Objective:To report a Charcot-Marie-Tooth disease type 2 (CMT2) patient with SORD gene mutations, aiming to enhance the understanding of SORD gene-associated peripheral neuropathy. Methods:A CMT2 patient with SORD gene mutations was identified through whole exome sequencing in the Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January 2024, and the patients′ clinical features were elaborated in detail. 31-Phosphorus magnetic resonance spectroscopy ( 31P-MRS) was employed to assess the phosphorus profile of the limbs, and real-time quantitative reverse transcription polymerase chain reaction was utilized to detect peripheral blood SORD gene mRNA expression levels in the patient, the family members, and the normal control. Additionally, the genetic and clinical characteristics of SORD gene mutation-related CMT2 and distal hereditary motor neuropathy (dHMN) were reviewed by searching the CNKI and PubMed databases. Results:The male CMT2 patient was 15 years old, presented with early-onset lower limb muscle weakness and atrophy, hypoesthesia, reduced tendon reflexes, and flat feet. 31P-MRS examination indicated that the pH of the patient′s leg was lower than that of the upper limb. Whole exome sequencing showed the patient carrying complex heterozygous mutations c.757delG (p.Ala253GlnfsTer27) and c.218C>T (P.Ser73Leu) in the SORD gene. The mRNA expression of the SORD gene of the patient′s mother [0.623(0.614, 0.645)] was lower than that of the patient′s father [0.961(0.888,1.020), H=13.330, P=0.007] and normal people [1.001(0.917, 1.092), H=14.830, P=0.002]. Through literature review, it is found that 31 SORD gene mutations have been reported worldwide, among which c.757delG (p.Ala253GlnfsTer27) was found to be a hotspot mutation, and all patients exhibited an autosomal recessive inheritance pattern. Conclusions:A patient with CMT2 caused by a compound heterozygous mutation c.757delG/c.218C>T in the SORD gene, with the main clinical symptoms of bilateral lower limb weakness, atrophy, sensory disturbance and reduced tendon reflexes is reported. Furthermore, 31P-MRS of the extremities is anticipated to both early and sensitively detect muscle lesions in patients with hereditary peripheral neuropathy.

Objective:To report a Charcot-Marie-Tooth disease type 2 (CMT2) patient with SORD gene mutations, aiming to enhance the understanding of SORD gene-associated peripheral neuropathy. Methods:A CMT2 patient with SORD gene mutations was identified through whole exome sequencing in the Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January 2024, and the patients′ clinical features were elaborated in detail. 31-Phosphorus magnetic resonance spectroscopy ( 31P-MRS) was employed to assess the phosphorus profile of the limbs, and real-time quantitative reverse transcription polymerase chain reaction was utilized to detect peripheral blood SORD gene mRNA expression levels in the patient, the family members, and the normal control. Additionally, the genetic and clinical characteristics of SORD gene mutation-related CMT2 and distal hereditary motor neuropathy (dHMN) were reviewed by searching the CNKI and PubMed databases. Results:The male CMT2 patient was 15 years old, presented with early-onset lower limb muscle weakness and atrophy, hypoesthesia, reduced tendon reflexes, and flat feet. 31P-MRS examination indicated that the pH of the patient′s leg was lower than that of the upper limb. Whole exome sequencing showed the patient carrying complex heterozygous mutations c.757delG (p.Ala253GlnfsTer27) and c.218C>T (P.Ser73Leu) in the SORD gene. The mRNA expression of the SORD gene of the patient′s mother [0.623(0.614, 0.645)] was lower than that of the patient′s father [0.961(0.888,1.020), H=13.330, P=0.007] and normal people [1.001(0.917, 1.092), H=14.830, P=0.002]. Through literature review, it is found that 31 SORD gene mutations have been reported worldwide, among which c.757delG (p.Ala253GlnfsTer27) was found to be a hotspot mutation, and all patients exhibited an autosomal recessive inheritance pattern. Conclusions:A patient with CMT2 caused by a compound heterozygous mutation c.757delG/c.218C>T in the SORD gene, with the main clinical symptoms of bilateral lower limb weakness, atrophy, sensory disturbance and reduced tendon reflexes is reported. Furthermore, 31P-MRS of the extremities is anticipated to both early and sensitively detect muscle lesions in patients with hereditary peripheral neuropathy.

