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1.
Zhonghua Yi Xue Za Zhi ; 104(21): 1987-1993, 2024 Jun 04.
Artigo em Chinês | MEDLINE | ID: mdl-38825942

RESUMO

Objective: To test the new method of iMAX (the minimum stimulus current that elicits the maximum compound muscle action potential amplitude) electrodiagnosis, verify the feasibility of this method in evaluating the excitability of peripheral motor axons, and preliminarily explore the clinical application value. Methods: This study was a cross-sectional study. A total of 50 healthy subjects were recruited from the outpatient department of Peking University Third Hospital from June 2022 to March 2023, including 25 males and 25 females, aged 25-68 (48±8) years. Eleven patients with Charcot-Marie-Pain-1A (CMT1A), 7 males and 4 females, aged 19-55 (41±13) years and 21 patients with diabetic peripheral neuropathy (DPN), 10 males and 11 females, aged 28-79 (53±16) years were enrolled in this study. iMAX of bilateral median nerves, ulnar nerves and peroneal nerves were detected in all patients. Repeatable motor responses with minimum motor threshold and amplitude of at least 0.1 mV and the minimum stimulus current intensity, at which the maximum compound muscle action potential amplitude is elicited, were measured respectively [1 mA increment is called (iUP) and, 0.1 mA adjustment is called (iMAX)].Comparison of the parameters: the parameters of threshold, iUP and iMAX were compared among different age groups, genders and sides, body mass index(BMI) values and detection time , as well as between CMT1A patients, DPN patients and healthy subjects. Results: In healthy subjects, the threshold, iUP value and iMAX value were (1.8±0.7) mA, (4.4±1.2) mA, and (4.2±1.3) mA respectively; ulnar nerve (3.1±1.6) mA, (6.8±3.2) mA, (6.4±3.2) mA; peroneal nerve (3.7±2.0) mA, (7.8±2.8) mA, (7.4±2.9) mA. There were statistically significant differences in threshold, iUP value and iMAX value among different age groups (all P<0.001).With the increase of age, there was a trend of increasing threshold, iUP, and iMAX values in different nerves, and the differences are statistically significant (all P<0.001). There were no significant differences in gender, side and detection time threshold, iUP value and iMAX value (all P>0.05). The parameters of healthy subjects with high BMI value were higher than those of healthy subjects with low BMI value(all P<0.05). Compared with the healthy subjects, the parameters of 11 CMT1A patients were significantly increased (all P<0.05), and the parameters of 21 DPN patients were slightly increased (P<0.05). Conclusion: The new iMAX method reflects the excitability of motor axons and early axonal dysfunction, which is an important supplement to the traditional nerve conduction, and can be used to monitor motor axon excitability disorders.


Assuntos
Potenciais de Ação , Eletrodiagnóstico , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Estudos Transversais , Idoso , Eletrodiagnóstico/métodos , Neurônios Motores/fisiologia , Nervo Mediano/fisiopatologia , Condução Nervosa , Nervo Ulnar , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/fisiopatologia , Nervos Periféricos/fisiopatologia , Estimulação Elétrica , Eletromiografia
2.
Zhonghua Wei Chang Wai Ke Za Zhi ; 27(6): 630-633, 2024 Jun 25.
Artigo em Chinês | MEDLINE | ID: mdl-38901999

RESUMO

Objective: This report presents the initial outcomes of endoscopic intermuscular dissection (EID), a novel technique introduced by our team for the diagnostic resection of early rectal cancer, focusing on the postoperative status of the vertical margins. Methods: On January 26, 2024, a patient with early rectal cancer (cT1-2N0M0) underwent Endoscopic Intermuscular Dissection. The EID procedure consists of six steps: (1) mucosal incision; (2) submucosal dissection; (3) superficial muscular layer incision; (4) intermuscular dissection; (5) complete tumor removal; (6) wound management. Results: The patient was a 70-year-old male with rectal cancer (cT1-2N0M0). The tumor was located on the left anterior wall of the rectum, approximately 9 cm from the anal margin, and measured 20mm in size. The dissection rate was 2.68 mm²/minute, and the total duration of the surgery was 109 minutes. The patient was successfully discharged on the fifth day after surgery. Pathological examination of the post-endoscopic surgery specimen revealed pT1b, with negative vertical margins. Follow-up after more than one month showed good recovery with no complications such as bleeding, perforation, infection, or stricture occurring. Colonoscopy indicated the presence of a granulation tissue suggestive of inflammation. Conclusion: Endoscopic Intermuscular Dissection for the diagnostic resection of early rectal cancer is potentially safe and may achieve negative vertical margins.


