Objective:To describe the clinical manifestations, genetic mutation site, diagnosis, and treatment of a patient with multisystem proteinopathy type 1 (MSP1) caused by valosin-containing protein ( VCP) gene mutation, and to improve clinicians′ understanding of this disease. Methods:A retrospective analysis was performed on clinical and genetic data from a confirmed VCP gene missense mutation-associated MSP1 case diagnosed at the Department of Neurology, Affiliated Zhongda Hospital, School of Medicine, Southeast University in January 2024. A 12-month follow-up and systematic literature review were performed for comprehensive analysis. Results:The 53-year-old male patient presented with progressive limb weakness over 7 months. Neurological examination demonstrated tongue fasciculations, asymmetric proximal muscle weakness in all four limbs, left patellar hyperreflexia, positive right Chaddock sign, and bilateral Hoffmann signs. Electrophysiological studies demonstrated extensive neurogenic damage. Lower-limb muscle magnetic resonance imaging (MRI) showed selective fatty infiltration in specific muscle groups. Biceps brachii biopsy pathology revealed rimmed vacuoles and grouped atrophy of typeⅡfibers. Immunofluorescence confirmed aberrant aggregation of VCP within atrophic myofibers, showing co-localization with p62 and transactive response DNA binding protein 43 (TDP-43). Whole-genome sequencing identified a heterozygous c.463C>T (p.Arg155Cys) missense mutation in exon 5 of the VCP gene, classified as a likely pathogenic mutation according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The patient was diagnosed with MSP1 with amyotrophic lateral sclerosis and inclusion body myopathy as the main clinical manifestation based on clinical manifestations, electrophysiology, imaging, histopathology, and genetic findings. After 12 months of riluzole therapy, disease progression remained relatively slow. Literature review identified 67 relevant articles, revealing 87 VCP mutation genotypes and 19 clinical phenotypes. Conclusions:MSP1 is a genetically and phenotypically heterogeneous spectrum of multisystem degenerative disorders. This case represents the first reported VCP-related MSP1 in China, characterized by amyotrophic lateral sclerosis combined with inclusion body myopathy. Riluzole treatment demonstrates slowed disease progression over 1 year.

Objective:To observe the clinical efficacy of gentle moxibustion at different temperatures in treating people with diarrhea-predominant bowel syndrome(IBS-D)due to spleen deficiency.Methods:A total of 108 IBS-D patients were divided into two groups using the random number table method,with 54 participants in each group.Moxibustion group 1 received gentle moxibustion at(43±1)℃at bilateral Tianshu(ST25)and Zusanli(ST36),lasting 30 min each session;moxibustion group 2 received gentle moxibustion at(37±1)℃at the same points.Both groups received the intervention 3 times weekly for a total of 18 sessions.Abdominal pain intensity,stool form,pattern-based efficacy,quality of life,and mental health assessments were performed at weeks 0,3,6,and 8.Results:The total effective rate for abdominal pain intensity was 87.8%in moxibustion group 1 versus 51.1%in moxibustion group 2,and the difference was statistically significant(P<0.05).When the treatment finished,abdominal pain intensity,the Bristol score,IBS-symptom severity scale(IBS-SSS)score,self-rating anxiety scale(SAS)score,and self-rating depression scale(SDS)score dropped significantly in both groups(P<0.05),and the IBS-quality of life(IBS-QOL)score increased markedly(P<0.05).Between-group comparisons demonstrated that abdominal pain intensity,the Bristol general score,IBS-SSS score,traditional Chinese medicine(TCM)pattern score,and SDS score were significantly lower in moxibustion group 1 than in moxibustion group 2 at treatment week 6(P<0.05),and the IBS-QOL score was notably higher in moxibustion group 1(P<0.05).Conclusion:Whether at 43℃or 37℃,gentle moxibustion at Tianshu(ST25)and Zusanli(ST36)can improve abdominal pain,stool form,and quality of life,reduce disease severity,and mitigate TCM pattern in IBS-D patients;43℃gentle moxibustion performs better than 37℃gentle moxibustion in improving abdominal pain,stool form,disease severity,TCM pattern,quality of life,anxiety,and depression in IBS-D.

