ABSTRACT
@#National Comprehensive Cancer Network (NCCN) has updated and released the latest content of NCCN guidelines version 1. 2023 thymomas and thymic carcinomas (known as "guidelines"). The guideline sets standards for the diagnosis and treatment of thymoma and thymic carcinoma based on high quality clinical evidence and the latest advances in research. There have been some updates and revisions in the latest two versions of the guidelines, mainly focusing on the principles of radiotherapy, the principles of systematic therapy, multidisciplinary participation and the improvement of some footnotes, compared with the first version of the guidelines in 2022. In this paper, the contents of the new guideline will be interpreted in order to provide reference for the work of thymoma and thymic carcinoma in our country at the present stage.
ABSTRACT
Objective:To analyse the clinical features of encephalitis patients with antibodies against the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).Methods:Three anti-AMPAR encephalitis patients diagnosed in Tangdu Hospital, the Air Force Military Medical University between January 2020 and May 2021 were retrospectively reviewed. The clinical symptoms, supplementary examination, treatment options and outcomes with knowledge from literature were summarized in this study.Results:Three patients aging from 12 to 70 years presented with symptoms ranging from cognitive impairment, personality change to headache and paralysis. The lung occupying lesion was pathologically proved to be small cell lung cancer in case 1. Antibody to AMPAR (AMPAR-ab) was positive in both blood and cerebrospinal fluid of case 1, with coexisting antibodies against sex-determining region of Y chromosome-related high mobility group box 1 in blood, and the symptoms persisted but did not recur following therapy with corticosteroids. AMPAR-ab was detected only in serum in case 2, with the lesion located in both frontal and temporal lobes, centrum semiovale and lateral ventricle, combined with classic imaging features of intracranial hypotension, and the syndrome was partially improved following treatment with corticosteroids. The lesions were located in the pons and middle cerebellar peduncle, accompanied by cerebellar atrophy in case 3. Spinal cord magnetic resonance imaging showed long hyperintense lesions involving the cervical and thoracic cord, extending from C 2 to Th 10 level on T 2-weighted images. AMPAR-ab was positive in both serum and cerebrospinal fluid. And the symptoms improved significantly following treatment with corticosteroids and intravenous immunoglobulin. Conclusions:The clinical manifestations of anti-AMPAR encephalitis are highly heterogeneous, and brainstem and spinal cord can also be involved in addition to the limbic system, accompanied by brain atrophy. Combining with concurrent antibodies, especially the intracellular antibodies, malignancy needs to be closely monitored; the immunotherapy is effective and the presence of tumor superimposed with multiple antibodies may be associated with poor prognosis.
ABSTRACT
Objective:To analyze the clinical, neurophysiological and genetic features of CHRNB1 gene mutations-related congenital myasthenic syndromes (CMS), and to facilitate the recognition and differential diagnosis of this disorder.Methods:The clinical characteristics and laboratory features of the proband in a family with CHRNB1 gene mutations-related CMS were recorded, and the neurophysiological testing and high-throughput sequencing for the proband were performed. In addition, the response to the treatment and prognosis of the proband were reported.Results:The proband is a 16-year-old female who had bilateral eyelid ptosis at the age of 4, presented with limb weakness at the age of 12. Her father has the similar symptoms and other family members are not affected similarly. Serum creatine kinase and thyroid function were normal. Needle electromyography results demonstrated no myopathic disorders. All myasthenia gravis-related antibodies tests including anti-acetylcholine receptor antibody were negative and she failed to respond to pyridostigmine. There was a decremental response of the compound muscular action potential on 5 Hz repetitive nerve stimulation. Brain magnetic resonance imaging and chest CT were unremarkable. The proband was found a heterozygous mutation (c.865G>A (NM_000747)) in CHRNB1 gene exon 8 through high throughput sequencing. She started a 60 mg/d treatment of fluoxetine and showed beneficial response at one-year follow-up.Conclusions:The clinical presentation of CHRNB1 gene mutation-related slow-channel CMS is similar to autoimmune myasthenia gravis, and is likely to be misdiagnosed. High-throughput sequencing accelerates the diagnosis.
ABSTRACT
BACKGROUND: The use of three cannuiated screws is the preferred method for the treatment of femoral neck fractures for many years. However, some clinical studies have explored the clinical efficacy of triangular and Inverted triangular hollow screw Internal fixation In the treatment of femoral neck fracture, but the conclusions are not consistent. OBJECTIVE: To systematically review the efficacy of triangle and inverted triangle-configurated cannuiated screws in the treatment of femoral neck fractures. METHODS: The PubMed, Cochrane Library, EMbase, CNKI and WanFang Database were searched up to May 2018, for studies concerning the efficacy of three cannuiated screws fixation for femoral neck fractures. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data and assessed the methodological quality of included studies. The meta-analysis and trial sequential analysis were performed by using RevMan 5.3 software and TSA 0.9 respectively. RESULTS AND CONCLUSION: (1) A total of 8 cohort studies involving 1 150 patients were included. (2) The results of meta-analysis showed that compared with the inverted triangle group, the triangle group was inferior in operation time [MD=12.30, 95%C/(4.83,19.77), P < 0.01] and blood loss during the operation [MD=12.44, 95%C/(6.56, 18.32), P < 0.01]. However, there were no statistical differences between the two groups in femoral head osteonecrosis rate [0/?=0.66, 95%C/(0.34,1.29), P=0.22], nonunion rate [OR=1.37, 95%C/(0.86, 2.18), P=0.18] and the Harris scores in the final follow-up [OR=1.29, 95%C/(0.58, 2.26), P=0.53]. (3) Current evidence shows that inverted triangle group is superior to triangle group in shorting operation time and reducing blood loss. Nevertheless, there was no significant difference in femoral head osteonecrosis rate, nonunion rate, and the Harris scores < 70 in the final follow up. Because the inclusion of the study is mainly cohort study, and there is a large bias, so the above conclusions need to be verified by more multi-center randomized controlled trials.