Assuntos
Neoplasias Retais , Humanos , Neoplasias Retais/cirurgia , Neoplasias Retais/diagnóstico , Idoso , Masculino , Ressecção Endoscópica de Mucosa/métodos , Dissecação/métodos , Reto/cirurgia
5.
SAR QSAR Environ Res ; 34(10): 789-803, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37722394

RESUMO

Deep learning (DL) methods further promote the development of quantitative structure-activity/property relationship (QSAR/QSPR) models by dealing with complex relationships between data. An acetylcholinesterase inhibitory toxicity model of ionic liquids (ILs) was established using a convolution neural network (CNN) combined with support vector machine (SVM), random forest (RF) and multilayer perceptron (MLP). A CNN model was proposed for feature self-learning and extraction of ILs. By comparing with the model results through feature engineering (FE), the model regression results based on the CNN model for feature extraction have been substantially improved. The results showed that all six models (FE-SVM, FE-RF, FE-MLP, CNN-SVM, CNN-RF, and CNN-MLP) had good prediction accuracy, but the results based on the CNN model were better. The hyperparameters of six models were optimized by grid search and the 10-fold cross validation. Compared with the existing models in the literature, the model performance has been further improved. The model could be used as an intelligent tool to guide the design or screening of low-toxicity ILs.


Assuntos
Líquidos Iônicos , Líquidos Iônicos/toxicidade , Estrutura Molecular , Acetilcolinesterase , Relação Quantitativa Estrutura-Atividade , Redes Neurais de Computação
6.
Georgian Med News ; (338): 102-103, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37419480

RESUMO

More than 3 years since cases were first reported, the COVID-19 pandemic remains an acute global emergency. As of April 12, the number of confirmed deaths worldwide was 6,897,025. Since January 8, 2023, based on the evaluation of the virus mutation, prevention, and control situation, according to the Infectious Diseases Prevention and Control Law, COVID-19 disease has been under Category B management in China. The number of COVID-19 cases in Chinese hospitals nationwide peaked (1.625 million) on January 5, 2023, and then decreased continually to 248,000 on January 23, 2023, with an 84.8% reduction from the peak. During the national COVID-19 pandemic in January 2023, we found that serum myoglobin reduced below the reference interval in 956 patients with COVID-19 who presented to the emergency department of our hospital from January 1 to January 31, 2023. So far, no articles specifically reporting the decrease of serum myoglobin in patients with COVID-19 have been retrieved. These 956 patients with low serum myoglobin were identified from 1142 COVID-19 patients who came to the emergency department of our hospital with symptoms of palpitations or chest tightness or chest pain. All 956 patients visited the hospital more than 2 weeks after the first symptoms appeared. The patient's initial symptoms were fever or cough but resolved before they arrived in the emergency department. There were 358 males and 598 females, aged from 14 to 90 years. Electrocardiogram showed no myocardial damage. Chest CT showed no signs of acute pulmonary infection. Cardiac enzymes and blood cell analysis were performed. The reference interval of serum myoglobin in our hospital is 28.0-72.0 ng/ml in males and 25.0-58.0 ng/ml in females. Patient data were obtained from a review of the electronic medical record system. What is the significance of serum myoglobin falling below the reference interval in patients with COVID-19? So far, no reports have been found in the literature. It may have the following implications: 1. Of cardiac biomarkers, an increase in myoglobin could efficiently predict COVID-19 severity in its early stages. Perhaps a decrease in myoglobin also predicts that COVID-19 patients will not have severe myocardial damage later in the disease. 2. Individuals differ widely in the clinical consequences of SARS-CoV-2 infection, from asymptomatic illness to death. Cong Chen et al. have indirectly demonstrated that SARS-CoV-2 can infect human cardiomyocytes. Most markers in the cardiac enzymes and blood cell analysis of 956 patients did not increase, indicating that the SARS-CoV-2 may not cause myocardial damage in these patients, but cardiac nerve function damage in the later stage of the disease, and then cause palpitations and other symptoms, but not serious cardiovascular disease. 3. It is possible that the virus resides somewhere in the body, such as the nerves of the heart, to cause lasting effects. 4. It may help in the research of drugs to treat COVID-19. The serum myoglobin of 956 patients was significantly decreased without myocardial damage, so we speculated that the symptoms of patients such as heart palpitations were caused by the damage of heart nerves caused by SARS-CoV-2. We further speculated that cardiac nerves were potential drug targets for the treatment of COVID-19. Echocardiography was not performed in 956 patients due to emergency department conditions and time constraints. These 956 patients were not hospitalized or followed up because they did not have myocardial injury or acute pneumonia. The emergency department also did not have adequate laboratory conditions for follow-up studies. We hope that the qualified researchers all over the world will continue to study this.


