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Background Para-infectious encephalopathy is an acute inflammatory encephalopathy secondary to a systemic infectious disease, including acute necrotizing encephalopathy (ANE) and mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). This paper reports on 3 cases of SARS-CoV-2 related to para-infectious encephalopathy diagnosed and treated in The Ordos Central Hospital of Inner Mongolia Autonomous Region from December 2022 to February 2023, and reviews relevant literature to summarize the clinical characteristics of the disease. Methods and Results The 3 patients with SARS-CoV-2 related to para-infectious encephalopathy, including 2 cases of SARS-CoV-2 related to ANE and one case of SARS-CoV-2 related to MERS were reported. Three patients developed consciousness disorder 2-4 d after fever, and still had aphasia, mental abnormality, convulsions, etc.. SARS-CoV-2 throat swab was positive. Head MRI showed one abnormal signal of brain stem and bilateral thalamus, one abnormal signal of bilateral thalamus, and one abnormal pressure of corpus callosum. All received hormone shock therapy and (or) intravenous immunoglobulin. One died, and 2 cases were recovered. Conclusions SARS-CoV-2 related to para-infectious encephalopathy including SARS-CoV-2 related to ANE and MERS and other clinical subtypes, the former has rapid progress, severe disease, high disability rate and fatality rate and poor prognosis, while the latter has relatively mild symptoms and better prognosis. [ABSTRACT FROM AUTHOR]

Objective Summarize the clinical and genetic characteristics of atypical Rett syndrome and developmental epileptic encephalopathy caused by IQSEC2 gene variation. Methods and Results From May 2020 to April 2022, Anhui Provincial Children's Hospital diagnosed and treated 4 children with atypical Rett syndrome and developmental epileptic encephalopathy caused by IQSEC2 gene variation, including 2 males and 2 females were a pair of identical twins. They all had comprehensive developmental delay before onset. At the age of 2 years, all cases gradually exhibited clinical manifestations of atypical Rett syndrome, such as frequent clapping, biting, sleep disorders (increased sleep or difficulty falling asleep), and grinding teeth, followed by developmental regression and seizures. The initial age of epilepsy was from 2 years and 2 months to 2 years and 10 months. All cases started with generalized tonic-clonic seizure, with epileptic spasm occurring between 2 and 11 months of course. Case 2, Case 3 and Case 4 were also accompanied by focal seizures. Four cases with VEEG background of 4-6 Hz θ wave, the VEEG during the interictal phase was a broad multifocal sharp slow complex wave. In Case 2, Case 3 and Case 4, MRI was abnormal, mainly with increased depth of cerebral hemispheric sulcus and gyrus. The whole exome sequencing suggested pathogenicity and possible pathogenic variations in the IQSEC2 gene, Case 1 and Case 2 were frameshift mutations of c. 608dup (p. Gln204Profs*35), while Case 3 and Case 4 were nonsense mutations of c.2231C>A (p.Ser744Ter) and c.2521C>T (p. Gln841Ter), respectively. The four mutation sites have not been reported domestically or internationally. All cases received treatment with multiple antiepileptic seizure medicine. The last follow-up age was from 4 years and 3 months to 6 years and 3 months. All cases were unable to walk alone and had no active language. There were no seizures in Case 1 for 3 years, occasional seizures in Case 2 and Case 4, and frequent seizures in Case 3. Conclusions IQSEC2 gene variation can manifest as atypical Rett syndrome, which can be accompanied by refractory epileptic spasms. Both males and females have severe phenotypes, and the severity of clinical phenotypes at the same mutation site varies. Our report enriches the variation spectrum and clinical phenotype spectrum of the IQSEC2 gene, expands the genetic spectrum of Rett syndrome and developmental epileptic encephalopathy, and provides value for the clinical diagnosis, treatment and subsequent research of this disease. [ABSTRACT FROM AUTHOR]

