1.A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement
Hua ZHENG ; Yunfei ZHI ; Lujing YING ; Lan ZHU ; Mingliang JI ; Ze LIANG ; Jiangshan WANG ; Haifeng SHI ; Weihong ZHANG ; Mengsu XIAO ; Yushi ZHANG ; Kaifeng XU ; Zhaohui LU ; Yaping LIU ; Ruiyi XU ; Huijuan ZHU ; Li WEN ; Yan ZHANG ; Gang CHEN ; Limeng CHEN
JOURNAL OF RARE DISEASES 2024;3(1):79-86
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
2.Interpretation of clinical practice guidelines of diagnosis and treatment of hepatobiliary tumors: hepatocellular carcinoma and intrahepatic cholangiocarcinoma
Mingliang SHI ; Yang SHEN ; Mingda WANG ; Tian YANG
Chinese Journal of Digestive Surgery 2024;23(2):188-196
Primary liver cancer is a highly malignant tumor of the digestive tract, charac-terized by an insidious onset and frequently accompanied by local progression or distant metastasis. Although surgical resection is typically the optimal treatment for patients with locally resectable tumors, the major challenge in achieving long-term survival prognosis lies in the high postoperative recurrence rate. Due to the substantial heterogeneity and complexity of primary liver cancer, a multimodal comprehensive treatment approach involving surgical resection, systemic therapy ( e.g., targeted therapy, chemotherapy, immunotherapy), and/or local treatment is commonly employed. As research regarding primary liver cancer continues to progress, it becomes crucial for surgical oncologists to acquire a deep understanding and proficiency in the latest surgical diagnostic and treatment methods, along with optimal patient selection and management strategies. The authors aim to comprehensively elaborate on the latest practice guidelines for surgically treatment of primary liver cancer and systematically outline the key points in evaluating primary liver cancer, primarily focusing on hepatocellular carcinoma and intrahepatic bile duct carcinoma, and offer pertinent recommendations for clinical treatment, thus providing robust evidence in the clinical management and decision-making for patients with primary liver cancer.
3.Effect of electroacupuncture on HO-1/PINK1/Parkin signaling pathway during acute kidney injury in endotoxemic rats
Haibo LI ; Mingliang SHI ; Xizhe ZHANG ; Jiannan SONG ; Lina HOU ; Jiannan WU ; Ying GUO ; Qi ZHOU
Chinese Journal of Anesthesiology 2023;43(10):1220-1225
Objective:To evaluate the effect of electroacupuncture on the heme oxygenase-1 (HO-1)/PTEN-induced putative kinase 1 (PINK1)/Parkin signaling pathway during acute kidney injury in endotoxemic rats.Methods:Twenty-four SPF healthy male Sprague-Dawley rats, aged 6-8 weeks, weighing 180-220 g, were divided into 4 groups ( n=6 each) by a random number table method: control group(group C), endotoxemia group(group E), acupoint electroacupuncture+ endotoxemia group(group EE), and non-acupoint electroacupuncture+ endotoxemia group(group NE). The endotoxemia model was developed by intraperitoneal injection of lipopolysaccharide 10 mg/kg. The equal volume of normal salinewas injected in group C. LPS 10 mg/kg was intraperitoneally injected in group E. In group EE, 30-min electroacupuncture was performed at bilateral Zusanli and Shenshu acupoints using disperse-dense waves with a frequency of 2/15 