Analysis of the clinical characteristics and misdiagnosis of area postrema syndrome manifesting as intractable nausea, vomiting, and hiccups in neuromyelitis optica spectrum disorders / 中华内科杂志

Objective: To investigate the misdiagnosis of area postrema syndrome (APS) manifesting as intractable nausea, vomiting and hiccups in neuromyelitis optic spectrum disease (NMOSD) and reduce the risk of misdiagnosis. Methods: We retrospectively analyzed data from NMOSD patients attending the Department of Neurology at the First Medical Center of PLA General Hospital between January 2019 and July 2021. SPSS25.0 was then used to analyze the manifestations, misdiagnosis, and mistreatment of APS. Results: A total of 207 patients with NMOSD were included, including 21 males and 186 females. The mean age of onset was 39±15 years (range: 5-72 years). The proportion of patients who were positive for serum aquaporin 4 antibody was 82.6% (171/207). In total, 35.7% (74/207) of the NMOSD patients experienced APS during the disease course; of these patients, 70.3% (52/74) had APS as the first symptom and 29.7% (22/74) had APS as a secondary symptom. The misdiagnosis rates for these conditions were 90.4% (47/52) and 50.0% (11/22), respectively. As the first symptom, 19.2% (10/52) of patients during APS presented only with intractable nausea, vomiting and hiccups; 80.8% (42/52) of patients experienced other neurological symptoms. The Departments of Gastroenterology and General Medicine were the departments that most frequently made the first diagnosis of APS, accounting for 54.1% and 17.6% of patients, respectively. The most common misdiagnoses related to diseases of the digestive system and the median duration of misdiagnosis was 37 days. Conclusions: APS is a common symptom of NMOSD and is associated with a high rate of misdiagnosis. Other concomitant symptoms often occur with APS. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing physical examinations are essential if we are to reduce and avoid misdiagnosis.

Efficacy and Safety of Teriflunomide in Chinese Patients with Relapsing Forms of Multiple Sclerosis: A Subgroup Analysis of the Phase 3 TOWER Study / 中华医学杂志(英文版)

Background@#Disease-modifying therapy is the standard treatment for patients with multiple sclerosis (MS) in remission. The primary objective of the current analysis was to assess the efficacy and safety of two teriflunomide doses (7 mg and 14 mg) in the subgroup of Chinese patients with relapsing MS included in the TOWER study.@*Methods@#TOWER was a multicenter, multinational, randomized, double-blind, parallel-group (three groups), placebo-controlled study. This subgroup analysis includes 148 Chinese patients randomized to receive either teriflunomide 7 mg (n = 51), teriflunomide 14 mg (n = 43), or placebo (n = 54).@*Results@#Of the 148 patients in the intent-to-treat population, adjusted annualized relapse rates were 0.63 (95% confidence interval [CI]: 0.44, 0.92) in the placebo group, 0.48 (95% CI: 0.33, 0.70) in the teriflunomide 7 mg group, and 0.18 (95% CI: 0.09, 0.36) in the teriflunomide 14 mg group; this corresponded to a significant relative risk reduction in the teriflunomide 14 mg group versus placebo (-71.2%, P = 0.0012). Teriflunomide 14 mg also tended to reduce 12-week confirmed disability worsening by 68.1% compared with placebo (hazard ratio: 0.319, P = 0.1194). There were no differences across all treatment groups in the proportion of patients with treatment-emergent adverse events (TEAEs; 72.2% in the placebo group, 74.5% in the teriflunomide 7 mg group, and 69.8% in the teriflunomide 14 mg group); corresponding proportions for serious adverse events were 11.1%, 3.9%, and 11.6%, respectively. The most frequently reported TEAEs with teriflunomide versus placebo were neutropenia, increased alanine aminotransferase, and hair thinning.@*Conclusions@#Teriflunomide was as effective and safe in the Chinese subpopulation as it was in the overall population of patients in the TOWER trial. Teriflunomide has the potential to meet unmet medical needs for MS patients in China.@*Trial Registration@#ClinicalTrials.gov, NCT00751881; https://clinicaltrials.gov/ct2/show/NCT00751881?term=NCT00751881&rank=1.

Seroprevalence and diagnostic value of aquaporin-4 antibody in patients with inflammatory central nervous system demyelinating diseases / 南方医科大学学报

<p><b>OBJECTIVE</b>To assess the seroprevalence and diagnostic value of aquaporin-4 antibody (AQP4-Ab) in patients with inflammatory central nervous system demyelinating diseases.</p><p><b>METHODS</b>Seventy-two patients with neuromyelitis optica (NMO), 68 with multiple sclerosis (MS), 4 with optic neuritis (ON), and 41 with transverse myelitis (TM) were included in this study. The TM group comprised 19 patients with non-longitudinally extensive transverse myelitis (nLETM), 14 with monophasic longitudinally extensive transverse myelitis (mLETM), and 8 with recurrent longitudinally extensive transverse myelitis (rLETM). The serum levels of AQP4-Ab was detected by indirect immunofluorence assay in these patients.</p><p><b>RESULTS</b>AQP4-Ab was detected in 72.2% (52/72) patients with NMO, 5.9% (4/68) patients with MS, 25.0% (1/4) patients with ON, and 17.1% (7/41) patients with TM, showing a significant difference in the positivity between NMO and MS groups (P<0.01). AQP4-Ab seropositivity rate was 5.3% (1/19) in nLETM patients, 62.5% (5/8) in rLETM patients and 7.1% (1/14) in mLETM patients, significantly higher in rLETM than in nLETM (P<0.01) and mLETM groups (P<0.05), but no statistical difference was found between rLETM and NMO groups.</p><p><b>CONCLUSIONS</b>A high seroprevalence of AQP4-Ab is observed in patients with NMO and rLETM, which support the hypothesis that NMO and rLETM belong to NMO spectrum disorders. AQP4-Ab can serve as a useful index for diagnosing NMO and differential diagnosis from MS. More attention and effective immunosuppressive treatments should be given to patients positive for AQP4-Ab.</p>

