1.Application of elbow skin fold extension line in extreme elbow flexion in ulnar Kirschner wire insertion of extended supracondylar humeral fractures in children.
Xu LIU ; Wei WU ; Yuzhou SHAN ; Guanghui YANG ; Ming CHEN
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(1):70-74
OBJECTIVE:
To discuss the elbow skin fold extension line in Kirschner wire internal fixation of extended supracondylar humeral fractures in children.
METHODS:
The clinical data of 58 children with extended supracondylar fractures of the humerus who met the selection criteria between August 2021 and July 2024 were retrospectively analyzed. In 28 cases, needle placement of medial epicondyle of humerus was performed with the assistance of the elbow skin fold extension line (study group), and 30 cases were assisted by routine touch of the medial epicondyle of the humerus (control group). There was no significant difference in baseline data such as gender, age, side, cause of injury, Gartland type, Kirschner wire configuration, and time from injury to operation between the two groups ( P>0.05). The closed reduction rate, total operation time, time of medial humeral condyle pin placement, fluoroscopy times during medial pin placement, rate of one-time determination of medial entry point, ulnar nerve injury incidence, and fracture healing time were recorded and compared between the two groups. At the same time, the closed reduction rate of patients with the time from injury to operation ≤24 hours and >24 hours was compared. The elbow function was evaluated by Mayo elbow function score.
RESULTS:
The closed reduction rate of the study group was significantly higher than that of the control group ( P<0.05). Among all patients, the closed reduction rate of patients with the time from injury to operation ≤24 hours [73.3% (22/30)] was significantly higher than that of patients >24 hours [42.9% (12/28)] ( χ 2=5.545, P=0.019). The total operation time, medial needle placement time, and fluoroscopy times in the study group were significantly less than those in the control group, and the one-time determination rate of medial needle entry point in the study group was significantly higher than that in the control group ( P<0.05). There were 4 cases of ulnar nerve injury in the control group, and no ulnar nerve injury in the study group, but there was no significant difference in the incidence of ulnar nerve injury between the two groups ( P>0.05). All patients were followed up 6-12 months (mean, 8 months). There was no bone nonunion in both groups, and the fracture healing time of the study group was significantly shorter than that of the control group ( P<0.05). Volkmann ischemic contracture, heterotopic ossification, myositis ossificans, and premature epiphyseal closure were not observed after operation. No complications such as loosening or fracture of Kirschner wire occurred. At last follow-up, the Mayo elbow joint function score was used to evaluate function, and there was no significant difference between the two groups ( P>0.05).
CONCLUSION
In the treatment of extended supracondylar fractures of the humerus in children, the elbow skin fold extension line can help to quickly locate the medial epicondyle of the humerus, quickly insert Kirschner wire, and reduce the operation time and trauma.
Humans
;
Humeral Fractures/surgery*
;
Bone Wires
;
Male
;
Female
;
Fracture Fixation, Internal/instrumentation*
;
Retrospective Studies
;
Child
;
Elbow Joint/physiopathology*
;
Child, Preschool
;
Treatment Outcome
;
Fracture Healing
;
Ulnar Nerve/injuries*
;
Adolescent
;
Range of Motion, Articular
2.Mixed-method Study on Regulatory Status and Standardization Issues of Centralized Decoction of Chinese Materia Medica in Hangzhou
Feiyu LI ; Guoxiu LIU ; Qianqian SUN ; Hongmei CHEN ; Yuzhou YANG ; Hanzong WANG ; Huaqiang ZHAI
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(11):6-12
Objective To analyze the current situation of quality control and regulation of centralized decoction of Chinese materia medica in Hangzhou through a mixed study combining quantitative research and qualitative research;To provide references for its standardization.Methods A self-designed questionnaire was distributed from July 20,2023 to August 10,2023 in institutions providing centralized decoction services of Chinese materia medica in different regions of Hangzhou.Using the stratified sampling method,the institutional personnel who completed the questionnaire survey were selected as the interviewees,and the semi-structured interview was used to refine the theme according to the Colaizzi seven step method.Results Totally 98 questionnaires were distributed and 96 valid questionnaires were recovered,with a valid recovery rate of 97.96%.There were significant differences in soaking time,concentration degree,and special decoction method such as decocted earlier or later of decoction pieces of Chinese materia medica among different types of institutions(P<0.05).The centralized decoction of Chinese materia medica in Hangzhou mainly involves two themes and seven sub themes:the supervision and management of the whole process of centralized decoction of Chinese materia medica(optimizing distribution of medical resources,strengthening of supervision,demanding guidance of standards),the operation of centralized decoction of Chinese materia medica(soaking time of decoction pieces of Chinese materia medica,the pretreatment operation of"decocted earlier and decocted later",the concentration treatment of Chinese materia medica decoction,and the quality control of Chinese materia medica decoction).Conclusion At present,centralized decoction of Chinese materia medica in Hangzhou still needs to be further standardized.It is recommended to strengthen the construction of shared Chinese materia medica pharmacy in the region,establish and improve the standard system of centralized decoction of Chinese materia medica decoction,and strengthen the construction of digital full chain traceability to improve the service quality and management level of centralized decoction of Chinese materia medica in Hangzhou.