Hz to induce slight muscle tremor once a day starting from 5 days before developing the model, and the needle was retained until 6 h after injection. Electroacupuncture was performed at the points 0.5 cm lateral to the acupoints of Zusanli and Shenshu in group NE. The rats were anesthetized at 6 h after lipopolysaccharide injection, and blood samples from the femoral vein were obtained for determination of the serum creatinine (Cr) and urea nitrogen (BUN) concentrations(with a biochemical analyzer) and concentrations of neutrophil gelatinase-associated lipid transport protein (NGAL), interleukin-6 (IL-6), tumor necrosis factor (TNF-α) and kidney injury molecule-1(KIM-1) in serum (by enzyme-linked immunosorbent assay). Then the rats were sacrificed and kidney tissues were taken for determination of histological score of kidneys (HSK, using HE staining) and expression of HO-1, PINK1, Parkin, mitochondrial fusion protein 2(Mfn2), optic atrophy protein 1(OPA1) and mitochondrial dynamic-related protein 1 (Drp1) (by Western blot). Results:Compared with group C, serum concentrations of Cr, BUN, KIM-1, NGAL, IL-6 and TNF-α and HSK score of renal tissues were significantly increased, the expression of HO-1, PINK1, Parkin and Drp1 was up-regulated, and the expression of Mfn2 and OPA1 was down-regulated in E, EE and NE groups ( P<0.05). Compared with group E, serum concentrations of Cr, BUN, KIM-1, NGAL, IL-6 and TNF-α and HSK score of renal tissues were significantly decreased, and the expression of HO-1, PINK1, Parkin, Mfn2 and OPA1 was up-regulated, and Drp1 expression was down-regulated in group EE( P<0.05), and no significant change was found in the parameters mentioned above in group NE ( P>0.05). Conclusions:The mechanism by which electroacupuncture alleviates acute kidney injury is associated with activation of HO-1/PINK1/Parkin signaling pathway in endotoxemic rats.
4.Mining and identification of a biosynthetic gene cluster producing xanthocillin analogues from Penicillium chrysogenum MT-40, an endophytic fungus of Huperzia serrata.
Wenjing WANG ; Beibei ZHANG ; Mingliang ZHANG ; Zekun ZHANG ; Yang WANG ; Xiangyu GE ; Yu DU ; Xiaoxue ZHANG ; Xiao LIU ; Juan WANG ; Xiaohui WANG ; Shepo SHI
Chinese Journal of Biotechnology 2023;39(9):3814-3826
Xanthocillin is a unique natural product with an isonitrile group and shows remarkable antibacterial activity. In this study, the genome of an endophytic fungus Penicillium chrysogenum MT-40 isolated from Huperzia serrata was sequenced, and the gene clusters with the potential to synthesize xanthocillin analogues were mined by local BLAST and various bioinformatics analysis tools. As a result, a biosynthetic gene cluster (named for) responsible for the biosynthesis of xanthocillin analogues was identified by further heterologous expression of the key genes in Aspergillus oryzae NSAR1. Specifically, the ForB catalyzes the synthesis of 2-formamido-3-(4-hydroxyphenyl) acrylic acid, and the ForG catalyzes the dimerization of 2-formamido-3-(4-hydroxyphenyl) acrylic acid to produce the xanthocillin analogue N, N'-(1, 4-bis (4-hydroxyphenyl) buta-1, 3-diene-2, 3-diyl) diformamide. The results reported here provide a reference for further discovery of xanthocillin analogues from fungi.
