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.

Objective: To study the clinicopathologic characteristics, immunophenotype, pathologic diagnosis and differential diagnosis of myxoid adrenocortical adenomas. Methods: The clinical data, histological features and immunohistochemical results of 4 cases of myxoid adrenocortical adenomas were analyzed, which were collected from January 2014 to December 2016 at Guangdong General Hospital, with review of literature. Results: Four cases of myxoid adrenocortical adenomas were presented. The patients ages ranged from 26 to 45 years (mean =35 years). Microscopically, it showed a typical morphology, characterized by small-sized tumor cell cords or pseudo-glands embedded in an abundant extracellular myxoid matrix. Immunohistochemical staining showed tumor cells were strongly positive for Melan A, vimentin and focally for α-inhibin, one case showed strong and diffuse positivity for CAM5.2, and two cases showed diffuse positivity for synaptophysin, while negative for CgA, S-100 protein, epithelial antigen, CK7, CK20 and CKpan. Conclusions Myxoid adrenocortical adenomas are extremely rare, which may cause confusion with metastatic well-differentiated neuroendocrine tumours, sex cord-stromal tumoursor metanephric adenoma. Recognition of this entity would be beneficial for pathologists to avoid misdiagnosis, and unnecessary treatment.

Objective To analyze the diagnosis and therapy of adult-onset type Ⅱ citrullinemia (CTLN2) and compare the clinical data before and after treatment.Methods The clinical data of one patient of CTLN2 from Department of Neurology , the First Affiliated Hospital, Sun Yat-sen University on 9th December 2015 were collected.Treatment plan was formulated and adjusted by long-term follow-up.Results The patient was a 23-year-old male, complaining of recurrent mental and behavior disorders.MMSE score was 16.Blood transaminase, ammonia and citrulline were elevated and abdomen CT showed fatty liver disease.Cranial MRI showed encephaledema and SLC 25A13 gene analysis showed 851-854delGTAT homozygous mutation.Arginine was given for treatment and reduced gradually.In two years of follow-up, the patient had no longer suffered from mental and behavior disorders.Blood transaminase and ammonia remained normal.Conclusions The diagnosis of CTLN2 should be considered when a patient suffers from recurrent mental and behavior disorders , elevated blood transaminase and ammonia.Arginine along with high protein, high fat and low carbohydrates diet can improve prognosis effectively.

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 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.

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.

To explore the feasibility and efficacy of artificial neural network for differentiating high-grade glioma and low-grade glioma using image information.
 Methods: A total of 130 glioma patients with confirmed pathological diagnosis were selected retrospectively from 2012 to 2017. Forty one imaging features were extracted from each subjects based on 2-dimension magnetic resonance T1 weighted imaging with contrast-enhancement. An artificial neural network model was created and optimized according to the performance of feature selection. The training dataset was randomly selected half of the whole dataset, and the other half dataset was used to verify the performance of the neural network for glioma grading. The training-verification process was repeated for 100 times and the performance was averaged.
 Results: A total of 5 imaging features were selected as the ultimate input features for the neural network. The mean accuracy of the neural network for glioma grading was 90.32%, with a mean sensitivity at 87.86% and a mean specificity at 92.49%. The area under the curve of receiver operating characteristic curve was 0.9486.
 Conclusion: As a technique of artificial intelligence, neural network can reach a relatively high accuracy for the grading of glioma and provide a non-invasive and promising computer-aided diagnostic process for the pre-operative grading of glioma.
Brain Neoplasms ; diagnostic imaging ; pathology ; Glioma ; diagnostic imaging ; pathology ; Humans ; Magnetic Resonance Imaging ; Neoplasm Grading ; Neural Networks, Computer ; ROC Curve ; Retrospective Studies ; Sensitivity and Specificity