3.Comparative Study on the Mechanism of Action of Ascending and Descending Drugs in the Treatment of Ulcerative Colitis
Lurong YANG ; Yuzhou ZHANG ; Yu'na LI
Journal of Zhejiang Chinese Medical University 2025;49(8):948-967
[Objective]To clarify the therapeutic effect of five groups of ascending and descending drugs on ulcerative colitis(UC),and to explore its different characteristics and potential regulatory pathways.[Methods]Sixty-four C57BL/6J male mice were randomly divided into normal control group,model control group,positive control group and five groups of ascending and descending drug groups,with 8 mice in each group.The UC model of mice was induced by dextran sulfate sodium(DSS).Except for the normal control group,the other groups of mice freely drank 2.5%DSS solution every day,and the mice in each drug group were given corresponding doses of drugs by gavage.During the modeling period,the state of the mice was observed every day,and the body weight,food intake,water intake and fecal morphology of the mice were recorded.At the end of the experiment,the disease activity index(DAI)score and colonic histopathological changes of mice in each group were compared.Transcriptome sequencing was used to analyze the differentially expressed genes in the colon of mice in each intervention group.Real-time quantitative polymerase chain reaction(RT-qPCR)was used to detect the expression level of node genes in key signaling pathway.[Results]Compared with normal control group,the DAI score of the mice in model control group was significantly increased(P<0.0001),the body weight was significantly decreased(P<0.05),the colon was significantly shortened(P<0.05),and a large number of inflammatory cell infiltration was observed.Compared with model control group,the diet of UC mice in Citri Reticulatae Pericarpium-Aurantii Fructus Immaturus group increased gradually;Platycodonis Radix-Armeniacae Semen Amarum group still had formed feces after modeling;the expression of estrogen signaling pathway-related genes closely related to pro-inflammatory response was down-regulated in Scutellariae Radix-Pinelliae Rhizoma Praeparatum Cum Zingibere Et Alumine group;the DAI index of UC mice in Atractylodis macrocephalae Rhizoma-Poria cocos group was significantly lower than that in other groups,and the liver index of UC mice in Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group was significantly lower than that in model control group(P<0.01).The G protein-coupled receptors(GPCRs)signaling pathway was up-regulated in the Atractylodis macrocephalae Rhizoma-Poria cocos group and Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group.[Conclusion]The five groups of ascending and descending drug pairs had different therapeutic characteristics in the treatment of UC induced by DSS.Among them,Citri Reticulatae Pericarpium-Aurantii Fructus Immaturus group,Atractylodis macrocephalae Rhizoma-Poria cocos group and Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group had obvious improvement effects on colon tissue pathological damage and submucosal collagen deposition.The protective effect on colonic goblet cells was relatively obvious in Atractylodis macrocephalae Rhizoma-Poria cocos group and Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group.The reduction of apolipoprotein A1(ApoA1)was most significant in Atractylodis macrocephalae Rhizoma-Poria cocos group,and the down-regulation of CXC chemokine ligand 10(CXCL10)gene expression was most obvious in Platycodonis Radix-Armeniacae Semen Amarum group.In general,the protective effect of Atractylodis macrocephalae Rhizoma-Poria cocos drug pair on UC was more comprehensive and worthy of further study.