Background and objective Lung cancer is the leading cause of cancer-related death, of which non- small cell lung cancer (NSCLC) is the most common type. Immune checkpoint inhibitors (ICIs) have now become one of the main treatments for advanced NSCLC. This paper retrospectively investigated the effect of peripheral blood inflammatory indexes on the efficacy of immunotherapy and survival of patients with advanced non-small cell lung cancer, in order to find strategies to guide immunotherapy in NSCLC. Methods Patients with advanced non-small cell lung cancer who were hospitalized in The Affiliated Cancer Hospital of Nanjing Medical University from October 2018 to August 2019 were selected to receive anti-PD-1 (pembrolizumab, sintilimab or toripalimab) monotherapy or combination regimens. And were followed up until 10 December 2020, and the efficacy was evaluated according to RECIST1.1 criteria. Progression-free survival (PFS) and overall survival (OS) were followed up for survival analysis. A clinical prediction model was constructed to analyze the predictive value of neutrophil-to-lymphocyte ratio (NLR) based on NLR data at three different time points: before treatment, 6 weeks after treatment and 12 weeks after treatment (0w, 6w and 12w), and the accuracy of the model was verified. Results 173 patients were finally included, all of whom received the above treat-ment regimen, were followed up for a median of 19.7 months. The objective response rate (ORR) was 27.7% (48/173), the disease control rate (DCR) was 89.6% (155/173), the median PFS was 8.3 months (7.491-9.109) and the median OS was 15.5 months (14.087-16.913). The chi-square test and logistic multi-factor analysis showed that NLR6w was associated with ORR and NLR12w was associated with ORR and DCR. Further Cox regression analysis showed that NLR6w and NLR12w affected PFS and NLR0w, NLR6w and NLR12w were associated with OS. Conclusion In patients with advanced non-small cell lung cancer, NLR values at different time points are valid predictors of response to immunotherapy, and NLR <3 is often associated with a good prognosis. [ABSTRACT FROM AUTHOR]

Background Vascular mild cognitive impairment (VaMCI) is the prodromal syndrome of vascular dementia (VaD) and key target for drug treatment. There is controversy over the diagnostic criteria and screening tools of VaMCI, which affects its clinical diagnosis. This paper aims to explore the clinical features, diagnostic criteria and screening technique of VaMCI. Methods Taking "vascular mild cognitive impairment OR vascular cognitive impairment no dementia" as retrieval terms, search in PubMed database from January 1997 to March 2015 and screen relevant literatures concerning VaMCI. According to Guidance for the Preparation of Neurological Management Guidelines revised by European Federation of Neurological Societies (EFNS) in 2004, evidence grading was performed on literatures. Results A total of 32 literatures in English were selected according to inclusion and exclusion criteria, including 3 guidelines and consensus and 29 clinical studies. Seven literatures (2 on Level I, 5 on Level II) studied on neuropsychological features in VaMCI patients and found reduced processing speed and executive function impairment were main features. Two literatures reported the diagnostic criteria of VaMCI, including VaMCI criteria published by American Heart Association (AHA)/American Stroke Association (ASA) in 2011 and "Diagnostic Criteria for Vascular Cognitive Disorders" published by International Society for Vascular Behavioral and Cognitive Disorders (VASCOG) in 2014. Fifteen literatures (4 on Level I, II on Level II) described the diagnostic criteria of VaMCI used in clinical research, from which 6 operational diagnostic items were extracted. Fourteen literatures (4 on Level I, 10 on Level II) described neuropsychological assessment tools for VaMCI screening, and found the 5-minute protocol recommended by National Institute of Neurological Disorders and Stroke - Canadian Stroke Network (NINDS- CSN) was being good consistency with other neuropsychological assessment tools. Conclusions The neuropsychological features of VaMCI have guiding significance for diagnosis. VASCOG diagnostic criteria for VaMCI is practical in clinical practice, and 5-minute protocol is suitable for clinical rapid screening of VaMCI. [ABSTRACT FROM AUTHOR]

Alzheimer's disease (AD) is a common neurodegenerative disease in the elderly. Early diagnosis and prediction plays an important role in early intervention and delaying disease progression of AD. This paper focused on the principles and process of pattern classification method, and its application in the clinical study and auxiliary diagnosis of AD. The biomarkers, neuroimaging and cognitive ability scales are important features for pattern classification. Various classification algorithms including Bayesian networks, decision trees, support vector machines (SVM) and multilayer perception have been adopted to distinguish AD, mild cognitive impairment (MCI) and normal aging subjects. Besides, they can effectively trace and analyze MCI patients. [ABSTRACT FROM AUTHOR]

Malignant melanoma is a kind of tumor produced by human melanocytes. It has a high degree of malignancy, early metastasis and high mortality. Most melanomas are caused by malignant skin nevus and can also be seen in the digestive tract such as rectum and anus. Primary malignant melanoma of pleura is rare, rarely seen in case reports. This paper reports the clinical data of a case of malignant melanoma with cough, expectoration and pleural effusion as the first symptoms diagnosed by thoracoscopy combined with pathology in Beijing Friendship Hospital Affiliated to Capital Medical University, and analyzes and summarizes the literature data. [ABSTRACT FROM AUTHOR]