Objective:To evaluate the relationship between protein kinase C-delta (PKCδ) and pyroptosis during ventilator-induced lung injury (VILI) in rats.Methods:Thirty-six clean-grade healthy adult male Sprague-Dawley rats, weighing 200-250 g, were divided into 3 groups ( n=12 each) using a random number table method: control group (group C), group VILI, and VILI plus specific PKCδ inhibitor KAI 9803 group (group K). Phosphate buffer solution 200 μl was injected through the tracheal tube after intubation in group VILI, and KAI 9803 200 μg/kg was given instead in group K. The patients were mechanically ventilated (tidal volume 40 ml/kg, respiratory rate 60 breaths/min, inspiratory/expiratory ratio 1∶2, fraction of inspired oxygen 21%, positive end-expiratory pressure 0) for 4 h. Blood samples were taken from the femoral artery at the end of mechanical ventilation for blood gas analysis, and PaO 2 was recorded.Animals were sacrificed at the end of ventilation, lung tissues were removed, and bronchoalveolar lavage fluid (BALF) was prepared.The total protein concentrations in BALF were measured by coomassie blue staining, and concentrations of interleukin-18 (IL-18) and IL-1β in BALF by enzyme-linked immunosorbent assay.Lung tissues were obtained for microscopic examination of the pathological changes which were scored and for determination of wet/dry weight ratio (W/D ratio) and expression of PKCδ and gasdermin D N terminal fragment (GSDMD-N) protein and mRNA (by Western blot or by quantitative real-time polymerase chain reaction). Results:Compared with group C, the lung injury score, W/D ratio, and concentrations of total protein, IL-18 and IL-1β in BALF were significantly increased, PaO 2 was decreased, and the expression of PKCδ and GSDMD-N protein and mRNA was up-regulated in VILI and K groups ( P<0.01). Compared with group VILI, the lung injury score, W/D ratio, and concentrations of total protein, IL-18 and IL-1β in BALF were significantly decreased, PaO 2 was increased, and the expression of PKCδ and GSDMD-N protein and mRNA was down-regulated in group K ( P<0.05 or 0.01). Conclusion:PKCδ can mediates the pathophysiological process of VILI in which pyrolysis is involved in rats.

Objective:To evaluate the effect of rapamycin on the activity of NOD-like receptor C4 (NLRC4) inflammasomes in the rats with ventilator-induced lung injury (VILI).Methods:Thirty-six healthy clean-grade male Sprague-Dawley rats, aged 6-8 weeks, weighing 200-250 g, were divided into 3 groups ( n=12 each) using a random number table method: control group (group C), VILI group and rapamycin group (group RAPA). In group RAPA, rapamycin 4 mg·kg -1·d -1 was intraperitoneally injected once a day for 3 consecutive days before establishing the model, while the equal volume of normal saline was given instead in group C and group VILI.The patients were mechanically ventilated for 4 h (tidal volume 20 ml/kg, respiratory rate 80 breaths/min, inspiratory/expiratory ratio 1∶1, fraction of inspired oxygen 21%) in VILI and RAPA groups.Blood samples were collected from the femoral artery after the end of ventilation for blood gas analysis and for determination of serum interleukin-1β (IL-1β) and interleukin-18 (IL-18) concentrations (by enzyme-linked immunosorbent assay), and PaO 2 was recorded.The bronchoalveolar lavage fluid (BALF) was collected for determination of the neutrophil count and IL-1β and IL-18 concentrations by enzyme-linked immunosorbent assay.The lung tissues were obtained for examination of the pathological changes (under the light microscope) after HE staining which were scored and for determination of wet to dry weight (W/D) ratio, and expression of mammalian target of rapamycin (mTOR), NLRC4 and caspase-1 (by Western blot) and expression of NLRC4 mRNA (by real-time polymerase chain reaction). Results:Compared with group C, the W/D ratio, lung injury score, neutrophil counts in BALF, and concentrations of IL-1β and IL-18 in serum and BALF were significantly increased, PaO 2 was decreased, and the expression of mTOR, NLRC4, caspase-1 and NLRC4 mRNA was up-regulated in group VILI and group RAPA ( P<0.01). Compared with group VILI, the W/D ratio, lung injury score, neutrophil counts in BALF, and concentrations of IL-1β and IL-18 in serum and BALF were significantly decreased, PaO 2 was increased, and the expression of mTOR, NLRC4, caspase-1 and NLRC4 mRNA was down-regulated in group RAPA ( P<0.05). Conclusion:The mechanism by which rapamycin alleviates VILI may be related to inhibiting activation of mTOR signaling pathway and inhibiting the activity of NLRC4 inflammasomes in rats.