4.Efficacy of virtual simulation-guided unilateral locking plate combined with Jail screw technique for double column tibial plateau fractures involving the posterolateral plateau
Wei JIANG ; Xiangru KONG ; Jianning SUN ; Yuzhou SHAN ; Hongbing ZHENG ; Guanghui YANG ; Bing WANG ; Hao CHEN
Chinese Journal of Trauma 2025;41(5):471-480
Objective:To investigate the efficacy of virtual simulation-guided unilateral locking plate combined with Jail screw technique for double column tibial plateau fractures involving the posterolateral plateau.Methods:A retrospective case series study was conducted to analyze the clinical data of 32 patients with double column tibial plateau fractures involving the posterolateral plateau admitted to Nanjing Drum Tower Hospital Group Suqian Hospital from March 2018 to March 2022, including 20 males and 12 females, aged 37-69 years [(47.5±6.9)years]. According to AO/OTA classification, the fractures were classified as type 41B in 17 patients and type 41C in 15. According to the three-column classification, the fractures were classified as lateral column+posterior column in 17 patients and medial column+posterior column in 15. Virtual simulation technique was used to simulate surgical operation before surgery. After reduction, the patients′ tibial plateau mirror models of the healthy side were used to simulate the implantation of internal fixators on the affected side. The position data of the placed internal fixators were obtained to guide the personalized treatment with unilateral locking plate combined with Jail screw technique. The total number of Jail screws, average number of Jail screws, distribution and accuracy of screw placement, operative duration, intraoperative blood loss, and fracture healing status were recorded. The posterior tibial plateau angle (PTSA), proximal medial tibial angle (MPTA) and Rasmussen anatomical score were compared before operation, at 1, 3, 6, 12 months after operation and at the last follow-up. The Lysholm scores at 6, 12 months after operation and at the last follow-up were used to evaluate the knee function. At the last follow-up, the knee range of motion was measured. Postoperative complications were observed.Results:All the patients were followed up for 28-36 months [(30.7±2.3)months]. The total number of Jail screws inserted was 48, with an average of (1.5±0.5) screws. In the sagittal direction, 1-2 Jail screws were inserted in each patient, with an accuracy rate of 88% (42/48). The operative duration was 78-116 minutes [(98.7±10.5)minutes]. The intraoperative blood loss was 70-120 ml [(96.6±15.6)ml]. All the fractures had healing of stage I, with a healing time of 4-7 months [(5.4±0.9)months]. At 1, 3, 6, 12 months after operation and at last follow-up, the PTSA, MPTA, and Rasmussen anatomical scores were significantly improved when compared with those before operation ( P<0.05), while there was no statistically significant difference between those at various postoperative time points ( P>0.05). The Lysholm knee scores were (83.6±3.9)points, (88.5±3.6)points, and (93.7±2.6)points at 6, 12 months after operation, and at the last follow-up, respectively, which were gradually increased with the passage of the follow-up time ( P<0.05). The range of motion was (121.4±4.6)° in flexion and was 0.0(0.0, 3.0)° in extension at the last follow-up. Two patients had superficial wound infection and 1 had wound dehiscence after operation, which recovered with dressing change or debridement and suturing. No deep infection, vascular injury or nerve damage occurred. Conclusions:The virtual simulation-guided unilateral locking plate combined with Jail screw technique has the advantages of high accuracy of screw placement, shorter operative duration, less intraoperative blood loss, satisfactory fracture reduction, favorable recovery of knee function and range of motion, and fewer postoperative complications in the treatment of double column tibial plateau fractures involving the posterolateral plateau.
5.Mixed-method Study on Regulatory Status and Standardization Issues of Centralized Decoction of Chinese Materia Medica in Hangzhou
Feiyu LI ; Guoxiu LIU ; Qianqian SUN ; Hongmei CHEN ; Yuzhou YANG ; Hanzong WANG ; Huaqiang ZHAI
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(11):6-12
Objective To analyze the current situation of quality control and regulation of centralized decoction of Chinese materia medica in Hangzhou through a mixed study combining quantitative research and qualitative research;To provide references for its standardization.Methods A self-designed questionnaire was distributed from July 20,2023 to August 10,2023 in institutions providing centralized decoction services of Chinese materia medica in different regions of Hangzhou.Using the stratified sampling method,the institutional personnel who completed the questionnaire survey were selected as the interviewees,and the semi-structured interview was used to refine the theme according to the Colaizzi seven step method.Results Totally 98 questionnaires were distributed and 96 valid questionnaires were recovered,with a valid recovery rate of 97.96%.There were significant differences in soaking time,concentration degree,and special decoction method such as decocted earlier or later of decoction pieces of Chinese materia medica among different types of institutions(P<0.05).The centralized decoction of Chinese materia medica in Hangzhou mainly involves two themes and seven sub themes:the supervision and management of the whole process of centralized decoction of Chinese materia medica(optimizing distribution of medical resources,strengthening of supervision,demanding guidance of standards),the operation of centralized decoction of Chinese materia medica(soaking time of decoction pieces of Chinese materia medica,the pretreatment operation of"decocted earlier and decocted later",the concentration treatment of Chinese materia medica decoction,and the quality control of Chinese materia medica decoction).Conclusion At present,centralized decoction of Chinese materia medica in Hangzhou still needs to be further standardized.It is recommended to strengthen the construction of shared Chinese materia medica pharmacy in the region,establish and improve the standard system of centralized decoction of Chinese materia medica decoction,and strengthen the construction of digital full chain traceability to improve the service quality and management level of centralized decoction of Chinese materia medica in Hangzhou.