Objective To explore the model of decreased ovarian reserve(DOR)induced by experimental autoimmune thyroiditis(EAT)in mice and investigate the protective mechanism of Jiexu Zichong Granules(ZCWS).Methods Ninety-six Kunming female mice were randomly divided into the J control group,BIW control group,J model group,and BIW model group.The mice were immunized with antigen(0.1 mg,once or twice per week)combined with high iodine water(0.64 g/L)for 7-19 weeks to validate the model.Subsequently,30 mice were randomly divided into the ZCWS group,model group,and control group.The DOR model was established by immunization with the antigen(0.2 mg per week)combined with high iodine water feeding for 13 weeks.The ZCWS group received oral administration of traditional Chinese medicine suspension(0.64 g/mL),while the remaining groups received an equivalent volume of physiological saline for 7 weeks.Thyroid and ovarian tissue morphology and related indicators were detected using HE staining,ELISA,IHC,and Western blot.Results Antigen immunization for 13 weeks(0.1-0.2 mg per week)combined with high iodine water feeding stably constructed the EAT DOR model.ZCWS reduced thyroid lymphocyte infiltration,follicular structure destruction,and serum TPOAb and TGAb levels(P<0.01).It inhibited MDA activity(P<0.01),increased GSH-Px and SOD activities(P<0.05),increased primordial,primary,and secondary follicles(P<0.05),and reduced atretic follicles(P<0.01).ZCWS upregulated AMH and downregulated FSH(P<0.01),regulated the expression of Bcl-2,Bax,and Caspase-3 proteins in ovarian tissue,downregulated Keap1 protein(P<0.01),and upregulated Nrf2(P<0.01),HO-1,and LONP1 proteins(P<0.05).It upregulated Bcl-2 protein(P<0.05),downregulated Bax(P<0.01),and Caspase-3(P<0.05)proteins,downregulated Keap1 protein(P<0.01),and upregulated Nrf2(P<0.01),HO-1,and LONP1 proteins(P<0.05)in ovarian tissue.Conclusion ZCWS improves ovarian reserve function in EAT mice by activating the Nrf2 pathway,inhibiting oxidative stress,and reducing follicular atresia.

Objective To study the impact of tympanic membrane opening on respiratory-driven middle ear pressure in patients with patulous eustachian tube(PET),using a simplified in vitro model.Methods CT imaging data from a PET patient(with full-length eustachian tube opening observed during a Valsalva maneuver followed by breath-holding)were used to design a simplified eustachian tube model.Two simplified in vitro models of the eusta-chian tube were constructed using silicone-based 3D printing technology and connected to a pressure controller and pressure sensors.The pressure controller was activated to introduce negative-pressure airflow into the nasopharyn-geal model to simulate respiratory-induced middle ear pressure fluctuations.A hemostat was used to alternately open and close the external interface of the middle ear chamber,simulating conditions of an open and intact tympanic membrane,while middle ear pressure was continuously monitored using pressure sensors.Results In the first mod-el,with-800 mbar negative pressure applied at the nasopharynx,the middle ear pressure stabilized between-3.9 mbar and-4.3 mbar with tympanic membrane opening,and between-7.9 mbar and-8.2 mbar with intact tym-panic membrane.In the second model,under the same pressure setting,middle ear pressure stabilized between-2.7 mbar and-3.1 mbar with tympanic membrane opening,and between-5.0 mbar and-7.7 mbar with intact tympanic membrane.Conclusion This study,based on a simplified in vitro model,demonstrates that tympanic membrane opening can effectively reduce respiratory-driven pressure in the middle ear.This phenomenon may partly explain the clinical efficacy of tympanostomy tube insertion in certain PET patients.