Penicillium chrysogenum/genetics*
;
Huperzia/microbiology*
;
Acrylates
;
Multigene Family
5.Flap of distal cutaneous perforator of medial plantar artery in reconstrution of destructive defect in the base plane of proximal phalange of great toe
Xiangguo ZHOU ; Rongjian SHI ; Di WEI ; Han YUAN ; Mingliang XU
Chinese Journal of Microsurgery 2023;46(3):303-308
Objective:To investigate the clinical effect of perforator flap of distal cutaneous perforator of medial plantar artery in recon struction of destructive defect in the base plane of proximal phalange of great toe.Methods:Twenty-six patients were treated in the Department of Foot and Ankle Surgery of Xuzhou Renci Hospital from September 2017 to December 2021. The patients were 24 males and 2 females, aged 26 to 60 years old. There were 12 defects in left foot and 14 in right foot. All the defects were the residual wounds at the first metatarsophalangeal joint with the defect at 2.0 cm × 3.0 cm - 4.0 cm × 5.0 cm in size. The flaps pedicled with distal cutaneous perforator of the medial plantar artery were used to repair the defects, with a size at 3.2 cm× 4.2 cm in average. Skin grafts were employed to repair the donor sites. Postoperative patient management including lifting the affected limbs and keeping warm, anti-infection, detumescence, anti-coagulation and pain relief.Results:All patients were entered in postoperative follow-up at outpatient clinic for 1-3 years. Twenty-two flaps survived after surgery, except 4 that had dark purple edge indicating venous congestion. Blood supply of the flap was regained after the tension of the flap was relieved by interval suture removal. Appearance of flaps was good, without obvious swelling nor pigmentation, good in elasticity, in hard texture and with good wear resistance. Patients showed no limp of the affected limbs, and without restriction in wearing shoes or walking. The function of feet was evaluated according to the American Orthopedic Foot and Ankle Societ (AOFAS) I50, with 24 patients in excellent and 2 in good.Conclusion:The anatomy of the flap pedicled with distal cutaneous perforator of the medial plantar artery is relatively constant. It provides a blood supply and does not affect the trunk of major artery. The flap has a thick skin cuticle hence it is wear-resistant. This flap provides a choice to the repair of a defect at proximal segment of great toe.
6.Seven new 3,4-dihydro-furanocoumarin derivatives from Angelica dahurica.
Yang WANG ; Fanyu SHI ; Zihan LU ; Mingliang ZHANG ; Zekun ZHANG ; Fangfang JIA ; Beibei ZHANG ; Lishan OUYANG ; Zhixiang ZHU ; Shepo SHI
Chinese Herbal Medicines 2023;15(3):457-462
OBJECTIVE:
To study the chemical constituents of the roots of Angelica dahurica, a well-known Chinese herbal medicine named Baizhi in Chinese.
METHODS:
Compounds were separated by various chromatographies, and the structures of new compounds were elucidated based on the analysis of their spectroscopic and spectrometric data (1D, 2D NMR, HRESI MS, IR, and UV). The absolute configurations of new compounds were determined by the calculated electronic circular dichroism and chemical derivatization. The inhibitory activities of all isolates against nitric oxide (NO) production were evaluated using lipopolysaccharide-activated RAW 264.7 macrophage cells.
RESULTS:
Seven new 3,4-dihydro-furanocoumarin derivatives ( 1a/ 1b, 2a/ 2b, 3a/ 3b, 4) together with a known furanocoumarin ( 5) were isolated from the roots of A. dahurica. The new compounds included three pairs of enantiomers, (4S, 2''R)-angelicadin A ( 1a)/(4R, 2''S)-angelicadin A ( 1b), (4S, 2''S)-angelicadin A ( 2a)/(4R, 2''R)-angelicadin A ( 2b), and (4S, 2''S)-secoangelicadin A ( 3a)/(4R, 2''R)-secoangelicadin A ( 3b), together with (4R, 2''R)-secoangelicadin A methyl ester ( 4). The known xanthotoxol ( 5) inhibited the NO production with the half-maximal inhibitory concentration (IC50) value of (32.8 ± 0.8) µmol/L, but all the new compounds showed no inhibitory activities at the concentration of 100 µmol/L.
CONCLUSION
This is the first report of the discovery of 3,4-dihydro-furanocoumarins from A. dahurica. The results are not only meaningful for the understanding of the chemical constituents of A. dahurica, but also enrich the reservoir of natural products.