6.Efficacy of virtual simulation-guided unilateral locking plate combined with Jail screw technique for double column tibial plateau fractures involving the posterolateral plateau
Wei JIANG ; Xiangru KONG ; Jianning SUN ; Yuzhou SHAN ; Hongbing ZHENG ; Guanghui YANG ; Bing WANG ; Hao CHEN
Chinese Journal of Trauma 2025;41(5):471-480
Objective:To investigate the efficacy of virtual simulation-guided unilateral locking plate combined with Jail screw technique for double column tibial plateau fractures involving the posterolateral plateau.Methods:A retrospective case series study was conducted to analyze the clinical data of 32 patients with double column tibial plateau fractures involving the posterolateral plateau admitted to Nanjing Drum Tower Hospital Group Suqian Hospital from March 2018 to March 2022, including 20 males and 12 females, aged 37-69 years [(47.5±6.9)years]. According to AO/OTA classification, the fractures were classified as type 41B in 17 patients and type 41C in 15. According to the three-column classification, the fractures were classified as lateral column+posterior column in 17 patients and medial column+posterior column in 15. Virtual simulation technique was used to simulate surgical operation before surgery. After reduction, the patients′ tibial plateau mirror models of the healthy side were used to simulate the implantation of internal fixators on the affected side. The position data of the placed internal fixators were obtained to guide the personalized treatment with unilateral locking plate combined with Jail screw technique. The total number of Jail screws, average number of Jail screws, distribution and accuracy of screw placement, operative duration, intraoperative blood loss, and fracture healing status were recorded. The posterior tibial plateau angle (PTSA), proximal medial tibial angle (MPTA) and Rasmussen anatomical score were compared before operation, at 1, 3, 6, 12 months after operation and at the last follow-up. The Lysholm scores at 6, 12 months after operation and at the last follow-up were used to evaluate the knee function. At the last follow-up, the knee range of motion was measured. Postoperative complications were observed.Results:All the patients were followed up for 28-36 months [(30.7±2.3)months]. The total number of Jail screws inserted was 48, with an average of (1.5±0.5) screws. In the sagittal direction, 1-2 Jail screws were inserted in each patient, with an accuracy rate of 88% (42/48). The operative duration was 78-116 minutes [(98.7±10.5)minutes]. The intraoperative blood loss was 70-120 ml [(96.6±15.6)ml]. All the fractures had healing of stage I, with a healing time of 4-7 months [(5.4±0.9)months]. At 1, 3, 6, 12 months after operation and at last follow-up, the PTSA, MPTA, and Rasmussen anatomical scores were significantly improved when compared with those before operation ( P<0.05), while there was no statistically significant difference between those at various postoperative time points ( P>0.05). The Lysholm knee scores were (83.6±3.9)points, (88.5±3.6)points, and (93.7±2.6)points at 6, 12 months after operation, and at the last follow-up, respectively, which were gradually increased with the passage of the follow-up time ( P<0.05). The range of motion was (121.4±4.6)° in flexion and was 0.0(0.0, 3.0)° in extension at the last follow-up. Two patients had superficial wound infection and 1 had wound dehiscence after operation, which recovered with dressing change or debridement and suturing. No deep infection, vascular injury or nerve damage occurred. Conclusions:The virtual simulation-guided unilateral locking plate combined with Jail screw technique has the advantages of high accuracy of screw placement, shorter operative duration, less intraoperative blood loss, satisfactory fracture reduction, favorable recovery of knee function and range of motion, and fewer postoperative complications in the treatment of double column tibial plateau fractures involving the posterolateral plateau.