Assuntos
COVID-19 , Mioglobina , Feminino , Humanos , Masculino , Eletrocardiografia , Mioglobina/sangue , Pandemias , SARS-CoV-2 , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(3): 558-562, 2023 Jun 18.
Artigo em Chinês | MEDLINE | ID: mdl-37291935

RESUMO

The patient was a 55-year-old man who was admitted to hospital with "progressive myalgia and weakness for 4 months, and exacerbated for 1 month". Four months ago, he presented with persistent shoulder girdle myalgia and elevated creatine kinase (CK) at routine physical examination, which fluctuated from 1 271 to 2 963 U/L after discontinuation of statin treatment. Progressive myalgia and weakness worsened seriously to breath-holding and profuse sweating 1 month ago. The patient was post-operative for renal cancer, had previous diabetes mellitus and coronary artery disease medical history, had a stent implanted by percutaneous coronary intervention and was on long-term medication with aspirin, atorvastatin and metoprolol. Neurological examination showed pressure pain in the scapularis and pelvic girdle muscles, and V- grade muscle strength in the proximal extremities. Strongly positive of anti-HMGCR antibody was detected. Muscle magnetic resonance imaging (MRI) T2-weighted image and short time inversion recovery sequences (STIR) showed high signals in the right vastus lateralis and semimembranosus muscles. There was a small amount of myofibrillar degeneration and necrosis, CD4 positive inflammatory cells around the vessels and among myofibrils, MHC-Ⅰ infiltration, and multifocal lamellar deposition of C5b9 in non-necrotic myofibrils of the right quadriceps muscle pathological manifestation. According to the clinical manifestation, imageological change, increased CK, blood specific anti-HMGCR antibody and biopsy pathological immune-mediated evidence, the diagnosis of anti-HMGCR immune-mediated necrotizing myopathy was unequivocal. Methylprednisolone was administrated as 48 mg daily orally, and was reduced to medication discontinuation gradually. The patient's complaint of myalgia and breathlessness completely disappeared after 2 weeks, the weakness relief with no residual clinical symptoms 2 months later. Follow-up to date, there was no myalgia or weakness with slightly increasing CK rechecked. The case was a classical anti-HMGCR-IMNM without swallowing difficulties, joint symptoms, rash, lung symptoms, gastrointestinal symptoms, heart failure and Raynaud's phenomenon. The other clinical characters of the disease included CK as mean levels >10 times of upper limit of normal, active myogenic damage in electromyography, predominant edema and steatosis of gluteus and external rotator groups in T2WI and/or STIR at advanced disease phase except axial muscles. The symptoms may occasionally improve with discontinuation of statins, but glucocorticoids are usually required, and other treatments include a variety of immunosuppressive therapies such as methotrexate, rituximab and intravenous gammaglobulin.


Assuntos
Doenças Autoimunes , Inibidores de Hidroximetilglutaril-CoA Redutases , Doenças Musculares , Miosite , Masculino , Humanos , Pessoa de Meia-Idade , Autoanticorpos , Miosite/diagnóstico , Músculo Esquelético/patologia , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Necrose/patologia , Doenças Musculares/diagnóstico , Doenças Musculares/tratamento farmacológico
10.
Artigo em Chinês | MEDLINE | ID: mdl-36878521

