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Objective To explore the clinical efficacy of surgical operation combined with INTRABEAM intraoperative radiotherapy in the limb-sparing treatment of soft tissue sarcoma. Methods A retrospective study was performed on four patients with limb soft tissue sarcoma admitted from July 2020 to October 2021 who received limb sparing surgery combined with INTRABEAM intraoperative radiotherapy. The operation went smoothly without anesthesia or accident. Results All the four patients received follow-up, ranging from 6 to 22 months. One patient had local recurrence two months after the surgery, and the patient refused amputation and received chemotherapy and targeted therapy. One patient had pulmonary metastasis ten months after the surgery and underwent surgical resection. One recurrent patient had poor limb function, and the other three patients had normal limb function. Conclusion Surgical operation combined with INTRABEAM intraoperative radiotherapy can preserve limb function while improving local control and quality of life.
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Objective:This study aims to reveal the special immune infiltrating environment and possible immune escape mechanism of giant cell tumor of bone through single-cell sequencing data.Methods:The fresh samples obtained from 4 patients with primary giant cell tumor of bone from January 2018 to December 2021 were collected, and single-cell transcriptome sequencing was performed on the 10X platform to explore the characteristics and immune environment of giant cell tumor of bone by using t-distributed stochastic neighbor embedding ( t-SNE). The main cell types and signal pathways of immune cell regulation and function in giant cell tumor of bone were observed by cell communication analysis. Results:Cell clustering, the definition of basic cell types, the classification of immune cells, and the mutual regulatory relationship between cell types were analyzed for 35 643 single-cell data from 4 giant cell tumor samples of bone. It was found that giant cell tumor of bone was composed of 9 basic cell types, in which the immune cells were mainly CD8 + T cells (51%) and the non-immune cells were mainly fibroblast like spindle stromal cells (74%). The immune infiltration of giant cell tumor of bone is dominated by cytotoxic CD8 + T cells and lacks exhausted CD8 + T cells. CD4 + T cells are characterized by high expression of immune checkpoint genes CTLA4 and TIGIT. In giant cell tumor of bone, immune cells mainly act on multinucleated osteoclast like giant cells through PARs and CCL signaling pathways, but not stromal cells. Conclusion:This study defined the main cell types of giant cell tumor of bone through single cell sequencing data, and further revealed the composition characteristics of its immune infiltration, and found that the target of its immune cells was mainly multinuclear osteoclast like giant cells, which provided effective information for further understanding the occurrence and development of giant cell tumor of bone.
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Objective:To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency (PDBPD) associated with HSD17B4 mutation. Methods:The clinical and genetic characteristics of 2 cases of PDBPD in August 2020, at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed. Results:Male proband and his sister suffered from neonatal epilepsy, psychomotor development disorders, ataxia, myasthenia, hearing impairment, and foot deformity.The very long chain fatty acids in serum were normal, and brain magnetic resonance imaging (MRI) showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations (c.1171G > C, c.686-2A>T) in HSD17B4.The clinical diagnosis was PDBPD, aged 8 and 14 years, respectively. Conclusions:Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland, which was in line with its typical clinical manifestations.The newly discovered c. 1171G> C and c. 686-2A>T mutations enriched the HSD17B4 mutation spectrum.
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Objective:To investigate the extracellular signal-regulated kinase 5 (ERK5) and matrix metallo proteinase-9 (MMP-9) expres-sion levels in osteosarcoma tissues and their clinical significance. Methods:The ERK5 and MMP-9 expression levels in 71 specimens of osteosarcoma tissue and 40 specimens of normal bone tissue were detected by immunohistochemistry. The relationship between ERK5 and MMP-9 expression levels, their clinical characteristics, and prognosis of patients with osteosarcoma were analyzed. Results:The positive expression of ERK5 and MMP-9 in osteosarcoma tissues was 85.9%(61/71) and 74.65%(53/71), respectively, which were significantly higher than those in normal bone tissues at 12.5%(5/40) and 10.0%(4/40) (all P<0.05). The positive expression of ERK5 and MMP-9 was associated with Enneking stage and metastasis (all P<0.05). Kaplan-Meier analysis showed that the survival duration of patients with positive ERK5 and MMP-9 expression levels was shorter than those of the patients in the negative expression groups (all P<0.05). Univariate analysis of COX proportional hazards regression model revealed that tumor size, Enneking stage, metastasis, and positive ERK5 and MMP-9 expression levels are relevant to the overall survival of patients with osteosarcoma (all P<0.05). Multi-variate analysis of COX proportional hazards regression model confirmed that Enneking stage, metastasis, and positive ERK5 and MMP-9 expression levels can act as independent prognostic factors for osteosarcoma patients (all P<0.05). Conclusion:The ERK5 and MMP-9 expression levels are high in osteosarcoma tissues and are related to the clinical characteristics and prognosis of patients with osteo-sarcoma. Thus, ERK5 and MMP-9 expression levels may play important roles in osteosarcoma development and progression.