7.Comparative Study on the Mechanism of Action of Ascending and Descending Drugs in the Treatment of Ulcerative Colitis
Lurong YANG ; Yuzhou ZHANG ; Yu'na LI
Journal of Zhejiang Chinese Medical University 2025;49(8):948-967
[Objective]To clarify the therapeutic effect of five groups of ascending and descending drugs on ulcerative colitis(UC),and to explore its different characteristics and potential regulatory pathways.[Methods]Sixty-four C57BL/6J male mice were randomly divided into normal control group,model control group,positive control group and five groups of ascending and descending drug groups,with 8 mice in each group.The UC model of mice was induced by dextran sulfate sodium(DSS).Except for the normal control group,the other groups of mice freely drank 2.5%DSS solution every day,and the mice in each drug group were given corresponding doses of drugs by gavage.During the modeling period,the state of the mice was observed every day,and the body weight,food intake,water intake and fecal morphology of the mice were recorded.At the end of the experiment,the disease activity index(DAI)score and colonic histopathological changes of mice in each group were compared.Transcriptome sequencing was used to analyze the differentially expressed genes in the colon of mice in each intervention group.Real-time quantitative polymerase chain reaction(RT-qPCR)was used to detect the expression level of node genes in key signaling pathway.[Results]Compared with normal control group,the DAI score of the mice in model control group was significantly increased(P<0.0001),the body weight was significantly decreased(P<0.05),the colon was significantly shortened(P<0.05),and a large number of inflammatory cell infiltration was observed.Compared with model control group,the diet of UC mice in Citri Reticulatae Pericarpium-Aurantii Fructus Immaturus group increased gradually;Platycodonis Radix-Armeniacae Semen Amarum group still had formed feces after modeling;the expression of estrogen signaling pathway-related genes closely related to pro-inflammatory response was down-regulated in Scutellariae Radix-Pinelliae Rhizoma Praeparatum Cum Zingibere Et Alumine group;the DAI index of UC mice in Atractylodis macrocephalae Rhizoma-Poria cocos group was significantly lower than that in other groups,and the liver index of UC mice in Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group was significantly lower than that in model control group(P<0.01).The G protein-coupled receptors(GPCRs)signaling pathway was up-regulated in the Atractylodis macrocephalae Rhizoma-Poria cocos group and Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group.[Conclusion]The five groups of ascending and descending drug pairs had different therapeutic characteristics in the treatment of UC induced by DSS.Among them,Citri Reticulatae Pericarpium-Aurantii Fructus Immaturus group,Atractylodis macrocephalae Rhizoma-Poria cocos group and Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group had obvious improvement effects on colon tissue pathological damage and submucosal collagen deposition.The protective effect on colonic goblet cells was relatively obvious in Atractylodis macrocephalae Rhizoma-Poria cocos group and Atractylodis macrocephalae Rhizoma-Paeoniae Radix Alba group.The reduction of apolipoprotein A1(ApoA1)was most significant in Atractylodis macrocephalae Rhizoma-Poria cocos group,and the down-regulation of CXC chemokine ligand 10(CXCL10)gene expression was most obvious in Platycodonis Radix-Armeniacae Semen Amarum group.In general,the protective effect of Atractylodis macrocephalae Rhizoma-Poria cocos drug pair on UC was more comprehensive and worthy of further study.
8.Research progress on sleep disorders affecting mucosa healing mechanism after oral ulcer
Qi HUANG ; Kehao LIU ; Ziyu HUANG ; Sheng YANG ; Yuzhou LI
Chongqing Medicine 2024;53(23):3645-3650
Oral ulcers refers to the disruption occurrence of mucosal epithelial integrity,its occurrence and development are affected by a variety of factors such as systemic diseases,genetics,immunity and systemic subhealth state;sleep is closely related to human health,and long-term sleep disturbance can lead to endocrine disorders,immune disorders,and metabolic diseases.Epidemiologic studies find that sleep quality is closely re-lated to mucosal healing,and sleep disorders may be a potential risk factor for impaired mucosal healing.The animal experiments verify that sleep deprivation exacerbates oral ulcer symptoms and delays the oral ulcer healing in rats,but the exact cellular and molecular mechanisms are unclear.This paper reviews the mecha-nisms of sleep disorders in affecting mucous membrane healing after oral ulcer in order to provide a theoretical basis for basic research and treatment of mucosal healing and soft tissue regeneration.