RESUMO

Objective: To investigate the effects of tumor necrosis factor-alpha (TNF-α)/extracellular signal-regulated kinase (ERK) pathway on the migration ability of HaCaT cells and full-thickness skin defects in mice. Methods: The experimental research method was adopted. According to the random number table (the same below), HaCaT cells were divided into the normal oxygen group and the hypoxia group cultured under hypoxia (with oxygen volume fraction of 1%, the same below) condition. After 24 hours of culture, the significantly differentially expressed genes between the 2 groups were screened using the microarray confidence analysis software SAM4.01. The significance of the number of each gene in the signaling pathway was analyzed through the Kyoto encyclopedia of genes and genomes to screen the significantly differentially signaling pathways (n=3). HaCaT cells were cultured for 0 (immediately), 3, 6, 12, and 24 h under hypoxia condition. The secretion level of TNF-α was detected by enzyme-linked immunosorbent assay (ELISA), and the number of samples was 5. HaCaT cells were divided into normal oxygen group, hypoxia alone group, and hypoxia+inhibitor group cultured with FR180204 (an ERK inhibitor) and under hypoxia condition. The cells were cultured for 3, 6, 12, and 24 h. The migration ability of the cells was detected by scratch test (n=12). The expressions of phosphorylated nuclear factor kappa B (p-NF-κB), phosphorylated p38 (p-p38), phosphorylated ERK1/2 (p-ERK1/2), N-cadherin, and E-cadherin in HaCaT cells were detected by Western blotting under hypoxic condition for 0, 3, 6, 12, and 24 h (n=3). Sixty-four BALB/c male mice aged 6 to 8 weeks were used to make a full-thickness skin defect wound model on the dorsum of the mice. The mice were divided into the blank control group and the inhibitor group treated with FR180204, with 32 mice in each group being treated accordingly. On post injury day (PID) 0, 3, 6, 9, 12, and 15, the wound conditions of mice were observed and the healing rate was calculated (n=8). On PID 1, 3, 6, and 15, hematoxylin-eosin staining was used to observe neovascularization, inflammatory cell infiltration, and epidermal regeneration on wound, Masson staining was used to observe collagen deposition on wound, the expressions of p-NF-κB, p-p38, p-ERK12, N-cadherin, and E-cadherin in wound tissue were detected by Western blotting (n=6), the number of Ki67 positive cells and the absorbance value of vascular endothelial growth factor (VEGF) were detected by immunohistochemistry (n=5), the protein expressions of interleukin 6 (IL-6), IL-10, IL-1ß, and CCL20 in wound tissue were detected by ELISA (n=6). Data were statistically analyzed with one-way analysis of variance, analysis of variance for repeated measurement, factorial design analysis of variance, Tukey test, least significant difference test, and independent sample t test. Results: After 24 hours of culture, compared with normal oxygen group, 7 667 genes were up-regulated and 7 174 genes were down-regulated in cells in hypoxic group. Among the above differentially expressed genes, the TNF-α signaling pathway had significant change (P<0.05) with large number of genes. Under hypoxia condition, the expression of TNF-α at 24 h of cell culture was (11.1±2.1) pg/mL, which was significantly higher than (1.9±0.3) pg/mL at 0 h (P<0.05). Compared with normal oxygen group, the migration ability of cells in hypoxia alone group was significantly enhanced at 6, 12, and 24 h of cell culture (with t values of 2.27, 4.65, and 4.67, respectively, P<0.05). Compared with hypoxia alone group, the migration ability of cells in hypoxia+inhibitor group was significantly decreased at 3, 6, 12, and 24 h of cell culture (with t values of 2.43, 3.06, 4.62, and 8.14, respectively, P<0.05). Under hypoxia condition, the expressions of p-NF-κB, p-ERK1/2, and N-cadherin were increased significantly at 12 and 24 h of cell culture compared with 0 h of culture (P<0.05), the expression of p-p38 was significantly increased at 3, 6, 12, and 24 h of cell culture (P<0.05), the expression of E-cadherin was significantly decreased at 6, 12, and 24 h of cell culture (P<0.05), the expression of p-ERK1/2, p-NF-κB, and E-cadherin was time-dependent. Compared with blank control group, on PID 3, 6, 9, 12, and 15, the wound healing rate of mice in inhibitor group was significantly decreased (P<0.05); there were more inflammatory cell infiltration around the wound edge of mice in inhibitor group on PID 3, 6, and 15, especially on PID 15, a large number of tissue necrosis and discontinuous new epidermal layer were observed on the wound surface, and collagen synthesis and new blood vessels were reduced; the expression of p-NF-κB in the wound of mice in inhibitor group was significantly decreased on PID 3 and 6 (with t values of 3.26 and 4.26, respectively, P<0.05) but significantly increased on PID 15 (t=3.25, P<0.05), the expressions of p-p38 and N-cadherin were significantly decreased on PID 1, 3, and 6 (with t values of 4.89, 2.98, 3.98, 9.51, 11.69, and 4.10, respectively, P<0.05), the expression of p-ERK1/2 was significantly decreased on PID 1, 3, 6, and 15 (with t values of 26.69, 3.63, 5.12, and 5.14, respectively, P<0.05), the expression of E-cadherin was significantly decreased on PID 1 (t=20.67, P<0.05) but significantly increased on PID 6 (t=2.90, P<0.05); the number of Ki67 positive cells and absorbance value of VEGF of wound in inhibitor group were significantly decreased on PID 3, 6, and 15 (with t values of 4.20, 7.35, 3.34, 4.14, 3.20, and 3.73, respectively, P<0.05); the expression of IL-10 in the wound tissue of the inhibitor group was significantly decreased on PID 6 (t=2.92, P<0.05), the expression of IL-6 was significantly increased on PID 6 (t=2.73, P<0.05), the expression of IL-1ß was significantly increased on PID 15 (t=3.46, P<0.05), and CCL20 expression levels were significantly decreased on PID 1 and 6 (with t values of 3.96 and 2.63, respectively, P<0.05) but significantly increased on PID 15 (t=3.68, P<0.05). Conclusions: The TNF-α/ERK pathway can promote the migration of HaCaT cells, and regulate the healing of full-thickness skin defect wounds in mice by affecting the expression of inflammatory cytokines and chemokines.