7.Application of the Ilizarov technique in the treatment of post-traumatic lower extremity shortening with talipes equinovarus
Mingliang XU ; Guoliang CHEN ; Changhong DONG ; Aimin PENG ; Rongjian SHI ; Yilihamu YILIZATI·
Chinese Journal of Plastic Surgery 2023;39(3):285-292
Objective:To investigate the effect of the Ilizarov technique in the treatment of post-traumatic lower extremity shortening with talipes equinovarus.Methods:Clinical data of patients with post-traumatic lower extremity shortening and talipes equinovarus treated by the Ilizarov technique in the Department of Orthopaedics of Xuzhou Renci Hospital from January 2013 to April 2020 were retrospectively analyzed. The annular external fixator was installed on the affected limb according to the Ilizarov principle of external fixation. 3 days after the operation, the internal and lateral screw rods were adjusted at the speed of 2 mm/d to gradually correct the talipes equinovarus. 7 days after surgery, the lower leg was lengthened at a speed of 1 mm/d. After the foot was corrected, the foot external fixator was continued to be worn for 4 to 6 weeks, and then the fixator was removed and the foot was immobilized with a brace for 6 to 8 weeks. The lower leg fixator was removed after the lower extremity length was restored and the bone mineralization at the extension site was good. The length of both lower extremities, angle of talonavicular joint, angle of plantar flexion and dorsal extension of the ankle, and range of motion of ankle were compared before surgery and at the last follow-up. At the last follow-up, the affected feet were scored and rated using the International Clubfoot Study Group (ICFSG) scoring system, which was divided into four grades: excellent, good, medium, and poor. SPSS 25.0 software was used for statistical analysis, and each measurement index and ICFSG score were expressed in Mean±SD. Paired t-test was used to compare the preoperative and last follow-up data, and P<0.05 was considered statistically significant. Results:A total of 31 patients were enrolled, including 17 males and 14 females. The age was 15-18 years old, with an average of 16.5 years old. There were 16 cases on the right side and 15 cases on the left side. The lower extremity shortening was 45-75 mm, with an average of 65 mm. The fixation time of the external fixator was 4.5-6 months after surgery, with an average of 5 months, and the follow-up time was 22-28 months, with an average of 25.5 months. The length of the affected lower extremity recovered, the shape was basically satisfactory, and the plantar gait was restored. At the last follow-up, compared with the preoperative period, the anteroposterior talocalcaneal angle of the foot (23.0°±2.1° vs. 8.5°±2.6°), from lateral talocalcaneal angle the foot (27.0°±4.3° vs. 11.2°±4.4°), ankle plantar flexion angle (24.5°±6.8° vs. 51.1°±6.5°), ankle dorsiflexion angle (5.8°±3.5° vs. -46.8°±7.0°) and ankle range of motion (30.3°±8.2° vs. 4.2°±1.6°) were statistically significant ( P <0.01). ICFSG score: The points at the last follow-up (8.0 ± 4.2) were significantly lower than that before the operation (41.9 ± 5.3) ( P<0.01), of which 18 were excellent, 9 were good, and 4 were medium. Two cases had recurrent deformities in the later stage, and the results were satisfactory after the fusion of the talonavicular joint and calcaneocuboid joint and the anteposition of the posterior tibial tendon in the second stage. There were 4 cases of toe contracture deformity, which did not recur after the release of the flexor digitorum longus tendon at the toe. Anterior ankle impingement was observed in 5 cases and improved after the arthroscopic osteophyte removal. After the lower extremity extension was in place, the external fixator was replaced by the intramedullary nail for walking in 6 patients. The infection of the nail path occurred in 7 cases, which improved after replacement of fixing pins and dressing change of the nail path. Conclusion:The application of the Ilizarov technique in the treatment of post-traumatic lower extremity shortening with talipes equinovarus has the advantages of small trauma and dynamic control of deformity correction, which can achieve good result.