Objective To assess the ability of ABCD3-Ⅰ score in evaluating the early risk of cerebral infarction after transient ischemic attack ( TIA ).Methods A total of 107 TIA patients were evaluated according to ABCD2,ABCD3 and ABCD3-Ⅰ criteria.The occurrences of cerebral infarction within 2 days and 7 days were observed.Results The AUCRoc of ABCD2,ABCD3 and ABCD3-Ⅰ were 0.61,0.66 and 0.71 in predicting the risk of cerebral infarction within 2 days,and were 0.62,0.68 and 0.74 in predicting within 7 days,respectively.Among 107 patients with TIA,13 evolved into cerebral infarction within 2 days,accounting for 12.1％,and 24 within 7 days,accounting for 22.4％.According to ABCD3-Ⅰ criteria,17 patients were of low risk scored 0-3 ; 54 patients were of medium risk scored 4-7 ; and 36 patients were of high risk scored 8-13.The different incidence of cerebral infarction after TIA was related to ABCD3-Ⅰ score:the higher the score was,the higher incidence was.Except for age factor,every score item of ABCD3-Ⅰ display obvious influence to the occurrence of cerebral infarction within 2 days and 7 days after TIA (P ＜ 0.05 ).Conclusion ABCD3-Ⅰ criteria could more effectively predict the occurrence of early risk of cerebral infarction after TIA,which could be used in regular clinical practice for assistance in TIA risk stratification and treatment.

Objective To evaluate the curative effect of endoscopic treatment of ureteral stones accompanied with polyps. Methods A total of 35 cases of ureteral stones complicated with polyps were treated under ureteroscope by using electrocauterization and pneumatic lithotripter. Results All polyps were successfully cauterized. Stones were fragmented in 88.6% (31 of 35) of the cases.Because the stones moved into renal pelvis, ESWL was adopted after the intubation of double-J catheter in 2 cases. Conclusions After polyps have been cauterized by electrocauterization in advance, the treatment for ureteral stones by using ureteroscopy and pneumatic lithotripter is safe and effective.

Objective To investigate the expression of Uroplakin Ⅱ (UPⅡ) gene together with other conventional parameters in the patients with transitional cell carcinoma(TCC). Methods Total RNAs extracted from solid tumor tissues and blood samples of patients with TCC were reverse transcribed and subjected to polymerase chain reaction amplification (RT PCR).The products of RT PCR were analyzed by agarose gel electrophoresis. The expressions in solid tissues of other kinds of tumors and blood samples of non neoplasm patients served as controls. Results UPⅡ gene were expressed in all the solid tumor tissues of TCC(100%) and in the blood samples of 5 patients of T 3～T 4 neogrowth(39%), 2 of the 5 cases had hematogenous metastasis which became nondetectable after chemotherapy; UPⅡ gene has not been detected in the blood samples of T 1～T 2 TCC patients, the non neoplasm patients and other kinds of solid tumor tissues. Conclusions UPⅡ is one of the specific markers of urothelium.It can be found in TCC patients of stage T 3～T 4 and in patients with metastasis. The detection of UPⅡ in the blood sample might serve as a marker for chemotherapeutic efficacy.