Assuntos
Interleucina-10 , Fator de Necrose Tumoral alfa , Masculino , Animais , Camundongos , Humanos , Fator A de Crescimento do Endotélio Vascular , MAP Quinases Reguladas por Sinal Extracelular , Células HaCaT , Interleucina-6 , Antígeno Ki-67 , NF-kappa B , Hipóxia , Oxigênio
12.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(1): 160-166, 2023 Feb 18.
Artigo em Chinês | MEDLINE | ID: mdl-36718706

RESUMO

OBJECTIVE: To analyze and compare the characteristics and causes of F wave changes in patients with Charcot-Marie-Tooth1A (CMT1A) and chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Thirty patients with CMT1A and 30 patients with CIDP were enrolled in Peking University Third Hospital from January 2012 to December 2018. Their clinical data, electrophysiological data(nerve conduction velocity, F wave and H reflex) and neurological function scores were recorded. Some patients underwent magnetic resonance imaging of brachial plexus and lumbar plexus, and the results were analyzed and compared. RESULTS: The average motor conduction velocity (MCV) of median nerve was (21.10±10.60) m/s in CMT1A and (31.52±12.46) m/s in CIDP. There was a significant difference between the two groups (t=-6.75, P < 0.001). About 43.3% (13/30) of the patients with CMT1A did not elicit F wave in ulnar nerve, which was significantly higher than that of the patients with CIDP (4/30, 13.3%), χ2=6.65, P=0.010. Among the patients who could elicit F wave, the latency of F wave in CMT1A group was (52.40±17.56) ms and that in CIDP group was (42.20±12.73) ms. There was a significant difference between the two groups (t=2.96, P=0.006). The occurrence rate of F wave in CMT1A group was 34.6%±39%, and that in CIDP group was 70.7%±15.2%. There was a significant difference between the two groups (t=-5.13, P < 0.001). The MCV of median nerve in a patient with anti neurofascin 155 (NF155) was 23.22 m/s, the latency of F wave was 62.9-70.7 ms, and the occurrence rate was 85%-95%. The proportion of brachial plexus and lumbar plexus thickening in CMT1A was 83.3% (5/6) and 85.7% (6/7), respectively. The proportion of brachial plexus and lumbar plexus thickening in the CIDP patients was only 25.0% (1/4, 2/8). The nerve roots of brachial plexus and lumbar plexus were significantly thickened in a patient with anti NF155 antibody. CONCLUSION: The prolonged latency of F wave in patients with CMT1A reflects the homogenous changes in both proximal and distal peripheral nerves, which can be used as a method to differentiate the CIDP patients characterized by focal demyelinating pathology. Moreover, attention should be paid to differentiate it from the peripheral neuropathy caused by anti NF155 CIDP. Although F wave is often used as an indicator of proximal nerve injury, motor neuron excitability, anterior horn cells, and motor nerve myelin sheath lesions can affect its latency and occurrence rate. F wave abnormalities need to be comprehensively analyzed in combination with the etiology, other electrophysiological results, and MRI imaging.


