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Byline: Qing-Che. Tan, Jia-Tang. Zhang, Rong-Tai. Cui, Quan-Gang. Xu, Xu-Sheng. Huang, Sheng-Yuan. Yu Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has been reported in many geographical [...]

Purpose:Neurobrucellosis (NB) is a rare complication of brucellosis. NB presents with avariety of clinical manifestations, and the symptoms are always atypical. Our aim was to analyze the demographic characteristics, clinical manifestations, laboratory findings, imaging findings, treatments and outcomes of patients with NB. Material and Method:We retrospectively reviewed the data from 17 patients with NB hospitalized at the Chinese People's Liberation Army General Hospital between 1 January 2005 and 31 October 2016. Results:The following symptoms were recorded: 10/17 (59%) patients had fever, and 9/17 (53%) patients had a disorder affecting urination and defecation. Involvement of the cranial nerves was documented in 12/17 (71%) patients. The positivity rates of the tests were as follows: serum standard tube agglutination (STA), 15/17 (88.2%); cerebrospinal fluid STA, 10/17 (59%). The radiologic findings were categorized into four types: normal, white matter changes, vascular insult and inflammatory changes. Patients were treated with different combinations of rifampicin, doxycycline, ceftriaxone sodium and sulphamethoxazole for a total of six months. Two (12%) patients deteriorated, and two (12%) patients were lost to follow-up. The remaining patients (76%) were cured, but sequelae occurred in six patients. Conclusions:NB should be kept in mind in patients with autonomic dysfunction, especially disorders of urination and defecation. Hearing loss due to vestibulocochlear nerve injury seems to be typical for NB. The high incidence of sequelae may be related to a long disease course and the involvement of the central nervous system. Early detection, diagnosis and treatment could decrease mortality and sequelae. [ABSTRACT FROM PUBLISHER]

Purpose:Aspergillosis of the central nervous system is very rare. However with recent increases in the use of immunosuppressive agents and antibiotics, its incidence is increasing. We evaluated the demographics, clinical manifestations, laboratory findings, diagnosis, underlying conditions, treatment regimens and outcomes of patients with cerebral aspergillosis (CA).Methods:We retrospectively reviewed data from eight patients with CA hospitalized at a Chinese general hospital from 1 January 2005 to 30 September 2015.Results:Common clinical manifestations included headache and cranial nerve involvement. Four patients underwent biopsy and were pathologically diagnosed withAspergillushyphae. One patient was proved to haveAspergillusinfection via autopsy. One patient had positive cerebrospinal fluid fungal cultures. The lesion locations were: the cavernous sinus (n= 5, 62.5%), frontal lobe (n= 1, 12.5%), temporosphenoid lobe (n= 1, 12.5%) and cerebellum (n= 1, 12.5%). At the end of follow-up, three patients were cured and five patients had died (mortality rate, 62.5%).Conclusions:Most patients with CA had no significant immunosuppression-related conditions in our study.Aspergillusspp.can infect the central nervous system through several pathways and CA has an atypical clinical manifestation. The use of local tissue puncture, surgery or other invasive means to obtain diseased tissue containing higher levels ofAspergillus, followed by culture or histological examination, can contribute to an early diagnosis of CA and timely therapeutic intervention. The prognosis of CA is poor, but early and adequate use of antifungal drugs with high transfer across the blood–brain barrier and radical surgery to remove lesions can improve the survival rate. [ABSTRACT FROM PUBLISHER]

Information regarding the characteristics of pleural effusions in patients with POEMS syndrome is limited. The aim of this study was to describe the incidence and risk factors of pleural effusions in patients with POEMS syndrome and characterize the pleural fluid biochemistry in those patients. A retrospective review of 96 patients with POEMS syndrome was conducted. The patients were divided into groups with and without pleural effusions. The clinical data were obtained from medical charts. Risk factors were studied with univariate and multivariate analysis. The median age at the time of diagnosis of POEMS syndrome was 45.1 years, and the median disease duration was 30.4 months. Pleural effusions were detected in 41 (42.7%) of the 96 patients. Increased serum vascular endothelial growth factor (VEGF), complement component 3 (C3), Lambda light chain, tumour necrosis factor (TNF)-α, interleukin (IL)-6 levels and low albumin as well as cardiac disease were found to be significantly correlated with pleural effusions. By multivariate logistic regression, independent risk factors for pleural effusions in POEMS syndrome were VEGF [odds ratio (OR): 2.46, 95% confidence interval (CI): 1.720-3.414, p = 0.01], TNF-α (OR: 3.64, 95% CI: 1.073-4.338, p = 0.04) and C3 (OR: 3.77, 95% CI: 1.225-3.591, p = 0.02) levels. Pleural effusions are the most common thoracic involvement findings in patients with POEMS syndrome, and all the pleural fluids are exudates. Serum VEGF, TNF-α and C3 levels are identified as important risk factors for presence of pleural effusions in POEMS syndrome. Copyright © 2014 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Painful peripheral neuropathy (PPN) is characterized by neuropathic pain (NP), which is accompanied by dysfunction of motor, sensory and autonomic nervous system. It always involves small nerve fibers, including A а and C fibers. PPN can be classified into two types according to etiology: hereditary and acquired. Pain of PPN can manifest as spontaneous pain and stimulus - evoked pain (allodynia, hyperalgesia and hyperpathia). The manifestation of typical cases is length - dependent, which firstly involves the feet, and then progresses proximally and to the hands, presenting a glove-stock pattern. PPN can be either an isolated disease entity or part of other diseases. The former indicates idiopathic small fiber neuropathy (SFN), while the latter contains various diseases involving peripheral nerve fibers, including systemic diseases such as diabetes mellitus and peripheral neuropathy with other causes. The accessory examinations of PPN include quantitative sensory testing (QST), intraepidermal nerve fiber density (IENFD), sympathetic skin response (SSR), etc. Among them, IENFD is the "golden standard" for SFN. The major therapeutic methods are to control primary diseases and relieve pain. Medications alleviating neuropathic pain consist of carbamazepine, pregabalin, gabapentin and amitriptyline, etc. [ABSTRACT FROM AUTHOR]