This paper summarizes Professor WANG Xiuxia's clinical experience in treating hyperprolactinemia using the liver soothing therapy. Professor WANG identifies liver qi stagnation and rebellious chong qi （冲气） as the core pathomechanisms of hyperprolactinemia. Furthermore， liver qi stagnation may transform into fire or lead to pathological changes such as spleen deficiency with phlegm obstruction or kidney deficiency with essence depletion. The treatment strategy centers on soothing the liver， with a modified version of Qinggan Jieyu Decoction （清肝解郁汤） as the base formula. Depending on different syndrome patterns such as liver stagnation transforming into fire， liver stagnation with spleen deficiency， or liver stagnation with kidney deficiency， heat clearing， spleen strengthening， or kidney tonifying herbs are added accordingly. In addition， three paired herb combinations are commonly used for symptom specific treatment， Danggui （Angelica sinensis） with Chuanxiong （Ligusticum chuanxiong）， Zelan （Lycopus lucidus） with Yimucao （Leonurus japonicus） ， and Jiegeng （Platycodon grandiflorus） with Zisu （Perilla frutescens）.

Objective This study aimed to investigate the efficacy of modified endoscopic autologous cartilage eustachian tube pharyngeal orifice tuboplasty(MEACETT)in patients with patulous eustachian tube(PET).Meth-ods A retrospective analysis was conducted on the clinical data of 27 patients(30 ears)diagnosed with PET who underwent MEACETT.Autologous cartilage was used through the incision at the posterior end of the inferior turbi-nate and filled into the lateral wall of the pharyngeal orifice of the eustachian tube.Without affecting the movement function of the eustachian tube during swallowing,the collapse of the pharyngeal orifice was fully filled.Before and after the surgery,the visual analogue scale(VAS),the eustachian tube dysfunction questionnaire-7(ETDQ-7)and hospital anxiety and depression scale(HADS)was used for assessment to evaluate the surgical efficacy.Results There was no significant difference in depression scores before and after surgery(P＞0.05).However,postopera-tive anxiety scores,ETDQ-7 scores,and VAS scores were significantly lower than preoperative scores(P＜0.05).Among the 27 patients,9 showed significant symptom relief,13 exhibited partial relief,and 5 had no significant change compared to preoperative symptoms.The overall response rate of the treatment(significant relief and partial relief)was 81.48％(22/27).All surgeries were successfully performed.Except for secretory otitis media occurring in 2 cases,no major complications were observed.Conclusion MEACETT demonstrates significant symptom relief in PET patients,with high surgical safety and low complication rates,making it worthy of clinical promotion.

Objective To evaluate the diagnostic efficacy of the R value in tubomanometry(TMM)for the di-agnosis of patulous eustachian tube(PET).Methods The clinical data of 58 patients with PET and 65 controls were retrospectively analyzed.TMM was performed on both groups under nasopharyngeal pressures of 30,40,and 50 mbar respectively.The diagnostic efficacy of the R value for PET was evaluated through receiver operating char-acteristic(ROC)curves.Results In the control group,the average R values under nasopharyngeal pressures of 30,40,and 50 mbar were 0.86±0.50,0.76±0.41,and 0.68±0.34 respectively.In contrast,the corresponding R values in the PET group were significantly lower,which were 0.56±0.38,0.50±0.36,and 0.46±0.38 respec-tively.According to the ROC curve analysis,the areas under the curve(AUC)at these pressures were 0.62,0.74,and 0.74 respectively.The specificity and sensitivity of the R value under nasopharyngeal pressures of 30,40,and 50 mbar were 76.90％and 54.30％,74.60％and 68.10％,86.90％and 54.30％,respectively.Under pressures of 30,40,and 50 mbar,the incidence rates of R＞1 in the control group and the PET group were 29.23％(38/130)and 12.77％(12/94)(x2=8.69,P=0.003),20.00％(26/130)and 6.38％(6/94)(x2=7.20,P=0.007),10.00％(13/130)and 3.19％(3/94)(x2=2.87,P=0.09)respectively.Conclusion Although the low R value in TMM reflects the presence of PET to some extent,it does not provide adequate sensitivity and specificity to serve as an independent diagnostic criterion for PET.