Assuntos
Plexo Braquial , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/patologia , Nervo Mediano/patologia , Nervo Ulnar/patologia , Plexo Braquial/patologia , Imageamento por Ressonância Magnética/métodos
13.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(6): 1158-1162, 2022 Dec 18.
Artigo em Chinês | MEDLINE | ID: mdl-36533348

RESUMO

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with high morbidity and mortality. There are about 5%-15% of ALS patients combining with frontotemporal lobe degeneration (FTLD) at the same time and 50% of patients combing with cognitive function changes. The analysis of cortical thickness based on MRI is an important imaging method to evaluate brain structure. The aim of the study was to explore the changes of brain structure in ALS patients by cortical thickness analysis, and to explore the correlation between the brain structure and cognitive function. METHODS: In the study, 18 ALS patients treated in Department of Neurology, Peking University Third Hospital and 18 normal controls (age, gender and education level matched) were included. 3D magnetization prepared rapid gradient echo imaging (MPRAGE) sequence MRI was performed and the cortical thickness was analyzed. At the same time, all the ALS patients took neuropsychology assessments, including: mini-mental state examination (MMSE), verbal fluency test (VFT), Stroop color word test (SCWT), prospective memory (PM), emotional picture perception and recognition, and faux pas story test. RESULTS: After cognitive assessment, two ALS patients had cognitive impairment. One was in accordance with ALS-frontotemporal dementia (FTD) diagnosis and the other one was in accordance with ALS cognitive impairment (ALSci) diagnosis. In all the 18 ALS patients and 18 normal controls, the cortical thickness of the left medial orbitofrontal lobe and the medial temporal lobe were significantly reduced (P < 0.05) in ALS group by the vertex-wise comparison. Cortical thickness of the left entorhinal cortex, the left inferior temporal gyrus, the left medial orbitofrontal lobe and the left insular lobe was significantly reduced (P < 0.05) by the region-wise comparison. However, when only concluded the 16 ALS non-cognitive impairment patients, there was no significant difference between the two groups (P>0.05). There were correlations between the scores of prospective memory, emotional picture perception and recognition, faux pas story test and the cortical thickness of their corresponding regions (P < 0.05). CONCLUSION: The cortical thickness of ALS patients are correlated with neuropsychological scores which may reflect the changes of cortical structure corresponding to the cognitive assessment, and may provide help for the early diagnosis of cognitive changes in ALS patients.


Assuntos
Esclerose Lateral Amiotrófica , Disfunção Cognitiva , Demência Frontotemporal , Doenças Neurodegenerativas , Humanos , Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Demência Frontotemporal/psicologia , Testes Neuropsicológicos , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Imageamento por Ressonância Magnética/métodos
14.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(5): 874-883, 2022 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-36241230

RESUMO

OBJECTIVE: To analyze the distribution characteristics of hereditary peripheral neuropathy (HPN) pathogenic genes in Chinese Han population, and to explore the potential pathogenesis and treatment prospects of HPN and related diseases. METHODS: Six hundred and fifty-six index patients with HPN were enrolled in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to May 2022. The PMP22 duplication and deletion mutations were screened and validated by multiplex ligation probe amplification technique. The next-generation sequencing gene panel or whole exome sequencing was used, and the suspected genes were validated by Sanger sequencing. RESULTS: Charcot-Marie-Tooth (CMT) accounted for 74.3% (495/666) of the patients with HPN, of whom 69.1% (342/495) were genetically confirmed. The most common genes of CMT were PMP22 duplication, MFN2 and GJB1 mutations, which accounted for 71.3% (244/342) of the patients with genetically confirmed CMT. Hereditary motor neuropathy (HMN) accounted for 16.1% (107/666) of HPN, and 43% (46/107) of HPN was genetically confirmed. The most common genes of HMN were HSPB1, aminoacyl tRNA synthetases and SORD mutations, which accounted for 56.5% (26/46) of the patients with genetically confirmed HMN. Most genes associated with HMN could cause different phenotypes. HMN and CMT shared many genes (e.g. HSPB1, GARS, IGHMBP2). Some genes associated with dHMN-plus shared genes associated with amyotrophic lateral sclerosis (KIF5A, FIG4, DCTN1, SETX, VRK1), hereditary spastic paraplegia (KIF5A, ZFYVE26, BSCL2) and spinal muscular atrophy (MORC2, IGHMBP, DNAJB2), suggesting that HMN was a continuum rather than a distinct entity. Hereditary sensor and autosomal neuropathy (HSAN) accounted for a small proportion of 2.6% (17/666) in HPN. The most common pathogenic gene was SPTLC1 mutation. TTR was the main gene causing hereditary amyloid peripheral neuropathy. The most common types of gene mutations were p.A117S and p.V50M. The symptoms were characterized by late-onset and prominent autonomic nerve involvement. CONCLUSION: CMT and HMN are the most common diseases of HPN. There is a large overlap between HMN and motor-CMT2 pathogenic genes, and some HMN pathogenic genes overlap with amyotrophic lateral sclerosis, hereditary spastic hemiplegia and spinal muscular atrophy, suggesting that there may be a potential common pathogenic pathway between different diseases.