Bromodomain-containing protein 4 (BRD4) inhibitors have been proven to be a promising option for anti-HIV-1 latency therapeutics. We herein describe the design, synthesis, and anti-HIV-1 latency bioevaluation of triazolopyridine derivatives as BRD4 inhibitors. Among them, compound 13d displayed favorable HIV-1 reactivation and prominent safety profile without triggering abnormal immune activation. It exerted strong synergism when combined with the PKC activator prostratin and has the same BRD4-targeting latency mechanism as observed with JQ1, by stimulating Tat-dependent HIV-1 elongation. Besides, it neither affected the antiviral efficacies of antiviral drugs nor caused secondary infections to uninfected cells and the latency reversing potency of 13d , in turn, was not affected by different classes of antiviral drugs., Competing Interests: The authors declare no competing financial interest., (© 2023 American Chemical Society.)

Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree., Methods: We performed a detailed clinical assessment of a Chinese family with three affected members. We screened for pathogenic mutations using a disease-related gene panel containing 519 genes associated with genetic myopathy (including 17 CMS genes)., Results: In the family, the proband showed limb-girdle pattern of weakness with sparing of ocular, facial, bulbar, and respiratory muscles. Repetitive nerve stimulation showed a clear decrement of the compound muscle action potentials at 3 Hz only. Pathological analysis of the left tibialis anterior muscle showed predominance of type I fiber and the presence of scattered small angular fibers. The proband's two elder sisters shared a similar but more severe phenotype. By gene analysis, the same novel homozygous mutation (c.5302G>C, p. A1768P) of AGRN was identified in all three affected members, whereas the same heterozygous mutation was found in both parents, revealing an autosomal recessive transmission pattern. All patients showed beneficial responses to adrenergic agonists., Conclusions: This study reports a Chinese pedigree in which all three children carried the same novel AGRN mutation have CMS only affecting limb-girdle muscle. These findings might expand the spectrum of mutation in AGRN and enrich the phenotype of CMS.

Objective: To explore the electromyography (EMG) and nerve conduction (NC) features of patients with myotonic dystrophy type 1 (DM1)., Methods: Routine PCR and triplet primed-PCR (TP-PCR) were performed for 33 clinically diagnosed DM1 cases at our clinic from June 2009 to June 2012. The EMG and NC results of 30 patients with a genetic diagnosis of DM1 were collected and analyzed., Results: Myotonic discharges were found in all patients and EMG revealed myogenic changes in 29 patients. Among all 123 muscles examined, the incidence of myotonic discharges was, a little higher than that of myogenic changes (91.87% vs 90.24%). The rate of myotonic discharges in distal muscles was higher than that of myotonic discharges in proximal muscles (100% vs 83.61%). And the difference was statistically significant. No difference existed in myogenic changes between distal and proximal muscles.(87.10% vs 93.44%) Nerve conduction was all normal., Conclusions: Myotonic discharges and myogenic changes are important EMG features in DM1. In early stage of DM1, myotonic discharges may be the isolated EMG abnormality. Myotonic discharges are predominantly detected in distal muscles. The involved regions detected by EMG are wider than those of clinical findings. EMG is an important screening tool for subclinical or early atypical DM1 patients.

To select optimal cut-off values of tumor markers in cerebrospinal fluid for the diagnosis of meningeal carcinomatosis, the concentrations of CEA, CA125, CA153, CA199, CA724, CYFRA21-1, AFP and NSE were determined by means of double-antibody sandwich enzyme-linked immunosorbent assay (ELISA) in 21 MC patients, 25 cancer patients without leptomeningeal disease (group one) and 45 meningitis patients (group two) using the Roche E170 modular immunoassay analyzer. Optimal cut-off values were selected based on a receiver-operating characteristic curve. The results showed that CA125 and CEA in CSF were optimal diagnostic indices distinguishing between MC patients and cancer patients without leptomeningeal disease. Cut-off values for CA125 and CEA were 1.715 microliters and 0.274 microgram/l, respectively. In addition, CEA in CSF was the optimal diagnostic index distinguishing MC patients from meningitis patients. The cut-off value for CEA was 4.522 microgram/l.