8.Application of the Ilizarov technique in the treatment of post-traumatic lower extremity shortening with talipes equinovarus
Mingliang XU ; Guoliang CHEN ; Changhong DONG ; Aimin PENG ; Rongjian SHI ; Yilihamu YILIZATI·
Chinese Journal of Plastic Surgery 2023;39(3):285-292
Objective:To investigate the effect of the Ilizarov technique in the treatment of post-traumatic lower extremity shortening with talipes equinovarus.Methods:Clinical data of patients with post-traumatic lower extremity shortening and talipes equinovarus treated by the Ilizarov technique in the Department of Orthopaedics of Xuzhou Renci Hospital from January 2013 to April 2020 were retrospectively analyzed. The annular external fixator was installed on the affected limb according to the Ilizarov principle of external fixation. 3 days after the operation, the internal and lateral screw rods were adjusted at the speed of 2 mm/d to gradually correct the talipes equinovarus. 7 days after surgery, the lower leg was lengthened at a speed of 1 mm/d. After the foot was corrected, the foot external fixator was continued to be worn for 4 to 6 weeks, and then the fixator was removed and the foot was immobilized with a brace for 6 to 8 weeks. The lower leg fixator was removed after the lower extremity length was restored and the bone mineralization at the extension site was good. The length of both lower extremities, angle of talonavicular joint, angle of plantar flexion and dorsal extension of the ankle, and range of motion of ankle were compared before surgery and at the last follow-up. At the last follow-up, the affected feet were scored and rated using the International Clubfoot Study Group (ICFSG) scoring system, which was divided into four grades: excellent, good, medium, and poor. SPSS 25.0 software was used for statistical analysis, and each measurement index and ICFSG score were expressed in Mean±SD. Paired t-test was used to compare the preoperative and last follow-up data, and P<0.05 was considered statistically significant. Results:A total of 31 patients were enrolled, including 17 males and 14 females. The age was 15-18 years old, with an average of 16.5 years old. There were 16 cases on the right side and 15 cases on the left side. The lower extremity shortening was 45-75 mm, with an average of 65 mm. The fixation time of the external fixator was 4.5-6 months after surgery, with an average of 5 months, and the follow-up time was 22-28 months, with an average of 25.5 months. The length of the affected lower extremity recovered, the shape was basically satisfactory, and the plantar gait was restored. At the last follow-up, compared with the preoperative period, the anteroposterior talocalcaneal angle of the foot (23.0°±2.1° vs. 8.5°±2.6°), from lateral talocalcaneal angle the foot (27.0°±4.3° vs. 11.2°±4.4°), ankle plantar flexion angle (24.5°±6.8° vs. 51.1°±6.5°), ankle dorsiflexion angle (5.8°±3.5° vs. -46.8°±7.0°) and ankle range of motion (30.3°±8.2° vs. 4.2°±1.6°) were statistically significant ( P <0.01). ICFSG score: The points at the last follow-up (8.0 ± 4.2) were significantly lower than that before the operation (41.9 ± 5.3) ( P<0.01), of which 18 were excellent, 9 were good, and 4 were medium. Two cases had recurrent deformities in the later stage, and the results were satisfactory after the fusion of the talonavicular joint and calcaneocuboid joint and the anteposition of the posterior tibial tendon in the second stage. There were 4 cases of toe contracture deformity, which did not recur after the release of the flexor digitorum longus tendon at the toe. Anterior ankle impingement was observed in 5 cases and improved after the arthroscopic osteophyte removal. After the lower extremity extension was in place, the external fixator was replaced by the intramedullary nail for walking in 6 patients. The infection of the nail path occurred in 7 cases, which improved after replacement of fixing pins and dressing change of the nail path. Conclusion:The application of the Ilizarov technique in the treatment of post-traumatic lower extremity shortening with talipes equinovarus has the advantages of small trauma and dynamic control of deformity correction, which can achieve good result.