Assuntos
Esclerose Lateral Amiotrófica , Doença de Charcot-Marie-Tooth , Atrofia Muscular Espinal , Doença de Charcot-Marie-Tooth/genética , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Flavoproteínas , Proteínas de Choque Térmico HSP40 , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Cinesinas , Ligases/genética , Chaperonas Moleculares , Enzimas Multifuncionais , Atrofia Muscular Espinal/genética , Mutação , Monoéster Fosfórico Hidrolases , Proteínas Serina-Treonina Quinases , RNA Helicases/genética , RNA de Transferência , Fatores de Transcrição/genética
16.
Eur Rev Med Pharmacol Sci ; 26(12): 4252-4257, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35776024

RESUMO

OBJECTIVE: Our aim is to describe and assess a Sandwich Excision (placenta-uterine-bladder excision together) surgical technique for women with clinically confirmed placenta percreta involving the maternal bladder. PATIENTS AND METHODS: A retrospective cohort study was performed on all patients with clinically confirmed placenta percreta involving the maternal bladder who underwent Sandwich Excision at our large academic institution from January 1, 2014, to June 30, 2019. RESULTS: Twenty-three patients were included. Four patients underwent hysterectomy, and one patient underwent subhysterectomy. The mean duration of surgery was 228.04 ± 85.59 minutes (range, 90.00-503.00 minutes). The mean estimated blood loss was 5,269.57 ± 2,745.81 mL (range, 1,000.00-12,500.00 mL). No thromboembolic events occurred, and there were no maternal or neonatal deaths among the subjects in this study. CONCLUSIONS: Sandwich excision is associated with a low rate of hysterectomy in women with placenta percreta involving the maternal bladder. The procedure is a relatively safe technique and can be performed safely by experienced obstetricians who are familiar with the uterus-bladder space. Meanwhile, the success rates and complications of the Sandwich Excision in these patients also need to be evaluated in prospective studies.


Assuntos
Placenta Acreta , Cesárea , Feminino , Humanos , Recém-Nascido , Placenta Acreta/cirurgia , Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Bexiga Urinária/cirurgia
17.
Eur Rev Med Pharmacol Sci ; 26(6): 1978-1983, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35363348

RESUMO

OBJECTIVE: The aim of this study was to assess the association between maternal weight gain and placenta morphology in the complete placenta previa pregnancies. PATIENTS AND METHODS: This was a prospective clinical cohort study. Pregnancy weight gain was defined as the difference between delivery and at first trimester. Morphological parameters, including placenta length, breadth, thickness, length-breadth, surface area, weight, and fetoplacental weight ratio, were direct measured delivery. RESULTS: Eighty-five women were included in this study. Maternal weight gain was 11.12 ± 3.95 kg. Placenta length, breadth, thickness, length-breadth, surface area, weight and fetoplacental weight ratio were 19.42 ± 1.97 cm, 18.29 ± 1.80 cm, 2.18 ± 0.38 cm, 1.13 ± 0.80 cm, 281.60 ± 57.23 cm2, 569.05 ± 118.77 g, and 4.88 ± 0.88, respectively. Correlation analysis showed that there was a positive correlation between maternal weight gain and placenta length (r = 0.261, p = 0.016), placenta breadth (r = 0.239, p = 0.028), and placenta surface area (r = 0.254, p = 0.019). In the linear regression model, maternal weight gain was significantly associated with placenta length [ß (95% CI): 0.130 (0.025-0.236)], breadth [ß (95% CI): 0.109 (0.012-0.205)], and surface area [ß (95%CI): 3.677 (0.615-6.739)]. The results were still stable after adjusting for pre-pregnancy weight. CONCLUSIONS: Maternal weight gain in pregnancy was associated with placental length, placental breadth, and placental surface area in a complete placenta previa pregnancies. Considering the single center data, further studies are needed to recognize the significance of the association analyzed in our study.