Background and objective The patients with advanced lung adenocarcinoma should select targeted drugs based on the type of tumor epidermal growth factor receptor (EGFR) gene mutation. However, it is difficult to collect tumor tissue of advanced lung adenocarcinoma, and some experts agree that peripheral blood can be used as a substitute for tumor tissue as a test specimen. This paper aimed to investigate the clinical value of ddPCR and super-amplification refractory mutation system (ARMS) in detecting EGFR gene mutation in peripheral blood of patients with advanced lung adenocarcinoma. Methods A total of 119 patients diagnosed in Beijing Chest Hospital Affiliated to Capital Medical University from February 2016 to February 2019 were collected, and the sensitivity and specificity of plasma ctDNA EGFR gene mutation detected by ddPCR and super-arms were compared. Some patients with positive EGFR gene mutations received oral treatment with first-line EGFR tyrosine kinase inhibitors (EGFR-TKI). The patients were divided into subgroups according to the test results. In group 1, both ddPCR and super-arms showed positive EGFR gene mutation results, with 21 cases. In group 2, ddPCR and super-arms detection of EGFR gene mutation were all negative, with 16 cases. In group 3, the ddPCR test was positive and the super-arms test was negative, with 5 cases. In group 4, the ddPCR test result was negative while the super-arms test result was positive. Since the number of patients in group 4 was 0, no statistics were included. Objective response rate (ORR) and disease control rate (DCR) were used to evaluate the short-term outcome, and progression-free survival (PFS) was compared with survival analysis to evaluate the long-term outcome. Results EGFR mutations were detected in 58 (48.7%) of 119 patients with advanced lung adenocarcinoma. The coincidence rate between ddPCR and EGFR gene mutation in tumor tissues was 82.4% (Kappa=0.647, P<0.001), the sensitivity was 74.1%, and the specificity was 90.2%. However, the coincidence degree of superarms test and tissue test was 71.4%, the sensitivity was only 58.6%, and the specificity was 83.6%. The ORR and DCR values in group 3 were lower than those in group 1 and 2, but there was no significant difference in ORR between groups (P>0.05). Survival analysis showed that the PFS of the three groups was compared. The difference was not statistically significant (^2=2.221, P=0.329). Conclusion ddPCR, as a high sensitivity and specificity liquid gene detection method, can be used as a reliable method to detect the mutation of plasma ctDNA EGFR gene in patients with advanced lung adenocarcinoma. The results of plasma genetic testing can also be used as the basis for predicting the efficacy of EGFR-TKIs in patients. [ABSTRACT FROM AUTHOR]

The incidence of cryptococcal meningitis (CM) and/or cryptococcal meningoencephalitis raised in recent years. These diseases often have occult onset and non-specific clinical features, so they are difficult to diagnose. This paper reviewed several related articles in the past few years, and found that combined use of repeated smear of cerebrospinal fluid, latex agglutination test and imageological examination is a good way to diagnose CM. Combined and long-term antifungal therapeutic strategy and surgery operation on occasion can improve the prognosis of CM patients. [ABSTRACT FROM AUTHOR]

In order to understand the latest progression on neuromuscular disorders for clinicians, this review screened and systemized the papers on neuromuscular disorders which were collected by PubMed from January 2013 to February 2014. This review also introduced the clinical diagnosis and treatment hightlights on glycogen storage disease type II (GSD II), Duchenne muscular dystrophy (DMD), amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). The important references will be useful for clinicians. [ABSTRACT FROM AUTHOR]

The word "dementia" originates with Dr. Philippe Pinel of France. Back in 1801, Pinel reported a young female patient, aged 34, who was exhibiting some strange symptoms for someone in her age group. Pinel described this woman's condition as "demence", or an incoherence of mental faculties. It was believed that the term "dementia" came from this association. More than a century later (1906), Dr. Alois Alzheimer published a paper on one of his patients who had very similar symptoms and behaviors as Pinel's patient. This description, of a woman known as Auguste D, was the first scientific report of the disease now known as Alzheimer's disease. It is now clear that Alzheimer's disease is a major cause of dementia in elderly people as well as in relatively young adults. Research in the last two centuries has led to a greatly improved understanding of what Alzheimer's disease is, who gets it, and how it develops and affects the brain. Those works are beginning to pay off with better diagnostic techniques, improved treatments, and even potential ways of preventing these diseases. [ABSTRACT FROM AUTHOR]