Magnetic resonance imaging characteristics of spinal cord lesions and brain abnormalities in Chinese patients with neuromyelitis optica / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the magnetic resonance imaging (MRI) characteristics of neuromyelitis optica (NMO) in Chinese patients.</p><p><b>METHODS</b>We retrospectively reviewed the MRI films of 61 patients with NMO (including 57 female and 4 male patients) admitted in our department.</p><p><b>RESULTS</b>Of these patients, 39 (79.6%) showed positivity for serum aquaporin-4 (AQP4) antibody. On MRI, 18 patients showed involvement of the cervical cord alone, 27 had both cervical and thoracic segment involvement, and 16 displayed thoracic segment involvement. The lesions appeared linear (9 cases), diffuse (23 cases), or both (29 cases), mostly located axially with occasional lateral distribution. Thirty-nine of the 61 patients (63.9%) had brain abnormalities, 31 presented with supratentorial lesions (mostly in the juxtacortical, subcortical, deep white matter and lateral ventricle-adjacent regions, n=27), 15 showed infratentorial lesions (mostly in the preiaqueduct-fourth ventricular-central canal, n=13), and 7 had supra- and infratentorial lesions simultaneously.</p><p><b>CONCLUSION</b>NMO has complex MRI presentation, and linear lesions in the spinal cord and preiaqueduct-fourth ventricular-central canal lesions, where AQP4 is high expressed, can be characteristic for NMO. MRI and AQP4 antibody detection are suggested for suspected cases for early diagnosis.</p>

Value of tumor markers in the cerebrospinal fluid in the diagnosis of meningeal carcinomatosis / 南方医科大学学报

<p><b>OBJECTIVE</b>To assess the diagnostic value of tumor markers in the cerebrospinal fluid (CSF) for meningeal carcinomatosis (MC).</p><p><b>METHODS</b>Twenty-one MC patients (including 13 adenocarcinoma and 8 non-adenocarcinoma patients), 72 patients with tuberculous meningitis (TBM) and 23 with primary intracerebral tumors (PIT) were enrolled in this study. Blood and CSF tumor markers including CEA, CA125, CA15-3, CA19-9, CA72-4, CYFRA21-1, AFP and NSE were measured by Roche E170 electrochemiluminescence analyzer and sandwich assay.</p><p><b>RESULTS</b>CSF tumor markers CEA, CA125, CA199 and CYFRA21-1 and the serum tumor markers CEA, CA125, CA153, CA199 and AFP were significantly higher in MC group than in the other two groups. CSF CEA and CA15-3 were significantly higher in adenocarcinoma MC than in non-adenocarcinoma MC patients, but no significant differences were found in the serum tumor markers between the two groups (P>0.05). CSF tumor markers including CEA, CA125, CA15-3, CA72-4 and CYFRA21-1 were positively correlated to the serum tumor markers (P<0.05). CA199 was positively correlated to the disease course (P<0.05), and age was not correlated to any of the indexes (P>0.05).</p><p><b>CONCLUSION</b>Detection of the tumor markers in the CSF, especially CEA, CA125, CA19-9 and CYFRA21-1, may help in the early diagnosis of MC. CEA and CA15-3 can serve as indicators for differential diagnosis of adenocarcinoma and non-adenocarcinoma.</p>

Study on the application and evaluation of methods for gene and antigen detection in plague surveillance program / 中华流行病学杂志

<p><b>OBJECTIVE</b>To apply and evaluate new methods regarding specific gene and antigen detection in plague surveillance program.</p><p><b>METHODS</b>1798 samples from natural foci of plague were tested, using internal quality control multiple-polymerase chain reaction, F1 antigen marked by immuno chromatographic assay and enzyme linked immunosorbent assay. Culture of Yersinia pestis and reverse indirect hemagglutination assay were used as reference diagnostic methods.</p><p><b>RESULTS</b>The overall positive rate of culture on Yersinia pestis together with gene and antigen detection was 7.34%, showing an 16.81% increase when comparing to 6.28% using Yersinia pestis culture method alone. The rate of coincidence was 97.13%.</p><p><b>CONCLUSION</b>The new standard being used for specific gene and antigen detection could increase the positive rate of diagnosis on plague.</p>

R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.</p><p><b>METHODS</b>The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.</p><p><b>RESULTS</b>Two patients of the family showed the typical features of HOKPP: the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family.</p><p><b>CONCLUSION</b>The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.</p>