OBJECTIVE: To summarize the clinical characteristics of foot and ankle deformities combined with knee and lower limb deformities and evaluate the advantages, clinical outcomes, and considerations of QIN Sihe's surgical strategy for treating such complex deformities. METHODS: Between January 2022 and December 2024, 32 patients with foot and ankle deformities combined with knee and lower limb deformities were enrolled. The cohort included 23 males and 9 females, aged 10-67 years (mean, 41.1 years). The main etiologies included post-polio sequelae (20 cases) and congenital limb deformities (3 cases). Deformities were categorized as follows: equinovarus foot (12 cases), equinus foot (2 cases), equinovalgus foot (3 cases), equinus foot with swan-neck deformity (2 cases), calcaneus foot (5 cases), foot valgus (2 cases), knee flexion deformity (14 cases), genu recurvatum (4 cases), genu varum (3 cases), genu valgum (3 cases), lower limb shortening (3 cases), and lower limb external rotation (6 cases). QIN Sihe's surgical strategies included osteotomies, tendon releases, and tendon transfers for deformity correction, followed by external fixation for residual deformity adjustment and stabilization. Outcomes were assessed using QIN Sihe's Postoperative Evaluation Criteria for Lower Limb (Foot and Ankle) Deformity Correction and Functional Reconstruction. RESULTS: All patients were followed up 8-32 months (mean, 16.5 months). Complications included pin tract infection (1 case, 1 site), ankle pain (2 cases), delayed healing at the proximal tibial osteotomy site (1 case), and anterior talar dislocation (1 case). At last follow-up, insufficient correction of foot deformity was observed in 1 case; both knee and lower limb deformities were corrected, with only mild recurrence of knee flexion deformity in 1 case. The foot/ankle and knee joint function improved. Based on QIN Sihe's Postoperative Evaluation Criteria for Lower Limb (Foot and Ankle) Deformity Correction and Functional Reconstruction, outcomes were rated as excellent in 30 cases and good in 2 cases, with an excellent-good rate of 100%. CONCLUSION Foot and ankle deformities combined with knee and lower limb deformities are complex, QIN Sihe's surgical strategy can achieve satisfactory clinical outcomes for simultaneous correction.
Humans ; Male ; Female ; Adult ; Middle Aged ; Child ; Adolescent ; Aged ; Treatment Outcome ; Young Adult ; Plastic Surgery Procedures/methods* ; Lower Extremity Deformities, Congenital/surgery* ; Osteotomy/methods* ; Foot Deformities, Congenital/surgery* ; Ankle Joint/surgery* ; Knee Joint/surgery* ; Foot Deformities/surgery*

Ligusticum sinense cv.Fuxiong derived from"Xiongqiong",and in the Song Dynasty's Tai Ping Hui Min He Ji Ju Fang,it was already distinguished from Chuanxiong Rhizoma in usage.Doctors in the Ming Dynasty further clarified the differences in efficacy between the two.However,with the widespread circulation of Chuanxiong Rhizoma,Ligusticum sinense cv.Fuxiong gradually became marginalized,serving as a substitute,and is now only cultivated and used in small quantities within Jiangxi Province.This article reviewed the prescriptions and the ancient Chinese medical books that have records of Ligusticum sinense cv.Fuxiong,analyzed its specific applications alongside Chuanxiong Rhizoma in prescriptions and case studies to elucidate their differences in efficacy:Ligusticum sinense cv.Fuxiong is pungent and has strong dispersing power and is good at unblocking meridians and promoting qi circulation,which is suitable for excessive syndromes;Chuanxiong Rhizoma is good at promoting blood circulation and relieving pain,and is good at regulating and nourishing,which is suitable for patients with deficiency syndromes,aiming to provide insights and recommendations for the further development and rational clinical medication of Ligusticum sinense cv.Fuxiong.