Assuntos
Placenta Prévia , Placenta , Estudos de Coortes , Feminino , Humanos , Gravidez , Estudos Prospectivos , Aumento de Peso
19.
Zhonghua Nei Ke Za Zhi ; 61(1): 77-81, 2022 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-34979774

RESUMO

Objective: To investigate small fiber neuropathy in patients with amyotrophic lateral sclerosis (ALS) by corneal confocal microscopy. Methods: A total of 57 ALS patients were consecutively enrolled in Department of Neurology between June 2015 and February 2016, including 37 men and 20 women with mean age 24-80 (52±11) years. There were 30 controls including 21 men and 9 women with mean age 23-76 (55±13) years. All subjects underwent corneal confocal microscopy (CCM), contact heat evoked potential (CHEP) and skin sympathetic reflection (SSR) to quantify small nerve fiber pathology. Four parameters, such as nerve fiber length (NFL), nerve branch density (NBD), nerve fiber density (NFD) and nerve fiber tortuosity (NFT) were assessed by corneal confocal microscopy. All statistical calculations were conducted using SPSS version 12.0. Results: Compared with control group, corneal nerve fiber length (NFL),nerve fiber density (NFD) were significantly decreased [(12.2±4.4)mm/mm2 vs.(15.1±4.5) mm/mm2,P=0.028;(50.8±24.0)/mm2 vs. (68.3±16.4)/mm2,P=0.002],and nerve fiber tortuosity (NFT) were significantly increased [(2.6±1.0)level vs.(1.0±0.5)level, P<0.01)] in SFN group, while nerve branch density (NBD) were comparable (P=0.700).The course of disease is correlated with NFT (r=0.25,P=0.030). Conclusions: CCM is a new sensitive noninvasive clinical technique that detects early small fiber nerve damage in patients with ALS.


Assuntos
Esclerose Lateral Amiotrófica , Neuropatias Diabéticas , Neuropatia de Pequenas Fibras , Adulto , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Córnea/diagnóstico por imagem , Feminino , Humanos , Masculino , Microscopia Confocal , Pessoa de Meia-Idade , Fibras Nervosas , Neuropatia de Pequenas Fibras/diagnóstico por imagem , Adulto Jovem
20.
Zhonghua Yi Xue Za Zhi ; 102(4): 255-260, 2022 Jan 25.
Artigo em Chinês | MEDLINE | ID: mdl-35073673

RESUMO

Objective: To investigate whether vestibular-evoked myogenic potentials(VEMPs) can be used to assess brainstem involvement in patients with Kennedy's disease (KD). Method: This was a case-control study.Twenty consecutive patients with genetically confirmed KD and 20 age-and sex-matched healthy subjects were enrolled from November 2018 to September 2020.All subjects were tested for three types of VEMPs, including cervical VEMP (c-VEMP) recorded by the sternocleidomastoid muscle (parameter:p13, n23), masseter VEMP (m-VEMP) recorded by the masseter muscle(parameter: p11), and ocular VEMP (o-VEMP) recorded by the inferior oblique muscle (parameter n10, p15).The latency of each wave, interside peak latency and interpeak latency of c-VEMP, the corrected amplitude and amplitude asymmetry ratio were recorded. Bilateral sternocleidomastoid muscle (SCMM) electromyography (EMG) was performed. The spinal cord and bulbous muscular atrophy functional rating scale (SBMAFRS) was used for assessment. Results: The mean p13 latency of c-VEMP was (15.5±1.4)ms, which was longer than that of the control group[(13.3±0.9)ms](P<0.05); the mean n23 latency was(25.5±1.4)ms, which was also longer than that of the control group[(22.5±1.0)ms] (P<0.05); the difference of bilateral p13[(2.3±0.6)ms] was significantly higher than that of the control group(P<0.05). The abnormal rates of c-, m-, o-VEMP in KD patients were 75%(15/20), 30%(6/20) and 20%(4/20), respectively. There was a significant positive correlation between c-VEMP latency and course of disease in KD patients(left: r=0.715, 0.695, right: r= 0.708, 0.715, both P<0.05). However, c-VEMP latency was negatively correlated with SBMAFRS score (left: r=-0.701, -0.694, right: r=-0.644, -0.685, both P<0.05). Abnormal rates of SCMM EMG in KD group were as follows: 15%(3/20)of patients showed spontaneous potential in resting state and 45% (9/20) of patients exhibited simple recruitment. Conclusions: The c-VEMP latency is a sensitive tool for detecting lower brainstem involvement in patients with KD, and the degree of damage increases with prolongation of disease course. The o-and m-VEMP abnormalities indicate that some KD patients develop upper brainstem damage.


Assuntos
Atrofia Bulboespinal Ligada ao X , Potenciais Evocados Miogênicos Vestibulares , Estimulação Acústica , Tronco Encefálico , Estudos de Casos e Controles , Eletromiografia , Humanos
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