9.Clinical characteristics and prognosis of stiff-person syndrome associated with glutamic acid decarboxylase 65 antibodies: a case series from China
Lin BAI ; Hongzhi GUAN ; Siyuan FAN ; Haitao REN ; Yuzhou GUAN ; Yingmai YANG ; Yicheng ZHU ; Liying CUI
Chinese Journal of Neurology 2024;57(9):993-999
Objective:To analyze the clinical characteristics and prognosis of patients with stiff-person syndrome (SPS) associated with glutamic acid decarboxylase (GAD) antibodies.Methods:A retrospective analysis was conducted on demographic characteristics, clinical manifestations, auxiliary examination results, treatment, and prognosis of patients with GAD antibody-related SPS treated at Peking Union Medical College Hospital from January 2015 to July 2023.Results:A total of 33 patients were included, comprising 26 females (78.8%) and 7 males (21.2%), with an onset age of (42±12) years and a disease duration of 24.0 (10.5, 37.5) months. Two cases (6.1%) were diagnosed with tumors, including 1 case with invasive thymoma and 1 case with small cell lung cancer. The majority of patients (87.9%, 29/33) presented with stiffness of trunk and proximal limb muscles, 42.4% (14/33) of patients exhibited episodic spasm, and 54.5% (18/33) of patients were triggered by stimuli such as sound and light. Babinski or Chaddock reflexes were elicited in 33.3% (11/33) of patients. Some patients (36.4%, 16/33) had concurrent limbic encephalitis/epilepsy or cerebellar ataxia (referred to as complex SPS). The median cerebrospinal fluid (CSF) white blood cell count was 2×10 6/L [quartile: 1×10 6/L, 6×10 6/L; range: (0-30)×10 6/L], with mild elevation in 28.0% (7/25) of patients. Multi-channel surface electromyography in 14 out of 21 cases (66.7%) suggested synchronous contraction of agonist and antagonist muscles in a relaxed state. The modified Rankin Scale (mRS) score during the acute phase was 4 (3, 4). All patients received treatment with benzodiazepines or baclofen. Thirty patients (90.9%, 30/33) received first-line immunotherapy, 3 patients (9.1%, 3/33) received second-line immunotherapy with rituximab, and 14 (42.4%, 14/33) received mycophenolate mofetil as long-term immunotherapy. The follow-up period was 16 (10, 42) months, with a median best mRS score of 2; 66.7% (22/33) of patients had a favorable functional prognosis (mRS score≤2), and the recurrence rate was 30.0% (9/30). At the last follow-up, the median mRS score was 2, and 53.3% (16/30) of patients had a favorable functional prognosis. Prognosis was not significantly correlated with gender, age, clinical type, or CSF white blood cell level (all P>0.05). Conclusions:SPS is one of the main clinical phenotypes of GAD antibody-related neuroimmune diseases, commonly observed in middle-aged women, and exhibits a chronic progressive course. Only a minority of patients have concomitant tumors. The diagnosis relies on typical symptoms, GAD antibody testing, and electromyography examination. The initial immune therapy yields good results, but the prognosis for recurrent patients is poor.
10.Clinical and electrophysiological characteristics of patients with facial onset sensory motor neuronopathy syndrome
Xunzhe YANG ; Dongchao SHEN ; Nan HU ; Lei ZHANG ; Jing FAN ; Yimin WU ; Youfang HU ; Qingyun DING ; Yuzhou GUAN ; Mingsheng LIU ; Liying CUI
Chinese Journal of Neurology 2023;56(11):1217-1222
Objective:To investigate the clinical and electrophysiological characteristics of facial onset sensory motor neuronopathy (FOSMN) syndrome.Methods:Ten patients diagnosed with FOSMN syndrome in Peking Union Medical College Hospital from January 2012 to December 2022 were included. The clinical and electrophysiological characteristics of patients were analyzed and summarized, and the genetic testing was also performed in these patients.Results:The age of onset was (56.6±6.5) years, and the longest survival duration of disease was 10 years. All patients had numbness around the face and mouth as the first symptom and abnormal blink reflex. A total of 52 sensory nerve conduction nerves were detected, among which 2 median nerves and 2 μlnar nerves showed decreased amplitude of sensory nerve action potential. Needle electromyography showed neurogenic lesions, with both progressive and chronic denervation. Whole exome sequencing identified the heterozygous variant c.272A>C in the exon 4 of the SOD1 gene resulting in the amino acid change p.Asp90Ala in 1 patient. In all patients, the disease progressed relentlessly and eventually led to involvement of respiratory muscle. Conclusion:FOSMN syndrome is characterized by abnormal blink reflex and sometimes abnormal sensory nerve conduction may be shown on electrophysiologic testing.

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