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Objective To investigate the effect of valsartan and amlodipine on urinary microalbumin in elderly hypertensive patients. Methods 100 elderly patients with hypertension treated in our hospital from May 2015 to October 2016 were selected and randomly divided into the control group and the experimental group, with 50 patients in each group. The patients in the control group received oral valsartan, and the patients in the experimental group were treated with valsartan and amlodipine. The treatment time of the experimental group and the control group was 12 weeks. The clinical indexes of the experimental group and the control group were compared and analyzed. Results After the corresponding treatment, the experimental group and the control group did not have obvious adverse reactions. There were 2 cases of headache in the experimental group, 1 cases of vertigo, and 2 cases of vertigo in the control group. However, there was no significant difference in the incidence of adverse reactions between the experimental group and the control group, and there was no statistical significance. The antihypertensive effect of the experimental group was significantly higher than that of the control group, with statistical significance (P<0.05). After treatment, the urinary microalbumin in the experimental group and the control group was significantly lower than that in the treatment group, and the level of microalbuminuria in the experimental group was lower than that in the control group, with statistical significance (P<0.05). Conclusion The clinical effect of treatment of elderly patients with hypertension better combined with valsartan and amlodipine, antihypertensive effect is stronger, can significantly improve the patient's urinary albumin, with further clinical promotion and application significance.
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Objective To improve the recognition for infantile spinal muscular atrophy (SMA-Ⅰ) and the level of early diagnosis,intervention and treatment for SMA-Ⅰ.Methods The clinical data of 39 patients with SMA-Ⅰ were analyzed retrospectively, including the clinical manifestations, neural electrophysiological characteristics, geno-type, diagnosis,treatment and prognosis of SMA-Ⅰ.Results Of the 39 cases with SMA-Ⅰ , 37 cases (94.9％) had onset in 6 months after birth.The paralyses of the limbs were symmetrical and flaccid.The lower was more severe than the upper , and the proximal was more severe than the distal, hypotonia and tendinous reflex disappears.Thirty-two cases (82.1％) had normal serum creatine kinase, and 7 cases (17.9％) increased slightly.Nerve electrophysiological examination showed that 169 (96.0％) had spontaneous potentials in 176 muscles.Of 160 limb muscles,35 (21.8％) released few motor unit potential (MUP) ,117 (73.1％) extended the duration of MUP and 104 (65.0％) increased the amplitude of M UP.Of 167 peripheral motor nerves, 160 (95.8％)decreased the amplitude of the compound muscle action potential and 162 (97.0％) had normal motor conduction velocity.Of 93 peripheral sensory nerves, 93 (100.0％) had normal range of the conduction.The gene detection showed that 38 cases had homozygous deletion of exon 7,8, and 1 case had homozygous deletion of exon 7 and heterozygous deletion of exon 8.In the effective follow-up of 30 cases,6 cases died in the 2-3 months after birth,4 cases died in 10 months after birth, 12 cases died in 12-18 months after birth.Six cases survived to 2 years old,2 cases survived to 3 years old,and all of them died of pulmonary infection.Conclusions There are typical clinical and nerve electrophysiological characteristics for SMA-I.Nerve electrophysiological examination can be used as an important method for diagnosis and differential diagnosis for SMA-I.Genetic testing can be used to identify the disease and make prenatal diagnosis.Through comprehensive intervention the quality of life can be improved in SMA-Ⅰ children.