High-grade gliomas are central nervous system malignancies which are difficult to treat. Surgery, temozolomide combined with radiotherapy postoperatively and adjuvant chemotherapy with temozolomide have been established as the standard treatment options for high-grade gliomas. Nevertheless, the prognosis of patients with high-grade gliomas remains poor. At present, there is no standard therapy for recurrent or relapsed high - grade gliomas. Temozolomide is still an effective drug for the treatment of recurrent high-grade gliomas. According to the characteristics of patients, there have been many kinds of temozolomide administration and other treatments in combination. Individual therapy were paid more attention, so that the patients with high-grade gliomas recurrence could get greater survival benefit. This paper aims to introduce the progress of temozolomide in the treatment of recurrent high-grade gliomas in recent years [ABSTRACT FROM AUTHOR]

Neuropathic pain (NP) is a transient dysfunction caused by the damage of peripheral nerve and central nervous system, characterized with hyperalgesia, allodynia and spontaneous pain. Surgical treatment of neuropathic pain has experienced a long process, and plays an important role. This paper reviews recent documents of surgical techniques in the treatment of neuropathic pain. There are three kinds of surgical techniques: neuromodulation, microsurgical lesions and nerve decompression. [ABSTRACT FROM AUTHOR]

Sleep -wake disturbances (SWD) after stroke is a sleep -wake disorder resulting from central nervous system lesion caused by stroke. SWD includes hypersomnia, excessive daytime sleepiness (EDS), fatigue and so on. The prevalence rate of SWD is only less than sleep -related breathing disturbances (SBD). Recent studies suggest that SWD is frequent and negatively affects rehabilitation and quality of life of patients with stroke, and treatment of poststroke SWD may favorably influence stroke outcome. SWD may become a new target of treatment and rehabilitation of stroke. This paper reviewed the progress of this issue. [ABSTRACT FROM AUTHOR]

Background Nowadays, the epidemiological report and study about the intracranial aneurysms in young adults are very rare, especially in China. This paper aims to investigate the epidemiological and imaging features of intracranial aneurysms in young adults with the age of 16-29 years old. Methods Clinical data of 2119 patients with intracranial aneurysms admitted from January 2010 to October 2012 were retrospectively analyzed. Results Intracranial aneurysms in young adults (16-29 years old) accounted for 1.93% of all intracranial aneurysms (41/2119) treated in the same period, and the gender ratio (male-female) was 2.15-1. A total of 42 intracranial aneurysms were found in 41 patients, including 35 located in the anterior circulation and 7 in the posterior circulation, of which 13 aneurysms (30.95%) in the anterior communicating artery, 6 aneurysms (14.29%) each in the middle cerebral artery and the distal of anterior cerebral artery, and 2 aneurysms (4.76% ) in the posterior communicating artery. There were almost 34 aneurysms (80.95%) located in bifurcation of Willis circle and proximal aorta and 8 aneurysms (19.05%) in the branches of artery. The diameter of aneurysms were ⩽ 5 mm in 19 aneurysms (45.24%), 6-10 mm in 13 (30.95%), 11-24 mm in 3 (7.14%) and ⩾ 25 mm in 7 (16.67%). Conclusion Young men are much more susceptible to intracranial aneurysms than young women, but the incidence in women increases as they grow old. The anterior communicating artery is the predilection site of intracranial aneurysms in young adults (16-29 years old), and the occurence of giant aneurysms and the aneurysms in the posterior circulation and the distal of anterior cerebral artery is common. The epidemiological and imaging features and gender ratio of intracranial aneurysms in young adults (16-29 years old) are similar to those in children and adolesents, but much different from adult patients. [ABSTRACT FROM AUTHOR]

Neuropathic pain (NP) is defined as a chronic pain initiated or caused by the lesion of the nervous system. Its mechanism is not determined and there are no effective treatments. This paper briefly describes the recent management of neuropathic pain. [ABSTRACT FROM AUTHOR]

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Tuberculous meningitis is an infectious disease of central nervous system caused by Mycobacterium tuberculosis. It mainly invades into brain meninges and parenchyma, and may spread to the spinal cord and spinal meninges. The disability rate and mortality rate of this disease are very high. In recent years, incidence of tuberculosis increased significantly due to the increase of drug - resistant tuberculosis cases, population mobility, acquired immunodeficiency syndrome (AIDS) epidemic and other factors. Tuberculosis is still a worldwide serious threat to human life and health, especially in the underdeveloped and developing countries. China is the world's largest developing country with large population, so tuberculosis prevention and control is still a quite severe problem. In this paper, the clinical manifestations, diagnosis and differential diagnosis, treatment progress of tuberculous meningitis were reviewed systematically. [ABSTRACT FROM AUTHOR]