9.Clinical outcomes of robotic arthroscopy for Hawkins type Ⅱ talus neck fracture
Guangchao CAO ; Rongjian SHI ; Mingliang XU ; Zhanbin CHEN ; Long YANG ; Ji ZHOU ; Liang ZHAO ; Guangrong YU
Chinese Journal of Orthopaedic Trauma 2022;24(5):392-396
Objective:To investigate the efficacy of TiRobot navigation combined with ankle arthroscopy in the reduction and internal fixation of Hawkins type Ⅱ talus neck fracture.Methods:From January 2019 to September 2020, a total of 13 patients with Hawkins type Ⅱ talus neck fracture were admitted to Department of Foot and Ankle Surgery, Xuzhou Renci Hospital. They were 8 males and 5 females, with a mean age of 35.8 years (from 22 to 61 years). All fractures were reduced and fixated using TiRobot navigation combined with ankle arthroscopy. Time for fracture reduction assisted by intraoperative arthroscopy, time for internal fixation assisted by TiRobotic navigation, fracture union time and complications were recorded. The American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot score was used at the last follow-up to evaluate the functional outcomes.Results:All the operations were finished within 2 hour. The primary screw placement succeeded in all. The time for fracture reduction assisted by intraoperative arthroscopy averaged 52.8 min (from 43 to 66 min) and the time for internal fixation assisted by TiRobotic navigation 43.6 min (from 33 to 55 min). All the patients were followed up for an average 13.3 months(from 12 to 15 monhs). They obtained bony union within 3 months. One patient developed traumatic subtalar arthritis with mild pain and was treated conservatively. None of the patients had complications like incision infection or talus necrosis. The average AOFAS ankle-hindfoot score was 91.0 points (from 83 to 94 points) at the last follow-up.Conclusion:In the reduction and internal fixation of Hawkins type Ⅱ talus neck fracture, TiRobot navigation combined with ankle arthroscopy shows advantages of minimal invasion, accurate reduction and screw placement, and limited complications, leading to fine short-term functional outcomes.
10.Minimally invasive treatment of mild to moderate hallux valgus with frequency conversion waterflood ultrasound extracapsular osteotomy
Mingliang XU ; Xiangguo ZHOU ; Di WEI ; Guoliang CHEN ; Han YUAN ; Xing SU ; Rongjian SHI
Chinese Journal of Plastic Surgery 2022;38(9):1035-1040
Objective:To investigate the effect of minimally invasive treatment of mild to moderate hallux valgus using frequency conversion waterflood ultrasound extracapsular osteotomy.Methods:The data of patients with mild to moderate hallux valgus who were treated with frequency conversion waterflood ultrasound extracapsular osteotomy at Department of Foot and Ankle Surgery, Xuzhou Renci Hospital from August 2017 to August 2020 were retrospectively analyzed. During the operation, the metatarsal bone was truncated outside the capsule of the medial joint of the first metatarsal head with frequency conversion waterflood ultrasound osteotomy to correct the hallux valgus deformity. The changes of hallux valgus angle (HVA), the first and second intermetatarsal angle (IMA), the distal articular surface angle of the first metatarsal bone (DMAA) and the range of motion(ROM) of the first metatarsophalangeal joint were compared before operation and at the last follow-up. The American Foot and Ankle Society (AOFAS) forefoot scoring system was used to evaluate the clinical effect. Measurement data with normal distribution were expressed as Mean±SD and analyzed by t-test. Results:A total of 32 patients (53 feet) were enrolled, including 6 males and 26 females; 28 left feet and 25 right feet; age (34.5±7.8) years old. All patients were followed up for (13.0±5.9) months. All osteotomy sites healed without metastatic metatarsalgia, infection and deformity recurrence. At the last follow-up, HVA, IMA, and DMAA were all improved compared with those before surgery [(11.25±1.59) ° vs. (33.45±4.45) °; (6.83±0.95) ° vs. (14.96±2.10) °; (6.26±1.92) ° vs. (23.64±4.72) °; all P<0.01], AOFAS forefoot score was significantly higher than that before operation (90.96±2.92 vs. 59.22±5.63, P<0.01). There was no significant difference in the ROM of the first metatarsophalangeal joint before and after operation ( P>0.05). Conclusions:The application of frequency conversion waterflood ultrasonic bone cutter combined with extracapsular osteotomy for minimally invasive treatment of mild to moderate hallux valgus has the advantages of small damage, inconspicuous scars, and reliable correction. It can be popularized in clinical practice.

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