 6.87 vs. 21.13 ± 5.53, P=0.033). The scores of SCL?90 and HAMA depression scales in patients with delayed onset were lower than those of non?delayed onset. On T2 weighted imaging, areas including substantia nigra and thalamus, the caudate nucleus, globus pallidus, putamen presented high signal rate in patients with delated onset than those with non?delayed (P=0.022, 0.037, 0.022, 0.037, 0.029 respectively). The SWI CP values of cangbai sphere and shell nucleus in patients with delayed onset were lower than those with non?delayed onset. Patients with delayed onset had higher urinary copper than those with non?delayed onset before and after treatment (P=0.040, 0.036). After treatment, the score of abnormal tremor and gait in patients with delayed onset was decreased (P=0.037, 0.044), while as the occurrence of neurological symptoms was increased by 10%, and the liver function level in patients with delayed WD was decreased in 3 cases. Conclusions The brain of WD patients with delayed onset is mainly composed of metal deposits, however the cell damage is not apparent. Clinical symptoms are characterized by significant liver injury, but relatively mild neurological and psychiatric symptoms. Patients with delayed WD have higher urinary copper excretion than those with non?delayed WD. Chelating agents improves the neurological symptoms in patients with delayed onset.