ABSTRACT
Objective To summarize the clinical,electrophysiological profile and prognosis in paraneoplastic syndrome with SRY-like high-mobility group superfamily of developmental transcription factors (SOX) 1 antibody.Methods The clinical profile,laboratory examination,electrophysiology,tumor,treatment and prognosis of three patients of paraneoplastic syndrome with SOX1 antibody in Tangdu Hospital,Air Force Military Medical University from 2016 to 2018 were retrospectively analyzed.Results Proximal lower limbs weakness was the first symptom in all the three patients,weakness normally spreading proximally to distally,involving feet and hands,finally reaching the oculobulbar region,and dry mouth was the most common autonomic dysfunction.Compound muscle action potential (CMAP) amplitude was low in all the patients,and the CMAP amplitude became even lower at low stimulating frequencies.An increase in CMAP amplitude with high-frequency stimulation was found in two patients during the follow-up.Lambert-Eaton myasthenic syndrome (LEMS) and motor axonal peripheral neuropathy were considered.Acetylcholine receptors antibody was positive in one case and voltage-gated calcium channel antibody was positive in another case.Two cases were found complicated with small cell lung carcinoma,one case with small cell carcinoma of the esophagus.After treatment of intravenous immunoglobulin,chemotherapy and pyridostigmine,the prognosis of the patients was different.Conclusions SOX1 antibody as an antibody in paraneoplastic syndrome,is most common in small cell lung cancer with LEMS,sometimes with axonal peripheral neuropathy.LEMS needs to be considered when patients manifest proximal limb weakness and dry mouth,and screening for tumors is needed.
ABSTRACT
Objective To discuss the characteristics of clinical presentation,neuroimaging and genetics in a Chinese family of oculeptomeningeal amyloidosis (OLMA) associated with the transthyretin (TTR) Leul2Pro mutation.Methods Clinical characteristics of the pedigree and peripheral blood samples of an OLMA patient with TTR Leu12Pro mutation were collected from Tangdu Hospital on September 25,2015.Firstly,exon detection was performed on the proband and the family validation of her father and sister was carried out.The clinical,neuroimaging and genetic characteristics of the disease were analyzed.Results A 36-year-old right-handed woman was suffered recurrent episodes of slurred speech with right-sided weakness.She presented initi.ally with headache,autonomic dysfunction,visual and hearing loss.Magnetic resonance imaging showed extensive leptomeningeal enhancement,and cerebrospinal fluid analysis showed a raised protein of 1566.54 mg/L.The examination of the both eyes showed dry eye,vitreous opacity,and mild cataract.The proband and her sister,the sister's eldest daughter,the proband's son showed c.95T＞C mutation in exon2 of TTR gene and Leu12Pro mutation in TTR protein.Conclusions OLMA should be suspected if central nervous system symptoms are observed in combination with one or more of the following:family history of a neuropathy,autonomic dysfunction,cardiac hypertrophy,hear or ocular involvement,gadolinium-enhanced magnetic resonance imaging of the brain and spine revealing diffuse leptomeningeal enhancement,lumbar puncture demonstrating elevated protein without evidence of malignant cells on cytology.Genetic testing for pathogenic mutation in TTR gene is helpful for diagnosis of OLMA.
ABSTRACT
Objective To retrospectively analyze the effects of nerve block anesthesia versus general anesthesia on intertrochanteric fracture in the elderly. Methods The 104 elderly inpatients undergoing closed reduction and intramedullary nailing for the treatment of femoral intertrochanteric fractures were recruited into this study at Department of Orthopedics ,Xiangya Hospital ,Central South University from January 2015 to June 2017.Medical records were collected and analyzed by SPSS 16.0 or GraphPad Prism 6.0 software. Results A total of 104 patients were divided into general anesthesia group(n= 48 )and nerve block anesthesia group (n= 56 ). There was no statistical difference in the demographic characteristics between the two groups. The changes in heart rate ,maximum changes of systolic/diastolic blood pressures ,and infusion volume during surgery were lower in the nerve block anesthesia group than in the general anesthesia group [(12.7 ± 7.3)vs. (18.1 ± 7.8)beats/min ,(22.5 ± 8.8/12.2 ± 7.5)mmHg vs. (34.3 ± 7.9/21.6 ± 6.6)mmHg ,(792.9 ± 387.0)ml vs. (1 083.0 ± 445.5)ml ,respectively ,t=3.64 ,7.14 ,6.73 ,5.16 ,all P＜0.01]. There was no statistically significant difference between two groups in other perioperative data and the number of deaths at three months and one year after surgery. Conclusions As compared with the general anesthesia ,the nerve block anesthesia has less effects on the heart rate ,less maximum changes of systolic and diastolic blood pressures ,and less infusion volume during surgery ,and has no significant increase in postoperative mortality ,which is safe and worthy of further promotion.